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.

Scurvy is a condition caused by a dietary deficiency of vitamin C, also known as ascorbic acid. Humans are unable to synthesize vitamin C, therefore the quantity of it that the body needs has to come from the diet. The presence of an adequate quantity of vitamin C is required for normal collagen synthesis. In scurvy bleeding tendency is due to capillary fragility and not coagulation defects, therefore blood tests are normal.

Congenital heart defects are common (40-50%); they are frequently observed in patients with Down syndrome who are hospitalized (62%) and are a common cause of death in this aneuploidy in the first 2 years of life.The most common congenital heart defects are the following:- Endocardial cushion defect (43%), which results in atrioventricular septal defect (AVSD)/AV canal defect- Ventricular septal defect (32%)- Secundum atrial septal defect (10%)- Tetralogy of Fallot (6%)- Isolated patent ductus arteriosus (4%).About 30% of patients have more than one cardiac defect. The most common secondary lesions are patent ductus arteriosus (16%), atrial septal defect, and pulmonic stenosis (9%). About 70% of all endocardial cushion defects are associated with Down syndrome.Valve abnormalities, such as mitral valve prolapse or aortic regurgitation may develop in up to 40-50% of adolescents and adults who were born without structural heart disease.

Among the options provided, a 1-year-old child will be able to understand object permanence e.g. understands that objects continue to exist even when they can’t be seen, e.g. looking for a fallen toy.At the age of 1 year, children should have developed an accurate pincer grip and be able to see and co-ordinate and manipulate fairly small objects such as a raisin.Gross motor development varies, but the average 1-year-old should be able to stand and cruise around furniture or walk with their hands held but not necessarily walk unaided.Drinking from a cup will become established at around 15 months and scribbling at 18 months.

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.

The perinatal mortality rate is defined as the number of perinatal deaths per 1000 total births. Perinatal death includes the death of a live-born neonate within 7-days of life (early neonatal death) and the death of a fetus ≥ 22 weeks of gestation (stillbirth). Hence, the perinatal mortality rate is calculated by dividing the number of still births+ the number of early neonatal deaths by 1000 births.

Based on the clinical presentation, the pubic hair development is in Tanner stage 2.The Tanner stages for pubic hair are as follows:Stage 1 -pre-adolescentStage 2 -sparse hair that is long, slightly pigmented and downyStage 3 -hair spread over the junction of the pubes, darker and coarserStage 4 -adult-type hair, but the area covered is smaller than it is in an adult.Stage 5 -adult in quantity and type

Answer: Beta 2 transferrin assayBeta-2-transferrin is a protein found only in CSF and perilymph. Since 1979, beta-2-transferrin has been used extensively by otolaryngologists in the diagnosis of CSF rhinorrhoea and skull-base cerebrospinal fluid fistulas. With sensitivity of 94% – 100%, and specificity of 98% – 100%, this assay has become the gold standard in detection of CSF leakage. CSF rhinorrhoea is characterized by clear or xanthochromic watery rhinorrhoea that may not become apparent until nasal packing is removed.

Most cases of Prader-Willi syndrome are not inherited, particularly those caused by a deletion in the paternal chromosome 15 or by maternal uniparental disomy. These genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development. Affected people typically have no history of the disorder in their family.Rarely, a genetic change responsible for Prader-Willi syndrome can be inherited. For example, it is possible for a genetic change that abnormally inactivates genes on the paternal chromosome 15 to be passed from one generation to the next.Prader-Willi syndrome is a complex genetic condition that affects many parts of the body. In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating (hyperphagia) and obesity. Some people with Prader-Willi syndrome, particularly those with obesity, also develop type 2 diabetes (the most common form of diabetes).

Diabetes insipidus (DI) is defined as the passage of large volumes (>3 L/24 hr) of dilute urine (< 300 mOsm/kg). It has the following 2 major forms:Central (neurogenic, pituitary, or neurohypophyseal) DI, characterized by decreased secretion of antidiuretic hormone (ADH; also referred to as arginine vasopressin [AVP])Nephrogenic DI, characterized by decreased ability to concentrate urine because of resistance to ADH action in the kidney.The boy most probably has nephrogenic diabetes insidious (DI) not central DI so he is not responding to the ADH treatment.

Histology of psoriasis is characterised by parakeratosis (cell nuclei within stratum corneum) and thickened projections of the prickle cell layer of keratinocytes (psoriasiform hyperplasia or acanthosis). Orthokeratosis refers to the formation of a pathological anuclear keratin layer in the skin.The stratum granulosum is actually thinned or absent in patients with psoriasis.

Minimal change nephrotic syndrome leads to the loss of anti-thrombin III which protects the body from forming venous emboli. It may be triggered by virus, immunisations, medication, non-Hodgkin lymphoma, or leukaemiaCharacterised by oedema, proteinuria, hypoalbuminemia, and hypercholesterolemia.

Most experts suggest that parents reassurance in case of infantile gastro-oesophageal reflux (GOR) is a sufficient initial measure that involves education about regurgitation and lifestyle changes.

The study described in the question is a ‘cohort’ study.Other options:A prospective observational study – When groups are classified according to one or more factors at a given time and followed forward to determine outcomes (usually some health status)- Although there is in one sense a control group (those who do not develop the health problem), this is not generally called a ‘controlled’ trial. – An ecological study would look at outcomes in different groups (countries or regions usually) who follow different practices.

Management of acute otitis media should begin with adequate analgesia. Antibiotic therapy can be deferred in children two years or older with mild symptoms. Antibiotics should be prescribed immediately if:- Symptoms lasting more than 4 days or not improving- Systemically unwell but not requiring admission- Immunocompromise or high risk of complications secondary to significant heart, lung, kidney, liver, or neuromuscular disease- Younger than 2 years with bilateral otitis media- Otitis media with perforation and/or discharge in the canaHigh-dose amoxicillin (80 to 90 mg per kg per day) is the antibiotic of choice for treating acute otitis media in patients who are not allergic to penicillin, otherwise erythromycin or clarithromycin should be given.

Fine motor development involves greater use of the hands to perform more precise tasks. By 6 -12 months children should be able to reach for small objects and pass an object from one hand to the other. From 1 -2 years they can perform more complex tasks such a building a tower of blocks, feeding themselves, and turning knobs. In terms of pencil skills, they should be able to imitate scribbles and then spontaneously scribble. By the age of 2 years they can draw a line, and by three they can draw a circle. From the age of 3.5 they can draw a cross, 4.5 – a square, 5 – a triangle, and 6 a diamond.

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. Foetal hydrops, developmental dysplasia of the hip and, macrosomia lead to polyhydramnios. Cleft palate is not associated with any of them.

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

The physical features and developmental delay are the key aspects in the given scenario. The child in question shows features of gross motor and social developmental delay and has physical features indicative of Prader-Willi syndrome (hypopigmentation, esotropia, disproportionately small hands and feet, loss of central muscle tone and undescended testes). Children with Prader-Willi syndrome can present with failure to thrive until ,12-18 months, at which point, hyperphagia and obesity become more prominent. Other options:- Although Klinefelter syndrome can present with delayed development, undescended/small testes and reduced muscle power, the presence of small hands/feet, hypopigmentation and failure to thrive are not characteristic features. – Marfan syndrome presents with different physical features (arachnodactyly, cardio-respiratory complications and skin changes, amongst others) than those associated with Prader-Willi syndrome. – DiGeorge can manifest with developmental delay, hypotonia and feeding difficulties. However, this clinical scenario does not report any of the typical facial features, hearing abnormalities or cardiac abnormalities that are typically caused by DiGeorge syndrome. – Russell-Silver syndrome can cause developmental abnormalities, poor muscle tone and power (poor head control and muscle function), feeding difficulties and poor growth during the post-natal period and infancy. However, characteristic facial (small, triangular face, blue sclerae) and skeletal abnormalities (limb asymmetry, finger abnormalities) are not present. Therefore, Prader-Willi syndrome is the most appropriate diagnosis for this patient.Note:Prader-Willi syndrome is an example of genetic imprinting where the phenotype depends on whether the deletion occurs on a gene inherited from the mother or father: In Prader-Willi syndrome, it is the paternal gene that is deleted from the long arm of chromosome 15, while in Angelman syndrome the maternal gene is deleted. Prader-Willi syndrome can occur due to the microdeletion of paternal 15q11-13 (70% of cases) maternal uniparental disomy of chromosome 15.

Oligohydramnios is a deficiency in the amniotic fluid volume, measured via ultrasound. Maternal factors associated with oligohydramnios include conditions where there is placental insufficiency such as chronic hypertension, preeclampsia or a thrombotic disorder, post-term pregnancy, premature rupture of membranes, certain chromosomal abnormalities, and obstructions of the foetal urinary tract. On the other hand conditions that are associated with polyhydramnios (excess amniotic fluid) include maternal diabetes, multiple gestations, Rh incompatibility and pulmonary abnormalities.

Rhabdomyosarcoma originates from skeletal muscle cells. A biopsy is needed for grading according to microscopy. Most patients are adult females.

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 correct answer is triple X syndrome with a genotype of XXX and an almost normal female phenotype. The extra X chromosome is inactive. The final phenotype of an individual is determined after normal sexual and gonadal differentiation, a process that involves several genes located on chromosomes X and Y. Disorders of sexual differentiation result in cases of ambiguous genitalia and are caused by a number of genetic abnormalities. Among these disorders is the turner syndrome with a genotype of 45X0, characterized by gonadal dysgenesis and ovarian failure. DAX-1 gene mutation leads to congenital adrenal hypoplasia and hypogonadotropic hypogonadism, which results in virilization of female external genitalia. Campomelic dysplasia results from mutation of the SOX-9 gene, leading to 46XY sex reversal. Danys-Drash syndrome is characterized by disordered sexual development in affected males due to the mutated WT-1 gene, which also causes Wilm’s tumour.

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.

Answer: Oculogyric crisisOculogyric crisis is an acute dystonic reaction of the ocular muscles characterized by bilateral dystonic elevation of visual gaze lasting from seconds to hours. This reaction is most commonly explained as an adverse reaction to drugs such as antiemetics, antipsychotics, antidepressants, antiepileptics, and antimalarials. Metoclopramide is a benzamide selective dopamine D2 receptor antagonist that is used as an antiemetic, with side effects that are seen frequently in children.1 The most common and most important side effects of metoclopramide are acute extrapyramidal symptoms, which require immediate treatment. Acute dystonic reactions occur as contractions of the muscles, opisthotonos, torticollis, dysarthria, trismus, and oculogyric crisis.

From the options mentioned here, the closest diagnosis is haemophilia. This is a mixed picture, as a purpuric rash on the buttocks does not correlate with this diagnosis. However, the most appropriate diagnosis is haemophilia.

Pale stools suggest obstructive jaundice. Initially, the symptoms of biliary atresia are indistinguishable from those of neonatal jaundice, a usually harmless condition commonly seen in infants. However, infants with biliary atresia develop progressive conjugated jaundice, pale white stools and dark urine.

Among the options provided, the most characteristic finding that can be expected in his patient’s urine microscopy is RBC casts. Red cell casts are a characteristic feature of acute nephrotic syndrome. Other options:- Hyaline casts may be seen in normal urine, particularly after exercise. – Coarse granular casts occur in glomerular and tubular disease. – Tubular cell casts may be seen in patients with acute tubular necrosis. – The presence of 10 or more white blood cells/mm3 is abnormal and indicates an inflammatory reaction, most commonly due to infection.

Pubic lice are commonly referred to as ‘crabs’ because of their short, broad body (about 1 mm), and large front claws. Pubic lice infestation is diagnosed by finding a crabť louse or eggs on hair in the pubic region or, less commonly, elsewhere on the body (eyebrows, eyelashes, beard, moustache, armpit, perianal area, groin, trunk, scalp). Although pubic lice and nits can be large enough to be seen with the naked eye, a magnifying lens may be necessary to find lice or eggs.Pubic lice are transmitted from person to person most-commonly via sexual contact, although fomites (bedding, clothing) may play a minor role in their transmission.

Cytomegalovirus (CMV) is the most frequent cause of congenital infection worldwide, with an estimated incidence in developed countries of 0.6-0.7% of all live births.The clinical spectrum of congenital CMV infection varies widely, from the complete absence of signs of infection (asymptomatic infection) to potentially life-threatening disseminated disease. At birth, 85-90% of infected infants are asymptomatic, and 10-15% present with clinical apparent infection (symptomatic disease).The presentation in this latter group is a continuum of disease expression whose more common findings are petechiae, jaundice, hepatomegaly, splenomegaly, microcephaly, and other neurologic signs.

Diagnostic criteria of PCOsAccording to the American Association of Clinical Endocrinologists, at least two of three of the criteria below are required for diagnosis of PCOS after excluding other causes of irregular bleeding and elevated androgen levels.Hyperandrogenism (clinical or laboratory)Oligo- and/or anovulationPolycystic ovaries on ultrasoundDiagnosis of PCOS is possible without the presence of ovarian cysts.Rule out any other causes of hyperandrogenism and anovulation.Blood hormone levels:Testosterone (both total and free) or free androgen indexLH (LH:FSH ratio > 2:1)Oestrogen is normal or slightly elevated A clinical picture of hyperandrogenism overrules any normal hormone levels and can fulfil a diagnostic criterium of PCOS.

Immunoglobulin G (IgG) glomerular immune deposits are seen more commonly in HSP compared to IgA nephropathy.The presentation of the child is highly suggestive of Henoch-Schonlein purpura (HSP). It is an IgA-mediated, autoimmune hypersensitivity vasculitis that targets the small vessels of the skin, GI tract, kidneys, and joints.It is most commonly seen in children aged 3 – 6years and is twice as common in boys than girls. Preceding viral URTI with low-grade pyrexia is common. The most common organism associated with HSP is, however, Group A streptococcal infection A.A purpuric rash is seen on the back of the legs and buttocks and can less frequently, affect the arms. Arthralgia is common (usually knees/ankles) in these patients. Abdominal pain and bloody diarrhoea may occur. And half of the children with HSP have renal involvement. Rarely, it can lead to end-stage renal failure.Treatment includes adequate hydration, occasionally steroids, and other immunosuppressants. The disease can recur in 1 in 3 children.

The main aim of randomisation in a clinical trial is to remove the bias and avoid any potential confounding variables. While in double blind studies both the investigators and the patients are not aware of which group they belong in, being blind is not essential in carrying out a randomized study, nor is it essential that the randomisation be done away from the study centre. A placebo also does not facilitate randomisation, which can be done in single centre and multi-centre trials.

In this case there is evidence of disseminated intravascular coagulation (DIC) caused by severe birth asphyxia. The baby was born weighing 4,9 kg which is a large size for a new-born and thus a difficult delivery with potential birth asphyxia.

The most probable lesion in the patient is a dermoid cyst.Rationale:Dermoid cysts are embryological remnants and may be lined by hair and squamous epithelium (like teratomas). They are often located in the midline and may be linked to deeper structures resulting in a dumbbell shape to the lesion. Complete excision is required as they have a propensity to local recurrence if not excised.Note:Desmoid tumours are a different entity entirely. These lesions most commonly develop in ligaments and tendons. They are also referred to as aggressive fibromatosis and consist of dense fibroblastic lesions (resembling scar tissue). They should be managed in a similar manner to soft tissue sarcomas.

Based on the clinical scenario, the boy is going through normal pubertal changes.In the 3 years before puberty, low pulsatile LH levels become detectable during sleep. LH and FSH are produced in the anterior pituitary and released due to pulsatile gonadotrophin-releasing hormone (GnRH) secreted by the hypothalamus. There is an increase in the amplitude and frequency of LH secretion as puberty approaches, which causes enlargement of the gonads. In boys, the testicles produce testosterone, and in girls, the ovaries produce oestradiol and ovarian androgens, which, with the adrenal androgens, produce secondary sexual characteristics.Note:The average age at onset of puberty is 11 years in girls. The first sign is breast bud development, followed by the appearance of pubic hair 6-12 months later. Menarche usually occurs 2-2.5 years after breast bud development. Peak height velocity in girls occurs at breast stage 2-3 and virtually always precedes menarche. The onset of puberty in boys is at 11.5 years. The first sign is testicular enlargement (>3 ml) and thinning of the scrotum. This is followed by the pigmentation of the scrotum and growth of the penis, and pubic hair follows. Peak height velocity (growth spurt) is two years later in boys than in girls and occurs at testicular stage 4-5 (i.e. testicular volume 10-12 ml), which is around 13-14 years of age. Breast enlargement occurs in 40-60% of boys (rarely, significant enough to cause social embarrassment in 10%) and is a result of oestradiol produced by the metabolism of testosterone. It usually resolves within three years. During puberty, elongation of the eye often occurs, causing short-sightedness.

Cow’s milk differs in composition to human breast milk. The sodium content of cows milk is too high, which can easily overwhelm a baby’s developing kidneys and lead to hypernatremia and dehydration. In addition to its iron content being too low, cows milk can cause further increase iron deficiency anaemia by irritating the baby’s intestinal lumen and causing blood loss per rectum. After 12 months a baby’s gastrointestinal tract and organs are able to tolerate cows milk.

Clotrimazole interferes with the ergosterol biosynthesis by decreasing ergosteron I biosynthesis, increasing membrane permeability, and disrupting membrane-bound enzyme systems.Vaginal candidiasis is an extremely common condition. Predisposing factors include:- diabetes mellitus- drugs: antibiotics, steroids- pregnancy- immunosuppression – iatrogenic

Minimal-change disease (MCD) refers to a histopathologic glomerular lesion, typically found in children, that is almost always associated with nephrotic syndrome. The most noticeable symptom of MCD is oedema, which can develop very rapidly. Due to the renal loss of proteins muscle wasting and growth failure may be seen in children. Renal function is usually not affected and a proteinuria of more than 40 mg/h/m2 is the only abnormal finding in urinalysis.

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.

Blalock-Thomas-Taussig shunt is a surgical procedure done to increase pulmonary blood flow in cases like pulmonary atresia and results in a continuous murmur.The type of murmur which is heard during the systole and remains continuous till the second heart sound is known as a continuous murmur. This murmur is often intense and considered rough. It can also be accompanied by quivering. There are numerous causes of a continuous murmur that differ depending on the location and components of this murmur. It is caused by the shunting of blood from a high-pressure circulation to a low-pressure circulation. Pathological causes of a continuous murmur include patent ductus arteriosus, aortopulmonary window, AV malformation, coarctation of aorta, any acquired trauma, and iatrogenic cause like interventional or surgical procedures.

Capillary haemangiomas (strawberry naevi) are very common benign tumours that may appear in infancy. This particular case requires a close follow-up to monitor the naevus’ size and make sure it doesn’t expand or gets bigger, affecting the baby’s visual field.It is more common in preterm babies and girls are 3x more commonly affected than boys. It presents at birth in 30%, and is a focal and solitary in 80% of cases, most commonly found on the head and neck (60%), followed by the trunk (25%) and extremities (15%).

Among the statements provided, boluses of insulin are given to treat diabetic ketoacidosis (DKA).The following methods are adopted for the treatment of DKA:- Fluids: Boluses of 10 ml/kg of normal saline. Stop at three boluses to avoid precipitating cerebral oedema. The remaining deficit has to be corrected over 48 hours. Strict input/output, U&E, and pH monitoring is necessary in such patients.- Insulin: Insulin infusion can be initiated at 0.05-0.1 unit/kg/hour. It is essential to monitor blood glucose closely, and the aim is to decrease by 2 mmol/hour.- Potassium: Initially, it will be high, but following insulin administration, the levels drop quickly as K+ enters cells with glucose, and thus, replacement is almost always necessary.- Acidosis: Bicarbonate is avoided unless pH is less than 7. Acidosis will get corrected with the correction of fluid and insulin deficits. The definitive treatment is directed towards correcting the underlying precipitants of DKA, e.g. sepsis, infections.

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.

Answer: RicketsRickets is a disease of growing bone that is unique to children and adolescents. It is caused by a failure of osteoid to calcify in a growing person. The signs and symptoms of rickets can include:pain -the bones affected by rickets can be sore and painful, so the child may be reluctant to walk or may tire easily; the child’s walk may look different (waddling)skeletal deformities -thickening of the ankles, wrists and knees, bowed legs, soft skull bones and, rarely, bending of the spinedental problems -including weak tooth enamel, delay in teeth coming through and increased risk of cavitiespoor growth and development -if the skeleton doesn’t grow and develop properly, the child will be shorter than averagefragile bones -in severe cases, the bones become weaker and more prone to fractures.Marfan syndrome (MFS) is a genetic disorder of the connective tissue. The degree to which people are affected varies. People with Marfan tend to be tall and thin, with long arms, legs, fingers and toes. They also typically have flexible joints and scoliosis. The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and aortic aneurysm. Other commonly affected areas include the lungs, eyes, bones and the covering of the spinal cord.Ehlers-Danlos syndrome is a group of inherited disorders that affect your connective tissues – primarily your skin, joints and blood vessel walls. People who have Ehlers-Danlos syndrome usually have overly flexible joints and stretchy, fragile skin. This can become a problem if you have a wound that requires stitches, because the skin often isn’t strong enough to hold them.A more severe form of the disorder, called Ehlers-Danlos syndrome, vascular type, can cause the walls of your blood vessels, intestines or uterus to rupture. Osteoporosis is a disease in which bone weakening increases the risk of a broken bone. It is the most common reason for a broken bone among the elderly. Bones that commonly break include the vertebrae in the spine, the bones of the forearm, and the hip. Until a broken bone occurs there are typically no symptoms. Bones may weaken to such a degree that a break may occur with minor stress or spontaneously. Chronic pain and a decreased ability to carry out normal activities may occur following a broken bone.Osteoporosis may be due to lower-than-normal maximum bone mass and greater-than-normal bone loss. Bone loss increases after menopause due to lower levels of oestrogen. Osteoporosis may also occur due to a number of diseases or treatments, including alcoholism, anorexia, hyperthyroidism, kidney disease, and surgical removal of the ovaries.

Scaphoid fractures are regarded as fractures that are difficult to heal, so a classification system is needed taking different factors into account that should lead towards proper guidance to the healing time and management of these fractures. Popular classification criteria are Herbert, Russe, and Mayo classification systems. Herbert’s classification system is based on the fracture’s stability and proposes that all complete bicortical fractures (except for tubercle fractures) are unstable. Salter-Harris classification is used for categorizing epiphyseal fractures, while Delbert classification system is reserved for fractures of the proximal femur in children. Fractures of the ankles are classified using Ottawa rules, and Garland classification is used for supracondylar fractures in children.

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 observesť 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.

Based on the presented clinical scenario, the most probable diagnosis for the patient would be testicular torsion.Rationale:The gubernaculum is the structure responsible for aiding the descent of the testicles from the abdomen into the scrotum. The processus vaginalis precedes the descent of the testes and then undergoes closure. Abnormalities such as the persistence of a patent processus vaginalis, known as bell clapper deformity, predispose to testicular torsion.Other options:- Varicocele: Nutcracker syndrome occurs where the left renal vein becomes compressed in between the superior mesenteric artery and the aorta. Since the left gonadal vein drains into the left renal vein, this results in a varicocele. – Epididymitis and mumps orchitis are differentials for acute testicular pain but are not due to a defect in the processus vaginalis. – An incarcerated inguinal hernia presents mainly with signs of bowel obstruction which are not mentioned in the clinical scenario.The descent of testes:- Until the end of foetal life, the testicles are located within the abdominal cavity. – They are initially located on the posterior abdominal wall on a level with the upper lumbar vertebrae (L2). – Attached to the inferior aspect of the testis is the gubernaculum testis which extends caudally to the inguinal region, through the canal and down to the superficial skin. – It is interesting to note that both the testis and the gubernaculum are extra-peritoneal.- As the foetus grows, the gubernaculum becomes progressively shorter. It carries the peritoneum of the anterior abdominal wall (the processus vaginalis). As the processus vaginalis descends the testis is guided by the gubernaculum down the posterior abdominal wall and the back of the processus vaginalis into the scrotum.- By the third month of foetal life the testes are located in the iliac fossae, by the seventh they lie at the level of the deep inguinal ring.Usually, the processus vaginalis closes after birth but may persist predisposing to indirect hernias. On the other hand, a partial closure may result in the development of cysts on the cord.

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.

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.

The boy needs re-hydration and hydro-electrolytic re-balancing due to fluid losses from the gastroenteritis and subsequent dehydration.

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.

Ebstein’s anomaly is characterised by apical displacement and adherence of the septal and posterior leaflets of the tricuspid valve to the underlying myocardium, thereby displacing the functional tricuspid orifice apically and dividing the right ventricle into two portions. The main haemodynamic abnormality leading to symptoms is tricuspid valve incompetence. The clinical spectrum is broad; patients may be asymptomatic or experience right-sided heart failure, cyanosis, arrhythmias and sudden cardiac death (SCD). Many Ebstein’s anomaly patients have an interatrial communication (secundum atrial septal defect (ASD II) or patent foramen ovale). Other structural anomalies may also be present, including a bicuspid aortic valve (BAV), ventricular septal defect (VSD), and pulmonary stenosis. The morphology of the tricuspid valve in Ebstein anomaly, and consequently the clinical presentation, is highly variable. The tricuspid valve leaflets demonstrate variable degrees of failed delamination (separation of the valve tissue from the myocardium) with fibrous attachments to the right ventricular endocardium.The displacement of annular attachments of septal and posterior (inferior) leaflets into the right ventricle toward the apex and right ventricular outflow tract is the hallmark finding of Ebstein anomaly.

Osteochondromas, or osteocartilaginous exostoses, are the most common benign bone tumours, and tend to appear near the ends of long bones. The overgrowth can occur in any bone where cartilage forms bone, and they are capped by cartilage. They are most common in people between the ages of 10-20 years old.

Bernard- Soulier Syndrome results from a deficiency of platelet glycoprotein protein Ib, which mediates the initial interaction of platelets with the subendothelial components via the von Willebrand protein. It is a rare but severe bleeding disorder. Platelets do not aggregate to ristocetin. The platelet count is low, but, characteristically, the platelets are large, often the size of red blood cells, and may be missed on complete blood counts because most automatic counters do not count them as platelets.

This is a case of nephrotic syndrome that can be confirmed by the presence of urinary albumin. It should be further investigated by a tissue sample to confirm the diagnosis.

Answer: Surveillance annual flexible sigmoidoscopy from age 13 years until age 30 years. Familial adenomatous polyposis (FAP) is the most common adenomatous polyposis syndrome. It is an autosomal dominant inherited disorder characterized by the early onset of hundreds to thousands of adenomatous polyps throughout the colon. If left untreated, all patients with this syndrome will develop colon cancer by age 35-40 years. In addition, an increased risk exists for the development of other malignancies.Most patients with FAP are asymptomatic until they develop cancer. As a result, diagnosing presymptomatic patients is essential.Of patients with FAP, 75%-80% have a family history of polyps and/or colorectal cancer at age 40 years or younger.Nonspecific symptoms, such as unexplained rectal bleeding (haematochezia), diarrhoea, or abdominal pain, in young patients may be suggestive of FAP.In a minority of FAP families a mutation cannot be identified and so annual flexible sigmoidoscopy should be offered to at risk family members from age 13-15 years until age 30, and at three to five year intervals thereafter until age 60 years.

Mongolian spots, otherwise called congenital dermal melanocytosis, are pigmented birthmarks. They are usually located on the buttocks or back and although they’re usually present at birth, they may appear soon after. They are flat and have a blue-grey colour (bruise-like). They are benign and present no health risk.

The origins of the neural tube and the nape of the neck where nuchal translucency measurements are taken are from embryonic ectoderm.The structural development of the head and neck occurs between the third and eighth weeks of gestation. The 5 pairs of branchial arches, corresponding to the primitive vertebrae gill bars, that form on either side of the pharyngeal foregut on day 22 are the embryologic basis of all the differentiated structures of the head and neck. Each arch consists of 3 layers: an outer covering of ectoderm, an inner covering of endoderm, and a middle core of mesenchyme. These arches are separated further into external, ectoderm-lined pharyngeal clefts and internal, endoderm-lined pharyngeal pouchesA population of ectodermal cells adjacent to the neural fold and not included in the overlying surface (somatic) ectoderm gives rise to the formation of the neural crest. These neuroectodermal crest cells are believed to migrate widely throughout the developing embryo in a relatively cell-free enriched extracellular matrix and differentiate into a wide array of cell and tissue types, influenced by the local environment. Most connective and skeletal tissues of the cranium and face ultimately come from the derivatives of neural crest cells.

Inguinal hernias are a common surgical condition in preterm male infants. Surgical repair is usually suggested shortly after birth due to a fear of incarceration or strangulation. These hernias are often indirect as they pass though the processes vaginalis, rather than the posterior wall of the inguinal canal. Recurrence of the hernia is the most common post operative complication. While other complications can occur if left un-repaired, hydrocele and testicular atrophy are not as common, neither is spontaneous resolution.

The boy seems to have a varicocele so the most appropriate next step would be reassurance. A varicocele is an enlargement of the veins within the scrotum called the pampiniform plexus. A varicocele only occurs in the scrotum and is very similar to varicose veins that can occur in the leg. Because a varicocele usually causes no symptoms, it often requires no treatment.

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.

A child may be diagnosed with PANDAS when:- Obsessive-compulsive disorder (OCD), tic disorder, or both suddenly appear following a streptococcal (strep) infection, such as strep throat or scarlet fever.- The symptoms of OCD or tic symptoms suddenly become worse following a strep infection.The symptoms are usually dramatic, happen overnight and out of the blue,ť and can include motor or vocal tics or both and obsessions, compulsions, or both. In addition to these symptoms, children may become moody or irritable, experience anxiety attacks, or show concerns about separating from parents or loved ones.

A lumbosacral lipoma is a form of congenital spinal lipoma and can be regarded as a cutaneous marker of dysraphism. It is not a skin condition but rather represents a defect in the process of neurulation and leads to a constellation of other abnormalities. The most common other systemic abnormalities associated with midline lumbosacral lipoma include complex anorectal and urological malformations. Other mentioned conditions are benign rashes or birthmarks.

With children nosebleeds often occur after nose picking and are benign in nature. For active bleeding, pressing of soft parts of the nose is required to stop the bleeding before doing anything else.

Skin conditions resulting from excessive epidermal proliferation or inflammation, leading to a production of excessive scales, are referred to as papulosquamous disorders. These disorders can be generalized and localized. Localized causes of scaly lesions include tinea corporis, tinea cruris, tinea pedis, seborrheic dermatitis, psoriasis, pityriasis Versicolor, pityriasis alba, DLE, ichthyosis including Netherton syndrome (a severe form of ichthyosis which is autosomal recessive), and pellagra. Generalized causes include guttate psoriasis and pityriasis rosacea. Hand, foot, and mouth disease is a contagious viral illness that causes blisters in the mouth and on the extremities.

The x-ray is suggestive of bronchiectasis. The most probable aetiology especially considering recurrent chest infections at such a young age is cystic fibrosis.

Any blood test used to detect HIV infection must have a high degree of sensitivity (the probability that the test will be positive if the patient is infected) and specificity (the probability that the test will be negative if the patient is uninfected). Unfortunately, no antibody test is ever 100 % sensitive and specific. Therefore, if available, all positive test results should be confirmed by retesting, preferably by a different test method. HIV antibody tests usually become positive within 3 months of the individual being infected with the virus (the window period). In some individuals, the test may not be positive until 6 months or longer (considered unusual). In some countries, home testing kits are available. These tests are not very reliable, and support such as pre and post test counselling is not available.

The symptoms and signs described are typical for epiglottitis which represents a paediatric emergency and the child should be put immediately on corticosteroids.

Puberty is the general term for the transition from sexual immaturity to sexual maturity. There are two main physiological events in puberty:- Gonadarche is the activation of the gonads by the pituitary hormones follicle-stimulating hormone (FSH) and luteinizing hormone (LH).- Adrenarche is the increase in production of androgens by the adrenal cortex. It is the term for the maturational increase in adrenal androgen production that normally becomes biochemically apparent at approximately six years of age in both girls and boysA number of other terms describe specific components of puberty:- Thelarche is the appearance of breast tissue, which is primarily due to the action of oestradiol from the ovaries. – Menarche is the time of first menstrual bleed. – Pubarche is the appearance of pubic hair, which is primarily due to the effects of androgens from the adrenal gland. The term is also applied to first appearance of axillary hair, apocrine body odour, and acne.The earliest detectable secondary sexual characteristic on physical examination in most girls is breast/areolar development (thelarche). Ovarian enlargement and growth acceleration typically precede breast development but are not apparent on a single physical examination. Oestrogen stimulation of the vaginal mucosa causes a physiologic leukorrhea, which is a thin, white, non-foul-smelling vaginal discharge that typically begins 6 to 12 months before menarche. Menarche occurs, on average, 2 to 2.5 years after the onset of puberty

Tuberous sclerosis is an autosomal dominant neurocutaneous condition associated with increased psychiatric co-morbidity. It results from the mutation of TSC1 or TSC2 tumour suppressor genes. Multiple benign tumours of the brain and other vital organs are characteristic of this disease. Important findings include subependymal nodules, bone cysts, cardiac rhabdomyoma, and learning difficulties. Lisch nodules of the iris occur in neurofibromatosis.

Deficiency of 21-hydroxylase, resulting from mutations or deletions of CYP21A, is the most common form of Congenital Adrenal Hyperplasia, accounting for more than 90% of cases.Females with mild 21-hydroxylase deficiency are identified later in childhood because of precocious pubic hair, clitoromegaly, or both, often accompanied by accelerated growth and skeletal maturation (simple virilizing adrenal hyperplasia)Diagnosis of 21-hydroxylase deficiency: High serum concentration of 17-hydroxyprogesterone (usually >1000 ng/dL) and urinary pregnanetriol (metabolite of 17-hydroxyprogesterone) in the presence of clinical features suggestive of the disease; 24-hour urinary 17-ketosteroid levels are elevated

Drug withdrawal symptoms after a period of substance abuse can lead to a range of symptoms. Amphetamines are known to cause hypersomnia, hyperphagia, and irritability, as well as vivid dreams as a result of withdrawal. Similar symptoms are found in cocaine withdrawal. Alcohol withdrawal presents with symptoms such as insomnia, tremulousness and delirium. Ecstasy withdrawal includes irritation, mood swings, fatigue and insomnia. Heroin withdrawal presents with symptoms which include dilated pupils, insomnia, abdominal cramps and muscle aches. Withdrawal from prolonged cannabis use can cause depression, anxiety restlessness and insomnia.

This girl most likely has Turner syndrome (TS) also known as 45,X, a condition in which a female is partly or completely missing an X chromosome. Signs and symptoms vary among those affected. Often, a short and webbed neck, low-set ears, low hairline at the back of the neck, short stature, and swollen hands and feet are seen at birth. Typically, they are without menstrual periods, do not develop breasts, and are unable to have children. Heart defects, diabetes, and low thyroid hormone occur more frequently. Most people with TS have normal intelligence. Many, however, have troubles with spatial visualization such as that needed for mathematics. Vision and hearing problems occur more often. Turner syndrome is not usually inherited from a person’s parents. No environmental risks are known and the mother’s age does not play a role. As a chromosomal condition, there is no cure for Turner syndrome. However, much can be done to minimize the symptoms including prescribing growth hormone, either alone or with a low dose of androgen, and oestrogen replacement therapy which is crucial long term for maintaining good bone integrity, cardiovascular health and tissue health

Individuals with Down syndrome are at increased risk for a variety of eye and vision disorders. Fortunately, many of these eye problems can be treated, especially if discovered at an early age. The quality of life can be further enhanced by the proper assessment and correction of eye problems. The most common eye findings include:- Refractive errors – Children with Down syndrome are more likely to need glasses than are other children. This may be due to myopia (near-sightedness), hyperopia (far-sightedness), and/or astigmatism. Refractive error may develop early in life or later on.- Strabismus – Between 20% and 60% of individuals with Down syndrome have eyes that are misaligned (strabismus). Esotropia (eyes that drift in) is most common while exotropia(eyes that drift out) occurs less frequently. Strabismus may be treated with glasses, patching and/or eye muscle surgery.- Keratoconus – A cone shaped distortion of the cornea (front layer of the eye), occurs in up to 30% of those with Down syndrome. Keratoconus is usually diagnosed around puberty and should be monitored regularly. Blurred vision, corneal thinning, or corneal haze may result from keratoconus. Keratoconus is worsened by eye rubbing; therefore, eye rubbing should be discouraged.- Cataracts – There is an increased incidence of congenital cataracts (present at birth) as well as acquired cataracts (develop later). Cataracts may progress slowly and should be monitored regularly, with surgical treatment performed when appropriate.- Glaucoma- There is an increased risk of infantile glaucoma (elevated pressure within the eye).- Blepharitis – Inflammation of the eyelids with redness at the edge of the lids and crusting around the lashes may occur and cause a feeling of dryness or burning. Treatment is with eyelid hygiene and topical antibiotics.- Tearing – Excessive tears or watering of the eyes may occur because the drainage channels are blocked or narrow (nasolacrimal duct obstruction). This may require surgical intervention.- Nystagmus – This is an involuntary back-and-forthť movement or shaking of the eyes. It can affect vision to a mild or severe degree.

Neurofibromatosis type 2, also known as schwannomin, is an autosomal dominant genetic disease caused by mutation of the merlin gene located on chromosome 22. Merlin is a tumour suppressor protein, which is responsible for controlling cell shape, growth and adhesion, and is predominantly found in nervous tissue. Its mutation increases the risk of tumour development especially bilateral vestibular schwannomas, the hallmark of neurofibromatosis 2.

Henoch-Schonlein purpura (HSP), also known as IgA vasculitis, is a disease of the skin, mucous membranes, and sometimes other organs that most commonly affects children. In the skin, the disease causes palpable purpura (small, raised areas of bleeding underneath the skin), often with joint pain and abdominal pain. It is an acute immunoglobulin A (IgA)-mediated disorder. The tetrad of purpura, arthritis, kidney inflammation, and abdominal pain is often observed.

One of the features of pyloric stenosis is hypochloraemic, hypokalaemic metabolic alkalosis. In emergency settings, capillary blood gas is the easiest and fastest way to establish a sustainable suspicion of pyloric stenosis. However, all tests are useful for the diagnosis of the condition.

Case control studies are used to determine the relationship between exposure to a risk factor and the resultant outcomes. It finds patients in the general population who have a certain condition and retrospectively searches for past exposure to possible risk factors for the disease. Controls are people who do not have the disease found in the general population. This type of study is useful for rare diseases, and is less time consuming to conduct. While cohort studies can be used to study rare diseases they measure the relative risk of developing the disease over time based on exposure. Ecological or cross-sectional studies attempt take a snapshot of a whole population, and thus are inappropriate for rare diseases as larger sample numbers are needed. A randomised control trial is better suited to determine the effect of an intervention.

Time- EventWeek 1: ImplantationWeek 2: Formation of bilaminar diskWeek 3: Formation of primitive streakFormation of notochordGastrulationWeek 4: Limb buds begin to formNeural tube closesHeart begins to beatWeek 10: Genitals are differentiated

To get more information regarding hearing loss, a physician should perform both Rinne and Weber tests. Weber test alone cannot tell which side is affected.Rinne test – a vibrating tuning fork (typically 512 Hz) is placed initially on the mastoid process behind each ear until sound is no longer heard. Then, without re-striking the fork, the fork is then quickly placed just outside the ear with the patient asked to report when the sound caused by the vibration is no longer heard. A normal or positive Rinne test is when sound is still heard when the tuning fork is moved to air near the ear (air conduction or AC), indicating that AC is equal or greater than (bone conduction or BC).Weber’s test – tuning fork is placed in the middle of the forehead equidistant from the patient’s ears. The patient is then asked which side is loudest. In unilateral sensorineural deafness, sound is localised to the unaffected side however in unilateral conductive deafness, sound is localised to the affected side.

Fluid replacement therapy should be initiated immediately because the patient is suffering from severe dehydration as shown by the low urine output, the dry mucous membranes and the low skin turgor.

The boy is most probably a type 1 diabetic patient. Such a condition can affect the behaviour and psychological state of a young child reflected in their behaviour. The parents should seek the help of a clinical psychologist.

Incontinentia pigmenti is a genetic condition that affects females more than males. It usually manifests in the skin but can affect other parts of the body as well. It presents with a blistering rash that may evolve into wart-like growths. Hyperpigmentation and hair loss are also present, as well as eye and teeth abnormalities. Clinically there are three phases: 1- the bullous phase – crops of vesicles appear in the first 2 weeks of life;2- the papular phase – warty papules that flatten out over the skin; and 3- the hyperpigmented phase – pigmentary changes in the form of whorls and streaks that are hypo- and hyperpigmented in nature.

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.

Reed-Sternberg cells are classically associated with Hodgkin lymphoma.Classical diagnostic Reed-Sternberg cells are large (15 to 45 micrometres), have abundant slightly basophilic or amphophilic cytoplasm and have at least two nuclear lobes or nuclei. Diagnostic Reed-Sternberg cells must have at least two nucleoli in two separate nuclear lobes. The nuclei are large and often rounded in contour with a prominent, often irregular nuclear membrane, pale chromatin and usually one prominent eosinophilic nucleolus, with perinuclear clearing (halo), resembling a viral inclusion.

HbA1c stands for glycated haemoglobin. In patients with haemolytic diseases associated with a shortened RBC survival, HbA1c levels can be unusually low despite controlled diabetes mellitus.These haemolytic diseases can include glucose-6-phosphate dehydrogenase deficiency and sickle cell anaemia.HbA1c:It is a measure of non-enzymatic glycation which occurs due to haemoglobin’s exposure to plasma glucose. As plasma glucose increases so does HbA1c.The level of HbA1c quantitively assesses the control of diabetes mellitus over the last 120 days (as this is the life span of a red blood cell).Haemoglobin type A is separated on cation exchange chromatographyOther subsections include HbA1O, HbA1a, HbA1b.According to the updated NICE recommendations (2015):The target level of HbA1c in children with T1DM is 48 mmol/mol (6.5%) or lower. It is monitored every three months. Better control is associated with fewer long term complications

Infective endocarditis occurs when microorganisms enter the bloodstream and infect damaged endocardium or endothelial tissue. It most commonly involves the heart valves (either native or prosthetic), but it may also occur at the site of a septal defect, on the chordae tendineae, or on the mural endocardium. The prototypic lesion is at the site of the infection; the vegetation is a mass of platelets, fibrin, microcolonies of microorganisms, and scant inflammatory cells. Endocarditis is classified as acute or subacute, which applies to the features and the progression of infection until diagnosis.The oral cavity, the skin, and the upper respiratory tract are the primary portals for Streptococcus viridans; Staphylococcus species; and Haemophilus aphrophilus, Aggregatibacter (formerly Actinobacillus) actinomycetemcomitans, Cardiobacterium hominis, Eikenella corrodens, and Kingella kingae (HACEK) organisms. Streptococcal and staphylococcal organisms are responsible for more than 80% of cases of bacterial IE.Streptococcus viridans accounts for approximately 50-60% of cases of subacute disease.While S aureus infection is the most common cause of IE, including Prosthetic valve endocarditis, acute IE, and IV Drug Abusers IE

Macrosomia can be defined as either a birth weight greater than 4kg or birth weight greater than 90% for the gestational age. Risk factors for macrosomia include maternal diabetes, excessive gestational weight gain, pre-pregnancy obesity, male gender, ethnicity, and advanced gestational age. Genetic conditions associated with macrosomia are Bardet-Biedl syndrome, Perlman syndrome, Beckwith-Wiedemann syndrome, and Prader-Willi syndrome. Silver-Russell syndrome is associated with intrauterine growth retardation and post-natal failure to thrive.

McCune-Albright syndrome, characterised by polyostotic fibrous dysplasia, cafe au lait spots, sexual precocity, and hyperfunction of multiple endocrine glands, is the result of G-protein abnormality.

In this particular case, the symptoms and signs are suggestive for congenital dislocation of the hip. There are several risk factors present including, a breech delivery, female gender (female:male = 6:1) and oligohydramnios. It is also more common in the left hip than the right.

As her paracetamol level is under the required treatment threshold, she requires no medical treatment. However, she has taken a simultaneous drug overdose and excessive alcohol consumption. These two factors together require psychiatric evaluation and so she should be referred to the psychiatry ward.

The most probable cause for the patient’s presenting symptoms is encephalitis secondary to measles infection.Encephalitis:Encephalitis occurs in 1 per 1000 measles cases. It usually presents within 1-14 days of the rash, usually day 5. It may present with fever, headache, vomiting, stiff neck, meningeal irritation, drowsiness, seizures, reduced consciousness; 15% will have neurological sequelae; 10% mortality.Other options:- Acute disseminated encephalomyelitis occurs in 1 per 1000 measles cases. It is thought to be a postinfectious immune response. Clinical manifestations include fever, headache, neck stiffness, seizures and mental status changes. It could fit this presentation although it tends to present in the recovery phase of measles infection, typically two weeks after the exanthem. In contrast, encephalitis tends to occur within a few days of the rash.- The history is not that of a typical febrile seizure as it lasted >15 minutes. He has also not recovered consciousness at 4 hours. The diazepam should have been eliminated within 4 hours and so should no longer be contributing to his reduced level of consciousness. Also, the history states the recent diagnosis of measles, and so complications of measles should be considered.- Intracranial bleed secondary to thrombocytopenia: Measles is not known to cause thrombocytopenia.- Subacute sclerosing panencephalitis (also known as Dawson’s encephalitis): This is an extremely rare complication of measles. It is a progressive degenerative disease of the central nervous system that occurs 7-10 years after a measles infection. The treatment for SSPE is mainly intraventricular interferon therapy through an Ommaya reservoir. The prognosis is poor, and it is usually fatal.

The presentation of the patient and the characteristic ring-like (Bull’s eye) rash are highly suggestive of a diagnosis of Lyme disease caused by Borrelia burgdorferi. The spirochete is transmitted by Ixodid ticks. The initial presentation of this infection includes an erythema migrans rash that starts from the site of tick bite and gradually expands. Other features supporting the diagnosis are the history of camping, fever, joint pain, and the neurological symptoms presenting as facial nerve palsy.

Logistic regression analysis is an easy to use regression that can serve to estimate how a binary or dichotomous dependent variable, for example whether or not a student passes or fails a medical exam, is related to the number of hours the student studies for the exam. This regression is able to yield an odds ratio, i.e. the probability of passing the exam based on each additional hour of study. As stated, the outcome does not need to be normally distributed but is usually binary. This type of analysis is not complex and does not need to be avoided as it is available most statistical packages.

Retinopathy of prematurity (ROP) affects premature infants. It is a retinal vasoproliferative disease for which current screening guidelines are primarily based on birth weight and gestational age. The disease is first detected by screening at 32-38 weeks of gestation or in infants that are about 6-7 weeks old. Screening consists of dilation of the pupils and observing for dilated vessel.

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

Alopecia areata is seen in 6-8.8% of patients with Down syndrome, but only 0.1% of patients with alopecia areata have Down syndrome. The high frequency of alopecia areata in patients with Down syndrome suggests that a genetic linkage for alopecia areata may exist on chromosome 21.

The paired sample t-test, sometimes called the dependent sample t-test, is a statistical procedure used to determine whether the mean difference between two sets of observations is zero. In a paired sample t-test, each subject or entity is measured twice, resulting in pairs of observations. Common applications of the paired sample t-test include case-control studies or repeated-measures designs.Statistical significance is determined by looking at the p-value. The p-value gives the probability of observing the test results under the null hypothesis. The lower the p-value, the lower the probability of obtaining a result like the one that was observed if the null hypothesis was true. Thus, a low p-value indicates decreased support for the null hypothesis. However, the possibility that the null hypothesis is true and that we simply obtained a very rare result can never be ruled out completely. The cut-off value for determining statistical significance is ultimately decided on by the researcher, but usually a value of .05 or less is chosen. This corresponds to a 5% (or less) chance of obtaining a result like the one that was observed if the null hypothesis was true.

Atopic dermatitis is an allergic condition which is more apparent in those children who have a positive family history in their 1st or 2nd degree relatives. In some cases, there might be a positive history of bronchial asthma. The best treatment option in this case would be topical application of 1% hydrocortisone ointment to the affected areas of the child. We cannot prescribe a strong ointment to the face because it may lead to skin atrophy, telangiectasia and other steroid related topical complications.