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Question 1
Incorrect
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A mother attends the clinic with her 4-year-old. She has noticed a discharge from the his left ear over the past two weeks. He has a history of frequent episodes of ‘ear infection’ but has been otherwise well. There is no reported fever. On examination, the child is systemically well. The child is co-operative with otoscopy which shows an intact pink tympanic membrane on the right but a possible perforation on the left. What is the next best step in management?
Your Answer: Reassurance
Correct Answer: Refer for ENT opinion
Explanation:The child has Chronic suppurative otitis media (CSOM) which is defined as a perforated tympanic membrane with persistent drainage from the middle ear for more than 2-6 weeks.CSOM differs from chronic serous otitis media in that chronic serous otitis media may be defined as a middle ear effusion without perforation that is reported to persist for more than 1-3 months. Patients with chronic suppurative otitis media (CSOM) present with a draining ear of some duration and a premorbid history of recurrent acute otitis media, traumatic perforation, or the placement of ventilation tubes. Typically, they deny pain or discomfort. A common presenting symptom is hearing loss in the affected ear. Reports of fever, vertigo, and pain should raise concerns about infratemporal or intracranial complications. A history of persistent CSOM after appropriate medical treatment should alert the physician to consider cholesteatoma.The external auditory canal may or may not be oedematous and is not typically tender. The discharge varies from fetid, purulent, and cheese like to clear and serous. Granulation tissue is often seen in the medial canal or middle ear space. The middle ear mucosa visualized through the perforation may be oedematous or even polypoid, pale, or erythematous.
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This question is part of the following fields:
- ENT
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Question 2
Correct
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Female twins are born. They are noted by the midwife to be identical. They separated in the womb after implantation but before day 8.What type of twin is this?
Your Answer: Monochorionic diamniotic
Explanation:A monochorionic diamniotic (MCDA) twin pregnancy is a subtype of monozygotic twin pregnancy. An MCDA pregnancy results from a separation of a single zygote at ,4-8 days (blastocyst) following formation. These fetuses share a single chorionic sac but have two amniotic sacs and two yolk sacs. It accounts for the vast majority (70-75%) of monozygotic twin pregnancies although only ,30% of all twin pregnancies. The estimated incidence is at ,1:400 pregnanciesThe layman term is that the twins are identical – in reality, they are phenotypically similar, and of course of the same gender.
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This question is part of the following fields:
- Neonatology
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Question 3
Correct
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Isolated atrial septal defect is NOT characterized by which of the given findings?
Your Answer: Diastolic murmur
Explanation:ASD is an acyanotic congenital heart disease, characterized by the failure of the interatrial septum to form completely, which results in the mixing of left and right-sided blood. There are various types of ASD, some of them are ostium primum septal defect and patent foramen ovale. Clinical findings associated with ASD are a systolic ejection murmur, fixed splitting of second heart sound, prolonged PR interval, both left and right axis deviation (primum and secundum ASD, respectively). The most common finding is an incomplete right bundle branch block.
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This question is part of the following fields:
- Cardiovascular
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Question 4
Correct
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A 16 year old patient was admitted with walking difficulties and knee pain. Upon examination, his leg is externally rotated and is 2cm shorter. His ability to flex, abduct and medially rotate his leg is limited and when he flexes his hip, external rotation is increased. What is the most probable diagnosis?
Your Answer: Slipped femoral epiphysis
Explanation:The clinical presentation is typical of a slipped femoral epiphysis, which refers to a fracture through the growth plate (physis), resulting in slippage of the overlying end of the femur. It is the most common hip disorder in adolescence. SCFEs usually cause groin pain on the affected side, but sometimes cause knee or thigh pain. The range of motion in the hip is restricted in internal (medial) rotation, abduction, and flexion.
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This question is part of the following fields:
- Musculoskeletal
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Question 5
Correct
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A 13-year-old girl takes a deliberate, unknown number of paracetamol tablets in one go. She immediately regrets her actions and calls for help. She was brought to the hospital 2 hours after consuming the tablets. She has a history of HIV and is on antiretroviral therapy, though she cannot recall the name of the medication. Which of the following management options is most appropriate for this patient?
Your Answer: Check paracetamol level in further 2 hours' time
Explanation:According to the Rumack-Matthew Normogram, accurate levels of paracetamol can be measured only between 4-15 hours. The levels measured before 4 hours post-ingestion would highly underestimate the level of paracetamol ingested.The patient in question presents 2 hours after ingestion. Hence the most appropriate time to measure the levels of acetaminophen would be a further 2 hours later. Other options:- Note that the treatment with NAC can be delayed until the 4-hour level is obtained and compared to the nomogram.- Furthermore, haemodialysis is only indicated if she develops hepato-renal syndrome that is likely to occur 72-96 hours post-ingestion.- Indications for acute liver transplantation include persistent acidosis, hepatorenal syndrome and worsening coagulopathy.
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This question is part of the following fields:
- HIV
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Question 6
Incorrect
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A 2-year-old baby sustained a wound to her hand whilst playing in the garden. She is unvaccinated as the parents are concerned regarding side effects. There is no contraindication to vaccinations. What is the most appropriate action?
Your Answer: Give DPT and tetanus Ig
Correct Answer: Give complete DPT vaccine course
Explanation:A complete course of DPT should be given.
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This question is part of the following fields:
- Immunology
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Question 7
Correct
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A 7-year old child from a rural setting complains of recurrent abdominal pain. The child is found to have a heavy parasitic infestation and anaemia. Which type of anaemia is most likely seen in this patient?
Your Answer: Iron deficiency anaemia
Explanation:The most common cause of iron deficiency anaemia in children in developing countries is parasitic infection (hookworm, amoebiasis, schistosomiasis and whipworm).
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This question is part of the following fields:
- Microbiology
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Question 8
Correct
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A 12-year old girl was brought to the hospital with recurrent headaches for 6 months. Her physical examination revealed no abnormality. A CT scan of the head revealed a suprasellar mass with calcifications, eroding the surrounding sella turcica. The lesion is likely to represent:
Your Answer: Craniopharyngioma
Explanation:Craniopharyngiomas (also known as Rathke pouch tumours, adamantinomas or hypophyseal duct tumours) affect children mainly between the age of 5 and 10 years. It constitutes 9% of brain tumours affecting the paediatric population. These are slow-growing tumours which can also be cystic, and arise from the pituitary stalk, specifically the nests of epithelium derived from Rathke’s pouch. Histologically, this tumour shows nests of squamous epithelium which is lined on the outside by radially arranged cells. Calcium deposition is often seen with a papillary type of architecture.
ACTH-secreting pituitary adenomas are rare and mostly microadenomas. Paediatric astrocytoma’s usually occur in the posterior fossa. Although null cell adenomas can cause mass effect and give rise to the described symptoms, they are not suprasellar. Prolactinomas can also show symptoms of headache and disturbances in the visual field, however they are known to be small and slow-growing. -
This question is part of the following fields:
- Neurology
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Question 9
Correct
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Which of the following is an ECG feature of hypercalcaemia?
Your Answer: Tall T waves
Explanation: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
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This question is part of the following fields:
- Cardiovascular
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Question 10
Correct
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A 17-year-old boy is brought to the emergency after being stabbed in the upper arm and the median nerve is transected. Impaired function can be demonstrated in which of the following muscle/s?
Your Answer: Abductor pollicis brevis
Explanation:The median nerve is a peripheral nerve originating in the cervical roots C5–T1 of the brachial plexus. It supplies motor innervation to the anterior forearm flexors, the thenar muscles, and the two lateral lumbricals as well as sensory innervation to the lateral palm and anterior, lateral three and a half fingers. Motor and sensory deficits depend on whether the lesion is proximal (above the elbow) or distal (below the elbow). While proximal lesions present with the “hand of benediction,” distal lesions present with either the “pinch sign” (anterior interosseous nerve syndrome) or, in the case of carpal tunnel syndrome, with mildly impaired thumb and index finger motion. Both proximal lesions and carpal tunnel syndrome result in reduced sensation in the area of the thumb, index and middle finger. Anterior interosseus nerve syndrome does not cause any sensory deficits. Chronic injuries to the nerve result in atrophy of median nerve innervated muscles while acute injuries do not have this feature. Treatment is mostly conservative and focuses on rest and immobilization.
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This question is part of the following fields:
- Musculoskeletal
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Question 11
Incorrect
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Bone age would be delayed in which of the following conditions?
Your Answer: Congenital adrenal hyperplasia in a 3 year old boy
Correct Answer: Trisomy 21 in a 10 year old boy
Explanation: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.
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This question is part of the following fields:
- Endocrinology
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Question 12
Correct
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A 19-year-old girl presents with polydipsia (>3L daily), polyuria, nocturia, and new-onset nocturnal enuresis. A urine dipstick reveals no glucose or ketones, but her pregnancy test is positive.What is the most probable diagnosis?
Your Answer: Gestational diabetes insipidus
Explanation:The presenting features with the positive pregnancy test are highly suggestive of gestational diabetes mellitus.Diabetes Insipidus:It is much less common than gestational diabetes mellitus. It is characterised by the inability to concentrate urine, with marked thirst.Presenting symptoms include polydipsia (>3L daily), polyuria, nocturia, nocturnal enuresis.Physical examination may reveal features of dehydration and an enlarged bladder.Investigations include biochemical analysis for electrolytes, urine and plasma osmolality, fluid deprivation test, and cranial MRI.The main differential diagnosis is for diabetes insipidus is psychogenic polydipsia.There are three broad categories of diabetes insipidus (DI): – Central (cranial) DI: It is the most common form of diabetes insipidus.It occurs due to decreased secretion of ADH. It usually occurs due to hypothalamic disease and may show response to low-dose desmopressin.- Peripheral (nephrogenic) DI:It is characterised by the resistance of the kidney to ADH.It usually does not respond to low-dose desmopressin.- Gestational DI:It is rare and is mostly seen in teenage pregnancy.It usually presents in the third trimester and often resolves 4-6 weeks post-partum.
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This question is part of the following fields:
- Nephro-urology
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Question 13
Correct
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A 8 year old child presents with fresh rectal bleeding. Which of the following statements is true?
Your Answer: Intestinal hamartomatous polyps are seen in Cowden syndrome
Explanation:Colonic Polyposis and neoplasia are often seen in Cowden Syndrome which is a hamartomatous polyposis syndrome. Patients with Cowden syndrome have an increased risk for colorectal cancer.
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This question is part of the following fields:
- Gastroenterology And Hepatology
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Question 14
Correct
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A 13-year-old male with epilepsy presents to the emergency department. On examination, he is found to have a prominent carotid pulse but a feeble femoral pulse. He was also found to be hypertensive with blood pressure in his upper limbs found to be 40 mmHg more than that of the lower limbs.Auscultation reveals an ejection-systolic murmur at the upper left sternal edge and the left interscapular area and an audible ejection click at the apex.An ECG reveals features suggestive of mild left ventricular hypertrophy and a chest X-ray reveals mild cardiomegaly with notches on the lower surface of the 3rd, 4th and 5th ribs. What is the most probable diagnosis?
Your Answer: Coarctation of the aorta
Explanation: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.
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This question is part of the following fields:
- Cardiovascular
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Question 15
Correct
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Which of the following is true regarding primitive reflexes in a 12-month-old infant?
Your Answer: The Moro reflex is absent
Explanation:Primitive reflexes are central nervous system responses, many of which disappear as a child matures. Retention of these reflexes may point to atypical neurology such as in cerebral palsy or stroke. However, some persist into adulthood. The stepping reflex is present from birth and normally disappears by 6 weeks, while the moro reflex is present from birth to about 4 months. The asymmetrical tonic neck reflex disappears by about 6 months. Reflexes that persist include the head righting reflex which develops at 6 months, and the parachute reflex which develops at 9 months.
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This question is part of the following fields:
- Child Development
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Question 16
Correct
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A 10-year-old boy presents with bilaterally enlarged parotid glands for more than 9 months. On examination, both parotid glands are firm and non-tender and are not warm to touch.What is the most probable infectious cause for chronic parotitis in the given scenario?
Your Answer: Human immunodeficiency virus (HIV)
Explanation:The most probable cause for chronic parotitis in this patient would be HIV infection.Rationale:Chronic infectious parotitis is relatively uncommon in children. While mycobacterial infection can result in chronic parotitis, HIV is a relatively more common cause. The presentation should always prompt an HIV test. Other options:- While mumps is the most common cause of acute viral parotitis, the chronic nature of the boy’s presentation rules it out. – Acute bacterial parotitis is usually unilateral and is warm and tender to touch.
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This question is part of the following fields:
- HIV
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Question 17
Incorrect
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Which of the following is not associated with hirsutism?
Your Answer: Congenital adrenal hyperplasia
Correct Answer: Delayed puberty
Explanation: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.
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This question is part of the following fields:
- Dermatology
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Question 18
Correct
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A 2-year-old boy was admitted in the A&E with a history of a 38.4°C fever and 15 minute tonic clonic seizure episode at home. However, he is conscious now, his temperature is normal and the fit has stopped. What is the most likely diagnosis?
Your Answer: Febrile convulsion
Explanation:Febrile seizures are convulsions that can happen when a child, most often between the ages of six months and three years, has a fever. They usually last for less than five minutes and although the child may lose consciousness, they are relatively harmless. However, sometimes they can last for up to 15 minutes and when they are termed complex febrile seizures.
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This question is part of the following fields:
- Emergency Medicine
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Question 19
Correct
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A 12-week antenatal scan reveals a massive neck swelling in the foetus. While assessing the mother, she is found to have mild learning difficulties, short stature and a heart murmur. What is the most probable diagnosis?
Your Answer: Noonan syndrome
Explanation:The most probable diagnosis in this patient is Noonan syndrome.Noonan syndrome is an autosomal dominant condition characterised by short stature, heart defects (mainly pulmonary stenosis) and learning difficulties. An affected foetus can present with a significant increase in the nuchal thickness or a cystic hygroma of the neck. The condition is variable, and an affected parent is often only diagnosed after the diagnosis in the child.
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This question is part of the following fields:
- Genetics And Dysmorphology
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Question 20
Correct
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A 6 year old child who has been developing normally until the age of 18 months, is now being investigated for developmental delay. The girl started losing her acquired skills and stopped walking. During the clinical examination she is holding her hands together and twisting and turning them. What is the most probable diagnosis?
Your Answer: Rett syndrome
Explanation:Rett syndrome is a disorder that affects the brain and occurs most commonly in girls. It presents with a period of normal development followed by severe problems with language and communication, learning, coordination, and other brain functions.
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This question is part of the following fields:
- Genetics And Dysmorphology
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Question 21
Incorrect
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A 14 year old girl suffers from haemophilia A and chronic knee pain with progressive swelling and deformity over the last 4 years. Test results reveal a significantly reduced factor VIII activity. Which of the following is seen in the knee joint space after an acute painful episode?
Your Answer: Charcot Leyden crystals
Correct Answer: Cholesterol crystals
Explanation: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.
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This question is part of the following fields:
- Haematology And Oncology
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Question 22
Correct
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Which of the following actions will a 2-year-old child with normal developmental milestones be able to perform?
Your Answer: Pull and push large wheeled toys and squat to play with toys on the floor
Explanation:Among the given options a 2-year-old child with normal developmental milestones will be able to pull and push large wheeled toys and squat to play with toys on the floor.Other options:- Bouncing and catching a ball is learnt by the age of 5.- The ability to pedal a tricycle should be attained by 3 years of age, not 2.- A child can walk on tip-toe by 2.5 and run on tip-toe by (option D) 3 years of age, not 2.- The ability to momentarily maintain balance using one leg (option E) should be attained by 3 years.
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This question is part of the following fields:
- Child Development
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Question 23
Correct
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What is the most common cardiac abnormality found in Noonan syndrome?
Your Answer: Pulmonary stenosis
Explanation:Noonan syndrome is one of the most common genetic diseases associated with congenital heart defects, being second in frequency only to Down syndrome.Pulmonary stenosis and hypertrophic cardiomyopathy are generally the most common congenital heart defects found in Noonan syndrome.Pulmonary stenosis is often associated with a thickened and dysplastic valve. It is usually difficult to obtain a satisfactory result using the transcatheter balloon dilatation of such dysplastic valves, so surgical intervention is more likely to be needed.Hypertrophic cardiomyopathy involves predominantly the ventricular septum as asymmetric septal hypertrophy, but may also affect the ventricular free walls. Left ventricular outflow tract obstruction may occasionally be produced.
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This question is part of the following fields:
- Neonatology
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Question 24
Incorrect
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A 14-year-old girl, in diabetic ketoacidosis, is brought to the emergency room with abdominal pain and vomiting. Arterial blood gases show:pH 7.01, pC02: 2.6, HC03:6, BE-19. The ketones are found to be 4.8. Which of the following most likely explains her blood gas analysis?
Your Answer: Mixed metabolic and respiratory acidosis
Correct Answer: Metabolic acidosis with respiratory compensation
Explanation:Diabetes ketoacidosis is one of the most serious and acute complications of diabetes. At the time of presentation and during treatment of diabetic ketoacidosis (DKA), several metabolic and electrolyte derangements can ultimately result in respiratory compromise. Most commonly, hypokalaemia, hypomagnesemia and hypophosphatemia can eventually lead to respiratory muscles failure. Furthermore, tachypnoea, hyperpnea and more severely, Kussmaul breathing pattern can develop. Also, hydrostatic and non-hydrostatic pulmonary oedema can occur secondary to volume shifts into the extracellular space and secondary to increased permeability of the pulmonary capillaries. The presence of respiratory failure in patients with DKA is associated with higher morbidity and mortality. Being familiar with the causes of respiratory compromise in DKA, and how to treat them, may represent better outcomes for patients with DKA.
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This question is part of the following fields:
- Endocrinology
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Question 25
Incorrect
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An 11-year-old boy with a suspected brain tumour displays features of disinhibition. Damage to which of the following areas would most likely result in these findings?
Your Answer: Amygdala
Correct Answer: Right frontal lobe
Explanation:The clinical presentation of the boy suggests the involvement of the right frontal lobe.Psychiatric or behavioural disturbances secondary to frontal lobe lesions exhibit lateralisation. The lesions of the left hemisphere are associated with depression, especially if the lesion involves the dorsolateral portion of the prefrontal cortex. Whereas, lesions of the right hemisphere are associated with impulsivity, disinhibition, and aggression, as it is the case with the child in question.Presenting symptoms of lobar dysfunctions:- Frontal lobe: Contralateral hemiplegia, impaired problem solving, disinhibition, and lack of initiative. Broca’s aphasia and agraphia suggest the involvement of the dominant hemisphere.- Temporal lobe: Wernicke’s aphasia (dominant hemisphere involvement), homonymous upper quadrantanopia and auditory agnosia (non-dominant hemisphere involvement).- Parietal lobe: Anosognosia, dressing apraxia, spatial neglect and constructional apraxia are observed when the non-dominant hemisphere is involved. Gerstmann’s syndrome is observed when the dominant hemisphere is involved.- Occipital lobe: Visual agnosia, visual illusions and contralateral homonymous hemianopia.
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This question is part of the following fields:
- Neurology And Neurodisability
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Question 26
Incorrect
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Congenital cytomegalovirus infection is characterized by which of the following statements?
Your Answer: Antibody tests are used to diagnose congenital CMV
Correct Answer: Periventricular cerebral calcifications are an associated feature
Explanation:One of the most common congenital viral infections is cytomegalovirus infection. The infection is even commoner than the other widely known diseases like down’s syndrome and spina bifida. It is caused by herpesvirus type 5 and is diagnosed using PCR of saliva. The clinical features include failure to thrive, intellectual disability, epilepsy, and microcephaly. The most common clinical complication is sensorineural deafness. The drug of choice for the treatment of neonatal CMV infection is ganciclovir, an anti-viral drug that has shown to prevent deafness. Cytomegalic inclusion disease is diagnosed at birth with marked neurological disability, resulting from microcephaly, intracerebral calcifications, and cerebral atrophy.
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This question is part of the following fields:
- Neonatology
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Question 27
Correct
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Choose the standard method for comparing distributions in data sets (such as between the expected frequency of an event and the observed frequency of an event) from the list of options.
Your Answer: Chi squared (X²) test
Explanation:The Chi-squared test evaluates if two variables are related. The other statistical tests mentioned do not perform this function.
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This question is part of the following fields:
- Epidemiology And Statistics
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Question 28
Incorrect
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A pathologist is examining a histological section and identifies Hassall's corpuscles.With what are they most commonly associated?
Your Answer: Medulla of the spleen
Correct Answer: Medulla of the thymus
Explanation:Hassall’s corpuscles are groups of epithelial cells within the thymic medulla. The physical nature of these structures differs between mammalian species. Although Hassall’s corpuscles have been proposed to act in both the removal of apoptotic thymocytes and the maturation of developing thymocytes within the thymus, the function of Hassall’s corpuscles has remained an enigma.
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This question is part of the following fields:
- Haematology And Oncology
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Question 29
Correct
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A 15-year-old boy is referred to you as his primary physician had incidentally noticed protein in the urine on two occasions when the child came to see him after school. The boy is otherwise healthy and has no signs of oedema or recent infection. The urine dipstick you obtain is negative for protein when you review him in the early morning hours. What is the most likely cause of proteinuria in this child?
Your Answer: Orthostatic proteinuria
Explanation:Based on the clinical presentation, the child probably has orthostatic proteinuria.Orthostatic proteinuria occurs when the kidneys can conserve urine when the patient is recumbent, such as sleeping at night, but leak protein with standing or in exercise. This results in early morning urine being negative for protein but late in the day urine being positive. It is mostly seen in tall thin adolescents and is benign. Other options:- Alport’s syndrome is a hereditary condition associated with haematuria and deafness. – Urinary tract infections can cause proteinuria, but leucocyte esterase and nitrites would also be expected in a child of this age. – Nephritic syndrome can be associated with proteinuria, but haematuria would also be present. – In nephrotic syndrome, proteinuria would be present on all occasions and associated with oedema.
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This question is part of the following fields:
- Nephro-urology
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Question 30
Correct
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A 15-day old baby was brought to the emergency department with constipation for 4 days. On examination, the abdomen of the baby was found to be distended and tender all over. No bowel sounds were heard. A sigmoid colon biopsy was carried out, which showed absent ganglion cells. What is the diagnosis?
Your Answer: Hirschsprung’s disease
Explanation:Hirschsprung’s disease is characterized by congenital absence of the autonomic plexus (Meissner’s and Auerbach’s plexus) in the intestinal wall. Usually limited to the distal colon, it can occasionally involve the entire colon or even the small bowel. There is abnormal or absent peristalsis in the affected segment, resulting in continuous spasm of smooth muscle and partial/complete obstruction. This causes accumulation of intestinal contents and dilatation of proximal segment. Skip lesions are highly uncommon. This disease is seen early in life with 15% patients presenting in first month, 60% by 1 year of age and 85% by the age of 4 years. Symptoms include severe and complete constipation, abdominal distension and vomiting. Patients with involvement of ultra-short segments might have mild constipation with intervening diarrhoea. In older children, symptoms include failure to thrive, anorexia, and lack of an urge to defecate. On examination, an empty rectum is revealed with stool palpable high up in the colon. If not diagnosed in time, it can lead to Hirschsprung’s enterocolitis (toxic megacolon), which can be fulminant and lead to death. Diagnosis involves a barium enema or a rectal suction biopsy. Barium enema shows a transition in diameter between the dilated, normal colon proximal to the narrowed, affected distal segment. It is to be noted that barium enema should be done without prior preparation, which can dilate the abnormal segment, leading to a false-negative result. A 24-hour post-evacuation film can be obtained in the neonatal period – if the colon is still filled with barium, there is a high likelihood of Hirschsprung’s disease. Full-thickness rectal biopsy is diagnostic by showing the absence of ganglion cells. Acetylcholinesterase staining can be done to highlight the enlarged nerve trunks. Abnormal innervation can also be demonstrated by rectal manometry.
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This question is part of the following fields:
- Gastroenterology And Hepatology
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