ID/haem/immuno/genetics Flashcards
Likelihood of conceiving a child with Downs syndrome >40yo woman?
1:100
Likelihood of conceiving a child with Downs syndrome >45yo woman?
1:50
what is the gene affected in thalassaemia?
globin gene
Chronic myeloid leukaemia
what is the genetic defect most commonly seen? (90%)
BCR ABL gene - Chr 9:22
“philadelphia chromosome”
If you suspect Lyme disease but see no rash, what initial investigation would be ordered?
borrelia burgdorefi antibodies
Lyme disease
- features apart from bullseye rash and flu like sx?
Arthritis
Neuro:
- CN7 palsy, meningitis
Cardiac:
- heart block, myopericarditis
Name 4 live vaccines in UK schedule
BCG
rotavirus
MMR
nasal flu
Bartonella disease aka ?
How does it present?
Cat scratch disease
initially crusty papule –> tender red regional lymphadenopathy 1-3 weeks later
often spontaneously drains
45XO
features?
Turners syndrome
- short
- webbed neck
- wide spaced nipples
- amenorrhoea
minimum period of observation after anaphylaxis
6 hours
if investigation is required, what is the best investigation for suspected allergic rhinitis?
skin prick
most common cause of acute haemolytic transfusion reaction
ABO incompatibility
treatment of CML
Imatinib
Main difference between MM and MGUS
MGUS has no evidence of end organ involvement i.e.
no hypercalcemia/renal failure/anaemia/osteolytic lesions
Causative organism in HFM disease?
Coxsackie
Features of fragile X
(a fragile man needs big balls!)
- large testes
- long face and ears
- intellectual disability
Trisomy 13 aka?
2 key features?
Patau syndrome
- Cardiac abnormalities
- midline defects - failure of brain to separate into 2 hemispheres, cleft lip
- polydactyly
2nd most common trisomy after downs syndrome
- Downs [21]
- Edwards [18]
- Patau [13]
megaloblastic vs non megaloblastic
megaloblastic = prescence of hypersegmented neutrophils
+ve intrinsic factor antibodies
diagnosis?
pernicious anaemia
MCV in sickle cell anaemia
normal!
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.
System used to stage hodgkins lymphoma?
Ann Arbor
Curative treatment for CML
allogenic bone marrow transplant
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
TB
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
