A written protocol is important in clinical research as it helps to decrease bias with early findings as the process of the trial has been documented in advance. To show that the study has been properly undertaken before commencing, the investigators must document their names| they must describe the process, detail the analysis that will be undertaken, and provide a power calculation. The ethics committee does not always need to see the protocol.

History is suggestive of a possible hearing impairment. As the baby is vocalizing and has normal motor development, an isolated hearing problem is possible. A hearing test will confirm the diagnosis.

The most appropriate procedure in the surgical management of this child would be to perform an appendicostomy for anterior continence enemas (Malone procedure).Idiopathic constipation leading to faecal incontinence is managed in a stepwise progression, first with laxatives such as movicol, enemas and stronger laxatives and in younger children inter-sphincteric injection of botox may be performed. Following this either anal irrigation or antegrade continence enemas are performed. Appendicostomy for anterior continence enemas allow colonic washouts and thereby rapid achievement of continence.Other options:- Defunctioning Ileostomy: Although an option in extreme cases, an ACE stoma would be more appropriate in this child.- Laparotomy for resection of the megarectum is performed if ACE stoma fails due to megarectum.- Left hemicolectomy is a procedure reserved for slow-transit colons to increase transit time.- Bishop-Koop stoma: It is a procedure of historical significance. It is a way of washing out and managing meconium ileus.

Not being able to form a sentence at the age of 18 months is quite normal. A combination of two words to form a sentence can be done by 2 years of age.

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.

People with Gilbert syndrome have a build-up of unconjugated bilirubin in their blood (unconjugated hyperbilirubinemia). In affected individuals, bilirubin levels fluctuate and very rarely increase to levels that cause jaundice. Gilbert syndrome is usually recognized in adolescence. If people with this condition have episodes of hyperbilirubinemia, these episodes are generally mild and typically occur when the body is under stress, for instance because of dehydration, prolonged periods without food (fasting), illness, vigorous exercise, or menstruation. Some people with Gilbert syndrome also experience abdominal discomfort or tiredness. However, approximately 30 percent of people with Gilbert syndrome have no signs or symptoms of the condition and are discovered only when routine blood tests reveal elevated unconjugated bilirubin levels.

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

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.

To quantify differences between percentages you can use Fisher’s exact test.Odds ratios, relative risks and number needed to treat are ways of quantifying differences between percentages in two groups, however are not in themselves significance tests.

Infective endocarditis (IE) is defined as an infection of the endocardial surface of the heart.Fever, possibly low-grade and intermittent, is present in 90% of patients with IE. Heart murmurs are heard in approximately 85% of patients.One or more classic signs of IE are found in as many as 50% of patients. They include the following:- Petechiae: Common, but nonspecific, finding- Subungual (splinter) haemorrhages: Dark-red, linear lesions in the nail beds -Osler nodes: Tender subcutaneous nodules usually found on the distal pads of the digits- Janeway lesions: Nontender maculae on the palms and soles- Roth spots: Retinal haemorrhages with small, clear centres| rareSigns of neurologic disease, which occur in as many as 40% of patients, include the following:- Embolic stroke with focal neurologic deficits: The most common neurologic sign- Intracerebral haemorrhage- Multiple microabscessesOther signs of IE include the following:- Splenomegaly- Stiff neck- Delirium- Paralysis, hemiparesis, aphasia- Conjunctival haemorrhage- Pallor- Gallops- Rales- Cardiac arrhythmia- Pericardial rub- Pleural friction rub

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

Based on the presentation, the developmental age of the child is 8 months.The primitive reflexes are indicators of functional integrity and maturity. The majority of reflexes do not persist beyond 6 months of age. There are 13 reflexes of importance, including:- Moro reflex- Startle reflex- Rooting reflex- Sucking reflex- Grasp reflex- Voluntary palmar grasp reflex- Voluntary reach reflex- Stepping reflex- Asymmetrical tonic neck reflex (ATNR)- Parachute reflex- Plantar reflex- Tendon reflex- ClonusIt is interesting to note that gastrocolic reflex is not a primitive reflex.Ninety-five per cent of reflexes will have disappeared by the ages shown below:- 6 weeks: Stepping- 3-4 months: Palmar grasp and Moro- 6 months: Sucking, rooting, and asymmetrical tonic neck reflex (ATNR)

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. It also leads to multiple complications, out of which the incidence of chorioamnionitis is very high. Other complications include fetal growth retardation, limb contractures, GI atresia, and even fetal death.

Three physical changes – breast budding, pubic hair growth, and axillary hair growth in the order mentioned precede menarche. These changes are due to oestrogen, a hormone essential for pubertal development.The various pubertal changes in males include:-Testicular growth: It is the first sign of puberty occurring at around 12 years of age (Range = 10 – 15 years).- Testicular volume: An increase in the volume of testicles to 4 ml indicates the onset of pubertyThe various pubertal changes in females include:- The first sign is breast development at around 11.5 years of age (range = 9-13 years)- Followed by the onset of height spurt reaching the maximum in puberty (at 12 years of age)- The final change that occurs is termed menarche at 13 (11-15) years of age.Some of the other pubertal changes include:- Gynecomastia may develop in boys- Asymmetrical breast growth may occur in girls- Diffuse enlargement of the thyroid gland

The progesterone is primarily responsible for preventing pregnancy. The main mechanism of action is the prevention of ovulation| they inhibit follicular development and prevent ovulation. Progestogen negative feedback works at the hypothalamus to decreases the pulse frequency of gonadotropin-releasing hormone. This, in turn, will decrease the secretion of follicle-stimulating hormone (FSH) and decreases the secretion of luteinizing hormone (LH). If the follicle isn’t developing, then there is no increase in the oestradiol levels (the follicle makes oestradiol). The progestogen negative feedback and lack of oestrogen positive feedback on LH secretion stop the mid-cycle LH surge. With no follicle developed and no LH surge to release the follicle, there is the prevention of ovulation. Oestrogen has some effect with inhibiting follicular development because of its negative feedback on the anterior pituitary with slows FSH secretion| it’s just not as prominent as the progesterone’s effect. Another primary mechanism of action is progesterone’s ability to inhibit sperm from penetrating through the cervix and upper genital tract by making the cervical mucous unfriendly. Progesterone induced endometrial atrophy should deter implantation, but there is no proof that this occurs.

A preterm with respiratory distress syndrome presents with the condition as a result of immature lungs and inadequate surfactant production. Management of RDS therefore includes surfactant therapy, oxygen administration and mechanical ventilation, as well as measures such maintaining acid base levels and blood haemoglobin in an intensive care unit. Dexamethasone is not shown to be particularly effective when given to a preterm, but can however be used to prevent or decrease RDS severity when given to the mother before delivery.

The symptoms of a partial generalized seizure are consistent with this patient.

Juvenile angiofibroma (JA) is a rare benign vascular lesion of the skull base that affects young adolescent males. The management of JA is challenged by the abundant vascular blood supply of the lesion, along with the complex anatomy of the skull base and the young age of the affected population. JA typically affects the male population, most commonly between 9 and 19 years of age. The most frequent symptoms are nasal obstruction and epistaxis. Nasal obstruction may be bilateral despite the unilaterality of the lesion, due to nasopharyngeal extension as well as deviation of the nasal septum by the expansile lesion. Epistaxis is usually brisk and intermittent. Purulent nasal discharge and facial pain can be due to sinus drainage pathway obstruction, and conductive hearing loss indicates obstruction of the eustachian tube.

Answer: Curling’s ulcersCurling’s ulcer is an acute gastric erosion resulting as a complication from severe burns when reduced plasma volume leads to ischemia and cell necrosis (sloughing) of the gastric mucosa. The most common mode of presentation of stress ulcer is the onset of acute upper GI bleed like hematemesis or melena in a patient with the acute critical illness. A similar condition involving elevated intracranial pressure is known as Cushing’s ulcer. Cushing’s ulcer is a gastro-duodenal ulcer produced by elevated intracranial pressure caused by an intracranial tumour, head injury or other space-occupying lesions. The ulcer, usually single and deep, may involve the oesophagus, stomach, and duodenum. Increased intracranial pressure may affect different areas of the hypothalamic nuclei or brainstem leading to overstimulation of the vagus nerve or paralysis of the sympathetic system. Both of these circumstances increase secretion of gastric acid and the likelihood of ulceration of gastro-duodenal mucosa.Mallory-Weiss syndrome is characterized by upper gastrointestinal bleeding secondary to longitudinal mucosal lacerations (known as Mallory-Weiss tears) at the gastroesophageal junction or gastric cardia. However, Mallory-Weiss syndrome may occur after any event that provokes a sudden rise in the intragastric pressure or gastric prolapse into the oesophagus, including antecedent transoesophageal echocardiography. Precipitating factors include retching, vomiting, straining, hiccupping, coughing, primal scream therapy, blunt abdominal trauma, and cardiopulmonary resuscitation. In a few cases, no apparent precipitating factor can be identified. One study reported that 25% of patients had no identifiable risk factors.

A micturating cystourethrogram (MCUG) is one type of imaging test also called a voiding cystourethrogram (VCUG). The MCUG can check whether the flow of urine from the child’s bladder is being blocked, or whether it goes up the wrong way. It can help diagnose certain conditions, including vesicoureteral reflux and posterior urethral valves.

Diffuse proliferative glomerulonephritis is a term used to describe a distinct histologic form of glomerulonephritis common to various types of systemic inflammatory diseases, including autoimmune disorders (e.g., systemic lupus erythematosus [SLE]), vasculitis syndromes (e.g., granulomatosis with polyangiitis), and infectious processes. In DPGN, more than 50% of the glomeruli (diffuse) show an increase in mesangial, epithelial, endothelial (proliferative), and inflammatory cells (i.e., glomerulonephritis).

Apgar is a quick test performed on a baby at 1 and 5 minutes after birth. The 1-minute score determines how well the baby tolerated the birthing process. The 5-minute score tells the health care provider how well the baby is doing outside the mother’s womb. More specifically, five components are assessed and these are the appearance (A), the pulse (P), the grimace (G), the activity (A) and the respiration (R). A normal APGAR score is considered to be 10 points, 2 points given for each normal component. In this case, 1 point is given for the appearance due to the bluish extremities, 2 points are given for the pulse which is higher than 100 bpm, 1 point is given for the grimacing, 2 points are given for the activity due to the good muscle tone and 1 point is given for the respiration due to gasping. Total score is 7 points.

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

Lichen sclerosus is a common chronic skin disorder that most often affects genital and perianal areas. LS typically presents with vulval itching and clinical findings of pallor, epidermal atrophy (cigarette paper wrinkling), purpura, and/or erosions.Lichen sclerosus (LS) and lichen planus (LP) are both immunologically mediated diseases with a preference for the genitalia. The main difference between the two conditions is that LP has a propensity to involve the mucous membranes including the mouth and vagina which are rarely affected in LS.

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

Still’s disease is a rare systemic disorder that accounts for 10% of cases of juvenile idiopathic arthritis (JIA). The aetiology is unknown. It affects boys and girls equally up to the age of five years of age, following which, girls are more commonly affected. Clinical features of this disease include:- Fever- Maculopapular rash- Myalgia- Generalised lymphadenopathy- Hepatosplenomegaly- Pericarditis and pleuritis Laboratory investigations reveal raised ESR and CRP. There can also be coexisting neutrophilia and thrombocytosis. Anti-nuclear autoantibodies and rheumatoid factor are usually negative in patients with Still’s disease.On the rare case that they are present, their titres are generally low.

Graves disease is an autoimmune disorder in which patients present with thyrotoxicosis and related ophthalmopathy, and dermopathy. Many affected patients experience hyperthyroidism. Peak incidence of graves disease is after the 3rd decade of life and is more common in women than in men. Graves susceptibility is association with HLA-DR3. Clinical features of Graves disease include an increased metabolic rate, heat intolerance, irritability, weight loss despite increasing appetite, diarrhoea palpitations, chemosis, acropachy and onycholysis.

Absence epilepsy is the most common type of generalized childhood epilepsies. It is mainly idiopathic, but 10-40% of the cases have a positive family history. It is characterized by frequent absence seizures and periods of unconsciousness. The hallmark of absence epilepsy on EEG is the bilaterally synchronous 2–4 Hz spike and wave discharges (SWDs). The average age of onset is around 4-8 years, being more prevalent among girls. Treatment resistance is not common.

The most probable cause for chronic parotitis in this patient would be HIV infection.Rationale:Chronic infectious parotitis is relatively uncommon in children. While mycobacterial infection can result in chronic parotitis, HIV is a relatively more common cause. The presentation should always prompt an HIV test. Other options:- While mumps is the most common cause of acute viral parotitis, the chronic nature of the boy’s presentation rules it out. – Acute bacterial parotitis is usually unilateral and is warm and tender to touch.

Based on the presentation, the child most probably is suffering from a refractive error.Astigmatism, myopia and high hypermetropia could all cause these symptoms. This child has difficulty in using vision for finer tasks such as reading. Mild to moderate refractive error would not impair the child’s ability to play or even watch television as for the child in question. Note: Refractive error is the most common treatable cause of reduced vision in children all over the world! Other options:- A congenital cataract is rare and retinal dystrophy is even rarer. – Amblyopia would suggest poor vision in only one eye, something that might not cause symptoms in this age group. – Parents or teachers would have probably noticed squint if it was present.