This patient has Wilson’s disease. They Kayser-Fleischer ring (ring that encircles the iris) is diagnostic of this. Low serum copper is seen in Wilson’s disease. With the Kayser-Fleischer ring, this makes all of the other answer choices incorrect.

Based on the studies, genetic factors are responsible for approximately 60 % DVT cases. Factor V (FV) Leiden which is the most common cause of inherited thrombophilia, predisposes patients to DVT because of resistance to protein C.The heritable causes of deep vein thrombosis, from most to least common are:Factor V LeidenProthrombin G20210A variantProtein C deficiencyProtein S deficiencyAntithrombin deficiencyVon Willebrand disease and thalassaemia are not causes of DVT.

European guidelines suggest that triple therapy for 1 week is acceptable and sufficient for H. pylori eradication. Although triple therapy for 2 weeks might have higher therapeutic rates, it also carries a higher risk of side effects. Triple therapy includes amoxicillin and clarithromycin and a proton-pump inhibitor, usually omeprazole.

Tension headache presents with pain that is pressing or tightening in quality, mild or moderate, and located bilaterally. It usually does not get worse with activities and may last from minutes to weeks.

An odds ratio (OR) is a measure of 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

Breastfeeding may be significantly impaired (up to 25%) by breast augmentation. Equally, breast engorgement, which occurs due to vascular congestion, reduces nipple protrusion and subsequent ability to breastfeed successfully. In the latter, regular feeding or expressing is required.

Human breast milk composition is best suited to meet all the growth and development requirements of a baby. It contains numerous biochemicals ranging from macronutrients, micronutrients, minerals, immunoglobulins, inflammatory markers, and growth factors. The major bioactive factors found in human breast milk are: immunoglobulins (IgA, IgG, and IgM), cells (macrophages and stem cells), growth factors (epidermal growth factor, tumour necrosis factor-alpha, transforming growth factor-beta, and vascular endothelial growth factor), cytokines, chemokines, hormones, metabolic hormones, glycans, and mucins.

Bilious (green) gastric aspirate or emesis indicates that the intestines are obstructed below the ampulla of Vater.Gastrointestinal (GI) endoscopy is actually considered an essential diagnostic and therapeutic technique. Upper GI endoscopy in neonatal age allows for exploration of the oesophagus, stomach and duodenum| instead lower GI endoscopy easily reaches the sigmoid-colon junction.

Intensive physical training and participation in competitive sports during childhood and early adolescence may affect athletes’ pubertal development.Female athletes who do not begin secondary sexual development by the age of 14 or menstruation by the age of 16 warrant a comprehensive evaluation and treatment.Since she is still 14, adequate diet and observation are enough.

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

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

Answer: Bochdalek herniaA Bochdalek hernia is one of two forms of a congenital diaphragmatic hernia, the other form being Morgagni hernia. A Bochdalek hernia is a congenital abnormality in which an opening exists in the infant’s diaphragm, allowing normally intra-abdominal organs (particularly the stomach and intestines) to protrude into the thoracic cavity. In the majority of patients, the affected lung will be deformed, and the resulting lung compression can be life-threatening. Bochdalek hernias occur more commonly on the posterior left side (85%, versus right side 15%).In normal Bochdalek hernia cases, the symptoms are often observable simultaneously with the baby’s birth. A few of the symptoms of a Bochdalek Hernia include difficulty breathing, fast respiration and increased heart rate. Also, if the baby appears to have cyanosis (blue-tinted skin) this can also be a sign. Another way to differentiate a healthy baby from a baby with Bochdalek Hernia, is to look at the chest immediately after birth. If the baby has a Bochdalek Hernia it may appear that one side of the chest cavity is larger than the other and or the abdomen seems to be scaphoid (caved in).Situs inversus (also called situs transversus or oppositus) is a congenital condition in which the major visceral organs are reversed or mirrored from their normal positions. The normal arrangement of internal organs is known as situs solitus while situs inversus is generally the mirror image of situs solitus. Although cardiac problems are more common than in the general population, most people with situs inversus have no medical symptoms or complications resulting from the condition, and until the advent of modern medicine it was usually undiagnosed. In the absence of congenital heart defects, individuals with situs inversus are homeostatically normal, and can live standard healthy lives, without any complications related to their medical condition. There is a 5–10% prevalence of congenital heart disease in individuals with situs inversus totalis, most commonly transposition of the great vessels. The incidence of congenital heart disease is 95% in situs inversus with levocardia.Cystic fibrosis is a progressive, genetic disease that causes persistent lung infections and limits the ability to breathe over time. In people with CF, mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause the CFTR protein to become dysfunctional. When the protein is not working correctly, it’s unable to help move chloride — a component of salt — to the cell surface. Without the chloride to attract water to the cell surface, the mucus in various organs becomes thick and sticky. In the lungs, the mucus clogs the airways and traps germs, like bacteria, leading to infections, inflammation, respiratory failure, and other complications. Necrotizing enterocolitis (NEC) is a medical condition where a portion of the bowel dies. It typically occurs in new-borns that are either premature or otherwise unwell. Symptoms may include poor feeding, bloating, decreased activity, blood in the stool, or vomiting of bile.The exact cause is unclear. Risk factors include congenital heart disease, birth asphyxia, exchange transfusion, and premature rupture of membranes. The underlying mechanism is believed to involve a combination of poor blood flow and infection of the intestines. Diagnosis is based on symptoms and confirmed with medical imaging.Morgagni hernias are one of the congenital diaphragmatic hernias (CDH), and is characterized by herniation through the foramen of Morgagni. When compared to Bochdalek hernias, Morgagni hernias are:-anterior-more often right-sided (,90%)-small-rare (,2% of CDH)-at low risk of prolapseOnly ,30% of patients are symptomatic. New-borns may present with respiratory distress at birth similar to a Bochdalek hernia. Additionally, recurrent chest infections and gastrointestinal symptoms have been reported in those with previously undiagnosed Morgagni hernia.The image of the transverse colon is herniated into the thoracic cavity, through a mid line defect and this indicates that it is a Morgagni hernia since the foramen of a Morgagni hernia occurs in the anterior midline through the sternocostal hiatus of the diaphragm, with 90% of cases occurring on the right side.Clinical manifestations of congenital diaphragmatic hernia (CDH) include the following:Early diagnosis – Right-side heart| decreased breath sounds on the affected side| scaphoid abdomen| bowel sounds in the thorax, respiratory distress, and/or cyanosis on auscultation| CDH can often be diagnosed in utero with ultrasonography (US), magnetic resonance imaging (MRI), or bothLate diagnosis – Chest mass on chest radiography, gastric volvulus, splenic volvulus, or large-bowel obstructionCongenital hernias (neonatal onset) – Respiratory distress and/or cyanosis occurs within the first 24 hours of life| CDH may not be diagnosed for several years if the defect is small enough that it does not cause significant pulmonary dysfunctionCongenital hernias (childhood or adult onset) – Obstructive symptoms from protrusion of the colon, chest pain, tightness or fullness the in chest, sepsis following strangulation or perforation, and many respiratory symptoms occur.

Torsade de pointes is an uncommon and distinctive form of polymorphic ventricular tachycardia (VT) characterized by a gradual change in the amplitude and twisting of the QRS complexes around the isoelectric line.Conditions associated with torsade include the following:Electrolyte abnormalities – Hypokalaemia, hypomagnesemia, hypocalcaemiaEndocrine disorders – Hypothyroidism, hyperparathyroidism, pheochromocytoma, hyperaldosteronism, hypoglycaemiaCardiac conditions – Myocardial ischemia, myocardial infarction, myocarditis, bradyarrhythmia, complete atrioventricular (AV) block, takotsubo cardiomyopathyIntracranial disorders – Subarachnoid haemorrhage, thalamic hematoma, cerebrovascular accident, encephalitis, head injuryNutritional disorders – Anorexia nervosa, starvation, liquid protein diets, gastroplasty and ileojejunal bypass, celiac diseaseRisk factors for torsade include the following:Congenital long QT syndromeFemale genderAcquired long QT syndrome (causes of which include medications and electrolyte disorders such as hypokalaemia and hypomagnesemia)BradycardiaBaseline electrocardiographic abnormalitiesRenal or liver failure

Bitemporal hemianopia is a characteristic finding seen in patients with optic chiasm lesion.The pituitary gland is situated within the pituitary fossa. Just above the pituitary fossa is the optic chiasm and so any expanding masses from the pituitary gland commonly press on it, causing bitemporal hemianopia.Other options:- Compression of the optic nerve would not cause more severe, generalised visual loss. Also, the optic nerve is not anatomically related to the pituitary gland and so is unlikely to be directly compressed in the presence of a pituitary tumour.- The optic tract is again not closely anatomically related with the pituitary gland and so is unlikely to be directly compressed in the presence of a pituitary tumour. Also, damage to the optic tract on one side would cause homonymous hemianopia.- The lateral geniculate nucleus is a centre of cells in the thalamus and is unlikely to be compressed by a pituitary tumour. Its function is to convey sensory information from the optic tract to more central parts of the visual pathway.- The Edinger-Westphal nucleus is located at the level of the superior colliculus in the midbrain and so may not be compressed by an enlarging pituitary tumour.Other visual defects:- Left homonymous hemianopia: It is the visual field defect to the left, due to the lesion of the right optic tract.- Homonymous quadrantanopias are seen in parietal (inferior homonymous quadrantopia) and temporal lobe lesions (superior homonymous quadrantopia). Mnemonic: PITS (Parietal-Inferior, Temporal-Superior)A congruous defect means complete or symmetrical visual field loss, and conversely, an incongruous defect is incomplete or asymmetric.Incongruous defects suggest an optic tract lesion, while congruous defects suggest optic radiation or occipital cortex lesion.

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.

The European Society of Human Reproduction and Embryology/American Society for Reproductive Medicine Rotterdam consensus (ESHRE/ASRM) developed and enlarged the diagnosis of PCOS, requiring two of three features: anovulation or oligo-ovulation, clinical and/or biochemical hyperandrogenism, and polycystic ovarian morphology (PCOM) seen on ultrasound. Finally the Androgen Excess Society defined PCOS as hyperandrogenism with ovarian dysfunction or polycystic ovaries

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.

Various types of birthmarks are commonly seen in children of different age groups. Birthmarks can be broadly classified as pigmented and vascular birthmarks. Port-wine stain (nevus flammeus) is an example of a vascular birthmark, and is characterized by a reddish-purple discoloration of the skin due to abnormal underlying skin vasculature. Port-wine stain has also been associated with vascular diseases like Sturge-weber syndrome, which is a congenital neurocutaneous disorder. In Sturge-weber syndrome, the port-wine stain affects the skin around the ophthalmic branch of trigeminal nerve.

Mongolian spots are, hyper-pigmented, non-blanching patches present on the back and gluteal region at birth. They are commonly found in African and Asian ethnic groups, and can also present in infants of Mediterranean and middle eastern descent. Though the spots usually disappear by puberty, some may persist into adulthood.

The boy is most probably a type 1 diabetic patient. Such a condition can affect the behaviour and psychological state of a young child reflected in their behaviour. The parents should seek the help of a clinical psychologist.

Unconjugated bilirubin is conjugated to glucuronic acid in the hepatocyte. Conjugated bilirubin passes into the enterohepatic circulation and the bilirubin which evades this system is metabolised by bacteria, primarily in the large intestine, to urobilinogen, then stercobilinogen and eventually oxidised to stercobilin. Stercobilin gives faeces its brown colour.

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.

There are two lateral rotators of the arm, the infraspinatus and the teres minor muscles. The infraspinatus muscle receives nerve supply from C5 and C6 via the suprascapular nerve, whilst the teres minor is supplied by C5 via the axillary nerve.

Answer: Oculogyric crisisOculogyric crisis is an acute dystonic reaction of the ocular muscles characterized by bilateral dystonic elevation of visual gaze lasting from seconds to hours. This reaction is most commonly explained as an adverse reaction to drugs such as antiemetics, antipsychotics, antidepressants, antiepileptics, and antimalarials. Metoclopramide is a benzamide selective dopamine D2 receptor antagonist that is used as an antiemetic, with side effects that are seen frequently in children.1 The most common and most important side effects of metoclopramide are acute extrapyramidal symptoms, which require immediate treatment. Acute dystonic reactions occur as contractions of the muscles, opisthotonos, torticollis, dysarthria, trismus, and oculogyric crisis.

Successful administration of median nerve block can be confirmed by the inability to abduct the thumb. The median nerve supplies all the muscles in the anterior compartment of the forearm, apart from the flexor carpi ulnaris and the flexor digitorum profundus to the outer two fingers: so these two fingers can still be flexed. There is a sensory loss to the thumb, index, middle and half of the ring fingers. Absence of thumb abduction due to paralysis of abductor pollicis brevis is a good test for median nerve paralysis.Other options:- The radial nerve supplies the extensors – hence wrist drop does not occur in this scenario. – The ulnar nerve supplies the skin of the ulnar side of the hand. Hence anaesthesia will not affect this area. – The ulnar nerve also supplies the interossei muscles of the hand, which affect abduction and adduction of the fingers.

Tetralogy of Fallot usually is diagnosed after a baby is born, often after the infant has an episode of turning blue during crying or feeding (a tet spell). A loud heart murmur is usually present.An atrial septal defect is present at birth, but many babies do not have any signs or symptoms.Coarctation of the aorta is usually diagnosed after the baby is born. How early in life the defect is diagnosed usually depends on how mild or severe the symptoms are. New-born screening using pulse oximetry during the first few days of life may or may not detect coarctation of the aorta.In babies with a more serious condition, early signs usually include:pale skinirritabilityheavy sweatingdifficulty breathingBabies born with pulmonary atresia will show symptoms at birth or very soon afterwards. They may be cyanotic. However, it is not uncommon for a heart murmur to be absent right at birth.

Marfan syndrome is a disorder that affects the connective tissue found throughout the body, Marfan syndrome can affect many systems, often causing abnormalities in the heart, blood vessels, eyes, bones, and joints. The two primary features of Marfan syndrome are vision problems caused by a dislocated lens (ectopia lentis) in one or both eyes and aortic root disease, leading to aneurysmal dilatation, aortic regurgitation and dissection is the main cause of morbidity and mortality in Marfan syndrome.

People who are at risk for severe illness and complications from measles, such as infants younger than 12 months of age, pregnant women without evidence of measles immunity, and people with severely compromised immune systems, should receive immunoglobulin. Intramuscular immunoglobulin should be given to all infants younger than 12 months of age who have been exposed to measles. For infants aged 6 through 11 months, MMR vaccine can be given in place of IG, if administered within 72 hours of exposure.

The study described in the question is a ‘cohort’ study.Other options:A prospective observational study – When groups are classified according to one or more factors at a given time and followed forward to determine outcomes (usually some health status)- Although there is in one sense a control group (those who do not develop the health problem), this is not generally called a ‘controlled’ trial. – An ecological study would look at outcomes in different groups (countries or regions usually) who follow different practices.

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.

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

The most likely cause of microcephaly in an asymptomatic 3-year-old child is congenital rubella syndrome.Microcephaly is defined as head circumference > two standard deviations below the mean.The causes of microcephaly include:- Genetic disorders: Down syndrome, Edward syndrome, Patau syndrome, Williams syndrome, Angelman syndrome, and Rett syndrome.- Infective: Meningitis, toxoplasmosis, CMV, rubella, varicella, HIVand Zika.- Acquired causes: Severe brain malformations, neurodegenerative diseases, hypoxic-ischemic injury, infarction, antenatal exposure to drugs, alcohol, and other toxins. Severe malnutrition and uncontrolled phenylketonuria in the mother are other causes of microcephaly in children.- Craniosynostosis- Neurometabolic disorders- Early non-accidental trauma- Fanconi anaemia- Other causes include: Familial and nonfamilial nonsyndromic microcephalyMost children with microcephaly have one or several associated symptoms:- Developmental delay- Seizures- Visual abnormalities- Short stature

In boys, the first manifestation of puberty is testicular enlargement| the normal age for initial signs of puberty is 9 to 14 years in males. Pubic hair in boys generally appears 18 to 24 months after the onset of testicular growth and is often conceived as the initial marker of sexual maturation by male adolescents.

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

Bone age is used to determine the maturation of a child’s bones’ and is used to detect pathological growth. This is done using the X-ray of the wrist. Several conditions can either advance or delay the bone age such that they may not match the child’s chronological age. Bone age is advanced in conditions where there are prolonged or elevated sex hormone levels such as precocious puberty, or in genetic overgrowth conditions such as Beckwith-Wiedemann syndrome. Bone age is delayed in constitutional growth delay, chronic ill health, endocrine disorders such as growth hormone deficiencies or hypothyroidism, genetic disorders such as Trisomy 21, Trisomy 18, and Turner’s syndrome. Obesity is unlikely to cause growth delay.

As her paracetamol level is under the required treatment threshold, she requires no medical treatment. However, she has taken a simultaneous drug overdose and excessive alcohol consumption. These two factors together require psychiatric evaluation and so she should be referred to the psychiatry ward.

Based on the clinical scenario provided, the most probable nerve injured in this patient would be the trochlear nerve. The trochlear nerve has a relatively long intracranial course, and this makes it vulnerable to injury in head trauma. Head trauma is the most frequent cause of acute fourth nerve palsy. A 4th nerve palsy is the most common cause of vertical diplopia. The diplopia is at its worst when the eye looks medially which it usually does as part of the accommodation reflex when walking downstairs.

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.

Cystinosis is a condition characterized by accumulation of the amino acid cystine (a building block of proteins) within cells. This condition is inherited in an autosomal recessive pattern.Excess cystine damages cells and often forms crystals that can build up and cause problems in many organs and tissues. The kidneys and eyes are especially vulnerable to damage| the muscles, thyroid, pancreas, and testes may also be affected.There are three distinct types of cystinosis. In order of decreasing severity, they are nephropathic cystinosis, intermediate cystinosis, and non-nephropathic or ocular cystinosis.Nephropathic cystinosis begins in infancy, causing poor growth and a particular type of kidney damage (renal Fanconi syndrome) in which certain molecules that should be reabsorbed into the bloodstream are instead eliminated in the urine. The kidney problems lead to the loss of important minerals, salts, fluids, and many other nutrients. The loss of nutrients impairs growth and may result in soft, bowed bones (hypophosphatemic rickets), especially in the legs. The nutrient imbalances in the body lead to increased urination, thirst, dehydration, and abnormally acidic blood (acidosis). By about the age of 2, cystine crystals may be present in the clear covering of the eye (cornea). The build-up of these crystals in the eye causes pain and an increased sensitivity to light (photophobia). Untreated children will experience complete kidney failure by about the age of 10. Other signs and symptoms that may occur in untreated people, especially after adolescence, include muscle deterioration, blindness, inability to swallow, diabetes, thyroid and nervous system problems, and an inability to father children (infertility) in affected men.The signs and symptoms of intermediate cystinosis are the same as nephropathic cystinosis, but they occur at a later age.

The clinical picture suggests that the baby has Beckwith-Wiedemann Syndrome, which predisposes the individual to cancer. The most common childhood tumour that a person with Beckwith-Wiedemann Syndrome may develop is Wilms’ tumour. Typical features include: macrosomia, asymmetric limb growth, macroglossia, neonatal hypoglycaemia, umbilical hernias or other abdominal wall deformities.

The gastrocolic reflex is a physiological reflex that involves increase in colonic motility in response to stretch in the stomach and by-products of digestion in the small intestine. It is shown to be uneven in its distribution throughout the colon, with the sigmoid colon affected more than the right side of the colon in terms of a phasic response. Various neuropeptides have been proposed as mediators of this reflex, such as serotonin, neurotensin, cholecystokinin and gastrin.

Patients with HIV have a deficiency of CD4 lymphocytes which are also known as helper T cells (Th). They are involved with antigen-specific responses as well as delayed-type hypersensitivity. The risk of developing P. jiroveci pneumonia is greatest with a CD4 count of 200 x 109/l or below.

The most probable diagnosis in this patient would be pulmonary stenosis. Pulmonary Stenosis:Pulmonary valve murmurs are heard in the upper left sternal edge, associated with a thrill but no desaturation in the absence of an additional shunt. The ECG changes suggest right ventricular hypertrophy. Pulmonary stenosis is often well tolerated in childhood unless severe. These should be monitored with serial echocardiography, and balloon pulmonary valvoplasty should be considered once the pressure gradient reaches 64 mmHg.Other options:- Atrial septal defect: While atrial septal defects are associated with right ventricular outflow tract murmurs, they would not cause a thrill.- Patent ductus arteriosus: PDA murmurs can be audible in the left upper sternal edge, but would normally be audible in the left infraclavicular area and be continuous rather than ejection systolic. This left to right shunt would not cause desaturation but does cause left-sided volume loading and hence left-sided ECG changes.- Tetralogy of Fallot: Ventricular septal defect, overriding aorta, subpulmonary stenosis, and right ventricular hypertrophy. This would often cause a ULSE murmur with a thrill and RVH on ECG. However, this degree of obstruction would cause shunting from right to left, and this child would be desaturated.- Ventricular septal defect: Isolated ventricular septal defects cause pansystolic murmurs at the left lower sternal edge. They would have left-sided ECG changes and normal saturations (in the absence of pulmonary hypertension).

History of fever is suggestive of an infective focus. A straight nasal bones excludes a nasal bone fracture. A nasal septal abscess is defined as a collection of pus between the cartilage or bony septum and it is an uncommon disease which should be suspected in a patient with acute onset of nasal obstruction and recent history of nasal trauma.

The Green Book guidelines report in an active infection (HBeAg+ and HBsAg+) to give the vaccine as well as immunoglobulin. If antibodies are present it is not active infection (anti-Hbe) and then in that case only the vaccine, and no immunoglobulin, would be given. The presence of HBeAg means a person is infectious and can transmit to other people.

A bone age study helps doctors estimate the maturity of a child’s skeletal system. It’s usually done by taking a single X-ray of the left wrist, hand, and fingers. It is a safe and painless procedure that uses a small amount of radiation. The bones on the X-ray image are compared with X-rays images in a standard atlas of bone development, which is based on data from large numbers of other kids of the same gender and age. The bone age is measured in years.

Bleeding oesophageal varices secondary to portal hypertension can cause a massive gastrointestinal haemorrhage resulting in shock. Perforated ulcer is less likely in this age group. Mallory Weiss tear would not likely result in a massive haemorrhage. Aorto-intestinal fistula is more common in older patients with abdominal aneurysms. Boerhaave’s syndrome is a result of a ruptured oesophagus following excessive vomiting.

Breast milk jaundice is associated with breast-feeding. It typically occurs one week after birth and can sometimes last up to 12 weeks, but it rarely causes complications in healthy, breast-fed infants. The exact cause of breast milk jaundice isn’t known. However, it may be linked to a substance in the breast milk that prevents certain proteins in the infant’s liver from breaking down bilirubin. The condition may also run in families. Breast milk jaundice is rare, affecting less than 3 percent of infants. When it does occur, it usually doesn’t cause any problems and eventually goes away on its own. It is safe to continue breast-feeding.

The presenting features and the surgical site provided in the clinical scenario are highly suggestive of ipsilateral hypoglossal nerve injury.Note:Three cranial nerves may be injured during submandibular gland excision.- Marginal mandibular branch of the facial nerve- Lingual nerve- Hypoglossal nerveHypoglossal nerve damage may result in the paralysis of the ipsilateral aspect of the tongue. The nerve itself lies deep to the capsule surrounding the gland and should not be injured during an intracapsular dissection. The lingual nerve is probably at higher risk of injury. However, the effects of lingual nerve injury are predominantly sensory rather than motor.Thus, the most appropriate answer is the hypoglossal nerve.

As this boy didn’t have a previous history, a structural abnormality is unlikely. Parents should be asked to take the child to the bathroom to void before bedtime. Either alarm therapy or pharmacologic therapy should be considered if the above method doesn’t work after 3 months. From the above 2 therapies, neither one is superior than the other, so alarm therapy should be tried first.

Fertilization occurs when the sperm reaches an egg released during ovulation. At the time of fertilization, the interaction of sperm with the zona pellucida stimulates the release of calcium. This process initiates a corona reaction that prevents polyspermy.

From the midgut derives most of the small intestine as well as some parts of the large intestine, including the appendix. The appendix is at the base of caecum, up to 10cm long and mainly comprised of lymphoid tissue (Hence mesenteric adenitis may mimic appendicitis).

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.

An enlarged lymph node does not necessarily need treatment especially if it is caused by a virus. If it is bacterial, antibiotics should be prescribed. Amoxicillin is first line treatment in non-penicillin allergic patients and side effects include allergic reactions like skin rash and itching

Arterial blood gas is useful for the evaluation of oxygen and carbon dioxide gas exchange, respiratory function including hypoxia, and acid/base balance. This will quickly indicate if assisted ventilation is required for this patient.

Duchenne muscular dystrophy has an X-linked recessive pattern of inheritance. Since the first son is affected by the disease, it means that the mother is a carrier. The male children will inherit the Y chromosome from their father and the X chromosome from their mother, having 50% chances of inheriting the X chromosome with the affected gene.

This patient has pulmonary renal syndrome which is most commonly due to an ANCA positive vasculitis. The history of recurrent epistaxis makes Wegener’s granulomatosis the most probable diagnosis. Wegener’s granulomatosis, microscopic polyangiitis, and idiopathic pauci-immune necrotizing crescentic glomerulonephritis (NCGN) are strongly associated with antineutrophil cytoplasmic autoantibodies (ANCAs) directed against either proteinase 3 (anti-PR3) or myeloperoxidase (anti-MPO).

Patients with breast cancer develop clinical symptoms rather late at advanced tumour stages. Typical signs may include:Changes in breast size and/or shape| asymmetric breastsPalpable mass: typically a single, nontender, firm mass with poorly defined margins, most commonly in the upper outer quadrantSkin changes: Retractions or dimpling (due to tightening of the Cooper ligaments), Peau d’orange: skin resembling an orange peel (due to obstruction of the lymphatic channels): Redness, oedema, and pitting of the hair folliclesNipple changes: inversion, blood-tinged dischargeAxillary lymphadenopathy: firm, enlarged lymph nodes (> 1 cm in size), that are fixed to the skin or surrounding tissueIn advanced stages: ulcerations

One of the most common congenital viral infections is cytomegalovirus infection. The infection is even commoner than the other widely known diseases like down’s syndrome and spina bifida. It is caused by herpesvirus type 5 and is diagnosed using PCR of saliva. The clinical features include failure to thrive, intellectual disability, epilepsy, and microcephaly. The most common clinical complication is sensorineural deafness. The drug of choice for the treatment of neonatal CMV infection is ganciclovir, an anti-viral drug that has shown to prevent deafness. Cytomegalic inclusion disease is diagnosed at birth with marked neurological disability, resulting from microcephaly, intracerebral calcifications, and cerebral atrophy.

Precocious puberty refers to the appearance of physical and hormonal signs of pubertal development at an earlier age than is considered normal.Most patients, particularly girls suspected of having central precocious puberty, are otherwise healthy children whose pubertal maturation begins at the early end of the normal distribution curveIn a series of more than 200 patients evaluated at a single medical centre, central precocious puberty occurred 5 times more often in girls than boys.GnRH-dependent precocious puberty is treated with GnRH agonists or Luteinizing Hormone Releasing Hormone (LHRH). Follow up every 4-6 months to ensure that progression of puberty has been arrestedFavourable signs include normalization of accelerated growth, reduction (or at least no increase) in size of breasts, and suppression of gonadotropin levels after a challenge of GnRHThe ideal testing frequency has not been established. Monitor bone age yearly to confirm that the rapid advancement seen in the untreated state has slowed, typically to a half year of bone age per year or less