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Genetic Disorders -- Diseases of the Immune System

pathology mcqs questions

Questions starts with :-

Which of the following procedures is used as a routine technique for k...

Subject :-

pathology

Correct answer :- *** Hidden ***

Explanation :-

tion of each individual chromosome, on the basis of a distinctive and reliable pattern of alternate light and dark bands along the length of the chromosome. Since giemsa stain

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2013-04-08 20:20:18
following procedures used routine technique for karyotyping using light microscopy bandingG- banding bandingV- staining Giemsa stain ismost commonly used staining method that allow identificationeach individual chromosome onbasisa distinctive and reliable patternalternate light and dark bands along length ofchromosome Since giemsa stainusedprocedure called banding Ref: Robbins Pathologic BasisDisease 6th Edition Pages 165-6
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Subject :-pathology

Topic :- Genetic Disorders -- Diseases of the Immune System


middle aged married lady gives you history repeated abortions for past years You decided chromosome study The conceptus pre-natal karyogram given below does karyotype indicate Klienfelter's syndromeTurner's syndromeDown's syndrome Patau's syndrome karyogram presence one and chromosome indicate that conceptus was male and presence third chromosome 21st pair indicate trisomy Hence fetus was case Downs syndrome Ref: Robbins Pathologic Basis Disease 6th Edition Page 171 .......


Subject :-pathology

Topic :- Genetic Disorders -- Diseases of the Immune System


type Amyloidosis caused mutation transthyretin protein Dialysis associated amyloidosisFamilial Mediterranean feverFamilial amyloidotic polyneuropathy Prion protein associated amyloidosisFamilial amyloidotic polyneuropathy associated with mutation plasma transthyretin Transthyretin 127 aminoacid residue single chain polypeptide that made liver binds transports thyroxine retinol FAP autosomal dominant disease characterized distal proximal symmetric polyneuropathy addition severe autonomic neuropathy sensory and motor nerves also affected Clinical features: Symptoms disease begins fourth and fifth decade and characterized autonomic dysfunction polyneuropathy occasional cardiomyopathy and renal failure until death Ref: Principles Surgical Practice Kingsnorth Page 286.......


All the following are associated with the development fibrinoid necrosis except:

Subject :-pathology

Topic :- Genetic Disorders -- Diseases of the Immune System


All following associated with development fibrinoid necrosis except: Aschoff noduleMalignant hypertensionPolyarteritis nodosaDiabetic glomerulosclerosisFibrinoid necrosis not seen diabetic glomerulosclerosis Diabetic glomeruloscleros characterized increased amount connective tissue mesangium arise consequence glucose and insulin derangements diabetes diabetes vessels shows hyalinizing arteriosclerosis Histologically identified mesangial nodules connective tissue surrounded glomerular capillary loops The nodular changes called Kimmelsteil Wilson disease specific for diabetic nephropathy Ref: Hardcore Pathology Carter Wahl Page 85; Pathology Secrets E-Book Ivan Damjanov 3rd Edition; Encyclopedia Heart Diseases Gabriel Khan Page 101; Diagnostic Criteria Autoimmune Diseases Yehuda Shoenfeld Page 89; Rubin's Pathology: Clinicopathologic Foundations Medicine Raphael Rubin 6th Edition Page .......


Which the following condition associated with Aschoff nodules? Rheumatic cardit

Subject :-pathology

Topic :- Genetic Disorders -- Diseases of the Immune System


following condition associated with Aschoff nodules Rheumatic carditis Libman-Sacks endocarditis Subacute bacterial endocarditis Non-bacterial Thrombotic endocarditis Aschoff nodule pathognomonic histological lesion seen rheumatic fever not seen first 3-4 weeks acute rheumatic fever Mature aschoff nodules 1mm 1cm size consist perivascular infiltrate aschoff’s cells and antischkow cells arranged rosette around avascular center fibrinoid Other cells found aschoff body polymorphonuclear cells and lymphocytes Ashcoff cell has 1-5 nuclei and basophilic cytoplasm Antischkow cell uninucleate cell with eosinophilic cytoplasm normally present heart but due active inflammation acute rheumatic fever increase cytoplasm leads owl eyed appearance cell Ref: Handbook Rheumatic Fever Alok Ranjan Page Rubin's Pathology: Clinicopathologic Foundations Medicine Raphael Rubi 6th Edition Page 514 Internal Medicine: Illustrated Radiological Guide Jarrah Ali Al-Tubaikh Page 176 .......


Familial Mediterranean fever, the gene encoding for which the following protein unde

Subject :-pathology

Topic :- Genetic Disorders -- Diseases of the Immune System


Familial Mediterranean fever gene encoding for following protein undergoes mutation Pyrin PerforinTransthyretinImmunoglobulin light chain Familial Mediterranean fever gene coding for pyrin protein mutated Five missence mutations identified These mutations give rise amino acid substitutions carboxyterminal part pyrin protein Pyrin protein expressed solely neutrophils found large numbers inflammatory sites during FMF attacks Ref: Cloning: Chronology Abstracts and Guide Books Stephen Fairbanks Page 94; Physical Basis Biochemistry: Foundations Molecular Biophysics Peter Bergethon Page 545; Principles Surgical Practice Kingsnorth Page 286 .......


Which the following represents the indication for In-situ DNA nick end labeling techniq

Subject :-pathology

Topic :- Genetic Disorders -- Diseases of the Immune System


following represents indication for In-situ DNA nick end labeling technique detect fraction cells apoptotic pathways detect fraction cells phaseTo detect p53 gene productTo detect bcr/abl gene in-situ method for detecting areas DNA nicked during apoptosis In-situ methods for labeling apoptotic cells used demonstrate the DNA fragments produced endonucleolytic cleavage directly within tissue sections in-situ methods makes use enzymes that label 3’-OH ends that results from endonucleolytic cleavage terminal deoxynucleotidal transferase mediated UTP nick end labeling (TUNEL) reaction employs terminal deoxynucleotidal transferase TdT Ref: Molecular Genetic Testing Surgical Pathology John Pfeifer Page 116; Journal Histochemistry and Cytochemistry Volume 47(5) Pages 711- 717.......


What referred differential expression same gene depending parent origin?

Subject :-pathology

Topic :- Genetic Disorders -- Diseases of the Immune System


referred differential expression same gene depending parent origin Genomic imprinting MosaicismAnticipationNonpenetranceGenomic imprinting refers variation expression gene group genes that depend upon whether those genes came from male female parent This term refers fact that process gametogenesis one sex apparently marks some genetic material being different from its counterpart supplied opposite sex Paternal imprinting refers transcriptional silencing paternal allele Example: Prader-Willi syndrome Maternal imprinting refers transcriptional silencing maternal allele Example: Angelman syndrome Ref: How Human Genome Works Edwin McConkey Page 49; Concepts Genetics (With Cd) Klug 7th Edition Page 127; Harrisson’s Principles Internal Medicine 18th Edition Chapter .......


What the percentage chance having unaffected baby, when both parents have achondr

Subject :-pathology

Topic :- Genetic Disorders -- Diseases of the Immune System


percentage chance having unaffected baby both parents have achondroplasia 0%25% 50%100%Achondroplasia autosomally dominant inherited disorder question both parents having autosomal dominant disorder For child unaffected should inherit two normal alleles According autosomal dominant inheritance pattern the chances having unaffected baby 25% Ref: Robbins Pathologic Basis Disease 6th Edition Page 1220 .......


Which the following act tumour suppressor gene mycfosRasRb

Subject :-pathology

Topic :- Genetic Disorders -- Diseases of the Immune System


following act tumour suppressor gene mycfosRasRb Tumor suppressor genes regulate cell growth gene was first tumor suppressor gene discovered active state gene serve brake advancement cells from phase cell cycle gene located chromosome mutated results retinoblastoma Ref: Robbins Pathologic Basis Disease 6th Edition Page 287 .......


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