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MSRA 2023 > ID/haem/immuno/genetics > Flashcards

ID/haem/immuno/genetics Flashcards

1
Q

Likelihood of conceiving a child with Downs syndrome >40yo woman?

A

1:100

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2
Q

Likelihood of conceiving a child with Downs syndrome >45yo woman?

A

1:50

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3
Q

what is the gene affected in thalassaemia?

A

globin gene

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4
Q

Chronic myeloid leukaemia
what is the genetic defect most commonly seen? (90%)

A

BCR ABL gene - Chr 9:22
“philadelphia chromosome”

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5
Q

If you suspect Lyme disease but see no rash, what initial investigation would be ordered?

A

borrelia burgdorefi antibodies

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6
Q

Lyme disease
- features apart from bullseye rash and flu like sx?

A

Arthritis
Neuro:
- CN7 palsy, meningitis
Cardiac:
- heart block, myopericarditis

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7
Q

Name 4 live vaccines in UK schedule

A

BCG
rotavirus
MMR
nasal flu

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8
Q

Bartonella disease aka ?
How does it present?

A

Cat scratch disease
initially crusty papule –> tender red regional lymphadenopathy 1-3 weeks later

often spontaneously drains

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9
Q

45XO
features?

A

Turners syndrome
- short
- webbed neck
- wide spaced nipples
- amenorrhoea

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10
Q

minimum period of observation after anaphylaxis

A

6 hours

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11
Q

if investigation is required, what is the best investigation for suspected allergic rhinitis?

A

skin prick

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12
Q

most common cause of acute haemolytic transfusion reaction

A

ABO incompatibility

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13
Q

treatment of CML

A

Imatinib

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14
Q

Main difference between MM and MGUS

A

MGUS has no evidence of end organ involvement i.e.
no hypercalcemia/renal failure/anaemia/osteolytic lesions

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15
Q

Causative organism in HFM disease?

A

Coxsackie

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16
Q

Features of fragile X

A

(a fragile man needs big balls!)
- large testes
- long face and ears
- intellectual disability

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17
Q

Trisomy 13 aka?
2 key features?

A

Patau syndrome
- Cardiac abnormalities
- midline defects - failure of brain to separate into 2 hemispheres, cleft lip
- polydactyly

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18
Q

2nd most common trisomy after downs syndrome

A
  1. Downs [21]
  2. Edwards [18]
  3. Patau [13]
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19
Q

megaloblastic vs non megaloblastic

A

megaloblastic = prescence of hypersegmented neutrophils

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20
Q

+ve intrinsic factor antibodies
diagnosis?

A

pernicious anaemia

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21
Q

MCV in sickle cell anaemia

A

normal!

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22
Q

how long post exposure will HIV antibodies be positive?

A

usually within 4-6 weeks
if antibody negative at 3 months, can be reassured pt is hiv -ve.

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23
Q

System used to stage hodgkins lymphoma?

A

Ann Arbor

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24
Q

Curative treatment for CML

A

allogenic bone marrow transplant

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25
Q

Multiple myeloma is a neoplasm of which cells?

A

plasma cells

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26
Q

ALL - is a primary neoplasm of _______?
explain?

A

bone marrow
- increased lymphoblast production which crowds the bone marrow and results in lesser production of functional lymphocytes

27
Q

Large spleen + high WCC
diagnosis?

A

CML (more likely) or CLL

28
Q

Most common leukaemia in the western world?

A

CLL

29
Q

in chronic lymphocytic leukaemia, what blood test will be raised?
what cexamination findings?

A

lymphocyte count will be raised
- very vague sx - 90% asymptomatic

30
Q

Stain for malaria films?

A

Giemsa

31
Q

Schistosomiasis - typical travel hx?

A

‘swimmers itch’
therefore swimming in freshwater in endemic areas eg Thailand

32
Q

Typical presentation of toxoplasmosis in immunocompetent individual?

A

flu like sx

33
Q

Heinz bodies
diagnosis?

A

G6Pd deficiency

34
Q

Basophilic stippling - 2 causes?

A

pernicious anaemia
LEAD poisoning

35
Q

Cryptococcus vs cryptosporidiosis
- organism type?
- common clinical manifestations with infection?

A

Cryptococcus
- fungus
- meningoencephalitis
CryptosporiDiosis
- protozoan
- Diarrhoea

36
Q

Most common presentation of Toxoplasmosis infection in HIV +ve patients?

A

Focal encephalitis

37
Q

India ink staining

A

TB

38
Q

Returning traveller from tropical region
fever, facial flushing +++

A

Dengue

39
Q

most common cause of bacterial meningitis in adults

A

strep pneumoniae

40
Q

most common cause of travellers diarrhoea

A

E coli

41
Q

name 6 encapsulated bacteria

A

Strep pneumoniae
Group B strep
Klebsiella
Haemophilus influenzae
Neiserria Meningitidis
Salmonella typhi

42
Q

child with egg allergy - which vaccines to be cautious of?

A

yellow fever
some influenza vaccines

43
Q

Most common presentation of Peutz Jeghers syndrome

A

intussucception from intestinal polyps

note they also have pigmented lesions on buccal mucosa

44
Q

Raised Hb >185, splenomegaly, pruritis ++
diagnosis?

  • they also have a tender sternum -> what are you concerned about?
A

Polycythemia vera

converted to AML

45
Q

splenomegaly and JAK2 mutations
?diagnosis

A

Polycythemia vera

46
Q

In Polycythemia vera, which blood tests will be raised in FBC?

A

Hb
also other myeloid cells involved so neutrophils and plts raised

47
Q

Difference in diagnosis of aplastic anaemia and myelodysplastic syndrome

A

BONE MARROW
aplastic - acellular
myelodysplastic- lotsa cells

48
Q

treatment for major bleeding, INR >10 and on warfarin

A

stop warfarin duh
IV vit K
prothrombin complex

49
Q

prophylaxis given to close contacts of confirmed bacterial meningitis

A

ciprofloxacin

50
Q

Dose of adrenaline in anaphylaxis
for adults
for 7yo
for 3yo

A

> 12yo: 500mcg
6-12yo: 300mcg
6 months to 6yo - 150mcg

51
Q

Ghon focus vs ghon complex

A

Ghon focus - caseating granuloma
ghon complex - associated mediastinal lymphadenopathy

52
Q

Friederich’s ataxia - how is this inherited?

A

Autosomal recessive

53
Q

Klinefelters
what is the chromosomal abnormality
- 2 key features?

A

extra X chromosome
tall
gynaecomastia

54
Q

PKU - what is the defect?
typical appearance? smell/?

A

phenylalanine dehydroxylase deficiency
- phenyl–> fair, blue eyes
smells mousy/musty

55
Q

Sweat and urine smells very sweet in a neonate with very poor feeding + vomiting

A

msud

56
Q

Neonate with seizures and stinks of sweaty feet
diagnosis?

A

Isovaleric aciduria

smells ‘vile’

57
Q

young woman with red scaly dermaititis, and various neuro sx: spasticity, ataxia, tremors. diagnosis

A

Hartnup

58
Q

Impetigo - name 2 causative organisms

A

staph aureus
strep pyogenes

59
Q

vaccines contraindicated in pts with severe egg allergy

A

influenza
yellow fever

60
Q

what are the coag studies and platelet count in vWF disease?

A

normal platelets
prolonged APTT –> because vWF also affects factor 8
normal PT
prolonged bleeding time

61
Q

chlamydia in pregnancy - treatment?
do you test the partner?

A

azithromycin (bcos doxy is contraindicated)

  • can test the partner, but partner should be treated regardless of the result
62
Q

red flags for children w constipation

A
  • <6weeks old
  • delayed meconium passage (>24 hrs old)
  • FTT
  • persistent vomiting
  • abdo mass
  • ribbon like stools
63
Q

antibody test for glandular fever

A

postive heterophile antibodies

  • will also have atypical lymphocytosis

MSRA 2023 (14 decks)

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