Febrile seizures are convulsions that can happen when a child, most often between the ages of six months and three years, has a fever. They usually last for less than five minutes and although the child may lose consciousness, they are relatively harmless. However, sometimes they can last for up to 15 minutes and when they are termed complex febrile seizures.

Diazepam given rectally may be helpful in treating prolonged convulsions outside and within hospital when intravenous injection is not possible. A rectal dose of 0.5 mg/kg (maximum 10 mg) of injectable diazepam, undiluted or diluted with a 50% propylene glycol solution, can stop seizures in up to 80% of children. There are few adverse reactions. Seizures in children usually cease spontaneously within 5-10 minutes and are rarely associated with significant sequelae. The chance of a seizure stopping spontaneously decreases significantly after 10-15 minutes. Similarly, the efficacy of anticonvulsant medication decreases after 10-15 minutes of fitting and the risk of adverse effects increases. Convulsive seizures lasting longer than 30 minutes constitute status epilepticus and may be complicated by cardio respiratory depression and brain injury. Diazepam or clonazepam, given intravenously, is generally the drug of choice for the emergency treatment of convulsive status epilepticus. Intravenous diazepam may be difficult to administer to the young convulsing child and, because of the need for intravenous access, is not ideal for rapid treatment in the community by non-medical carers.

Classic Kallmann syndrome (KS) is due to isolated hypogonadotropic hypogonadism. Most patients have gonadotropin-releasing hormone (GnRH) deficiency, as suggested by their response to pulsatile GnRH therapy. The hypothalamic-pituitary function is otherwise normal in most patients, and hypothalamic-pituitary imaging reveals no space-occupying lesions. By definition, either anosmia or severe hyposmia is present in patients with Kallmann syndrome.

In the prenatal heart, right-to-left atrial shunting of blood through the foramen ovale is essential for proper circulation. After birth, as the pulmonary circulation is established, the foramen ovale functionally closes as a result of changes in the relative pressure of the two atrial chambers, ensuring the separation of oxygen-depleted venous blood in the right atrium from the oxygenated blood entering the left atrium.

The child has a history of pharyngitis followed 10 days later by signs of glomerulonephritis. In this particular case, it is most probably a post-streptococcus glomerulonephritis which accounts for 80% of paediatric cases of glomerulonephritis.

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.

6 month old babies that go through normal developmental milestones, should enjoy playing with others and especially their parents.The other milestones are expected of a 9-month-old.

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.

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.

The patient has features of type 1 diabetes mellitus, a disease of autoimmune aetiology. This also puts the patient at risk of developing other autoimmune disorders like Addison’s disease, Grave’s disease, and coeliac disease.All of the other options are non-autoimmune disorders.Diabetes mellitus is an increasing problem in both developing and developed countries alike.Some of the risk factors include:ObesityFamily historyFemale sex Asian and African racesPresence of acanthosis nigricans is seen with type 2 but not type 1 diabetesThe diagnosis is mostly incidental or subacute.The treatment aims are good blood sugar control, maintenance of normal BMI, and reduction of complications. The treatment modality also includes lifestyle modifications and cessation of smoking.Even after all this, diabetic ketoacidosis can still occur.Management of diabetes mellitus – NICE guidelines (Updated, 2015): – Standard release metformin should be offered from the moment of diagnosis.- HBA1c should be measured every three months. The target HBA1c level of 48 mmol/mol (6.5%) or lower is ideal for minimising the risk of long term complications.- Children should undergo an eye examination by an optician every two years.- Annual immunisation against influenza and pneumococcal infections are essential.- There is an increased risk of psychological and psychosocial difficulties if the child with type 1 diabetes is on insulin or oral hypoglycaemic medications. These include anxiety disorder, depression, behavioural and conduct disorders and family conflict.- Annual monitoring to be done for:Hypertension starting at diagnosis.Dyslipidaemia starting at diagnosis.Screening for microalbuminuria starting at diagnosis.Diabetic retinopathy from 12 years of age.

Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females.Affected individuals usually have delayed development of speech and language by age 2. Most males with fragile X syndrome have mild to moderate intellectual disability, while about one-third of affected females are intellectually disabled. Children with fragile X syndrome may also have anxiety and hyperactive behaviour such as fidgeting or impulsive actions. They may have attention deficit disorder (ADD), which includes an impaired ability to maintain attention and difficulty focusing on specific tasks. About one-third of individuals with fragile X syndrome have features of autism spectrum disorder that affect communication and social interaction. Seizures occur in about 15 percent of males and about 5 percent of females with fragile X syndrome.Most males and about half of females with fragile X syndrome have characteristic physical features that become more apparent with age. These features include a long and narrow face, large ears, a prominent jaw and forehead, unusually flexible fingers, flat feet, and in males, enlarged testicles (macroorchidism) after puberty.

The most probable diagnosis based on the clinical presentation is myocarditis secondary to Coxsackie virus infection.Myocarditis is an important cause of acquired heart failure. The other infective causes of myocarditis are influenza and adenoviruses, and bacterial causes as seen with Borrelia burgdorferi (Lyme disease). Rheumatic fever is unlikely if the ASO titres are within normal limits. While pancarditis may occur as part of Kawasaki disease| the patient is unlikely to present in failure.

The rational part of a teen’s brain isn’t fully developed until the age of 25 or so.In fact, recent research has found that adult and teen brains work differently. Adults think with the prefrontal cortex, the brain’s rational part. This is the part of the brain that responds to situations with good judgment and an awareness of long-term consequences. Teens process information with the amygdala. This is the emotional part.

The withdrawal and withholding of care has been reported in neonatology for over 30 years. ‘Withdrawal’ of life-saving treatment implies the elective discontinuation of ongoing life-supportive measures. ‘Withholding’ of treatment occurs when interventions necessary for immediate survival, such as surgical intervention or resuscitation (bag and mask/endotracheal ventilation, cardiac massage or adrenaline) are deliberately not administered.Withdrawal of treatment most commonly takes the form of withdrawing of ventilatory support. In the extremely premature neonate who has had poor response to bag and mask ventilation, this may mean stopping ventilation breaths, explaining to the parents the reason for discontinuation and offering comfort care according to the parents’ wishes. Parents should be prepared for the sequelae that may follow withdrawal from mechanical ventilation. The infant may become agitated secondary to hypoxia, display terminal gasping and, depending on the size and gestation of their infant, tachypnoea, intercostal recession or stridor may be evident. Parents may want to be involved in the extubation process. Following ventilator withdrawal, the length of time prior to death cannot be predicted and can be a significant cause of parental anguish if this is not explained. A side room and privacy should be made available for the family. NICE guidance suggests that women ‘should not be encouraged to hold their dead baby if they do not wish to’, although this is very much dependent on individuals.

Bilirubin encephalopathy (BE), also known as kernicterus is a preventable complication of neonatal jaundice. Bilirubin deposits in the basal ganglia, hippocampus, geniculate bodies and cranial nerve nuclei, exerting direct neurotoxic effects and causing mass-destruction of neurons by apoptosis and necrosis.The clinical features of this diagnosis have been well described and can be divided into 3 stages:Phase 1 (first few days of life): Decreased alertness, hypotonia, and poor feeding are the typical signs. Obviously, these are quite nonspecific and could easily be indicative of a multitude of neonatal abnormalities. A high index of suspicion of possible BIND at this stage that leads to prompt intervention can halt the progression of the illness, significantly minimizing long-term sequelae. Of note, a seizure is not typically associated with acute bilirubin encephalopathy.Phase 2 (variable onset and duration): Hypertonia of the extensor muscles is a typical sign. Patients present clinically with retrocollis (backward arching of the neck), opisthotonos (backward arching of the back), or both. Infants who progress to this phase develop long-term neurologic deficits. Phase 3 (infants aged >1 wk): Hypotonia is a typical sign.

Narcolepsy is a rare condition characterised by excessive daytime sleepiness, sleep paralysis, hypnagogic hallucinations, and cataplexy (sudden collapse triggered by emotion such as laughing or crying). There is no cure for narcolepsy. Treatment options include stimulants, such as methylphenidate (Ritalin) or modafinil (Provigil), antidepressants, such as fluoxetine (Prozac), citalopram (Celexa), paroxetine (Paxil), sertraline (Zoloft) and sodium oxybate (Xyrem). Modafinil has replaced methylphenidate and amphetamine as the first-line treatment of excessive daytime sleepiness (EDS).

The thyroglossal duct cyst is the most common congenital anomaly of the central portion of the neck. The thyroglossal duct cyst is intimately related to the central portion of the hyoid bone and usually elevates along with the larynx during swallowing. Thyroglossal cysts can be defined as an irregular neck mass or a lump which develops from cells and tissues left over after the formation of the thyroid gland during the developmental stages.

The ductus arteriosus is normally patent during fetal life| it is an important structure in fetal development as it contributes to the flow of blood to the rest of the fetal organs and structure. From the 6th week of fetal life onwards, the ductus is responsible for most of the right ventricular outflow, and it contributes to 60% of the total cardiac output throughout fetal life. Only about 5-10% of its outflow passes through the lungs.This patency is promoted by continual production of prostaglandin E2 (PGE2) by the ductus.In the foetus, the oxygen tension is relatively low, because the pulmonary system is non-functional. Coupled with high levels of circulating prostaglandins, this acts to keep the ductus open. The high levels of prostaglandins result from the little amount of pulmonary circulation and the high levels of production in the placenta.At birth, the placenta is removed, eliminating a major source of prostaglandin production, and the lungs expand, activating the organ in which most prostaglandins are metabolized. In addition, with the onset of normal respiration, oxygen tension in the blood markedly increases. Pulmonary vascular resistance decreases with this activity.Normally, functional closure of the ductus arteriosus occurs by about 15 hours of life in healthy infants born at term. This occurs by abrupt contraction of the muscular wall of the ductus arteriosus, which is associated with increases in the partial pressure of oxygen (PO2) coincident with the first breath. A preferential shift of blood flow occurs| the blood moves away from the ductus and directly from the right ventricle into the lungs. Until functional closure is complete and PVR is lower than SVR, some residual left-to-right flow occurs from the aorta through the ductus and into the pulmonary arteriesA balance of factors that cause relaxation and contraction determine the vascular tone of the ductus. Major factors causing relaxation are the high prostaglandin levels, hypoxemia, and nitric oxide production in the ductus. Factors resulting in contraction include decreased prostaglandin levels, increased PO2, increased endothelin-1, norepinephrine, acetylcholine, bradykinin, and decreased PGE receptors. Increased prostaglandin sensitivity, in conjunction with pulmonary immaturity leading to hypoxia, contributes to the increased frequency of patent ductus arteriosus (PDA) in premature neonates.Although functional closure usually occurs in the first few hours of life, true anatomic closure, in which the ductus loses the ability to reopen, may take several weeks. The second stage of closure related to the fibrous proliferation of the intima is complete in 2-3 weeks.

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.

Observational studies fall under the category of analytic study designs and are further sub-classified as observational or experimental study designs. The goal of analytic studies is to identify and evaluate causes or risk factors of diseases or health-related events. The differentiating characteristic between observational and experimental study designs is that in the latter, the presence or absence of undergoing an intervention defines the groups. By contrast, in an observational study, the investigator does not intervene and rather simply “observes” and assesses the strength of the relationship between an exposure and disease variable.Three types of observational studies include cohort studies, case-control studies, and cross-sectional studies. Case-control and cohort studies offer specific advantages by measuring disease occurrence and its association with an exposure by offering a temporal dimension (i.e. prospective or retrospective study design). Cross-sectional studies, also known as prevalence studies, examine the data on disease and exposure at one particular time point. Because the temporal relationship between disease occurrence and exposure cannot be established, cross-sectional studies cannot assess the cause and effect relationshipDisadvantage of Cohort study is Susceptible to selection bias.

Topical benzoyl peroxide is used for the treatment of mild to moderate acne vulgaris. It is actually a peeling agent and it clears the pores and reduces the bacterial cell count.

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.

Juvenile myoclonic epilepsy is an epilepsy syndrome characterized by myoclonic jerks, generalized tonic-clonic seizures (GTCSs), and sometimes, absence seizures. The seizures of juvenile myoclonic epilepsy often occur when people first awaken in the morning. Seizures can be triggered by lack of sleep, extreme fatigue, stress, or alcohol consumption. Onset typically occurs around adolescence in otherwise healthy children. The causes of juvenile myoclonic epilepsy are very complex and not completely understood. Mutations in one of several genes, including the GABRA1 and the EFHC1 genes, can cause or increase susceptibility to this condition. Although patients usually require lifelong treatment with anticonvulsants, their overall prognosis is generally good.

Lesions caused by herpes simplex virus may appear in various clinical stages. They are usually the result of an HSV-1 infection and they may appear on the face and neck. They start as fluid-filled blisters which eventually erupt into small painful ulcers.

ADH primarily acts on the collecting ducts.Other options:- The juxtaglomerular apparatus is the site of renin production.- The proximal tubule conducts isosmotic reabsorption of about 60% of sodium chloride and volume. Most of the glucose, amino acids, potassium and phosphate are absorbed here.- The loop of Henle is the site of 25% of sodium reabsorption. Active Chloride transport provides the basis for the counter current multiplier aiding urinary concentration.- The distal convoluted tubule is impermeable to water and acts via active sodium chloride absorption to dilute urine.

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.

In this case, the affected individuals are all heterozygotes. Therefore, the mutation is autosomal dominant. Also, the mother does not carry the mutation, further confirming the autosomal dominant nature of the disease, which is most probably achondroplasia.

The Chi squared test is used to find the relationship between two variables, determining whether they are not independent of each other. This test of statistical significance allows you to determine the degree of confidence with which you can accept or reject the null hypothesis. The student t test compares the significant differences in data means, while rank correlation, linear regression and the correlation coefficient all help to measure the linear relationship between variables.

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.

Infection of chickenpox in the first half of pregnancy can result in congenital varicella syndrome. It presents as cerebral, cortical and cerebellar hypoplasia with convulsions and rudimentary digits. Prevention is by administering varicella vaccine, even before pregnancy. Varicella immunoglobulin is administered to pregnant women who are exposed to infection. Infection during pregnancy is treated with acyclovir.