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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
Q

complex of numerous proteins
healthy - inactive
inflammn - active

A

NADPH oxidase pathway

O2 –> nadph oxidase —> O 2- —-> SOD —> H2O2 —> MPO/Cl2 —-> HOCl

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26
Q

lysosomal enz

A

primary - azurophilic MPO, proteinase 3
sec/specific - Alkaline phosphatase
tertiary - gelatiinase

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27
Q

NOS types

A

endothel - vessel
neuronal - NT
inducible - main in inflammn

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28
Q

chemokines

A

CXC alpha
CC beta
C gamma
CX3C

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29
Q

CXC

1 aa btw 2 ccr

A 
NEUTROPHILS 
CHEMOTACTIC 
IL 1
8
TNF alpha
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30
Q

CC

0 aa

A

ALL WBC except neutrophils

  • eotaxin
  • monocyte chemoattractant 1 MCP1
  • T cells RANTES
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31
Q

C

A

LYMPHOCYTES

lymphotactin

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32
Q

Cx3C

A

MONOCYTES

fractaniline

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33
Q

acute cytokines

A

IL 1
8
TNF alpha
Il 17

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34
Q

chronic cytokines

A

macrophage activtn TYPE 4
IL 12
17
INF gamma

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35
Q

arach acid derivatives

A

AA = 5,8,11,14

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36
Q

COX

A

PGs
D,I,E - vasodil and dec plt aggregtn
TXA 2 vasoconstrict and inc aggrtn

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37
Q

LOX

A

LTB4 most potent chemotactic
LT C,D,E - asthma
lipoxins ANTIINFLAMM

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38
Q

ANTI INFLAMM cytokines

A

IL 10
TGF beta
lipoxins

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39
Q

both pro and anti inflamm

A

IL 6

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40
Q

Epo oxygenase pathway

A

20 HETE renal HTN

EET anti HTN

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41
Q

icosanoid pathway

A

non enz
free radical based peroxidatn
HTN

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42
Q

MACROPHAGE actvn

  • classical
  • alternative
A
  • classical PRO INFLAMM IL 12, INF gamma

- alternative ANTI INFLAMM IL10, TNF gamma

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43
Q

xanthogranulomatous giant cells

A

TOUTON giant cells

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44
Q

quiescent cells

A

smooth ms
cells of kidney, liver and pancreas
endothelial cells

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45
Q

wound strength

  • after suturing
  • suture removal
A
  • after suturing 70%
  • suture removal rapidly gained in 3-4 wks to 80%
    max by 3m 88 %
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46
Q

bone
cornea
skin
endomyseum of myofibrils

A

type 1 collagen

  • mc
  • mc component of org bone
  • high tensile
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47
Q

cartilage

vitreous

A

type 2

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48
Q

granulation tissue

A

type 3 collagen

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49
Q

scarring after wound healing

A

type 1 collagen

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50
Q

BM

eye LENS

A

type 4

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51
Q

placenta

A

type 5

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52
Q

beneath st sq epi

resp for DEJ

A

type 7

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53
Q

FACIT collagen

resp maintaining col-col interaction

A

type 9

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54
Q

mc stain

A

h&e

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55
Q

renal stain

A

pas
sbb
mt

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56
Q

oncohemat

A 
mpo 
sbb
pas
nse
trap
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57
Q

supravital or retic stain

A

mast cells

toludiene blue

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58
Q

calcium

  • mc
  • ms
A
  • mc VON KOSSA

- ms alizarin red s

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59
Q

Fat

  • fresh (adeq of margins)
  • frozen
A
  • fresh OIL RED O < 15min

- frozen SBB <3d

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60
Q

Cu stains

A

Ocrein

mod Rhodamine

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61
Q

Shikata ocrein

A

HbSAg

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62
Q

Amyloid

A

congo red SALMON/BIRD red
PAS
thioflamin T yellow

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63
Q

Elastin

A

verhoff von giessen

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64
Q

Fibrin

A

martins scarlet blue

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65
Q

grocotti methanamine silver

A

fungus

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66
Q

alcian blue

  • ph 2,5
  • ph 1
A
  • ph 2,5 DIFF ACID VS ALK MUCUS

- ph 1 +VE HIGHLY ACIDIFIED MUCINS SULFATED MUCINS

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67
Q

mc fixative

A

10% formalin

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68
Q

EM fixative

A

glutaraldehyde

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69
Q

PAP fixative

A

95% alcohol

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70
Q

GI Bx
Testis Bx
BM Bx

A

GI Bx BOUCINS
Testis Bx BOUIN HOLLAND
BM Bx ZENKER

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71
Q

human genome

coding

A

3,2 bi bp

1.5%

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72
Q

individuality

A
  • SNP

- CNV

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73
Q

biallelic
mc
eq dis in coding and non coding

A

SNP

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74
Q

larger size
mc in coding only
50% CNS

A

CNV

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75
Q

non mendelian inheritence

A
  • genomic imprint
  • TNR
  • mito inheritance
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76
Q

imprinted gene

A

DOES NOT EXPRESS

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77
Q 
maternal disomy 
father del 
mother imprinted 
hyperphagia 
short stature 
hypotonia 
hypogonads 
MR
A

PRADER WILLIS

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78
Q 
paternal disomy 
mother del 
father imprinted 
HAPPY PUPPETS 
uncontrol laugh and ataxia 
seizure
MR
A

ANGELMAN

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79
Q

mc genetic cause of MR

A

downs

2nd fragile x

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80
Q 
TNR CGG 
MR 
large jaw 
large ears 
large forehead 
large testis m charac 
NO LARGE NOSE
A

Fragile X
mutatn inc at oogenesis
ANTICIPATN SHERMAN PARADOX
ic severity with successive gen

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81
Q

CGG repets

A

normal - 30-60
pre mutated - 300-400
mutated - 3000-4000

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82
Q

heteroplasmy

A

mito inheritance

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83
Q

mito inheritence

A 
MELAS
NARP/Leigh
Pearson's- pancreatic insufficiency, lactic acidoses, pancutopenia
LHON
CPEO
MERRF 
KSS
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84
Q

IOC for chromosomal abnormality

A

karyotyping

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85
Q

Umbilical hernia

A

Down’s

NOT TURNER’S

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86
Q

IQ in KLIENEFELTER’S

A

is low IQ
NOT MR
as no of x ch inc MR inc

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87
Q

Structural ch#

A 
Translocation
inversion -PARACENTRIC, PERICENTRIC (involves centromere)
ring chromosome
deletion
isochromosome
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88
Q

Translocation

  • reciprocal
  • robertsonian
A
  • reciprocal NO LOSS OF GENETIC MATERIAL

- robertsonian ACROCENTRIC CH, LOSS +

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89
Q

Found because of deln at end of ch

ends become sticky

A

ring ch

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90
Q

because of deln of 1 arm of ch
mitosis occurs perpendicular too normal axis
formn of ch with same arm on both sides

A

isochromosome

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91
Q

CF

alpha 1 AT def

A

7

14

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92
Q

ACD

A

acid citrate dextrose

21 days

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93
Q

CPD

A

citrate phosphate dextrose

28 days

94
Q

CPDA

MC

A

citrate phosphate dextrose adenine

35 days

95
Q

SAGM

A

sod adenine glucose mannitol

42 days

96
Q

RBC concentrate

A 
Hb 1
hct 3%
2-6 deg
350 ml
21-40 days
TO BE TRANSFUSED WITHIN 4 HRS OF COLLECTION FROM BB
97
Q

Platelets

  • random donor
  • single donor
A

-random donor 10k 50ml
-single donor 30-50k 300 ml
22-24deg
5 days

98
Q

FFP

A 
-30deg
plasma to be frozen <6 h collection
1 yr 
THAWED BEFORE USE 
def in 5,8 factor
rich in rest and fibrinogen
99
Q

RTPCR

A

-80deg

100
Q

CLD
DIC
Haemophilia A,B
Fibrinogen def

A

FFP

101
Q

cryo

DOC for haemophilia A

A

pptd proteins from FFP so rich in

  • 8
  • 13
  • VWF
  • fibrinogen
102
Q

Haemophilia A
BWD
Factor 13 def
fibrinogen def

A

cryo

103
Q

> x in 24h

>x/2 in 4h

A

massive blood transfusion

  • hypothermia
  • met alkalosis>acidosis
  • hypoca
  • hyper k
  • hypo glycemia
  • DILN THROMBOCYTOPENIA
  • DIC?
104
Q

rbc: ffp: plasma

A

1:1:1

105
Q

mc death after blood transfusion

1-6h

A

TRALI

106
Q

Mc comp after blood transfusion

A

FNHTR

febrile non haemolytic trasfusion reacn

107
Q

AR
CFTR gene # (Ch 7)
sweat gl, lungs, pancreas, git, male genital
SALTY SWEAT mc presentn

A

CF

  • cftr protein #
  • enac channelmc
108
Q

CF gene is downreg of enac channel

A

thcik and viscous
mucus plugs
inc risk of inf

109
Q

osm of fluid in lumen in CF

A

ISOOSM

110
Q

CF

  • lungs
  • exo pancreas ATROPHY FIBROSIS
  • male genital AZOO, BL ABSENT VAS
A

Lung #
mc staph and h influenzs
MOST SP - BURKHOLDERIA CEPACIA

111
Q

Which organ morpho not affected in CF

A

sweat glands

112
Q

malig renal tumor of childhood
1-6 NEVER <1y
GOOD px

A

wilms

  • blastemal
  • epi
  • stromal
113
Q

most mature
most prolif
most resp to chemo :)

A

BLASTEMA

114
Q

POOR PX in wilms

A

NUCLEAR ANAPLASIA exclusively.
>2y
nepho rests (BL!)

115
Q

synd in wilms

A

DENYS DRASH
WAGR WT1 Ch11
BECKWIDTH WIDEMAN

116
Q

mc tumor in childood

A

BALL
neuroblastoma
wilms

117
Q

mc site of neuroblastoma

A

adrenal gl

118
Q

SMALL ROUND BLUE CELLS

A 
RB
NB
WT - blastemal
Ewings PNET 
lymphomas
119
Q

mc mutn in NB

A

N MYC amp

if present poor px

120
Q

TCR

  • ab
  • gd
A
  • mc 95%

- 5% Ag comes in contact with blood –> GIT mucos GUT oral cavity

121
Q

type 4 HS

A

TB
IBD
Psoriatic arthropathy

122
Q

NCAM

A

NK cell
16,56
- virus
- tumor cell

123
Q

MHC

A

Ch 6

124
Q

MHC 1

MHC 2

A

1 - ABC a1a2

2 - DP,Q,R a1b1

125
Q
  • all nucleated cells and plt

- professional APC

A
  • MHC 1

- MHC 2

126
Q

MHC 3

A

tyrosine Ohlase
HSP 70
TNF alpha
comp BHI

127
Q

HLA B 5

A

TAO

128
Q

DR 2

A

good pasteurs

129
Q

DR 3

A

sjogrens

130
Q

DQ 2,3,4

A

Type 1 DM

131
Q

mc def of which complement

A

C2 def

132
Q

m severe comp def

A

C3 def

133
Q

early comp def

A

inc risk of SLE

134
Q

late comp def

C5-9 MAC

A

inc risk of

  • neisseria
  • toxoplasma
135
Q

c1 esterase def

A

hereditary angioneurotic edema

136
Q

cd 55/59 def

A

PNH

137
Q

def of comp BHI

A

HUS atypical

schistocytes

138
Q

tolerance

  • central
  • peri
A
  • central - BM, Thymus gene, apoptosis, del

- peri

139
Q

peri tolerance

A

Anergy
sup by reg T cells
apoptosis by exsintric pathway FAS -ligand

140
Q

FOX P3 mutn —> IPEX

A

X linked
peri tolerance
CD 4,25,P3

141
Q

mc ANA
ms ANA
m specific Anti Sm 1st
2nd anti dsDNA

A

SLE

142
Q

drug induced lupus

A

anti histone ab

143
Q

IF in ANA

A

homogenous DIFFUSE pattern (chromatin/histones #)
Spekled mc
anti centromeric (SS, localised)
nucleolar

144
Q 
micro-
ext fibrosis 
loss of rete pegs 
#dermal appendages 
auto amputn of digits
A

SS
mc organ - SKIN
ass with CREST

145
Q

lead hose immobility

A

eso dysmotility in SS

146
Q

types of ss

  • localied
  • diffuse
A

systemic sclerosis

147
Q 
extermities of forearm
face #
late visceral signs
slow indolent 
anti centromeric Ab
CREST mc
A

locasied SS

148
Q 
extermities of forearm
face # + TRUNK 
early 
aggresive VISCERAL + 
anti RNA poly 3 Ab 
anti TOPOISOMERASE Ab 
SCL 70 +ve 
NO CREST
A

SS

diffuse inv

149
Q

graft rejectn

A
  • hyper acute
  • acute HUMORAL CELLULAR
  • chronic
150
Q 
pre formed AB
multiple BT h/o
multipara
Type 2 HS 
THROMBOTIC OCCLN OF CAP 
FIBRINOID NECROSIS
A

Hyperacute graft rejectn

151
Q

HUMORAL type 2 acute graft rejectn

A

deposition of COMPLEMENT C4d in PERITUBULAR CAP

152
Q

TYPE 4 HS
FIBROSIS
- tubulitis and endothelitis

A

cellular

acute graft rejection

153
Q

GVH

A

host is immunosuprressed
ass with HSC Transplant
T cell MAIN

154
Q

T cell med -
GVHD
Graft vs leukemia effect

A

Graft vs leukemia effect
prevent recurrance of leukemia in recipient
DONT REMOVE

155
Q

AL

AA

A

primary amyloid MM

secondary RA

156
Q

HD ass amyloid

A

beta 2 microGlobulin

157
Q

MCT amyloid

A

A Cal

158
Q

hereditary amyloid

  • fam med fever
  • fam amyloidotic neuropathy
  • systemic senile amyloidosis
A
  • fam med fever AA
  • fam amyloidotic neuropathy TRANSTHYRETIN MUTNT
  • systemic senile amyloidosis ATTR
159
Q

localised amyloid

MOST SPECIFIC SITE - RECTAL Bx

A 
A beta 
senile alzheimers 
extracelllular 
NON BRANCHING FIBRILSON EM 7.5-10 nm
beta pleasted sheets on x ray crystallography IR
160
Q

early Type 1 HS

A

Ag exposure needed
histamine
PAF
LT B,C,D,E

161
Q

late type 1 HS

A 
cont Ag ex NOT NEEDED
IL 5
eotaxin
MBP
ECP
162
Q 
GBM
ANCA vasculitis 
Graves LATS
Pernicious 
MG 
ITP
A

type 2 HS

163
Q

SS
ARTHUS
SLE anti sm
PAN HePB

A

type 3 HS

164
Q

T4 granuloma

T8 - perf and granzymes

A

Type 4 HS

165
Q 
T4 
TB
MS anti myelin sheath 
Type 1 DM 
RA
A

il 12, inf gamma

166
Q

adhesion
release of granules
aggregation

A

primary plt plug

  • bernard soulier
  • glanzman
  • vwd
167
Q

main activation of fac 10

A

fac 8 and 9

168
Q 
factor names 
1
2
8,9,11
10
A

1 FIBRINOGEN
2 PROTHROMBIN
8,9,11 HEMOPHILIA ABC
10 STUART PROWER

169
Q

lowest t1/2

longest t1/2

A

8 (4-6h)

13 (fibrin stab fac) (11-14 d) UREA LYSIS CLOT test

170
Q

not synth by liver

A

8a
vWF
BY ENDOTHELIUM!

171
Q

PT inc
APTT
PC

A

early liver #

early vit k def

172
Q

PT
APTT inc
PC

A

def or inhibitor of 8,9,11

173
Q

PT inc
APTT inc
PC

A

CLD

Late vit k def

174
Q

PT inc
APTT inc
PC dec

A

DIC

175
Q

PT
APTT
PC dec

A

THROMBOCYTOPENIA

  • hyper spleen
  • itp
  • infections
  • dec prod by BM
176
Q

PT
APTT
PC

A

qualitative plt dis

177
Q 
children 
severe
more bleeding mc 
pc 20k 
self limit 
VIRAL INF
A

ACUTE ITP

178
Q 
adults 
less severe 
rerely bleeds 
pc 50-80k 
>6m
A

chronic ITP

179
Q

vwd types

A

1 mc AD quaNtitative mild def
2 AD Qualitative
3 m severe AR quaNtitative

180
Q

RIPA test

ristocetin ind plt agg test

A

VWD

181
Q

ADP
Collagen
Ristocetin DEC /ABSENT

A

vWD

BSS

182
Q

ADP dec
Collagen dec
Ristocetin

A

glansman

183
Q

HIT types
1
2

A

1 - immediately on Rx non specific symp NO NEED TO STOP HEPARIN
2 - 5-14d after Rx STOP!

184
Q

hit?

A

complexing of hepatin with Plt factor 4

IgG Ab

185
Q

ectopic disorganised tissue

disorganised indegenous

A

coristoma

hamartoma

186
Q

high NC ratio
nuclear pleo
high mitosis
large irreg hyper chrom nucleus

A

DYSplasia

187
Q

most ch od malig

A

mets

2nd - capsular invasion

188
Q

high telomerase activity

warburg effect

A

tumor

189
Q

vhl

A

ch 3

clear cell RCC

190
Q

papillary RCC

A

ch 7

CMET mutation

191
Q

NF 1

A

ass with neurofibromas
MPNST
ch 17

192
Q

NF 2

A

ass with shwannomas

myelin CH 22

193
Q

MEN
1
2

A

1 - mennin 11

2 - RET 10

194
Q

peutz jeghers

A

stk11

195
Q

brca 1

brca 2

A

1 - TN medullary Vh 17

2 - ER + HER - Ch 13

196
Q

check points in cell cycle

A

G1S

G2M

197
Q

G1S cyclins?

A

cyclin D

CDK 4

198
Q

G2M cyclin?

A

Cyclin B

CDK 1

199
Q

cell cycle inhibitor
kip/cip fam
ink 4/arf fam

A

kip/cip fam tgfbeta and tp53

ink 4/arf fam - G1S

200
Q

competes with cyclin d for binding to cdk 4/6
inc p53 by #MDM2
inc activity of rb 13q

A

INK 4

201
Q

warburg effect

A

helps in pet scan

18FDG

202
Q

HIV + NHL

A

mc DLBCL

2ND KAPOSI HHV8

203
Q

KAPOSI

A

primary effusion lymphoma

castle man dis

204
Q 
HCC 
YOLK SAC 
Hep C 
hepatoblastoma
cirrhosis 
dec in downs
A

AFP

205
Q

NSE

A

small cell ca lung

206
Q

CA 125

A

ovarian ca

207
Q

Ca 15/3

A

breast ca

208
Q

ca 72-4

A

gastric ca

209
Q

ca 19 9

A

colon ca

pancreartic ca

210
Q

cea

A

ca lung
git
ovaries
pancreas

211
Q

TTF 1

A

inc in follicles neoplasm thyroid
lung ca
wilms
NOT INC IN MCT

212
Q

Cytokeratin +

A

Carcinomas

213
Q

vimentin +

A

sarcomas

214
Q

desmin +

A

rhabdo

215
Q

HMB 45 + specific

S100 +

A

melanoma

216
Q

LCH

shwannoma

A

s100

217
Q

stain for melanoma

A

masson FONTANA

218
Q

GFAP

A

glioma

219
Q

uterus during parturtn
ms in body builder
breast in lactn

A

HYPERTROPHY

220
Q

hypertrophy + hyperplasia

A

breast in puberty + preg

221
Q

mc necrosis type

A

coagulatuve ass with ischaemia expcns ishemia

222
Q

caspase dep cell death

A

apoptosis

  • m charc CHROMATIN SHRIKAGE
  • no leakageof contents
  • CM intact
223
Q

types of apoptosis

A

intrinsic

extrinsic

224
Q

ass with cyto c from mito
CASPASE 9 initiates
CASPASE 3&6 EXECUTES

A

intrinsic apoptosis
mito apoptosis
MAJOR

225
Q

FAS FASligand
CASPASE 8&10 initiate
caspase 3&6 executes

A

extrinsic apoptosis

226
Q

Anti apoptosis

A

BCL 2
BCL XL
MCL 1
FLIP

227
Q

Pro apoptotic

A

BIM
BAX
BAD
BID

228
Q

Dx apoptosis

A

measure cytochrome c
annexin 5
tunel technique
gel electrophoresis

229
Q

gel electrophoresis

  • diffuse smearing
  • step ladder
A
  • necrosis

- apoptosis

230
Q

extrinsic pathway of apoptosis activated

  • caspase 8+ —> apoptosis
  • failure of activtn –> mito damage –> necrosis
A

necroptosis
biochem - apoptosis
microscopically - necrosis
CASPASE INDEP PROGRAMMED CELL DEATH

Last Leg (9 decks)

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