Buzzwords Flashcards
(174 cards)
1
Q
alpha-synuclein cytoplasmic inclusions
A
Lewy Body Dementia
2
Q
Facioscapulohumeral muscular dystrophy (FSHMD) inheritance
A
Autosomal Dominant
3
Q
Lesion in: medial thalamus and mammillary bodies of the hypothalamus
A
Wernicke and Korsakoff syndrome
4
Q
Lesion in: Subthalamic nucleus of the basal ganglia
A
Hemiballism
5
Q
Lesion in: Striatum (caudate nucleus) of the basal ganglia
A
Huntington’s chorea
6
Q
Lesion in: Substantia nigra of the basal ganglia
A
Parkinson’s disease
7
Q
Where lesion for- Kluver-Bucy syndrome
A
Lesion in: Amygdala
8
Q
Hypersexuality, hyperorality, hyperphagia, visual agnosia
A
Kluver-Bucy syndrome (amygdala lesion)
9
Q
Fluent speech, poor comprehension, normal repetition
A
Wernicke’s (receptive) aphasia
10
Q
Non-fluent speech, normal comprehension, normal repetition
A
Broca’s (expressive) aphasia
11
Q
Fluent speech, normal comprehension, poor repetition
A
Conductive (associative) aphasia
12
Q
Wernicke’s (receptive) aphasia lesion site
A
Superior temporal gyrus
13
Q
Broca’s (expressive) aphasia lesion site
A
Inferior frontal gyrus
14
Q
Conduction (associative) dysphasia
A
Arcuate fasiculus
15
Q
Ataxic telangiectasia inheritance
A
Autosomal recessive
16
Q
Friedrich’s ataxia inheritance
A
Autosomal recessive
17
Q
Anti MuSK associated with
A
Myaesthenia Gravis
18
Q
Anti-GM1 associated with
A
acute inflammatory demyelinating polyneuropathy (AIDP) variant of Guillain-Barre syndrome
19
Q
Auer rods
A
AML
20
Q
Haem malignancy with Sudan black
A
AML (stains myeloblasts)
21
Q
Haem malignancy with PAS
A
ALL (periodic acid schiff)
22
Q
Haem malignancy with non-specific esterase
A
AML
23
Q
Paraneoplastic Ab: LEMS
A
Anti-VGCC
24
Q
Paraneoplastic Ab: sensory neuropathy, cerebellar syndrome, encephalomyelitis
A
Anti-Hu
25
Which mailgnancies: Anti-Hu
SCLC, Neuroblastoma
26
Which malignancies: Anti-Yo
Ovarian and Breast
27
Paraneoplastic Ab: cerebellar syndrome
Anti-Yo
28
Paraneoplastic Ab: Stiff person's syndrom or diffuse hypertonia
Anti-GAD
29
Which malignancies: Anti-GAD (3)
Breast, Colorectal, SCLC
30
Paraneoplastic Ab: ocular opsoclonus-myoclonus
Anti-Ri (OPqRS)
31
Which malignancies: Anti-Ri
SCLC + Breast
32
Anti-GQ1b
Miller Fischer syndrome (90%)
33
Anti-GM1
25% of Guillain Barre syndrome
34
Smear cells
CLL (CeLLs)
35
Translocation 9;22
Walking down the street in Philladelphia at 9.22 (CML)
36
Philladelphia chromosome
CML (Philladelphia CrM cheese)
37
Auer rods
AML (in myeloid cells)
38
Translocation 15;17
Acute promyelocytic leukaemia (AML; M3, 3:17pm)
39
Translocation 8;21
AML (good prognosis- get there early (8:21); M2)
40
Translocation 8;14
Burkitt's lymphoma (8, B; 1,l- 8urkitt's 1ymphoma) (c-MYC)
41
Ch 5q-
Myelodysplastic syndrome (loss of part of long arm of Ch 5
42
Translocation 14;18
Follicular NHL (Non-Hodgkin's lymphoma; Fourteen Follicular (BCL-2))
43
Owl's eye nucleoli (haem)
Reed-Sternberg cells- Hodgkin's lymphoma
44
Reed-Sternberg cells
Hodgkin's lymphoma
45
Chemo: ABVD
Hodgkin's lymphoma (Adriamycin, Bleomycin, Vinblastine, Dacabazine)
46
Chemo: R-CHOP
High-grade NHL (Rituximab, Cyclophosphamide, Adriamycin (hydroxdau..), Vincristine (oncovin), Prednisolone
47
Chemo: FCR
CLL (Fludarabine, Cyclophosphamide, Rituximab)
48
BCR-ABL translocation
t9;22 Philladelphia Ch- CML
49
Chemo: Imatinib
CML- TyrKi inhibitor targets BCR-ABL fusion protein (tyrosine kinase)
50
Test prolonged in haemophilias
APTT
51
Haemophilia A/B inheritance
X-linked (some sporadic)
52
Factor IX deficiency
Haemophilia B (B9 Bomber; Christmas disease)
53
Factor VIII deficiency
Haemophilia A (Ate - Eight)
54
JAK-2 mutation
Polycythaemia Rubra Vera
55
ADAMST13 deficiency
Thrombotic Thrombocytopenic Purpura (TTP)- Protease that cleaves part of vWF (to make it less sticky)
56
Karyotype 47, XXY
Klinefelter's syndrome
57
Starry sky appearance
Burkitt's lymphoma
58
Virus associated with Burkitt's lymphoma (endemic)
EBV (B cells, EBV, Burkitt's)- mandibular/maxilla
59
Virus asscoiated with sporadic (immunodeficient) Burkitt's lymphoma
HIV- usually abdominal (ileo-caecal)
| EBV also associated
60
Blood film: Target cells, Howell Jolley bodies, Pappenheimer bodies, siderotic granules, acanthocytes
Post-splenectomy
61
Blood film: Target cells, pencil poikilocytes
Fe deficiency anaemia
62
Blood film: Tear drop poikilocytes
Myelofibrosis
63
Blood film: Schistocytes
Intravascular haemolysis
64
Blood film: Hypersegmented neutrophils
Megaloblastic anaemia
65
CA 125
Ovarian and Endometrial Ca
66
CA 19-9
Pancreatic Ca
67
CA 15-3
Breast Ca
68
PSA tumour marker
Prostate Ca
69
CEA tumour marker
Colorectal Ca
70
Bombesin tumour marker
SCLC, also gastric Ca and neuroblastoma
71
AFP tumour marker
HCC
72
S-100 tumour marker
Melanoma, schwannoma
73
Carcinogens: alfatoxin
HCC (make by Aspergillus- feed production)
74
Carcinogens: aniline dye
TCC (dye industry)
75
Carcinogens: benzene
Leukaemia
76
Carcinogens: vinyl chloride
Hepatic angioblastoma (refrigerator manufacture before 1974)
77
Carcinogens: nitrosamines
Oesophageal and Gastric Ca (rubber industry)
78
Carcinogens: Asbestos
Mesothelioma and Bronchial Ca
79
Gene mutations: WASP
Wiskott-Aldrich syndrome- recurrent bacterial infections, eczema, thrombocytopenia, low IgM
80
Gene mutations: HFE1
Haemochromatosis
81
Gene mutations: RET
MEN 2a/b and Hirschprung's disease
82
Gene mutations: CFTR
Cystic Fibrosis
83
Translocation 11;14
Mantle cell lymphoma (11 looks like an M)
84
Blood film: Heinz bodies
G6PD deficiency
85
Inheritance of G6PD deficiency
X-linked
86
Inheritance of hereditary spherocytosis
Autosomal Dominant
87
Diagnostic test: Flow cytometry to detect low levels of CD59 + CD55
Paroxysmal Nocturnal Haemaglobinuria (PNH)- has replaced HAM's test
88
Diagnostic test: Osmotic fragility testing
Hereditary spherocytosis
89
Karyotype 45, XO
Turner's syndrome (could also be deletion of short arm of X Ch)
90
Deletion on Paternal Ch 15 (15q11-13)
Prader-Willi (Ps- Prader, Paternal)- aletrnatively Maternal uniparental disomy of Ch15 (still missing parental 15)
91
Deletion on Maternal Ch15
AngelMAn syndrome- (MAternal)
92
Achondroplasia inheritance
```
Sporadic in 70%- once devleoped- AD inheritance
Autosomal Dominant (heterozygous are affected, homozygous die in first few months)
```
93
Oncogene: ABL
CML
94
Oncogene: c-MYC
Burkitt's lymphoma
95
Oncogene: n-MYC
Neuroblastoma
96
Oncogene: BCL-2
Follicular lymphoma
97
Oncogene: RET
MEN Type II (+III) and Hirschprung's
98
Oncogene: RAS
Many Cas including PancRAS
99
Oncogene: erb-B2
Breast/Ovarian
100
Oncogene: HER2/neu
Breast/Ovarian
101
HLA-A3
HAemAchromAtosis (3As)
102
HLA-B5
Bechet's disease (B)
103
HLA-B27
Seronegative sponylarthropathies: Ank Spond, Reiter's syndrome, Anterior uveitis, Psoriatic arthropathy, Enteropathic arthritis
104
HLADQ2/DQ8
Qoeliac Disease
105
HLA-DR2
Goodpasture's, Narcolepsy (DR 2 Good for Narcotics)
106
HLA-DR3
Dermatitis herpetiformis, Sjogren's syndrome, Primary biliary Cirrhosis (also T1DM but more DR4)
107
HLA-DR4
Rheumatoid arthritis; T1DM (4 letters)
108
Marfan's inheritance
Autosomal Dominant
109
Mutation in FBN1 on Ch 15
Marfan's disease (Fibrillin-1)
110
Anti-Sm (smith)
SLE
111
Anti-Ro
(Anti SSA)- Sjogrens
112
Anti-La
(Anti-SSB)- Sjogrens
113
Anti-nRNP(U1-RNP)
MCTD
114
Anti-topoisomerase I
(Anti-Scl 70)- Diffuse scleroderma
115
Anti-Jo1
Polymyositis / Dermatomyositis
116
Anti-Mi-2
Dermatomyositis
117
Anti-dsDNA
SLE
118
Anti-histone
Drug-induced lupus
119
AMA (Anti-mitochondrial)
Primary Biliary Cirrhosis
120
Anti-centromere
CREST (CEnTRomere) (Limited scleroderma)
121
Rituximab target
anti-CD20 (B lymphocytes; RA and NHL)
122
Alemtuzumab target
anti-CD52 (T lymphocytes; Campath; CLL)
123
Infliximab target
anti-TNF (RA and Crohn's)
124
Cetuximab target
Anti-EGFR (metastatic colorectal + head/neck Ca)
125
Trastuzumab target
Anti-HER2/neu (metastatic breast Ca)
126
Abciximab target
GpIIb/IIIa receptor antagonist
127
OKT3 target (mAb)
Anti-CD3 (Tcells; prevent organ transplant rejection)
128
Ethylene glycol (anti-freeze) Mx
Fomepizole (was ethanol)
129
B-blocker OD Mx
Atropine (if bradycardic); IV glucagon can reverse
130
Salicylate (aspirin) OD Mx
Haemodialysis (also IV bicarb for urinary alkalinisation)
131
Benzodiazepine OD Mx
Flumezanil
132
Digoxin antidote
Digibind (Antibody)
133
Methanol poisoning Mx
Fomepizole or ethanol; Haemodialysis
134
Heparin antidote
protamine sulphate
135
Warfarin antidotes
Vitamin K, prothrombin complex
136
Opiate antidote
Naloxone
137
Paracetamol OD Mx
NAC, activated charcoal (<1hr), liver transplant
138
TCA OD Mx
IV sodium bicarb (prevent/treat seizures and arrythmias)
139
Mild Lithium toxicity Mx
IV fluids
140
Severe Li toxicity Mx
Haemodialysis; sometimes IV sodium bicarb
141
Organophosphates (insecticide) poisoning Mx
Atropine
142
Iron toxicity Mx
Desferrioxamine
143
Lead poisoning Mx
Dimercaprol; Calcium edetate
144
Carbon monoxide poisoning Mx
100% O2; Hyperbaric O2
145
Cyanide poisoning Mx
Hydroxocobalamin (B12); also a combo of (amyl nitrite, sodium nitrite, sodium thiosulphate)
146
GAA repeat
Friedrich's Ataxia- Gone All Ataxic
147
CTG repeat
Myotonic dystrophy
148
CAG repeat
Huntington's - Come with A Gun
149
CGG repeat
Fragile X- Fragile EGGs (CGG)
150
Mutation in CADASIL
NOTCH3 mutation (small vessel cerebral disease)
151
PMP-22 gene mutation
Charcot-Marie-Tooth (HSMN I)- Autosomal Dominant
152
Primary Biliary Cirrhosis assoc. with high titres of which Ig...
IgM
153
Alcoholic liver disease assoc. with high titres of which Ig...
IgA (IgAlcohol)
154
Autoimmune hepatitis assoc. with high titres of which Ig...
IgG (IgGirls- young women get it)
155
Ca associated with acanthosis nigricans
Gastric Ca
156
Ca associated with acquired itchthyosis
Lymphoma
157
Ca associated with hypertrichosis lanuginosis
GI and lung Ca
158
Ca associated with dermatomyositis
Ovarian and lung Ca
159
Ca associated with erythema gyratum repens
Lung and breast Ca
160
Ca associated with erythroderma
Lymphoma
161
Ca associated with migratory thrombophlebitis
Pancreatic Ca
162
Ca associated with necrolytic migratory erytema
Glucagonoma
163
Ca associated with Pyoderma gangrenosum
Myeloproliferative disorders
164
Ca associated with Tylosis (palmoplantar keratomderma)
Oesophageal Ca
165
G6PD inheritance
X-linked recessive
166
Hurler's syndrome inheritance
X-linked recessive
167
Hyperlipidaemia type II inheritance
Autosomal Dominant
168
Hypokalaemic periodic paralysis inheritance
Autosomal dominant
169
Familial mediterranean fever inheritance
Autosomal recessive
170
NNT =
NNT = 1/ARR (ARR= EER-CER)
171
PPV =
PPV = TP/TP+FP
172
NPV =
NPV = TN/TN+FN
173
Specificity =
Specificity = TN / TN + FP
174
Sensitivity =
Sensitivity = TP / TP + FN
