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.

Acute epiglottitis is a life-threatening disorder with serious implications to the anaesthesiologist because of the potential for laryngospasm and irrevocable loss of the airway. There is inflammatory oedema of the arytenoids, aryepiglottic folds and the epiglottis| therefore, supraglottitis may be used instead or preferred to the term acute epiglottitis.Acute epiglottitis can occur at any age. The responsible organism used to be Hemophilus influenzae type B (Hib), but infection with group A b-haemolytic Streptococci has become more frequent after the widespread use of Hemophilus influenzae vaccination. The typical presentation in epiglottitis includes acute occurrence of high fever, severe sore throat and difficulty in swallowing with the sitting up and leaning forward position in order to enhance airflow. There is usually drooling because of difficulty and pain on swallowing. Acute epiglottitis usually leads to generalized toxaemia. The most common differential diagnosis is croup and a foreign body in the airway. A late referral to an acute care setting with its serious consequences may result from difficulty in differentiation between acute epiglottitis and less urgent causes of a sore throat, shortness of breath and dysphagia.

Administration of IV prostaglandin/PGE1 (e.g., alprostadil) is indicated in ductal-dependent CHDs until surgery can be performedMechanism: prostaglandin prevents the ductus arteriosus from closing → creates intentional shunt to allow mixing of deoxygenated with oxygenated blood.

Primitive reflexes are central nervous system responses, many of which disappear as a child matures. Retention of these reflexes may point to atypical neurology such as in cerebral palsy or stroke. However, some persist into adulthood. The stepping reflex is present from birth and normally disappears by 6 weeks, while the moro reflex is present from birth to about 4 months. The asymmetrical tonic neck reflex disappears by about 6 months. Reflexes that persist include the head righting reflex which develops at 6 months, and the parachute reflex which develops at 9 months.

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.

Based on the clinical scenario, the most probable diagnosis for this patient is pancreatitis.Although rare in childhood, the presence of abdominal pain radiating to the back with shock and tachycardia, and a raised amylase, should raise a suspicion of pancreatitis. Possible causes include trauma, drugs, viral illness, mumps, hyperparathyroidism, hyperlipidaemia and cystic fibrosis. Other options:- Normal LFTs in this patient make hepatitis unlikely. – Gastroenteritis with severe diarrhoea and vomiting may account for the shock and tachycardia, but guarding on abdominal examination and the raised amylase would not be explained by gastroenteritis. – Pregnancy is an important diagnosis to consider in an adolescent with abdominal pain, but the raised amylase and other features point to a diagnosis of pancreatitis.

Cystic fibrosis is a genetic disease that interferes with the normal development of the child. It manifests with recurrent episodes of pneumonia accompanied by coughing, wheezing and dyspnoea. The appetite is normal but weight gain seems difficult. This condition also affects bowel habits with repeated gastrointestinal infections. The gold standard for the diagnosis is considered the sweat test which reveals abnormally high levels of Cl-.

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 main result of a correlation is called the correlation coefficient (or r). It ranges from -1.0 to +1.0. The closer r is to +1 or -1, the more closely the two variables are related.If r is close to 0, it means there is no relationship between the variables. If r is positive, it means that as one variable gets larger the other gets larger. If r is negative it means that as one gets larger, the other gets smaller (often called an inverse correlation).

The most commonly requested biochemistry tests for renal function are the urea and electrolytes. They supply important information when it comes to homeostasis and excretion. Glomerular filtration rate is also the essential standard marker of kidney health and is assessed by checking the creatinine levels. In this case as the child has lost fluids and electrolytes, this test will indicate the extent of the loss and allow for more appropriate replacement.

Crossover trials are characterized by the switching of study participants throughout the treatment groups, keeping a random order of switching. This randomization is important to determine any carry-over effect of different treatment modalities. The benefit of this study is the evaluation of the efficacy of various short-term treatment options for the relief of chronic conditions. The washout period is small in this type of study. Crossover studies are more efficient than the parallel studies, but they should be used according to the treatment options and outcomes.

Among the provided options, we would expect a normally developing 18-month-old child to be able to carry toys while walking.At 18 months, a normally developing child will show the following gross motor abilities:- walks with the feet slightly apart- runs carefully with the head held high- pushes and pulls objects around the floor- walks upstairs if the hand is held- kneels on a flat surface without support- carry toys while walking.Other options:- Intentionally kicking a ball is a skill typically acquired by 2.5 years, not 18 months.- Jumping with two feet together from a small step is usually acquired by 2.5 years, not 18 months.- Propelling a tricycle forwards by pushing with the feet on the floor is a milestone generally acquired by 2 years, not 18 months.- Throwing a small ball overhand without falling is a milestone for children aged 2 years, not 18 months.

Impetigo appears more commonly on the face than other exposed areas like the limbs. Its blisters are clustered and may have a fluid discharge.

Vitamin A is a fat-soluble compound occurring in various forms. The RDA for 0-12 months old babies is 400-600micrograms/day. Most of the vitamin A is stored in the liver, making animal liver an excellent source of vitamin A. Vitamin A deficiency is characterized by the deposits of keratin in the conjunctiva, known as Bitot’s spots, keratomalacia, night blindness, and anaemia.Vitamin A toxicity or excess is characterized by hyperkeratosis, hypothyroidism, hypo/hyperpigmentation, etc.According to WHO guidelines, children under two years of age who develop measles should be given two additional doses of vitamin A supplementation 24 hours apart, which is necessary for preventing eye damage, blindness, and reducing mortality by 50%.

The most obvious sign of a congenital cataract in a child less than 1 year would be a strabismus/squint. A 12 month old child is unable to complain of loss of visual acuity and the child is likely to see well in one eye ruling out clumsiness. Amblyopia may also be difficult to test at this age unless it presents with the strabismus. ‘White’ red reflexes usually only present in very mature congenital cataracts.

A complete course of DPT should be given.

The organisms most likely to cause post-splenectomy sepsis include:- Streptococcus pneumoniae- Haemophilus influenzae- MeningococciEncapsulated organisms carry the most significant pathogenic risk following splenectomy. Hyposplenism:It may complicate certain medical conditions where splenic atrophy occurs or maybe the result of medical intervention such as splenic artery embolization and splenectomy for trauma. The diagnosis of hyposplenism is difficult, and while there may be peripheral markers of the splenectomised state (e.g. Howell-Jolly bodies), these are neither 100% sensitive or specific. The most sensitive test is a radionucleotide labelled red cell scan.It dramatically increases the risk of post-splenectomy sepsis, particularly with encapsulated organisms. Since these organisms may be opsonized, but this then goes undetected at an immunological level due to loss of the spleen. For this reason, individuals are recommended to be vaccinated and have antibiotic prophylaxis.Key recommendations:- All those with hyposplenism or prior to an elective splenectomy should receive pneumococcal, Haemophilus type b and meningococcal type C vaccines. These should be administered two weeks before or two weeks following splenectomy. The vaccine schedule for meningococcal disease primarily consists of a dose of Men C and Hib at two weeks and then a dose of the MenACWY vaccine one month later. Those aged under two may require a booster at two years. A dose of pneumococcal polyvalent polysaccharide vaccine (PPV) is given at two weeks. A conjugate vaccine (PCV) is offered to young children. The PCV is more immunogenic but covers fewer serotypes. Boosting PPV is either guided by serological measurements (where available) or by routine boosting doses at five-yearly intervals.Annual influenza vaccination is recommended in all cases- Antibiotic prophylaxis is offered to all. The risk of post-splenectomy sepsis is highest immediately following splenectomy. Individuals with an inadequate response to pneumococcal vaccination are another high-risk group. High-risk individuals should be counselled to take penicillin or macrolide prophylaxis. Those at low risk may choose to discontinue therapy. All patients should be advised about taking antibiotics early in the case of intercurrent infections.- Asplenic individuals travelling to malaria-endemic areas are at high risk and should have both pharmacological and mechanical protection.

Diabetes ketoacidosis is one of the most serious and acute complications of diabetes. At the time of presentation and during treatment of diabetic ketoacidosis (DKA), several metabolic and electrolyte derangements can ultimately result in respiratory compromise. Most commonly, hypokalaemia, hypomagnesemia and hypophosphatemia can eventually lead to respiratory muscles failure. Furthermore, tachypnoea, hyperpnea and more severely, Kussmaul breathing pattern can develop. Also, hydrostatic and non-hydrostatic pulmonary oedema can occur secondary to volume shifts into the extracellular space and secondary to increased permeability of the pulmonary capillaries. The presence of respiratory failure in patients with DKA is associated with higher morbidity and mortality. Being familiar with the causes of respiratory compromise in DKA, and how to treat them, may represent better outcomes for patients with DKA.

Pulmonary arterial hypertension (PH) is noted in 9 to 35 % of patient with a secundum type ASD. The haemodynamic definition of PH is a mean pulmonary arterial pressure (mPAP) of ≥25 mmHg at rest by means of right heart catheterization. In ASD, The findings on physical examination depend on the degree of left-to-right shunt and its hemodynamic consequences, which, in turn, depends on the size of the defect, the diastolic properties of both ventricles, and the relative resistance of the pulmonary and systemic circulations.Blood flow across the atrial septal defect (ASD) does not cause a murmur at the site of the shunt because no substantial pressure gradient exists between the atria. However, ASD with moderate-to-large left-to-right shunts results in increased right ventricular stroke volume across the pulmonary outflow tract creating a crescendo-decrescendo systolic ejection murmur. This murmur is heard in the second intercostal space at the upper left sternal border.Patients with large left-to-right shunts often have a rumbling mid-diastolic murmur at the lower left sternal border because of increased flow across the tricuspid valve.ASD is an acyanotic lesion. Thus, the patient should be normally saturated. In the rare case of severe pulmonary arterial hypertension, atrial shunt reversal (Eisenmenger syndrome) may occur, leading to cyanosis and clubbing

Among the given options, pituitary adenoma is an acquired anterior pituitary disorder which represent between 10 and 25% of all intracranial neoplasms.Other options:- Agenesis of the corpus callosum is characterised by the partial or complete absence of the corpus callosum. This condition is associated with pituitary hormone deficiencies.- Congenital disorders such as hydrocephalus or arachnoid cysts may be a cause of precocious puberty.- Pituitary hypoplasia and septo-optic dysplasia are congenital disorders of the pituitary gland.

The Five P’s: pain, pulselessness, paraesthesia, paralysis, and pallor, are the most common symptoms of compartment syndrome. However, late signs of the condition include the absence of distal pulses.

The selection process is based on five requirements and essentially aims to select a random representative cohort through:1.Isolating a group for which there is a greater or lesser chance of detecting a possible difference between the treatments compared|2.Establishing a homogeneous group in order to reduce the variability of response, thus making statistical comparison more sensitive and decreasing the risk of bias due to the constitution of non-homogeneous groups|3.Obtaining representative samples of the affection studied|4.Defining the rules corresponding to realistic recruitment|5.Respecting ethical obligations.

To prevent mother to child transmission in the case of an HIV infected mother, guidelines have been put in place in the that guide practices. During pregnancy the risk of intrauterine transmission is quite low, as is the risk of transmission during vaginal delivery. As a result the number of women that choose to have caesarean sections have fallen, with vaginal births increasing by 40%. One factor that can however increase the risk of mother to child HIV transmission is concurrent Hepatitis C infection which double the risk of vertical transmission.

Ipecac, or syrup of ipecac (SOI), is a medication once used to induce vomiting. Its medical use has virtually vanished, and it is no longer recommended for routine use in toxic ingestion. The abuse of SOI as a purgative in eating disorders, however, is increasing. Ipecac has a high safety profile. Common side effects include prolonged vomiting (greater than 1 hour), lethargy, somnolence, diarrhoea, fever, irritability. More severe complications can consist of aspiration pneumonia, Mallory-Weiss tears, pneumomediastinum, and gastric rupture.The abuse of syrup of ipecac by patients with major eating disorders have been shown to have toxic effects on the skeletal and cardiac muscle.

On electrocardiography (ECG), characteristic changes in patients with hypercalcemia include:Tall T wavesReduced QTProlonged and depressed STArrhythmiaOther electrolyte disturbances:Hypokalaemia:Flat T wavesST depressionU waveAtrial and ventricular ectopicsVF and VTHyperkalaemia:Tall T wavesST- changesReduced QT intervalIncreased PR intervalSmaller or absent P wavesWidened QRS, broadening to VFHypocalcaemia:Prolonged QTProlonged STFlat or absent T wavesU waves

The most likely organism is enterohemorrhagic verotoxin-producing E.coli. It usually causes haemolytic uremic syndrome.

Crohn’s disease rarely manifests in an acute manner.

Polio and giardiasis usually manifest with non-bloody diarrhoea.

Thread worms don’t always cause symptoms, but people often experience itchiness around their bottom or vagina. It can be worse at night and disturb sleep.

Urine culture confirms a diagnosis of a UTI. A kidney ultrasound will be the next best investigation because it will help us to visualise the bladder, kidneys, and ureters to rule out any congenital obstruction in the urinary tract that might be the actual cause of infection in this 2-month old girl.

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.

Physiological jaundice is the condition in which there is a yellow discolouration of the eyes and the skin of the baby caused by the build up of bilirubin in the blood due to an immature liver. No other symptoms accompany physiological jaundice, thus it will not present with difficulty in feeding. All the other conditions listed can present with feeding problems.

A minority of affected individuals may experience severe liver failure. This happens most frequently in people with Wilson’s disease during adolescence and more commonly in women. These individuals may rapidly develop signs and symptoms of liver disease, often associated with anaemia due to breakdown of red blood cells (haemolysis) and mental confusion. In some patients, liver disease does not reveal itself, and the patient develops neurologic (brain-related) symptoms. 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. Almost all affected individuals with the neurological symptoms of Wilson’s disease have Kayser-Fleischer rings in their eyes that can be identified by a slit lamp examination.