Meckel’s diverticulum is a true diverticulum and is the most common congenital anomaly of the GI tract, occurring in about 2% of people. It is caused by incomplete obliteration of the vitelline duct and consists of a congenital sacculation of the antimesenteric border of the ileum. Symptoms are uncommon but include lower GI bleeding, bowel obstruction, and inflammation (diverticulitis). Causes of upper GI bleeding in neonates:Swallowed maternal bloodCoagulopathies including haemorrhagic disease of the new-bornStress gastritis & stress ulcersDrugs (NSAIDs, heparin, indomethacin used for patent duct closure, dexamethasone)Causes of upper GI bleeding in children 1 month to 1 year:GORDGastritis (with or without Helicobacter pylori infection)Crohn diseaseDrugs (NSAIDs)Zollinger-Ellison syndromeCauses of upper GI bleeding in children 1 -2 years:Peptic ulcer diseaseZollinger-Ellison syndromeBurns (Curling ulcer)Head trauma (Cushing ulcer)SepsisCauses of upper GI bleeding in older than 2 years:Oesophageal varices secondary to portal hypertension (most commonly portal vein thrombosis and biliary atresia)Duodenal ulcersOesophagitisGastritisMallory-Weiss tears

The most appropriate next step in the management of this patient would be to use E45 cream instead of soap. Using a greasier emollient and an antihistamine at night can also be trialled..Management of eczema:Treatment of eczema can be problematic, and thus, parents should be advised regarding simple, everyday measures that can relieve the symptoms. These include:- Using non-biological washing powder- Wearing cotton clothes as opposed to artificial fibres- Avoiding the use of soaps or shampoos and using E45 Cream as an alternative.- Additional use of bath oil (e.g. Oilatum) is found to be beneficial.- Regular emollient use is recommended and essential. The aim is to keep the skin from feeling dry at any time of day. Sedating with older types of antihistamines at night does not help to reduce itching, but when used in large doses, they occasionally provide a sedative effect which may improve sleep. If all these measures are in use, but the eczema is still not controlled, the escalation of treatment would be appropriate. Note: There is no evidence for the benefit of topical antibiotics.

Malabsorption of fat-soluble vitamins is likely in most people with Cystic Fibrosis (CF).Factors that may contribute to fat-soluble vitamin deficiencies in CF include:- Fat maldigestion and malabsorption as a consequence of pancreatic insufficiency and bile salt deficiency.- Fat maldigestion and malabsorption due to suboptimal PERT or poor adherence to PERT especially with vitamin replacement therapy.- Poor dietary intake due to anorexia or poor dietary sources of vitamins.- Poor adherence to prescribed fat-soluble vitamin supplementation.- Inappropriate vitamin supplementation regimens.- Increased utilisation and reduced bioavailability.- Short gut syndrome due to previous bowel resection.- CF-related liver disease.- Chronic antibiotic use.Vitamin A is a fat-soluble vitamin that plays a role in the eye (dark adaptation), skin, respiratory and immune systems. Vitamin A deficiency may cause night blindness and can proceed to xerophthalmia in CF.Severe vitamin D deficiency causes rickets in children and Osteomalacia in adults.Vitamin E acts as an antioxidant reducing the effects of free radicals produced by infection and chronic inflammation, thus helping to protect cell membranes from oxidative damage.Vitamin E deficiency has been associated with haemolytic anaemia in infants and may cause ataxia, neuromuscular degeneration and compromised cognitive function. Oxidative stress is enhanced in CF due to chronic respiratory inflammation.Vitamin K is important for blood coagulation and bone health.

Auscultatory findings of VSD vary with the size of the defect. Small VSDs typically produce murmurs ranging from a grade 1 to 2/6 high-pitched, short systolic murmur (due to tiny defects that actually close during late systole) to a grade 3 to 4/6 holosystolic murmur (with or without thrill) at the lower left sternal border| this murmur is usually audible within the first few days of life (see table Heart Murmur Intensity). The precordium is not hyperactive, and the 2nd heart sound (S2) is normally split and has normal intensity.Moderate to large VSDs produce a holosystolic murmur that is present by age 2 to 3 wk| S2 is usually narrowly split with an accentuated pulmonary component. An apical diastolic rumble (due to increased flow through the mitral valve) and findings of heart failure (e.g., tachypnoea, dyspnoea with feeding, failure to thrive, gallop, crackles, hepatomegaly) may be present. In moderate, high-flow VSDs, the murmur is often very loud and accompanied by a thrill (grade 4 or 5 murmur). With large defects allowing equalization of left ventricular and right ventricular pressures, the systolic murmur is often attenuated.

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.

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.

Correlation is a bivariate analysis that measures the strength of association between two variables and the direction of the relationship.Pearson r correlation: Pearson r correlation is the most widely used correlation statistic to measure the degree of the relationship between linearly related variables. Pearson’s correlation coefficient is the test that measures the statistical relationship, or association, between two continuous variables. It is known as the best method of measuring the association between variables of interest because it is based on the method of covariance. It gives information about the magnitude of the association, or correlation, as well as the direction of the relationship.The non-parametric Spearman or Kendall rank correlation coefficient is used if neither variable has a normal distribution or the sample size is small (i.e. <20).

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 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.

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. Typically, only symptomatic treatment of pruritus with lotions, oral antihistamines, and/or a short course of topical steroids is necessary.

Due to breakdown of the red blood cell membrane in haemophilic patients, cholesterol crystals are formed by the lipids. On the other hand lipofuscin deposition does not occur in haemolysis or haemorrhage. Neutrophil accumulation suggests acute inflammation. Anthracotic pigment is an exogenous carbon pigment that deposits in the lung from dust. Russell bodies are intracellular accumulations of immunoglobins in plasma cells. Curschmann’s spirals and Charcot Leyden crystals are pathognomonic of asthma.

Pulmonary surfactant is a lipoprotein complex that is responsible for preventing the collapse of alveoli and increasing lung compliance.It is produced in the endoplasmic reticulum and secreted from the lamellar bodies of type 2 pneumocytes.Surfactant is essential for reducing surface tension at the air-water interface in the alveoli, thus preventing the collapse of alveoli during expiration. It is composed of dipalmitoyl phosphatidylcholine (DPPC), which is a phospholipid.In fetal development, production of surfactant begins around 26 weeks of gestation and reaches mature levels by 35 weeks.The deficiency of surfactant can result in neonatal respiratory distress syndrome or hyaline membrane disease, particularly in premature new-born babies.

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.

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

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.

Perthes’ disease is a disease of the hip in children. It presents with pain that is typically located in the groin area. The pain is often present only during physical activity. Most children seek medical attention because of limping.

Osgood–Schlatter disease is pain caused by inflammation of the patella tendon at the tibial insertion.

Slipped upper femoral epiphysis occurs classically in adolescence (M:F = 3:2)

Minimal change glomerulonephritis presents with mild or benign urinalysis findings. However, proteinuria together with the presence of oval fat bodies are typical.Minimal change glomerulonephritis (nephropathy) accounts for most cases of childhood nephrotic syndrome and 20–25% of adult nephrotic syndrome.

Internal abdominal bleeding is most probably the cause of the child’s shock, especially unresponsive to fluid boluses.

The most probable diagnosis for this patient would be congenital hypertrophic pyloric stenosis.Congenital Hypertrophic Pyloric Stenosis (CHPS):Pyloric stenosis should be ruled out in any baby who presents with a long-term history of vomiting and failure to thrive. Infants typically present with projectile, non-bilious vomiting and are said to be hungry and wanting to feed despite poor weight gain. A blood gas would be helpful in this instance, although the diagnosis can be made more accurately by observing the stenosis during ultrasound. Many infants have symptoms of gastroesophageal reflux disease, although only a small minority are unable to gain weight adequately. A UTI in infants can present with non-specific symptoms, but they might have a fever and can show poor feeding. Malrotation will present with bilious vomiting.The definitive surgical management is the Ramsteadt’s pyloromyotomy.

Familial adenomatous polyposis can have different inheritance patterns.When familial adenomatous polyposis results from mutations in the APC gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.When familial adenomatous polyposis results from mutations in the MUTYH gene, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.

Stridor is a sign of upper airway obstruction. One of the most common causes of stridor in children is laryngomalacia. In the absence of laryngomalacia, stridor presenting with respiratory distress, few chest signs and no preceding coryza symptoms or fever all point to the inhalation of a foreign object. This is common in children, with a peak incidence between 1 and 2 years of age. This child did not present with a high temperature, usually indicative of epiglottitis . The incidence of epiglottis has decreased due to the H. Influenza type b vaccine. Additionally viral croup and bronchiolitis present with upper respiratory tract infection. Asthma rarely presents with stridor but is rather associated with a wheeze.

Tuberous sclerosis, an autosomal dominant disorder, may present with a variety of symptoms, including seizures, developmental delay, behavioural problems, skin abnormalities, and lung and kidney disease. Hamartomas are often associated.

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

The most common etiological agent for retinitis in HIV infected patients is cytomegalovirus (88.63% of retinitis in HIV/AIDS patients). Most patients have a CD4 lymphocyte count less than 50/μL, which can represent the susceptibility to this type of retinitis when lymphocyte count falls below this threshold. The treatment consists of systemic intravenous administration of Ganciclovir or Foscarnet at a first stage of induction, followed by the maintenance treatment with oral administration of Ganciclovir.

Anorectal malformations (ARMS) are also known as imperforate anus (IA). This is an umbrella term for a group of birth defects which affect the anorectal area.During a normal bowel movement, solid waste passes from the colon (large intestine) to the rectum (the final section the colon) and through the anus. When a child has an ARM, the rectum and the anus do not develop properly.Some types of ARM can cause constipation, faecal and / or urinary incontinence, infections and other problems. Some of these problems are very minor and easy to treat, with great long-term prognosis. Others are complex and affect multiple areas of life, such as sexual function and urinary and bowel control.

Cushing reflex is a physiological nervous system response to increased intracranial pressure (ICP) that results in Cushing’s triad of increased blood pressure, irregular breathing, and bradycardia. It is usually seen in the terminal stages of acute head injury and may indicate imminent brain herniation. It can also be seen after the intravenous administration of epinephrine and similar drugs.

Croup is the most common aetiology for hoarseness, cough, and onset of acute stridor in febrile children. Symptoms of coryza may be absent, mild, or marked. The vast majority of children with croup recover without consequences or sequelae.

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

This clinical presentation is highly suggestive of choking. According to the BLS algorithm, the next step in managing a case of choking in a conscious child with an ineffective cough is five back blows.Other options:- Adrenaline intramuscularly: The history is similar to anaphylaxis, but the absence of a rash or oedema and the acute onset make choking more likely in this situation. Thus, adrenaline will not be of use in this patient.- CPR at a ratio of 15:2: Since the child is conscious, it is not advised. If the child were unconscious, you would commence basic life support.- Five abdominal thrusts: In the given scenario, the child is an infant. Abdominal thrusts are avoided in infants due to the risk of intra-abdominal injury.

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.