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FOP/TAS > Buzzwords > Flashcards

Buzzwords Flashcards

1
Q

Ectopia lentis

A

Homocystinuria (downwards and inwards) and Marfans (upwards and outwards)

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2
Q

Stellate iris

A

Williams Syndrome

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3
Q

Streak gonads

A

Turners syndrome

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4
Q

Athymia

A

DiGeorge syndrome

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5
Q

ANA and dsDNA positive

A

SLE

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6
Q

Fixed split second heart sound

A

ASD

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7
Q

HLA DQ2 DQ8

A

Coeliac

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8
Q

Recurrent episodes of swelling, persistent low C4

A

Hereditary angioedema (C1 inhibitor deficiency)

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9
Q

Boot shaped heart

A

TOF

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10
Q

Erythema migrans

A

Lyme disease

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11
Q

Erythema marginatum

A

Rheumatic fever

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12
Q

McCune Albright Syndrome

A

Irregular patches of hyperpigmentation, fibrous dysplasia, endocrine hyperplasia (precocious puberty, hyperthyroidism)

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13
Q

Butterfly vertebrae

A

Alagille syndrome

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14
Q

Saccharine mucocilliary clearance test

A

Primary ciliary dyskinesia

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15
Q

Microcytic anaemia

A

Iron def, lead poisoning, sickle cell, beta thalasaemia

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16
Q

Basophilic strippling

A

Heavy metal poisoning, b thalasaemia

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17
Q

Asplenia blood film

A

I.e. in sickle cell or post splenectomy = target cells, howell jolly bodies

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18
Q

Cholestasis, congential HD, dysmorphia

A

Alagille syndrome

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19
Q

Ambiguous genitalia, salt wasting crisis (hyponatraemia, Hyperkalaemia)

A

CAH

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20
Q

CAH diagnosic bloods

A

Hypoglycaemia (due to hypocortisolism), hyponatraemia and Hyperkalaemia (due to hypoaldosteronism), elevated 17-a-hydroxyprogesterone

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21
Q

Anticonvulsant which causes hirsutism

A

Phenytoin

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22
Q

Topical steroid ladder

A 
Dirty - dermovate (very potent) 
Monsters - mometasome
Beat - Betnovate
European - eumovate
Hydrangeas - hydrocortisone (weak)
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23
Q

Prognostic factors in AML and ALL

A

Age <1 and >10 = high risk in B cell ALL
high initial WBC count
ALL subtype - mature B cell worse than early B cell
Hyperdiploidy (>50 chromosomes) is favourable
Hypodiploidy (<44 chromosomes) is less favourable
Response to initial treatment - remission is favourable
Translocations: 12 and 21 translocation is favourable
9 and 22 (Philadelphia) and 4 and 11 are unfavourable

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24
Q

Sweat chloride > 60mmol/l

A

Diagnostic of CF

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25
Q

Definitive treatment for TOF

A

Transannular patch repair

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26
Q

Initial palliation in TOF

A

RV outflow tract stenting (in cath lab) or sometimes BT shunt

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27
Q

Centrotemporal spikes

A

Benign Rolandic epilepsy

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28
Q

3/s spike wave discharge

A

Absence epilepsy

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29
Q

Dermatitis herpetiformis

A

Coeliac disease

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30
Q

Hyperuricaemia, hyperphosphataemia, Hyperkalaemia, hypocalcaemia in a child with malignancy

A

Tumour lysis syndrome:

Management = hyper hydration, allopurinol or urate oxidase (rasburicase)

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31
Q

Coeliac diagnostic bloods

A
  1. Total IgA and IgA TtG

If IgA deficient, then IgG tTG, IgG EMA, igG DGP

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32
Q

3 core symptoms of ADHD

A

Inattention, hyperactivity, impulsivity

33
Q

1st line medication for ADHD

A

Methylphenidate (a noradrenaline dopamine reuptake inhibitor)

34
Q

Glutamate dehydrogenase stool test

A

C. difficile

35
Q

Coloboma

A

Charge syndrome

36
Q

Diabetic with hypoglycaemia and

1. Low c peptide 2. High c peptide 3. High lactate

A
  1. Excessive exogenous insulin 2. excess sulphonylurea (e.g. gliclazide poisoning 3. Metformin poisoning
37
Q

IUGR, jaundice, rash, diffuse cerebral calcification on MRI, hydrocephalus, macular chorioretinitis (pigmented spots on retina)

A

Congenital toxoplasmosis - hx of exposure to cat litter

38
Q

Congenital varicella (1st and 2nd trimesters, < 20 weeks)

Neonatal varicella (last three weeks of pregnancy)

A

Congenital varicella = disseminated severe skin/eye/bone lesions, neurological involvement, limb hypoplasia - fatal in 30%

Neonatal varicella = highest risk is perinatal (-5 to +2 days) around delivery due to high viral load but not enough time to acquire antibodies = life threatening disseminated disease, high mortality

Postnatal acquired disease = mild moderate disease

39
Q

IUGR, unwell, jaundice, microcephaly
Later: Sensorineural hearing loss, seizures, cognitive impairment, chorioretinits (white spot on retina), blueberry muffin rash
MRI: periventricular calcifications

A

CMV

40
Q

Congenital parvovirus

A

Fetal loss of hydrops fetalis

41
Q

Congenital heart disease (especially PDA), cataracts + pigmented retinopathy, sensorineural hearing loss, thrombocytopenia, blueberry muffin rash

A

Congenital rubella

42
Q

CSF showing increased protein (monoclonal bands) with Norma, cell count

A

Guillian Barre syndrome

43
Q

Absence of dystrophin protein at muscle biopsy

A

DMD

44
Q

0 is within the 95% confidence interval

A

Result is not significant at 5%

45
Q

Duodenal Jejunal flexure on the RIGHT of transverse process of the L1 vertebrae at the level of the pylorus

A

Malrotation

46
Q

Obstruction at second part of duodenum

A

Pancreas divisum

47
Q

Empirical antibiotic for meningitis

A

Cefotaxime or Ceftriaxone

48
Q

Juxtaglomerular hyperplasia

A

Barter syndrome

49
Q

Elevated plasma or CSF glycine

A

Non ketotic hyperglycinaemia

50
Q

Acute scrotum with blue dot

A

Torted hydatid cyst

51
Q

Suburst appearance at bone xray

A

Osteosarcoma

52
Q

Only antidepressant used in kids

A

Fluoxetine

53
Q

EEG showing chaotic pattern of high voltage slow waves and multi focal spike waves with no consistent pattern

A

Infantile spasm - strongly associated with mental retardation

54
Q

Periodic complexes - normal EEG with recurrent paroxysmal burst of high voltage slow waves - in all leads

A

Subacute sclerosing panencephalitis - looks for high anti measles titres

55
Q

Double bubble sign

A

Duodenal atresia

56
Q

Lisch nodules

A

NF1

57
Q

Clumsy in the morning, limb jerks, dropping things

A

Juvenile myoclonic epilepsy

58
Q

Muscle weakness, cataracts, diabetes

A 
Myotonic dystrophy 
In newborn (congenital myotonic dystrophy) - profound hypotonia
59
Q

Rash appears after fever subsides, febrile seizure

A

HHV 6, roseola

60
Q

Viral meningitis, CT showing bi temporal lobe enhancement

A

Herpes Simples Virus (HSV)

61
Q

Nitroblue tetrazolium test

A

Chronic granulomatous disease

62
Q

Body surface area of a 1year old 10kg child

A

0.49kg

63
Q

Immunoglobulin class which crosses the placenta to give neonatal immunity

A

IgG

64
Q

Parvovirus infectious period

A

7-10 days before infectious period till day after rash appears

65
Q

TORCH infection associated with hydrocephalus

A

Toxoplasmosis

66
Q

MMR vaccine contraindications

A

Contra-indicated in patients with a confirmed anaphylactic reaction to a preceding dose of a vaccine containing the same antigens or vaccine component.

People who can not have live vaccines

67
Q

Anaphylaxis management

A

Acute resus: IM adrenaline, assess and repeat in 5 mins if poor response, remove trigger, give oxygen at highest possible concentration, IV access ABD rapid fluid challenge 20ml/kg bolus, continuous ECG and Sats monitoring

After initial resus: slow IV/IM chlorphenamie and hydrocortisone

68
Q

Meningitis with focal seizures, high CSF lymphocytes,

A

HSV

69
Q

FU for typical UTI in <6 months

A

US in 6 weeks

70
Q

FU for atypical UTI > 3yrs

A

US during acute illness only

71
Q

FU for atypical UTI 6mths-3yrs

A

US during acute illness, DMSA at 4-6mths

72
Q

Atypical or recurrent UTI <6mths

A

Acute US, DMSA at 4-6months, MCUG

73
Q

Recurrent UTIs, >6months

A

US at 6weeks and DMSA at 4-6mths

74
Q

Migraine prophylaxis

A

Propranolol or topiramate (teratogenic)

75
Q

Medication overuse headache

A

3 months or more of:
1. Triptans, opioids, ergo TS or combination analgesia doe 10 days/month or more
OR
2. Paracetamol, aspirin, or NSAID for 15 days/month or more

76
Q

Acute migraine treatment

A

NSAID (ibuprofen) or paracetamol
Adjunct: antiemetic if accompanied by nausea (cyclizine, promethazine, prochorperazine)
2nd line: Consider adding nasal sumatriptan in children > 12 years

77
Q

When should paracetamol levels be checked after an OD?

A

4 hours

78
Q

ROP screening criteria

A

<32 weeks or <1501g

79
Q

ROP screening timing

A

<27 weeks: at 30-31 weeks gestation

27-32 weeks: should be at 4-5 weeks age

FOP/TAS (9 decks)

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