PATHOLOGY 1 Flashcards
CHEDIAK HIGASHI SYNDROME
Autosomal recessive genetic disorder,def of lyst gene,occurs in childhood charrectrised by decreased pigment in skin and eyes, decreased immunity
OWLS EYE INCLUSION SEEN IN
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
GIANT CELL
Multiple macrophage fuse to form bigger cell ,indication of severe infection
LANGHANS GIANT CELL
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
TOUTON GIANT CELL
Macrophages that engulf lipid and cholestrol materiel form multinucleated giant cell that have foamy soap buble like cytoplasm
Seen in granulomas of xanthoma
WARTHIN FINKELDEY GIANT CELL
Seen in measles
CHRONIC GRANUMALTOUS DISEASE
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
RED MAN SYNDROME
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
HISTAMINE
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
SEROTONIN
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
SEROTONIN IN INFLAMATION
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
CARCINOID SYNDROME
Caused by excess secretion of serotonin Symptoms include tricuspid valve thickening and stenosis Diarhea Flushing Liver hepatomegally Nausea Vomiting Respiratory cough dyspnea Hemoptysis
ATROPHY
Reduction of size of cell
HYPERTROPHY
Increase in size
HYPOTROPHY or ATROPHY
Decrease in size
HYPERPLASIA
Increase in no
HYPOPLASIA/APLASIA
Decrease in no
METAPLASIA
Change in shape of cell
DYSPLASIA
Abnormal growth in cell not cancer but can become cancer
EXAMPLES OF MITOCHONDRIYAL INHERITANCE
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
MOSAICISM
When entire family tree is normal there is development of mosaic gene in one baby Eg:tuberculosclerosis Osteogenesis imperfecta Achandroplasia Down syndrome
OSTEOGENESIS IMPERFECTA
Brittle bone disease
Mutation in the geneCOL1A1,COL1A2
GENE MUTATION IN ACHANDROPLASIA
Is the bone growth disorder
Dwarfism
Defect in the gene fibroblast growth factor receptor3
CHAMPAGNE GLASS PELVIS SEEN IN
Achandroplasia
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
UNIPARENTAL DISOMY
Occurs when a child recieves two copies of chromosome from one parent and no copies from other parent
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
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 15TRISOMY
Extra chromosome
Mainly occurs at chromosome 13,18,21
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
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)
MOST COMMON LIVE TRISOMY
Down syndrome
PATAU SYNDROME
Trisomy at chromosome 13 Symptoms:: Mental retardation Cardiac defect Renal defect Git defect Polydectaly Cleft lip and cleft palate Microcephaly Microopthalmia
EDWARD SYNDROME
Trisomy at 18 Symptoms:: Mental retardation Cardiac defect Renal defect Git defect Overlapping fingers Prominent occiput ROCKER BOTTOM FEET CLAASICAL FEATURE
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
MONOSOMY
Is when they have one chromosome instead of 2 chromosome
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
MONOSOMY OF 7 CAN LEAD TO
Heamatological malignancy
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
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
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
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
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
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
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
AUTOGRAFT
Transplanting within same body
ISOGRAFT
Transplanting within identical twins
ALLOHRAFT
Between same species(humans to human)
XENOGRAFT
Between defferent species
HLA MATCHING NOT MANDATORY FOR
Cornea
Heart
Liver
HYPER ACUTE GRAFT REJECTION
Within 24-48 hours
Occurs due to preformed AB
Type 2 hypersensitivity
ACUTE GRAFT REJECTION
Occurs within 100 days
Occurs due to cd4 and t cells
Type 2-4 hypersnsitivity
CHRONIC GRAFT REJECTION
Occurs after 100 days
Due to fibrosis
Type 4 hypersnsitivity
M/C INFECTION AFTER TRANSPLANT
Cmv
POST TRANSPLANT LYMPHOMA
Ebv
INNATE IMMUNITY
Since birth Cant be changed Non specific No memory NK CELLS main cell
ACQUIRED OR ADAPTIVE IMMUNITY
Acquired Can be changed Specific Memory B T CELLS
IMMUNE SYSTEM CELLS
MAIN CELLS::—- T CELL(70./.) B cells(20) Nk cells(10) ASSISTING CELLS OR APC:— B CELLS MACROPHAGE DENDRITIC CELLS
MOST POTENT APC
Dendritic cell
T CELLS
Produced in bone marrow
Matured in thymus
Present in para cortex of LN
Perarteriosis of spleen
HELPER T CELL
CD4
CYTOTOXIC T CELL
CD 8
NORMAL CD4 CD8 ratio
CD4/CD8=2/1
IN HIV CD 4-CD8 RATIO
In hiv cd4 decreases
CD4/CD8 ratio is 1/2
SARCOIDOSIS CD4 -CD8 ratio
In sarcoidosis cd4 increases
CD4/CD8=5/1
B CELL
Produced and matured in bone marrow
Present in cortex of lymph node
And white pulp of spleen
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
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
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
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
PAN T CELL
Cd3
HELPER T CELL
Cd 4
CYTOTOXIC T CELL
Cd 8
PAN B CELL
Cd 19
CALLA MOLECULE
Cd 10
EBV RECEPTOR
Cd 21
SLE SYMPTOMS
Systemic lupus erythematosis Auto immune disorder Symptoms: Malar rash Discoid rash Serositis Oral ulcers Arthritis Photosensitivity Renal pblms Neurological symptoms
FINDINGS IN SLE
Blood finding:: Anemia TTP(thrombotic thrombocytic purpura)—blood clots forms in small blood vesels through out body ANA+ Immunoglobulin +
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
ANTI DS dna test
Anti double stranded dna test help to diagnose erythematous lupus in a person who is positive on ANA TEST+
ANTI HISTONE AB SEEN IN
Seen in sle
Drug induced lupus(most specific)
Juvenile reumatoid arthritis
Epsten bar virus
ANTI RO AB
Seen in patients pf sle
And sjogren syndrome
SEEN IN NEONATAL SLE
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
CEVIMILINE
Drug given for dry mouth in sjogren syndrome
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
AB SEEN IN LOCALIZED OR LIMITED SCLERODERMA
Anti centromere
AB SEEN IN GENERALIZED OR SYSTEMIC SCLERODERMA
Anti topo isomerase
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
DERMATOLOGY FINDING IN DERMATO MYOSITIS
V SIGN SHALL SIGN GATTORON PAPULES HELITROPIC RASH MECHANICS HAND
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
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
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
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
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
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
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
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
NORMAL VALUE OF IGM
In males:65-132
Females:96-114
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
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
SCID
Severe combined immuno defeciency
Both B and T cell maturation defect
Most severe immuno defeciency disease
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
GENE MUTATION IN WISKOT ALDRICH SYNDROME
WAS GENE
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
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)
CHEDIAK HIGASHI SYNDROME GENE MUTATION
LYST GENE
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
PRIMARY AMYLOIDISIS
Also known as AL AMYLOIDISIS (immunoglobulin light chain amyloidisis)
Seen in multiple myloma
Monoclonal gamopathy
SECONDARY AMYLOIDISIS
Also knowing as AA AMYLOIDISIS
Usually triggered by inflammatory disease like rheumatic arthritis, tuberculosis
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
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
AMYLOID BETA (A beta) SEEN IN BRAIN IN
Alzhemers disease
AMYLOID BETA M(A beta M) SEEN INNU KIDNEY IN
Patients of ckd ,esrd(end stage renal disease)
Dialysis associated amyloid
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
CAUSES OF LARGE VESSEL VASCULITIS
Giant cell temporal arteritis
Takayasu arterities
CAUSES OF MEDIUM VESSEL VASCULITIS
Poly arthritis nodosa
Kawasaki disease
Buerger disease
CAUSES OF SMALL VESSELS VASCULITIS
Microscopic polyangitis
Churg straus syndrome
Wegeners syndrome
Henoch schonelin purpura
ANCA
Anti neutrophil cytoplasmic antibodies Two types C-anca Seen in Wegeners granumatosis P anca Seen in MPA CSS
