Among the options provided, zidovudine causes lipoatrophy as a side effect.Zidovudine: Although both hypertrophy and atrophy are described related to HIV medications, nucleoside reverse transcriptase inhibitor (NRTIs) such as zidovudine and stavudine are closely associated with fat loss.Other options:- Enfuvirtide is an HIV-fusion inhibitor. Lipoatrophy is not commonly associated with this drug.- Efavirenz is an NNRTI, which is not associated with lipoatrophy. Common side effects include neuropsychiatric effects, rash and nausea. – Ganciclovir is not an anti-HIV medication and is used for cytomegalovirus (CMV) infections.- Raltegravir is an integrase inhibitor and is associated with fat gain.

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.

Marfan syndrome is a disorder that affects the connective tissue found throughout the body, Marfan syndrome can affect many systems, often causing abnormalities in the heart, blood vessels, eyes, bones, and joints. The two primary features of Marfan syndrome are vision problems caused by a dislocated lens (ectopia lentis) in one or both eyes and aortic root disease, leading to aneurysmal dilatation, aortic regurgitation and dissection is the main cause of morbidity and mortality in Marfan syndrome.

Most healthy infants and children grow predictably, following a typical pattern of progression in weight, length, and head circumference. Normal human growth is pulsatile| periods of rapid growth (growth spurts) are separated by periods of no measurable growth Growth hormone levels and responsiveness’ develop in late infancy, increase during childhood and peak during puberty.Typical milestones — General guidelines regarding length or height gain during infancy and childhood include the following:- The average length at birth for a term infant is 20 inches (50 cm)- Infants grow 10 inches (25 cm) during the first year of life- Toddlers grow 4 inches (10 cm) between 12 and 24 months, 3 inches (7.5 cm) between 24 and 36 months, and 3 inches (7.5 cm) between 36 and 48 months- Children reach one-half of their adult height by 24 to 30 months- Children grow 2 inches per year (5 cm per year) between age four years and puberty- There is a normal deceleration of height velocity before the pubertal growth spurt.Growth continues past pubertal growth spurt as there is increase in spinal length.

Most cases of Trisomy 18, also called Edwards syndrome, are not inherited but occur as random events during the formation of eggs and sperm. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 18. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra chromosome 18 in each of the body’s cells.Mosaic trisomy 18 is also not inherited. It occurs as a random event during cell division early in embryonic development. As a result, some of the body’s cells have the usual two copies of chromosome 18, and other cells have three copies of this chromosome.Partial trisomy 18 can be inherited. An unaffected person can carry a rearrangement of genetic material between chromosome 18 and another chromosome. This rearrangement is called a balanced translocation because there is no extra material from chromosome 18. Although they do not have signs of trisomy 18, people who carry this type of balanced translocation are at an increased risk of having children with the condition.Canavan disease is a type of leukodystrophy and a degenerative disorder that causes progressive damage to nerve cells in the brain. It is inherited in an autosomal recessive manner.Cystic Fibrosis is the most common lethal recessive disease of white people, with a carrier frequency of 1:25 and is inherited in an autosomal recessive manner.Galactosaemic is autosomal recessive and due to mutations in the GALT gene.Phenylketonuria is the most common inborn error of metabolism in the UK with an incidence of 1:10,000 and a carrier rate of 1:50.

The patient’s clinical presentation is highly suggestive of Charcot–Marie–Tooth syndrome.It is a hereditary sensory and motor neuropathy. It is also the commonest cause of inherited peripheral neuropathy. The lower motor neuron signs are usually mild in childhood, the age of onset is very variable, and the distal weakness can take years to progress. It is not fatal and does not affect the normal life expectancy.

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.

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.

A vasovagal episode or vasovagal syncope is the most common form of reflex syncope. Reflex syncope is a general term used to describe types of syncope resulting from a failure in autoregulation of blood pressure, and ultimately, in cerebral perfusion pressure resulting in transient loss of consciousness. The mechanisms responsible for this are complex and involve both depression of cardiac output as well as a decrease in vascular tone. Other types of reflex syncope include carotid sinus syncope and situational syncope, for instance, cough or micturition syncope. Vasovagal syncope may be triggered by pain or emotional upset, although frequently a specific trigger cannot be identified.

Boys and men with Klinefelter syndrome typically have small testes that produce a reduced amount of testosterone (primary testicular insufficiency). Testosterone is the hormone that directs male sexual development before birth and during puberty. Without treatment, the shortage of testosterone can lead to delayed or incomplete puberty, breast enlargement (gynecomastia), decreased muscle mass, decreased bone density, and a reduced amount of facial and body hair. As a result of the small testes and decreased hormone production, affected males are not generally infertile but may benefit from assisted reproductive technologies. Some affected individuals also have differences in their genitalia, including undescended testes (cryptorchidism), the opening of the urethra on the underside of the penis (hypospadias), or an unusually small penis (micropenis).

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.

After birth, the infant takes its first breath and is exposed to a myriad of stimuli. The pulmonary vessels dilate, and pulmonary vascular resistance (PVR) decreases remarkably while the systemic vascular pressure rises above the PVR. This allows blood from the right ventricle to enter the lungs for oxygenation. In most cases, this increased oxygenation, along with other factors, causes the ductal wall to constrict and the ductus arteriosus to close functionally. As left-sided pressures rise higher than right-sided pressures, the foramen ovale functionally closes. With the clamping of the umbilical cord and the cessation of blood flow, pressures in the portal sinus decrease. This causes the muscle in the sinus wall near the ductus venosus to contract. The lumen of the duct becomes filled with connective tissue, and, in two months, the ductus venosus becomes a fibrous strand embedded in the wall of the liver, thus establishing adult circulation.

A bone age study helps doctors estimate the maturity of a child’s skeletal system. It’s usually done by taking a single X-ray of the left wrist, hand, and fingers. It is a safe and painless procedure that uses a small amount of radiation. The bones on the X-ray image are compared with X-rays images in a standard atlas of bone development, which is based on data from large numbers of other kids of the same gender and age. The bone age is measured in years.

The patient history suggests a spontaneous tension pneumothorax which is a life-threatening situation in which excess air is introduced into the pleural space surrounding the lung. When there is a significant amount of air trapped in the pleural cavity, the increasing pressure from this abnormal air causes the lung to shrink and collapse, leading to respiratory distress. This pressure also pushes the mediastinum (including the heart and great vessels) away from its central position, e.g. deviated trachea, and diminishing the cardiac output. Tension pneumothoraxes cause chest pain, extreme shortness of breath, respiratory failure, hypoxia, tachycardia, and hypotension. These are definitively managed by insertion of a chest tube. However, in the emergency setting temporizing measures are needed while chest tube materials are being gathered. In these situations, urgent needle thoracostomy (also called needle decompression) is performed.

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.

The Chi-squared test would have been a useful test to compare the proportions in the scenario. However, due to the small sample size, Fisher’s exact test can be applied to analyse the significance of the difference. Adequate information is not given to determine what sample sizes were used to test the efficacy of the treatment, and to tell whether the treatment should be discontinued without further analysis on the data.

The percentages of body water contained in various fluid compartments add up to total body water (TBW). This water makes up a significant fraction of the human body, both by weight and by volume. Ensuring the right amount of body water is part of fluid balance, an aspect of homeostasis. The extracellular fluid (ECF) includes all fluids outside the cells. This fluid can be divided into three fluid departments: interstitial (in the tissue spaces) fluid, blood plasma and lymph, and specialised compartments called transcellular fluid. The extracellular fluid surrounds all the cells in the body and is in equilibrium with the intracellular fluid. So, its composition must remain fairly constant even though substances are passing into and out of the cells. The interstitial fluid, though called a fluid, is in a reality a gel-like composition made up of: water, proteoglycan molecules and collagen. The extracellular fluid constitutes 40% of total body water, with intracellular fluid making up the remaining 60%. It is relatively rich in glucose.

The property described in the question is heterogeneity.Heterogeneity is when a single phenotype or genetic disorder can be caused by multiple numbers of genetic mutations.Other options:- Pleiotropy occurs when a single gene influences multiple phenotypic traits. The underlying mechanism is that the gene codes for a product that is used by various cells. A classic example of pleiotropy is the human disease PKU (phenylketonuria).- The penetrance of a disease-causing mutation is the proportion of individuals with the mutation who exhibit clinical symptoms. For example, the gene responsible for a particular autosomal dominant disorder has 70% penetrance, then 70% of those with the mutation will develop the disease, while 30% will not.

The most appropriate next step in the management would be to refer the patient for an ENT opinion. Rationale:This child has clinical signs of adenotonsillar hypertrophy, symptoms of persistent snoring and features of obstructive sleep apnoea (OSA). Suspected OSA warrants referral to an ENT specialist. Other options:- Capillary blood gas: The investigation consists of overnight oxygen saturation monitoring or polysomnography.- Chest X-ray: A chest x-ray is not indicated.- Phenoxymethylpenicillin (Penicillin V) is the first-line treatment for tonsillitis. However, with a history of several months and no suggestion of fever or sore throat, acute tonsillitis is unlikely.- Weight loss advice: Obesity is a risk factor for obstructive sleep apnoea (OSA) amongst other health problems. The child’s weight should be highlighted and advice and support for weight loss provided however referral to ENT is warranted for further investigation.

Koebner’s phenomenon describes skin lesions that occur on damaged skin, usually in a linear fashion at the site of injury. Conditions which exhibit true Koebnerisation include psoriasis, lichen planus, lichen sclerosis, vitiligo, Kaposi sarcoma and SLE. Conditions such as erythema nodosum or multiforme, or Lyme disease and Impetigo do not exhibit Koebner’s phenomenon.

Epiglottitis is characterized by the abrupt onset of severe symptoms. Without airway control and medical management, symptoms may rapidly progress to respiratory obstruction and death in a matter of hours.Usually, no prodromal symptoms occur in children. Fever is usually the first symptom, and temperatures often reach 40°C. Acute epiglottitis may result in sudden, complete upper airway obstruction. Classic signs in children are four D’s: drooling, dyspnoea, dysphagia, and dysphonia.

Bone age is used to determine the maturation of a child’s bones’ and is used to detect pathological growth. This is done using the X-ray of the wrist. Several conditions can either advance or delay the bone age such that they may not match the child’s chronological age. Bone age is advanced in conditions where there are prolonged or elevated sex hormone levels such as precocious puberty, or in genetic overgrowth conditions such as Beckwith-Wiedemann syndrome. Bone age is delayed in constitutional growth delay, chronic ill health, endocrine disorders such as growth hormone deficiencies or hypothyroidism, genetic disorders such as Trisomy 21, Trisomy 18, and Turner’s syndrome. Obesity is unlikely to cause growth delay.

The most probable diagnosis for the clinical scenario provided is coarctation of the aorta. It contributes to about 4% of all congenital heart disease and is more prominent in males than females.It is associated with trisomy 13 and 18, Turner syndrome, valproate toxicity as well as ventricular septal defects, persistent ductus arteriosus, mitral valve abnormalities and berry aneurysms of the circle of Willis. Other associated cardiac abnormalities include a bicuspid aortic valve (50%), mitral valve disease, aortic regurgitation (20%) and subaortic stenosis. Ninety-eight per cent of coarctations occur at the level of the pulmonary artery after the subclavian artery. It is for this reason that, on observation, the proximal blood pressure varies compared with the distal blood pressure. The blood pressure in the right arm is often higher than that in the left arm. Clinically, these children present with hypertension, prominent carotid pulses, radio-femoral delay, left ventricular hypertrophy and an ejection systolic murmur maximum over the posterior left interscapular area. An apical click over the aortic valve may be heard. Coarctation of the aorta may be simple (post-ductal), or complex (pre-ductal or with a septal defect), and may be associated with aortic stenosis, transposition of the great arteries or a bicuspid aortic valve. The ECG and chest radiograph may be normal. However, as the child enters the first decade, evidence of cardiomegaly, congestive heart failure, post-stenotic dilatation with a dilated subclavian artery and rib notching may be noticed. The ECG may show right ventricular hypertrophy, left ventricular hypertrophy in infancy and right axis deviation. Complications of coarctation of the aorta include left ventricular failure, cerebral haemorrhage, aortic dissection, renal vascular stenosis and infective endocarditis. This condition may result in death due to an aortic aneurysm or rupture in the third or fourth decade of life. It may also cause premature ischaemic heart disease as a result of hypertension. If left untreated, 20% of individuals die before 20 years of age and 80% before 50 years of age. Treatment options include surgical balloon dilatation or the grafting of a subclavian flap, and should surgical correction not normalise the blood pressure, further medical management is required.

The given presentation is highly suggestive of withdrawal effect of ketamine.Ketamine is known for its unique property of inducing dissociative anaesthesia. Emergence phenomenon (as seen in the child in question) is an adverse effect that occurs during recovery from dissociative anaesthesia. The components of emergence phenomenon include a euphoric state associated with hallucinations.

Intussusception causes abdominal pain leading to painful lower GI bleeding. Intussusception is a condition in which part of the intestine folds into the section next to it. It most commonly involves the small bowel and rarely the large bowel. Intussusception doesn’t usually require surgical correction. 80% of cases can be both confirmed and reduced using barium, water-soluble or air-contrast enema.However, up to 10% of cases can experience recurrence within 24 hours after reduction, warranting close monitoring during this period.Most children have self-limiting and minor bleeds. However, children with massive bleeds will need emergency care and stabilisation.The various causes of lower GI bleeding in neonates include:- Anal fissures- Milk protein or soy allergy- Intussusception- Volvulus- Coagulopathies including haemorrhagic disease of the new-born- Arteriovenous malformations- Necrotising enterocolitis- Hirschsprung enterocolitis- Meckel’s diverticulitis- Drugs (NSAIDs, heparin, indomethacin used for patent duct closure, dexamethasone)The various causes of lower GI bleeding in children aged between 1 month to 2 years include:- Infection- Anal fissures- Intussusception- Malrotation with volvulus- Milk protein or soy allergy- Polyp- Meckel’s diverticulum- Duplication cyst- Foreign body- AV malformation- Colitis of immune deficiency- Tumour- HaematomaThe causes of lower GI bleeding in children older than 2 years include:- Polyp- Inflammatory bowel disease (IBD)- Infectious diarrhoea (caused by Escherichia coli and Shigella)- Intussusception- Haemangiomas- Arteriovenous malformations- Vasculitis- Tumour

This is a case of an anaphylactic reaction that requires immediate intervention. IM adrenaline dose for 6-12 year old children is 300 micrograms IM.

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

Wolff-Parkinson-White (WPW) syndrome is a pre-excitation syndrome characterised by re-entry tachycardia that most commonly presents as a recurrent supraventricular tachycardia. ECG will show a short PR interval and a prolonged QRS complex.

The trigeminal nerve is responsible for the sensory innervation of the head, and the muscles of mastication. The nerve is divided into three branches, the ophthalmic nerve (V1) the mandibular nerve (V2) and the maxillary nerve (V3) which all exit the skull through their respective foramina. An easy way to remember these foramina is with the following mnemonic:Standing Room Only, for V1-V3 respectivelyV1- Superior orbital FissureV2- foramen RotundumV3 foramen Ovale

ABC : Airway, breathing, circulation is the order of assessment in any patient that is unconscious and apnoeic.