PATHOLOGY 1 Flashcards
(118 cards)
1
Q
CHEDIAK HIGASHI SYNDROME
A
Autosomal recessive genetic disorder,def of lyst gene,occurs in childhood charrectrised by decreased pigment in skin and eyes, decreased immunity
2
Q
OWLS EYE INCLUSION SEEN IN
A
Owl’s eye appearence of inclusion bodies is highly specific for cytomegalovirus infection,owls eye appearence of entire nucleus: finding in reed sternberg cells in hodgkin lymphoma
3
Q
GIANT CELL
A
Multiple macrophage fuse to form bigger cell ,indication of severe infection
4
Q
LANGHANS GIANT CELL
A
These nuclei are like nuclei of macrophage and epitheloid cells,
Nuclei are arranged either around periphery in the form of[horse shoe]or ring,
Or clustered at [two pole] of giant cell
Examples:1)tuberculosis
2)syphilis
3)sarcoidosis
5
Q
TOUTON GIANT CELL
A
Macrophages that engulf lipid and cholestrol materiel form multinucleated giant cell that have foamy soap buble like cytoplasm
Seen in granulomas of xanthoma
6
Q
WARTHIN FINKELDEY GIANT CELL
A
Seen in measles
7
Q
CHRONIC GRANUMALTOUS DISEASE
A
Mutations in any gene can cause defect in enzyme nadph oxidase,certain wbc use this enzyme to produce hydrogen peroxide which is needed for killing bacteria,
There will be reccurent infections (aspergillus)
Diagnosis:nbt test,flow cytometry
8
Q
RED MAN SYNDROME
A
Most common adverse reaction to drug vancomycin,typically consist of pruritis-erythmatous rash of face neck and upper torso,is due to release of histamine
9
Q
HISTAMINE
A
Compounds involved in immune response
Once released from granules it produces effect in the body like
1)contraction of smooth muscle of lung(bronchoconstriction),uterus stomach
The dilation of blood vessel,which decrease blood preasure(vasodilator)
Mast cells mainly produces histamine
10
Q
SEROTONIN
A
Released by platellets and basophils
Key hormone that stabilize our mood, feeling of well being happiness
It enables brain cells and other nervous system cell to communicate each other
Helps in sleeping eating digestion
11
Q
SEROTONIN IN INFLAMATION
A
Relaesed by platellets and basophils
Platellets relase serotonin during inflammation as a mean to activate endothelial cell and promote leukocyte adhesion and recruitment
Stored in enterochrommafin cells of git
12
Q
CARCINOID SYNDROME
A
Caused by excess secretion of serotonin Symptoms include tricuspid valve thickening and stenosis Diarhea Flushing Liver hepatomegally Nausea Vomiting Respiratory cough dyspnea Hemoptysis
13
Q
ATROPHY
A
Reduction of size of cell
14
Q
HYPERTROPHY
A
Increase in size
15
Q
HYPOTROPHY or ATROPHY
A
Decrease in size
16
Q
HYPERPLASIA
A
Increase in no
17
Q
HYPOPLASIA/APLASIA
A
Decrease in no
18
Q
METAPLASIA
A
Change in shape of cell
19
Q
DYSPLASIA
A
Abnormal growth in cell not cancer but can become cancer
20
Q
EXAMPLES OF MITOCHONDRIYAL INHERITANCE
A
If mother is effected all babies are effected
Melas :mitochondriyal encephalopathy lactic acidosis stroke
Lhon:labers heridotory optic neuropathy
Diabetes deafness
NARP:Neuritis ,ataxia,retinitis pigmentosa
Myoclonic epilepsy
21
Q
MOSAICISM
A
When entire family tree is normal there is development of mosaic gene in one baby Eg:tuberculosclerosis Osteogenesis imperfecta Achandroplasia Down syndrome
22
Q
OSTEOGENESIS IMPERFECTA
A
Brittle bone disease
Mutation in the geneCOL1A1,COL1A2
23
Q
GENE MUTATION IN ACHANDROPLASIA
A
Is the bone growth disorder
Dwarfism
Defect in the gene fibroblast growth factor receptor3
24
Q
CHAMPAGNE GLASS PELVIS SEEN IN
A
Achandroplasia
25
TUBEROUS SCLEROSIS
A type of mosaicism
Abnormal growth or tumours in the brain , can be in skin eye ,kidney heart
Mutation in gene tsc1,tsc2
A triad is seen—-: epilepsy
Low iq
Adenoma sebacium
26
UNIPARENTAL DISOMY
Occurs when a child recieves two copies of chromosome from one parent and no copies from other parent
27
EXAMPLES OF UNIPARENTAL DISOMY(maternal deletion)
```
1)maternal deletion—::(paternal disomy) ::person gets 2 chromosome from only father not from mother
Example:angelman syndrome
Symptoms:SARI(angel, mother)
Seizures
Ataxia
Retarded mentaly
Inaappropriate laughter
Occurs due to changes in chromosome 15
```
28
EXAMPLE OF UNIRPARENTAL DISOMY(paternal deletion)
```
Maternal disomy
Person get 2 chromosome from only mother
Example::pradeewilli syndrome
Sympt:obese
Low iq
Hypotonia
Change in chromosome 15
```
29
TRISOMY
Extra chromosome
| Mainly occurs at chromosome 13,18,21
30
DOWNS SYNDROME
```
Trisomy at 21
3 main cauzes
Miotic non disjunction
Robertson translocation
Mosaicism
Symptoms;;-growth failure
Flat back or head
Abnormal ears
Simian palmar crease
Unilateral or bilateral absence of ribs
Intestinal blockage
Hypotonia of musle
Umbilical hernia
Broad flat face
Slanting eyes
Short nose
Small and arched palate
Big wrinkled tongue
Congenital heart disease
Enlarged colon
Big toes widely spaced
```
31
DOWN SYNDROME SCREENING
```
Ist trimester screening test
Maternal serum markers::
Placental protein A
Free beta hcg
2 nd trimester screening test
Maternal serum markers::
AFP(decreases)
ESTRIOL(decreases)
HCG(increases)
+
Inhibin(increases)
```
32
MOST COMMON LIVE TRISOMY
Down syndrome
33
PATAU SYNDROME
```
Trisomy at chromosome 13
Symptoms::
Mental retardation
Cardiac defect
Renal defect
Git defect
Polydectaly
Cleft lip and cleft palate
Microcephaly
Microopthalmia
```
34
EDWARD SYNDROME
```
Trisomy at 18
Symptoms::
Mental retardation
Cardiac defect
Renal defect
Git defect
Overlapping fingers
Prominent occiput
ROCKER BOTTOM FEET CLAASICAL FEATURE
```
35
KLEINFELTER SYNDROME
```
Trisomy of x
Males with short testes
Female type of hair
Gynecomastia
Tall height
Iq slightly low
Heart defect(mitral valve)
Testicular atrophy
Infertile
```
36
MONOSOMY
Is when they have one chromosome instead of 2 chromosome
37
MONOSOMY X
```
Turner syndrome
Female has only one x chromosome instead of 2
Symptoms::
Short height
Webbed neck
Small breast
Widely spaced nipples
Heart defect (coartication of aorta)
Pigmented nevi
Peripheral lymphadenoma
Streak ovaries (infertile)
NORMAL IQ SEEN NO MENTAL RETARDATION
```
38
MONOSOMY OF 7 CAN LEAD TO
Heamatological malignancy
39
NEONAN SYNDROME
```
Mutations in ptpn11 gene
Symptoms::
Braod forehead
Caorse hair
Flat nasal bridge
Occupar hypertelorism
Small receding chin
Sad facial expresiion
High arched palate
Mental retardation
Webbing of neck
Congenital heart defect
Short height
```
40
CRIDU CHAT SYNDROME
Known as 5p- syndrome
A chromosomal condition when a peice of chromosome 5 is mising
Infants with this condition has high pitched cry like cats
41
DIGEORGE SYNDROME
```
Its a deletion syndrome of 22 q
Also called thymic hypoplasia
Symptoms:cardiac defects
Abnormal face
Thymic hypoplasia
Cleft palate
Hypocalcemia
Small jaw small upper lip/mouth
Eyes slanted upward
```
42
POINT MUTATION
Mutation is a change of nucleotide sequence of gene or chromosome
When there is only one nucleotide involved they are called point mutation
3 types
Silent mutation
Miscence mutation
Nonsense mutation
43
SILENT MUTATION
A mutation that does not cause a significant change in amino acid
The protein is still funtional
Silent mutation occurs in non coding regions
Or within exons
44
MISCENCE MUTATION
A form of point mutation resulting in a codon that codes for different amino acid and causes synthesis of protein with altered amino acid sequence during translation
For eg:sickle cell disease ,20 th nucleotide of gene for beta chain of chromosome 11 is changed from codon GAG TO GTG
45
NONSENSE MUTATION
Is a type of mutation resulting in nonsense codon
They would not code for an amino acid
Possible outcome is a protein that is early truncated,incomplete non funtional
Eg: thalasemia
Duschene muscular dystrophy caused by nonsense mutation in gene for protein dystrophin
46
AUTOGRAFT
Transplanting within same body
47
ISOGRAFT
Transplanting within identical twins
48
ALLOHRAFT
Between same species(humans to human)
49
XENOGRAFT
Between defferent species
50
HLA MATCHING NOT MANDATORY FOR
Cornea
Heart
Liver
51
HYPER ACUTE GRAFT REJECTION
Within 24-48 hours
Occurs due to preformed AB
Type 2 hypersensitivity
52
ACUTE GRAFT REJECTION
Occurs within 100 days
Occurs due to cd4 and t cells
Type 2-4 hypersnsitivity
53
CHRONIC GRAFT REJECTION
Occurs after 100 days
Due to fibrosis
Type 4 hypersnsitivity
54
M/C INFECTION AFTER TRANSPLANT
Cmv
55
POST TRANSPLANT LYMPHOMA
Ebv
56
INNATE IMMUNITY
```
Since birth
Cant be changed
Non specific
No memory
NK CELLS main cell
```
57
ACQUIRED OR ADAPTIVE IMMUNITY
```
Acquired
Can be changed
Specific
Memory
B T CELLS
```
58
IMMUNE SYSTEM CELLS
```
MAIN CELLS::—-
T CELL(70./.)
B cells(20)
Nk cells(10)
ASSISTING CELLS OR APC:—
B CELLS
MACROPHAGE
DENDRITIC CELLS
```
59
MOST POTENT APC
Dendritic cell
60
T CELLS
Produced in bone marrow
Matured in thymus
Present in para cortex of LN
Perarteriosis of spleen
61
HELPER T CELL
CD4
62
CYTOTOXIC T CELL
CD 8
63
NORMAL CD4 CD8 ratio
CD4/CD8=2/1
64
IN HIV CD 4-CD8 RATIO
In hiv cd4 decreases
| CD4/CD8 ratio is 1/2
65
SARCOIDOSIS CD4 -CD8 ratio
In sarcoidosis cd4 increases
| CD4/CD8=5/1
66
B CELL
Produced and matured in bone marrow
Present in cortex of lymph node
And white pulp of spleen
67
CD 10
Also known asCALLA-common acute lymphocytic leukemia antigen
| It acts as an AG FOR acute lymphocytic leukemia,burkkit lymphoma,follicular germinal layer lymphoma
68
MHC
Group of genes that code for proteins that help immune system recogonize foreign substance
In humans they are called human leukocyte antigen
They are mainly 3 types
MHC1::
They are present in every cell
CD8 t cells are activated upon recogonition of antigens presented by mhc class 1
Absent in rbc
MHC 2::
They are present in immune system cells macrophage and lymphocyte
Present in apc
CD8 t cells are activated upon recogonition of antigens presented by mhc class 2
MHC3::
They code for complement proteins,cytokines,
Invovled in autoimmune disease
69
HLA B 27
```
We can acess auto immune disorders with the presence of hla b 27 on cells(rbc)
Presence of hla b 27 have an increased likelihood of
Auto immune diseases such as
Ankylosing spondolytis
Juvenile rheumatoid arthritis
Reactive arthritis
Psoriac arthritis
Ibd associated arthritis
Acute anterior uveitis
```
70
WHEN IS HLA B27 TEST ORDERED
When a person has acute or chronic pain and inflammation in spine,neck, chest,eyes or joints and if we suapect a auto immune disorder
And can can also ordered when someone has reccurent uveitis
71
PAN T CELL
Cd3
72
HELPER T CELL
Cd 4
73
CYTOTOXIC T CELL
Cd 8
74
PAN B CELL
Cd 19
75
CALLA MOLECULE
Cd 10
76
EBV RECEPTOR
Cd 21
77
SLE SYMPTOMS
```
Systemic lupus erythematosis
Auto immune disorder
Symptoms:
Malar rash
Discoid rash
Serositis
Oral ulcers
Arthritis
Photosensitivity
Renal pblms
Neurological symptoms
```
78
FINDINGS IN SLE
```
Blood finding::
Anemia
TTP(thrombotic thrombocytic purpura)—blood clots forms in small blood vesels through out body
ANA+
Immunoglobulin +
```
79
ANA +
Anti nuclear antibody test
It means you have autoimmune disase
Antinuclear antibody attacks your own cell
ANA TEST USED IN
systemic lupus erythmatous,rhematic arthritis
Scleroderma,sjogren syndrome
80
ANTI DS dna test
Anti double stranded dna test help to diagnose erythematous lupus in a person who is positive on ANA TEST+
81
ANTI HISTONE AB SEEN IN
Seen in sle
Drug induced lupus(most specific)
Juvenile reumatoid arthritis
Epsten bar virus
82
ANTI RO AB
Seen in patients pf sle
And sjogren syndrome
SEEN IN NEONATAL SLE
83
SHOGREN SYNDROME
Immune system disorder charrectrised by dry eyes and dry mouth
Immune system attack its own healthy cells that produce saliva and tears
Symptoms::dry skin
Dry mouth
Dry eyes
Dry vagina
Long term disease: risk of marginal zone lymphoma
84
CEVIMILINE
Drug given for dry mouth in sjogren syndrome
85
SCLERODERMA
Auto immune disease
It effects your skin , connective tissue, and internal organs
It happens when your immune system causes your body to make too much protein collagen,
As a result your skin become too thick and tight
Rynauds is early symptom
Symptomss::
C:calcinosis
R:reynauds phenomenon
E:easophageal dysmotility
S: sclerodectaly
T:telungiectasia
86
AB SEEN IN LOCALIZED OR LIMITED SCLERODERMA
Anti centromere
87
AB SEEN IN GENERALIZED OR SYSTEMIC SCLERODERMA
Anti topo isomerase
88
DERMATOMYOSITIS
An inflammatory disease marked by muscle weaknes+skin rash
Proximal muscle weakness seen
Cpk mm increases(creatinine phospho kinase)increases in blood
EMG DONE(electromyography)
Peri fascicular atrophy seen
ANTI JO 1 antibody seen
Treatment steroid
89
DERMATOLOGY FINDING IN DERMATO MYOSITIS
```
V SIGN
SHALL SIGN
GATTORON PAPULES
HELITROPIC RASH
MECHANICS HAND
```
90
POLYMYOSITIS
Inflammatory myopathies involving inflammation of muscles or associated tissues like blood vessel that supply muscles
Proximal muscle weakness
Cpk(creatine phospho kinase) mm increase very high
EMG (electromyography) done
PERI FASCICULAR ATROPHY seen
ANTI JO 1 ab seen
Treatment : steroid
91
REYNAUDS PHENOMENON
Condition in which some areas of body feel numb and cool in certain conditions
Smaller arteries that supply blood to skin constrict extensively in response to cold , decreasing blood supply
Symptoms: pale cyanosed red at nose tip , ear,finger
92
MCTD
Mixed connective tissue disease
Rare auto immune disorder charrectrised by features seen in three different connective tissue disorder :systemic lupus erythmatous, scleroderma,polymyositis .
ANTI RNP antibody seen
93
CPK TEST
Creatinine phosphokinase test measure cpk in blood
| If you have higher cpk in blood ,it means you have muscle injury or disease such as muscular dystrophy
94
ELECTROMYOGRAPHY
Diagnostic procedure to evaluate health of muscle health and nerves cells that controll them ,they transmit electrical signals that causes muscle to relax and contract
95
SELECTIVE IGA DEFECIENCY
Condition in which you don’t have enough immunoglobulin A— a protein that fights of infection
M/C primary immuno defeciency
Ig A protects against infection of mucous membranes lining mouth ,airways,and digestive tract
Rhino pulmonary infections seen
96
HYPER IG E SYNDROME (job syndrome)
Rare primary immuno defeciency syndrome charrectrised by eczema ,reccurent staphylococcus skin abscess,recurent lung infection ,easinophilia,and high serum level of ige
Caused by mutation in STAT3 DOCK8
97
TREATMENT OF HYPER IG E SYNDROME(job syndrome)
Lifelong prophylactic anti staphylococcal antibiotic (trimethorim,sulfamethoxazole)
Dermitis treated with skin hydration , emollient cream,antihistamine
If infections suapected antibiotics
98
NORMAL VALUE OF IGM
In males:65-132
| Females:96-114
99
BRUTON AGAMMAGLOBULINEMIA
Inherited primary immunodeficiency
Charrectrised by absence of mature B cell leading severe antibody defeciency leading to infection
Caused by mutation in genes producing b cells
Diagnosis: after 6 months IGG levels less than 100 mg/dl are indicative
There is a failure of pre b lymphocytes to mature into b lymphocytes
Igg is also absent
So no opsomisation
100
CVID
Common variable immunodeficiency
Low levels of ig classes
Lack of either b or t lymphocytes that are capable of producing antibody
Usually b cell maturation defective
101
SCID
Severe combined immuno defeciency
Both B and T cell maturation defect
Most severe immuno defeciency disease
102
WISKOT ALDRICH SYNDROME
Immune defeciency disease charrectrised by abnormal immune system function ,eczema, and reduced ability to form blood clot
They may have micro thrombocytopenia:—decrease in number and size of blood cells involved in clotting (platellets)
This abnormality of platellet present in birth may lead to easy bruising , bloody diarhea,
Micro thrombocytopenia may lead to small areas of bleeding just under the areas of skin resulting in purplish spots called purpura or rashes made up of red spots called petechia
>are at greater risk of developing autoimmune disorders
103
GENE MUTATION IN WISKOT ALDRICH SYNDROME
WAS GENE
104
ATAXIA TELANGIECTASIA
Immune disorder charrectrised by cerebrallar degeneration ,telengiectasia,immunodeficiency,risk of cancer,radiation sensitivity,
Symptoms::ataxia,(decreased cordination of movement)
Decreasing mental development
Delayed walking
Discoloration of skin areas exposed to sunlight
105
CHEDIAK HIGASHI SYNDROME
Inherited immune disorder charrectrised by reduced pigment in eyes and skin(oculocutaneous albinism)
Immunodeficiency
Tendency to bruise and bleed easily
Symptoms:hair will be blond or brown
Photosensitive (reduced pigment in eyes)
Nystagmus(rapid ,involantary,eye movement)
Wbc s shows abnormal granules that are enlarged(these granules effect function of wbc against infection)
Has low level of wbc
Neurological symptoms include
Ataxia
Peripheral neuropathy(loss of sensation in arms and legs)
106
CHEDIAK HIGASHI SYNDROME GENE MUTATION
LYST GENE
107
AMYLOIDOSIS
Amyloidisis occurs when an abnormall protein AMYLOID build up in your organs and interfere in there normal function
Symptoms::
AMYLOID CAN DEPOSIT IN
Tongue:macroglasia
Abdominal fat pad
Joint:carpal tunnel syndrome,cubital tunnel syndrome
Skin: pinch purpura(macules in periorbital region)
Spleen:sago spleen(amyloid deposited in malphigian corpuscles of spleen)
Lordacerous spleen
HEART::—-rcm
MI
Arythmias
Cardiomegally
KIDNEY::—ckd
108
PRIMARY AMYLOIDISIS
Also known as AL AMYLOIDISIS (immunoglobulin light chain amyloidisis)
Seen in multiple myloma
Monoclonal gamopathy
109
SECONDARY AMYLOIDISIS
Also knowing as AA AMYLOIDISIS
| Usually triggered by inflammatory disease like rheumatic arthritis, tuberculosis
110
ATTR AMYLOIDISIS
Is related to abnormal production and build up of a type of amyloid called transthyretin(ttr)
Your body requires norma amounts of TTR,primarily made by liver ,when it enters the blood TTR helps transport thyroid hormone and vitamin A through out body
111
MEDULLARY CARCINOMA OF THYROID AND CALCITONIN
Medullary cancer arises from C cells in thyroid
Calcitonin is produced by para follicular cells (C cells) of thyroid gland
Calcitonin levels are increased in patients of medullary thyroid cancer
Calcitonin has minor effect on blood calcium level
CaR(calcium sensing receptor) elevated
112
AMYLOID BETA (A beta) SEEN IN BRAIN IN
Alzhemers disease
113
AMYLOID BETA M(A beta M) SEEN INNU KIDNEY IN
Patients of ckd ,esrd(end stage renal disease)
| Dialysis associated amyloid
114
DIAGNOSIS AND TREATMENT OF AMYLOID
```
Diagnosis::—
Abdominal fat pad biopsy(best)
Rectum
Gingiva(gum biopsy)
use congo red (apple green burifinges under light)
TREATment: no treatment
```
115
CAUSES OF LARGE VESSEL VASCULITIS
Giant cell temporal arteritis
| Takayasu arterities
116
CAUSES OF MEDIUM VESSEL VASCULITIS
Poly arthritis nodosa
Kawasaki disease
Buerger disease
117
CAUSES OF SMALL VESSELS VASCULITIS
Microscopic polyangitis
Churg straus syndrome
Wegeners syndrome
Henoch schonelin purpura
118
ANCA
```
Anti neutrophil cytoplasmic antibodies
Two types
C-anca
Seen in
Wegeners granumatosis
P anca
Seen in
MPA
CSS
```
