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Buzzwords Flashcards

1
Q

alpha-synuclein cytoplasmic inclusions

A

Lewy Body Dementia

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2
Q

Facioscapulohumeral muscular dystrophy (FSHMD) inheritance

A

Autosomal Dominant

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3
Q

Lesion in: medial thalamus and mammillary bodies of the hypothalamus

A

Wernicke and Korsakoff syndrome

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4
Q

Lesion in: Subthalamic nucleus of the basal ganglia

A

Hemiballism

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5
Q

Lesion in: Striatum (caudate nucleus) of the basal ganglia

A

Huntington’s chorea

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6
Q

Lesion in: Substantia nigra of the basal ganglia

A

Parkinson’s disease

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7
Q

Where lesion for- Kluver-Bucy syndrome

A

Lesion in: Amygdala

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8
Q

Hypersexuality, hyperorality, hyperphagia, visual agnosia

A

Kluver-Bucy syndrome (amygdala lesion)

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9
Q

Fluent speech, poor comprehension, normal repetition

A

Wernicke’s (receptive) aphasia

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10
Q

Non-fluent speech, normal comprehension, normal repetition

A

Broca’s (expressive) aphasia

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11
Q

Fluent speech, normal comprehension, poor repetition

A

Conductive (associative) aphasia

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12
Q

Wernicke’s (receptive) aphasia lesion site

A

Superior temporal gyrus

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13
Q

Broca’s (expressive) aphasia lesion site

A

Inferior frontal gyrus

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14
Q

Conduction (associative) dysphasia

A

Arcuate fasiculus

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15
Q

Ataxic telangiectasia inheritance

A

Autosomal recessive

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16
Q

Friedrich’s ataxia inheritance

A

Autosomal recessive

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17
Q

Anti MuSK associated with

A

Myaesthenia Gravis

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18
Q

Anti-GM1 associated with

A

acute inflammatory demyelinating polyneuropathy (AIDP) variant of Guillain-Barre syndrome

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19
Q

Auer rods

A

AML

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20
Q

Haem malignancy with Sudan black

A

AML (stains myeloblasts)

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21
Q

Haem malignancy with PAS

A

ALL (periodic acid schiff)

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22
Q

Haem malignancy with non-specific esterase

A

AML

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23
Q

Paraneoplastic Ab: LEMS

A

Anti-VGCC

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24
Q

Paraneoplastic Ab: sensory neuropathy, cerebellar syndrome, encephalomyelitis

A

Anti-Hu

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25
Q

Which mailgnancies: Anti-Hu

A

SCLC, Neuroblastoma

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26
Q

Which malignancies: Anti-Yo

A

Ovarian and Breast

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27
Q

Paraneoplastic Ab: cerebellar syndrome

A

Anti-Yo

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28
Q

Paraneoplastic Ab: Stiff person’s syndrom or diffuse hypertonia

A

Anti-GAD

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29
Q

Which malignancies: Anti-GAD (3)

A

Breast, Colorectal, SCLC

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30
Q

Paraneoplastic Ab: ocular opsoclonus-myoclonus

A

Anti-Ri (OPqRS)

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31
Q

Which malignancies: Anti-Ri

A

SCLC + Breast

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32
Q

Anti-GQ1b

A

Miller Fischer syndrome (90%)

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33
Q

Anti-GM1

A

25% of Guillain Barre syndrome

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34
Q

Smear cells

A

CLL (CeLLs)

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35
Q

Translocation 9;22

A

Walking down the street in Philladelphia at 9.22 (CML)

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36
Q

Philladelphia chromosome

A

CML (Philladelphia CrM cheese)

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37
Q

Auer rods

A

AML (in myeloid cells)

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38
Q

Translocation 15;17

A

Acute promyelocytic leukaemia (AML; M3, 3:17pm)

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39
Q

Translocation 8;21

A

AML (good prognosis- get there early (8:21); M2)

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40
Q

Translocation 8;14

A

Burkitt’s lymphoma (8, B; 1,l- 8urkitt’s 1ymphoma) (c-MYC)

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41
Q

Ch 5q-

A

Myelodysplastic syndrome (loss of part of long arm of Ch 5

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42
Q

Translocation 14;18

A

Follicular NHL (Non-Hodgkin’s lymphoma; Fourteen Follicular (BCL-2))

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43
Q

Owl’s eye nucleoli (haem)

A

Reed-Sternberg cells- Hodgkin’s lymphoma

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44
Q

Reed-Sternberg cells

A

Hodgkin’s lymphoma

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45
Q

Chemo: ABVD

A

Hodgkin’s lymphoma (Adriamycin, Bleomycin, Vinblastine, Dacabazine)

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46
Q

Chemo: R-CHOP

A

High-grade NHL (Rituximab, Cyclophosphamide, Adriamycin (hydroxdau..), Vincristine (oncovin), Prednisolone

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47
Q

Chemo: FCR

A

CLL (Fludarabine, Cyclophosphamide, Rituximab)

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48
Q

BCR-ABL translocation

A

t9;22 Philladelphia Ch- CML

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49
Q

Chemo: Imatinib

A

CML- TyrKi inhibitor targets BCR-ABL fusion protein (tyrosine kinase)

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50
Q

Test prolonged in haemophilias

A

APTT

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51
Q

Haemophilia A/B inheritance

A

X-linked (some sporadic)

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52
Q

Factor IX deficiency

A

Haemophilia B (B9 Bomber; Christmas disease)

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53
Q

Factor VIII deficiency

A

Haemophilia A (Ate - Eight)

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54
Q

JAK-2 mutation

A

Polycythaemia Rubra Vera

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55
Q

ADAMST13 deficiency

A

Thrombotic Thrombocytopenic Purpura (TTP)- Protease that cleaves part of vWF (to make it less sticky)

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56
Q

Karyotype 47, XXY

A

Klinefelter’s syndrome

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57
Q

Starry sky appearance

A

Burkitt’s lymphoma

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58
Q

Virus associated with Burkitt’s lymphoma (endemic)

A

EBV (B cells, EBV, Burkitt’s)- mandibular/maxilla

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59
Q

Virus asscoiated with sporadic (immunodeficient) Burkitt’s lymphoma

A

HIV- usually abdominal (ileo-caecal)

EBV also associated

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60
Q

Blood film: Target cells, Howell Jolley bodies, Pappenheimer bodies, siderotic granules, acanthocytes

A

Post-splenectomy

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61
Q

Blood film: Target cells, pencil poikilocytes

A

Fe deficiency anaemia

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62
Q

Blood film: Tear drop poikilocytes

A

Myelofibrosis

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63
Q

Blood film: Schistocytes

A

Intravascular haemolysis

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64
Q

Blood film: Hypersegmented neutrophils

A

Megaloblastic anaemia

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65
Q

CA 125

A

Ovarian and Endometrial Ca

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66
Q

CA 19-9

A

Pancreatic Ca

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67
Q

CA 15-3

A

Breast Ca

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68
Q

PSA tumour marker

A

Prostate Ca

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69
Q

CEA tumour marker

A

Colorectal Ca

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70
Q

Bombesin tumour marker

A

SCLC, also gastric Ca and neuroblastoma

71
Q

AFP tumour marker

72
Q

S-100 tumour marker

A

Melanoma, schwannoma

73
Q

Carcinogens: alfatoxin

A

HCC (make by Aspergillus- feed production)

74
Q

Carcinogens: aniline dye

A

TCC (dye industry)

75
Q

Carcinogens: benzene

76
Q

Carcinogens: vinyl chloride

A

Hepatic angioblastoma (refrigerator manufacture before 1974)

77
Q

Carcinogens: nitrosamines

A

Oesophageal and Gastric Ca (rubber industry)

78
Q

Carcinogens: Asbestos

A

Mesothelioma and Bronchial Ca

79
Q

Gene mutations: WASP

A

Wiskott-Aldrich syndrome- recurrent bacterial infections, eczema, thrombocytopenia, low IgM

80
Q

Gene mutations: HFE1

A

Haemochromatosis

81
Q

Gene mutations: RET

A

MEN 2a/b and Hirschprung’s disease

82
Q

Gene mutations: CFTR

A

Cystic Fibrosis

83
Q

Translocation 11;14

A

Mantle cell lymphoma (11 looks like an M)

84
Q

Blood film: Heinz bodies

A

G6PD deficiency

85
Q

Inheritance of G6PD deficiency

86
Q

Inheritance of hereditary spherocytosis

A

Autosomal Dominant

87
Q

Diagnostic test: Flow cytometry to detect low levels of CD59 + CD55

A

Paroxysmal Nocturnal Haemaglobinuria (PNH)- has replaced HAM’s test

88
Q

Diagnostic test: Osmotic fragility testing

A

Hereditary spherocytosis

89
Q

Karyotype 45, XO

A

Turner’s syndrome (could also be deletion of short arm of X Ch)

90
Q

Deletion on Paternal Ch 15 (15q11-13)

A

Prader-Willi (Ps- Prader, Paternal)- aletrnatively Maternal uniparental disomy of Ch15 (still missing parental 15)

91
Q

Deletion on Maternal Ch15

A

AngelMAn syndrome- (MAternal)

92
Q

Achondroplasia inheritance

A 
Sporadic in 70%- once devleoped- AD inheritance
Autosomal Dominant (heterozygous are affected, homozygous die in first few months)
93
Q

Oncogene: ABL

94
Q

Oncogene: c-MYC

A

Burkitt’s lymphoma

95
Q

Oncogene: n-MYC

A

Neuroblastoma

96
Q

Oncogene: BCL-2

A

Follicular lymphoma

97
Q

Oncogene: RET

A

MEN Type II (+III) and Hirschprung’s

98
Q

Oncogene: RAS

A

Many Cas including PancRAS

99
Q

Oncogene: erb-B2

A

Breast/Ovarian

100
Q

Oncogene: HER2/neu

A

Breast/Ovarian

101
Q

HLA-A3

A

HAemAchromAtosis (3As)

102
Q

HLA-B5

A

Bechet’s disease (B)

103
Q

HLA-B27

A

Seronegative sponylarthropathies: Ank Spond, Reiter’s syndrome, Anterior uveitis, Psoriatic arthropathy, Enteropathic arthritis

104
Q

HLADQ2/DQ8

A

Qoeliac Disease

105
Q

HLA-DR2

A

Goodpasture’s, Narcolepsy (DR 2 Good for Narcotics)

106
Q

HLA-DR3

A

Dermatitis herpetiformis, Sjogren’s syndrome, Primary biliary Cirrhosis (also T1DM but more DR4)

107
Q

HLA-DR4

A

Rheumatoid arthritis; T1DM (4 letters)

108
Q

Marfan’s inheritance

A

Autosomal Dominant

109
Q

Mutation in FBN1 on Ch 15

A

Marfan’s disease (Fibrillin-1)

110
Q

Anti-Sm (smith)

111
Q

Anti-Ro

A

(Anti SSA)- Sjogrens

112
Q

Anti-La

A

(Anti-SSB)- Sjogrens

113
Q

Anti-nRNP(U1-RNP)

114
Q

Anti-topoisomerase I

A

(Anti-Scl 70)- Diffuse scleroderma

115
Q

Anti-Jo1

A

Polymyositis / Dermatomyositis

116
Q

Anti-Mi-2

A

Dermatomyositis

117
Q

Anti-dsDNA

118
Q

Anti-histone

A

Drug-induced lupus

119
Q

AMA (Anti-mitochondrial)

A

Primary Biliary Cirrhosis

120
Q

Anti-centromere

A

CREST (CEnTRomere) (Limited scleroderma)

121
Q

Rituximab target

A

anti-CD20 (B lymphocytes; RA and NHL)

122
Q

Alemtuzumab target

A

anti-CD52 (T lymphocytes; Campath; CLL)

123
Q

Infliximab target

A

anti-TNF (RA and Crohn’s)

124
Q

Cetuximab target

A

Anti-EGFR (metastatic colorectal + head/neck Ca)

125
Q

Trastuzumab target

A

Anti-HER2/neu (metastatic breast Ca)

126
Q

Abciximab target

A

GpIIb/IIIa receptor antagonist

127
Q

OKT3 target (mAb)

A

Anti-CD3 (Tcells; prevent organ transplant rejection)

128
Q

Ethylene glycol (anti-freeze) Mx

A

Fomepizole (was ethanol)

129
Q

B-blocker OD Mx

A

Atropine (if bradycardic); IV glucagon can reverse

130
Q

Salicylate (aspirin) OD Mx

A

Haemodialysis (also IV bicarb for urinary alkalinisation)

131
Q

Benzodiazepine OD Mx

A

Flumezanil

132
Q

Digoxin antidote

A

Digibind (Antibody)

133
Q

Methanol poisoning Mx

A

Fomepizole or ethanol; Haemodialysis

134
Q

Heparin antidote

A

protamine sulphate

135
Q

Warfarin antidotes

A

Vitamin K, prothrombin complex

136
Q

Opiate antidote

137
Q

Paracetamol OD Mx

A

NAC, activated charcoal (<1hr), liver transplant

138
Q

TCA OD Mx

A

IV sodium bicarb (prevent/treat seizures and arrythmias)

139
Q

Mild Lithium toxicity Mx

140
Q

Severe Li toxicity Mx

A

Haemodialysis; sometimes IV sodium bicarb

141
Q

Organophosphates (insecticide) poisoning Mx

142
Q

Iron toxicity Mx

A

Desferrioxamine

143
Q

Lead poisoning Mx

A

Dimercaprol; Calcium edetate

144
Q

Carbon monoxide poisoning Mx

A

100% O2; Hyperbaric O2

145
Q

Cyanide poisoning Mx

A

Hydroxocobalamin (B12); also a combo of (amyl nitrite, sodium nitrite, sodium thiosulphate)

146
Q

GAA repeat

A

Friedrich’s Ataxia- Gone All Ataxic

147
Q

CTG repeat

A

Myotonic dystrophy

148
Q

CAG repeat

A

Huntington’s - Come with A Gun

149
Q

CGG repeat

A

Fragile X- Fragile EGGs (CGG)

150
Q

Mutation in CADASIL

A

NOTCH3 mutation (small vessel cerebral disease)

151
Q

PMP-22 gene mutation

A

Charcot-Marie-Tooth (HSMN I)- Autosomal Dominant

152
Q

Primary Biliary Cirrhosis assoc. with high titres of which Ig…

153
Q

Alcoholic liver disease assoc. with high titres of which Ig…

A

IgA (IgAlcohol)

154
Q

Autoimmune hepatitis assoc. with high titres of which Ig…

A

IgG (IgGirls- young women get it)

155
Q

Ca associated with acanthosis nigricans

A

Gastric Ca

156
Q

Ca associated with acquired itchthyosis

157
Q

Ca associated with hypertrichosis lanuginosis

A

GI and lung Ca

158
Q

Ca associated with dermatomyositis

A

Ovarian and lung Ca

159
Q

Ca associated with erythema gyratum repens

A

Lung and breast Ca

160
Q

Ca associated with erythroderma

161
Q

Ca associated with migratory thrombophlebitis

A

Pancreatic Ca

162
Q

Ca associated with necrolytic migratory erytema

A

Glucagonoma

163
Q

Ca associated with Pyoderma gangrenosum

A

Myeloproliferative disorders

164
Q

Ca associated with Tylosis (palmoplantar keratomderma)

A

Oesophageal Ca

165
Q

G6PD inheritance

A

X-linked recessive

166
Q

Hurler’s syndrome inheritance

A

X-linked recessive

167
Q

Hyperlipidaemia type II inheritance

A

Autosomal Dominant

168
Q

Hypokalaemic periodic paralysis inheritance

A

Autosomal dominant

169
Q

Familial mediterranean fever inheritance

A

Autosomal recessive

170
Q

NNT =

A

NNT = 1/ARR (ARR= EER-CER)

171
Q

PPV =

A

PPV = TP/TP+FP

172
Q

NPV =

A

NPV = TN/TN+FN

173
Q

Specificity =

A

Specificity = TN / TN + FP

174
Q

Sensitivity =

A

Sensitivity = TP / TP + FN

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