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.

Lead can be found in material used for mining, leaded paints and gasoline, glassware, toys, and even cosmetics. Lead poisoning is rare nowadays as the use of lead has been banned from many products. Lead is toxic and in certain concentrations can cause irreversible damage. Children are especially vulnerable as they absorb 4 times as much ingested lead as adults. The typical features of lead poisoning include developmental delay and behavioural disorders, microcytic anaemia, constipation and vomiting. Pulmonary fibrosis, Osteomalacia and cardiomyopathy are not known features of lead poisoning.

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.

Minimal change nephrotic syndrome leads to the loss of anti-thrombin III which protects the body from forming venous emboli. It may be triggered by virus, immunisations, medication, non-Hodgkin lymphoma, or leukaemiaCharacterised by oedema, proteinuria, hypoalbuminemia, and hypercholesterolemia.

A supracondylar humerus fracture is a fracture of the distal humerus just above the elbow joint. The fracture is usually transverse or oblique and above the medial and lateral condyles and epicondyles. This fracture pattern is relatively rare in adults, but is the most common type of elbow fracture in children. They are historically associated with morbidity due to malunion, neurovascular complications, and compartment syndrome. Important arteries and nerves ( median nerve, radial nerve, brachial artery, and ulnar nerve) are located at the supracondylar area and can give rise to complications if these structures are injured. Most vulnerable structure to get damaged is Median Nerve. Damage/occlusion of the brachial artery is the cause of an absent radial pulse.

If the 95% confidence interval contains zero (more precisely, the parameter value specified in the null hypothesis), then the effect will not be significant at the 0.05 level.If the 95% CI for the DIFFERENCE between the 2 groups contains the value 0, this means that the p-value will be greater than 0.05. Conversely, if the 95% CI does not contain the value 0, then the p-value will be strictly less than 0.05. The same applies when comparing groups using a ratio, such as an odds ratio or risk ratio. When using a RATIO instead of a DIFFERENCE, the situation of no difference between the 2 groups will be indicated by a value of 1 instead of 0. If the ratio equals to 1, the 2 groups are equal. Hence, if the 95% CI of the ratio contains the value 1, the p-value will be greater than 0.05. Alternatively, if the 95% CI does not contain the value 1, the p-value is strictly less than 0.05.

Based on the clinical scenario, the most likely underlying pathogen is the Epstein Barr virus (EBV).An Epstein Barr virus (EBV) infection most commonly results in upper respiratory tract symptoms with fever and sore throat. Lymphadenopathy is frequently palpable on examination. Splenomegaly may also occur, and for this reason, patients diagnosed with glandular fever should be advised to avoid contact sports for one month following diagnosis. The presence of petechiae on the soft palate is also associated with EBV infection. The vast majority of patients with active EBV infection will develop a widespread rash if given amoxicillin, therefore, phenoxymethylpenicillin (Penicillin V) is recommended for the treatment of a suspected bacterial throat infection to prevent this complication occurring for individuals who have EBV infection.Other options:- Coronavirus: This is one of the causes of the common cold and is frequently responsible for sore throats| however, in this case, the presenting features are more suggestive of an EBV infection.- Group A Streptococcus: Streptococci are classified into two main groups| alpha-haemolytic and beta-haemolytic. Group A Streptococcus belongs to the beta-haemolytic group. Group A streptococcal infection is a common cause of bacterial tonsillitis. It is possible that the child, in this case, had streptococcal tonsillitis and has had a drug reaction to the amoxicillin. However her age, flu-like symptoms and petechiae on her palate all point to an EBV infection and amoxicillin resulting in a rash.- Parainfluenza: Parainfluenza viruses are one of many causes of the common cold and can cause pharyngitis. They are the leading cause of viral croup.- Rhinovirus: Rhinoviruses are one of many causes of the common cold and are frequently responsible for sore throats| however, in this case, are other factors suggesting EBV infection.

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.

Hypertrophic villi is a response to chronic irritation by allergic reactions

The hypoglossal nerve (CN XII) provides motor innervation to all of the intrinsic and extrinsic muscles of the tongue except for the palatoglossus muscle, which is innervated by the vagus nerve (CN X). It runs superficial to the hyoglossus muscle. Lesions of the hypoglossal nerve cause deviation of the tongue to the ipsilateral (i.e., damaged) side.Taste to the anterior two-thirds of the tongue is achieved through innervation from the chorda tympani nerve, a branch of the facial nerve (CN VII). General sensation to the anterior two-thirds of the tongue is by innervation from the lingual nerve, a branch of the mandibular branch of the trigeminal nerve (CN V3). The lingual nerve is located deep and medial to the hyoglossus muscle and is associated with the submandibular ganglion.On the other hand, taste to the posterior one-third of the tongue is accomplished through innervation from the glossopharyngeal nerve (CN IX), which also provides general sensation to the posterior one-third of the tongue.Taste perception also is performed by both the epiglottis and the epiglottic region of the tongue, which receives taste and general sensation from innervation by the internal laryngeal branch of the vagus nerve (CN X). Damage to the vagus nerve (CN X) causes contralateral deviation (i.e., away from the injured side) of the uvula.

Based on the history and clinical presentation, she most likely has iron toxicity.Iron can cause scarring of the gut mucosa. This explains her pyloric stenosis. This typically occurs at the pylorus as this is where iron tablets tend to pool and cause maximal tissue damage.Other options:- Citalopram: Selective serotonin reuptake inhibitors (SSRIs) ingestion rarely causes serious consequences. It can rarely lead to serotonin syndrome (autonomic instability, mental status change, and increased neuromuscular tone).- Ibuprofen: While it may cause gastritis, ibuprofen does not cause pyloric/intestinal stenosis.- Thyroxine: An overdose of thyroxine will cause features of hyperthyroidism which are not present in the patient in question.- Zinc: High doses of zinc can cause abdominal cramps, nausea, vomiting and diarrhoea.

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.

Tuberous sclerosis presents with the growth of numerous noncancerous (benign) tumours in many parts of the body. They may appear in the brain, kidneys, skin or various other organs.

Intussusception is a condition in which one segment of intestine telescopes inside of another, causing an intestinal obstruction. Although intussusception can occur anywhere in the gastrointestinal tract, it usually occurs at the junction of the small and large intestines. Most describe the symptoms of intussusception as a triad of colicky abdominal pain, bilious vomiting, and currant jelly stool. The primary symptom of intussusception is described as intermittent crampy abdominal pain.

The clinical picture suggests that the child is severely dehydrated. IV fluid bolus then IV maintenance fluids is the correct option.

The diagnosis of a post-splenectomy/hyposplenism blood picture can be made reliably by identifying Howell Jolly bodies in routine Wright-Giemsa stained blood and target cells. These are round basophilic bodies in red blood cells that represent residual nuclear material from marrow nucleated red cell precursors that are usually culled out by the spleen.These do not occur in individuals with normally functioning splenic tissue and their presence indicates either 1) an asplenic state or 2) hypofunctioning splenic tissue as might be seen in a patient with late-stage sickle cell anaemia. Their presence in an individual with splenomegaly leads to a narrow differential diagnosis and their absence in a splenectomised individual indicates accessory splenic Heinz bodies and poikilocytosis typically increase in a splenectomised individual and care must be taken not to overdiagnose haemolysis in such an individual.

The boy suffers from balanitis xerotica obliterans (BXO) which is surgically treated with circumcision and urethral calibration. In fact, the condition is the only true medical indication for circumcision.

Hematopoietic stem cells (HSCs) are a rare population of cells residing in the bone marrow (BM) and continuously replenish all mature blood cells throughout their life span.

The drainage of cerebral spinal fluid from the third ventricle to the fourth ventricle is carried out by the cerebral aqueduct. The cerebral aqueduct is the narrowest passageway in the entire ventricular system and thus forms the most common site of blockage of flow of cerebrospinal fluid. The interventricular foramen allows passage of CSF to the third ventricle. The foramen of Luschka and Magendie are located on the fourth ventricle and allow passage of CSF to the subarachnoid space from the ventricular system. The pontine cistern is a space located on the ventral aspect of the pons. The cisterna magna is an opening on the subarachnoid space between the pia matter and the arachnoid.

The most overt phenotypic features of Klinefelter syndrome are caused by testosterone deficiency and, directly or indirectly, by unsuppressed follicle-stimulating and luteinizing hormones. Affected men typically have (in decreasing order of frequency): infertility, small testes, decreased facial hair, gynecomastia, decreased pubic hair, and a small penis. Because of their long legs, men with Klinefelter syndrome often are taller than predicted based on parental height. Body habitus may be feminized. In childhood, when there is a relative quiescence in the hormonal milieu, ascertainment of the syndrome may be difficult because the effects of hypogonadism (i.e., small external genitalia and firm testes) may be subtle or not present at all.

The most appropriate action in this baby would be to perform HIV PCR and commence cART and PCP prophylaxis if HIV positive.Treatment guidelines for HIV-positive infants state that all should receive combination antiretroviral therapy (cART) and Pneumocystis jiroveci pneumonia (PJP) prophylaxis, irrespective of CD4 count or viral load.

Sturge-Weber syndrome (SWS), also called encephalotrigeminal angiomatosis, is a neurocutaneous disorder with angiomas that involve the leptomeninges (leptomeningeal angiomas [LAs]) and the skin of the face, typically in the ophthalmic (V1) and maxillary (V2) distributions of the trigeminal nerve. The hallmark of SWS is a facial cutaneous venous dilation, also referred to as a nevus flammeus or port-wine stain (PWS).Signs and symptoms:SWS is generally diagnosed clinically, based on the typical cutaneous, central nervous system (CNS), and ocular abnormalities associated with it.Neurological signs include the following:Developmental delay/intellectual disabilityLearning problemsAttention deficit-hyperactivity disorderInitial focal seizures progressing to frequent, secondarily generalized seizuresIncreasing seizure frequency and duration despite the use of antiepileptic drugs (AEDs)Increasing duration of a transient postictal deficitIncrease in focal or diffuse atrophy – Determined by serial neuroimagingProgressive increase in calcificationsDevelopment of hemiparesisDeterioration in cognitive functioningPhysical signs of SWS are as follows:Port-wine stainMacrocephalyOcular manifestationsSoft-tissue hypertrophyHemiparesisVisual lossHemianopsiaOcular involvement in SWS may include the following signs:BuphthalmosGlaucomaTomato-catsup colour of the fundus (ipsilateral to the nevus flammeus) with glaucomaConjunctival and episcleral haemangiomasDiffuse choroidal haemangiomasHeterochromia of the iridesTortuous retinal vessels with occasional arteriovenous communications

The glossopharyngeal nerve is the primary sensory nerve for the tonsillar fossa. The lesser palatine nerve makes a smaller contribution. Because of this, otalgia may occur following tonsillectomy.Anatomical Rationale:Each palatine tonsil has two surfaces, a medial surface which projects into the pharynx and a lateral surface that is embedded in the wall of the pharynx.The primary arterial supply is from the tonsillar artery, a branch of the facial artery. Its veins pierce the constrictor muscle to join the external palatine or facial veins. The external palatine vein is immediately lateral to the tonsil, which may result in bleeding during a tonsillectomy.Lymphatic drainage is the jugulodigastric node and the deep cervical nodes.TonsillitisThe inflammation of tonsils is usually due to bacterial aetiology (50%) – group A Streptococcus, the remainder of the causes are viral.May be complicated by the development of an abscess (quinsy), which may distort the uvula.Indications for tonsillectomy include recurrent acute tonsillitis, and enlargement causing sleep apnoea.Dissection tonsillectomy is the preferred technique with haemorrhage being the most frequent complication. Delayed otalgia may occur owing to irritation of the glossopharyngeal nerve.

Café-au-lait spots is hyperpigmented lesions that vary in colour from light brown to dark brown, with borders that may be smooth or irregular. Causes include:
Neurofibromatosis type I
McCune–Albright syndrome
Legius syndrome
Tuberous sclerosis
Fanconi anaemia
Idiopathic
Ataxia-telangiectasia
Basal cell nevus syndrome
Benign congenital skin lesion
Bloom syndrome
Chediak-Higashi syndrome
Congenital nevus
Gaucher disease
Hunter syndrome
Maffucci syndrome
Multiple mucosal neuroma syndrome
Noonan syndrome
Pulmonary Stenosis
Silver–Russell syndrome
Watson syndrome
Wiskott–Aldrich syndrome

A complete course of DPT should be given.

This child has pseudo hypoparathyroidism. It is a heterogeneous group of rare endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcaemia, hyperphosphatemia, and increased serum concentration of PTH.Patients with pseudo hypoparathyroidism type 1a present with a characteristic phenotype collectively called Albright hereditary osteodystrophy (AHO). The constellation of findings includes the following:Short statureStocky habitusObesityDevelopmental delayRound faceDental hypoplasiaBrachymetacarpalsBrachymetatarsalsSoft tissue calcification/ossificationThe goals of therapy are to maintain serum total and ionized calcium levels within the reference range to avoid hypercalcaemia and to suppress PTH levels to normal. This is important because elevated PTH levels in patients with PHP can cause increased bone remodelling and lead to hyper-parathyroid bone disease.The goals of pharmacotherapy are to correct calcium deficiency, to prevent complications, and to reduce morbidity. Intravenous calcium is the initial treatment for all patients with severe symptomatic hypocalcaemia. Administration of oral calcium and 1alpha-hydroxylated vitamin D metabolites, such as calcitriol, remains the mainstay of treatment and should be initiated in every patient with a diagnosis of pseudo hypoparathyroidism.

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.

The average age for girls to begin puberty is 11.The first sign of puberty in girls is usually that their breasts begin to develop.It’s normal for breast buds to sometimes be very tender or for one breast to start to develop several months before the other one.Pubic hair also starts to grow, and some girls may notice more hair on their legs and arms.After a year or so of puberty beginning, and for the next couple of years:girls’ breasts continue to grow and become fuller.Around 2 years after beginning puberty, girls usually have their first period,pubic hair becomes coarser and curlierunderarm hair begins to grow. From the time their periods start, girls grow 5 to 7.5cm (2 to 3 inches) annually over the next year or two, then reach their adult height.After about 4 years of puberty in girls:breasts become adult-likepubic hair has spread to the inner thighgenitals should now be fully developedgirls stop growing taller.

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.

There are 6 pharyngeal arches, the fifth does not contribute any useful structures and often fuses with the sixth arch. The structures arising from the aortic arches are as follows:First aortic arch: It regresses except for a very small part that gives rise to the maxillary artery.Second aortic arch: It regresses except for a very small part giving rise to the stapedial artery.Third aortic arch: This arch is the source of the common carotid artery and the proximal part of the internal carotid artery, and the external carotid which arises as a bud from this arch.Right Fourth aortic arch: Is the genesis of the proximal part of the right subclavian artery.Left Fourth aortic arch: Gives rise to the medial portion of the arch of the aorta.Fifth aortic arch: The fifth aortic arch regresses completely and very early in the development.Sixth aortic arch: Either of the sixth aortic arches divides into ventral and dorsal segments, and therefore, their derivatives also divide into these two segments.Right Sixth Arch:Ventral: Gives rise to the right pulmonary artery.Dorsal: It degenerates completely and loses its connection with the dorsal aorta.Left Sixth ArchVentral: It gives rise to the left pulmonary artery that goes to the left pulmonary bud.Dorsal: It forms a vital connection during intrauterine life between the left pulmonary artery and the arch of the aorta. This structure is called ductus arteriosus.