2009 remembered Flashcards

Question

``` Which of the following may recur in a transplanted liver? A. Neonatal haemochromatosis B. Methylmalonic acidaemia C. Primary sclerosing cholangitis D. Wilson’s disease ```

Answer 1

C. Primary sclerosing cholangitis PSC recurs in 20% post-transplant

Answer 2

E. Decrease publication bias Drug companies are not publishing all the trial data that they submit to the FDA, and those trials that are published are more likely to show positive results. Rising et al. compared all the New Drug Applications (NDAs) (the vehicle for initiating a new clinical trial) given to the FDA in 2001 and 2002 to subsequent published literature. They found that only about 3/4 of the trials were later published in journals, and those that were published were 5 times as likely to show favorable results for the drug being tested by the drug company as those that were not:

Answer 3

C. Radial ulnar synostosis VACTRL Fifty percent of infants are nonsyndromic without other anomalies, and the rest have associated anomalies, most often associated with the VATER or VACTERL (vertebral, anorectal, [cardiac], tracheal, esophageal, renal, radial, [limb]) syndrome. These syndromes generally are associated with normal intelligence.

Answer 4

A. Panhypopituitarism Newborn screening measures TSH and retests those with high TSH. The cut-off is 15 apparently TSH based screening misses central causes of hypothyroidism, however this is rare and may present with other symptoms of panhypopit or midline defects.

Answer 5

C. Haemophagocytic lymphohistiocytosis Hemophagocytic Lymphohistiocytosis • Familial (25%) and secondary forms – similar presentation - familial form usually children <4 years but secondary form can present at an older age • Can be secondary to viruses (EBV, CMV, HHV-6, HHV-8, VZV, HSV, HIV, parvovirus, adenovirus); bacterial/fungal/spirochetal infections; malignancy; AI disorders (SLE, RA, PN); transplant recipients • Presentation: o Fever (90%), maculopapular/petechial rash (40%), weightloss, irritability o Respiratory distress o CNS involvement: aseptic meningitis (50%) o Hepatosplenomegaly (80-90%), lymphadenopathy (40%) o Severe immunodeficiency • Cytokine dysfunction→ uncontrolled accumulation of activated T-lymphocytes and activated histiocytes (macrophages) in many organs o Haemophagocytosis seen in bone marrow • Diagnosis: fever + splenomegaly + lab findings o Hyperlipidaemia, hypofibrinogenaemia, elevated transaminases, extremely elevated levels of CD25 (circulating IL-2 receptors released by activated lymphocytes), very high levels of serum ferritin (often >10000), cytopenias (esp pancytopenia; from hemophagocytosis in the BM), low/absent NK cells • Treatment: treat underlying infection, supportive care. Rx: immunoochemotherapy, hematopoietic cell transplant best cure. Bad prognosis • FHLH is ultimately fatal without allogenic stem cell transplant; in contrast, secondary HLH has excellent prognosis IF an infection is identified but poor prognosis if it is not found

Answer 6

A. Tetralogy of Fallot ``` The most common cardiac anomalies include:  TOF (25%)  interrupted aortic arch (15%)  VSD, usually perimembranous  malaligned VSD (15%)  persistent truncus arteriosus (9%)  isolated aortic arch anomalies (5%).  Less common anomalies include pulmonary stenosis, ASD, AV canal defect, and transposition of the great arteries. ```

Answer 7

??E. Abdominal trauma ?head injury (hypertension, bnut otherwise normal obs) Hypovolemia is the most common cause of shock in the pediatric trauma patient, and its early recognition and treatment are critical during trauma resuscitation. Compensated shock occurs when there has been significant blood loss, but the blood pressure has been maintained by tachycardia and vasoconstriction. Uncompensated shock manifests with hypotension in addition to tachycardia. Tachycardia is usually the first sign of hypovolemia in the child. Due to the physiologic reserve in children, blood pressure may be maintained despite a loss of up to 45 percent of the circulating blood volume. Therefore, the trauma patient who is cool and tachycardic should be considered to be in shock until proven otherwise.

Answer 8

A. Euphoria ADHD core symptoms of - Inattention, hyperactivity and impulsivity - present > 6 months - present more than one setting (e.g school and home) - result in significant impairment in daily living - some symptoms must begin < 7 years of age (diagnosis difficult < 4 years) Subtypes: predominantly inattention, predominantly hyperactive-impulsive BIPOLAR DISORDER - Alternating mania and depression (can be frequent cycling) - Often begins in adolescence (family history important) - Features of mania/elevated mood: o Inflated self esteem o Decreased need for sleep o Increased talk/pressure speech o Flight of ideas, racing thoughts o Distractable o Goal directed acitivity – social, work, sexual o High risk pleasurable activities

Answer 9

C) Pompe’s disease * glycogen storage disease (build of glycogen in lysosymes). * Hypotonia, weakness and areflexia. * Cardiomyopathy (huge heart). * Big liver and tongue too. * CK↑. * Myopathic EMG. * Treatment is enzyme replacement.

Answer 10

B. Load with phenobarbitone As per AMH, steady-state plasma concentration may not be achieved for 2–4 weeks, maybe even longer in neonates. This patient is symptomatic – needs more drug in system quickly.

Answer 11

C. Irradiated Group O, Rhesus negative platelets from single donor Anthean Greenway • Must be rh negative – most important. Risk of antiD • Irradiation due to risk of GVHD risk • Platlets used to be in plasma but now a different medium and not in plasma • Thinks answer C • Should be single donor – important because of HLA sensitisations Email from Gemma Creighton the haem reg: I would avoid any Rhesus positive platelets as, she is Rhesus negative and risk of Rhesus immunisation by giving RH positive products. I'd definitely not want to do that. In practice I would avoid the O platelets, as they contain small amounts of anti-A and anti-B, but sometimes you can't. Often Red Cross titres the amount of anti-A and anti-B and can potentially give low titre product. A single donor is less risk of exposure to anti- A than a pooled donor unit. Need to give irradiated products as receiving chemo and nucleoside analogues - see irradiation info - if interested. So would give (C) - hope that agrees with what the answer is.

Answer 12

A. Increase the FiO2 - higher PIP mainly drop CO2, decondarily increase O2 (due to increased lung recruitment) - increase I time = increase oxygenation may also increase CO2 Transport Physiology On fixed- or certain rotary-wing transports, the patient may suffer adverse physiologic effects from altitude. With increasing altitude, the barometric (atmospheric) pressure decreases and gases expand. As the barometric pressure drops and gas expands, the partial pressures of ambient oxygen (PO2) and, consequently, arterial oxygen (PAO2) decrease. For example, at 8,000 feet—an elevation at which unpressurized airplanes may fly, as well as the effective cabin altitude for many pressurized airplanes flying at 35,000 to 40,000 feet—the barometric pressure, PO2, PAO2, and arterial oxygen saturation fall to 565 mm Hg, 118 mm Hg, 61 mm Hg, and 93%, respectively. (In comparison, the barometric pressure, PO2, PAO2, and arterial oxygen saturation are 760 mm Hg, 159 mm Hg, 95 mm Hg, and 100% at sea level.) Although healthy individuals usually tolerate these changes well, patients with respiratory insufficiency, significant blood loss, or shock may decompensate and should receive supplemental oxygen. Gases expand 10-15% at the few thousand feet at which helicopters typically fly, and approximately 30% at 8,000 feet. Gases within the body itself also expand as the altitude increases. Gas expansion must be appreciated during transport via air of a patient with a pneumocephalus, pneumothorax, bowel obstruction, or another condition involving entrapped gas. Prior to transport, a pneumothorax should be decompressed, and a nasogastric tube inserted for ileus.

Answer 13

D. Increase hydrocortisone Treatment of congenital adrenal hyperplasia with hydrocortisone and fludrocortisones Defective conversion of 17-hydroxyprogesterone to 11-deoxycortisol accounts for more than 95 percent of cases of congenital adrenal hyperplasia [1]. This conversion is mediated by 21-hydroxylase. Therapy of CYP21A2 deficiency is directed toward providing glucocorticoid in sufficient doses to reduce the excessive corticotropin-releasing hormone (CRH) and corticotropin (ACTH) secretion and hyperandrogenemia, so that growth, sexual maturation, and, later, reproductive function, are normal. In patients with the salt-losing form of the disorder, mineralocorticoid is given to restore serum electrolyte concentrations, and extracellular fluid volume to normal. These goals can be difficult to achieve without overtreatment, and its attendant risk of growth retardation and other clinical manifestations of Cushing's syndrome Glucocorticoid replacement is necessary in children who have classic CYP21A2 deficiency and in symptomatic patients with nonclassic CYP21A2 deficiency. The goal of therapy is to replace deficient steroids while minimizing adrenal sex hormone and glucocorticoid excess. Glucocorticoid is usually administered as hydrocortisone (cortisol) in a dose of 12 to 18 mg/m2 body surface area per day. Doses are greater than normal cortisol levels. For older adolescents and adults, long-acting glucocorticoids such as dexamethasone or prednisone are the preferred treatment. When given at bedtime, these drugs effectively suppresses ACTH secretion for much of the next day. However, the longer duration of action and greater potency of dexamethasone may increase the risk of overtreatment, Mineralocorticoid replacement is necessary in patients who have the classic form of CAH, whether or not it is the salt-losing form. Mineralocorticoid is given as fludrocortisone, in a dose sufficient to restore normal serum sodium and potassium concentrations. Excessive dosing can induce hypertension, hypokalemia, and possibly, impaired growth, while underdosing also can lead to poor growth with failure-to-thrive. In addition, inadequate mineralocorticoid replacement may lead to increased adrenal androgen production. This is because patients may be chronically volume depleted, which is clinically inapparent but results in persistent overproduction of renin and angiotensin II. Angiotensin II can stimulate early steps in the steroidogenic pathway, leading to higher adrenal androgen synthesis. For all of these reasons, mineralocorticoid therapy may benefit patients with either the classic salt-losing form or the classic non-salt-losing (simple virilizing) form of CYP21A2 deficiency. The usual pediatric dose of fludrocortisone is 0.05 to 0.20 mg per day. Infants with the salt-losing form of CYP21A2 deficiency may require higher doses of fludrocortisone (occasionally up to 0.30 mg per day) and also require sodium chloride supplementation of 1 to 3 g per day (about 17 to 51 mEq per day). Response to therapy is monitored by measuring serum 17-hydroxyprogesterone, androstenedione, plasma renin activity or direct renin, as well as growth velocity and the rate of skeletal maturation. Blood samples for monitoring therapy should be obtained at a consistent time in relation to glucocorticoid dosing, optimally in the morning to reflect peak concentrations. A serum 17-hydroxyprogesterone concentration of 400 to 1200 ng/dL (12-36 nmol/L) with serum androstenedione concentrations appropriate for the patient's age and sex, measured in the morning before the glucocorticoid is taken, is a reasonable target. The serum tests serve as markers of the adequacy of treatment and of patient adherence to it, and along with the growth record provide the basis for adjustments in the doses of hydrocortisone. Simply adjusting the glucocorticoid dose to normalize the serum 17-hydroxyprogesterone value is insufficient because of the risk of iatrogenic Cushing syndrome and since androgen excess may persist because of avid adrenal conversion of 17-hydroxyprogesterone to androgens. Plasma renin activity should be in the normal range for age. In patients with salt-losing and continued androgen excess, fludrocortisone and salt tablets dose should be adjusted to normalize renin before increasing the glucocorticoid dose.

Answer 14

A) Botulism toxin mech: inhibition of acetylcholine release into synaptic junction Acute, flaccid paralysis caused by the neurotoxin produced by Clostridium botulinum - Suspect in children 2–9 months of age with constipation and rapid onset of weakness, particularly with ophthalmoplegia and The toxin blocks neuromuscular transmission and causes death through airway and respiratory muscle paralysis. Botulinum toxin is carried by the bloodstream to peripheral cholinergic synapses, where it binds irreversibly, blocking acetylcholine release and causing impaired neuromuscular and autonomic transmission./respiratory weakness. The most striking epidemiologic feature of infant botulism is its age distribution: in 95% of cases the infants are between 3 wk and 6 mo of age, with a broad peak from 2 to 4 mo of age. • Uncommon and often unrecognised. Identified risk factors for the illness include breast-feeding, the ingestion of honey, and a slow intestinal transit time (<1 stool/day) * Botulinum toxin is distributed hematogenously. Because relative blood flow and density of innervation are greatest in the bulbar musculature, all forms of botulism manifest neurologically as a symmetric, descending, flaccid paralysis beginning with the cranial nerve musculature. It is not possible to have botulism without having multiple bulbar palsies: poor feeding, weak suck, feeble cry, drooling, and even obstructive apnea * In infants, usually, the 1st indication of illness is a decreased frequency or even absence of defecation, although this sign is frequently overlooked. Parents typically notice inability to feed, lethargy, weak cry, and diminished spontaneous movement. Dysphagia may be evident as secretions drooling from the mouth. Gag, suck, and corneal reflexes diminish as the paralysis advances. Oculomotor palsies may be evident only with sustained observation. Paradoxically, the pupillary light reflex may be unaffected until the child is severely paralyzed, or it may be initially sluggish. Loss of head control is typically a prominent sign. Respiratory arrest may occur suddenly from airway occlusion by unswallowed secretions or from obstructive flaccid pharyngeal musculature

Answer 15

B) octreotide For prophylaxis: o Vasopressin (or analogue, e.g. DDAVP) has been commonly used, and is though to act by increasing splanchnic vascular tone and thus decreasing portal blood flow. (Vasopressin’s use may be limited by side effects of vasoconstriction, such as impaired cardiac function and perfusion to the heart, bowel and kidneys.) o GTN (skin patch) has also been used to decrease portal pressure. o The somatostatin analogue octreotide decreases splanchnic blood flow with fewer side effects. Propranolol for long term treatment in adults (limited evident in children)

Answer 16

D. Maudsley method of family therapy * RCH tends to talk about Family Therapy (Maudsley Method) and not favour medications as heavily * Generally speaking, CBT and medications show more benefit in bulimia and binge eating and have been disappointing in anorexia Maudsley Method - Family Therapy (but involves aspect of CBT and Parents take control of refeeding their child in a structured manner • Priority given to providing adequate calories • Goal-structures and behavioural expectations such as eating 100% of food and achieving a rate of weight gain with contingencieas if goals not achieved. • Promising results in adolescents • There is a transition from parental control to adolescent taking control

Answer 17

A. Empty tonsillar bed

Answer 18

E. Systemic onset juvenile chronic arthritis.

Answer 19

D. Anticipation The mother is nearly always affected in congenital myotonic dystrophy but previously diagnosed in only half of all cases Myotonic dystrophy: premutation carriers (50-150 rpts) have cataracts and mild myotonia - Myotonic dystrophy – CTG,CTG,CTG - Progressive wasting of distal muscles (esp hand intrinsic muscles and thenar/hypothenar eminences) – ie EXCEPTION to prox>distal rule for most myopathies. Prox mm involved later as disease progresses. - Also assc with cataracts, early male baldness, low IgG, intellectual impairment, endocrinopathies (thyroid, addisons, DM, early/late puberty, testicular atrophy/T deficiency, male infertility) - Arrhythmias but not cardiomyopathy. Myotonic dysptrophy • AD (triplet repeat) • hypotonic from birth (↓fetal movements, polyhydramnios), ± arthrogryphosis • facial weakness, difficulty feedings and respiratory difficulties • distal > proximal weakness (unusual for a myopathy) • myotonia about 5yo • reflexes OK (cf SMA) • cataracts • 50% have ↓ IQ • Endocrine abnormalities (low thyroid, adrenals, pancreas, testosterone) • Cardiac conduction defects (don’t tend to develop cardiomyopathy unlike other myopathies) • Neonatal form is more severe with generalised weakness including respiratory

Answer 20

B. Behavioural management

Answer 21

D) Congenital lobar emphysema ``` Location -LUL -RML/RUL -<10% lower lobes (hyperlucent, hyperexpanded) ``` Clinical - present in the 1st 2 weeks of life - tachypnoea Treatment - symptomatic: resect - asymptomatic: conservative Notes: - dilatation of 1 lobe - 50% cause unknown - 25% obstruction (ball-valve mechanism)

Answer 22

E. Eosinophilic oesophagitis Eosinophilic oesophagitis • Most common in Caucasian males • Hx of atopy in 50%, pos atopic fhx in 75% • Sx: feeding disorders (median age 2.0), vomiting (median age 8.1), abdominal pain • (median age 12.0), dysphagia (median age 13.4), and food impaction (median age 16.8) • Ix: serum eos usually normal, IgE can be slightly high • characteristic clinical features and large numbers of eosinophils in the esophagus on pathologic examination (≥15 eosinophils per high powered [400x] field in at least one specimen) despite acid suppression with a PPI for one to two months. The criteria also include normal gastric and duodenal mucosal biopsies and the exclusion of other causes. • Rx: cortisone, PPI, esophageal dilatation, elimination diet (? assoc with food allergy) • Prognosis: probably persists into adulthood, 10% developed tolerance to food allergies Achalasia: • 1:100000 (usually 25-60y) • Disease of unknown cause in which there is a loss of peristalsis in the distal esophagus and a failure of lower esophageal sphincter (LES) relaxation. • Symptoms of achalasia are due primarily to the defect in LES relaxation → functional obstruction of the esophagus that persists until the hydrostatic pressure of the retained material exceeds the pressure generated by the sphincter muscle • Insidious onset, gradual progression of sx. • Dysphagia for liquids most strongly suggests diagnosis! • Dx: barium swallow (dilated esophagus that terminates in a beak-like narrowing), fluoroscopy, manometry o (3 characteristic manometric features of achalasia: elevated resting lower esophageal sphincter (LES) pressure (above 45 mmHg); incomplete LES relaxation after a swallow (S); aperistalsis in the smooth muscle portion of the body of the esophagus. Swallows may elicit no esophageal contraction or may be followed by simultaneous contractions. The esophagus may also contract spontaneously in a simultaneous fashion. In some cases, the simultaneous esophageal contractions have amplitudes >60 mmHg, a condition known as "vigorous" achalasia.) • Rx: Medical (nitrates, Ca channel blockers, Botox), Dilatation of LES, myotomy

Answer 23

D. CH50 & CH100

Answer 24

B. Small numbers of people exposed to high levels of particulate matter The confidence limits are widest at highest levels because there are very few women in the study who have had this level of exposure. Confidence limits narrow with increased number of observations or decreased variance

Answer 25

A. Hirsutism

Answer 26

A. Reduce dietary sodium Dietary measures to reduce urinary calcium excretion include the following: - Low-sodium diet enhances sodium and calcium renal tubular reabsorption, thereby reducing urinary calcium excretion. - Dietary calcium is not restricted - Vitamin D supplementation is avoided because elevated serum calcitriol (1,25-dihydroxyvitamin D3) levels can enhance urinary calcium excretion Thiazide diuretics should be considered in a child or adolescent with recurrent calcium stones if dietary measures over a three to six month period fail to reduce urinary calcium levels. Thiazide diuretics (ie, chlorothiazide or hydrochorothiazide) enhance sodium and calcium reabsorption in the distal renal tubule leading to a reduction in urinary calcium excretion

Answer 27

?C. Muipirocin

Answer 28

D) propanolol Torsade de Pointes almost pathognomic for long QT Congenital Long QT syndromes • Congenital LQTS due to ion pump mutations, most commonly (1,2,4 6) affect the outflow of K, so can’t re-polarise efficiently  long QT o Long QT 3 is excessive sodium inward current • 25% are sporadic, otherwise mostly AD, some AR • History difficult to distinguish between seizure and cardiac syncope o Clues: syncope or seizure after upset, exertion of exposure to water / swimming o ECG on first presentation of seizure • Mortality is high if untreated (20% in year after first episode, 50% in 10 years) • The actual QT interval is not predictive of risk of death • Ventricular bigeminy in known long QT = impending torsades! • Risk Factors: Deaf, Sx in infancy, history of cardiac arrest, long QT on ECG at rest o ECG at rest may miss prolonged QT (in 5-10%) so need to do exercise ECG Management • Risk stratification possible on basis of QTc, sex, age and genotype • Beta blockers: ↓PR response to exercise. Are mainstay of therapy, most patients will be asymptomatic and Sudden Cardiac Death rate drops dramatically (to 4%). Titrate to maximum tolerated dose • PM if become brady on b-blockers • ICD if not managed on b-blockers (repeated syncope) or cardiac arrest.

Answer 29

A. Prophylaxis isoniazid for 3 months and then a repeat mantoux * High risk exposure * If knew at birth would do the same thing * If mantoux positive at 3 months – give total 6 months isonazid and rpt cxr. Continue to monitor if baby well * SE: isoniazid = peripheral neuropathy. Give B6 to reduce SE. (don't usually give B6 to kids as often have adequate stores but in baby probably would) * Don't vaccinate as want to be able to interpret mantoux * Baby this age would not be symptomatic even if they had respiratory TB. Need to monitor carefully clinically and with CXR * TB can be congenital infection too

Answer 30

? E. Pelvic Ultrasound

Answer 31

C. 1800mL Maintenance: 10kg child @ 100ml/kg/day = 1000ml Deficit: 8% x 10kg = 800ml Hence need to replace 1800ml over 24 hours – answer D

Answer 32

B, staph aureus * Staph causes up to 50% - most common * Next: Strep pneumonia * Next: Haemophilus influenzae * Next: Group A strep

Answer 33

E. Administer DDAVP Already meets criteria for DI. Need to assess whether central/peripheral Diabetes insipidus is present when the serum osmolality is raised (>295milliOsmol/kg) with inappropriately dilute urine (urine osmolality < 700milliOsmol/kg). The serum sodium is often elevated due to excess free water losses.

Answer 34

D. 120 min In Australia, the current recommendation is for no more than 2 hours of screen time per day for children, with screen time not recommended for children under 2 years. We recommend that children aged under 2 years not routinely be given screen time unless video chatting, and that children aged 2 to 5 years only be exposed to 1 to 2 hours of high quality programming per day.

Answer 35

C. Deadly nightshade - Anticholinergic syndrome results from the inhibition of muscarinic cholinergic neurotransmission. - Mnemonic, "red as a beet, dry as a bone, blind as a bat, mad as a hatter, and hot as a hare." The mnemonic refers to the symptoms of flushing, dry skin and mucous membranes, mydriasis with loss of accommodation, altered mental status (AMS), and fever, respectively. - Additional manifestations include sinus tachycardia, decreased bowel sounds, functional ileus, urinary retention, hypertension, tremulousness, and myoclonic jerking. - Patients with central anticholinergic syndrome may present with ataxia, disorientation, short-term memory loss, confusion, hallucinations (visual, auditory), psychosis, agitated delirium, seizures (rare), coma, respiratory failure, and cardiovascular collapse. - Datura and Deadly nightshade both have anticholinergic effects - Following initial stabilization, GI decontamination usually is necessary after anticholinergic poisoning by ingestion: Single dose activated charcoal (1 g/kg) by mouth or nasogastric tube - Gastric lavage (followed by activated charcoal) is acceptable for obtunded pt within 1hr of ingestion. - GI decontamination with activated charcoal is recommended, even when patients present hours postingestion, because of delayed gut emptying of anticholinergic agents and slowed peristalsis. - Repeated doses of activated charcoal are not necessary for most patients. Oleander = GI effects: Nausea and vomiting, Excess salivation, Abdominal pain, diarrhea Cardiac: Irregular heart rate, Haemodynamic compromise CNS: Drowsiness, tremors, Seizures, collapse, coma Lily = calcium oxalate + GI symptoms datura + deadly nightshade = ANTI cholinergic toadstool = cholinergic

Answer 36

B. MAG 3 "MAG-3. Most likely diagnosis is PUJ obstruction although they haven’t given a measurement of the pelvis - the MAG3 gives you drainage and function. If the MAG3 is normal then the most likely thing is a non obstructive hydronephrosis which is usually of no significance and resolves with time (or at least doesn’t cause any problems). The MCU only tells you if they have reflux – which is less likely to be the diagnosis and doesn’t matter unless there are infections. I suppose if the MAG3 was normal then you could then do a MCU to confirm the diagnosis was reflux although most people are now doing as few MCU’s as they can – good indication is suspected PUV and neuropathic bladders" - A MCUG (micturating cystourethrogram) is performed to detect VUR, and in boys to evaluate the posterior urethra for PUVs. - Diuretic retonography (e.g. technetium MAG3) is used to diagnose urinary tract obstruction in infants with persistent hydronephrosis, usually ordered after a MCUG has demonstrated no VUR. It measures the drainage time from the renal pelvis and assesses total and each individual kidney’s renal function.

Answer 37

B) PJP PCP • Imm-compromised, esp T-cell defects – SCID, AIDS, high dose steroids. • Methenamine silver nitrate stain. • 30% mortality

Answer 38

B. Dermatomyositis Muscle+Skin Involvement…. Gottron’s Patches – pathognomic for dermatomyositis. Inflammatory papules over the dorsal aspect of the IPJs and the extensor aspect of the elbows and knees joint. They became violaceous and flat topped and may coaelesce to become patches. Eventually the lesions show atrophic changes and become hypopigmentied Coxsackie can cause an inflammtoary myositis, and viral myositis is the most common cause of acute muscle disease associated with pain, difficulty walking and high CK. Juvenile Dermatomyositis Rare – 2-4 :1 000 000 Peak age 7 to 9 yrs Not associated with malignancy (cf adult form) Clinical Features • Symmetric Prxomial Weakness, subacute onset • Cutaneous Involvement o Periorbital – heliotrope (purple eyelids, but may be entire face)  Often looks puffy (capillary leaks o Periungal and extensor erythema o Gottron’s Paules (picture above) red papules MCP and PIP o nail-fail capillary dilatation o photosensitivity o upper chest ‘shawl’ rash • Elevated muscle enzymes – CPK, transaminases • EMG myopathy and denervation • Muscle Biopsy – typical perivascular infiltrate/necrosis, atrophy and degeneration • Skin and weakness may occur at different times • Weakness can be profound without clinical manifestations unless you look for them o Good test: ask pt. to sit up from lying, getting out of bed, voice changes – palatal incompetence and nasal escape of air or fluids • EMG and Muscle Biopsy rarely done as MRI can show muscle oedema (white on T2 MR; normally fat and muscle are the same density • Calcinosis/nodules relatively common • Vasculitis not that common • Contractures in indolent forms, rapid weakness occurs in acute presentation • Systemic features – fever, LOW • Management: Immunosuppresion; physio: firstly preventing contractures, strengthening exercise when weakness has started to improve Dermatomyositis is primarily a capillary vasculopathy

Answer 39

?C. Torsion of the testicular appendix

Answer 40

C. Di George syndrome or A) SCID? Presents early in life, and best prognosis when treat <4 months old • Most severe immunodeficiency with multiple different mutations (cytokine and antigen receptor genes) • No lymphoid cell development possible • Absent thymus, lymph nodes • Present with chronic diarrhoea and infections – OM, sepsis, skin, pneumonia as well as opportunistic infections (candida, PCP, Herpes family virus) and GVHD • T-cells are absent (or very low), with low/absent serum Ig and no response to immunisation/mitogens/antigens • Death before 1-2 years without transplant T-Cell disorders manifest in early infancy • FTT & poor growth, oral candida, skin rashes, sparse hair, opportunistic infections, GVHD, H-S-megaly • Viruses esp CMV and Coxsackie, PCP, systemic BCG after vaccination, fungal

Answer 41

A. Amoxicillin If child has meningitis and intermediate resistance – in 2003 was vancomycin but now can use CEFTRIAXONE. IF cephalosporin resistance use vanc +/- rifampicin Penicillin Sensitivity (MIC) • Intermediate: MIC 0.1 -2.0µg/L (1.0 in meningitis) • High Grade Resistance MIC >4 (>2 in meningitis) High Grade/Multiresistant strains (resistant to Cephalosporins, EES, clindamycin, Bactrim) uncommon in Australia. Can increase susceptibility (ie time above MIC) by: • Increasing dose (to 60mg/kg) • Add Probenecid (decreased elimination) • Increasing Dose frequency (eg 4 hourly, or continuous infusion)

Answer 42

E. Vincristine Peripheral neuropathy is an important complication of chemotherapeutic agents, including vincristine, cisplatin & cytarabine ``` Primarily relates to neuropathy • Jaw Pain • Constipation (ileus) • Peripheral Neuropathy (glove and stocking, mostly sensory) • Rarer side effects: alopecia, SIADH ```

Answer 43

A. Intussusception Football sign: free air in abdominal cavity in supine film

Answer 44

B. Congenital hypoparathyroidism But A) vit D def fits as well?? Hypoparathyroidism: • Low serum Ca, high serum PO4 • ALP normal/low • Vitamin D usually low (bu can be high if there is severe hypocalcemia) • Mg normal/low • PTH levels low • ECG: long QT (disappears when hypocalcemia is corrected) Should always think of vitamin D deficiency in patients with dark skin. Melanocytes inhibit cutaneous absorption of vitamin D and so more sunlight exposure is required in dark skinned people for the same amount of Vitamin D. Dark skinned people and therefore more susceptible to vitamin D deficiency. Also culturally these mothers dress modestly and are may not expose much skin and are therefore even more susceptible to vitamin D deficiency Only very severe maternal vitamin D deficiency leads to neonatal hypocalcemia Should also look for rickets in the developing fetus if there is such a severe deficiency Low birth weight is also associated with low maternal vitamin D levels.

Answer 45

E. Deletion of phenylalanine in the protein.

Answer 46

C. Robertsonian - 95% full trisomy of 21 (non-dysjunction at the first mitotic division) - Unbalanced translocation in ~5% (most denovo, however some from balanced mothers) - Mosaic in 1%

Answer 47

B. Breast feeding

Answer 48

B. Trypsin * Trypsinogen, which is an inactive(zymogenic) protease that, once activated in the duodenum, into trypsin, breaks down proteins at the basic amino acids. Trypsinogen is activated via the duodenal enzyme enterokinase into its active form trypsin. * Chymotrypsinogen, which is an inactive(zymogenic) protease that, once activated by duodenal enterokinase, breaks down proteins at their aromatic amino acids. Chymotrypsiongen can also be activated by trypsin.

Answer 49

B. Delayed cortical maturation Visual Development - The visual system (retina, optic nerves, visual cortex) is immature at birth. - It begins to mature during the first few weeks of life. - Myelination of the optic nerves, development of the visual cortex, and growth of the lateral geniculate body occur over the first two years. - The fovea (the most visually sensitive part of the retina) reaches maturity at approximately 4 years of age. - Visual stimuli are critical to the development of normal vision. - Development of the visual pathways in the central nervous system requires that the brain receive equally clear, focused images from both eyes - Visual fixation can be demonstrated shortly after birth. - The ability to follow an object is detectable in most infants by 3 months of age. - Stereopsis and binocular visual function develop between the ages of 3 and 7 months. - Visual acuity reaches the adult level of 20/20 by 3 – 5 years of age. Delayed Visual Maturation (DVM) Characterized by an otherwise normal eye exam in an infant that does not fix or follow or otherwise respond (e.g., blink to threatening object or bright flash of light) to a visual object. In an infant with DVM, the eyes, including the retinas and optic nerves, appear normal and the infant is otherwise neurologically normal. Infants with DVM do not have nystagmus and typically do not have "wandering" eye movements. Yet, the infant does not fix or follow. However, usually by about 6 months of age, the infant will start to fix and follow and will then appear as a visually normal infant. The typical infant with DVM is 2 to 4 months old and is otherwise healthy. The parents become concerned because the infant does not appear to see things or track things like most infants their age. The eye exam is normal, except for the fact that the infant doesn't fix or follow. Visual Evoked Response can be undertaken on the infant to ensure that the early visual pathways are intact and functioning. The VER to pattern stimulation is typically normal in infants with DVM. Usually, infants with more serious vision problems that are present at birth also exhibit other signs of vision loss such as nystagmus, or will exhibit self-visual stimulating behavior like pushing the thumb, fingers or whole hand into the eye and rubbing vigorously.

Answer 50

C. Panhypopituitarism

Answer 51

B. Liver 3 stages of developmental haematopoeisis 1. Mesoblastic – extra-embryonic structures (yolk sac) - Begins day 10-14 of gestation - Replaced by liver by 6-8 weeks as primary site - No extra-embryonic haematopoesis by 10-12 weeks 2. Hepatic - Occurs in the liver through gestation - Predominates through to 20-24 weeks gestation - Diminishes in second trimester 3. Bone marrow (Myeloid) - increases during second trimester As a general rule, yolk sac in T1, liver in T2, BM in T3.

Answer 52

E. Loud snoring

Answer 53

D. PGE2 Dilatation of afferent arterioles controlled by prostaglandins (prostaglandin I2 = prostacyclin, a powerful vasodilator) o Autoregulation of renal blood flow fails when perfusion pressures low o Therefore drugs which inhibit prostaglandin synthesis ie NSAIDs --> susceptibility to hypoperfusion damage Hypoperfusion --> renin secretion --> efferent arteriolar constriction --> increased glomerular capillary pressure --> maintainance of GFR during hypoperfusion o If hypoperfusion very severe --> renin will cause afferent constriction as well --> prolonged oliguria which does not respond to volume therapy o Renin levels raised in ARF except acute post-streptococcal nephritis (perfusion reduced by glomerular capillary occlusion by cell proliferation)

Answer 54

A. Contiguous gene deletion A contiguous gene syndrome is a syndrome caused by abnormalities of 2 or more genes that are located next to each other on a chromosome. e.g. Prader-Willi Syndrome, Angelman syndrome, 22q11.2 deletion syndrome. ``` DiGeorge syndrome (DGS) is a constellation of signs and symptoms associated with defective development of the pharyngeal pouch system. The classical presentation for DGS is the triad of conotruncal cardiac anomalies, hypoplastic thymus (results in a range of T cell deficits), and hypocalcemia (resulting from parathyroid hypoplasia). Possible facial abnormalities include low set and posteriorly rotated ears, ocular hypertelorism, palatal anomalies, and tapered fingers Approximately 90 percent of patients with DGS have heterozygous deletions in chromosome 22q11.2 (designated the DGSI locus), which occur spontaneously in most cases. ```

Answer 55

A. Praziquantal E. albendazole Hydatid Disease Zoonosis, from dogs, sheep or cattle. Humans infected by ingestion of eggs. Eggs hatch in the gut, then carried via lymphatics and vascular channels to liver, lungs and other. Two species which most commonly cause human infection are; - Echinococcus granulosus and Echinococcus multilocularis. Clinical features - E granulosus - Initial primary phase always asymptomatic. Many infections acquired in childhood but do not cause clinical manifestations until adulthood. - Depends on site of cysts and their size. - May be found in almost any site of the body from primary inoculation or via secondary spread o Liver affected in 66% o Lung in 25% o Other organs (brain, muscle, kidney, bone, heart and pancreas) in a small percentage o 90% have single organ involvement and 70% have only one cytst. Clinical features – E multilocularis - Less likely to be asymptomatic, although symptoms are non-specific - Malaise, weight loss, RUQ pain (secondary to hepatomegaly). Cholestatic jaundice, cholangitis, portal hypertension and Budd Chiari syndrome. - Extra-hepatic disease in <1%. - Untreated = 90% mortality in 10years of onset of symptoms. Diagnosis – imaging and serology (serology more specific for multilocularis than granulosus) - Non-specific leukopaenia, thrombocytopaenia, mild eosinophilia and non-specific liver function abnormalities. - Imaging – CT, MRI and US to detect hydatid cysts and characteristic - Serology – useful for primary diagnosis and for follow-up after treatment. Antigens less sensitive than antibody detection. As a general rule, serology for alveolar more reliable than cystic. Treatment - Per cutaneous aspiration of cyst/open surgery. - Albendazole/malbendazole plus praziquantel have greater protoscolicidal activity than either drug alone.

Answer 56

B. Childs functional capacity on home, school and community settings GMFCS Level I Children walk at home, school, outdoors and in the community. They can climb stairs without the use of a railing. Children perform gross motor skills such as running and jumping, but speed, balance and coordination are limited. GMFCS Level II Children walk in most settings and climb stairs holding onto a railing. They may experience difficulty walking long distances and balancing on uneven terrain, inclines, in crowded areas or confined spaces. Children may walk with physical assistance, a handheld mobility device or used wheeled mobility over long distances. Children have only minimal ability to perform gross motor skills such as running and jumping. GMFCS Level III Children walk using a hand-held mobility device in most indoor settings. They may climb stairs holding onto a railing with supervision or assistance. Children use wheeled mobility when traveling long distances and may self-propel for shorter distances. GMFCS Level IV Children use methods of mobility that require physical assistance or powered mobility in most settings. They may walk for short distances at home with physical assistance or use powered mobility or a body support walker when positioned. At school, outdoors and in the community children are transported in a manual wheelchair or use powered mobility. GMFCS Level V Children are transported in a manual wheelchair in all settings. Children are limited in their ability to maintain antigravity head and trunk postures and control leg and arm movements

Answer 57

D. Polycythaemia Cyanosis is dependent upon the absolute concentration of the reduced hemoglobin and not on the ratio of reduced hemoglobin to oxyhemoglobin. More than three decades ago, Lees reported that cyanosis would be visible if the deoxygenated hemoglobin content is greater than 3 g% (3 g per 100 mL). Because cyanosis is dependent upon the amount of deoxygenated haemoglobin level, a polycythemic infant (hemoglobin [Hb] = 25 g) who may not have respiratory distress may exhibit cyanosis at 88% oxygen saturation (deoxy Hb = 3 g). In contrast, it is difficult to diagnose cyanosis in a severely anemic infant (Hb = 8 gm) unless the oxygen saturation is 63%.

Answer 58

B. Synchronisation of cardioversion with the R wave Cardioversion for SVT should be synchronized with the R or S wave of the QRS complex. Synchronisation in the early part of the QRS complex avoids energy delivery near the apex of the T-wave which coincides with a vulnerable period for induction of ventricular fibrillation.

Answer 59

B. Inhibiting conversion of angiotensin I to angiotensin II

Answer 60

C. 1:150 = 2/3 x 1/25 x 1/4

Answer 61

E. 3rd and 4th pharyngeal pouches

Answer 62

A. 7-dehydrocholesterol to cholecalciferol (vitamin D3) Diet/supplementation of vitamin D2 (ergocalciferol) contributes 20% of vitamin D UV light conversion of 7-dehydrocholesterol contributes 80% of vitamin D UVB catalyses 7-dehydrocholesterol → vitamin D3 (cholecalciferol) Liver (25-hydroxylase) metabolises Vitamin D3→ 25-hydroxyvitamin D (calcidiol) Renal (1alpha hydroxylase) metabolises 25-hydroxyvitamin D→ 1,25 dihydroxyvitamin D (calcitriol) 1,25 dihydroxy vitamin D - Increases intestinal absorption of calcium - Increases bone resportion of calcium and phosphate - Decreases calcium and phosphate excretion - Suppresses PTH

Answer 63

E. Vincristine Where chemo works: • G1 phase o L-asparaginase • S drugs inhibit DNA synthesis : o inhibit DNA polymerase - cytarabine o steroids o antimetabolites (structural analogues of naturally occurring metabolites)  folic acid antagonists – methotrexate  pyrimidine antagonists – 5FU/ cytosine arabinoside  purine antagonists - mercaptopurine/ 6MP/thioguanine • G2 phase causes DNA degradation o topoisomerase inhibitors = etoposide o bleomycin • M phase: bind to tubulin and interfere with formation of spindles o vinca alkaloids (vinblastine, vincristine) Non-phase dependent drugs (or cell cycle non-specific) • inactivate DNA: procarbazine • alkylating agents: mustine, cyclophosphamide, chlorambucil, busulphan  platinum analogues: cisplatin (cross-link covalently with DNA bond) • anthracyclines = antibiotics that intercalate base pairs → strand breaks (doxorubicin)

Answer 64

A) calcium gluconate Effect of hyperkalaemia on ECG • Wide flat p, wide QRS, peaked T wave, PR interval lengthens • Extremely high K: no p wave and even wider QRS because of conduction delay • Can lead to AV block, bundle branch blocks, asystole The following modalities are listed by both their rapidity and mode of action and address the immediate consequences of severe hyperkalemia: • Stabilization of the cardiac membrane with the intravenous calcium (calcium gluconate 10 percent solution in a dose 0.5 to 1.0 mL per kilogram intravenously over 5 to 15 minutes). • Promotion of potassium movement from the extracellular fluid (ECF) into the cells via three different therapies: - Administration of intravenous glucose and insulin (0.5 to 1.0 g of glucose per kilogram over 30 minutes and 0.1 unit of insulin per kilogram intravenously or subcutaneously); - Administration of intravenous sodium bicarbonate (in a dose of 1 to 2 milliequivalent per kilogram over 30 to 60 minutes); and - Administration of beta agonists, such as albuterol, via nebulization (2.5 mg if the child weighs less than 25 kilogram or 5 mg if the child weighs more). Albuterol can be administered intravenously at 4 to 5 microgram per kg over 15 minutes, but nebulization is the preferred treatment route.

Answer 65

D. Loud second heart sound A narrowly split S2 or single S2 occurs when the pulmonary valve closes early. Increased intensity of the P2, compared with that of the A2, is found in pulmonary hypertension. Ejection click is heard due to dilated great arteries. Can get S4 & Tricuspid regurg.  holosytolic murmur.

Answer 66

B. GLUT * Fructose – Facilitated diffusion - NOT cotransported with Na+. Enters the enterocyte by hexose transporter GLUT-5. * Glucose and Galactose - Go together (with Na+ pump) - Without glucose or galactose present, intestinal sodium will not be absorbed. This is the reason glucose is included in ORSs. * All the monosaccharides (glucose, galactose and fructose) are transported out of the enterocyte into the circulation through GLUT-2 in the basolateral membrane

Answer 67

D. 100 NNT = 1/ARR ARR = 5% - 4% = 1% Hence NNT = 100 NNT = 100/ARR ARR (Absolute risk reduction) = CER – EER CER (control event rate) = risk of event in the control group EER (experiment event rate) relative risk = risk of event in the treated group. RRR (relative risk reduction) = (CER-EER) / CER

Answer 68

C. Anti ds DNA ANA is positive in significant titer (usually 1:160 or higher) in virtually all patients with SLE. But 8-15% of healthy children have +ve ANA. Two autoantibodies that are highly specific for SLE: anti-double-stranded DNA (dsDNA) antibodies; and anti-Sm (smith) antibodies. Antibodies to ribonucleoprotein (RNP) & Scl-70 in mixed connective tissue disease, CREST and scleroderma. Antibodies to Ro (SS-A) and La (SS-B) in subacute SLE and Sjögren's syndrome

Answer 69

?E: 75% “Around 75 per cent of people with autism also have intellectual disability. The remaining 25 per cent of affected people may have impaired insight, social functioning and communication skills but do not have intellectual disability or significantly reduced cognitive ability. This status is called ‘higher functioning autism’. A small number of people with higher functioning autism may have extraordinary creative or artistic skills and abilities.”

Answer 70

E. Drowsiness/sedation Stimulates alpha2-adrenoreceptors in the brain stem, thus activating an inhibitory neuron, resulting in reduced sympathetic outflow, producing a decrease in vasomotor tone and heart rate. Clonidine also acutely stimulates the release of growth hormone in children and adults; Adverse Reactions Cardiovascular: Raynaud's phenomenon, hypotension, bradycardia, palpitations, tachycardia, CHF, rebound hypertension if discontinued abruptly Central nervous system: Drowsiness, sedation, headache, dizziness, fatigue, insomnia, anxiety, depression Dermatologic: Rash, local skin reactions with patch Endocrine & metabolic: Sodium and water retention, parotid pain Gastrointestinal: Constipation, anorexia, xerostomia Respiratory: Respiratory depression and ventilatory abnormalities with high epidural doses

Answer 71

A. 2% Intrapartum ABx reduce the incidence of early onset GBS, but NOT late onset disease. 30% of mothers are colonised: untreated with antis -> 50% of infants are colonised and 2% develop disease. Chemoprophylaxis: o 1 dose 4 hours before is adequate prophylaxis o Swab about 35 weeks o LOW vaginal and rectal swabs taken by the woman

Answer 72

E. Arachnoid cyst

Answer 73

D. Social related Aberrant development of social skills and impaired ability to engage in reciprocal social interactions are hallmark symptoms of AD. Early social skill deficits can include abnormal eye contact, failure to orient to name, failure to use gestures to point or show, lack of interactive play, failure to smile, lack of sharing, and lack of interest in other children

Answer 74

C. The ejection systolic murmur gets softer

Answer 75

A. Acute respiratory acidosis Acidotic. High pCO2. Uncompensated (by HCO3) therefore acute.

Answer 76

B. Eczema The answer here is between Hyper-IgE and eczema… both can have very high IgE and eczema is a lot more common Job Syn: - Elevated IgE (may be as high as 50,000) with normal or elevated IgG, IgA, IgM, IgD

Answer 77

B. Subglottic stenosis Three different shapes of flow-volume loops can be distinguished. 1. Variable Extrathoracic Obstruction Typically the expiratory part of the F/V-loop is normal: the obstruction is pushed outwards by the force of the expiration. During inspiration the obstruction is sucked into the trachea with partial obstruction and flattening of the inspiratory part of the flow-volume loop. This is seen in cases of vocal cord paralysis, extrathoracic goiter and laryngeal tumours. 2. Variable Intrathoracic Obstruction This is the opposite situation of the extrathoracic obstruction. A tumour located near the intrathoracic part of the trachea is sucked outwards during inspiration with a normal morphology of the inspiratory part of F/V-loop. During expiration the tumour is pushed into the trachea with partial obstruction and flattening of the expiratory part of the F/V loop. 3. Fixed Large Airway Obstruction This can be both intrathoracic and extrathoracic. The flow-volume loop is typically flattened during inspiration and expiration. Examples are tracheal stenosis caused by intubation and a circular tracheal tumour. Typical flattening of flow-volume loop in fixed airway obstruction. (In fixed obstruction of the upper airway, flow is limited by the calibre of the narrowed segment, not by dynamic compression, therefore equal reduction of inspiratory and expiratory flow rates)

Answer 78

C. Eosinophils - Erythema toxicum is a benign, self-limited, evanescent eruption that occurs in approx 50% of full-term infant; preterm infants are affected less commonly. - The lesions are firm, yellow-white, 1 – 2mm papules or pustules with a surrounding erythematous flare. - Peak incidence occurs on the 2nd day of life, but new lesions may erupt during the 1st few days as the rash waxes and wanes. - Onset may occasionally be delayed for a few days to weeks in premature infants. - The pustules form below the stratum corneum or deeper in the epidermis and represent collections of eosinophils that also accumulate around the upper portion of pilosebaceous follicle. - The eosinophils can be demonstrated in Wright-stained smears of the intralesional contents.

Answer 79

C. Glucose Dialysate glucose is the major determinant of the crystalloid component of osmotic pressure for ultrafiltrate. Osmotic agents — Fluid removal is essential in dialysis patients. Osmotic agents, being hyperosmolar, allow net water removal by altering the osmotic pressure gradient between the peritoneal dialysis solution and plasma water. The initial PD solutions were saline solutions, but since the 1940s, dextrose has been commonly used as the osmotic agent. Glucose is the most commonly utilized osmotic agent in peritoneal dialysis. It comes in three different dextrose monohydrate concentrations: 1.5, 2.5, and 4.25 percent. The main advantage of dextrose is that it is cheap, safe, and easily available. Buffers — Three different agents have been used as buffers to control acidosis in peritoneal dialysis patients. These are acetate, lactate, and bicarbonate. Electrolytes — Commercially available solutions contain sodium, magnesium, calcium, and chloride. In some settings, minerals like iron pyrophosphate or iron dextran have also been added to the peritoneal dialysis solutions. In addition, potassium can be added to the peritoneal dialysis solution.

Answer 80

C. Vitamin B12 ?vitamin E B12 absorbed in distal ileum - Nonspecific symptoms of weakness, fatigue, failure to thrive, irritability - Other common features include pallor, glossitis, vomiting, diarrhoea, and icterus. - Neurological symptoms also occur, including paraesthesiae, sensory deficits, hypotonia, seizures, developmental delay, developmental regression, and neuropsychiatric changes. **subacute combined degeneration of the cord – may be irreversible** Subacute combined degeneration of spinal cord, also known as Lichtheim's disease,[1][2] refers to degeneration of the posterior and lateral columns of the spinal cord as a result of vitamin B12 deficiency (most common), vitamin E deficiency or Friedrich's ataxia. It is usually associated with pernicious anemia. Vitamin E - Signs of vitamin E deficiency include neuromuscular problems such as spinocerebellar ataxia and myopathies.[1] Other neurological signs may include dysarthria, absence of deep tendon reflexes, loss of vibratory sensation and proprioception, and positive Babinski sign

Answer 81

D. 2 years Depending on the author, the alveolar phase begins at varying times. Probably in the last few weeks of the pregnancy, new sacculi and, from them, the first alveoli form. Thus, at birth, 1/3 of the roughly 300 million alveoli should be fully developed. The alveoli, though, are only present in their beginning forms. Between them lies the parenchyma, composed of a double layer of capillaries, that forms the primary septa between the alveolar sacculi. Already before birth these alveolar sacculi get to be increasingly complex structurally. Thereby, a large number of small protrusions form along the primary septa. Soon, these become larger and subdivide the sacculi into smaller subunits, the alveoli, which are delimited by secondary septa. Ultrastructural investigations show that overall where such alveoli appear, they are surrounded by elastic fibers that form the interstitial septa between two capillary nets. In the first 6 months, their number increases massively. This "alveolarization" and therewith the formation of secondary septa should - to a limited extent still - continue up to the first year and a half of life.

Answer 82

B. Vincristine Alkaloid, binds to tubulin and inhibits mitosis (acts in M phase when most others act in S phase). Does not directly interfere with DNA directly. Does not cause myelosuppresion. Primarily relates to neuropathy • Jaw Pain • Constipation (ileus) • Peripheral Neuropathy (glove and stocking, mostly sensory) • Rarer side effects: alopecia, SIADH

Answer 83

E. Jejeunum

Answer 84

C. Mobilisation of aquaporins to the apical membrane

Answer 85

A. Intrapartum Diseases caused = Trachoma, urethritis, cervicitis, pelvic inflammatory disease, neonatal conjunctivitis and pneumonia, lymphogranuloma venereum. The infant may become infected at 1 or more sites, including the conjunctivae, nasopharynx, rectum, and vagina. Transmission is rare following cesarean section with intact membranes. Approximately 30–50% of infants born to mothers with active, untreated, chlamydial infection develop clinical conjunctivitis. Symptoms usually develop 5–14 days after delivery. Pneumonia due to C. trachomatis develops in 10–20% of infants born to women with active, untreated chlamydial infection. Only about 25% of infants with nasopharyngeal chlamydial infection develop pneumonia. C. trachomatis pneumonia of infancy has a very characteristic presentation. Onset is usually from 1 to 3 mo of age and is often insidious with persistent cough, tachypnea, and absence of fever. A distinctive laboratory finding is the presence of peripheral eosinophilia (>400 cells/mm3). The most consistent finding on chest radiograph is hyperinflation accompanied by minimal interstitial or alveolar infiltrates.

Answer 86

A. phosphatidylcholine Surfactant is 90% lipids - of which the majority is phosphatidylcholine, a saturated lipid  Fully known as dipalmitoylphosphatidylcholine (DPPC)  Phosphatidylglycerol is about 10% of the lipids Proteins comprise 10% of surfacts, half being plasma proteins and the rest apolipoproteins. Surfactant proteins B&C are thought to be particularly useful. -Surfactant protein A&D are hydrophilic, so are removed

Answer 87

D. Phenytoin ? Sodum Valproate Cyclosporin: Therapeutic range: Not absolutely defined, dependent on organ transplanted, time after transplant, organ function and CsA toxicity. Toxic level: Not well defined, nephrotoxicity may occur at any level Digoxin possesses a narrow toxic to therapeutic window. Toxic effects include the induction of arrhythmias, conduction disturbances, and, in severe cases, constitutional symptoms such as nausea, vomiting, and visual disturbances. The serum digoxin concentration does not necessarily correlate with toxicity. Numerous reports have described asymptomatic patients with a "toxic" level, while others described patients with significant toxicity despite a serum digoxin concentration in the therapeutic range. Although they may not correlate with clinical manifestations of toxicity, serum digoxin levels are used in some cases to determine the dosing of antidotal therapy with Fab fragments. RCH CPG for increased seizures in CP: • Anticonvulsant levels may be useful in some situations o Phenytoin, phenobarbitone (see Therapeutic Drug Monitoring - available on RCH Intranet only) o Carbamazepine or sodium valproate levels are not usually helpful

Answer 88

D. Occipital horn The caudothalamic groove is an important landmark on neonatal ultrasounds. It is located, as the name suggests, between the caudate nucleus and thalamus, and is a shallow groove projecting from the floor of the lateral ventricle. It is approximately at the level of the foramen of Munroe, and importantly demarcates the anterior most extent of the choroid plexus. Any echogenicity seen anterior to the groove suggests germinal matrix haemorrhage.

Answer 89

E - coeliac screening I think the answer is (A) – celiac. Classic causes for unstable sugars in T1DM = coeliac / thyroid disease, and with abdominal pain + joint pain + weightloss this is pretty classic. I agree that it could be adrenal insufficiency, but coeliac is much more likely. Also, no mention of pigmentation in this Px. But C? Addinson’s disease. UTD: “Less than 1 percent of children with type 1 diabetes have autoimmune adrenalitis. In one report, about 2 percent of children with type 1 disease had circulating antibodies to steroid 21-hydroxylase. This condition is associated with decreased insulin requirement and increased frequency of hypoglycemia.” Synacthen test = ACTH stimulation test. Done to evaluate the response to ACTH in adrenal insufficiency.

Answer 90

B. Dopamine antagonist - Neuroleptics, antipsychotics, or major tranquilisers are a group of drugs used to treat schizophrenia or other types of psychoses. - Haloperidol and chlorpromazine are older “typical” or “first generation” neuroleptics. o They are non-selective and bind to a broad range of receptors – dopamine D1 and D2, 5-HT2 (serotonin), histamine H1, and 2-adrenergic receptors in the brain. - The efficacy of these neuroleptics is due to the antagonism of dopamine receptors in the mesolimbic and mesofrontal systems. - The dopamine D2 receptors have a particularly high affinity for the drug, and hence are the major site of action. - The adverse effects include tachycardia, impotence, and dizziness – mostly caused by non-selective interaction with the 2-adrenergic receptors (anti-cholinergic side effects). - Other adverse effects include sedation and weight gain (due to histamine H1 receptor blockade).

Answer 91

C) TOF Haemodynamic findings in cardiac catheterisation Approach 1) Exlcude TGA a. SaO2 – is Ao > PA b. Pressure – is LV systemic 2) Look for step up / step down in SpO2 for site of mixing/shunt/obstruction 3) Ignore the catheter findings and look at the stem!

Answer 92

E. Specificity Sensitivity = a/(a+c) = 120/(120+60) = 120/180 = 0.67 Specificity = d/(b+d) = 200/(200+40) = 200/240 = 0.83 PPV = a/(a+b) = 120/(40+120) = 120/160 = 0.75 NPV = d/(c+d) = 200/(60+200) = 200/260 = 0.77 NLR = (1-sens) / spec = (1-0.67)/0.83 = 0.33/0.83 = 0.40

Answer 93

D. Infantile masturbation.

Answer 94

D. 25 hours Steady state achieved after 5 half lives Time to steady state = 5 x t1/2 - Not affected by loading dose, oral/iv etc if bioequivalent

Answer 95

B. Influenza * MMR: NOT contraindicated for egg allergic children, although the measles vaccine is produced in a culture of chick embryo fibroblasts * Influenza: Both the intramuscular inactivated and intranasal live-attenuated influenza vaccines contain a small amount of egg protein. Safe administration of injectable influenza vaccine containing ≤1.2 mcg ovalbumin/mL to egg-allergic recipients has been reported. The risk of a serious allergic reaction to the vaccine needs to be weighed against the risks of severe illness and death due to influenza infection and secondary complications. For the patient who is six months of age or older and has known egg allergy of any severity, except severe anaphylaxis, we suggest administration under observation of a vaccine that contains ≤1 mcg ovalbumin per 0.5 mL as a single dose without prior vaccine skin testing * If the history of anaphylaxis was severe, we suggest administration of the vaccine under observation by a two-step protocol without prior vaccine skin testing: ie under supervised conditions, 1/10th of the vaccine is administered IM followed by 30 min observation. If no reaction is noted, then administer the remaining nine-tenths dose intramuscularly followed by an observation period of at least 30 minutes. NB. See UTD but this guideline has now changed. Can give it under observation and if anaphylaxis give in controlled environment

Answer 96

C. 25(OH)Vitamin D • Main source (80%): Skin 7-dihydrocholesterol  cholecalciferol • Vitamin D2 – ergocholecalciferol (dietary source – supplements) • D3 requires hydroxylation at the 25 & 1 positions • 25-D circulates bound to Vitamin D binding protein o it has some weak activity (irrelevant unless Vitamin D excess) o assay gives a measure of vitamin D status • 1-25-D is formed in the renal proximal tubule o synthesis tightly controlled by plasma Ca o a second enzyme exists to divert 25-D from excess conversion to 1-25D o Acts via a specific Vitamin D receptor in gut, PT glands, bones  Promotes Ca absorption in small intestine  Suppresses PTH  Stimulates differentiation of osteoclasts  Influences growth plate mineralisation  It also increases PO4 absorptions (but most of this is Vit D-independent) Testing for sufficient Vitamin D levels 25-D is best as liver metabolism is essentially unregulated

Answer 97

D. IgG small amount of IgG. More protective than IgA but less abundant

Answer 98

B. Denatured haemoglobin

Answer 99

Phenytoin - Fetal hydantoin syndrome: craniofacial anomalies, distal digital hypoplasia, epicanthal folds, hypertelorism, low-set ears, developmental delay. Phenobarbital and primidone: similar to fetal hydantoin syndrome and fetal alcohol syndrome. (Primidone is metabolized to phenobarbital; thus, many of the effects on the fetus are similar). Hirsute forehead, thick nasal roots, long philtrum and anteverted nostrils Valproic acid: Specific craniofacial abnormalities , long, thin digits with hyperconvex nails , neural tube defects , developmental delay and decreased verbal intelligence Carbamazepine: craniofacial abnormalities, hypoplastic nails, lower IQ scores, increased risk of neural tube defects in as many as 0.5-1% of births (ie, 10 times the baseline risk), cardiac anomalies Gabapentin, lamotrigine, felbamate, topiramate, and oxcarbazepine - Not studied extensively in pregnancy - None of the existing studies revealed a rate of congenital malformations greater than that for a woman with epilepsy who is not taking AEDs. - Generally have a better pharmokinetic profile and are not metabolized to known teratogens. - All of these anticonvulsants are considered US Food and Drug Administration pregnancy category C. - Of note, they are still known to both cross the placenta and into breast milk If any family Hx of NTDs, valproate and CBZ should be avoided wherever possible.

Answer 100

D) if large; E) if small * Need to cover staph – not penicillin or vanc * cephalexin * If it is really big = oral cephalexin. Community aquired MRSA low * Clinda is over kill * If small lesion = mupirocin

Answer 101

B) 10% Risk of developing schizophrenia in identical twin of affected individual = 50% (10% dizygotic/sibling; 5% in child of affected person). Males present earlier, females have lengthier prodromal phase. Population risk 0.5-1%

Answer 102

E) Increased pulmonary vascular resistance - A grade 2/6 to 5/6 regurgitant systolic murmur is audible at the LLSE. It may be holosystolic or early systolic. - A systolic thrill may be present at the lower left sternal border. Praecordial bulge and hyperactivity are present with a large-shunt VSD. - The intensity of the P2 is normal with a small shunt and moderately increased with a large shunt. - If there is associated pulmonary hypertension there will be a loud and single S2. - Cyanosis and clubbing may be present in patients with pulmonary vascular obstructive disease (Eisenmenger syndrome).

Answer 103

E) Presence of factor V which is resistant to inactivation Factor V Leiden (factor V Q506, Arg506Gln) is not susceptible to cleavage at position 506 by activated protein C and is therefore inactivated more slowly. Factor V Leiden mutation leads to a hypercoagulable state for two reasons, due to the critical position of factor V in both the coagulant and anticoagulant pathways: #Increased coagulation — Factor Va Leiden is inactivated more slowly by APC than is normal Factor Va. Accordingly, more factor Va is available within the prothrombinase complex, increasing coagulation via the increased generation of thrombin. #Decreased anticoagulation — Factor V cleaved at position 506 is also thought to be a cofactor, along with protein S, in supporting the role of activated protein C in the degradation of factor VIIIa (in the tenase complex) as well as factor Va (in the prothrombinase complex). Lack of this cleavage product in patients with factor V Leiden thus decreases the anticoagulant activity of activated protein C Heterozygosity for factor V Leiden accounts for 90-95% of APC resistance 1-15% in Caucasians, not present in African Blacks, Chinese, or Japanese

Answer 104

E: premature adrenarche A. Androgen insensitivity. No, would have central precocious puberty with testicular production of testosterone at age 7 and breast development from aromatisation of testosterone to oestrogen. B. Central precocious puberty. No, would have breast development. C. Late-onset congenital adrenal hyperplasia. Would usually expect advanced bone age, other signs of virilisation eg. acne. D. McCune Albright syndrome. Present with gonadotrophin-independent peripheral precocious puberty ie. autonomous oestrogen production from the ovaries due to activating mutations of the Gsa receptors (and therefore breasts). E. Premature adrenarche. Likely answer, especially in view of the age of the child – around the time of early adrenarche.

Answer 105

B. Delayed sleep phase disorder Delayed sleep phase disorder (DSPD), a circadian rhythm disorder, involves a significant, persistent, and intractable phase shift in sleep-wake schedule (later sleep onset and wake time) that conflicts with the individual's normal school, work, and/or lifestyle demands. DSPD may occur at any age, but is most common in adolescents and young adults. Individuals with DSPD often start out as night owls; that is, they have an underlying predisposition or circadian preference for staying up late at night and sleeping late in the morning, especially on weekends, holidays, and summer vacations. Studies indicate that DSPD affects approximately 7-16% of adolescents. The most common clinical presentation is sleep initiation insomnia when the individual attempts to fall asleep at a “socially acceptable” desired bedtime, accompanied by extreme difficulty getting up in the morning even for desired activities, and daytime sleepiness. Sleep maintenance is generally not problematic, and no sleep onset insomnia is experienced if bedtime coincides with the preferred sleep onset time (e.g., on weekends, school vacations). School tardiness and frequent absenteeism are often present. The goal in the treatment of DSPD is basically 2-fold: first, shifting the sleep-wake schedule to an earlier time, and second, maintaining the new schedule. Gradual advancement of bedtime in the evening and rise time in the morning typically involves shifting bedtime/wake time earlier by 15-30 min increments; more significant phase delays (difference between current sleep onset and desired bedtime) may require “chronotherapy,” which involves delaying bedtime and wake time by 2-3 hr daily to every other day. Exposure to light in the morning (either natural light or a “light box”) and avoidance of evening light exposure are often beneficial. Exogenous oral melatonin supplementation may also be used; larger doses (i.e., 5 mg) are typically given at bedtime, but some studies have suggested that physiologic doses of oral melatonin (0.3-0.5 mg) administered in the afternoon or early evening (i.e., 5-7 hr before the habitual sleep onset time) seem to be most effective in advancing the sleep phase.

Answer 106

A. Add glucose to her IV fluids • Adequate insulin must be continued to clear ketones and correct acidosis. Adjust the concentration of dextrose in the intravenous fluids, aiming to keep blood glucose 5-10 mmol/l • The insulin infusion can be discontinued when the child is alert and metabolically stable (pH > 7.30 and HCO3 > 15). The best time to change to s.c. insulin is just before meal time. The insulin infusion should only be stopped 30 minutes after the first s.c. injection of insulin. o Fluid replacement with normal saline and potassium (as above) should continue for the at least the first 6 hours. If the blood glucose falls very quickly within the first few hours, or if the BGL reaches 12-15mmol/l, change to normal saline with 5% dextrose and potassium. o If the blood glucose falls below 5.5 mmol/l and the patient is still acidotic, increase the dextrose concentration in the infusate to 10%. The insulin infusion rate should only be turned down if BGL continues to fall despite use of 10% dextrose.

Answer 107

C. Pragmatic language disorder Although sharing many characteristics of autism (deficits in social relatedness and restricted range of interests), individuals with Asperger syndrome typically show normal early language development (syntax and semantics). As they mature, higher-order social and language pragmatic impairments become prominent features of this disorder. Affected children have an unusually circumscribed range of interests, which are all-absorbing and interfere with learning of other skills and with social adaptation. These children may engage in long-winded, verbose monologues about their topics of special interest, with little regard to the reaction of others. Their inflection pattern (prosody) may be inappropriate to the content of their conversation, and they might not adjust their rate of speech or vocal volume to the setting.

Answer 108

C) 60% Nelson: The course of a particular lesion is unpredictable, but ≈ 60% of these lesions reach maximal involution by 5 yr of age, and 90-95% by 9 yr. Spontaneous involution cannot be correlated with size or site of involvement, but lip lesions seem to persist most often

Answer 109

B. Cephalothin Empiric therapy osteomyelitis: • Firstline: di/flucloxacillin • For patients hypersensitive to penicillin (excluding immediate hypersensitivity): cephazolin • For patient with immediate hypersensitivity to penicillin: vancomycin Directed therapy for MSSA osteomyelitis: • Firstline: di/flucloxacillin • Hypersensitive to penicillin: cephalothin OR cephazolin – ie first generation cephalosporins (IV equivalents to cephalexin) • Immediate hypersensitivity to penicillin: clindamycin (or vancomycin if MSSA not sensitive to clinda)

Answer 110

A. Excessive dieting no consensus regarding the causes of eating disorders. A combination of genetic, biological, psychological, family, environmental, and social factors probably contribute to developing an eating disorder. An anxious or perfectionistic individual may experience decreased self-esteem or self-control because of predisposing factors (eg, biology, family history, traumatic events) and then use dieting behavior or weight loss to provide a sense of stability or control. • In one study, a history of dieting was the most important predictor of a new eating disorder in adolescent children.

Answer 111

B. History of normal head circumference at birth May not have regression at 4 years old Necessary criteria for RETT are as follows: • Apparently normal prenatal and perinatal period • Psychomotor development normal through the first six months or may be delayed from birth • Normal head circumference at birth • Deceleration of head growth postnatally in the majority • Loss of acquired purposeful hand skills between ages 6 and 30 months • Emergence of cognitive impairment, loss of learned words, communication dysfunction, and social withdrawal • Stereotypic hand movements such as hand wringing/squeezing, clapping/tapping, mouthing and washing/rubbing automatisms • Dyspraxic or failing locomotion Supportive criteria for RTT are as follows: • Breathing dysfunction during wakefulness (eg, air swallowing, breath-holding spells, forced expulsion of air or saliva, hyperventilation) • Teeth grinding (bruxism) • Sleep pattern impairment beginning in early infancy • Muscle tone abnormalities, often with associated muscle wasting and dystonia • Peripheral vasomotor disturbances • Progressive childhood scoliosis/kyphosis

Answer 112

A) Reduce mortality Hyperoxia is thought to raise cellular oxygen saturation, which leads to an increased generation of free oxygen radicals causing cellular and tissue injury. In preterm infants, hyperoxia increases the risk of bronchopulmonary dysplasia (BPD) and retinopathy of prematurity (ROP). Preterm infants are more vulnerable to oxygen toxicity because of their diminished levels of antioxidant enzymes. A meta-analysis included five of these studies that enrolled 1302 infants. The following findings were noted: • a reduction in mortality with the use of room air compared to 100 percent oxygen. However, about one-quarter of the infants initially treated with only room air subsequently received 100 percent oxygen. • no difference in the risk of hypoxic ischemic encephalopathy grades II or III. • One trial found no difference in adverse neurodevelopmental outcomes, including cerebral palsy or failure to achieve age-appropriate developmental milestones in patients at 18 to 24 months of age.

Answer 113

D) OGTT recommend annual screening for CFRD beginning at age 10 years, carried out at a time of clinical stability. An oral glucose tolerance test (OGTT) should be used for screening because either fasting plasma glucose or hemoglobin A1C have low sensitivity in this patient group

Answer 114

C) Increased work of breathing during sleep  OSA is defined as repeated episodes of partial or complete upper airway obstruction that disrupt normal ventilation and sleep.  Incidence is 3% of children with peak incidence at 2–6 years due to adenotonsillar hypertrophy.  Complications of severe OSA include growth failure and cor pulmonale, with milder OSA associated with impairment of behaviour and neurocognitive functioning.  Symptoms include snoring, difficult or laboured breathing, apnoeas, mouth breathing, excessive sweating and restless or disturbed sleep. Children less commonly present with tiredness and lethargy.

Answer 115

25% of Haemophilia A patients have factor inhibitors (cf Haem-B – <5%). Less likely to make inhibitors if you have even a SMALL amount of endogenous factor. If low titres of Ig inhibitor you can just increase the dose. If high levels use recombinant 7a ($$$) or prothrombin complex concentrates or porcine factor 8. Inhibitors are antibodies directed against factor VIII or IX that block the clotting acitivity. Suspect when failure to respond to standard treatment of haemophilia, or a worsening of mild to moderate haemophilia • They develop in 25-30% of those with haemophilia A, less commonly with haemophilia B • Highly purified factor IX or recombinant factor IX seem to increase the frequency of inhibitor development • Many patients who have an inhibitor lose this inhibitor with continued regular infusions • Others have higher titre of antibodies with subsequent infusions and need desensitisation • High Responders – high titres of antibodies, which increases after each exposure and may persist for years in the absence of exposure. FVIII preparations are ineffective and the require Rx by bypassing the deficient clotting factors • Low Responders Have persistently low antibody titres that do not increase after factor infusion and may disappers. • Factor IX desensitisations have results in anaphylaxis nephrotic syndrome in some patients • Rituximab has been usedas al alternativetherapy for patients with hight titer inhibitors who have failed immune tolerance programs • If desensitisations fails, blleding is treated with o recombinant factor VIIa o Activated prothrombin complex concentrates o Plasmapheresis in an emergency situation may help achieve haemostasis eg pre-surgery

Answer 116

B) Delayed micturition Voiding postponement and underactive bladder — Voiding postponement occurs in children who learn to habitually postpone micturition (utilizing holding maneuvers to prevent mictuartion, often in specific setting eg school), resulting in a low frequency of voiding. Over time, some children with voiding postponement will develop an underactive bladder with weak or absent detrusor contraction. commonly have behavioral issues or have a psychological comorbidity, risk for UTI with post void residuals

Answer 117

D) Renal sodium loss In utero, between 24 and 36 weeks weight gain is 15g/kg/day Preterm Infants require 120-150kcal/kg/day (500-630kJ/kg/day) In term infants, • for the first 6 months of life, weight gain is 150-220g per week (wt @ 6mo = double birth weight) • 6-9 months 90-150 grams per week • 9-12 months wt gain is 60-90g per week Poor weight gain, particularly when <34/40 may be due to sodium depletion from reduced concentrating capacity of the kidneys. Sodium is an important growth factor, stimulating cell proliferation, protein synthesis and increasing cell mass. This can occur even if serum sodium is not that low. Subsequent NaCL supplementation restores growth. Usually corrects by 34 weeks of age. However,hyponatremia in the first few days of life usually reflects fluid overload.

2009 remembered Flashcards

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