2013 Remembered Flashcards

Question

Genogram with affected males and females, non-affected female passes to children both male and female, male passes to female child A. AD with variable penetrance B. mitochondrial C. AR D. XLR E. XLD

Answer 1

A. AD with variable penetrance

Answer 2

mixture of mitochondria containing mutant DNA and normal DNA The occurrence in a single cell of more than one different population of mitochondrial DNA sequence.

Answer 3

ADH is low. Diabetes insipidus is most frequent endocrine abnormality in LCH. Multisystem disease is usually in younger children (\<3yrs) and single organ disease in older children. Single organ in 55%.

Answer 4

congenital chloride losing diarrhea

Answer 5

peripheral PS (85%-90%) **Alagille syndrome** — Alagille syndrome is characterized by the paucity of interlobular bile ducts and the following associated features: ●Chronic cholestasis (approximately 90 percent) ●Cardiac anomalies, most commonly peripheral pulmonic stenosis (85 to 91 percent) ●Butterfly vertebrae (39 to 87 percent) ●Posterior embryotoxon (prominent Schwalbe line) of the eye (61 to 88 percent) ●Dysmorphic facies, consisting of broad nasal bridge, triangular facies, and deep set eyes (77 to 95 percent) Up to Date

Answer 6

33.5 degrees

Answer 7

alpha 1 antitrypsin Progressive familial intrahepatic cholestasis * biliary atresia, a1 antitrypsin, neonatal hepatitis, choledochal cyst: elevated GGT * PFIC types 1 and 2 normal or decreased GGT, type 3 increased GGT

Answer 8

Ans: mosaic turners Array CGH cannot detect “balanced” chromosome rearrangements such as reciprocal translocations and inversions and polyploidy. However, ~40% of patients with apparently balanced de novo rearrangements and abnormal clinical phenotypes will have imbalances detected by arrays. Array CGH will also detect imbalances which are the unbalanced products of balanced parental rearrangements. The follow up studies are designed to confirm these. **aCGH will not detect either mixtures of normal and abnormal cells (mosaicism) where the proportion of abnormal cells is \< 30%**, or triploidy, but both of these are extremely rare conditions and, if suspected, can be tested with other methods.

Answer 9

Ans: Renal Artery Stenosis **Liddle syndrome** is a genetic disorder with increased function of collecting tubule sodium channel. Present young with triad of hypertension, hypokalemia and metabolic alkalosis. Low renin, low serum and urinary aldosterone. **Renal artery stenosis**: In response to perceived low BP (distal to stenosis) sensed by granular cells of afferent arterioles, renin-angiotensin-aldosterone system activated leading to hypertension. Metabolic alkalosis due to ECF fluid changes (complex mechanims) (look for high renin, hypertension and normal electrolytes with metabolic alkalosis). **11 beta hydroxylase deficiency**: 2nd most common cause of congenital adrenal hyperplasia. Decreased cortisol production causing increased ACTH secretion. Subsequent adrenal stimulation leads to excessive production of adrenal androgens. Look for low renin, HTN, hypokalaemia **Cushings syndrome**: ACTH-dependent cushing’s syndrome is most common cause of endogenous hypercortisolism. Low renin, low K+, alkalosis Phaechromocytoma : tumoural hypersecretion of noradrenaline, adrenaline and dopamine. Classic symptom triad is episodic headache, sweating, and tachycardia usually accompanied by hypertension.

Answer 10

Familial adenomatous polyposis is due to a germ line mutation in APC gene mutation and is associated with hepatoblastoma.

Answer 11

Ans: S1 , 2, 3, 4, 5 (from outside to inside - anus =S4)

Answer 12

Preschool bone tumour: Ewing’s \<10yo , Ewing is more common, \>10yo , Osteosarcoma is more common Chloroma : AML deposits muscle/bone

Answer 13

cephalosporin

Answer 14

Primary Ciliary Dyskinesia Autosomal recessive disorder characterized by chronic cough, bronchiectasis, chronic rhinitis, and chronic sinusitis. UTD

Answer 15

carbamazepine

Answer 16

Ans: Glanzmans **Glanzamans**: manifests usually with mucocutaneous bleeding with normal platelets but no platelet aggregation on smear (due to absence of fibrinogin receptor which allows platelet bridging) **Bernard-Soulier** : low platelet, abnormal function **FXIII**: stabilization of clot, umbi adhesion defect, no easy brusing

Answer 17

RVH * Criteria for RVH on ECG * Right axis deviation * Dominant R wave in V1 (\>7mm tall or R/S ratio \>1) * Dominant S wave in V5 (\>7mm deep or R/S ration \<1) * QRS duration \<120 ms

Answer 18

?truncus arteriosis Tricuspid atresia: cyanosis at birth, systolic murmur , left or superior axis, tall P in V2 Truncus arteriosus: parasternal heave, ejection systolic murmur, ejection click, diastolic murmur, ECG : Right , left or combined hypertrophy Ebstein: cyanosis, or asymptomatic, soft systolic murmur/diastolic murmur, RAD, RBBB AVSD: superior axis

Answer 19

Migratory arthritis, syndenham chorea, erythema marginatum, carditis, subcut nodules: 5 major symptoms Fever, raised ESR/CRP, prolong PR, artharalgia : 4 minor symptoms Dx: 2 major or 1major with 2 minor **plus evidence of GAS infection**

Answer 20

Porencephalic cyst Usually congenital, aetiologies include: * perinatal cerebral ischaemia * trauma * infection * antenatal intraparenchymal haemorrhage Imaging features: * Well defined * Often corresponds with vascular territory * Lined with white matter * NOT lined with grey matter, unlike in schizencephaly and arachnoid cysts

Answer 21

Ans: Frederich's Ataxia FA : progressive ataxia, decreased power, DTR, upgoing plantars AT: progressive ataxia, talengiatasia, high alpha feto protein, muscular atrophy Heriditary motor sensory neuropathy: not ataxic

Answer 22

Ans: tracheomalacia Subglottic has flat inspiratory curve

Answer 23

?? answer?? RDW normal in thalassaemia and high in Iron def anaemia, B12 and folate deficiency, blood loss. Low MCV typical of iron deficiency.

Answer 24

risperidone

Answer 25

Ans: Chronic granulomatous disease , catalase positive organism Staph abscess, most common in skin, liver, lung, lymph node, fungal infection Hyper IgE : skin, sinopulmonary Staph infection CVID: poor immunization response, diarrhoea, FTT

Answer 26

Alpha fetaprotein HVA: catecholamine tumour Ca 19 Breast

Answer 27

Cotrimoxazole causes haemolysis in G6PD.

Answer 28

cytoskeleton

Answer 29

NPV = # true negatives/true negatives+false negatives

Answer 30

Tuberous sclerosis Sturge Weber - facial port wine stain, seizures, mental retardation and ipsilateral leptomeningeal angioma.

Answer 31

Elevated triglycerides HLH manifests with fever, hepatosplenomegally, lymphadenopathy, jaundice and a rash. HLH Criteria = 5 out of 8 of below * Fever * Splenomegally * Cytopenias affecting at least two of three lineages (haem/plt/neut) * High triglycerides and/or low fibrinogen * High ferritin * Haemophagocytosis * Low NK cell activity * High CD25 Bloods will also show markely raised ESR and CRP (but not park of criteria)

Answer 32

Selective NA reuptake inhibitor. Associated with priapism.

Answer 33

Tuberculosis The CSF usually has a high protein, low glucose and a raised number of lymphocytes. Acid-fast bacilli are sometimes seen on a CSF smear, but more commonly, M. tuberculosis is grown in culture. A spiderweb clot in the collected CSF is characteristic of TB meningitis, but is a rare finding.

Answer 34

continue and repeat LP for PCR

Answer 35

cefotaxime and gent

Answer 36

GBS is covered by Ampicillin, penicillin, 1st and 2nd generation cephalosporin. Cefotaxime is 3rd gen.

Answer 37

Only charatersitc sign of XLA is absent B cell rich tonsillar bed tissue

Answer 38

Fraction of administered drug that reaches the circulation unchanged. A medication given IV has 100% bioavailability. Bioavailability is less in PO medications due to incomplete absorption and first pass metabolism.

Answer 39

loading dose is determined by Vd Loading dose = desired concentration x Vd

Answer 40

4/12 Stable state concentration is 4-5 t½ 4 months because t ½ of IVIG is 4weeks

Answer 41

General risk 2 % Localised big reaction and generalised urticarial is \<10% Anaphylaxis reaction, 40% risk

Answer 42

Neonate is low in antithrombin, protein C UTD

Answer 43

p53 Li Fraumeni is an extremely rare autosomal dominant disorder of p53 predisposing patients to multiple cancers throughout their lifetime starting at a young age. High occurances of breast cancer, brain tumors, acute leukemia, soft tissue sarcomas, bone sarcomas, and adrenal cortical carcinoma.

Answer 44

artemisinin

Answer 45

Ifosfamide Cyclophosphamide : haemorrhagic cystitis

Answer 46

Answer: cystinosis **Lowe**: cataract, fanconi anemia, proximal RTA, phosphaturia (occulo cerebral renal syndrome) **Cystinosis**: cysteine deposits, fanconi syndrome, metabolic acidosis **Fanconi syndrome** is a disease of the proximal renal tubules of the kidney in which glucose, amino acids, uric acid, phosphate and bicarbonate are passed into the urine, instead of being reabsorbed. **_RTA_** _Blood_ * ***Normal anion gap acidosis*** * **Hyperchloremic** _Urine_ * Proximal (**Type 2** RTA) - **pH\<5.3** (Variable - may increase with alkali therapy) * Distal (**Type 1** RTA ) * **pH \>5.5** * Na⁺ \>25 meq/L * decreased ammonium _Pathology_ Proximal (Type 2) RTA * Defect in **proximal HCO3- resorption**. * Most common causes - ifosfamide, cystinosis. May be assoc with fanconi syndrome (generalised prox tubular dysfunction... ie also losing glucose, phosphate, amino acids etc) Distal (Type 1) RTA * Impaired H+ secretion in distal nephron * so urine pH is inappropriately high * Hereditary distal RTA (most common), ifosfamide

Answer 47

low complement MCD + FSGS major causes of nephrotic syndrome in kids Increased T cell dysfunction causes podocyte effacement. Histo - normal appearing glomeruli with **absence of complement and immunoglobulin deposits** **Low complement GN:** * Systemic: SLE, endocarditis, cryoglobulinemia, shunt nephritis * Isolated renal:post-infectious GN, MPGN **Normal complement GN:** * Systemic: HSP, ANCA-associted (Wegener’s, PAN), Goodpasture’s syndrome, hypersensitivity vasculitis * Isolated renal: IgA nephropathy, anti-GBM disease, RPGN

Answer 48

metanephric blastema forms nephrons not including collecting duct

Answer 49

Ans: Sarcolemma Ach binds to Ach Receptor present on sarcolemma in NMJ

Answer 50

Answer Addisons **_Addison's Disease_** Adrenal insufficiency - decreased production of glucocorticoids (cortisol) and sometimes mineralocorticoids (aldosterone). Look for hyperpigmentation of the skin, particularly areas not exposed to sunlight (due to excess melanocyte-stimulating hormone). Differentiate primary (adrenal insufficiency) from secondary (ACTH def from anterior pituitary) and tertiary (CRH from hypothalamus). Primary - Low cortisol, high ACTH Secondary - Low cortisol response to ACTH test (Chronic lack of ACTH causes impaired sensitivity of adrenal cortex) Addisonian Crisis is severe adrenal insufficiency. Presents with: * **hypoglycaemia** * **hyponatraemia** * **hyperkalemia** * **hypercalcemia** Cortisol stimulates gluconeogenisis....so impaired secretion causes hypoglycemia.

Answer 51

Benign intracranial hypertension

Answer 52

Craniopharyngeoma Slow growing tumour of Rathkes pouch. _Clinical Presentation_ * Visual abnormalities due to direct pressure on optic chiasm * Endocrine abnormalities due to pressure or damage to normal structures * Deficiency of GH, TSH, ACTH, gonadotropin. * DI frequent when Pituitary stalk is involved. * Headache in 50%

Answer 53

Ans: SNHL otoacoustic emission 1st performed test in neonates, if fail, proceed with ABR (auditory brainstem response) Babies with a risk factor who pass the neonatal screening test should have at least one diagnostic audiology assessment by 12 months of age. More frequent assessment may be indicated for children with a family history of hearing loss, cytomegalovirus (CMV) infection, syndromes associated with progressive hearing loss, craniofacial abnormalities, neurodegenerative disorders, birth trauma or culture-positive postnatal infections associated with sensorineural hearing loss.

Answer 54

Ans: night sweats Fever, night sweats, wt loss \>10%

Answer 55

Ans: FHx suicide * Psychiatric disorders * Previous suicide attempt * Family history of mood disorder and/or suicidal behavior * History of physical or sexual abuse * Exposure to violence * Biologic factors

Answer 56

Diamond - measure of effect of all studies, with lateral tips the confidence intervals. Square - Odds ratio for each study, with lines that indicated the confidence intervals. Vertical line - line of no effect. If the confidence intervals cross the line, the study cannot be said to differ from "no effect"

Answer 57

D. 200 100 mcg per dose and 200 doses per MDI

Answer 58

One litre of 0.9% Saline contains: * 154 mEq of sodium ion = 154 mmol/L * 154 mEq of chloride ion = 154 mmol/L So half normal saline contains 77 mmols sodium ion

Answer 59

Delayed Umbilicus detachment. In patients with a Leukocyte Adhesion Deficiency (LAD) syndrome, leukocytes (particularly neutrophils) cannot leave the vasculature to migrate normally into tissues under conditions of inflammation or infection. **Leukocyte adhesion deficiency I** — LAD I is characterized clinically by recurrent bacterial infections, a persistent neutrophilia that increases markedly during infection, absent pus formation (a hallmark finding), and impaired wound healing. A classic presenting infection is omphalitis, with delayed separation of the umbilical cord.

Answer 60

Used to prevent trasfusion associated GVHD. (TA-GVHD) Transfusion-associated graft-versus-host disease (TA-GVHD) is caused by viable donor lymphocytes that are transfused into a patient who either does not recognize these cells as foreign or does not have the capacity to destroy them. TA-GVHD usually begins 8 to 10 days following transfusion and is almost inevitably fatal. GVHD does not occur after most transfusions because the donor lymphocytes are destroyed by the recipient's immune system. However, this protective response does not occur in two settings, thus necessitating the use of irradiated red cells: 1. **“Directed donor” blood products** – The first occurs in immunocompetent individuals. TA-GVHD may develop in a partial HLA match when the recipient is heterozygous at an HLA allele for which the donor is homozygous. In these instances, donor WBCs will not be recognized as foreign by the host, but the donor cells may recognize host cells as foreign and mount a TA-GVHD reaction. There is an increased likelihood of this occurring in blood relatives. As a result, blood products donated by family members should be irradiated before transfusing into a blood relative. 2. **Immunodeficient recipients** – The second setting is in the recipient with decreased cellular immunity who is unable to mount a response against donor lymphocytes.

2013 Remembered Flashcards

(86 cards)