Past Exam Errors 2 Flashcards

Question

One of two siblings is diagnosed with type 1 (insulin-dependent) diabetes mellitus (IDDM). There is no family history of IDDM. What is the approximate risk that the other sibling will develop IDDM? A. 1%. B. 6%. C. 12%. D. 25%. E. 50%.

Answer 1

A - amplified DNA Southern blot = DNA Northern = RNA Western = protein Southern was first (persons name), then the others (opposite Southern second, then Western). Think DNA->RNA->protein.

Answer 2

C - primum ASD ECG findings ASD: Primum = superior axis, Secundum = RBBB and 1st degree block TA has superior axis as well, but cyanotic lesion.

Answer 3

C - more severe, less variable within families, less likely to be due to new mutations

Answer 4

B - bacterial infection. Causes chemical pneumonitis, as intrauterine environment sterile. MRCPCH - MAS RFs: term or post term, SGA, perinatal asphyxia (fetal distress). Rare in preterms Major effects on lung function: - Airway blockage: increased airway resistence with ball-valve mechanism and gas trapping, high risk of pneumothorax - Chemical pneumonitis - Increased risk of infection: E. coli is most common - Surfactant deficiency: lipid content of meconium displaces surfactant from alveolar surface, PPHN CXR changes begin as patchy infiltration and hyperinflation. A more homogenous opacification of the lung fields develops of 48 hours as chemical pneumonitis becomes a problem. No evidence for routine suction if baby is vigorous and otherwise in good condition.

Answer 5

C - extended spectrum beta lactamase Google searching: ESBL producing bacteria, in order of frequency: - E. coli (67%) - Klebsiella pneumoniae (25%) - Pseudomonas, acinetobacter, enterobacter (8-9% together)

Answer 6

D - drug D with L=7 and T1/2=6 Alison's notes: Clearance=Vd/T0.5

Answer 7

E - weight loss Weight gain is significant side effect of atypical antipsychotics. EPSE are the key SE of typical antipsychotics.

Answer 8

E - thymus The early T cell progenitor (first step in differentiation) migrates from the bone marrow to the thymus. The rest of the T cell development occurs in the thymus, including double negative and double positive stages (referring to CD4 and CD8).

Answer 9

D - pulmonary stenosis Cardiology manifestations of NF1 are pulmonary stenosis and coarctation. Other causes of PS: Noonans (valvular), Williams (peripheral), DiGeorge, Alagille (peripheral), congenital rubella (peripheral). NF1: - chromosome 17, 50% sporadic, variable expression - features:>6 CALM, >2 lisch nodules, auxillary freckling, optic glioma, >2 neurofibroma / 1 plexiform neurofibroma, osseous lesion, first degree relative.

Answer 10

B - activation of T lymphocytes

Answer 11

E - increased serum PTH MRCPCH Autosomal dominant. End organ resistance to raised levels of PTH. Abnormal phenotype of short stature, obesity, ID, round face, short neck, shortened 4th/5th metacarpals. High PTH and phosphate, low calcium.

Answer 12

B - GN diplococcus Notes Neisseria = GN diplococci Others GN coccobacillus - enterobacter (e.g. E coli), Hib, pertussis, pseudomonas, legionella, klebsiella GPB - Diptheria, listeria, clostridia, mycobacteria GPC - staph, strep Inclusion bodies - viral

Answer 13

A - Ts and As Uptodate Obstructive sleep apnea (OSA) is characterized by episodes of complete or partial upper airway obstruction during sleep, often resulting in gas exchange abnormalities and arousals, which disrupt sleep. The condition exists in 2 to 5 percent of children and can occur at any age. Untreated pediatric OSA is associated with behavioral and learning problems; in more severe cases, it can be associated with impaired growth (including failure to thrive) and cardiovascular complications. Early diagnosis and treatment may decrease morbidity. Treatment decisions are individualized and depend upon findings from a comprehensive evaluation, including nighttime sleep disruption, daytime dysfunction, physical examination findings, and sleep study findings. OSA is typically defined by clinically relevant symptoms and an apnea hypopnea index (AHI) >1 or hypoventilation (carbon dioxide >50 mmHg for >25 percent total sleep time) as determined on PSG. Referral to a specialist for adenotonsillectomy evaluation is generally indicated for otherwise healthy children who have OSA and adenotonsillar hypertrophy (including ≥1+ tonsils). For otherwise healthy children with mild or moderate OSA confirmed by PSG (AHI >1 and <10), watchful waiting with supportive care is a reasonable alternative to adenotonsillectomy. For patients with minimal adenotonsillar tissue or a strong preference for a nonsurgical approach, positive airway pressure therapy is an alternative to adenotonsillectomy.

Answer 14

E - SVT Others ALCAPA - STE + inverted T waves aVL, V5, V6, presents 6-8 weeks when PVR drops, unsettled with feeds FTT and cardiomegaly. Dilated cardiomyopathy - multiple transfusions, recent virus, family hx, ECG with evidence of ischaemia, unrecognised tachycardia (exclude ALCAPA on TTE) Hypertrophic cardiomyopathy - history of sudden unexplained death or cardiomyopathy or myopathy, IDM, more suggestive of metabolic cause, ECG with short PR and giant complexes, QRS-T axis dissociation Myocarditis - Long PR, low amplitude QRS / T waves

Answer 15

A - cerebrospinal fluid shunt insertion

Answer 16

C - oral corticosteroids Uptodate Allergic contact dermatitis (ACD) is an acquired, inflammatory reaction of the skin that requires absorption of antigen from the skin surface and recruitment of previously sensitized, antigen-specific T lymphocytes into the skin (delayed type hypersensitivity). Allergic contact dermatitis (ACD) is commonly encountered by the practicing clinician. The most common clinical expression is an eczematous dermatitis that can be mild to severe, acute and short lived, or chronic. The management of ACD is based upon the identification of the offending allergen, avoidance of exposure, use of safe alternatives, and treatment of symptoms. Oral corticosteroids are the first line treatment for ACD involving >20 percent of the body surface area or for acute ACD involving the face, hands, feet or genitalia if quick relief is desired (eg, involvement of the eyelids). Others - Topical corticosteroids are the first line treatment for localized ACD - Adrenaline for anaphylaxis - Because it is T lymphocyte driven, antihistamines have no role

Answer 17

A - ABPA MRCPCH Episodic wheezing, low grade fever, brown sputum, eosinophilia, transient pulmonary infiltrates. Usually in children with CF or asthma. Treat with steroids. Uptodate Allergic bronchopulmonary aspergillosis (ABPA) is a complex hypersensitivity reaction in response to colonization of the airways with Aspergillus fumigatus that occurs almost exclusively in patients with asthma or cystic fibrosis (CF). In chronic cases, repeated episodes of bronchial obstruction, inflammation, and mucoid impaction can lead to bronchiectasis, fibrosis, and respiratory compromise. Although invasive fungal disease is rare in patients with CF, allergic bronchopulmonary aspergillosis (ABPA) is increasingly recognized in CF patients. It can be difficult to distinguish between ABPA and the progressive pulmonary disease that is typical in CF because the symptoms and radiographic features are often similar. In most CF centers, patients are screened with annual evaluation of total serum IgE; a sudden increase should prompt further investigation for possible ABPA. Patients should also be evaluated for ABPA if they have a marked exacerbation of wheezing or otherwise unexplained deterioration in lung function despite antibiotic therapy.

Answer 18

D - TAPVR MRCPCH Pulmonary veins drain to either SVC/innominate vein (supracardiac) or liver/IVC (infracardiac). Uncommon. NOT duct dependent. If obstructed -> presents day 1-7 with cyanosis and collapse. NO MURMUR. Signs of right heart failure, breathless, acidotic. May however present up to 6 months if unobstructed, with murmur or heart failure. ECG normal in neonate. CXR normal or snowman sign. Bronchiolitis - infective features e.g. fever, coryza, very unlikely to have a clear chest. D-TGA with VSD - murmur C - E - cyanotic at birth, heart failure in weeks, bounding pulses, harsh murmur

Answer 19

A - central core myopathy Uptodate. Congenital myopathies are a heterogenous group of hereditary primary muscle disorders that are present from birth, although their onset may be delayed until later in infancy or early childhood. The most common of these rare disorders are nemaline myopathy, central core disease, centronuclear (myotubular) myopathies, and congenital fiber type disproportion. Congenital myopathies share some common features, though severity is highly variable. Affected individuals usually present at birth or in infancy with hypotonia, weakness, hypoactive deep tendon reflexes, delayed motor milestones, and normal intelligence. These conditions are caused by genetic abnormalities of muscle development. Features: neonates, hypotonia+muscle weakness, reflexes present but reduced, predisposition to malignant hyperthermia, usually CK is normal. These days diagnosis is with genetic testing/sequencing. Muscle biopsy stained with NADH is sometimes valuable. Others: - DMD - Myotonia congenita: Defect in chromosome 7, affects chloride channels in muscles, hypertrophy with no weakness, improves with exercise - Nemaline: The characteristic rod bodies are best seen with modified Gomori trichrome staining [13]. With this technique, they appear red against a blue-green myofibrillar background. - SMA: 5q11, regression, proximal myopathy, fasciculations, no reflexes, hypotonia with facial sparing, CK normal

Answer 20

B - hypercholesterolaemia Common side effects are hyperglycaemia, renal impairment/AKI, and neurological e.g. tremors, seizures. Diabetes post transplant is common, multifactorial, and incompletely understood. Other A/E - hyperkalaemia (hyporenin/hypoaldosterone type 4 RTA) - hypersensitivity - HTN - infection - malignancy - hyperkalemia, hypomagnesemia, hyperchloremic metabolic acidosis, hyperuricemia (due to tubular functional alterations)

Answer 21

D - BPD FVC 80-120% = normal. FEV1/FVC = 87.5% which is normal. No reversibility with bronchodilator (needs to be 12%+). Positive histamine challenge (>15-20%). Essentially normal lung function aside from positive histamine challenge. ?Histamine challenge not super valuable: "The percentage of asthmatics with bronchial hyperresponsiveness, i.e. sensitivity to the test, increased towards 100% on inhaling increasing concentrations of histamine, but this was accompanied by a decrease in specificity and predictive values of positive test in regard to the diagnosis of asthma. However, lower concentrations of histamine may be preferable in order to distinguish between asthma and non-asthma in population samples, as inhalation of 2.4 mg.ml-1 and provocative concentration producing a 20% fall in forced expiratory volume in one second (FEV1) (PC20) provided an acceptable sensitivity (57%), specificity (98%), and predictive value of a positive test (60%). We conclude that as regards the diagnosis of asthma, a low predictive value confirms that the bronchial challenge test plays only a supplementary, but valuable, role in detecting the disease in population samples." Given lack of obstructive picture, no responsiveness to bronchodilator, and history of CLD/extreme prem, BPD is most likely.

Answer 22

B - immediate ZIG.

Answer 23

E - SSSS Caused by exotoxin-producing staphylococci. Localised infection becomes widespread after 24-48 hours. Characteristic signs are fever, skin tenderness, marked erythema, bullae, peeling of the skin. Treat with systemic antibiotics (flucloxacillin) and watch fluid balance. A bulla is a fluid-filled sac or lesion that appears when fluid is trapped under a thin layer of your skin. It's a type of blister. Others - impetigo: superficially spreading skin infection characterised by yellow-brown crust. May be bullous. Peaks late summer, common in children <5. Caused by S. aureus or GAS. Treat with oral antis. - epidermolysis bullosa: Epidermolysis bullosa (EB) is a group of inherited diseases that are characterised by blistering lesions on the skin and mucous membranes. These may occur anywhere on the body but most commonly appear at sites of friction and minor trauma such as the feet and hands. In some subtypes, blisters may also occur on internal organs, such as the oesophagus, stomach and respiratory tract, without any apparent friction.

Answer 24

A - variant of normal

Answer 25

A - aspergillus Disorder of impaired intracellular killing of pathogens and hyperinflammatory state (e.g. IBD, granulomatous lesions). Impaired hydrogen peroxide generation and oxidative burst caused by genetic defects of phox protein subunits constituting the phagocytic NADPH oxidase. X-linked form accounts for 2/3. Infections: - severe bacterial, abscesses, osteomyelitis (staph and pseudomonas) - supperative adenitis - pneumonia with pyogenic bacteria, nocardia, aspergillus, burkholderia - OM - non typhoidal salmonellosis - BCG-osis and atypical myobacterial infections Ix: nitroblue tetrazolium / dihydrorhodamine Rx: prophylactic antibiotics and antifungals, steroids for granulomas As per uptodate: - lung infections are most common - most common organism is aspergillus (Staph second most common)

Answer 26

B - bone marrow from a matched unrelated donor Siblings/related always better. Cord blood more compatible.

Answer 27

C - plasma ACTH Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is an autosomal recessive disease caused by mutations in the autoimmune regulator (AIRE) gene, characterized by the clinical triad of chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and adrenal insufficiency. MRCPCH: Autoimmune polyglandular syndrome type 1 = Addison disease, chronic mucocutaneous candidiasis, hypoparathyroidism. In general testing for adrenal insufficiency relies on demonstrating an inability to respond when stimulated, i.e. the synacthen test. A dose of synthetic ACTH is given and cortisol measured after 30 and 60 minutes. A normal response would be a cortisol level >450-500nmol/L at 30 minutes.

Answer 28

C - PA with VSD Cyanotic lesions: PA with VSD, TGA Continuous murmur is from a PDA, however a PDA by itself doesn't cause hypoxia unless there is pulmonary hypertension creating a right to left shunt, otherwise the shunt is left to right hence normal sats. TGA - more profoundly cyanotic (sats in 50s) given separation of circuits. Others - coronary artery fistula: usually asymptomatic, continuous murmur, bounding pulses, not cyanotic - rupture sinus of Valsalva: sudden onset chest pain, signs of severe heart failure and dyspnoea, continuous murmur, more common in Marfans syndrome

Answer 29

C - diencephalic syndrome. Uptodate Diencephalic syndrome is a rare consequence of hypothalamic tumors and is characterized by failure to thrive with severe emaciation but normal linear growth, increased appetite, and hyperactivity. Diencephalic syndrome, a disorder associated with central nervous system tumors, is a rare cause of profound weight loss related to increased energy expenditure but should not be overlooked. Poor weight gain by age as per uptodate for birth-6mo: - Poor quality of suck (whether breast- or bottle-fed) and/or oral motor dysfunction - Improper formula preparation - Breastfeeding problems, including insufficient milk supply - Inadequate number of feedings - Poor feeding interactions (eg, infant gags or vomits during feeding, caretaker misreads signals of hunger or satiety) - Child neglect - Parental mental illness - Metabolic, chromosomal, or anatomic abnormalities - Underfeeding (possibly related to poverty) - Milk protein intolerance - Cystic fibrosis - Congenital heart disease - Gastroesophageal reflux disease Others A - unlikely given cows milk intake with no reflux or diarrhoea B - surely more likely than diencephalic syndrome D - neonatal hyperthyroidism/Graves results from maternal Graves, not mentioned here E - no palpable abdominal mass

Answer 30

B - insert large pleural chest drains. Possibly because no tamponade/pulsus paradoxus? Otherwise would need pericardiocentesis. Uptodate Pulsus paradoxus: Systemic blood pressure is not constant but varies slightly from heart beat to heart beat and between inspiration and expiration. Normally, the systolic blood pressure decreases by less than 10 mmHg during inspiration, but a decline of this magnitude is not detectable on examination of the peripheral pulse. Moderate to severe cardiac tamponade, and occasionally constrictive pericarditis, induce hemodynamic changes that enhance the inspiratory fall in systolic blood pressure. This exaggerated drop in systemic blood pressure during inspiration is termed pulsus paradoxus. For patients without an indwelling arterial catheter, pulsus paradoxus must be measured by the clinician using a manually-operated sphygmomanometer. To measure pulsus paradoxus, a manually-operated sphygmomanometer is employed for blood pressure measurement in the standard fashion except that the cuff is deflated more slowly than usual. During deflation, the first Korotkoff sounds are audible with heart beats occurring only during expiration. With further cuff deflation, Korotkoff sounds become audible on all heart beats throughout the respiratory cycle. The difference between the systolic pressure at which the first Korotkoff sounds are heard during expiration and the pressure at which they are heard throughout the respiratory cycle quantifies pulsus paradoxus. Severe pulsus paradoxus, variably defined as >10 to 20 mmHg, can be palpated in the radial, brachial, or femoral pulses as a weakening or disappearance of the pulse during inspiration. The presence of a pulsus paradoxus greater than 10 mmHg increases the likelihood of tamponade by 3.3-fold, while its absence greatly lowers but does not completely eliminate the possibility of cardiac tamponade.

Answer 31

B - bipolar affective disorder. Not really sure why, can't see anything in the stem about mania or depression. Might be outdated? 2002.

Answer 32

D - APGAR score at 10 minutes

Answer 33

E - osteogenic sarcoma (AKA osteosarcoma).

Answer 34

B - lamotrigine Uptodate Stevens-Johnson syndrome/toxic epidermal necrolysis — Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) is a severe mucocutaneous eruption that is frequently triggered by medications. Allopurinol, certain antiepileptics, antibacterial sulfonamides, and oxicam nonsteroidal anti-inflammatory drugs (NSAIDs) are most frequently implicated. This disorder is characterized by epidermal necrosis and sloughing of the mucous membranes and skin. The amount of skin detachment related to the body surface area is used to distinguish SJS from TEN; detachment affects less than 10 percent of the body surface in SJS and more than 30 percent in TEN.

Answer 35

A - coxsackie B virus. Given CSF results (Gram stain, protein, sugar) in keeping with viral, + heart/lung involvement, group B enteroviruses/coxsackievirus are most common cause. Enterovirus 71 causes HFM, and if involving CNS preferentially targets motor nuclei/anterior horn cells causing paresis. Uptodate Spectrum of disease — More than 90 percent of infections caused by the non-polio enteroviruses are asymptomatic or result only in an undifferentiated febrile illness. When more serious disease occurs, the clinical spectrum and disease severity vary with the age, gender, and immune status of the host. Some clinical syndromes (viral meningitis and some exanthema) are caused by numerous enterovirus serotypes, while others appear limited to specific enterovirus subgroups (eg, hand, foot, and mouth disease [HFM] with enterovirus A71 and some group A coxsackieviruses, and pleurodynia and myocarditis with the group B coxsackieviruses). Central nervous system infections — Acute enterovirus infection of the CNS occurs at all ages. Meningitis is the most common CNS manifestation. Both generalized and focal encephalitis occur less frequently. Certain enteroviruses (ie, polioviruses, enterovirus D68, enterovirus A71) preferentially target the motor nuclei and anterior horn cells of the brainstem and spinal cord, causing acute paresis of cranial and spinal nerves. Viral (aseptic) meningitis — Aseptic meningitis affects persons of all ages but is most commonly observed in infants less than one year of age. The enteroviruses cause more than 90 percent of cases in infants; the majority are due to species B enteroviruses, which include the group B coxsackieviruses and most echoviruses. RCH - CSF interpretation Bacterial: WCC >100 and predominantly neutrophils, usually <100 lymphocytes, protein >1, glucose CSF:blood <0.4 Viral: WCC elevated, predominantly lymphocytes, protein 0.4-1, glucose normal

Answer 36

B - cocaine. ?Outdated. Cocaine crosses the placenta and fetal blood-brain barrier; vasoconstriction is the major purported mechanism for fetal and placental damage. Teratogenic effects have not been definitively proven. Doesn't seem to be definitive evidence that any of the listed drugs increase the risk of birth defects. Uptodate THC/cannabis - Available data do not suggest an increase in congenital anomalies among children born to marijuana users. Amphetamines - Amphetamines and their byproducts cross the placenta. No fetal structural abnormalities have been definitively associated with perinatal amphetamine exposure. Opioids - Multiple obstetric complications have been associated with opioid use disorder in pregnancy. Nothing listed about congenital anomalies of the foetus. Smoking - Although the overall rate of congenital malformations does not appear to be higher among infants born to pregnant individuals who smoke, smoking may increase the risk of specific anomalies. Studies have reported links between maternal smoking and the development of cleft lip with or without cleft palate, gastroschisis, anal atresia, transverse limb reduction defects, cardiac defects, digital anomalies (polydactyly, syndactyly, or adactyly), and bilateral renal agenesis or hypoplasia.

Answer 37

A - dermatomyositis. Other options don't really explain widespread weakness. MRCPCH Non-suppurative myositis with characteristic skin rash and vasculitis. Occurs in girls more commonly. Peak incidence 4-10 years. Features: - muscle pain and occasional tenderness - muscle weakness (limb, girdle, neck, palate, swallowing) - oedema - rash (periorbital heliotrope eruption and oedema) - deep red patches over extensor surface of finger joints (Gottron patches), elbows, kness, ankles - vasculitis, skin ulceration - nailfold and eyelid (dilated capillaries) - retinitis in some - myocarditis with arrhythmias can occur - arthralgia/arthritis with contractures - limited joint mobility - GI dysfunction - pulmonary involvement - calcinosis after 1-2 years Investigations: - MRI shows inflammation - ESR usually normal - serum muscle enzymes elevated - EMG shows denervation/myopathy - biopsy shows inflammation or fibre necrosis and small vessel occlusive vasculitis - ANAs positive in some Prognosis - variable, usually good with adequate treatment Management - PT, splinting - steroids - cytotoxic drugs if required - anti-TNF - careful monitoring essential Others: - Panniculitis refers to a group of conditions characterised by inflammation of the fat layer below the skin (sub-cutaneous fat). - Visceral larva migrans (VLM) is a condition in humans caused by the migratory larvae of certain nematodes, humans being a dead-end host, and was first reported in 1952. Nematodes causing such zoonotic infections are Baylisascaris procyonis, Toxocara canis, Toxocara cati, and Ascaris suum.

Answer 38

B - maternal IVDU Uptodate: Perpetrator features — Limited evidence suggests some common features among perpetrators. Systematic study of mothers who medically abused their children have focused on perpetrators of severe abuse and found the following associations: ●Over 95 percent are female, mostly mothers or primary caretakers, although cases of collusion with other caregivers, including male members of the household have been described ●History of factitious or somatoform disorders ●History of unfortunate childhoods (eg, deprivation and abuse) ●Past history of self-harm, alcohol or drug abuse, and criminal activity

Answer 39

A - blood from a sheep incubating bovine spongiform encephalopathy was able to cause the disease when transfused into another sheep.

Answer 40

A - bruxism Uptodate: Sleep-related bruxism involves activation of the masticatory muscles, resulting in tooth clenching and grinding during sleep. The prevalence of bruxism during sleep peaks in childhood and progressively declines with age. Although often asymptomatic, frequent bruxism may become clinically significant when it interferes with sleep or results in tooth wear or jaw discomfort. Based largely on cross-sectional survey studies and self-report, sleep-related bruxism affects 15 to 40 percent of children. RCH: At 4 years of age, nearly 1 in 3 children wets the bed, but this falls to about 1 in 10 by age 6.

Answer 41

B - germinoma. Even without the image bhCG is a bit of a giveaway. MRCPCH Tumours derived from germ cells can be gonadal (30%) or extragonadal (70%). Extragonadal sites are the sacrococcygeal region, retroperitoneum, mediastinum, neck, and pineal area of the brain. Gonadal tissue can give rise to any cell type, so tumours express any cell line in any stage of differentiation. Presenting features vary with site of original. Occasionally endocrinology-related pathology with abnormal or precocious puberty. Serum markers alpha-fetoprotein and beta-human chorionic gonadotrophin are useful in diagnosing and monitoring disease state.

Answer 42

D - ophthalmological assessment. ?SWS -> glaucoma. MRCPCH Sturge Weber syndrome - glaucoma 50% before the age of 2 - choroidal haemangiomas 40% Uptodate: The predominant ocular abnormality of SWS is glaucoma (increased intraocular pressure), which occurs in 30 to 70 percent of affected patients. Therefore, we suggest ophthalmology referral and follow-up for all patients presenting with SWS and for all infants and children presenting with a capillary malformation involving the upper and lower eyelids and/or extensive lesions in the frontotemporal region (V1 and V2 segments). Sturge-Weber syndrome (SWS) is a rare congenital vascular disorder characterized by facial capillary malformation (port wine stain) and associated capillary-venous malformations affecting the brain and eye. It is not a heritable disorder. Thus, recurrence is unlikely. SWS is characterized by a facial capillary malformation, also known as a port wine stain, and an associated leptomeningeal capillary-venous malformation (leptomeningeal angioma) involving the brain and eye. These vascular malformations are associated with specific neurologic and ocular abnormalities. The neurologic features of SWS may be progressive and include seizures, focal neurologic deficits, and intellectual disability. Visual field defects are common when the occipital cortex is affected. These manifestations occur with variable severity. Hydrocephalus also may occur. This complication is thought to result from increased venous pressure caused by thrombosis of the deep venous channels or extensive arteriovenous anastomoses. A small proportion of patients have no neurologic abnormalities. Ocular features of SWS include glaucoma and capillary-venous vascular malformations of the conjunctiva, episclera, choroid, and retina.

Answer 43

A - diabetes mellitus. Others less likely as essentially asymptomatic. Uptodate Cystic fibrosis-related diabetes mellitus — CFRD is a common cause of nutritional decline in individuals with CF and is also associated with declines in pulmonary function; treatment with insulin attenuates or reverses these effects. The prevalence of CFRD rises markedly with age, so that CFRD affects approximately 15 percent of adolescents with CF and almost 50 percent of adults over age 30 years. Patients with CF should be screened for CFRD using periodic oral glucose tolerance testing starting at 10 years of age. Others - Patients with pancreatic insufficiency characteristically have frequent, bulky, foul-smelling stools that may be oily. Older children may also report that their stools float or stick to the toilet bowl (reflecting their high fat content). - Acute exacerbations with cough, tachypnea, dyspnea, increased sputum production, malaise, anorexia, and weight loss - Occasionally, individuals with CF may develop subacute or chronic hypovolemia with hyponatremia, hypochloremia, hypokalemia, and metabolic alkalosis (sometimes known as pseudo-Bartter syndrome). In contrast with Bartter syndrome, urinary chloride excretion is low. This condition is caused by excessive loss of sodium and chloride in sweat and may develop in CF patients with inadequate sodium intake.

Answer 44

A - degree of weight loss at presentation MRCPCH Good prognosticators - younger age at onset (?but not prepubertal...) - less denial - improved self-esteem Poor prognosticators - parental conflict - bulimia - coexisting behavioural disorders

Answer 45

D - FISH for deletion on chromosome 15p ?Prader Willi Syndrome MRCPCH Hypotonia in neonates: - Central causes: encephalopathy, IVH, infection, T21/13/18, structural brain abnormalities, metabolic disease, drugs, PWS, hypothyroidism, kernicterus (early) - Spinal cord lesions: trauma, tumours, cysts, vascular malformations - NMD: SMA, congenital myotonic dystrophy, congenital myopathies, myasthenia gravis PWS - clinical: neonatal hypotonia and poor feeding - moderate learning disability - hyperphagia and obesity later in childhood - small genitalia - 70% deletion on paternal chromosome 15

Answer 46

D - persistent heavy proteinuria Rapidly progressive GN — Rapidly progressive glomerulonephritis (RPGN) is a clinical syndrome manifested by features of subacute nephritic syndrome with a progressive loss of kidney function over a comparatively short period of time (days, weeks, or months). It is characterized morphologically by extensive crescent formation. RPGN occurs rarely in children. Causes of pediatric RPGN include: ●Primary GN – IgA nephropathy, MPGN, and anti-glomerular basement membrane (GBM) disease ●Secondary GN – Antineutrophil cytoplasmic autoantibody (ANCA)-associated vasculitis, lupus nephritis, poststreptococcal GN, IgAV (HSP) nephritis Early diagnosis with kidney biopsy and serologic testing, and early initiation of appropriate therapy are essential to minimize the degree of irreversible kidney injury. Empiric therapy may be started in patients with severe disease, particularly if either kidney biopsy or interpretation of the biopsy will be delayed. However, despite aggressive treatment, approximately half of the affected children will develop end-stage kidney disease (ESKD).

Answer 47

B - anxiety disorders Uptodate: Anxiety disorders are the most common psychiatric disorders with onset in childhood, with prevalence estimates ranging from 10 to 30 percent. The reported prevalence of ADHD in children varies from 2 to 18 percent depending upon the diagnostic criteria and the population studied (eg, primary care versus referral). The prevalence in school-age children is estimated to be between 9 and 15 percent, making it one of the most common disorders of childhood. MRCPCH Depression - 2-3/100 teenagers Anorexia - 1% Conduct disorder - 4%, but strong male predominance

Answer 48

E - teicoplanin and red man syndrome RMS is due to vancomycin - direct activation of mast cells.

Answer 49

C - periportal fibrosis - a manifestation/association of cystic fibrosis. ADPKD Uptodate Nonrenal manifestations — Clinical manifestations that involve nonrenal organs include: ●Cardiac abnormalities – A study from the previously mentioned prospective cohort reported increased left ventricular mass index in children with blood pressure above the 75th percentile for age, sex, and height prior to any observed increase in kidney volume. In addition, another study from the same group reported a 12 percent incidence of mitral valve prolapse in children with ADPKD compared with only 3 percent of unaffected children. ●Cysts in other organs – Magnetic resonance (MR) studies have shown the presence of hepatic cysts in 55 percent of patients before the age of 25 years. However, pancreatic, ovarian, intestinal, and splenic cysts are rarely observed in children. ●Cerebral aneurysms – Aneurysmal rupture in childhood resulting in a subarachnoid or intracerebral hemorrhage is extremely rare and screening is not recommended in children.

Answer 50

E - TB meningitis

Answer 51

B - E test. Google: "The highest test that the child is capable of performing should be used; in general, the tumbling E chart should be used for children aged 3 to 5 years and Snellen letters or numbers for children aged 6 years and older." Wikipedia An E chart, also known as a tumbling E chart, is an ophthalmological chart used to measure a patient's visual acuity. This chart is useful for patients who are unable to read the Latin alphabet – for example, very young children. It is also used in countries where people do not use the alphabet in their native language – for example, in China. It contains rows of the letter "E" in various kinds of rotation. The patient is asked to state (usually by pointing) where the limbs of the E are pointing, "up, down, left or right." Depending on how far the patient can "read", his or her visual acuity is quantified. It works on the same principle as Snellen's distant vision chart. Others - Cover testing is the gold standard objective method for determining the presence, type, and magnitude of ocular misalignment (strabismus) (cover each eye and see if the uncovered eye moves/realigns) - Red reflex test is for neonates - Snellen chart too young - Toy matching test younger than this ?toddlers

Answer 52

D - IgG. In this way we calculated the half-life of IgM as 2 days, IgG3 and IgG1 as 6-8 days, IgG2b has a half-life of 4-6 days. IgE has a half-life of 12 h. A polymeric form of IgA was found to be eliminated from the serum with a half-life of 17-22 h

Answer 53

B - impairment of renal excretion Methotrexate is excreted primarily by the renal route. Renal dysfunction can cause delayed methotrexate elimination, which can result in a marked increase in hematological and nonhematological toxicity, and may delay subsequent therapy. We found that patients receiving allopurinol had a significantly lower median methotrexate clearance and were more likely to experience methotrexate-induced mucositis than were those receiving urate oxidase. The decrease in methotrexate clearance in patients treated with allopurinol may be explained by a weaker hyporuricemic effect of allopurinol, leading to precipitation of uric acid in renal tubules.

Answer 54

D - staph aureus Uptodate Mastitis and breast abscess are less common in infants ≥2 months than in younger infants. Most cases of mastitis and breast abscess in infants are caused by Staphylococcus aureus. Less common causes include gram-negative enteric organisms (eg, Escherichia coli, Salmonella), anaerobes, and group B Streptococcus (Streptococcus agalactiae). The pathogenesis of infant mastitis typically involves spread of pathogenic bacteria from the skin and/or mucous membranes to the breast parenchyma through the nipple. In infants younger than two months, the main consideration in the differential diagnosis of mastitis is physiologic breast hypertrophy, which resolves spontaneously. In contrast to mastitis, physiologic breast hypertrophy usually is bilateral and symmetric; the breasts are neither erythematous nor tender; if present, the nipple discharge is milky rather than purulent and does not contain polymorphonuclear white blood cells or bacteria on Gram stain.

Answer 55

E - polysomnography

Answer 56

D - production of beta lactamase

Answer 57

B - intelligence quotient

Answer 58

C - thumb abduction Median nerve - flex wrist - pronate - thumb abduction, opposition, flexion - also innervates first two lumbricals (flex MCP joint with extension at IP joints)

Answer 59

A - aberrant left pulmonary artery. Left pulmonary artery courses between trachea and oesophagus. Double arch - bilateral compression oesophagus, anterior compression trachea Anomalous innominate artery - right brachiocephalic artery arises distally and tracks back across front of trachea, therefore normal oesophagus but anterior compression of trachea Aberrant right subclavian artery - right subclavian artery arises distally and swings behind oesophagus, therefore normal trachea indented oesophagus

Answer 60

C - HSV MRCPCH Acute self-limiting onset of symmetrical fixed red papules, some of which form target lesions. May blister. Can show Koebner phenomenon. May involve lips, buccal mucosa, tongue. Causes - infections: HSV, Mycoplasma, EBV, chlamydia - drugs: sulfonamides, penicillin - collage disease: SLE, polyarteritis nodosa - malignancy Uptodate Erythema multiforme (EM) is an acute, immune-mediated condition characterized by the appearance of distinctive target-like lesions on the skin. These lesions are often accompanied by erosions or bullae involving the oral, genital, and/or ocular mucosae. A variety of factors have been implicated in the pathogenesis of EM. The disorder is most commonly induced by infection, with herpes simplex virus being the most frequent precipitator. The clinical course of EM is usually self-limited, resolving within weeks without significant sequelae. Infections (viral, bacterial, or fungal) account for approximately 90 percent of cases.

Answer 61

B - high cardbohydrate intake

Answer 62

E - visual reinforcement audiometry. 6mo-2yrs. ABR for babies. Kendall toy testing for >2yo. Tympanometry tests compliance of tympanic membrane, not hearing acuity. Primarily used to check for glue ear.

Answer 63

D - PEEP Uptodate ●Ventilation – CO2 clearance is largely determined by minute ventilation, which in turn is determined by the frequency and size of breaths (ie, respiratory rate [RR] and tidal volume [Tv]). In volume-targeted modes, Tv is a setting and is controlled by the ventilator. In pressure-limited modes, Tv is determined by other settings (inspiratory pressure and inspiratory time [Ti]) and will vary depending upon lung compliance, with compliant lungs having higher Tvs at any given inspiratory driving pressure compared with less compliant lungs. ●Oxygenation – Oxygenation is primarily determined by the fraction of inspired oxygen (FiO2) and the mean airway pressure (MAP). In CMV, MAP is largely determined by the set PEEP since the expiratory phase usually predominates the respiratory cycle. Other settings (ie, Tv, inspiratory pressure, and Ti) influence MAP to a lesser extent.

Answer 64

ECG shows WPW with short PR, wide QRS, T wave inversion/opposite to QRS. E - normal anatomy

Answer 65

B - eosinophils Special role in allergic disease and defence against parasites, and removal of fibrin formed during inflammation.

Answer 66

E - unemployed single parent

Answer 67

D - valproate See other card

Answer 68

E - vancomycin Strep pneumo resistance is mediated through altered penicillin binding proteins.

Answer 69

A - apical mid-diastolic murmur Parks An apical diastolic rumble is present with a moderate-large shunt, caused by an increased flow through the mitral valve during diastole.

Answer 70

B - functional residual capacity

Answer 71

B - dexamphetamine

Answer 72

E - Na normal, K low, Ca high K and H move in opposite directions, hence giving sodium bicarb for hyperkalaemia. Acidosis therefore causes hypokalaemia. Acidosis also increases bone resorption, to mobilise buffers from bony matrix, therefore increasing calcium -> urinary calcium elevated.

Answer 73

E - septicaemia Uptodate Staphylococcal toxic shock syndrome (TSS) is a clinical illness characterized by rapid onset of fever, rash, hypotension, and multiorgan system involvement. Manifestations of multiorgan system involvement include gastrointestinal symptoms (abdominal pain, vomiting, and/or watery diarrhea), myalgias, mucous membrane (vaginal, oropharyngeal, or conjunctival) involvement, renal involvement, hepatic involvement, thrombocytopenia, and neurologic symptoms (headache, somnolence, confusion, irritability, agitation, hallucinations). Other manifestations include cyanosis and edema of the extremities. Detection of S. aureus in culture is not required for the diagnosis of staphylococcal TSS. S. aureus is recovered from blood cultures in approximately 5 percent of cases. Streptococcal TSS – Streptococcal TSS typically presents with pain that precedes physical findings of infection. At the site of minor trauma (such as a bruise, strained muscle, or sprained ankle), patients may develop deep infection such as necrotizing fasciitis or myonecrosis, often with no visible break in the skin. The diagnosis of streptococcal TSS consists of hypotension and isolation of streptococci from a normally sterile site, together with two or more findings including renal dysfunction, coagulopathy liver dysfunction, acute respiratory distress syndrome, rash, and/or soft tissue necrosis. Blood cultures are positive for GAS in approximately 60 percent of cases. ●Toxic shock syndrome – Streptococcal and staphylococcal toxic shock syndromes are toxin-mediated systemic bacterial infections that can mimic SSSS. The inciting infections are usually a localized abscess, pyomyositis, or superinfection of a retained foreign body, such as tampons or surgical packing. Typical findings include widespread, blanchable, cutaneous erythema; conjunctival injection; "strawberry tongue;" fever; and hypotension. Unlike SSSS, there is a lack of periorificial crusting on the face, absent bullae or desquamation, and a negative Nikolsky sign. Acral skin peeling or desquamation can occur but usually appears several days after the onset of symptoms

Answer 74

C - EoE MRCPCH EoE is an important differential diagnosis of GOR that presents with similar symptoms but fails to respond to conventional acid blockade therapy. In older children, dysphagia and food impaction can occur. It is more commonly seen in patients with atopy or family history of atopic disease. Diagnosis is based on characteristic endoscopic findings/histology. Skin prick testing and RAST are not generally informative. Treatments include dietary elimination, steroids, immunosuppressants. Natural history is of relapse and remission and chronicity.

Answer 75

C - the adolescent

Answer 76

D - 50% Hasn't inherited delta F508 but 50% chance of inheriting the other allele.

Answer 77

C - imipramine (a TCA, also anticholinergic) ``` Anticholinergic = agitation, dry, mydriasis (Dilated pupils), fever, hallucination TCA = convulsions, coma, QT prolongation ``` ``` Codeine = opiate = resp depression, miosis (constricted) Verapamil = CCB = heart block, hypotension, insulin resistance and hypoglycaemia ```

Answer 78

A - administer interferon alfa subcut - out of date question. Uptodate High-risk/complicated hemangiomas that require treatment include large hemangiomas at increased risk of scarring or disfigurement (eg, large or segmental hemangiomas, facial hemangiomas), life-threatening hemangiomas (eg, airway hemangiomas), hemangiomas carrying functional risks (eg, periocular hemangiomas), and hemangioma ulceration that does not respond to standard wound care. Propranolol — Propranolol, a nonselective beta blocker, is the first-line agent for hemangiomas with the potential to impair function or cause permanent disfigurement, if there are no cardiac or neurovascular concerns. Systemic corticosteroids — Treatment with systemic corticosteroids for complicated hemangiomas has been largely supplanted by systemic beta blockers. However, systemic corticosteroids remain a treatment option for patients with complicated hemangiomas for whom treatment with beta blockers is contraindicated. Vincristine and interferon alfa — Vincristine and interferon alfa are alternative systemic agents for the treatment of complicated hemangiomas but are rarely used since the advent of propranolol. Surgical therapies — When a hemangioma poses primarily cosmetic concerns, therapeutic intervention must be tailored on an individual basis. In addition to systemic, topical, and intralesional medications, therapeutic options include laser therapy and surgery. Cautery, irradiation, and cryotherapy may produce more scarring than untreated lesions and are thus not generally recommended.

Answer 79

E - Yersinia enterocolitica. Wikipedia Siderophilic bacteria are bacteria that require or are facilitated by free iron. They may include Vibrio vulnificus, Listeria monocytogenes, Yersinia enterocolica, Salmonella enterica (serotype Typhimurium), Klebsiella pneumoniae and Escherichia coli. One possible symptom of haemochromatosis is susceptibility to infections from these species.

Answer 80

C - Diamon Blackfan anaemia Congenital erythroid aplasia. Generally presents in infancy, most <12 months old. Normochromic macrocytic reticulocytopenic anaemia, associated with congenital malformations (50% and classically thumbs), increased risk of malignancy (AML, MDS), and endocrine dysfunction (e.g. short stature). Ribosomopathy -> activates TP53 pathway. BMAT -> normal cellularity with reduced erythroid precursors. Differentials: TEC (usually older and preceded by viral illness), other marrow failure syndromes.

Answer 81

E - tuberculosis

Answer 82

E - spontaneous rebleed Uptodate Traumatic hyphema, or blood in the anterior chamber, is a common complication of blunt or penetrating injury to the eye and can result in permanent vision loss. The goals of initial assessment include recognition and characterization of the hyphema and identification of associated orbital and ocular injuries. If ruptured globe is suspected, then emergent consultation with an ophthalmologist is critical. In addition, optimal outcome following a hyphema depends on early ophthalmologic intervention focused on prevention of rebleeding and avoidance of intraocular hypertension. In most instances, patients recover with normal vision. Vision loss is more likely in patients with large hyphemas, sickle hemoglobinopathy/trait, or bleeding disorders. ●Rebleeding – Secondary hemorrhages usually result in hyphemas that are larger than the initial injury and can markedly increase the risk of vision loss.

Answer 83

D - haloperidol

Answer 84

C - insert a nasopharyngeal airway MRCPCH Cleft lip and palate is often diagnosed antenatally on US scanning. It can be associated with Pierre Robin sequence (as in this case, micrognathia and flossoptosis), other dysmorphic syndromes (Stickler, Edwards), or in isolation. Certain antiepileptic medications are associated with increased risk. Issues - Cosmetic: cleft lip is repaired early at 2-3mo - Feeding: special teats, palatal plate, may be associated oropharyngeal incoordination and aspiration of feeds, cleft palate surgery is usually performed at 1yo - Speech and hearing: frequent AOM, glue ear - Airway obstruction: if d/t Pierre Robin sequence some infants require a nasopharyngeal tube to maintain patency of the upper airway

Answer 85

A - admit her to hospital, informing her parents that you are doing so because of adolescent issues

Answer 86

B - frog leg x-ray RCH guideline Pelvis AP or frog leg view is useful for identifying SUFE, DDH (>6 mo), Perthes disease and common pelvic avulsions.

Answer 87

D - qualitative PCR for HIV DNA

Answer 88

D - large ovarian cyst on pelvic ultrasound ?McCune Albright syndrome. Uptodate: McCune-Albright syndrome — McCune-Albright syndrome is a rare disorder defined as the triad of peripheral precocious puberty, irregular café-au-lait ("coast of Maine") skin pigmentation, and fibrous dysplasia of bone. MAS should be considered in females with recurrent formation of follicular cysts and cyclic menses. The skin manifestations and bone lesions may increase over time. In females presenting with vaginal bleeding, the ovarian enlargement has often been mistaken for an ovarian tumor, leading to unnecessary oophorectomy. Females presenting with premature vaginal bleeding should therefore be evaluated for features of MAS to avoid this potential mistake. The clinical phenotype varies markedly, depending on which tissues are affected by the mutation, but precocious puberty is the most commonly reported manifestation. As in other forms of peripheral precocity, the sequence of pubertal progression may be abnormal, in that vaginal bleeding often precedes significant breast development. Prolonged exposure to elevated levels of sex steroids may cause accelerated growth, advanced skeletal maturation, and compromised adult height. Although the precocious puberty is typically peripheral precocity, a secondary component of CPP may develop because of sex steroid withdrawal leading to activation of the hypothalamic-pituitary-gonadal axis. In males with MAS, while sexual precocity is less common, there is a high prevalence of testicular pathology on ultrasound, including hyper- and hypoechoic lesions (most likely representing areas of Leydig cell hyperplasia), microlithiasis, and focal calcifications. Patients with MAS have a somatic (postzygotic) mutation of the alpha subunit of GNAS, which encodes the Gs protein that activates adenylyl cyclase. This mutation leads to continued stimulation of endocrine function, including precocious puberty, thyrotoxicosis, growth hormone excess (gigantism or acromegaly), Cushing syndrome, and renal phosphate wasting (hypophosphatemic rickets) in various combinations. Mutations can be found in other nonendocrine organs (liver and heart) resulting in cholestasis and/or hepatitis, intestinal polyps, and cardiac arrhythmias, respectively. A heightened risk of malignancy has also been reported. Germline occurrences of this mutation would presumably be lethal

Answer 89

E - vit E deficiency Bile deficiency -> impaired fat soluble vitamin absorption. Vitamin E deficiency: neuropathy, ataxia, retinal degeneration, haemolytic anaemia.

Answer 90

B - CT of the facial sinuses

Answer 91

C - cardiac arrhythmia Exercise induced syncope - need to think about cardiac causes.

Answer 92

E - MRI brainstem and cervical cord Stem states non-obstructive desaturation, so not related to OSA/tonsils (answer A which I chose). Essentially describing central apnoea. Uptodate complications of achondroplasia ●Sleep-disordered breathing and sleep apnea – Midface retrusion in conjunction with adenoid and tonsil enlargement can reduce the airway space, leading to obstructive sleep apnea (OSA) and sleep-disordered breathing. OSA is clinically manifested by loud snoring, breath holding during sleep (apnea), poor sleep, poor school performance, and behavioral problems in some cases. Sleep apnea can also be central in patients with cervicomedullary compression. ●Cervicomedullary compression – One area of controversy in achondroplasia is the prevalence and management of cervicomedullary compression due to narrowing of the foramen magnum. It is estimated that 5 to 10 percent of patients with achondroplasia develop true cervical medullary stenosis even though some degree of narrowing occurs in many more. Cervicomedullary compression is associated with significant morbidity and mortality, including an increased risk of sudden infant death. The maximum anatomical narrowing occurs at approximately 12 months of age. Thus, all infants should have computed tomography (CT) or MRI of the cervical medullary junction for surveillance around that time. Signs of narrowing of the cervical medullary junction should be closely followed, but rushing to surgical intervention should be avoided in the absence of other clinical findings. Warning signs for compression include motor delay that is more severe, persists in time, or is associated with an abnormal neurologic exam. Other concerning findings include clonus, hyperreflexia of the lower limbs, central apnea/hypopnea, and a rapidly growing head circumference. A thorough evaluation should be performed to rule out cervicomedullary compression, and urgent referral to a neurosurgeon should be initiated if any of these findings are present. It is best if these evaluations and surgical decisions involve a multidisciplinary team including geneticists, orthopedists, neurologists, and neurosurgeons. This evaluation includes a complete neurologic assessment, CT scan of the head with foramen magnum measurements, cerebrospinal fluid (CSF) flow studies of the cervical spine done with MRI with flexion-extension images and sleep studies to assess sleep apnea. Most groups do not recommend routine CT or MRI studies.

Answer 93

B - enterovirus 71. Febrile seizure, oral lesions, weakness. HHV-6 is the most common cause of febrile seizures but shouldn't cause neurology. Enterovirus 71 causes HFMD and acute paresis/flaccid myelitis. Uptodate Infection — Viral infections are commonly identified in association with febrile seizures, whereas bacterial infections are infrequent. Febrile seizures are not thought to be viral specific, but rather dependent upon the degree of temperature elevation. Viral infections associated with high fever, such as human herpesvirus 6 (HHV-6) and influenza, appear to pose the highest risk. HHV-6 is the virus most frequently associated with febrile seizures in the United States. Certain enteroviruses (ie, polioviruses, enterovirus D68, enterovirus A71) preferentially target motor nuclei within the brainstem and spinal cord, causing acute paresis of cranial and spinal nerves. The syndrome of acute motor neuron weakness (also known as acute flaccid paralysis or acute flaccid myelitis [AFM], among other terms) has been reported with many enterovirus serotypes, but only a small number are associated with endemic and epidemic paralysis: poliovirus types 1, 2, and 3, enterovirus D68, and enterovirus A71. Enterovirus 71-associated acute flaccid myelitis is distinguished by a common association with concurrent HFMD and occasional myoclonus, ataxia, and autonomic instability that may represent brainstem encephalitis. In young children, a severe form of enterovirus 71 brainstem encephalitis accompanied by noncardiogenic pulmonary edema and leading to a rapidly fatal course may occur.

Answer 94

E - Zellweger syndrome MRCPCH Presents in neonatal period. High forehead, patent fontanelles. Severe hypotonia and poor sucking/swallowing. Very poor subsequent neurological development. Often a/w cerebral gyral abnormalities. Peroxisomal disorder. Spectrum with Zellweger, neonatal adrenoleukodystrophy, Refsum disease. Peroxisome function: synthesis of plasmalogens, cholesterol, bile acids, beta-oxidation of VLCFA and breakdown of phytanic acid (vitamin A) and flyoxylate. AR inheritance. First line investigation is VLCFA.

Answer 95

A - IV aciclovir. Fluclox ineffective. Bioavailability ~60%.

Answer 96

SYSTEMIC ANTIFUNGAL AGENTS The four different classes of antifungal agents used to treat invasive neonatal candidiasis are: ●Polyenes – Polyenes include amphotericin B deoxycholate, which is the preferred antifungal agent for most invasive neonatal Candida infections. ●Triazoles – The most commonly used triazole in neonates is fluconazole. ●Nucleoside analogues – The most commonly used nucleoside analogue in neonates is flucytosine. It is sometimes used in combination with amphotericin B in neonates with central nervous system (CNS) infections. ●Echinocandins – Echinocandins include caspofungin, anidulafungin, and micafungin. These drugs are not routinely used for neonatal Candida infections. Amphotericin B — Amphotericin B deoxycholate is the preferred drug for treatment of most systemic neonatal Candida infections. Most Candida species are susceptible to amphotericin B, and this drug is efficacious and well tolerated in neonates. Fluconazole — Fluconazole, a first-generation triazole, is an alternative to amphotericin B in some infants, if the isolate is susceptible. Fluconazole has several advantages: ●Excellent therapeutic levels throughout the body including the CSF ●Excellent agent for the treatment of Candida UTI because it is excreted unchanged in high concentrations into the urine ●Excellent bioavailability when taken orally, potentially reducing the need for intravenous administration The major disadvantage of this agent is the emergence of fluconazole-resistant Candida species. Thus, fluconazole should not be used as the agent for initial treatment of an infant with candidemia or suspected candidemia. It should be given only after identifying the Candida species and determining that the organism is sensitive to fluconazole.

Answer 97

E - meningitis

Answer 98

C - C3 Classical = antigen-antibody complexes, C1/2/4 then activate C3. Alternate = direct activation by microbes (molecules on pathogen surface), direct activation of C3. Lectin pathway = sugar residues and mannose, MBL, C2/4

Answer 99

D - reversible binding of carbon monoxide to cytochrome A3. Uptodate Carbon monoxide (CO) is an odorless, tasteless, colorless, nonirritating gas formed by hydrocarbon combustion. The atmospheric concentration of CO is generally below 0.001 percent, but it may be higher in urban areas or enclosed environments. CO binds to hemoglobin with much greater affinity than oxygen, forming carboxyhemoglobin (COHb) and resulting in impaired oxygen transport and utilization. CO can also precipitate an inflammatory cascade that results in CNS lipid peroxidation and delayed neurologic sequelae. Carbon monoxide (CO) diffuses rapidly across the pulmonary capillary membrane and binds to the iron moiety of heme (and other porphyrins) with approximately 240 times the affinity of oxygen. Nonsmokers may have up to 3 percent carboxyhemoglobin at baseline; smokers may have levels of 10 to 15 percent. Once CO binds to the heme moiety of hemoglobin, an allosteric change occurs that greatly diminishes the ability of the other three oxygen binding sites to off-load oxygen to peripheral tissues. This results in a deformation and leftward shift of the oxyhemoglobin dissociation curve, and compounds the impairment in tissue oxygen delivery. CO also interferes with peripheral oxygen utilization. Approximately 10 to 15 percent of CO is extravascular and bound to molecules such as myoglobin, cytochromes, and NADPH reductase, resulting in impairment of oxidative phosphorylation at the mitochondrial level. CO also interferes with peripheral oxygen utilization by inactivating cytochrome oxidase in a manner similar to, but clinically less important than, cyanide. The effects of CO on oxygen delivery and utilization, however, cannot account for the delayed neurologic sequelae (DNS) that may occur after CO poisoning. The mechanism of DNS is incompletely understood. Carboxyhaemoglobin concentrations: - 10% not normally a/w symptoms - 10-30% headache, dyspnoea - 60% coma, convulsions, death Treatment is with 100% oxygen. Hyperbaric oxygen works quicker, and is generally indicated with levels >25% (20% if pregnant), loss of consciousness, severe metabolic acidosis pH <7.1, evidence of end organ ischaemia (ECG changes, chest pain, altered mental status).

Answer 100

E - valproate Mnemonic - inhibitors: sickfaces.com - inducers: BS CRAP Inhibitors (when in doubt, think of an azole): - S: sodium valproate - I: isoniazid - C: cimetidine - K: ketoconazole (lots of azoles) - F: fluconazole - A: alcohol (acute), amiodarone - C: chloramphenicol, ciprofloxacin - E: erythromycin - S: sulphonamides - C: cranberry juice, grapefruit juice - O: omeprazole - M: metronidazole Inducers: - B: barbiturates - S: st johns wart, sulphonylureas - C: carbamazepine - R: rifampicin - A: alcohol (chronic) - P: pheonbarb, phenytoin

Answer 101

D - sample size calculation

Answer 102

E - urate oxidase (rasburicase is a recombinant version of urate oxidase). Wikipedia MOA: Rasburicase catalyzes enzymatic oxidation of poorly soluble uric acid into an inactive and more soluble metabolite allantoin with carbon dioxide and hydrogen peroxide as byproducts in the chemical reaction. Need to check G6PD as causes haemolysis.

Answer 103

D - interferon

Answer 104

C - turner syndrome

Answer 105

D - place a heat shield over the infant

Answer 106

E - increasing sedentary behaviour

Answer 107

C - deficiency of anti Mullerian hormone

Answer 108

B - hypocalcaemia

Answer 109

B - 2% Need to use prevalence to set up the table, i.e. 0.1% = 1 in 1000 people with the disease, so start there. True positive = 1, false negative = 0, hence sensitivity is 100%. True negatives = 950 with false positives 50 hence specificity is 95%. This leaves PPV = 1/50 = 0.02.

Answer 110

D - hypocalcaemia. Hyperkalaemia ECG: peaked T waves -> PR prolongation -> wide QRS VT -> terminal VF Hypokalaemia: ECG on seen in severe hypokalaemia, U waves, T wave flattening, ST depression -> VT/VF, long QT and Torsades Hypocalcaemia: ECG - prolongation of ST segment and QT interval -> VT Hypercalcaemia: ECG - shortened QTc, Osborn or J wave

Answer 111

E - 400 mL of glucose 20% plus 60 mL of intravenous lipid 20%.

Answer 112

B - olanzapine EPSE generally more common with typical/first gen antipsychotics (haloperidol). Weight gain generally a common SE for atypical/second gen (olanzapine, quetiapine, risperidone). Olanzapaine is the worst.

Answer 113

B - closely linked together at a genomic locus Google: A haplotype is a set of DNA variations, or polymorphisms, that tend to be inherited together. A haplotype can refer to a combination of alleles or to a set of single nucleotide polymorphisms (SNPs) found on the same chromosome.

Answer 114

D - 28 Google: For total IgG, the half-life found was 25.8 days; for IgG1 it was 29.7 days; for IgG2 it was 26.9 days; and for IgG3 it was 15.7 days.

Answer 115

E - no additional benefit demonstrated

Answer 116

C - lung elastic recoil

Answer 117

A - adoption studies

Answer 118

C - increase SVR decrease PVR

Answer 119

B - greater severity of problem behaviour

Answer 120

C - interleukin 3 IL1 - produced by macrophages, causes fever, cachexia, angiogenesis, activates immune cells IL2 - produced by Th1 cells, causes proliferation and immune cell activation IL4 - p/b Th2 cells and mast cells, B cell class switching to IgE, proliferation IL6 - p/b T cells and macrophages, T and B cell proliferation and differentiation, fever

Answer 121

B - ecstasy ?Wrong, ecstasy causes: agitated, flushed, sweaty, DILATED pupils ?Depression managed by psychiatrist referring to TCA? 2004B paper. TCA overdose: convulsions, coma, prolonged QRS, DILATED pupils Constricted pupils: opiates, organophosphates, clonidine Dilated: amphetamines, atropine, TCA, antihistamine

Answer 122

E - strep pneumoniae Susceptibility is to pneumococci, Haemophilus, and Salmonella, due to multiple causes e.g. splenic dysfunction, defective complement activation, tissue ischaemia, micronutrient deficiency. ?Due to background, need to assume not vaccinated against Strep pneumo and Hib, and also not on prophylaxis, so Strep is most likely?

Answer 123

A - IV adrenaline Follow the algorithm

Answer 124

E - incontinentia pigmenti. X linked dominant, usually lethal in males. Initially erythematous, papuler, vescular or bullous lesions on trunk and limbs, then pustular lesions then pigmented lesions. Vesicular lesions in first 48 hours, verrucous lesions, streaky pigmentation and then atrophic pale lesions. Associated with other abnormalities: skeletal, eye (30%), CNS (30-50%, seizures, encephalopathy), and dentition (80%). Gene: NEMO

Answer 125

C - acute vestibular neuritis. Normal hearing = neuronitis, hearing loss = labyrinthitis. Vestibular neuritis — Vestibular neuritis, also known as vestibular neuronitis and labyrinthitis, is believed to be a viral or postviral inflammatory disorder, affecting the vestibular portion of the eighth cranial nerve. Vestibular neuritis is characterized by the rapid onset of severe, persistent vertigo, nausea, vomiting, and gait instability. Physical examination findings are consistent with an acute peripheral vestibular imbalance: spontaneous vestibular nystagmus, a positive head impulse (or head thrust) test, and gait instability without a loss of the ability to ambulate. In pure vestibular neuritis, auditory function is preserved; when this syndrome is combined with unilateral hearing loss, it is called labyrinthitis. A diagnosis of vestibular neuritis is usually based on clinical information. The clinical features of cerebellar hemorrhage or infarction may be similar to vestibular neuritis, and brain imaging is therefore often required to rule this out. Patients with vestibular neuritis generally suffer from severe vestibular symptoms for a few to several days, followed by a gradual diminution of symptoms and a return of equilibrium. Recovery may be improved with corticosteroid therapy.

Answer 126

C - 5% Google: Birth defects are common. Between 2% and 3% of infants have one or more defects at birth. That number increases to 5% by age one (not all defects are discovered directly after your child's birth). One out of every 33 babies born in the United States are affected by birth defects.

Answer 127

C - GOR. Much more common than TOF (this could really only be H type and that's not common). MRCPCH Occurs as a result of the failure of development of the primitive foregut. Incidence ~1 in 3000. 85% blind proximal oesophageal pouch with a distal oesophageal to tracheal fistula, 10% with oesophageal atresia and no fistula, 5% with proximal +/- distal fistula Clinical: - polyhydramnios - excessive salivation - early resp distress - abdominal distension - vomiting/choking on feeds - inability to pass NGT - absence of gast in gut if no fistula - other anomalies (VACTERL) - prematuriy common H-type - much less common - usually not a/w preterm birth or other severe anomalies - may have delayed presentation with resp distress a/w feeding or recurrent LRTIs

Answer 128

D - neutrophils Unclear to me what the diagnosis is. Cyclic neutropenia p/w (cyclic pattern) stomatitis, oral ulcers, bacterial infections. LAD p/w (among other things e.g. delayed umbi separation) periodontitis and recurrent orogenital infections.

Answer 129

C - recombinant activated factor 7. Essentially in the setting of a high titre of inhibitor, unlikely to be overcome by increased dose of the normal factor, therefore need a "bypass product", e.g. activated factor 7 (means the clotting cascade can be activated without the missing factors). Uptodate Overview of patient with an inhibitor — Management of bleeding or surgery in a patient with an inhibitor (neutralizing alloantibody against infused factor) is especially challenging because inhibitors bind to the infused factor and render it ineffective. Inhibitors are much more likely to occur in individuals with hemophilia A and those with severe disease. Some patients may only become aware that they have an inhibitor in the midst of an acute bleeding episode or surgery, when factor infusions no longer raise factor activity levels to the expected range or if there is an allergic/anaphylactic reaction to the infusion. Inhibitors are diagnosed and classified by titer using the Bethesda assay, in which serial dilution of patient plasma is used to determine an inhibitor titer in Bethesda units (BU). Inhibitors with a titer of <5 BU despite repeated factor infusions are referred to as low-responding inhibitors. Any inhibitor ≥5 BU/mL at any time is considered high responding, even if the titer subsequently becomes undetectable due to lack of re-exposure. Classically, high-responding inhibitors rapidly increase upon re-exposure to infused factor in an anamnestic response that takes four to seven days. Individuals with an inhibitor titer of ≥5 BU and those with an unknown titer but with a known high-responding inhibitor are less likely to be effectively treated with factor infusions in an emergency situation because the quantity of circulating antibody is likely too great to be overcome by factor infusion. ●For patients with a high-responding inhibitor whose current titer is <5 BU, it may be possible in some circumstances to treat them with factor coverage; this decision should only be made in consultation with a comprehensive hemophilia treatment center as anamnesis is expected. ●For a patient with a titer ≥5 BU with a high-responding inhibitor and serious bleeding with a need for major surgery, a bypassing product is used. Bypassing products (rFVIIa products or FEIBA) — A bypassing product is generally the first choice in a patient with hemophilia A or B who has a high titer inhibitor and requires treatment for bleeding or surgery. These clotting factor products contain an activated form of a clotting factor in the coagulation cascade. Activated factor VII (factor VIIa) can directly activate factor X, bypassing the need for factors VIII and IX.

Answer 130

A - backslab and review 1 week RCH fracture guidelines: Buckle injury: Below-elbow fibreglass/plaster backslab or removable wrist splint for 3 weeks Check that both cortices are intact on the anteroposterior (AP) and lateral x-ray. Provide parent with buckle injury fact sheet. No follow-up by GP or fracture clinic is required. No follow-up x-ray is needed Complete - undisplaced or minimally displaced fractures Refer to acceptable angulations (5-10yrs <15 degrees) Below-elbow cast for 6 weeks Fracture clinic within 7 days with x-ray

Answer 131

A - aneurysm of the vein of Galen Google: A vein of Galen malformation (VOGM) is a type of rare blood vessel abnormality inside the brain. In VOGM, misshapen arteries in the brain connect directly with veins, instead of connecting with capillaries, which help slow blood flow. This causes a rush of high-pressure blood into the veins. This extra pressure in the veins can cause a number of problems: The rush of blood toward the heart and lungs forces the heart to work overtime to get blood to the rest of the body. This can lead to congestive heart failure in some infants. Blood pressure in the arteries from the heart to the lungs may rise, causing a serious condition called pulmonary hypertension. The high pressure in the veins can prevent the infant’s brain from draining adequately. This can lead to widespread brain injury and sometimes causes severe loss of tissue in the brain. Some infants can develop hydrocephalus an enlarged head) if the VOGM blocks the normal flow of fluid in the brain. If not diagnosed and treated early, VOGM can cause severe problems and may even be life threatening.

Answer 132

D - sweat test Antiendomysial antibody (old question) for coeliac, doesn't explain the electrolytes. Serum and urine osmolality ?for DI, but no hx polyuria/dipsia etc. Serum 17 OH progesterone is screening for 21 hydroxylase deficiency, the most common cause of CAH. Too old. Urinary sodium and potassium ?again because no urinary history to suggest renal issue.

Answer 133

A - Ig and defer MMR until usual time. Old question and now incorrect. As per immunisationhandbook.health.gov.au: Normal human immunoglobulin is indicated for any immunocompromised patient or any patient who has not received a measles vaccination and is younger than 6 months of age, within 72 hours of exposure (and only if the mother is incompletely vaccinated or seronegative). For this patient: Give MMR vaccine now, then repeat dose at 12 months of age or 4 weeks later (whichever is later). Give MMRV vaccine at 18 months of age, with a minimum interval of 4 weeks after the previous dose of MMR vaccine. MMR usually given at 12 months and 18 months.

Answer 134

A - acqueductal stenosis BIH/IIH should have normal parenchyma and ventricles on MRI.

Answer 135

B - depersonalisation

Answer 136

B - AIN. ?Fanconi syndrome (urine positive for protein, glucose, serum hypokkalaemia...). Uptodate Acute interstitial nephritis (AIN) is a renal lesion that typically causes a decline in kidney function and is characterized by an inflammatory infiltrate in the kidney interstitium [1]. It is most often induced by drug therapy. AIN is also caused by autoimmune disorders or other systemic disease (eg, systemic lupus erythematosus [SLE], Sjögren's syndrome, sarcoidosis), a variety of infections remote to the kidney (eg, Legionella, leptospirosis, and streptococcal organisms), and tubulointerstitial nephritis with uveitis (TINU) syndrome. he distribution of causes of AIN has been reported as follows: ●Drugs – 70 to 75 percent (with antibiotics responsible for approximately 30 to 50 percent of these cases) ●Systemic disease including sarcoidosis, Sjögren's syndrome, systemic lupus erythematosus (SLE), and others – 10 to 20 percent ●Infections – 4 to 10 percent ●Tubulointerstitial nephritis and uveitis (TINU) syndrome – less than 5 percent Classically, patients with drug-induced AIN were reported to have symptoms and/or signs of an allergic-type reaction, including rash, fever, and eosinophilia. However, in a more recent review of three series that totaled 128 patients with AIN (of whom 70 percent had drug-induced disease), these findings of a typical allergic response were relatively less common at presentation: ●Rash – 15 percent ●Fever – 27 percent ●Eosinophilia – 23 percent ●Triad of rash, fever, and eosinophilia – 10 percent Signs of tubulointerstitial damage, such as the Fanconi syndrome and renal tubular acidosis, may be present but rarely dominate the clinical picture.

Answer 137

E - self induced vomiting (like hypertrophic pyloric stenosis, hypokalaemic hypochloraemic metabolic alkalosis). Bartter syndrome: D/T inborn autosomal recessive defect in sodium, potassium, chloride cotransporter in loop of Henle -> NaCl and water wasting. Polyuria, polydipsia, dehydration, faltering growth, constipation. RAAS activation retains Na at the expense of K and H. Leads to hypochloraemic hypokalaemic alkalosis. Urine chloride and sodium are inappropriately high (>20).

Answer 138

D - oesophagus at the cricoid.

Answer 139

B - discitis. 2004B.

Answer 140

A - appetite suppression

Answer 141

A - decreased lung compliance

Answer 142

C - dihydroergotamine (contraindicated in hemiplegia migraines).

Answer 143

E - viral arthritis. White cell differential goes against bacterial, as does lymphadenopathy, and symptoms are relatively mild (should be extremely painful to move a septic joint).

Answer 144

C - gradual exposure to school

Answer 145

E - HSV. Too old for HFM.

Answer 146

B - cough Uptodate Group A Streptococcus (GAS), also known as Streptococcus pyogenes, is the most common cause of bacterial pharyngitis in children and adolescents. GAS is a facultative, gram-positive coccus that grows in chains. The only known reservoirs are the skin and mucous membranes of the human host. GAS is the most common cause of bacterial pharyngitis in children and adolescents. It accounts for 15 to 30 percent of all cases of pharyngitis in children between the ages of 5 and 15 years. Children ≥3 years — In children ≥3 years, GAS pharyngitis typically has an abrupt onset. Fever, headache, abdominal pain, nausea, and vomiting may accompany the sore throat, which can lead to poor oral intake. Additional features may include exudative tonsillopharyngitis, with enlarged erythematous tonsils, enlarged tender anterior cervical lymph nodes, palatal petechiae, inflamed uvula (uvulitis), and scarlatiniform rash (erythematous, finely papular rash which characteristically starts in the groin and axilla and then spreads to the trunk and extremities, followed by desquamation). Symptoms usually resolve spontaneously in three to five days.

Answer 147

A - HIV. As a learning point, HIV should be excluded prior to the diagnosis of SCID (similar presentation of faltering growth and spectrum of infectious pathogens). Hyper IgM - IgA should be low due to inability to class switch. SCID - lymphocytes should be low. Lymphopenia and hypogammaglobulinaemia. Wiskott Adrich - PID, eczema, thrombocytopenia. X-linked agammaglobulinaemia - no immunoglobulin, IgM and IgA should be low.