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Flashcards in 2013 Remembered Deck (86):
1

*** 2013 Remembered ***

weight loss in CF despite improving FEV, no stool symptoms

Diabetes Mellitus

2

***2013 Remembered***

 

child with longstanding history of respiratory disease

  • ph 7.35
  • pCO2 63
  • HCO3 33

Type of acidosis/compensation

Respiratory acidosis with metabolic compensation

3

***2013 Remembered***

hypoglycaema without ketosis, low insulin levels

  1. MCAD
  2. GH def
  3. cortisol deficiency

MCAD

4

***2013 Remembered Qs***

??diagnosis - fever, sore throat, rash with amoxycillin, LN, splenomegaly.

 

EBV or scarlett fever

EBV

5

***2013 Remembered***

HPV vaccine covers all of these except –

  1. respiratoy papillomatosis
  2. penile cancer
  3. anal warts
  4. plantar warts
     

  plantar warts (Molluscum contagiosum)

6

***2013 Remembered Q***

Child with gastro illness and brief GTC seizure ?cause

  1. rotavirus
  2. campylobacter
  3. salmonella

rotavirus

  • ranging from asymptomatic to severe dehydration, seizure and death
  • immunization reduce the incidence of seizure.

7

***2013 Remembered***

 

How does Fragile X premutation manifest in males?

  1. FXTAS
  2. Mental Retardation
  3. Infertility

FXTAS

  • Premutation have 50-200 CGG repeats
  • mental retardation gene remains transcriptionally active
  • FXTAS (FX associated tremor ataxia syndrome) in the later age
  • Classical FXS does not occur
  • Premature ovarian insufficiency

8

*** 2013 Remembered ***

deafness most likely cause

  1. connexin 26
  2. CMV
  3. Usher
  4. Pendred

Connexin 26

Mutations in the GJB2 gene that encodes the protein connexin 26 (CX26) on chromosome 13 cause approximately half of all bilateral moderate-to-profound congenital hearing loss in nonsyndromic children

9

***2013 Remembered***

mother father unaffected - three sons affected one daughter not which inheritance pattern – options including two possibilities each

  1. XL recessive/AD,
  2. XL recessive/AR
  3. AR/AD
  4. mitochondrial/XL dominant)

XL recessive/AR

10

***2013 Remembered***

Complete Androgen Insensitivity Syndrome in a boy, who is most likely to be affected

  1. maternal aunt
  2. paternal aunt
  3. brother
  4. father
  5. mother

X linked recessive pattern, brother is 50% chance of disease, aunty is 50% carrier

11

***2013 Remembered***

genogram with affected males and females, non-affected female passes to children both male and female, male passes to female child

  1. AD with variable penetrance
  2. mitochondrial
  3. AR
  4. XLR
  5. XLD

AD with variable penetrance

12

***2013 Remembered***

heteroplasmy due to

  1. number of mitochondria in cell
  2. wild mitochondria DNA

  • Mixture of mitochondria containing mutant DNA and normal DNA

13

***2013 Remembered***

 

Dysphagia, raynauds, calcinosis and telagiectasia and....?

  1. systemic sclerosis
  2. SLE
  3. idiopathic Raynauds
  4. vasculitis

Systemic sclerosis

CREST

Calcinosis, Raynauds, Eosophageal dysmotility, Scleroderma, Talengiactasia

14

***2013 Remembered***

Pauciarticular JIA, partial response to ibuprofen

?next treatment

  1. intra-articular steroids
  2. systemic
  3. naproxen
  4. MTX
  5. infliximab

Intra-articular steroids (because pauciarticular, if polyarticular next line would be infliximab because too many joints to inject)

15

***2013 Remembered***

Which drug increases half life of lamotrigine?

  1. sodium valproate
  2. carbamazepine
  3. phenytoin

Sodium Valproate

16

***2013 Remembered***

Side effect of tacrolimus

  1. HTN
  2. hypokalaemia
  3. hypermagasemia
  4. hirsutism

  • HTN
  • neurotoxicity
  • DM
  • hyperkalaemia
  • hypomagaemia
  • hyperuricaemia
  • alopecia

17

***2013 Remembered***

Complication of diazoxide

  • fluid overload and CCF,
  • HTN
  • dehydration
  • DKA 

fluid overload and CCF, mechanism unknown 

18

***2013 Remembered Qs***

Non-diarrhoeal HUS caused by defect in?? 

  • Complement dysregulaton accounts for most of the non-Shiga toxin producing E Coli cases of HUS.
  • Complement gene mutation or antibody to complement factor B
  • Family history present
  • Infections: Shiga Toxin E Coli, Strep Pneumoniae, HIV

19

***2013 Remembered***

Child with day time sleepiness, sometimes snores, asleep in class, difficult to rouse in morning, collapses when laughing

  • narcolepsy
  • OSA
  • seizure disorder

Narcolepsy

Collapsing when laughing (or with extreme emotion) called cataplexy - specific to narcolepsy.

20

***2013 Remembered***

absorption not affected by pancreatic insufficiency

  1. CHO
  2. fat
  3. protein
  4. vitamin a

CHO

21

**Remembered Q 2013**

 

In DKA, what is the source of increased anions on a blood gas?

Ketones

Normal anion gap is 8-16

22

***2013 Remembered***
 

15 mo elevated TSH, elevated T4, developmental delay

?cause

  • resistance
  • pituitary tumour
  • ectopic thyroid
  • Hashimotos

Resistance to TH:

High serum T3, free T3, T4 and free T4 within normal range or increase TSH.

23

***2013 Remembered***

8yo not obese, no acanthosis with high HbA1c

Uncle/aunt have similar not obese

  1. MODY
  2. TI
  3. TII

MODY

Three Main Features of MODY are:

  1. Diabetes often develops before the age of 25
  2. Diabetes runs in families from one generation to the next
  3. Diabetes may be treated by diet or tablets and does not always need insulin treatment

Autosomal Dominant inheritance

Genes involved in 87% of MODY include:

  • HNF1A (70% of cases-lowers amount of insulin secreted by pancreas, worsens with age)
     
  • Glucokinase (glucose sensor for pancreas to secrete insulin in response to high glucose. Changes in this gene lead to a fasting glucose of 5.5-8mmol/L. Normal is around 5.5)
     
  • HNF1B (including Renal Cysts and Diabetes (RCAD))
     
  • HNF4A (switch to turn genes on and off. Acts by decreasing amount of insulin secreted by pancreas. Decreased insulin with increasing age)
     
  • IPF1
     
  • NEUROD1

 

24

***2013 Remembered***

Teenager with heavy backpack - intact sensation but winging of the scapula.

Which nerve affected? 

 

Long thoracic nerve affecting the latsimus dossi

25

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

A. AD with variable penetrance

26

Heteroplasmy due to

?number of mitochondria in cell

?wild mitochondria DNA

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.

27

Langerhans Cell Histiocytosis- which hormone is deficient?

  • ADH/vasopressin
  • renin
  • GH
  • TSH
  • cortisol

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%.

28

5/52 with worsening positing and FTT, loose stools from birth - hypochloraemic hypokalaemic metabolic alkalosis - most likely cause?

  • pyloric stenosis
  • congenital chloride losing diarrhea
  • CF
  • GORD

congenital chloride losing diarrhea

29

prominent forehead, jaundice (conjugated) systolic murmur ?cause

  • peripheral PS
  • AS
  • MR
  • supravalvular AS

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

30

Neonatal cooling for HIE...what temperature?

33.5 degrees

31

Cause of bradycardia in HIE ??

  • cooling
  • HIE
  • hypoglycaemia
  • CHB

HIE

32

Normal GGT with elevated conjugated bilirubin and cholestasis

  • a1 antitrypsin
  • choledochal cyst
  • biliary atresia
  • neonatal hepatitis
  • progressive familial intrahepatic cholestasis

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

33

CGH is limited in diagnosing turners in which situation?

  • Mosaic turners
  • Ring chromosome
  • Short arm deletion
  • Xp duplicate chromosome

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.

34

Metabolic alkalosis and HTN  with high renin and normal electrolytes

  • Liddle
  • 11 beta hydroxylase def
  • phaeochromocytoma
  • Cushings
  • renal artery stenosis

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.

35

Hepatoblastoma associated with??

  • FAP association
  • APC
  • BRCA
  • li fraumeni

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

36

(VZV perianal) dermatome S2 vs S1 vs L1-3 vs L4-5

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

37

Most common malignant bone tumour in preschool  

  • Ewings
  • osteosarcoma
  • chloroma
  • rhabdomyosarcoma
  • chondrosarcoma

Preschool bone tumour: Ewing’s

<10yo , Ewing is more common, >10yo , Osteosarcoma is more common

Chloroma : AML deposits muscle/bone

38

Best BBB penetration

  • ciprofloxacin
  • metronidazole
  • fluconazole
  • vancomycin
  • penicillin
  • cephalosporin

cephalosporin

39

8yo with chronic moist cough, CT chest ?bronchiectasis, OM with grommets x4 and sinus disease

  • Primary Ciliary Dyskinesia
  • Cystic Fibrosis
  • IgA deficiency
  • recurrent aspiration

Primary Ciliary Dyskinesia

Autosomal recessive disorder characterized by chronic cough, bronchiectasis, chronic rhinitis, and chronic sinusitis.

UTD

40

Best anti epileptic for sexually active adolescent with complex partial seizures

  • lamotrigine
  • valproate
  • carbamazepine
  • ethosuximide
  • phenytoin

consider interaction with OCP, teratogens etc

carbamazepine

41

Slight anaemia otherwise normal FBC, APTT and PT with bruising and bleeding boy bleeding frenulum at 15mo ?cause 

  • glanzmans
  • FXIII deficiency
  • Bernard soulier
  • liver disease

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

42

ECG tall R) wave and upright T in V1 

  • RVH
  • biventricular hypertrophy
  • LVH
  • normal

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

43

??child diagnosed with ?CHD asymptomatic parasternal heave, systolic and diastolic murmur LLSE ?RBBB and R) axis on ECG

  • Ebsteins
  • tricuspid atresia
  • truncus
  • AVSD

?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 

44

Which is part of revised jones criteria

  • ASOT
  • erythema marginatum
  • FHx

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

45

What is this lesion in a 5 month old with motor delay?

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

46

Progressive ataxia, decreased power, decreased DTR, upgoing plantars

  • Friedrich's ataxia
  • HMSN
  • AT

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

47

PFT flattened exp curve normal FVC, decreased IF50

  • Tracheomalacia
  • asthma
  • subglottic haemangioma

Ans: tracheomalacia

Subglottic has flat inspiratory curve

48

Hb 85 low MCV and low RDW 9

  • B-thalassaemia
  • Iron Def Anaemia
  • lead poisoning
  • sideroblastic anaemia
  • chronic disease

?? answer??

RDW normal in thalassaemia and high in Iron def anaemia, B12 and folate deficiency, blood loss.

Low MCV typical of iron deficiency.

49

Only drug with randomized placebo controleed ?blinded evidence in management of behavioural problems in Autism

  • haloperidol
  • risperidone
  • olanzapine
  • fluoxetine

risperidone

50

Staph liver abscess ?immunodeficiency associated

  • hyper iGE
  • Chronic granulomatous disease
  • CVID
  • WAS

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

51

hepatic tumour elevated tumour marker

  • aFP
  • ca19.9
  • HVA 

Alpha fetaprotein

HVA: catecholamine tumour

Ca 19 Breast
 

52

G6PD drug to avoid

  • cefepime
  • clindamycin
  • cotrimoxazole
  • ciprofloxacin

Cotrimoxazole causes haemolysis in G6PD.

53

Hereditary Spherocytosis is a defect in?

  • haemoglobin
  • enzyme
  • cytoskeleton
  • protein

cytoskeleton

54

calculate NPV of screening test

NPV = # true negatives/true negatives+false negatives

55

Boy with history of seizures and facial rash  

  • Tuberous Sclerosis
  • NF1
  • SLE
  • Sturge Weber Sydrome
  • incontinentia pigmenti

Tuberous sclerosis

 

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

56

What is part of HLH diagnostic criteria? 

  • elevated triglycerides
  • LDH>600
  • CRP

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)

57

Mechanism of action atomoxetine?

Selective NA reuptake inhibitor.

 

Associated with priapism.

58

CSF with lymphocytosis, negative microscopy, low glucose, high protein

  • TB
  • bacteria
  • enterovirus
  • tumour

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.

59

6yo with seizures and encephalopathy.

CSF is negative for HSV PCR, negative microscopy.

Aciclovir started for suspected HSV with no improvement in 24 hours.  ? management

cease

continue

change to valaciclovir or ganciclovir

continue and repeat LP for PCR

60

treatment for gram negative coccobacillus on CSF culture

  • cefotaxime
  • penicillin and gentamicin
  • cefotaxime and gent
  • vancomycin and penicillin
  • vancomycin and flucloxacillin

cefotaxime and gent

61

Ampicillin and cefotaxime in neonate - apart from listeria what else does ampicillin cover specifically that cef doesn’t

  • enterococcus
  • e coli
  • haemophilus
  • pseudomonas
  • GBS

GBS is covered by Ampicillin, penicillin, 1st and 2nd generation cephalosporin.

Cefotaxime is 3rd gen.

62

characteristic of X-Linked Agammglobulinaemia (Bruton’s)

  • absent tonsillar bed tissue
  • lymphadenopathy
  • HSM

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

63

What is bioavailability?

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.

64

Loading dose is determined by?

  • volume of distribution
  • half life
  • clearance
  • first pass

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

65

time to achieve stable trough levels of IVIG with monthly infusion

4/12

6/12

8/12

2/12

4/12

Stable state concentration is 4-5 t½ 

4 months because t ½ of IVIG is 4weeks

66

risk of bee sting anaphylaxis post extended local reaction

5%

15%

25% etc

General risk 2 %

Localised big reaction and generalised urticarial is <10%

Anaphylaxis reaction, 40% risk

67

Which clotting factor is low in neonate?

  • protein C
  • FVIII
  • fibrinogen
  • vWF

Neonate is low in antithrombin, protein C

UTD

68

 li fraumeni gene defect

  • p53
  • BRCA
  • PTEN
  • RT1
  • VHL

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.

69

Recommended treatment for malaria

  • quinine
  • chloroquine
  • artemesinin combination
  • mefloquine

artemisinin

70

Proteinuria, glycosuria, phosphaturia (proximal RTA) cause  

  • ifosfamide
  • cyclophosphamide

Ifosfamide

Cyclophosphamide : haemorrhagic cystitis

71

urinalysis showing proximal RTA – fanconis and corneal deposits

  • cystinosis
  • Lowe

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

72

Finding least in keeping with diagnosis of minimal change disease in child with nephrotic syndrome

  • HTN
  • haematuria
  • low complement
  • elevated Cr

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

73

embryological origin of glomerulus

  • pronephros
  • mesonephros
  • ureteric bud
  • wolfian duct
  • metanephric blastema

metanephric blastema forms nephrons not including collecting duct

74

Ach acts on what at NMJ

  • sarcoplasm
  • dystrophin
  • troponin
  • sacrolemma
  • rapsyn

Ans: Sarcolemma

Ach binds to Ach Receptor present on sarcolemma in NMJ

75

1st line treatment in depression?

  • CBT
  • SSRI
  • family therapy
  • interpersonal

CBT

76

UTI and low sodium (122) high potassium (6.5) vomiting and pseudohypoaldosteronism assoc with UTI ?

  • Addisons
  • Cushings

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.

 

77

Papilloedema, Normal CT, diploplia on lateral gaze

  • Benign Intracranial Hypertension
  • tumour
  • MS

Benign intracranial hypertension

78

14yo suprasellar solid/cystic lesion with GH deficiency and delayed puberty 

  • craniopharyngioma
  • pilocytic astrocytoma
  • optic glioma
  • germ cell tumour

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%

79

Neonatal hearing screening is most likely to miss..? 

  • ruptured TM
  • stapes disease
  • SNHL
  • obstructed external canal

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.

80

B symptoms include...?

  • 5% weight loss
  • drenching night sweats
  • itch
  • bone pain

Ans: night sweats

Fever, night sweats, wt loss >10%

81

Suicide risk in adolescent male

  • gender
  • depressed mood
  • ideation with no plan
  • FHx suicide

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

82

What do the diamond, squares and lines mean on a Forest Plot?

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"

83

How many puffs in a salbutamol MDI

A. 50

B. 100

C. 150

D. 200

E. 300

D. 200

100 mcg per dose and 200 doses per MDI

84

How many mmol of normal saline in 1L of 1/2 normal saline?

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

85

***2013 Remembered Q***

 

What differentiates Leukocyte Adehsion Deficiency from other neutrophil disorders?

  1. gingivitis
  2. periodic fever
  3. delayed umbi detachment

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.

 

86

***2013 Remembered Q***

 

What is the reason for irradiating blood products? 

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.