Hirsutism is the growth of excess hair in androgen dependent areas or in a male pattern. The phenomenon is found in conditions where there is abnormal androgen action. This can occur in adrenal lesions including congenital adrenal hyperplasia, and Cushing syndrome, or a failure to produce adequate female hormones such as PCOS and premature menopause. Similarly, drugs such as anabolic steroids, danazol and minoxidil can also cause hirsutism. Delayed puberty is unlikely to cause hirsutism.

Hassall’s corpuscles are groups of epithelial cells within the thymic medulla. The physical nature of these structures differs between mammalian species. Although Hassall’s corpuscles have been proposed to act in both the removal of apoptotic thymocytes and the maturation of developing thymocytes within the thymus, the function of Hassall’s corpuscles has remained an enigma.

Penetrance is defined as the percentage of individuals having a particular mutation or genotype who exhibit clinical signs or phenotype of the associated disorder or genotype.Gaucher disease is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Among the given options, lipoatrophy takes time to develop as it is a long-term complication of insulin therapy. Since it has only been two weeks since the initiation of insulin therapy, it is unlikely to occur so early.The risk of lipoatrophy is reduced with newer insulins and also can be avoided by site rotation.However, anaphylaxis, allergic reactions, infection and abscesses at the site of an insulin pump can occur in this patient as a complication of insulin therapy.

Urine culture and sensitivity is used to diagnose a urinary tract infection (UTI). A mid-stream clean catch urine sample is the most common type of sample collected. It is important to follow the clean catch process to have accurate results from an uncontaminated sample. Urine cultures can also check for infections of the bladder or kidney.

The patient has bloody diarrhoea that sounds like a food poisoning in the clinical scenario. Campylobacter is the most common cause of this in the United Kingdom. This is then followed by Salmonella and Shigella. The symptoms are usually self limiting. This is more likely to be bacterial from the food than a viral gastroenteritis.

The femoral artery is the one accompanying the femoral shaft, being the most important blood supplier of the leg. Femoral artery injury during a femur shaft fracture is quite common as a result of blunt trauma.

Among the given options, the most likely cause for the patient’s presenting symptoms is acute interstitial nephritis secondary to anti-tubercular therapy (ATT)Drug-induced acute interstitial nephritis can occur following treatment with beta-lactams, sulphonamides, rifampicin, ethambutol, and erythromycin. They can cause an acute allergic reaction with the infiltration of immune cells.Acute interstitial nephritis is said to be the most common renal complication in patients undergoing anti-TB treatment. Rifampicin is the most implicated drug, although ethambutol can also be a cause. The pathogenesis involves an immune-complex mediated acute allergic response, which leads to their deposition on renal vessels, the glomerular endothelium, and the interstitial area. Other options:Isoniazid does not affect the kidneys. Pulmonary-renal syndrome is a feature of Goodpasture’s syndrome. It is characterized by renal failure and lung haemorrhage. Severe cardiac or renal failure ensues and is complicated by pulmonary oedema, systemic lupus erythematosus, Henoch-Schönlein purpura, and cryoglobulinemia.

The most probable diagnosis in this patient would be febrile seizure plus syndrome.Rationale:All of the answers are possible epileptic conditions that this 8-year-old may have. However, the background history of febrile seizure together with a family history of febrile seizures, in a boy who is growing well, with no developmental delay, make febrile seizures plus the most appropriate differential diagnosis for this patient.Other options:- Epilepsy with myoclonic absences are often challenging to treat and may continue into adulthood. There is a male predominance (70%). At presentation, approximately half of cases have a learning disability. An absence seizure is common in this diagnosis and usually occurs daily.- Juvenile absence epilepsy may present with initial generalised tonic-clonic epilepsy followed by absences after that. They are also seen with a background of febrile seizure, and the peak age of presentation is usually at eight years old. Given the current history and lack of absences, this diagnosis is least likely.- Juvenile myoclonic epilepsy usually presents with a myoclonic seizure, although the presentation maybe with a generalised tonic-clonic seizure. It occurs more frequently. Background history of febrile fit may be present in 5-10% of the cases.- Temporal lobe epilepsy is usually associated with aura, and that is not seen in this patient.

The most probable diagnosis based on the scenario provided above is hereditary spherocytosis.While jaundice and abdominal pain might make you think of hepatitis or cholecystitis in the first instance, the lack of fever suggests otherwise. The apyrexial presentation is against acute cholecystitis, and the past medical history reveals a chronic type of fatigue and two previous episodes of hepatitis. Furthermore, it is unlikely that the child has contracted infective hepatitis twice and now a third time! The most common cause of hepatitis in childhood is hepatitis A, however the lack of travel history to endemic areas makes this less likely. Hepatitis A is usually a mild, self-limiting disease that never presents with chronic symptoms. The chronicity of his fatigue and the blood results lead towards a haematological diagnosis. This is further substantiated by his low haemoglobin levels, high MCV and high reticulocyte count. Chronic haemolytic anaemia is the most likely cause, and the negative Coombs excludes autoimmune haemolytic anaemia (AIHA). Thus, leaving us with the answer as hereditary spherocytosis.Hereditary spherocytosis is a disorder that makes the cytoskeleton of red cells more fragile and therefore leads to red cell death and splenomegaly. Gallstones are a result of this red cell destruction and increased haem metabolism.

The baby needs more oxygen saturation which could be attempted by increasing the mean airway pressureAfter initial resuscitation and stabilization, the following should be the ventilator settings used:Rate: 30-40/minutePeak inspiratory pressure (PIP) – determined by adequate chest wall movement.An infant weighing less than 1500 grams: 16-28 cm H2O.An infant weighing greater than 1500 grams: 20-30 cm H2O. Positive end expiratory pressure (PEEP): 4 cm of H2O OR 5-6 cm if FiO2 > 0.90.FiO2: 0.4 to 1.0, depending on the clinical situation.Inspiratory time: 0.3-0.5 sec.After 15 to 30 minutes, check arterial blood gases and pH.If the PaO2 or the O2 saturation is below accepted standards, the FiO2 can be raised to a maximum of 1.0. If the PaO2 or O2 saturation is still inadequate, the mean airway pressure can be raised by increasing either the PIP, PEEP, inspiratory time or the rate, leaving inspiratory time constant.If the PaCO2 is elevated, the rate or peak inspiratory pressure can be raised.

Presentation can vary by individual. Early stages are often characterized by malaise, fatigue, and lethargy. One to 3 months of inadequate intake can lead to anaemia, myalgia, bone pain, easy bruising (Figure 3), swelling, petechiae, perifollicular haemorrhages, corkscrew hairs, gum disease, poor wound healing, mood changes, and depression. Perifollicular haemorrhages and easy bruising are often first seen in the lower extremities, as capillary fragility leads to an inability to withstand hydrostatic pressure. Late stages of scurvy are more severe and life threatening| common manifestations include generalized oedema, severe jaundice, haemolysis, acute spontaneous bleeding, neuropathy, fever, convulsions, and death.

This girl most likely has Turner syndrome (TS) also known as 45,X, a condition in which a female is partly or completely missing an X chromosome. Signs and symptoms vary among those affected. Often, a short and webbed neck, low-set ears, low hairline at the back of the neck, short stature, and swollen hands and feet are seen at birth. Typically, they are without menstrual periods, do not develop breasts, and are unable to have children. Heart defects, diabetes, and low thyroid hormone occur more frequently. Most people with TS have normal intelligence. Many, however, have troubles with spatial visualization such as that needed for mathematics. Vision and hearing problems occur more often. Turner syndrome is not usually inherited from a person’s parents. No environmental risks are known and the mother’s age does not play a role. As a chromosomal condition, there is no cure for Turner syndrome. However, much can be done to minimize the symptoms including prescribing growth hormone, either alone or with a low dose of androgen, and oestrogen replacement therapy which is crucial long term for maintaining good bone integrity, cardiovascular health and tissue health

Types of DNA mutations and their impactpoint mutation:Substitution: One base is incorrectly added during replication and replaces the pair in the corresponding position on the complementary strand as in Sickle cell anaemiaInsertion: One or more extra nucleotides are inserted into replicating DNA, often resulting in a frameshift as in one form of beta-thalassemiaDeletion: One or more nucleotides is skipped during replication or otherwise excised, often resulting in a frameshift as in Cystic fibrosis.Chromosomal mutation:Inversion: One region of a chromosome is flipped and reinserted as in Opitz-Kaveggia syndromeDeletion: A region of a chromosome is lost, resulting in the absence of all the genes in that area as in Cri du chat syndromeDuplication: A region of a chromosome is repeated, resulting in an increase in dosage from the genes in that region as in some cancers and Charcot-Marie toothTranslocation: A region from one chromosome is aberrantly attached to another chromosome as in One form of leukaemiaCopy number variation:Gene amplification: The number of tandem copies of a locus is increased as in Some breast cancersExpanding trinucleotide repeat: The normal number of repeated trinucleotide sequences is expanded as in Fragile X syndrome, Huntington’s disease

Coarctation of the aorta may be defined as a constricted aortic segment that comprises localized medial thickening, with some infolding of the medial and superimposed neointimal tissue.The presence of associated defects and aortic arch anomalies, the extent of patency of the ductus arteriosus, the rapidity of the process of closure of the ductus arteriosus, and the level of pulmonary vascular resistance determine the timing of clinical presentation and the severity of symptoms. Young patients may present in the first few weeks of life with poor feeding, tachypnoea, and lethargy and progress to overt CHF and shock. These patients may have appeared well before hospital discharge, and deterioration coincides with closure of the patent ductus arteriosus. Presentation may be abrupt and acute with ductal closure.Neonates may be found to have tachypnoea, tachycardia, and increased work of breathing and may even be moribund with shock. Keys to the diagnosis include blood pressure (BP) discrepancies between the upper and lower extremities and reduced or absent lower extremity pulses to palpation. However, when the infant is in severe heart failure, all pulses are diminished.The murmur associated with coarctation of the aorta may be nonspecific yet is usually a systolic murmur in the left infraclavicular area and under the left scapula.

Oesophageal atresia refers to a congenitally interrupted oesophagus. One or more fistulae may be present between the malformed oesophagus and the trachea. The lack of oesophageal patency prevents swallowing. In addition to preventing normal feeding, this problem may cause infants to aspirate and literally drown in their own saliva, which quickly overflows the upper pouch of the obstructed oesophagus. If a tracheoesophageal fistula (TEF) is present, fluid (either saliva from above or gastric secretions from below) may flow directly into the tracheobronchial tree.The complete absence of gas in the GI tract denotes the absence of a distal tracheoesophageal fistula (TEF)| however, distal fistulae simply occluded by mucous plugs have been rarely reported.If no distal TEF is present, a gastrostomy may be created. In such cases, the stomach is small, and laparotomy is required. In all cases of oesophageal atresia in which a gastrostomy is created, care should be taken to place it near the lesser curvature to avoid damaging the greater curvature, which can be used in the formation of an oesophageal substitute. When a baby is ventilated with high pressures, the gastrostomy may offer a route of decreased resistance, causing the ventilation gases to flow through the distal fistula and out the gastrostomy site. This condition may complicate the use of ventilation.

Consuming iron in its Fe2+ (ferrous form) form can improve the ability to absorb dietary iron in patients with iron deficiency anaemia (IDA). Clinical features of IDA include:- Koilonychia- Atrophic glossitis- Post-cricoid webs- Angular stomatitisThe peripheral blood smear shows the following abnormal RBC morphologies:- Target cells- Pencil poikilocytes- Microcytic-hypochromic cells

Transient tachypnoea of the new-born (TTN) is the commonest cause of respiratory distress in new-borns and self-limiting. It can affect any new-born shortly after birth. Its most prominent feature is tachypnoea. Nasal flaring, grunting, or intercostal retractions may also be present.

The most probable diagnosis for this child would be rheumatic fever due to a previous history of rheumatic fever, evidence of streptococcal disease from a throat swab, a raised ASO titre and a positive streptococcal antigen test or a leukocytosis.Acute Rheumatic Fever:ARF occurs because of an abnormal immune response to a streptococcal antigenic component. It has a latent period of 1–3 weeks and is more common in the lower socio-economic classes. It peaks at around 5–15 years of age and affects the blood vessels, joints, nervous system and subcutaneous tissues. It is characterised as an autoimmune disease, and there is a risk of rheumatic fever occurring after infection in 3% of the population. The recurrence is greater in younger children and increases with each attack. Duckett-Jones criteria:The diagnostic criteria for acute rheumatic fever.Major: – Pancarditis- Chorea (Sydenham’s) – Polyarthritis (flitting)- Erythema marginatum- Subcutaneous nodulesMinor criteria include the presence of arthralgia, fever, prolonged PR interval, raised ESR, raised CRP.Note that:To make the diagnosis of rheumatic fever: Two major and/or one major with two minor criteria are required. Evidence of a recent streptococcal infection with a raised ASO titre or an antiribonuclease B level is sufficient. Exceptions to this rule are mentioned below:- Chorea alone is diagnostic.- Insidious or late-onset carditis with no other explanation.- Rheumatic recurrence: The presence of one major and one minor criterion with a prior streptococcal disease that is recurring.Consequences of pericarditis include heart block, pericardial effusion, tachycardia, cardiomegaly, pericardial friction rub, congestive cardiac failure, valvular disease and a Carey–Coombes apical mid-diastolic rumbling murmur.New heart murmurs are often audible, including those of mitral regurgitation and aortic regurgitation. Skin nodules affect the perivascular tissues and are non-specific lesions resulting from fibroid degeneration.Management:Medication includes aspirin for the acute phase, non-steroidal anti-inflammatory drugs for arthritis, prednisolone for severe carditis, and high-dose penicillin for immediate management with antibiotic prophylaxis in the long term. Antibiotics may include penicillin V, erythromycin or benzylpenicillin. Diazepam and haloperidol may be required to control the chorea.

Erythema nodosum is the most common type of inflammation of the subcutaneous fat tissue, referred to as panniculitis. Erythema nodosum appears as painful, erythematous round lumps, usually symmetrically on the anterior aspect of lower extremities. These lesions are self-limiting and tend to resolve within 2-8 weeks without undergoing necrosis or ulceration. There are various causes of erythema nodosum, but the most important among children is the streptococcal throat infection. Other causes include autoimmune conditions like sarcoidosis, inflammatory bowel disease, mycobacterial infection (TB), drugs like penicillin and sulphonamides, and malignancies like some leukemias and lymphomas.

Hyperkalaemia presents with high voltage (peaked) T waves on ECG. Other features on ECG include smaller p-waves and wider QRS complexes.

The most probable cause for the child’s presenting symptoms and the findings in ultrasound would be the presence of an abnormal posterior urethral valve. A posterior urethral valve is a developmental anomaly that usually affects male infants (incidence 1 in 8000) leading to obstructive uropathy. Diagnostic features include bladder wall hypertrophy, hydronephrosis and bladder diverticula.Note:Posterior urethral valves are the most common cause of infra-vesical outflow obstruction in males. They can be diagnosed on antenatal ultrasonography. Due to the necessity of the fetal bladder to develop high emptying pressures in utero secondary to this anomaly, the child may develop renal parenchymal damage. This leads to renal impairment noted in 70% of boys at the time of presentation. Management:The immediate treatment would be to place a bladder catheter to relieve the acutely retained urine. The definitive treatment of choice would be an endoscopic valvotomy with a cystoscopic and renal follow up.

Toe walking refers to a pattern of walking in which the infants walk on the balls of their feet, without putting the heel of the feet on the ground. It is considered normal under the age of 2 years, but if it continues beyond that, it can signify some underlying pathology. The diseases that can be associated with toe walking include unilateral hip dislocation, Spinal tumours, Duchenne muscular dystrophy, prematurity, and cerebral palsy. Waardenburg’s syndrome is an autosomal dominant disorder, causing sensorineural deafness, and heterochromatic irises. Toe walking is not a feature.

Autism is a neurodevelopmental disorder characterized by difficulties with social interaction, language delays, and some repetitive behaviours. Autism may be associated with some dysmorphic facial features, including macrocephaly, which denotes an abnormally large head. Macrocephaly is usually most observable during early childhood. The other features mentioned are not found to be associated with autism.

Pale stools suggest obstructive jaundice. Initially, the symptoms of biliary atresia are indistinguishable from those of neonatal jaundice, a usually harmless condition commonly seen in infants. However, infants with biliary atresia develop progressive conjugated jaundice, pale white stools and dark urine.

Mild deficiencies of 21-hydroxylase or 3-beta-hydroxysteroid dehydrogenase activity may present in adolescence or adulthood with oligomenorrhea, hirsutism, and/or infertility. This is termed nonclassical adrenal hyperplasia.Late-onset or nonclassical congenital adrenal hyperplasia (NCAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders. Reported prevalence ranges from 1 in 30 to 1 in 1000. Affected individuals typically present due to signs and symptoms of androgen excess. Treatment needs to be directed toward the symptoms. Goals of treatment include normal linear growth velocity, a normal rate of skeletal maturation, ‘on-time’ puberty, regular menstrual cycles, prevention of or limited progression of hirsutism and acne, and fertility. Treatment needs to be individualized and should not be initiated merely to decrease abnormally elevated hormone concentrations.Normal Ultrasound rules out Turner’s syndrome.

Adrenal insufficiency is a serious medical condition that leads to inadequate secretion of corticosteroids. There are three main types of adrenal insufficiency: primary, secondary, and tertiary, based on the location of the abnormality. Primary adrenal insufficiency is caused by any pathology located inside the adrenal glands. The most common cause of primary adrenal insufficiency is Addison’s disease, which is an autoimmune condition. Adrenoleukodystrophy is an X-linked neurodegenerative disease that also causes primary adrenal insufficiency. Secondary adrenal insufficiency is caused by any pathological impairment of the pituitary gland or the hypothalamus. The important causes of secondary adrenal insufficiency include iatrogenic (steroid use), pituitary tumours like craniopharyngioma, and conditions leading to panhypopituitarism like Sheehan’s syndrome. Tertiary adrenal insufficiency is caused by the deficiency of the corticotropin-releasing hormone. Hypoparathyroidism does not cause adrenal insufficiency.

The antiretroviral agent for the side effects mentioned is most probably, efavirenz.Efavirenz is a non-nucleoside reverse transcriptase inhibitor and the most likely cause of new-onset psychiatric symptoms in someone taking HAART. In this scenario the patient had no pre-existing mental health problems, as other antiretrovirals can cause depression and suicidal ideation in those who have a past psychiatric history. Symptoms usually subside after a few weeks of treatment.Other options:- Emtricitabine is a nucleoside reverse transcriptase inhibitor and is also not known to cause psychiatric side effects. The most common side effects of Emtricitabine are rash and darkening of the palms or soles.- Lamivudine is a nucleoside reverse transcriptase inhibitor, which can cause insomnia, but does not commonly cause other psychiatric symptoms.- Rilpivirine is a non-nucleoside reverse transcriptase inhibitor, which can cause depression. However, this is more common in those with a history of mental health problems.- Tenofovir is a nucleotide reverse transcriptase inhibitor. The most common side effect of Tenofovir is gastrointestinal upset. It is not known to cause psychiatric side effects.

Low oxygen delivery in hypotension, hypoxia, oedema, intracranial hypertension or changes in cerebral blood flow should all be prevented to avoid secondary brain injury. There is no evidence to suggest that hypothermia prevents secondary brain injuries.

The first brachial arch (mandibular) gives rise to the mandibular and maxillary processes. Muscles and bones of this process originate within the arch’s mesoderm. The first arch cartilage (Meckel’s) ossifies to form the incus and malleus of the middle ear. Its perichondrium gives rise to he sphenomandibular ligament and through intermembraneous ossification after the mandible forms, the rest of the cartilage disappears. Muscles of the first arch include: mylohyoid, tensor tympany and palati, temporalis, masseter and lateral pterygoids and the anterior belly of the epigastric. This first arch is supplied by the trigeminal nerve.

Hypertrophic villi is a response to chronic irritation by allergic reactions

Case control studies are used to determine the relationship between exposure to a risk factor and the resultant outcomes. It finds patients in the general population who have a certain condition and retrospectively searches for past exposure to possible risk factors for the disease. Controls are people who do not have the disease found in the general population. This type of study is useful for rare diseases, and is less time consuming to conduct. While cohort studies can be used to study rare diseases they measure the relative risk of developing the disease over time based on exposure. Ecological or cross-sectional studies attempt take a snapshot of a whole population, and thus are inappropriate for rare diseases as larger sample numbers are needed. A randomised control trial is better suited to determine the effect of an intervention.

Acute lymphoblastic leukaemia (ALL) is an aggressive type of blood and bone marrow cancer which can appear in childhood. Signs of childhood ALL include: Fever, Easy bruising, Petechiae, Bone or joint pain, Painless lumps in multiple areas of the body, Weakness, fatigue or paleness, and Loss of appetite. Blood tests may show elevated white blood cells, decreased values of red blood cells and low platelet count.

The most probable diagnosis for the patient would be DiGeorge syndrome due to 22q11 deletion. It causes embryonic defects of the third and fourth branchial arches. It is sporadic in 90% of cases and 10 % inherited from parents as autosomal dominant.Characterised by distinct facial features (micrognathia, cleft palate, short philtrum, and low-set ears), hypocalcaemia, mental retardation, cardiac defects (especially tetralogy of Fallot), and immune deficiencies.A useful memory aid is CATCH-22:- Cardiac defects- Abnormal facial features- Thymic aplasia/hypoplasia- Cleft palate- Hypocalcaemia/Hypoparathyroidism- 22 – Due to 22q11 deletion

Turner syndrome is a genetic disease that affects females. It presents with wide-spread nipples, low hairline, lymphoedema, short 4th metacarpals, high-arched palate, cardiac problems, and horseshoe kidneys.

Pityriasis rosea is a common, acute exanthem of uncertain aetiology. Viral and bacterial causes have been sought, but convincing answers have not yet been found. Pityriasis rosea typically affects children and young adults. It is characterized by an initial herald patch, followed by the development of a diffuse papulosquamous rash. The herald patch often is misdiagnosed as eczema. Pityriasis rosea is difficult to identify until the appearance of characteristic smaller secondary lesions that follow Langer’s lines (cleavage lines). Several medications can cause a rash similar to pityriasis rosea, and several diseases, including secondary syphilis, are included in the differential diagnosis.

Upper brachial plexus roots innervate the proximal muscles of the shoulder and the upper arm. In this particular case, only these areas are affected, suggesting that the levels of brachial plexus injury are at roots C5-C6.

An important predictor of the foetal well-being is the evaluation of amniotic fluid volumes, commonly done using ultrasonography. Amniotic fluid index (AFI) is calculated by measuring the largest vertical diameter of the fluid pocket in all four quadrants of the uterine cavity and then added together. Oligohydramnios or decreased amniotic fluid volume can be defined as an AFI less than 5cm and occurs in about 4-5% of the pregnancies. It is associated with a number of foetal abnormalities and complications. Foetal abnormalities that lead to oligohydramnios include: premature rupture of membranes, intrauterine growth retardation, and congenital foetal abnormalities among others. A single umbilical artery is an anatomical defect of the umbilical cord, which leads to IUGR, uteroplacental insufficiency and may be associated with multiple congenital abnormalities as well, which all ultimately lead to the development of oligohydramnios. Foetal hydrops, developmental dysplasia of the hip and, macrosomia lead to polyhydramnios. Cleft palate is not associated with any of them.

Cranial nerve II (CN II or optic nerve) runs along the midline of the ventral surface of the brain and conveys visual information from the retina of each eye to the corresponding region of the primary visual cortex. The right half of the visual field of both eyes is processed by the left half of the retina, while the right half of the retina processes the left half of the visual field. These retinal ganglion cells project myelinated axons, carrying CN II sensory afferent fibres, through the optic chiasm, where optic nerve fibres from the nasal half of each retina decussate to the contralateral side of the brain for processing. After passing through the optic chiasm, the optic nerve becomes the optic tract that synapses to the lateral geniculate nucleus (LGN) of the thalamus and subsequently projects optic radiations to the primary visual cortex (V1) of the occipital lobe. The optic tract also projects to the superior colliculus, pretectal nuclei, and suprachiasmatic nuclei. This part of the optic pathway serves the important light reflex.Due to the anatomical location of the optic chiasm superior to the pituitary gland, a suprasellar extension of a pituitary macroadenoma will lead to compression of the optic nerve fibres decussating at the optic chiasm. Impingement of these nerves prevents visual information from the temporal visual fields of each eye from reaching the processing centres in the brain, leading to peripheral vision loss

Pellagra occurs as a result of niacin (vitamin B-3) deficiency. Niacin is required for most cellular processes. Since tryptophan in the diet can be converted to niacin in the body, both of these need to be deficient for pellagra to develop.The classical triad of symptoms is diarrhoea, dermatitis and dementia.The first sign is reddened skin with superficial scaling in areas exposed to sunlight, heat and friction. This may resemble severe sunburn then gradually subsides leaving a dusky brown-red colouration. The rash is usually symmetrical with a clear edge between affected and unaffected skin.

In the Hirschberg test, the corneal reflex should fall in the same place in both eyes. If there is a malalignment then the reflection of the light will appear in different places in the two eyes. The cover test is then used to differentiate between a latent deviation, or a manifest deviation.In the Bruckner test, the direct ophthalmoscope is used to obtain a red reflex simultaneously in both eyes. If strabismus is present, the deviated eye will have a lighter and brighter reflex than the fixating eye.The swinging flashlight test is a test of the pupils response to light, and to check for a relative afferent pupillary defect (RAPD).The Angle Kappa test measures the angle between the line of sight and the corneal-pupillary axis. It is a monocular measurement.

Cortisol is secreted in a circadian pattern.The secretion of cortisol is regulated by the suprachiasmatic nucleus located in the hypothalamus.Other options:- FSH, LH, GH and prolactin are secreted in a pulsatile pattern, i.e. these hormones are secreted in an episodic manner rather than continuously.- Thyroxine is secreted in a continuous pattern, not pulsatile.- The secretion of ACTH is in response to stress.Secondary to stress, the hypothalamus secretes corticotrophin releasing hormones, which are transported to the pituitary gland via the hypophyseal–portal system. ACTH is then released by the pituitary gland and binds to its receptor on the adrenal gland, which releases cortisol.

The child has symptoms and signs suggestive of an inflammatory arthropathy. This is why he should firstly be referred for an eye exam to exclude iritis or treat it if present. – Amblyopia is not directly associated with inflammatory arthropathies unless they had recurrent ocular involvement.- Blepharitis is not an associated finding in a child with inflammatory arthropathy.- Episcleritis may occur, and is often non-sight threatening, and therefore would not be the main cause for concern.- Optic neuropathy in juvenile inflammatory arthritis has been reported, although it is rare.

The initial symptoms of spasmodic abdominal pain, rectal bleeding and vomiting might point towards intussusception, but the peak incidence is in children aged 6–9 months. Considering that this child has additional symptoms of haematuria, proteinuria and a purpuric rash, it is more likely that the child has Henoch–Schönlein purpura (HSP). HSP is an identifiable cause of intussusception. It is an IgA-mediated, autoimmune hypersensitivity vasculitis that targets the small vessels of the skin, GI tract, kidneys, and joints. It is most commonly seen in children aged 3 – 6years and is twice as common in boys than girls. Preceding viral URTI with low-grade pyrexia is common. The most common organism associated with HSP is, however, Group A streptococcal infection. A purpuric rash is seen on the back of the legs and buttocks and can less frequently, affect the arms. Arthralgia is common (usually knees/ankles) in these patients. Abdominal pain and bloody diarrhoea may occur. And half of the children with HSP have renal involvement. Rarely, it can lead to end-stage renal failure. Treatment includes adequate hydration, occasionally steroids, and other immunosuppressants. The disease can recur in 1 in 3 children.

Pubic lice are commonly referred to as ‘crabs’ because of their short, broad body (about 1 mm), and large front claws. Pubic lice infestation is diagnosed by finding a “crab” louse or eggs on hair in the pubic region or, less commonly, elsewhere on the body (eyebrows, eyelashes, beard, moustache, armpit, perianal area, groin, trunk, scalp). Although pubic lice and nits can be large enough to be seen with the naked eye, a magnifying lens may be necessary to find lice or eggs.Pubic lice are transmitted from person to person most-commonly via sexual contact, although fomites (bedding, clothing) may play a minor role in their transmission.

An odds ratio (OR) is a measure of the association between an exposure and an outcome. The OR represents the odds that an outcome will occur given a particular exposure, compared to the odds of the outcome occurring in the absence of that exposure. Odds ratios are most commonly used in case-control studies, however they can also be used in cross-sectional and cohort study designs as well (with some modifications and/or assumptions). Wherea = Number of exposed casesb = Number of exposed non-casesc = Number of unexposed casesd = Number of unexposed non-casesOR=(a/c) / (b/d) = ad/bc

Fetal alcohol syndrome (FAS) is a common yet under-recognized condition resulting from maternal consumption of alcohol during pregnancy. The diagnosis of fetal alcohol syndrome (FAS) is based on findings in the following 3 areas: (1) characteristic facial anomalies (see image below), (2) growth retardation (intrauterine growth restriction and failure to have catch-up growth), and (3) CNS involvement (cognitive impairment, learning disabilities, or behavioural abnormalities).Key characteristic craniofacial abnormalities include the following:- Smooth philtrum- Thin, smooth vermilion border of the upper lipShort palpebral fissures (< 10th percentile for age)Other craniofacial abnormalities are as follows:- Midface hypoplasia- Microphthalmia- Strabismus- PtosisCNS and neurobehavioral abnormalities include the following:- Microcephaly- Intellectual impairment (mild-to-moderate mental retardation)- Cognitive impairment- Developmental delay- Irritability in infancy- Hyperactivity in childhood or attention deficit hyperactivity disorder (ADHD)- Seizures- Delayed or deficient myelination- Agenesis or hypoplasia of the corpus callosumSkeletal abnormalities include the following:- Radioulnar synostosis- Flexion contractures- Camptodactyly- Aberrant palmar creases, especially hockey-stick palmar crease- Clinodactyly- Klippel-Feil anomaly- Hemivertebrae- Scoliosis- Dislocated jointsOther major congenital anomalies include the following:- Cleft palate- Heart defects- Renal anomalies- DiGeorge sequenceFunctional problems include the following:- Refractive problems (e.g., myopia, astigmatism)- Hearing lossGrowth deficiency includes the following:- Infant small for gestational age (< 10th percentile for weight or length)- Postnatal growth deficiency

History of recurrent infections and failure to thrive (probably due to pancreatic enzyme insufficiency) is highly suggestive of cystic fibrosis. Pseudomonas has been identified as an important respiratory pathogen in patients with cystic fibrosis.

Based on the findings presented, the sign elicited is Rovsing’s sign.Rovsing’s sign:It is a sign suggestive of appendicitis. A positive sign is determined when palpation in the left lower quadrant of a patient’s abdomen causes pain in the right lower quadrant.Other options:- Murphy’s sign is positive in gallbladder inflammation. With the upper border of the examiner’s hand in the right upper quadrant of the abdomen under the rib cage, the patient is asked to inhale. Inhalation causes the gallbladder to descend, which catches on the fingers, causing pain.- Cullen’s sign is suggestive of ectopic pregnancy or acute pancreatitis and describes the bruising around the umbilicus.- Tinel’s sign is positive in those with carpal tunnel syndrome. The examiner’s fingers tap the median nerve over the flexor retinaculum, which causes paraesthesia over the distribution of the median nerve.- Battles’ sign describes bruising behind the ear, suggesting a basal skull fracture of the posterior cranial fossa.

For Otorhinolaryngologist, removal of foreign bodies (FB) from the ear, nose and throat is one of the common emergency procedures done. Most of the cases especially of the ear and nose can be managed without General Anaesthesia (GA). But in some cases GA may be needed. As the child is mentally unstable, he is unlikely to be able to hold still while the foreign body (pea) is being removed with a forceps, which could result in instrumental damage to the ear canal. Pea is an organic foreign body and not metallic hence the use of magnets would not be of any help either. From the options provided, general anaesthesia would be the best option in this child.

Congenital hypothyroidism is one of the most important diseases of the new-born, which may lead to mental and physical retardation when treatment is delayed or an appropriate dosage of thyroxine is not administered. The most alarming and earliest sign is jaundice, especially when it is prolonged, during the neonatal period.

Box plots can be used to display numerical outcomes and give valid summaries (median and interquartile range or IQR) for any distributional form that the outcomes might take. Additionally, they show outlying values and provide data summaries that are not unduly influenced by those outliersOther options:- The box itself represents the interquartile range, with the two whiskers representing the variability outside the upper and lower quartiles.- Variability is represented with whiskers and feathers are used in fan charts.They are not as informative as showing the actual values but can be used to make comparisons of medians and IQRs between subgroups.

Jacob is likely to be four years old as demonstrated by his activities throughout the day. Most 4 year olds are able to run well, jump and hop, but find skipping a little more difficult. They are able to brush their teeth and dress themselves with supervision, and go to the toilet alone.

The patient’s sugar levels typically show the Dawn phenomenon.Dawn phenomenon:This is an early morning rise in blood glucose levels secondary to a rise in hormones that increase blood glucose levels. The question suggests that he is undergoing a pubertal growth spurt, suggesting that an increase in these hormones is what has led to the higher morning glucose levels.Other options:- Inactivity at night-time: It is expected, and insulin dose should be adequate despite inactivity during the night.- Inadequate bedtime insulin: It is possible that this is a contributing factor. However, inadequate background insulin is also likely to result in high blood glucose in the day, which the question does not suggest.- Somogyi effect: There are no features suggestive of nocturnal hypoglycaemia that can cause the Somogyi effect.- Nocturnal glycogenesis: Glycogenesis would result in hypoglycaemia, not hyperglycaemia.

The most probable diagnosis based on the clinical presentation is myocarditis secondary to Coxsackie virus infection.Myocarditis is an important cause of acquired heart failure. The other infective causes of myocarditis are influenza and adenoviruses, and bacterial causes as seen with Borrelia burgdorferi (Lyme disease). Rheumatic fever is unlikely if the ASO titres are within normal limits. While pancarditis may occur as part of Kawasaki disease| the patient is unlikely to present in failure.

The recurrent laryngeal nerve (RLN) innervates all of the intrinsic muscles of the larynx except for the cricothyroid muscle, which is innervated by the superior laryngeal nerve (SLN).Patients with unilateral vocal fold paralysis present with postoperative hoarseness or breathiness. The presentation is often subacute. At first, the vocal fold usually remains in the paramedian position, creating a fairly normal voice. Definite vocal changes may not manifest for days to weeks. The paralyzed vocal fold atrophies, causing the voice to worsen. Other potential sequelae of unilateral vocal-fold paralysis are dysphagia and aspiration.Bilateral vocal-fold paralysis may occur after total thyroidectomy, and it usually manifests immediately after extubation. Both vocal folds remain in the paramedian position, causing partial airway obstruction. Patients with bilateral vocal-fold paralysis may present with biphasic stridor, respiratory distress, or both. On occasion, the airway is sufficient in the immediate postoperative period despite the paralyzed vocal folds. At follow-up, such patients may present with dyspnoea or stridor with exertion.

Synchronized IMV (SIMV) with pressure support, used in the alert infant. SIMV guarantees a minimum minute volume while allowing the patient to trigger spontaneousbreaths at a rate and volume determined by the patient. Extra breaths are boosted with pressure support. Tidal Volume (Vt) is normally approximately 6-10 mL/kg and 4-6 ml/kg in the preterm.Respiratory rate (RR) is usually 30-60 BPM. Tidal volume and respiratory rate are relatedto respiratory minute volume as follows: Vm(mL/min) = Vt x RR .This baby is overventilated with a low CO2. Tidal volumes should generally be targeted at 4–6 ml/kg and this baby is being targeted at 9 ml/kg which exposes the baby to damage to the distal airways from this ventilation which can lead to bronchopulmonary dysplasia.

Drug withdrawal symptoms after a period of substance abuse can lead to a range of symptoms. Amphetamines are known to cause hypersomnia, hyperphagia, and irritability, as well as vivid dreams as a result of withdrawal. Similar symptoms are found in cocaine withdrawal. Alcohol withdrawal presents with symptoms such as insomnia, tremulousness and delirium. Ecstasy withdrawal includes irritation, mood swings, fatigue and insomnia. Heroin withdrawal presents with symptoms which include dilated pupils, insomnia, abdominal cramps and muscle aches. Withdrawal from prolonged cannabis use can cause depression, anxiety restlessness and insomnia.

One-third of patients with Guillain-Barre syndrome suffer from diaphragm weakness which can lead to further respiratory complications if there is involvement of the tongue, palate, and neck muscles. Forced vital capacity (FVC) is the best way to monitor respiratory muscle function by assessing it repeatedly. Admission for ITU is suggested when FVC is below 20ml/kg and intubation recommended when FVC is 15ml/kg or below. FVC is used in any neurological disorders wherein the respiratory muscles are affected.

The main aim of randomisation in a clinical trial is to remove the bias and avoid any potential confounding variables. While in double blind studies both the investigators and the patients are not aware of which group they belong in, being blind is not essential in carrying out a randomized study, nor is it essential that the randomisation be done away from the study centre. A placebo also does not facilitate randomisation, which can be done in single centre and multi-centre trials.

Tanner stage two presents with the following: Downy hair, Breast bud palpable under areola (1st pubertal sign in females).Stage 1 (prepubertal) – elevation of papilla only – no pubic hairStage 2 – breast bud forms – sparse, slightly pigmented hair on labia majoraStage 3 – Breast begins to become elevated, extends beyond areola borders – hair becomes more coarse and curlyStage 4 – increased size and elevation. Areola and papilla form secondary mound – adult like, but sparing medial thighsStage 5 – final size, areola returns but papilla remains projected – hair extends to medial thighs

Macrosomia can be defined as either a birth weight greater than 4kg or birth weight greater than 90% for the gestational age. Risk factors for macrosomia include maternal diabetes, excessive gestational weight gain, pre-pregnancy obesity, male gender, ethnicity, and advanced gestational age. Genetic conditions associated with macrosomia are Bardet-Biedl syndrome, Perlman syndrome, Beckwith-Wiedemann syndrome, and Prader-Willi syndrome. Silver-Russell syndrome is associated with intrauterine growth retardation and post-natal failure to thrive.

Pierre Robin sequence is a condition present at birth, in which the infant has micrognathia, a tongue that is placed further back than normal (glossoptosis), and cleft palate. This combination of features can lead to difficulty breathing and problems with eating early in life. Pierre Robin sequence may occur isolated or be associated with a variety of other signs and symptoms (described as syndromic). The exact causes of Pierre Robin syndrome are unknown. The most common otic anomaly is otitis media, occurring 80% of the time, followed by auricular anomalies in 75% of cases. Hearing loss, mostly conductive, occurs in 60% of patients, while external auditory canal atresia occurs in only 5% of patients.

Infants exposed to maternal HIV and with positive results require immediate management with co-trimoxazole prophylaxis, regardless of their CD4 levels. Antiretroviral treatment is necessary as well but it could wait until further work-up is complete.

The characteristic cells in granulomatous inflammation are giant cells, formed from merging macrophages and epithelioid cells elongated with granular eosinophilic cytoplasm. Granulomatous reactions are seen in patients with tuberculosis. A tuberculous/caseating granuloma is characterised by a zone of central necrosis lined with giant multinucleated giant cells (Langhans cells) and surrounded by epithelioid cells, lymphocytes and fibroblasts. The caseous zone is present due to the damaged and dead giant cells and epithelioid cells.
Mast cells are only few in number and fibroblasts lay down collagen.
Basophils are not present.
The giant cell made up of macrophages are the most abundant cells in this inflammatory process.

The most probable diagnosis for this patient is bilateral retractile testes. This a normal phenomenon in some pre-pubertal boys. Rationale:Testicular descent can continue until about 3-months of age. The pre-pubertal testis is small enough that with activation of the cremasteric reflex, they can enter the inguinal canal. This in itself is a normal finding providing the testis can be brought into the scrotum without tension and does not require surgical correction. With time the testis will lie within the scrotum. Orchidopexy for true undescended testis can be performed from 6-months of age. It is also warranted if the testes remain undescended or intra-abdominally leading to infertility.Other options:- An ascending testis is one, typically, following hernia or orchidopexy surgery that was in the testis but with time is within the inguinal canal and cannot be brought into the scrotum. Orchidopexy is required for this.- No surgery is required as when the testis enlarges with puberty it will remain within the scrotum.- The testes can be brought into the scrotum. Therefore they are not undescended.- The testes are retractile not ascending| ascending testis cannot be brought into the scrotum and would require orchidopexy.

Based on the clinical scenario provided, the most probable diagnosis for this patient would be tuberous sclerosis which is an autosomal dominant condition.Among the options provided, only Neurofibromatosis Type 1 is inherited by an autosomal dominant pattern. Other options:- Beckwith-Wiedemann syndrome is an example of an imprinting disorder and results from abnormalities of inheritance or methylation of chromosome 11p15.- Cystic fibrosis is an autosomal recessive condition.- Duchenne Muscular Dystrophy is an example of an X-linked recessive condition.- Hypophosphataemic (Vitamin D resistant) rickets is an X-linked dominant condition.

Celiac disease has characteristic shortened intestinal villi. When patients with celiac disease eat products containing gluten, they are unable to absorb the nutrients due to flattened or shortened intestinal villi. The blistering rash present on the patient’s elbows strongly suggests celiac disease. This rash is a sign of the condition Dermatitis Herpetiformis which is associate with celiac disease. Therefore, it is also often called ‘gluten rash’.

Frequent regurgitation of milk and microcytic anaemia is suggestive of a hiatus hernia. The reflux causes regurgitation of milk and frequent ulceration of the lower oesophageal mucosa potentially resulting in blood loss and anaemia. Duodenal atresia usually presents with bilious vomiting and pyloric stenosis presents with projectile vomiting. Alpha 1 antitrypsin deficiency and cystic fibrosis usually do not present with vomiting.

Based on the clinical presentation, the pubic hair development is in Tanner stage 2.The Tanner stages for pubic hair are as follows:Stage 1 – pre-adolescentStage 2 – sparse hair that is long, slightly pigmented and downyStage 3 – hair spread over the junction of the pubes, darker and coarserStage 4 – adult-type hair, but the area covered is smaller than it is in an adult.Stage 5 – adult in quantity and type

During lumbar puncture, the first structures encountered by the needle are skin and subcutaneous tissue. But, since they are not provided in the options, the most superficial structure after them is the supraspinous ligament.Lumbar puncture is a procedure performed to obtain cerebrospinal fluid. The procedure is best performed at the level of L3/L4 or L4/5 interspace. During the procedure, the needle pierces the following structures in order from superficial to deep: Skin, subcutaneous tissue, supraspinous ligament, interspinous ligament, ligamentum flavum, the epidural space containing the internal vertebral venous plexus, dura, and arachnoid, finally entering the subarachnoid space. The supraspinous ligament connects the tips of spinous processes and the interspinous ligaments between adjacent borders of spinous processes.As the needle penetrates the ligamentum flavum, it causes a give. A second give is felt when the needle penetrates the dura mater and enters the subarachnoid space. At this point, clear CSF flows through the needle and can be collected for diagnostic purposes.

The level of statistical significance is often expressed as a p-value between 0 and 1. The smaller the p-value, the stronger the evidence that you should reject the null hypothesis.A p-value less than 0.05 (typically ≤ 0.05) is statistically significant. It indicates strong evidence against the null hypothesis, as there is less than a 5% probability the null is correct (and the results are random). Therefore, we reject the null hypothesis, and accept the alternative hypothesis.However, this does not mean that there is a 95% probability that the research hypothesis is true. The p-value is conditional upon the null hypothesis being true is unrelated to the truth or falsity of the research hypothesis.A lower p-value is sometimes interpreted as meaning there is a stronger relationship between two variables. However, statistical significance means that it is unlikely that the null hypothesis is true (less than 5%).To understand the strength of the difference between two groups (control vs. experimental) a researcher needs to calculate the effect size.

The commonest time for bacterial meningitis is in the 1st month of life and group B Streptococcus is the commonest organism. The anterior fontanelle is full, but does not bulge with normal flexion. Neurological manifestations include seizures, irritability, poor tone, lethargy and tremors, however no findings of sensorineural deafness have been noted. One of the risk factors for introduction of meningeal infection is Meningomyelocele.

The boy needs re-hydration and hydro-electrolytic re-balancing due to fluid losses from the gastroenteritis and subsequent dehydration.

Progressive vomiting due to pyloric stenosis leads to hypochloraemic, hypokalaemic, metabolic alkalosis.

Mature human breast milk is nutrient and enzyme rich, optimal for human infants. The average calorie requirement for a one month old infant is about 100kcal/kg/day. Lactose, the most abundant carbohydrate, is beneficial for the baby’s developing gastro intestinal system. The proteins in mature milk are mostly whey (as compared to a high proportion of casein in cows milk), which digests easily. Other proteins found in breast milk include immunoglobulin, lysozyme, lactoferrin and lactalbumin. In terms of micronutrients, while Vitamin K levels are low in breast milk, Vitamin A, C and E are found in higher concentrations than in cow’s milk.

Treatment of depression is an important component of maternal and neonatal health. The use of SSRIs and antidepressants in the first trimester are unlikely to carry any congenital risks. However the use of the antidepressants closer to delivery may result in some respiratory, motor, gastrointestinal and central nervous system problems, with the most concerning of these being persistent pulmonary hypertension of the new-born. Other conditions such as cleft palate, jaundice, neural tube defects or floppy baby syndrome have not been shown to occur with SSRI use.

Myelomeningocele is the most common type of open neural tube defect and a serious central nervous system disorder associated with significant morbidity. It is also called open spina bifida since the dura, and arachnoid matter herniates through the defect in the vertebral column. The commonest association is the decreased folate levels during early pregnancy. The alpha-fetoprotein levels are raised in the amniotic fluid. CSF leak is a common presentation with associated macrocephaly and hydrocephaly. Prenatal surgical repair is linked to a better prognosis.

The median nerve is a peripheral nerve originating in the cervical roots C5–T1 of the brachial plexus. It supplies motor innervation to the anterior forearm flexors, the thenar muscles, and the two lateral lumbricals as well as sensory innervation to the lateral palm and anterior, lateral three and a half fingers. Motor and sensory deficits depend on whether the lesion is proximal (above the elbow) or distal (below the elbow). While proximal lesions present with the “hand of benediction,” distal lesions present with either the “pinch sign” (anterior interosseous nerve syndrome) or, in the case of carpal tunnel syndrome, with mildly impaired thumb and index finger motion. Both proximal lesions and carpal tunnel syndrome result in reduced sensation in the area of the thumb, index and middle finger. Anterior interosseus nerve syndrome does not cause any sensory deficits. Chronic injuries to the nerve result in atrophy of median nerve innervated muscles while acute injuries do not have this feature. Treatment is mostly conservative and focuses on rest and immobilization.

Tinea corporis is a type of dermatophytosis, caused by Trichophyton or Microsporum. The disease is highly contagious and rapidly spreads to all the areas of the body. It produces an itchy rash with a central area of clearance surrounded by raised scaly borders. Diagnosis can be made by skin examination. All other mentioned conditions do not affect the palms and soles.

The most probable diagnosis in this patient is lead poisoning.Lead poisoning: While it is not common, it can be potentially fatal. One of the key presenting features here is pica, the ingestion of non-nutritive substances such as soil, soap, paper or wood. Pica can also be observed in children in iron-deficiency anaemia, developmental delay and pregnancy. However, in a child who is exposed to lead in their environment (e.g. from lead paint or pipes), lead poisoning is most likely. It is commonly associated with iron deficiency which in turn increases the lead absorption. Treatment is either with oral D-penicillamine or intravenous sodium calcium edetate.

In the final result of this double blind study, 25% or one in four of patients who received the treatment responded positively. Though the difference is significant at P<0.05, it is better to present this as a significant difference at 0.4%. The number needed to treat (NNT) is defined as the inverse of the absolute risk reduction. Taking this as 0.25 (25%), the NNT is 1/0.25 = 4. However given the 95% confidence interval is between 10-50% for absolute risk reduction, the NNT with 95% CI is between 2 and 10. Therefore we cannot say with certainty that the NNT is at least 4.

Vagus nerve lesions will affect the gag reflex since the pharyngeal muscles are innervated by it.The vagal nerve (10th cranial nerve ) is a mixed nerve carrying motor efferents and sensory afferents. The nerve conducts five distinct qualities, which are carried along general visceral efferent fibres (parasympathetic innervation of pharyngeal, laryngeal, bronchial, and gastrointestinal mucosa), general visceral afferent fibres (sensory information from the thoracic and abdominal viscera, the aortic body, aortic arch), special visceral afferent fibres (carry the taste of the epiglottal region), general somatic afferent fibres (carry sensation from the external auditory meatus, outer tympanic membrane, back of the ear, part of meninges, pharynx), and along special visceral efferent fibres, which innervate skeletal muscles of the pharynx and larynx. Skeletal muscles innervated by the vagal nerve include the cricothyroid, levator veli palatini, salpingopharyngeus, palatoglossal, palatopharyngeus pharyngeal constrictor, and the laryngeal muscles (except cricothyroid). Innervation of these muscles is involved during speech or opening of the larynx during breathing. Efferent parasympathetic fibres control heart rate, peristalsis, and sweating. Stimulation of the efferent parasympathetic fibres lowers heart rate or blood pressure. 80–90% of the vagal fibres are afferent, only 10–20% are efferent fibresPhysical exam of the 10th cranial nerve includes eliciting the gag reflex (The gag reflex involves a brisk and brief elevation of the soft palate and bilateral contraction of pharyngeal muscles evoked by touching the posterior pharyngeal wall.), to look if the uvula is deviated from the side of the lesion, if there is failure of palate elevation upon phonation, and evaluation of speech impairment.In case of bilateral vagal nerve lesions, heart rate and breath rate may be increased. The somatic sensory function can be assessed by testing the sensibility of the external auditory meatus.

Among the given options, the inability to grip a sheet of paper between his fingers when the hand is placed flat on the table is the feature of ulnar nerve injury. Rationale:The ulnar nerve (usually) supplies sensation to the skin of the fifth and the ulnar side of the fourth finger, front and back. Following the injury of the nerve, the following functions are impaired:- There is a sympathetic interruption, with the absence of sweating in the affected area. – The thenar muscles are supplied by the median nerve and are therefore spared. – The ulnar nerve also supplies the muscles of the hypothenar eminence. – Although the ring and little fingers are held in the clawed position when the nerve is injured at the wrist, a high lesion paralyses the long flexors to these two fingers and results in the loss of this sign. The test for paralysis of the palmar interossei, supplied by the ulnar nerve, is the inability to adduct the fingers and thus to be unable to grip a sheet of paper between them.

Among the options provided, zidovudine causes lipoatrophy as a side effect.Zidovudine: Although both hypertrophy and atrophy are described related to HIV medications, nucleoside reverse transcriptase inhibitor (NRTIs) such as zidovudine and stavudine are closely associated with fat loss.Other options:- Enfuvirtide is an HIV-fusion inhibitor. Lipoatrophy is not commonly associated with this drug.- Efavirenz is an NNRTI, which is not associated with lipoatrophy. Common side effects include neuropsychiatric effects, rash and nausea. – Ganciclovir is not an anti-HIV medication and is used for cytomegalovirus (CMV) infections.- Raltegravir is an integrase inhibitor and is associated with fat gain.

Neurofibromatosis (aka Von Recklinghausen’s disease) includes: neurofibrosarcomas, pheochromocytoma, optic nerve tumours, scoliosis and acoustic neuromas.

Normal cerebrospinal fluid (CSF) glucose together with lymphocytosis, an increased opening pressure and raised CSF protein are typical of a viral meningitis.

The Kaplan–Meier estimator, also known as the product limit estimator, is a non-parametric statistic used to estimate the survival function from lifetime data. In medical research, it is often used to measure the fraction of patients living for a certain amount of time after treatment.

Hirschsprung’s disease is characterized by congenital absence of the autonomic plexus (Meissner’s and Auerbach’s plexus) in the intestinal wall. Usually limited to the distal colon, it can occasionally involve the entire colon or even the small bowel. There is abnormal or absent peristalsis in the affected segment, resulting in continuous spasm of smooth muscle and partial/complete obstruction. This causes accumulation of intestinal contents and dilatation of proximal segment. Skip lesions are highly uncommon. This disease is seen early in life with 15% patients presenting in first month, 60% by 1 year of age and 85% by the age of 4 years. Symptoms include severe and complete constipation, abdominal distension and vomiting. Patients with involvement of ultra-short segments might have mild constipation with intervening diarrhoea. In older children, symptoms include failure to thrive, anorexia, and lack of an urge to defecate. On examination, an empty rectum is revealed with stool palpable high up in the colon. If not diagnosed in time, it can lead to Hirschsprung’s enterocolitis (toxic megacolon), which can be fulminant and lead to death. Diagnosis involves a barium enema or a rectal suction biopsy. Barium enema shows a transition in diameter between the dilated, normal colon proximal to the narrowed, affected distal segment. It is to be noted that barium enema should be done without prior preparation, which can dilate the abnormal segment, leading to a false-negative result. A 24-hour post-evacuation film can be obtained in the neonatal period – if the colon is still filled with barium, there is a high likelihood of Hirschsprung’s disease. Full-thickness rectal biopsy is diagnostic by showing the absence of ganglion cells. Acetylcholinesterase staining can be done to highlight the enlarged nerve trunks. Abnormal innervation can also be demonstrated by rectal manometry.

Proteinuria refers to an increased amount of protein excretion in urine, which should be greater than 100mg/m2 per day on a single spot urine collection. The limit is even more relaxed for infants and neonates. Proteinuria is a prominent manifestation of cystinosis, acute tubular necrosis, Fanconi syndrome, and celiac disease. Landau-Kleffner syndrome is a rare childhood convulsive disorder, associated with acquired aphasia and auditory verbal agnosia.

In older children who are able to have regular meal timings, the insulin regimen of choice is the basal-bolus regimen, which comprises a dose of long-acting insulin in combination with three doses of short-acting insulin. The dosage timings coincide with the meal times, ensuring greater flexibility and feasibility. The long-acting insulin serves to provide a stable glycaemic control. The other given regimens are suitable for younger children with a more irregular meal schedule.

Breast feeding should be continued for babies with breast milk jaundice as this is a benign condition.

The peroneus brevis muscle originates from the lower two-thirds of the lateral body of the fibula and has inserts at the base of the fifth metatarsal. Fractures to this bone are common and can be due to infection, trauma, overuse and repetitive use.

The lateral spinothalamic tracts carry pain and temperature sensations from the peripheries to the central nervous system.Note:The spinothalamic tract transmits impulses from receptors which measure crude touch, pain and temperature. The spinothalamic tract comprises the lateral and anterior spinothalamic tracts.The former typically transmits pain and temperature while the latter transmits crude touch and pressure. Neurones transmitting these signals will usually ascend by one or two vertebral levels in the Lissauer tract before decussating in the spinal cord itself. Neurones then pass rostrally in the cord to connect at the thalamus.

Doctors must perform an infection screen and treat with intravenous antibiotics for at least 48 hours pending results to prevent neonatal sepsis. Risk factors for neonatal sepsis include rupture of the membranes. Risk factors for neonatal sepsis include rupture of membranes greater than 12–24 hours, intrapartum maternal pyrexia (> 38°C), fetal tachycardia, chorioamnionitis, pre-term birth and maternal colonisation with group B Streptococcus. In this case there are two risk factors: prolonged rupture of membranes, and pre-term birth.

The next step in the management of this patient is starting a normal saline fluid bolus, following which we should send samples for blood culture, lactate and C-reactive protein. The patient is probably a case of anorexia nervosa (AN).Note:Children with AN are at higher risk of developing infections, and this needs to be considered in this case. Patients with AN may not respond in the usual fashion to sepsis as they may not mount a fever in response to infection. Hypoglycaemia (especially when severe or persistent despite correction) should raise the alarm for an infection as should tachycardia and cool peripheries. Children with severe AN are more likely to be bradycardic. Therefore, a tachycardia should cause the clinician to consider that another process is going on.Other options:- Correcting electrolyte abnormalities is, of course, very important. However, while these are awaited, one needs to consider that this patient is septic and managed accordingly. Children with anorexia nervosa (AN) may have a whole host of electrolyte abnormalities, some of which can be treated with oral or nutritional supplementation although sometimes intravenous correction is required. Electrolytes need to be checked frequently during admission because of the risk of refeeding syndrome, and dietetic input is required to advise on appropriate starting intake.- While maintenance fluids like dextrose are likely to be needed in this case, consideration needs to be given to the underlying cause of the hypoglycaemia. As the sugar has come up following a glucose bolus, a 10% dextrose infusion would be excessive.- An ECG should form a part of any assessment of a child with AN. In this case, it would not be the first thing| however, as part of the acute management of this child, cardiac monitoring should be commenced. One would usually expect a child with AN to be bradycardic so a tachycardia should raise suspicion that another process is going on.- Dietary input will be vital for this child’s ongoing management. However, their acute issues take precedence in this case. Nevertheless, a dietician should be informed and involved from an early stage.

The presentation is suggestive of nephrotic syndrome. A trial of corticosteroids is the first step in treatment of idiopathic nephrotic syndrome. Diuretics are useful in managing symptomatic oedema. Cyclosporin and cyclophosphamide are indicated in frequently relapsing and steroid dependant disease.

Because the initial chest X-ray returned an anomaly, a skeletal survey is the best option. Also known as a bone survey, the skeletal survey is a series of X-rays that will help analyse the structure of all the bones in the body. Because the child is not very active yet presents with bruising, the child protection register should also be checked but only after a skeletal survey has been conducted.

Because the medical history included tonsillitis followed by haematuria and hypertension, there is a strong suspicion of a case of post-streptococcal glomerulonephritis (PSGN). Patients with PSGN usually have serological findings showing depressed serum haemolytic component CH50 and serum concentrations of C3. Sometimes depressed C4 levels are also apparent, but not always, therefore, the answer to this question is: depressed CH50 level.

Alopecia areata is seen in 6-8.8% of patients with Down syndrome, but only 0.1% of patients with alopecia areata have Down syndrome. The high frequency of alopecia areata in patients with Down syndrome suggests that a genetic linkage for alopecia areata may exist on chromosome 21.

It is recommended that a woman wait one month after stopping isotretinoin before trying to become pregnant. Usually, isotretinoin is no longer found in a woman’s blood 4-5 days after the last dose and most of its by-products should be gone within 10 days after the last dose.

A consultation with an ENT is required to establish the reason for the child’s drooling and stridor indicating and obstructive process. Enlarged tonsils and adenoids should be checked.

The clinical scenario presented is highly suggestive of vitamin C deficiency (Scurvy).Vitamin C is found in citrus fruits, tomatoes, potatoes, Brussel sprouts, cauliflower, broccoli, cabbage and spinach. Deficiency leads to impaired collagen synthesis and disordered connective tissue. Scurvy is associated with severe malnutrition as well as drug and alcohol abuse, and those living in poverty with limited access to fruits and vegetables.Symptoms and signs include:- Follicular hyperkeratosis and perifollicular haemorrhage- Ecchymosis- Gingivitis with bleeding and receding gums- Sjogren’s syndrome- Arthralgia- Oedema- Impaired wound healing- Generalised symptoms such as weakness, malaise, anorexia and depression

The signs and symptoms of vitamin D-dependent rickets begin within months after birth, and most are the same for all types of the condition. The weak bones often cause bone pain and delayed growth and have a tendency to fracture. When affected children begin to walk, they may develop abnormally curved (bowed) legs because the bones are too weak to bear weight. Impaired bone development also results in widening of the metaphysis, especially in the knees, wrists, and ribs. Some people with vitamin D-dependent rickets have dental abnormalities such as thin tooth enamel and frequent cavities. Poor muscle tone (hypotonia) and muscle weakness are also common in this condition, and some affected individuals develop seizures.

Among the options provided, a 1-year-old child will be able to understand object permanence e.g. understands that objects continue to exist even when they can’t be seen, e.g. looking for a fallen toy.At the age of 1 year, children should have developed an accurate pincer grip and be able to see and co-ordinate and manipulate fairly small objects such as a raisin.Gross motor development varies, but the average 1-year-old should be able to stand and cruise around furniture or walk with their hands held but not necessarily walk unaided.Drinking from a cup will become established at around 15 months and scribbling at 18 months.

NICE guidelines suggest that when a child’s single risk factor is 2 vomits, the child should be observed for 4 hours from the time of the injury, instead of having a CT.

Tricuspid atresia is the third most common form of cyanotic congenital heart disease, with a prevalence of 0.3-3.7% in patients with congenital heart disease. The deformity consists of a complete lack of formation of the tricuspid valve with the absence of a direct connection between the right atrium and right ventricle.The following 3 considerations guide the treatment of infants with tricuspid atresia:- The amount of pulmonary blood flow must be regulated to decrease hypoxemia or symptoms of congestive heart failure.- Myocardial function, the integrity of the pulmonary vascular bed, and pulmonary vascular integrity must be preserved to optimize conditions for a later Fontan operation.- The risk of bacterial endocarditis and thromboembolism must be minimized.Infants with decreased pulmonary blood flow: encompasses most of the infants with tricuspid atresia.Marked cyanosis and hypoxemia characterize the clinical course. Acidaemia may occur if the hypoxemia is profound, and death can ensue.Promptly treat infants with severe hypoxemia with prostaglandin E infusions to maintain patency of the ductus arteriosus and improve pulmonary blood flow.Infants with increased pulmonary blood flow: These infants have an associated unrestrictive ventricular septal defect and transposed great vessels.They present with severe congestive heart failure and benefit from digitalis and diuretic therapy until an operative intervention can be undertaken to restrict the pulmonary blood flow.

Haemophilia B (also known as Christmas disease) is due to a deficiency in factor IX. Haemophilia A is due to a deficiency in factor VIII.

The Chi squared test is used to find the relationship between two variables, determining whether they are not independent of each other. This test of statistical significance allows you to determine the degree of confidence with which you can accept or reject the null hypothesis. The student t test compares the significant differences in data means, while rank correlation, linear regression and the correlation coefficient all help to measure the linear relationship between variables.

Bernard- Soulier Syndrome results from a deficiency of platelet glycoprotein protein Ib, which mediates the initial interaction of platelets with the subendothelial components via the von Willebrand protein. It is a rare but severe bleeding disorder. Platelets do not aggregate to ristocetin. The platelet count is low, but, characteristically, the platelets are large, often the size of red blood cells, and may be missed on complete blood counts because most automatic counters do not count them as platelets.

The clinical scenario provided is highly suggestive of third-degree burns (or full-thickness burns) that may have invaded the deeper levels up to dermis, evident from the insensate nature of the lesion.Degrees of Burns:- First degree burns are superficial second-degree burns.- Second-degree burns are just deeper than that of first-degree burns but vary enormously in other properties.- Third-degree burns are full-thickness burns which are leathery in consistency, and insensate. These burns do not heal on their own. The sensory neurons present in the skin at the deeper levels are destroyed completely and hence provide a paradoxical lack of pain.- Fourth-degree burns involving the subcutaneous tissues, tendons, and bones are very difficult to manage.Assessment of the extent of the burns for the treatment employs specialized charts, such as Lund and Browder charts and Wallace rule of nines.The Lund and Browder chart is, however, considered the most accurate.Wallace’s Rule of Nines can be used for children >16 years: – Head + neck = 9%- Each arm = 9%- Each anterior part of leg = 9%- Each posterior part of leg = 9%- Anterior chest = 9%- Posterior chest = 9%- Anterior abdomen = 9%- Posterior abdomen = 9%

Haemolytic uremic syndrome belongs to a heterogeneous group of disorders characterized by a triad of thrombocytopenia, microangiopathic haemolytic anaemia, and acute kidney injury. It is one of the most common causes of renal injury in children. The clinical findings are due to thrombotic microangiopathy, which leads to arterioles and capillary wall thickening along with endothelial swelling and detachment. The significant laboratory findings include increased white cell count, raised serum urea and creatinine, increased serum LDH, decreased platelet count, haematuria, and proteinuria.

Erythema nodosum (EN) is an acute, nodular, erythematous eruption that usually is limited to the extensor aspects of the lower legs. It is a delayed hypersensitivity reaction to a variety of antigens| circulating immune complexes have not been found in idiopathic or uncomplicated cases but may be demonstrated in patients with inflammatory bowel disease.Currently, the most common cause of erythema nodosum is a streptococcal infection in children and streptococcal infection and sarcoidosis in adultsIn most patients, erythema nodosum is a self-limited disease and requires only symptomatic relief using nonsteroidal anti-inflammatory drugs (NSAIDs), cool wet compresses, elevation, and bed rest.

Recommended regimens3 NRTI (e.g., zidovudine, lamivudine, abacavir) OR2 NRTI (e.g., lamivudine + abacavir) AND1 NNRTI (e.g., efavirenz) OR1 PI (e.g., lopinavir) OR1 INI (e.g., raltegravir)

Ataxic gait is not a direct association of Down’s syndrome. All other given responses are associated with Down’s syndrome.

Prophylactic antibiotics should be given to the child to avoid infections and renal injury.

The type of significance test used depends on whether the data is parametric (can be measured, usually normally distributed) or non-parametric.
Parametric tests:
Student’s t-test – paired or unpaired*
Pearson’s product-moment coefficient – correlation

Non-parametric tests:
Mann-Whitney U test – unpaired data
Wilcoxon signed-rank test – compares two sets of observations on a single sample
chi-squared test – used to compare proportions or percentages
Spearman, Kendall rank – correlation.

The outcome measured is not normally distributed, i.e. it is non-parametric. This excludes the Student’s t-tests. We are not comparing percentages/proportions so the chi-squared test is excluded. The Mann–Whitney U test is a nonparametric test of the null hypothesis that it is equally likely that a randomly selected value from one sample will be less than or greater than a randomly selected value from a second sample.
This test can be used to investigate whether two independent samples were selected from populations having the same distribution.

Von Hippel-Lindau syndrome is a genetic disorder inherited in autosomal dominant fashion. It is caused by the mutations of the VHL gene located on chromosome 3. The syndrome is characterized by the creation of multiple benign and malignant tumours involving various bodily systems along with the formation of numerous visceral cysts, including the renal and epididymal cysts. Down’s syndrome is associated with renal cysts, but it does not follow the autosomal dominant mode of inheritance, rather it is caused by non-disjunction of chromosome 21 during meiosis. Exomphalos is a defect of the medial abdominal wall leading to abnormal protrusion of abdominal viscera through it. It is not associated with renal cysts. Turner’s syndrome may be associated with renal cysts formation, but it is not transmitted in an autosomal dominant fashion. Polycystic kidney disease of childhood follows an autosomal recessive pattern of transmission.

Congenital hypertrophy of the retinal pigment epithelium is one of FAP’s extra-intestinal manifestations. It appears in early childhood and affects an estimated 90% of those with FAP.

Cluster headaches present with unilateral severe headache that may be associated with ipsilateral cranial autonomic symptoms including| lacrimation, rhinorrhoea, ophthalmic injection, and occasionally, Horner syndrome (ipsilateral miosis, ptosis, and facial anhidrosis).

Embryologically the testes are retroperitoneal structures in the posterior abdominal wall, attached to the anterolateral abdominal wall by the gubernaculum. The gubernaculum ‘pulls’ the testes through the deep inguinal ring, inguinal canal and superficial inguinal ring and over the pelvic brim. The gubernaculum is preceded by the processus vaginalis that is derived from the peritoneum anterior to the testes. The processus vaginalis pushes the muscle and fascial layers. These eventually make up the canal and the spermatic cord, into the scrotum. The gubernaculum persists as the scrotal ligament while part of the processus vaginalis remains as a bursa-like sac i.e. the tunica vaginalis testes. The testes therefore could be caught in any one of these places along its path of descending. The testes are never in the perineum.

One of the options of Psoriasis treatment is vitamin D analogues i.e. calcipotriol. Acne is exacerbated by steroids. Erythema nodosum can be caused by various diseases and the treatment of the primary condition resolves the symptoms. Lipomas requires surgery, whereas Steven-Johnson syndrome requires use of steroids and eliminating the culprit drug, which is one of the most common causes.

NICE guidelines suggest that at the premonitory stage (pre-hospital) the patient should receive Diazepam 10−20 mg given rectally, or midazolam 10 mg given buccally. If seizures continue, the patient should receive lorazepam IV.

WHO states that diabetes can be diagnosed from a single fasting glucose of > 7.0 mmol/l with characteristic symptoms or a glucose level of > 11.1 mmol/l 2 hours after a glucose load. Two fasting glucose levels of > 7.0 mmol/l on separate occasions can also fit the diagnosis in the absence of characteristic symptoms.

Upper respiratory tract infection when not treated accordingly can lead to otitis media and the patient presents with severe earache and fever.

Common neurological symptoms of Wilson disease that may appear and progress with time include tremor, involuntary movements, difficulty swallowing (dysphagia), difficulty speaking and poor articulation (dysarthria), lack of coordination, spasticity, dystonic postures, and muscle rigidity.

Androgen insensitivity syndrome (AIS), previously referred to as testicular feminization, is an X-linked disorder in which the patients are genotypically male (possessing and X and Y chromosome) and phenotypically female. This disorder is rare, with reported incidences from 1 in 20,000 to 1 in 60,000 live male births, and is the result of a missing gene on the X chromosome that is responsible for the cytoplasmic or nuclear testosterone receptor. In its absence, the gonad, which is a testis, produces normal amounts of testosterone| however, the end tissues are unable to respond due to the deficient receptors leading to the external genitalia developing in a female fashion. Anti-Mullerian hormone, which is produced by the testis, is normal in these patients, leading to regression of the Mullerian duct. Wolffian duct development, which depends on testosterone, does not occur as the ducts lack the receptors. The cumulative effect is a genotypic male with normal external female genitalia (without pubic or axillary hair), no menses, normal breast development, short or absent vagina, no internal sex organs, and the presence of testis. Frequently, these patients have bilateral inguinal hernias in childhood, and their presence should arouse suspicion of the diagnosis.

The Glasgow Coma Scale, being inappropriate for use in children (especially below the age of 5) as they are unable to elicit the verbal response as per the adult GCS. Therefore, GCS for the paediatric age group was modified to Adelaide coma scale (ACS), which is stated as follows:Best Eye Response (as in adult scale):Spontaneous – 4To speech – 3To pain – 2No response – 1Best Verbal Response:Oriented – 5Words – 4Vocal sounds – 3Cries – 2No response – 1Best Motor Response (as in adult scale):Obeys commands – 5Localises pain – 4Flexion to pain – 3 Extension to pain – 2No response – 1 The described child scores:Eye response – 1| Verbal response – 3| Motor response – 4Thus, bringing the total ACS score to 8.

The incubation periods of disorders is extremely important to diagnose, treat, prevent or attenuate a disease. Chickenpox: 7-21 days. Whooping cough: 10-14 days. Hand, foot and mouth disease: 2-6 days. German measles: 14-21 days. Mumps: 14-18 days.

Bilirubin encephalopathy (BE), also known as kernicterus is a preventable complication of neonatal jaundice. Bilirubin deposits in the basal ganglia, hippocampus, geniculate bodies and cranial nerve nuclei, exerting direct neurotoxic effects and causing mass-destruction of neurons by apoptosis and necrosis.The clinical features of this diagnosis have been well described and can be divided into 3 stages:Phase 1 (first few days of life): Decreased alertness, hypotonia, and poor feeding are the typical signs. Obviously, these are quite nonspecific and could easily be indicative of a multitude of neonatal abnormalities. A high index of suspicion of possible BIND at this stage that leads to prompt intervention can halt the progression of the illness, significantly minimizing long-term sequelae. Of note, a seizure is not typically associated with acute bilirubin encephalopathy.Phase 2 (variable onset and duration): Hypertonia of the extensor muscles is a typical sign. Patients present clinically with retrocollis (backward arching of the neck), opisthotonos (backward arching of the back), or both. Infants who progress to this phase develop long-term neurologic deficits. Phase 3 (infants aged >1 wk): Hypotonia is a typical sign.

NICE does not recommend the use of antibiotics or tonsillectomy in this case. Paracetamol/Ibuprofen are indicated as they provide antipyretic action and analgesia. Indications for tonsillectomy are 5 or more episodes of acute sore throat/year, symptoms present for at least 2 years, symptoms are severe enough to disrupt a child’s social life. Indications for antibiotics are features of marked systemic upset secondary to the acute sore throat, unilateral peritonsillitis, history of rheumatic fever, an increased risk from acute infection, acute tonsillitis with 3 or more of the following: history of fever, tonsillar exudates, no cough and tender anterior cervical lymphadenopathy.

Somogyi effect presents with night-time hypoglycaemia followed by early-morning hyperglycaemia, hence the glycosuria.

Minimal change disease is a type of glomerulonephritis that mostly affects younger children. Proteinuria is present which leads to body oedema. But in these patients blood pressure is normal.

The post-ingestion plasma level, which is required in order to guide the treatment, reaches a peak at 4 hours. Levels requiring antidote (N-acetyl cysteine) include: 100 mcg per ml at 4 hours, 35 mcg per ml at 10 hours and 25 mcg per ml at 12 hours. These levels are in conjunction with the levels recorded and they should all be put down on a treatment nomogram.

Combined oral contraceptive pills have an anti ovulatory function and also reduce the pain of menstruation.

The most common manifestation of Wilms tumour is an asymptomatic abdominal mass| an abdominal mass occurs in 80% of children at presentation. Abdominal pain or haematuria occurs in 25%. Urinary tract infection and varicocele are less common findings than these. Hypertension, gross haematuria, and fever are observed in 5-30% of patients. A few patients with haemorrhage into their tumour may present with hypotension, anaemia, and fever. Rarely, patients with advanced disease may present with respiratory symptoms related to lung metastases.

Anorexia nervosa is a serious, psychiatric eating disorder characterized by distorted self-image due to which abnormal eating behaviours are adopted. This disorder affects multiple bodily systems, including the gastrointestinal system. The GI manifestations of anorexia are enlarged salivary glands due to purging behaviour, gastritis, gastroparesis, acute gastric dilatation, superior mesenteric artery syndrome, elevated liver transaminases, which cause hepatocyte apoptosis leading to cirrhosis, and steatosis leading to fatty liver. Hepatosplenomegaly is not a recognized complication of anorexia nervosa.

Congenital heart defects are common (40-50%)| they are frequently observed in patients with Down syndrome who are hospitalized (62%) and are a common cause of death in this aneuploidy in the first 2 years of life.The most common congenital heart defects are the following:- Endocardial cushion defect (43%), which results in atrioventricular septal defect (AVSD)/AV canal defect- Ventricular septal defect (32%)- Secundum atrial septal defect (10%)- Tetralogy of Fallot (6%)- Isolated patent ductus arteriosus (4%).About 30% of patients have more than one cardiac defect. The most common secondary lesions are patent ductus arteriosus (16%), atrial septal defect, and pulmonic stenosis (9%). About 70% of all endocardial cushion defects are associated with Down syndrome.Valve abnormalities, such as mitral valve prolapse or aortic regurgitation may develop in up to 40-50% of adolescents and adults who were born without structural heart disease.

The trigeminal nerve is responsible for the sensory innervation of the head, and the muscles of mastication. The nerve is divided into three branches, the ophthalmic nerve (V1) the mandibular nerve (V2) and the maxillary nerve (V3) which all exit the skull through their respective foramina. An easy way to remember these foramina is with the following mnemonic:Standing Room Only, for V1-V3 respectivelyV1- Superior orbital FissureV2- foramen RotundumV3 foramen Ovale

Atopic dermatitis (AD), also called atopic eczema, is a common chronic or recurrent inflammatory skin disease and affects 15-20% of children and 1-3% of adults worldwide. It is characterized by acute flare-ups of eczematous pruritic lesions over dry skin.The incidence has increased by 2- to 3-fold during the past decades in industrialized countries.Some of the most valuable AD prevalence and trend data have come from the International Study of Asthma and Allergies in Childhood (ISAAC). This is the biggest (close to 2 million children in 100 countries) and only allergy study that has taken a truly global approach. The strength of the study is the use of a uniformly validated methodology allowing a direct comparison of results between paediatric populations all over the world (http://isaac.auckland.ac.nz/index.html).

3-year-old milestonesSocial and EmotionalCopies adults and friends Shows affection for friends without prompting Takes turns in games Shows concern for crying friend Understands the idea of “mine” and “his” or “hers” Shows a wide range of emotions Separates easily from mom and dad May get upset with major changes in routineDresses and undresses self Language/CommunicationFollows instructions with 2 or 3 steps Can name most familiar things Understands words like “in,” “on,” and “under” Says first name, age, and sexNames a friend Says words like “I,” “me,” “we,” and “you” and some plurals (cars, dogs, cats) Talks well enough for strangers to understand most of the time Carries on a conversation using 2 to 3 sentences Cognitive (learning, thinking, problem-solving)Can work toys with buttons, levers, and moving parts Plays make-believe with dolls, animals, and people Does puzzles with 3 or 4 pieces Understands what “two” means Copies a circle with a pencil or crayon Turns book pages one at a time Builds towers of more than 6 blocks Screws and unscrews jar lids or turns the door handle Movement/Physical DevelopmentClimbs well Runs easily Pedals a tricycle (3-wheel bike) Walks up and downstairs one foot on each step

The boy has an increased BMI which implies he is overweight. Possible trauma to his pancreas might have led to a diabetes-like condition, induced by damage to the beta cells. Fasting blood glucose should be measured as a follow-up strategy to see if the damage is reversible or irreversible and to conclude if the glycosuria is related to his metabolic profile or to his accident.

By the age of three months a child should become more fascinated with their hands and fingers| they can bring their hand to their mouth, open and close their hand, and shake and grab at dangling objects and toys. Their ability to roll over will come by the time the child is 6 months, at which time they will also be able to sit with support. Soon, at 8-9 months, attempts will be made to crawl and as they approach 12 months they will be able to pull on objects to stand.

Primary sclerosing cholangitis (PSC) is a long-term progressive disease of the liver and gallbladder characterized by inflammation and scarring of the bile ducts which normally allow bile to drain from the gallbladder. Early cholangiographic changes can include fine or deep ulcerations of the common bile duct. As PSC progresses, segmental fibrosis develops within the bile ducts, with saccular dilatation of the normal areas between them, leading to the typical beads-on-a-string appearance seen on cholangiography. Although these strictures can be found anywhere on the biliary tree, the intrahepatic and extrahepatic bile ducts are simultaneously involved in the vast majority of cases.

Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder affecting branched-chain amino acids. It is one type of organic academia. The condition gets its name from the distinctive sweet odour of affected infants’ urine, particularly prior to diagnosis, and during times of acute illness. MSUD, also known as branched-chain ketoaciduria, is an aminoacidopathy due to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine.

Cricothyroidectomy is done in life threatening condition, where an incision is made in cricothyroid membrane to establish a patent airway.

Many of the symptoms favour blast cells: the patient’s young age| a reoccurring sore throat caused by neutropenia and abnormal lymphoblasts| pale conjunctiva due to reduced production of red blood cells (this is because the marrow has been occupied by blast cells). There are no risk factors present for aplastic anaemia, and congenital aplastic anaemia would present itself earlier in life. A bone marrow aspiration would be needed to confirm the diagnosis.

Lamotrigine does not significantly increase risk of birth defects during pregnancy.

Cytomegalovirus (CMV) is the most frequent cause of congenital infection worldwide, with an estimated incidence in developed countries of 0.6–0.7% of all live births.The clinical spectrum of congenital CMV infection varies widely, from the complete absence of signs of infection (asymptomatic infection) to potentially life-threatening disseminated disease. At birth, 85–90% of infected infants are asymptomatic, and 10–15% present with clinical apparent infection (symptomatic disease).The presentation in this latter group is a continuum of disease expression whose more common findings are petechiae, jaundice, hepatomegaly, splenomegaly, microcephaly, and other neurologic signs.

H. pylori release the enzyme urease that has the ability to split urea releasing nitrogen. This process increases the pH in the gastric antrum making the gastric pH less acidic.Helicobacter pylori:It is a spiral, microaerophilic, gram-negative bacterium. It is one of the most common causes of antral gastritis in children. Ulcers are less common in children compared with adults| however, when they occur, they are more common in the duodenum.The presence of H.pylori can be confirmed by:- Stool antigen test (preferred)- Serology- Endoscopy with biopsy and culture- Rapid urease testsH.pylori gastritis may be associated with:- Iron deficiency anaemia- Gastric malignancy Management:The treatment is with triple therapy- two antibiotics, and an antacid.Treatment failure is often attributed to a possible worldwide increase in macrolide resistance. Interestingly, children have higher antibiotic resistance compared with adults.Note:Zollinger-Ellison syndrome (ZES) causes gastrin-secreting tumours and can present as a part of multiple endocrine neoplasia type 1 (MEN1)- an autosomal dominant disorder.

The most probable cause for the patient’s presenting symptoms is encephalitis secondary to measles infection.Encephalitis:Encephalitis occurs in 1 per 1000 measles cases. It usually presents within 1–14 days of the rash, usually day 5. It may present with fever, headache, vomiting, stiff neck, meningeal irritation, drowsiness, seizures, reduced consciousness| 15% will have neurological sequelae| 10% mortality.Other options:- Acute disseminated encephalomyelitis occurs in 1 per 1000 measles cases. It is thought to be a postinfectious immune response. Clinical manifestations include fever, headache, neck stiffness, seizures and mental status changes. It could fit this presentation although it tends to present in the recovery phase of measles infection, typically two weeks after the exanthem. In contrast, encephalitis tends to occur within a few days of the rash.- The history is not that of a typical febrile seizure as it lasted >15 minutes. He has also not recovered consciousness at 4 hours. The diazepam should have been eliminated within 4 hours and so should no longer be contributing to his reduced level of consciousness. Also, the history states the recent diagnosis of measles, and so complications of measles should be considered.- Intracranial bleed secondary to thrombocytopenia: Measles is not known to cause thrombocytopenia.- Subacute sclerosing panencephalitis (also known as Dawson’s encephalitis): This is an extremely rare complication of measles. It is a progressive degenerative disease of the central nervous system that occurs 7–10 years after a measles infection. The treatment for SSPE is mainly intraventricular interferon therapy through an Ommaya reservoir. The prognosis is poor, and it is usually fatal.

Lesions caused by herpes simplex virus may appear in various clinical stages. They are usually the result of an HSV-1 infection and they may appear on the face and neck. They start as fluid-filled blisters which eventually erupt into small painful ulcers.

Munchausen syndrome by proxy is a mental illness and a form of child abuse. The caretaker of a child, most often a mother or a father, either makes up fake symptoms or causes real symptoms to make it look like the child is sick. The person with MSP gains attention by seeking medical help for exaggerated or made-up symptoms of a child in his or her care. As health care providers strive to identify what’s causing the child’s symptoms, the deliberate actions of the mother or caretaker can often make the symptoms worse.The person with MSP does not seem to be motivated by a desire for any type of material gain. People with MSP may create or exaggerate a child’s symptoms in several ways. They may simply lie about symptoms, alter tests (such as contaminating a urine sample), falsify medical records, or they may actually induce symptoms through various means, such as poisoning, suffocating, starving, and causing infection.

The P value is defined as the probability under the assumption of no effect or no difference (null hypothesis), of obtaining a result equal to or more extreme than what was actually observed. The P stands for probability and measures how likely it is that any observed difference between groups is due to chance. Being a probability, P can take any value between 0 and 1. Values close to 0 indicate that the observed difference is unlikely to be due to chance, whereas a P value close to 1 suggests no difference between the groups other than due to chance. Thus, it is common in medical journals to see adjectives such as “highly significant” or “very significant” after quoting the P value depending on how close to zero the value is.A lower p-value is sometimes interpreted as meaning there is a stronger relationship between two variables. However, statistical significance means that it is unlikely that the null hypothesis is true (less than 5%).To understand the strength of the difference between two groups (control vs. experimental) a researcher needs to calculate the effect size.

Alpha-fetoprotein has significance primarily as a tumour marker, but maternal levels are frequently measured to detect some of the congenital abnormalities, in which the levels of alpha-fetoprotein are either increased or decreased. The conditions associated with raised alpha-fetoprotein levels are: spina bifida, anencephaly, myelomeningocele, oesophageal atresia, congenital nephrotic syndrome, and turner’s syndrome. Down’s syndrome or trisomy 21 is associated with low levels of maternal alpha-fetoprotein.

Hypopigmentation is a side-effect that is more likely to be due to eczema rather than topical steroids therapy.All the options provided are potential side-effects of topical steroid therapy. They are observed when the potency of the steroid used is too high, or the amount of drug used is too much.. FTU or fingertip unit application is what is recommended, with caution, in delicate areas such as the face. Hypopigmentation can occur in eczema and is a post-inflammatory response, in contrast to the total depigmentation which is seen in vitiligo. Chronic eczema causes lichenification of skin, where the epidermis is thickened, and not skin atrophy.

Rett syndrome is a disorder that affects the brain and occurs most commonly in girls. It presents with a period of normal development followed by severe problems with language and communication, learning, coordination, and other brain functions.

Bowel sounds in the chest and curved NG tube are suggestive of a diaphragm rupture, which has caused herniation of bowel into the thoracic cavity through the defect in the diaphragm.

Mumps presents with a prodromal phase of general malaise and fever. On examination there is usually painful parotid swelling which has high chances of becoming bilateral. In OM with effusion there are no signs of infection and the only symptom is usually hearing loss. Acute otitis externa produces otalgia as well as ear discharge and itching. Acute OM produces otalgia and specific findings upon otoscopy. In acute mastoiditis the patient experiences ear discharge, otalgia, headache, hearing loss and other general signs of inflammation.

The child has nephrotic syndrome which is most commonly caused by minimal change nephropathy in this age group. The condition presents with fusion of foot processes of the glomerular epithelial cells under the microscope.

The spinal muscular atrophies (SMAs) comprise a group of autosomal recessive disorders characterized by progressive weakness of the lower motor neurons. several types of spinal muscular atrophies have been described based on age when accompanying clinical features appear. The most common types are acute infantile (SMA type I, or Werdnig-Hoffman disease), chronic infantile (SMA type II), chronic juvenile (SMA type III or Kugelberg-Welander disease), and adult-onset (SMA type IV) forms.SMA type I – Acute infantile or Werdnig-Hoffman diseasePatients present before 6 months of age, with 95% of patients having signs and symptoms by 3 months. They have severe, progressive muscle weakness and flaccid or reduced muscle tone (hypotonia). Bulbar dysfunction includes poor suck ability, reduced swallowing, and respiratory failure. Patients have no involvement of the extraocular muscles, and facial weakness is often minimal or absent. They have no evidence of cerebral involvement, and infants appear alert.Reports of impaired fetal movements are observed in 30% of cases, and 60% of infants with SMA type I are floppy babies at birth. Prolonged cyanosis may be noted at delivery. In some instances, the disease can cause fulminant weakness in the first few days of life. Such severe weakness and early bulbar dysfunction are associated with short life expectancy, with a mean survival of 5.9 months. In 95% of cases, infants die from complications of the disease by 18 months.

Trisomy 21 (Down’s syndrome)is a genetic disorder characterized by the presence of an extra copy of chromosome 21 in all the body cells, mostly due to non-disjunction during gametogenesis. Robertsonian translocation occurs only in about 2-4% of the cases. A variety of clinical features are found in trisomy 21 due to multi-system involvement but the hallmark is hypotonia, which is present in almost all the cases of trisomy 21. Different types of leukemias are also found in association with down’s syndrome, but they are not the hallmark. Atlantoaxial subluxation is secondary to hypotonia, which induces joint and ligament laxity. Other clinical findings are hypothyroidism, Alzheimer’s disease, Hirschsprung’s disease, and pulmonary hypertension.

The right testicular vein is a tributary of the inferior vena cava, while the left testicular vein drains into the left renal vein.Note:The testicular venous drainage begins in the septa and these veins together with those of the tunica vasculosa converge on the posterior border of the testis as the pampiniform plexus. The pampiniform plexus, in turn, drains to the testicular vein.

Hereditary diseases follow specific inheritance patterns according to the type of gene involved. Mutations in the genes which are on the sex chromosome, chromosome X are called X-linked diseases. X-linked recessive conditions result when both the copies of X-chromosomes are defective, which happens in the case of females since males have only one X- chromosome. Thus, these conditions are more common among males, and examples include colour blindness, haemophilia, Lesch-Nyhan syndrome, and hunter’s syndrome, etc. Hunter’s syndrome is a type of lysosomal storage disease which is also known as mucopolysaccharidosis II. Vitamin D resistant rickets is a X-linked dominant disease. Neurofibromatosis type 1 and 2 are autosomal dominant conditions while Wilson’s disease is autosomal recessive.

Immunity against mumps develops over a long time. There is nothing to be done except to proceed with the usual vaccination schedule.

Alpha-fetoprotein (AFP) is a plasma protein produced by the embryonic yolk sac and the fetal liver. AFP levels in serum, amniotic fluid, and urine functions as a screening test for congenital disabilities, chromosomal abnormalities, as well as some other adult occurring tumours and pathologies.Pregnant maternal serum AFP levels are elevated in:- Neural tube defects (e.g., spina bifida, anencephaly)- Omphalocele- Gastroschisis- posterior urethral valves- nephrosis- GI obstruction- teratomas

The most prudent course of action in the given clinical scenario is an ovary-sparing cystectomy. The history is 3-months and is already chronic. Furthermore, the cyst is greater than 5cm in size and at risk of torsion. This will relieve the cause of pain, reduce the risk of torsion and save ovarian function.Other options:- This is a simple cyst and not a malignancy, so imaging and referral are not indicated.- Open oophorectomy was done in the past. However, this is very aggressive, and the modern approach is ovary-sparing.- As the cyst is 7cm and at risk of torsion, conservative management is not appropriate.

Germinal matrix/intraventricular haemorrhage (GM/IVH) is a complication of premature delivery that can result in life-long medical and developmental consequences. Although GM/IVH can occur in term infants, haemorrhage in this group of infants remains distinct from periventricular haemorrhage (PVH)/IVH of the preterm infant. Several acquired lesions of the central nervous system (CNS) specifically affect infants born prematurely and result in long-term disability, including GM/IVH, periventricular white matter injury (e.g., cystic periventricular leukomalacia [CPVL], periventricular haemorrhagic infarction [PVHI]), haemorrhage, and diffuse injury to the developing brain.The physical examination is usually negative in germinal matrix/intraventricular haemorrhage (GM/IVH). Occasionally, severe GM/IVH may present with nonspecific systemic findings suggestive of cardiovascular collapse.One subgroup of infants with GM/IVH presents with the following:- A sudden unexplained drop in haematocrit levels- Possible physical findings related to anaemia (e.g., pallor, poor perfusion) or haemorrhagic shockAnother subgroup of infants with GM/IVH presents with extreme signs, including the following:- A sudden and significant clinical deterioration associated with anaemia, metabolic acidosis, glucose instability, respiratory acidosis, apnoea, hypotonia, and stupor is present.Physical findings related to these signs include poor perfusion, pallor or an ashen colour, irregularities of respiratory pattern, signs of respiratory distress including retractions and tachypnoea, hypotonia, and altered mental status (e.g., decreased responsiveness, coma).Additional neurologic signs, such as fullness of the fontanelles, seizures, and posturing, may also be observed. Progression can be rapid and may result in shock and death.Extradural haemorrhage also known as an epidural hematoma, is a collection of blood that forms between the inner surface of the skull and outer layer of the dura, which is called the endosteal layer. They are usually associated with a history of head trauma and frequently associated skull fracture. The source of bleeding is usually arterial, most commonly from a torn middle meningeal artery.A subdural haemorrhage (or hematoma) is a type of bleeding that often occurs outside the brain as a result of a severe head injury. It takes place when blood vessels burst between the brain and the leather-like membrane that wraps around the brain (the dura mater). The pooling blood creates pressure on the surface of the brain, causing a variety of problems.

Cranial nerves I, II, and VIII are considered purely afferent nerves since they conduct sensory information from the olfactory region, the retina of the eye, and the inner ear structures, respectively.Cranial nerves III, IV, VI, XI, and XII are considered purely efferent due to their motor output to the orbit, the neck, and the tongue.Cranial nerves V, VII, IX, and X are considered mixed cranial nerves due to the presence of afferent and efferent fibres with both sensory and motor components.

The most worrying condition is testicular torsion and to exclude it exploratory surgery is required.

Severe cyanotic heart diseases such as pulmonary stenosis, transposition of the great vessels, hypoplastic left heart syndrome and truncus arteriosus all run the risk of a poor prognosis for a neonate. To continue the supply of oxygen the ductus arteriosus must be kept patent. This can be done with the immediate administration of Prostaglandin E1 as a temporary measure until a surgical intervention such as an atrial septostomy can be done. The closure of the duct can subsequently be initiated with the administration of indomethacin and oxygen.

A transverse lie is a common malpresentation. It occurs when the fetal longitudinal axis is perpendicular to the long axis of the uterus. The location of the spine determines if the foetus is back up (the curvature of the spine is in the upper part of the uterus) or back down (the curvature of the spine is in the lower part of the uterus).Good antenatal care, ECV, and elective caesarean section are the mainstay of the management.Spontaneous delivery of a term foetus is impossible with a persistent transverse lie and, in general, the onset of labour is an indication for the lower segment caesarean section (LSCS) in a case of a transverse lie.

The most possible diagnosis is SVT. The boy is suffering from hemodynamic instability, as indicated by his cold extremities. DC cardioversion is the treatment of choice.

Meconium aspiration syndrome (MAS) refers to breathing problems that a new-born baby may have when: – There are no other causes, and- The baby has passed meconium (stool) into the amniotic fluid during labour or deliveryThe most recent guidelines are as follows:- If the baby is vigorous (defined as having a normal respiratory effort and normal muscle tone), the baby may stay with the mother to receive the initial steps of new-born care. A bulb syringe can be used to gently clear secretions from the nose and mouth.- If the baby is not vigorous (defined as having a depressed respiratory effort or poor muscle tone), place the baby on a radiant warmer, clear the secretions with a bulb syringe, and proceed with the normal steps of new-born resuscitation (i.e., warming, repositioning the head, drying, and stimulating). If, after these initial steps are taken, the baby is still not breathing or the heart rate is below 100 beats per minute (bpm), administer positive pressure ventilation.Resuscitation should follow the same principles for infants with meconium-stained fluid as for those with clear fluidContinued care in the neonatal intensive care unit (NICU):Maintain an optimal thermal environment to minimize oxygen consumption.Minimal handling is essential because these infants are easily agitated. Agitation can increase pulmonary hypertension and right-to-left shunting, leading to additional hypoxia and acidosis. Sedation may be necessary to reduce agitation.An umbilical artery catheter should be inserted to monitor blood pH and blood gases without agitating the infant.Continue respiratory care includes oxygen therapy via hood or positive pressure, and it is crucial in maintaining adequate arterial oxygenation. Mechanical ventilation is required by approximately 30% of infants with MAS. Make concerted efforts to minimize the mean airway pressure and to use as short an inspiratory time as possible. Oxygen saturations should be maintained at 90-95%.Surfactant therapy is commonly used to replace displaced or inactivated surfactant and as a detergent to remove meconium. Although surfactant use does not appear to affect mortality rates, it may reduce the severity of disease, progression to extracorporeal membrane oxygenation (ECMO) utilization, and decrease the length of hospital stay.

Noonan syndrome is one of the most common genetic diseases associated with congenital heart defects, being second in frequency only to Down syndrome.Pulmonary stenosis and hypertrophic cardiomyopathy are generally the most common congenital heart defects found in Noonan syndrome.Pulmonary stenosis is often associated with a thickened and dysplastic valve. It is usually difficult to obtain a satisfactory result using the transcatheter balloon dilatation of such dysplastic valves, so surgical intervention is more likely to be needed.Hypertrophic cardiomyopathy involves predominantly the ventricular septum as asymmetric septal hypertrophy, but may also affect the ventricular free walls. Left ventricular outflow tract obstruction may occasionally be produced.

Laxatives have been shown to be beneficial in the treatment of chronic childhood constipation. Studies have shown that polyethylene glycol, mineral oil, magnesium hydroxide, and lactulose are effective and can be used for a prolonged periods without risk.

The patient history suggests a spontaneous tension pneumothorax which is a life-threatening situation in which excess air is introduced into the pleural space surrounding the lung. When there is a significant amount of air trapped in the pleural cavity, the increasing pressure from this abnormal air causes the lung to shrink and collapse, leading to respiratory distress. This pressure also pushes the mediastinum (including the heart and great vessels) away from its central position, e.g. deviated trachea, and diminishing the cardiac output. Tension pneumothoraxes cause chest pain, extreme shortness of breath, respiratory failure, hypoxia, tachycardia, and hypotension. These are definitively managed by insertion of a chest tube. However, in the emergency setting temporizing measures are needed while chest tube materials are being gathered. In these situations, urgent needle thoracostomy (also called needle decompression) is performed.

Intussusception is the invagination of one segment of the intestine within a more distal segment. It presents with vomiting, abdominal pain, and a palpable abdominal mass.Intussusception usually affects infants between 6-18 months old. Boys are affected twice as often as girls

In this case, the affected individuals are all heterozygotes. Therefore, the mutation is autosomal dominant. Also, the mother does not carry the mutation, further confirming the autosomal dominant nature of the disease, which is most probably achondroplasia.

The most probable diagnosis for this patient would be torsion of a hydatid cyst of the testis.Note:The differential diagnoses in acute testicular pain/swelling are listed in the possible answers. Testicular torsion typically affects adolescent males and presents with acute painful swelling and a horizontally lying testicle. Other options:- Epididymo-orchitis is diagnosed during surgery when a thickened erythematous epididymis is noted. Ectopic ureteric insertion into the vas must be excluded by ultrasound scan on an out-patient basis. The hydatid cyst or cyst of Morgagni represents the remnants of the Mullerian structure. In the pre-pubertal child, a surge in hormones can stimulate growth and chance of torsion. It is diagnosed by surgical exploration or by a blue dot sign. Idiopathic scrotal oedema tends to be within the scrotum itself, and the testis can be examined in the groin to exclude pain in the testis. All acute scrotal pain must be explored to exclude testicular torsion unless a surgical registrar is convinced of a torted hydatid cyst.- An 8-year-old is more likely to present with a torted hydatid cyst. The blue dot sign is diagnostic and can negate the need for surgical exploration. The age of the child also makes epididymo-orchitis less likely.- Idiopathic scrotal oedema presents with an erythematous and thickened scrotum. This can cross the midline and involve the whole scrotum.- Finally, an inguinal hernia would present with a mass in the groin extending to the scrotum that you cannot get above.

Patent ductus arteriosus is a heart defect that occurs in around 50% of the preterm or low birth weight infants. It is characterized by the failure of the fetal ductus arteriosus to close after birth. There are certain risk factors which predispose an infant to a patent ductus arteriosus. The most important risk factor is trisomy 21 or Down’s syndrome, which is associated with multiple cardiac defects. Other factors are congenital rubella syndrome, birth at high altitudes, and female gender.

The sympathetic chain lies posterior to the parietal pleura. During a thorascopic sympathectomy, this structure will have to be divided. The intercostal vessels lie posteriorly. They may be damaged with troublesome bleeding but otherwise are best left alone as the deliberate division will not improve surgical access.The sympathetic nervous system:The cell bodies of the preganglionic efferent neurones lie in the lateral horn of the grey matter of the spinal cord in the thoracolumbar regions.The preganglionic efferents leave the spinal cord at levels T1-L2. These pass to the sympathetic chain.Lateral branches of the sympathetic chain connect it to every spinal nerve. These postganglionic nerves will pass to structures that receive sympathetic innervation at the periphery.Sympathetic chains:These lie on the vertebral column and run from the base of the skull to the coccyx.Clinical correlation:Interruption of the head and neck supply of the sympathetic nerves will result in an ipsilateral Horner’s syndrome.For the treatment of hyperhidrosis, the sympathetic denervation can be achieved by removing the second and third thoracic ganglia with their rami. Removal of T1 will cause a Horner’s syndrome and is therefore not performed.In patients with vascular disease of the lower limbs, lumbar sympathectomy may be performed, either radiologically or (more rarely now) surgically. The ganglia of L2 and below are disrupted. Care should be taken to preserve the L1 ganglion. If it is removed in male patients, ejaculation may be compromised.

Based on the clinical scenario, the patient has features suggestive of acute otitis externa, which can be managed with topic antibiotics.Otitis externa:It can be classified as acute (< 3 weeks) or chronic (> 3 months). Frequent exposure to water, e.g. swimming, is a risk factor for the condition. Itching, pain, hearing loss and discharge are common complaints. Examination demonstrates oedema of the external auditory canal with discharge. Pain may be elicited on the movement of the tragus or pinna. First-line treatment is with topical drops/sprays for one week. Acidic preparations such as 2% acetic acid, antibiotic or combined antibiotic and corticosteroid preparations may be used (1% hydrocortisone and 0.3% gentamicin). Acetic acid can be used as the first-line treatment for mild cases without discharge or hearing impairment. On selecting an appropriate topical preparation remember that topical aminoglycosides are contraindicated if the tympanic membrane is perforated and that chloramphenicol ear drops cause contact dermatitis in approximately 10% of people. Clinoquinol, a combination of antibacterial and antifungal, may be preferred over aminoglycoside containing preparations due to the theoretical lower risk of ototoxicity and dermatitis. However, there is no clear evidence to support the use of one topical preparation over another.Other options:- Admit for IV antibiotics: First line management is with analgesia and topical antibiotic or combined antibiotic and corticosteroid preparations. Thus, IV antibiotics is not an appropriate action.- Oral antibiotics: Oral antibiotics like flucloxacillin or erythromycin are considered only for severe infections such as the spread of cellulitis beyond the ear canal. – Reassurance is not sufficient to treat these patients. They require topic antibiotic therapy.- Referral to ENT: Should be considered only in case of treatment failure. ENT referral can also be considered if there is cellulitis extending past the margin of the external ear canal, extreme pain or extensive swelling and discharge likely to require suction or the insertion of an ear wick. Urgent ENT referral is reserved for suspected cases of malignant otitis externa (with the extension of the condition into the adjacent bone and spreading osteomyelitis).

Osteoid osteoma is a bone forming tumour which affects individuals in the second decade of life. The patient presents with a history of pain in the lower limbs which is mostly at night and responds to NSAIDS. If the pain doesn’t respond to NSAIDS, then other differentials should be considered.

This is the clinical picture of dermatitis herpetiformis associated with gluten-sensitive enteropathy. To establish the diagnosis, you should measure the coeliac antibodies. Darrier’s sign (where the skin urticates when it is stroked) is positive in urticaria pigmentosa.

After birth, the infant takes its first breath and is exposed to a myriad of stimuli. The pulmonary vessels dilate, and pulmonary vascular resistance (PVR) decreases remarkably while the systemic vascular pressure rises above the PVR. This allows blood from the right ventricle to enter the lungs for oxygenation. In most cases, this increased oxygenation, along with other factors, causes the ductal wall to constrict and the ductus arteriosus to close functionally. As left-sided pressures rise higher than right-sided pressures, the foramen ovale functionally closes. With the clamping of the umbilical cord and the cessation of blood flow, pressures in the portal sinus decrease. This causes the muscle in the sinus wall near the ductus venosus to contract. The lumen of the duct becomes filled with connective tissue, and, in two months, the ductus venosus becomes a fibrous strand embedded in the wall of the liver, thus establishing adult circulation.

Case control studies are observational studies which retrospectively determine whether a patient might have been exposed to a risk factor for a certain disease, as compared to a control group from the general population. They can be used for a range of outcomes as well as rare diseases. One of the biggest problems with this type of study is recall bias. Research subjects may selectively remember factors that are more predictive of the disease outcome when compared to the control group. All studies should have prior power calculations before the study commences.

Risk factors for neonatal death and stillbirth (weak predictive value):- African American race- Advanced maternal age- History of fetal demise- Maternal infertility- History of small for gestational age infant- Small for gestational age infant- Obesity- Paternal age- Poverty and poor quality of careSo in this case the risk factor is the parental unemployment

Kaposi varicelliform eruption (KVE) is the name given to a distinct cutaneous eruption caused by herpes simplex virus (HSV) type 1, HSV-2, coxsackievirus A16, or vaccinia virus that infects a pre-existing dermatosis. Most commonly, it is caused by a disseminated HSV infection in patients with atopic dermatitis (AD) and, for this reason, is often referred to as eczema herpeticum (EH).Kaposi varicelliform eruption (KVE) is now known to occur in children of any age and in adults, however, most patients (56%) are aged 15-24 years.

Hypospadias is an abnormality of anterior urethral and penile development. The urethral opening is located on the ventral aspect of the penis proximal to the tip of the glans penis, which, in this condition, is open. The urethral opening may be located as proximal as in the scrotum or perineum. The penis may also have associated ventral shortening and curvature, called chordee, with more proximal urethral defects.

Acoustic neuroma/vestibular schwannoma is a benign slow-growing tumour. The clinical picture of the child suggests neurofibromatosis type 1 (NF1), with cafe-au-lait spots and axillary and inguinal freckling.

Based on the clinical scenario, the boy is going through normal pubertal changes.In the 3 years before puberty, low pulsatile LH levels become detectable during sleep. LH and FSH are produced in the anterior pituitary and released due to pulsatile gonadotrophin-releasing hormone (GnRH) secreted by the hypothalamus. There is an increase in the amplitude and frequency of LH secretion as puberty approaches, which causes enlargement of the gonads. In boys, the testicles produce testosterone, and in girls, the ovaries produce oestradiol and ovarian androgens, which, with the adrenal androgens, produce secondary sexual characteristics.Note:The average age at onset of puberty is 11 years in girls. The first sign is breast bud development, followed by the appearance of pubic hair 6–12 months later. Menarche usually occurs 2–2.5 years after breast bud development. Peak height velocity in girls occurs at breast stage 2–3 and virtually always precedes menarche. The onset of puberty in boys is at 11.5 years. The first sign is testicular enlargement (>3 ml) and thinning of the scrotum. This is followed by the pigmentation of the scrotum and growth of the penis, and pubic hair follows. Peak height velocity (growth spurt) is two years later in boys than in girls and occurs at testicular stage 4–5 (i.e. testicular volume 10–12 ml), which is around 13–14 years of age. Breast enlargement occurs in 40–60% of boys (rarely, significant enough to cause social embarrassment in 10%) and is a result of oestradiol produced by the metabolism of testosterone. It usually resolves within three years. During puberty, elongation of the eye often occurs, causing short-sightedness.

Also known as the hyoid arch, it forms the side and front of the neck. From its cartilage develops the styloid process, stylohyoid ligament and lesser cornu of the hyoid bone. The muscular derivatives include the muscles of facial expression, stapedius, stylohyoid and the posterior belly of the digastric. All these are innervated by cranial nerve VII but migrate into the area of the mandibular arch.