CDE Detailed Report

Disease: Neuromuscular Diseases
Subdomain Name: Laboratory Tests and Biospecimens/Biomarkers
CRF: Muscle Biopsy and Autopsy Tissue

Displaying 51 - 68 of 68
CDE ID CDE Name Variable Name Definition Short Description Question Text Permissible Values Description Data Type Disease Specific Instructions Disease Specific Reference Population Classification (e.g., Core) Version Number Version Date CRF Name (CRF Module / Guidance) Subdomain Name Domain Name Size Input Restrictions Min Value Max Value Measurement Type External Id Loinc External Id Snomed External Id caDSR External Id CDISC
C12520 Specimen type 1 fiber muscle biopsy percent result number SpecTyp1FibMuscBpPctResltNum Result for type 1 fiber muscle biopsy percent Result for type 1 fiber muscle biopsy percent Numeric Values

Only record Type 1 fiber percentage if Type 1 predominance is completed

No references available Adult Supplemental 3.00 2013-07-25 08:54:08.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

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C12247 Biopsy and Autopsy tissue collection method type BpApTissCollMethdTyp The type of method used for collection of the tissue specimen The type of method used for collection of the tissue specimen Biopsy method Punch biopsy;Blister biopsy;Open biopsy;Open;Needle Punch biopsy;Blister biopsy;Open biopsy;Open;Needle Alphanumeric

No instructions available

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C17899 Preservation technique not used indicator PreservTechNotUseInd Indicates preservation technique used is not known Indicates preservation technique used is not known Freezing or Fixation Used? Yes;No:Unknown Yes;No:Unknown Alphanumeric No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12259 Biopsy and autopsy inflammation type BpApInflamTyp Perivascular inflammation is focused around blood vessels, whereas diffuse inflammation also spreads across the muscle tissue. Inflammatory cells identified include lymphocytes, neutrophils, macrophages, and eosinophils. At times, microorganisms can be identified and should be mentioned Perivascular inflammation is focused around blood vessels, whereas diffuse inflammation also spreads across the muscle tissue. Inflammatory cells identified include lymphocytes, neutrophils, macrophages, and eosinophils. At times, microorganisms can be identified and should be mentione Specify Perivascular;Diffuse;Associated with myofiber damage;Inflammatory cells identified;Microorganisms identified Perivascular;Diffuse;Associated with myofiber damage;Inflammatory cells identified;Microorganisms identified Alphanumeric

Only answered if "Inflammation" is answered for "Which of the following diagnostic abnormalities were noted on histochemical stains?"

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12233 Preservation technique used type PresrvtnTechnqUseTyp Type of preservation technique used to preserve the specimen Type of preservation technique used to preserve the specimen Freezing or Fixation Used? Frozen;Formalin-fixed;Paraffin-embedded;Epon-embedded Frozen;Formalin-fixed;Paraffin-embedded;Epon-embedded Alphanumeric

No instructions available

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12270 Biopsy and autopsy antibodies used name BpApAntibodUseName List the names of antibodies used List the names of antibodies used Name of antibodies used Alphanumeric

If names of antibodies used is not known, select Not known.

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

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C12521 Specimen type 2 fiber muscle biopsy percent result number SpecTyp2FibMuscBiopPctResltNum Result for type 2 fiber muscle biopsy percent Result for type 2 fiber muscle biopsy percent Numeric Values

Only record Type 2 fiber percentage if Type 2 predominance is completed

No references available Adult Supplemental 3.00 2013-07-25 08:54:08.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

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C12248 Pathologist name PathologistName Name of pathologist who diagnosed the case Name of pathologist who diagnosed the case Name of pathologist who diagnosed the case Alphanumeric

No instructions available

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

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C17900 Age presentation year value AgePresentYearVal Age (in years) of participant/subject at presentation Age (in years) of participant/subject at presentation Age at presentation Numeric Values No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

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C12260 Biopsy and autopsy perivascular inflammation type BpApPerivasInflamTyp Evidence of vascular damage includes damaged vessels in association with perivascular inflammation and the presence of fibrin thrombi located within vascular spaces Evidence of vascular damage includes damaged vessels in association with perivascular inflammation and the presence of fibrin thrombi located within vascular space Perivascular, Specify Evidence of vascular damage;Thrombi identified in blood vessels Evidence of vascular damage;Thrombi identified in blood vessels Alphanumeric

Only answered if "Perivascular" is answered for "Inflammation"

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12234 Preservation technique used amount value PresrvtnTechnqUseAmntVal Value of the amount of preservation solution or material used to preserve the specimen Value of the amount of preservation solution or material used to preserve the specimen Amount Alphanumeric

Answer for the freezing or fixation technique used. Answer should be recorded in milligrams (mg). If amount used is not known, select Not known.

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

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milligram
C12271 Western Blot assay performed name WstBlotAssyPerfName Name(s) of the assay performed Name(s) of the assay performed List the Western Blot assays performed and corresponding results Alphanumeric

No instructions available

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

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C12524 Inflammation severity status InflamSeverStat Severity of Inflammation muscle diagnostic abnormalities Severity of Inflammation muscle diagnostic abnormalities Inflammation Mild;Moderate;Severe Mild;Moderate;Severe Alphanumeric

No instructions available

No references available Adult Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12249 Biopsy and Autopsy histochemical stains diagnostic abnormalities present type BpApHschmStnDiagnAbnrmlyPrsTyp The diagnostic abnormalities present on the histochenmical stains for the participant's/subject's tissue The diagnostic abnormalities present on the histochemical stains for the participant's/subject's tissue Which of the following diagnostic abnormalities were noted on histochemical stains? Fatty replacement;Endomysial fibrosis;Myofiber degeneration;Myofiber regeneration;Abnormalities of fiber type;Hypertrophic fibers;Atrophy/Hypotrophy;Myopathy-associated pathological structures;Inflammation;Abnormal storage material Fatty replacement;Endomysial fibrosis;Myofiber degeneration;Myofiber regeneration;Abnormalities of fiber type;Hypertrophic fibers;Atrophy/Hypotrophy;Myopathy-associated pathological structures;Inflammation;Abnormal storage material Alphanumeric

Choose all that apply

No references available Adult;Pediatric Supplemental-Highly Recommended 3.00 2013-07-24 11:38:01.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Multiple Pre-Defined Values Selected

C17901 Elevated creatine kinase Indicator ElevatCreatinKinasInd Indicator of whether participant/subject experienced elevated creatine kinase levels Indicator of whether participant/subject experienced elevated creatine kinase levels Elevated creatine kinase Yes;No;Unknown Yes;No;Unknown Alphanumeric No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

C12261 Biopsy and autopsy inflammatory cell type BpApInflamCellTyp Type of inflammatory cells identified Type of inflammatory cells identifie Inflammatory cells identified Lymphocytes;Neutrophils;Macrophages;Eosinophils Lymphocytes;Neutrophils;Macrophages;Eosinophils Alphanumeric

Only answered if "Inflammatory cells identified" is answered for "Inflammation". Choose all that apply.

No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Multiple Pre-Defined Values Selected

C12235 Histochemical stains used type HistchmclStainUseTyp Type of standard histochemical stains used on the tissue specimen Type of standard histochemical stains used on the tissue specimen Which standard histochemical stains were used?

Changed from Supplemental to S-HR based on NMD Start-Up document on 3/11/2016.
H and E;Congo red;Masson trichrome;Myelin stain, specify;Microorganism stains, specify;Other, specify;anti-PGP 9.5;Gomori trichrome;NADH;SDH/COX;PAS;Oil Red O;ATPase 4.3;ATPase 4.6;ATPase 9.4 H and E;Congo red;Masson trichrome;Myelin stain, specify;Microorganism stains, specify;Other, specify;anti-PGP 9.5;Gomori trichrome;NADH;SDH/COX;PAS;Oil Red O;ATPase 4.3;ATPase 4.6;ATPase 9.4 Alphanumeric

Choose all that apply
Supplemental - Highly Recommended

No references available Adult;Pediatric Supplemental-Highly Recommended 3.00 2013-07-24 11:38:01.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Multiple Pre-Defined Values Selected

C12272 Western Blot result WesternBlotReslt Result of the assay(s) performed Result of the assay(s) performed Result Alphanumeric

Units are dependent on the assay performed

No references available Adult;Pediatric Supplemental 3.00 2013-07-25 08:54:08.2 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

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CSV