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FOP/TAS > Buzzwords > Flashcards

Buzzwords Flashcards

(79 cards)

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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
Definitive treatment for TOF
Transannular patch repair
26
Initial palliation in TOF
RV outflow tract stenting (in cath lab) or sometimes BT shunt
27
Centrotemporal spikes
Benign Rolandic epilepsy
28
3/s spike wave discharge
Absence epilepsy
29
Dermatitis herpetiformis
Coeliac disease
30
Hyperuricaemia, hyperphosphataemia, Hyperkalaemia, hypocalcaemia in a child with malignancy
Tumour lysis syndrome: | Management = hyper hydration, allopurinol or urate oxidase (rasburicase)
31
Coeliac diagnostic bloods
1. Total IgA and IgA TtG | If IgA deficient, then IgG tTG, IgG EMA, igG DGP
32
3 core symptoms of ADHD
Inattention, hyperactivity, impulsivity
33
1st line medication for ADHD
Methylphenidate (a noradrenaline dopamine reuptake inhibitor)
34
Glutamate dehydrogenase stool test
C. difficile
35
Coloboma
Charge syndrome
36
Diabetic with hypoglycaemia and | 1. Low c peptide 2. High c peptide 3. High lactate
1. Excessive exogenous insulin 2. excess sulphonylurea (e.g. gliclazide poisoning 3. Metformin poisoning
37
IUGR, jaundice, rash, diffuse cerebral calcification on MRI, hydrocephalus, macular chorioretinitis (pigmented spots on retina)
Congenital toxoplasmosis - hx of exposure to cat litter
38
Congenital varicella (1st and 2nd trimesters, < 20 weeks) Neonatal varicella (last three weeks of pregnancy)
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
IUGR, unwell, jaundice, microcephaly Later: Sensorineural hearing loss, seizures, cognitive impairment, chorioretinits (white spot on retina), blueberry muffin rash MRI: periventricular calcifications
CMV
40
Congenital parvovirus
Fetal loss of hydrops fetalis
41
Congenital heart disease (especially PDA), cataracts + pigmented retinopathy, sensorineural hearing loss, thrombocytopenia, blueberry muffin rash
Congenital rubella
42
CSF showing increased protein (monoclonal bands) with Norma, cell count
Guillian Barre syndrome
43
Absence of dystrophin protein at muscle biopsy
DMD
44
0 is within the 95% confidence interval
Result is not significant at 5%
45
Duodenal Jejunal flexure on the RIGHT of transverse process of the L1 vertebrae at the level of the pylorus
Malrotation
46
Obstruction at second part of duodenum
Pancreas divisum
47
Empirical antibiotic for meningitis
Cefotaxime or Ceftriaxone
48
Juxtaglomerular hyperplasia
Barter syndrome
49
Elevated plasma or CSF glycine
Non ketotic hyperglycinaemia
50
Acute scrotum with blue dot
Torted hydatid cyst
51
Suburst appearance at bone xray
Osteosarcoma
52
Only antidepressant used in kids
Fluoxetine
53
EEG showing chaotic pattern of high voltage slow waves and multi focal spike waves with no consistent pattern
Infantile spasm - strongly associated with mental retardation
54
Periodic complexes - normal EEG with recurrent paroxysmal burst of high voltage slow waves - in all leads
Subacute sclerosing panencephalitis - looks for high anti measles titres
55
Double bubble sign
Duodenal atresia
56
Lisch nodules
NF1
57
Clumsy in the morning, limb jerks, dropping things
Juvenile myoclonic epilepsy
58
Muscle weakness, cataracts, diabetes
``` Myotonic dystrophy In newborn (congenital myotonic dystrophy) - profound hypotonia ```
59
Rash appears after fever subsides, febrile seizure
HHV 6, roseola
60
Viral meningitis, CT showing bi temporal lobe enhancement
Herpes Simples Virus (HSV)
61
Nitroblue tetrazolium test
Chronic granulomatous disease
62
Body surface area of a 1year old 10kg child
0.49kg
63
Immunoglobulin class which crosses the placenta to give neonatal immunity
IgG
64
Parvovirus infectious period
7-10 days before infectious period till day after rash appears
65
TORCH infection associated with hydrocephalus
Toxoplasmosis
66
MMR vaccine contraindications
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
Anaphylaxis management
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
Meningitis with focal seizures, high CSF lymphocytes,
HSV
69
FU for typical UTI in <6 months
US in 6 weeks
70
FU for atypical UTI > 3yrs
US during acute illness only
71
FU for atypical UTI 6mths-3yrs
US during acute illness, DMSA at 4-6mths
72
Atypical or recurrent UTI <6mths
Acute US, DMSA at 4-6months, MCUG
73
Recurrent UTIs, >6months
US at 6weeks and DMSA at 4-6mths
74
Migraine prophylaxis
Propranolol or topiramate (teratogenic)
75
Medication overuse headache
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
Acute migraine treatment
NSAID (ibuprofen) or paracetamol Adjunct: antiemetic if accompanied by nausea (cyclizine, promethazine, prochorperazine) 2nd line: Consider adding nasal sumatriptan in children > 12 years
77
When should paracetamol levels be checked after an OD?
4 hours
78
ROP screening criteria
<32 weeks or <1501g
79
ROP screening timing
<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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