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Public Health > Genes + Criteria > Flashcards

Genes + Criteria Flashcards

1
Q

X-linked Recessive (HGDKA)

A
  • Haemophilia A,B
  • G6PD deficiency
  • Duchenne muscular dystrophy
  • Kallman’s
  • Androgen Insensitivity
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2
Q


X-linked Dominant:

A
  • Alports
  • Hereditary Hypophosphataemia
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3
Q

Autosomal Recessive (C2 F2 SHT)

A
  • Cystic fibrosis
  • Congenital adrenal hyperplasia
  • Friedreich’s ataxia
  • Fanconi anaemia
  • Sickle cell anaemia
  • Haemochromatosis
  • Thalassaemias
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4
Q

Autosomal Dominant: 2xHEMN VOT

A
  • Hereditary spherocytosis
  • Huntington’s disease
  • Ehlers-Danlos syndrome
  • EYE: Retinoblastoma
  • Marfan’s syndromes
  • Myotonic dystrophy
  • Neurofibromatosis
  • Noonan syndrome
  • Von Willebrand’s disease
  • Osteogenesis imperfecta
  • Tuberous sclerosis
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5
Q

breast cancer

A

BRCA1/2 (c17/13), TP53, PTEN

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6
Q

cervical cancer:

A

HPV t16/18 (E6/E7 proteins)

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7
Q

genital warts:

A

HPV t6/11

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8
Q

ovarian cancer:

A

BRCA1/2

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9
Q

cystic fibrosis:

A

AR, CFTR on chromosome 7, delta F508

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10
Q

downs:

A

trisomy 21 (meiotic dysfunction, translocation, mosaicism)

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11
Q

klinefelter:

A

47XXY in males

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12
Q

turner:

A

45XO in females

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13
Q

noonan

A

AD, c12

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14
Q

marfan

A

AD, fibrillin

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15
Q

fragile X:

A

X linked D/R: FMR1

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16
Q

prader willi:

A

imprinting, proximal c15

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17
Q

angelman:

A

UBE3A gene, deletion c15

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18
Q

william:

A

deletion c7

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19
Q

patau:

A

trisomy 13

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20
Q

edward:

A

trisomy 18

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21
Q

duchenne muscular dystrophy

A

X linked R, xp21 dystrophin gene

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22
Q

friedreich’s ataxia:

A

AR, GAA repeat, X25 gene on c9 (frataxin)

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23
Q

osteogenesis imperfecta:

A

AD, c7/17, pro alpha 1 or 2 collagen polypeptides

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24
Q

coeliac:

A

HLADQ2 HLADQ8

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25
Q

colon cancer:

A

FAP APC, LYNCH HNPCC

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26
Q

HIV:

A

CCR5/CCR1 mutation

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27
Q

kallman:

A

X linked R

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28
Q

precocious puberty:

A

GPR54 gene

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29
Q

CAH:

A

AR 21 alpha hydroxylase deficiency

30
Q

androgen insensitivity:

A

X linked R 46XY have female phenotype

31
Q

thalassemia:

A

AR, 16(A), 11(B)

32
Q

SCD:

A

AR (11)

33
Q

HS:

A

AD

34
Q

G6PD:

A

X link, Xq28, factor VIII

35
Q

haemophilia:

A

X link R, A (factor VIII), B (factor IX)

36
Q

VWD:

A

AD

37
Q

CML:

A

philadelphia t (9,22)

38
Q

ewings:

A

EWS-FLI-1, t (11,22)

39
Q

retinoblastoma:

A

AD, deactivated RB1 on c13

40
Q

neurofibromatosis:

A

t1 (c17-neurofibromin), t2 (c22-merlin)

41
Q

ALS/FTD

A

c9orf72 expansion on c21

42
Q

huntington:

A

HTT c4 huntingtin

(other trinucleotide: fragile x, spino-cerebellar ataxia, myotonic dystrophy, friedrichs ataxia)

43
Q

narcolepsy:

A

HLA DR2

44
Q

hemiplegic migraine:

A

AD

45
Q

AD:

A

APOEe4 gene, PSEN1/2 (extra APP)

genetic form: Autosomal Dominant, 15% increased change in children
- chromosome 21 (APP mutation)
- chromosome 14 (presenilin 1)
- chromosome 1 (presenilin 2)

46
Q

autism:

A

PTEN, MeCP, CNV variants

47
Q

substance misuse:

A

CYP2D6 gene

48
Q

Criteria for syphilis

A

rapid plasma region and venereal disease research lab

49
Q

Criteria for BV

A

Amsels

50
Q

Endometrial cancer staging

A

FIGO

51
Q

Criteria for PCOS

A

Rotterdam

52
Q

Criteria for pelvic organ prolapse:

A

Pelvic organ prolapse quantification (POP-Q)

53
Q

Screening test for CF?

A

Guthrie’s (heel prick)

Sickle cell disease (SCD)
Cystic fibrosis (CF)
Hypothyroidism (CHT)
Phenylketonuria (PKU)
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
Maple syrup urine disease (MSUD)
Isovaleric acidaemia (IVA)
Glutaric aciduria type 1 (GA1)
Homocystinuria (HCU)

54
Q

tonsillectomy:

A

Center Criteria
1 point if: Fever over 38°C, Absence of cough, Tonsillar exudate, Tender anterior cervical lymphadenopathy or lymphadenitis

FeverPAIN Criteria
Fever, Purulent/Pus, Attended in 3 days, Inflammed, No cough/coryza

55
Q

Melanoma

A

ABCDE (assymetry, border, colour, diameter, evolving)

56
Q

Down’s Syndrome: Screening

A

combined (ultrasound, bHCG, PAPP-A) [11w]
triple (bHCG, AFP, estriol) [14-20w]
quadruple (inhibin-A) [14-20w]

high INHIBIN + BHCG

NIPT (99% accurate)

CVS (14w)
Amnio (15w)

57
Q

ADHD:

A

adult: ADHD self report scale (ASRS)

others: SDQ, Conner’s rating scale, DSM5

58
Q

Autism

A

Diagnostic Interview for Social Communication Disorders (DISCO)

Autism Diagnostic Observation Schedule (ADOS)

DSM5

59
Q

OCD:

A

YBOCS scale

60
Q

depression

A

PHQ-9

> 16= severe

61
Q

dementia:

A

Six Item Cognitive Impairment Test (6CIT)

10 Point Cognitive Screener (10-CS)

Montreal Cognitive Assessment (MoCA)

Addenbrooke’s Cognitive Exam (ACE-III) <83=abnormal

Mini Mental State Exam (MMSE) <24=mild, <12=severe

Geriatric Depression Scale -15 (GDS)

62
Q

frailty

A

rockwood + prisma-7

63
Q

falls

A

turn-180 test
timed up and go test

64
Q

pressure sores

A

waterlow

65
Q

anxiety

A

GAD-7d

66
Q

Nutrition

A

MUST tool

67
Q

Medication Review

A

START, STOPP

68
Q

Activities daily living/QOL

A

Barthel Index

69
Q

BPPV (benign paroxysmal positional vertigo)

A

Diagnosis: Dix-Hallpike manoevre
Treatment: Epley manoeuvre, Brandt-Daroff exercises

70
Q

Epilepsy Genetics

A
  • Familial epilepsies – e.g. benign familial neonatal convulsions (KCNQ2, KCNQ3)
  • Specific genetic mechanisms – e.g. SCN1A mutation in Dravet, GEFS+

Genetic conditions complicated by epilepsy * Rettsyndrome(MECP2,CDLK5)
* Angelman syndrome

71
Q

Wilsons disease

A

ATB7B

Public Health (5 decks)

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