ID/haem/immuno/genetics Flashcards by Wakana Yasuda

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

1:100

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

1:50

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what is the gene affected in thalassaemia?

globin gene

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

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

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

borrelia burgdorefi antibodies

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

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

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Name 4 live vaccines in UK schedule

BCG
rotavirus
MMR
nasal flu

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Bartonella disease aka ?
How does it present?

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

often spontaneously drains

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45XO
features?

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

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minimum period of observation after anaphylaxis

6 hours

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

skin prick

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most common cause of acute haemolytic transfusion reaction

ABO incompatibility

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treatment of CML

Imatinib

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Main difference between MM and MGUS

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

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Causative organism in HFM disease?

Coxsackie

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Features of fragile X

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

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Trisomy 13 aka?
2 key features?

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

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2nd most common trisomy after downs syndrome

Downs [21]
Edwards [18]
Patau [13]

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megaloblastic vs non megaloblastic

megaloblastic = prescence of hypersegmented neutrophils

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+ve intrinsic factor antibodies
diagnosis?

pernicious anaemia

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MCV in sickle cell anaemia

normal!

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how long post exposure will HIV antibodies be positive?

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

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System used to stage hodgkins lymphoma?

Ann Arbor

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Curative treatment for CML

allogenic bone marrow transplant

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Multiple myeloma is a neoplasm of which cells?

plasma cells

ALL - is a primary neoplasm of _______? explain?

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

Large spleen + high WCC diagnosis?

CML (more likely) or CLL

Most common leukaemia in the western world?

CLL

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

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

Stain for malaria films?

Giemsa

Schistosomiasis - typical travel hx?

'swimmers itch' therefore swimming in freshwater in endemic areas eg Thailand

Typical presentation of toxoplasmosis in immunocompetent individual?

flu like sx

Heinz bodies diagnosis?

G6Pd deficiency

Basophilic stippling - 2 causes?

pernicious anaemia LEAD poisoning

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

Cryptococcus - fungus - meningoencephalitis CryptosporiDiosis - protozoan - Diarrhoea

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

Focal encephalitis

India ink staining

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

Dengue

most common cause of bacterial meningitis in adults

strep pneumoniae

most common cause of travellers diarrhoea

E coli

name 6 encapsulated bacteria

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

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

yellow fever some influenza vaccines

Most common presentation of Peutz Jeghers syndrome

intussucception from intestinal polyps note they also have pigmented lesions on buccal mucosa

Raised Hb >185, splenomegaly, pruritis ++ diagnosis? - they also have a tender sternum -> what are you concerned about?

Polycythemia vera converted to AML

splenomegaly and JAK2 mutations ?diagnosis

Polycythemia vera

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

Hb also other myeloid cells involved so neutrophils and plts raised

Difference in diagnosis of aplastic anaemia and myelodysplastic syndrome

BONE MARROW aplastic - acellular myelodysplastic- lotsa cells

treatment for major bleeding, INR >10 and on warfarin

stop warfarin duh IV vit K prothrombin complex

prophylaxis given to close contacts of confirmed bacterial meningitis

ciprofloxacin

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

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

Ghon focus vs ghon complex

Ghon focus - caseating granuloma ghon complex - associated mediastinal lymphadenopathy

Friederich's ataxia - how is this inherited?

Autosomal recessive

Klinefelters what is the chromosomal abnormality - 2 key features?

extra X chromosome tall gynaecomastia

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

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

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

msud

Neonate with seizures and stinks of sweaty feet diagnosis?

Isovaleric aciduria smells 'vile'

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

Hartnup

Impetigo - name 2 causative organisms

staph aureus strep pyogenes

vaccines contraindicated in pts with severe egg allergy

influenza yellow fever

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

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

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

azithromycin (bcos doxy is contraindicated) - can test the partner, but partner should be treated regardless of the result

red flags for children w constipation

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

antibody test for glandular fever

postive heterophile antibodies - will also have atypical lymphocytosis

ID/haem/immuno/genetics Flashcards

(63 cards)