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Last Leg > Gen path > Flashcards

Gen path Flashcards

1
Q

4 ORs given by

A

celsius

functio lesia - virchow

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2
Q

vasodil
inc permiability
emigrationof wbs from circ DIAPEDESIS

A

components of inflammatn

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3
Q

1st change of inflamm

A

vasoconstrict fb vasodiln

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4
Q

dipedisis mediated by

A

cd 31

pecam

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5
Q

mech of inc permeability

A
  1. mc immed transient endothel contractn by histamine
    mc vessel - post cap venule
  2. immed prolonged bac/viral injury or burns
    3, delyed prolonged sun burns or rad injury
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6
Q 
margination 
rolling 
adhesion
diapedesis ---> chemokines
recog of microbes 
phagocytosis 
killing
A

stages of inflammn

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7
Q

rolling r/s?

attch to selectins

A

SIALYL LEWIS X gp

converts low affinity integrins to high affinity

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8
Q

adhesion?

integrins

A

integrins to integrin ligands

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9
Q

hall mark of inflamm

A

E selectin

others P and L

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10
Q

innate immunity #

A 
LAD 1 
LAD 2 
CHEDIAK HIGASHI 
CGD 
MPO def
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11
Q 
defect in adhesion 
AR
defect in beta 2 integrin 
CD11a CD 18a 
inc risk of bac infections 
delayed sep of UMB CORD STUMP
A

LAD 1

leucocyte adhesion defect 1

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12
Q 
defect in rolling  
AR 
defect in sialyl lewis x  ---> fucose cont ligand 
FUCOSYL TRANSFERASE ENZ 
inc risk of bac infections 
MR + 
Bombay phenotype ABO = Ch 9
A

LAD 2

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13
Q

H substance

A 
A 
B 
O 
Bombay - H substance is absent 
Ab against A B & H
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14
Q

Bombay donation of blood

A

Bombay can donate to all but recieve only from bombay

MN, Kell , duffy Rh not deficient :)

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15
Q 
defect in phagolysosome fusion 
LYST 
CHS Ch 1 
AR 
GIANT GRANULES in neutrophils 
mc NEUTROPENIA 
ass with albinism
A

Chediak higashi

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16
Q

dfect in NADPH oxidase pathway
XR
Gp 91,67,47,22 defect
proteinsof integral memb

A 
CGD 
Tests- 
1. mc NBT nitroblue tetrazolium ---> formazam free radicals 
\+ve in healthy
2. DHR ---> rhodamine 
free radicals 
\+ve in healthy
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17
Q

does not inc risk of bac inf
REDUNDANCY OR USELESS ness of bactericidal action of leucocytes
INC CANDIDA INFECTIONS tho

A

MPO def

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18
Q

unidirectional

mediated by actin polymerisn

A

chemotxis

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19
Q

endogenous chemotactic

A

C5a
IL 1,8
LTB4 most potent
TNF alpha sepsis

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20
Q

most potent activation of eosinophils

A

Il 5

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21
Q

recogn of host cell terminal sialic acid

A

MLB r/s

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22
Q

opsonins

A 
C3b 
mannose 
Fc of IgG
fibrinogen 
CRP
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23
Q

mediated by CLARITHRIN COATED pits

A

pinocytosis

NOT BY ACTIN POLYMERISN (phago)

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24
Q

Killing types

A

NADPH oxidase
lysosomal enzymes
NOS pathway

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25
complex of numerous proteins healthy - inactive inflammn - active
NADPH oxidase pathway | O2 --> nadph oxidase ---> O 2- ----> SOD ---> H2O2 ---> MPO/Cl2 ----> HOCl
26
lysosomal enz
primary - azurophilic MPO, proteinase 3 sec/specific - Alkaline phosphatase tertiary - gelatiinase
27
NOS types
endothel - vessel neuronal - NT inducible - main in inflammn
28
chemokines
CXC alpha CC beta C gamma CX3C
29
CXC | 1 aa btw 2 ccr
``` NEUTROPHILS CHEMOTACTIC IL 1 8 TNF alpha ```
30
CC | 0 aa
ALL WBC except neutrophils - eotaxin - monocyte chemoattractant 1 MCP1 - T cells RANTES
31
C
LYMPHOCYTES | lymphotactin
32
Cx3C
MONOCYTES | fractaniline
33
acute cytokines
IL 1 8 TNF alpha Il 17
34
chronic cytokines
macrophage activtn TYPE 4 IL 12 17 INF gamma
35
arach acid derivatives
AA = 5,8,11,14
36
COX
PGs D,I,E - vasodil and dec plt aggregtn TXA 2 vasoconstrict and inc aggrtn
37
LOX
LTB4 most potent chemotactic LT C,D,E - asthma lipoxins ANTIINFLAMM
38
ANTI INFLAMM cytokines
IL 10 TGF beta lipoxins
39
both pro and anti inflamm
IL 6
40
Epo oxygenase pathway
20 HETE renal HTN | EET anti HTN
41
icosanoid pathway
non enz free radical based peroxidatn HTN
42
MACROPHAGE actvn - classical - alternative
- classical PRO INFLAMM IL 12, INF gamma | - alternative ANTI INFLAMM IL10, TNF gamma
43
xanthogranulomatous giant cells
TOUTON giant cells
44
quiescent cells
smooth ms cells of kidney, liver and pancreas endothelial cells
45
wound strength - after suturing - suture removal
- after suturing 70% - suture removal rapidly gained in 3-4 wks to 80% max by 3m 88 %
46
bone cornea skin endomyseum of myofibrils
type 1 collagen - mc - mc component of org bone - high tensile
47
cartilage | vitreous
type 2
48
granulation tissue
type 3 collagen
49
scarring after wound healing
type 1 collagen
50
BM | eye LENS
type 4
51
placenta
type 5
52
beneath st sq epi | resp for DEJ
type 7
53
FACIT collagen | resp maintaining col-col interaction
type 9
54
mc stain
h&e
55
renal stain
pas sbb mt
56
oncohemat
``` mpo sbb pas nse trap ```
57
supravital or retic stain
mast cells | toludiene blue
58
calcium - mc - ms
- mc VON KOSSA | - ms alizarin red s
59
Fat - fresh (adeq of margins) - frozen
- fresh OIL RED O < 15min | - frozen SBB <3d
60
Cu stains
Ocrein | mod Rhodamine
61
Shikata ocrein
HbSAg
62
Amyloid
congo red SALMON/BIRD red PAS thioflamin T yellow
63
Elastin
verhoff von giessen
64
Fibrin
martins scarlet blue
65
grocotti methanamine silver
fungus
66
alcian blue - ph 2,5 - ph 1
- ph 2,5 DIFF ACID VS ALK MUCUS | - ph 1 +VE HIGHLY ACIDIFIED MUCINS SULFATED MUCINS
67
mc fixative
10% formalin
68
EM fixative
glutaraldehyde
69
PAP fixative
95% alcohol
70
GI Bx Testis Bx BM Bx
GI Bx BOUCINS Testis Bx BOUIN HOLLAND BM Bx ZENKER
71
human genome | coding
3,2 bi bp | 1.5%
72
individuality
- SNP | - CNV
73
biallelic mc eq dis in coding and non coding
SNP
74
larger size mc in coding only 50% CNS
CNV
75
non mendelian inheritence
- genomic imprint - TNR - mito inheritance
76
imprinted gene
DOES NOT EXPRESS
77
``` maternal disomy father del mother imprinted hyperphagia short stature hypotonia hypogonads MR ```
PRADER WILLIS
78
``` paternal disomy mother del father imprinted HAPPY PUPPETS uncontrol laugh and ataxia seizure MR ```
ANGELMAN
79
mc genetic cause of MR
downs | 2nd fragile x
80
``` TNR CGG MR large jaw large ears large forehead large testis m charac NO LARGE NOSE ```
Fragile X mutatn inc at oogenesis ANTICIPATN SHERMAN PARADOX ic severity with successive gen
81
CGG repets
normal - 30-60 pre mutated - 300-400 mutated - 3000-4000
82
heteroplasmy
mito inheritance
83
mito inheritence
``` MELAS NARP/Leigh Pearson's- pancreatic insufficiency, lactic acidoses, pancutopenia LHON CPEO MERRF KSS ```
84
IOC for chromosomal abnormality
karyotyping
85
Umbilical hernia
Down's | NOT TURNER'S
86
IQ in KLIENEFELTER'S
is low IQ NOT MR as no of x ch inc MR inc
87
Structural ch#
``` Translocation inversion -PARACENTRIC, PERICENTRIC (involves centromere) ring chromosome deletion isochromosome ```
88
Translocation - reciprocal - robertsonian
- reciprocal NO LOSS OF GENETIC MATERIAL | - robertsonian ACROCENTRIC CH, LOSS +
89
Found because of deln at end of ch | ends become sticky
ring ch
90
because of deln of 1 arm of ch mitosis occurs perpendicular too normal axis formn of ch with same arm on both sides
isochromosome
91
CF | alpha 1 AT def
7 | 14
92
ACD
acid citrate dextrose | 21 days
93
CPD
citrate phosphate dextrose | 28 days
94
CPDA | MC
citrate phosphate dextrose adenine | 35 days
95
SAGM
sod adenine glucose mannitol | 42 days
96
RBC concentrate
``` Hb 1 hct 3% 2-6 deg 350 ml 21-40 days TO BE TRANSFUSED WITHIN 4 HRS OF COLLECTION FROM BB ```
97
Platelets - random donor - single donor
-random donor 10k 50ml -single donor 30-50k 300 ml 22-24deg 5 days
98
FFP
``` -30deg plasma to be frozen <6 h collection 1 yr THAWED BEFORE USE def in 5,8 factor rich in rest and fibrinogen ```
99
RTPCR
-80deg
100
CLD DIC Haemophilia A,B Fibrinogen def
FFP
101
cryo | DOC for haemophilia A
pptd proteins from FFP so rich in - 8 - 13 - VWF - fibrinogen
102
Haemophilia A BWD Factor 13 def fibrinogen def
cryo
103
>x in 24h | >x/2 in 4h
massive blood transfusion - hypothermia - met alkalosis>acidosis - hypoca - hyper k - hypo glycemia - DILN THROMBOCYTOPENIA - DIC?
104
rbc: ffp: plasma
1:1:1
105
mc death after blood transfusion | 1-6h
TRALI
106
Mc comp after blood transfusion
FNHTR | febrile non haemolytic trasfusion reacn
107
AR CFTR gene # (Ch 7) sweat gl, lungs, pancreas, git, male genital SALTY SWEAT mc presentn
CF - cftr protein # - enac channelmc
108
CF gene is downreg of enac channel
thcik and viscous mucus plugs inc risk of inf
109
osm of fluid in lumen in CF
ISOOSM
110
CF - lungs - exo pancreas ATROPHY FIBROSIS - male genital AZOO, BL ABSENT VAS
Lung # mc staph and h influenzs MOST SP - BURKHOLDERIA CEPACIA
111
Which organ morpho not affected in CF
sweat glands
112
malig renal tumor of childhood 1-6 NEVER <1y GOOD px
wilms - blastemal - epi - stromal
113
most mature most prolif most resp to chemo :)
BLASTEMA
114
POOR PX in wilms
NUCLEAR ANAPLASIA exclusively. >2y nepho rests (BL!)
115
synd in wilms
DENYS DRASH WAGR WT1 Ch11 BECKWIDTH WIDEMAN
116
mc tumor in childood
BALL neuroblastoma wilms
117
mc site of neuroblastoma
adrenal gl
118
SMALL ROUND BLUE CELLS
``` RB NB WT - blastemal Ewings PNET lymphomas ```
119
mc mutn in NB
N MYC amp | if present poor px
120
TCR - ab - gd
- mc 95% | - 5% Ag comes in contact with blood --> GIT mucos GUT oral cavity
121
type 4 HS
TB IBD Psoriatic arthropathy
122
NCAM
NK cell 16,56 - virus - tumor cell
123
MHC
Ch 6
124
MHC 1 | MHC 2
1 - ABC a1a2 | 2 - DP,Q,R a1b1
125
- all nucleated cells and plt | - professional APC
- MHC 1 | - MHC 2
126
MHC 3
tyrosine Ohlase HSP 70 TNF alpha comp BHI
127
HLA B 5
TAO
128
DR 2
good pasteurs
129
DR 3
sjogrens
130
DQ 2,3,4
Type 1 DM
131
mc def of which complement
C2 def
132
m severe comp def
C3 def
133
early comp def
inc risk of SLE
134
late comp def | C5-9 MAC
inc risk of - neisseria - toxoplasma
135
c1 esterase def
hereditary angioneurotic edema
136
cd 55/59 def
PNH
137
def of comp BHI
HUS atypical | schistocytes
138
tolerance - central - peri
- central - BM, Thymus gene, apoptosis, del | - peri
139
peri tolerance
Anergy sup by reg T cells apoptosis by exsintric pathway FAS -ligand
140
FOX P3 mutn ---> IPEX
X linked peri tolerance CD 4,25,P3
141
mc ANA ms ANA m specific Anti Sm 1st 2nd anti dsDNA
SLE
142
drug induced lupus
anti histone ab
143
IF in ANA
homogenous DIFFUSE pattern (chromatin/histones #) Spekled mc anti centromeric (SS, localised) nucleolar
144
``` micro- ext fibrosis loss of rete pegs #dermal appendages auto amputn of digits ```
SS mc organ - SKIN ass with CREST
145
lead hose immobility
eso dysmotility in SS
146
types of ss - localied - diffuse
systemic sclerosis
147
``` extermities of forearm face # late visceral signs slow indolent anti centromeric Ab CREST mc ```
locasied SS
148
``` extermities of forearm face # + TRUNK early aggresive VISCERAL + anti RNA poly 3 Ab anti TOPOISOMERASE Ab SCL 70 +ve NO CREST ```
SS | diffuse inv
149
graft rejectn
- hyper acute - acute HUMORAL CELLULAR - chronic
150
``` pre formed AB multiple BT h/o multipara Type 2 HS THROMBOTIC OCCLN OF CAP FIBRINOID NECROSIS ```
Hyperacute graft rejectn
151
HUMORAL type 2 acute graft rejectn
deposition of COMPLEMENT C4d in PERITUBULAR CAP
152
TYPE 4 HS FIBROSIS - tubulitis and endothelitis
cellular | acute graft rejection
153
GVH
host is immunosuprressed ass with HSC Transplant T cell MAIN
154
T cell med - GVHD Graft vs leukemia effect
Graft vs leukemia effect prevent recurrance of leukemia in recipient DONT REMOVE
155
AL | AA
primary amyloid MM | secondary RA
156
HD ass amyloid
beta 2 microGlobulin
157
MCT amyloid
A Cal
158
hereditary amyloid - fam med fever - fam amyloidotic neuropathy - systemic senile amyloidosis
- fam med fever AA - fam amyloidotic neuropathy TRANSTHYRETIN MUTNT - systemic senile amyloidosis ATTR
159
localised amyloid | MOST SPECIFIC SITE - RECTAL Bx
``` A beta senile alzheimers extracelllular NON BRANCHING FIBRILSON EM 7.5-10 nm beta pleasted sheets on x ray crystallography IR ```
160
early Type 1 HS
Ag exposure needed histamine PAF LT B,C,D,E
161
late type 1 HS
``` cont Ag ex NOT NEEDED IL 5 eotaxin MBP ECP ```
162
``` GBM ANCA vasculitis Graves LATS Pernicious MG ITP ```
type 2 HS
163
SS ARTHUS SLE anti sm PAN HePB
type 3 HS
164
T4 granuloma | T8 - perf and granzymes
Type 4 HS
165
``` T4 TB MS anti myelin sheath Type 1 DM RA ```
il 12, inf gamma
166
adhesion release of granules aggregation
primary plt plug - bernard soulier - glanzman - vwd
167
main activation of fac 10
fac 8 and 9
168
``` factor names 1 2 8,9,11 10 ```
1 FIBRINOGEN 2 PROTHROMBIN 8,9,11 HEMOPHILIA ABC 10 STUART PROWER
169
lowest t1/2 | longest t1/2
8 (4-6h) | 13 (fibrin stab fac) (11-14 d) UREA LYSIS CLOT test
170
not synth by liver
8a vWF BY ENDOTHELIUM!
171
PT inc APTT PC
early liver # | early vit k def
172
PT APTT inc PC
def or inhibitor of 8,9,11
173
PT inc APTT inc PC
CLD | Late vit k def
174
PT inc APTT inc PC dec
DIC
175
PT APTT PC dec
THROMBOCYTOPENIA - hyper spleen - itp - infections - dec prod by BM
176
PT APTT PC
qualitative plt dis
177
``` children severe more bleeding mc pc 20k self limit VIRAL INF ```
ACUTE ITP
178
``` adults less severe rerely bleeds pc 50-80k >6m ```
chronic ITP
179
vwd types
1 mc AD quaNtitative mild def 2 AD Qualitative 3 m severe AR quaNtitative
180
RIPA test | ristocetin ind plt agg test
VWD
181
ADP Collagen Ristocetin DEC /ABSENT
vWD | BSS
182
ADP dec Collagen dec Ristocetin
glansman
183
HIT types 1 2
1 - immediately on Rx non specific symp NO NEED TO STOP HEPARIN 2 - 5-14d after Rx STOP!
184
hit?
complexing of hepatin with Plt factor 4 | IgG Ab
185
ectopic disorganised tissue | disorganised indegenous
coristoma | hamartoma
186
high NC ratio nuclear pleo high mitosis large irreg hyper chrom nucleus
DYSplasia
187
most ch od malig
mets | 2nd - capsular invasion
188
high telomerase activity | warburg effect
tumor
189
vhl
ch 3 | clear cell RCC
190
papillary RCC
ch 7 | CMET mutation
191
NF 1
ass with neurofibromas MPNST ch 17
192
NF 2
ass with shwannomas | myelin CH 22
193
MEN 1 2
1 - mennin 11 | 2 - RET 10
194
peutz jeghers
stk11
195
brca 1 | brca 2
1 - TN medullary Vh 17 | 2 - ER + HER - Ch 13
196
check points in cell cycle
G1S | G2M
197
G1S cyclins?
cyclin D | CDK 4
198
G2M cyclin?
Cyclin B | CDK 1
199
cell cycle inhibitor kip/cip fam ink 4/arf fam
kip/cip fam tgfbeta and tp53 | ink 4/arf fam - G1S
200
competes with cyclin d for binding to cdk 4/6 inc p53 by #MDM2 inc activity of rb 13q
INK 4
201
warburg effect
helps in pet scan | 18FDG
202
HIV + NHL
mc DLBCL | 2ND KAPOSI HHV8
203
KAPOSI
primary effusion lymphoma | castle man dis
204
``` HCC YOLK SAC Hep C hepatoblastoma cirrhosis dec in downs ```
AFP
205
NSE
small cell ca lung
206
CA 125
ovarian ca
207
Ca 15/3
breast ca
208
ca 72-4
gastric ca
209
ca 19 9
colon ca | pancreartic ca
210
cea
ca lung git ovaries pancreas
211
TTF 1
inc in follicles neoplasm thyroid lung ca wilms NOT INC IN MCT
212
Cytokeratin +
Carcinomas
213
vimentin +
sarcomas
214
desmin +
rhabdo
215
HMB 45 + specific | S100 +
melanoma
216
LCH | shwannoma
s100
217
stain for melanoma
masson FONTANA
218
GFAP
glioma
219
uterus during parturtn ms in body builder breast in lactn
HYPERTROPHY
220
hypertrophy + hyperplasia
breast in puberty + preg
221
mc necrosis type
coagulatuve ass with ischaemia expcns ishemia
222
caspase dep cell death
apoptosis - m charc CHROMATIN SHRIKAGE - no leakageof contents - CM intact
223
types of apoptosis
intrinsic | extrinsic
224
ass with cyto c from mito CASPASE 9 initiates CASPASE 3&6 EXECUTES
intrinsic apoptosis mito apoptosis MAJOR
225
FAS FASligand CASPASE 8&10 initiate caspase 3&6 executes
extrinsic apoptosis
226
Anti apoptosis
BCL 2 BCL XL MCL 1 FLIP
227
Pro apoptotic
BIM BAX BAD BID
228
Dx apoptosis
measure cytochrome c annexin 5 tunel technique gel electrophoresis
229
gel electrophoresis - diffuse smearing - step ladder
- necrosis | - apoptosis
230
extrinsic pathway of apoptosis activated - caspase 8+ ---> apoptosis - failure of activtn --> mito damage --> necrosis
necroptosis biochem - apoptosis microscopically - necrosis CASPASE INDEP PROGRAMMED CELL DEATH

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