CDE Detailed Report

Disease: Congenital Muscular Dystrophy
Subdomain Name: Laboratory Tests and Biospecimens/Biomarkers
CRF: Muscle Biopsies and Autopsy Tissue

Displaying 151 - 166 of 166
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
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 Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

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C12263 Biopsy and autopsy abnormal storage material type BpApAbnmlStrgMatTyp Excesses of material can be detected in some lipid and glycogen storage diseases, which may be evident on Oil Red O and PAS stains, respectively Excesses of material can be detected in some lipid and glycogen storage diseases, which may be evident on Oil Red O and PAS stains, respectivel Abnormal storage material Excessive glycogen;Excessive intracellular lipid Excessive glycogen;Excessive intracellular lipid Alphanumeric

No instructions available

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

Single Pre-Defined Value Selected
C19961 Immunohistochemistry alpha dystroglycan VIA4 status IHCAlpDystroglyStat The status of Alpha dystroglycan (VIA4) in immunohistochemistry The status of Alpha dystroglycan (VIA4) in immunohistochemistry Alpha dystroglycan (VIA4) Absent;Reduced;Normal Absent;Reduced;Normal Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected
C19897 Elevated erythrocyte sedimentation rate value ElevatErythSedimRateVal The elevated erythrocyte sedimentation rate value The elevated erythrocyte sedimentation rate value Patient Value Numeric Values

No instructions available

 No references available Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

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C19993 Immunohistochemistry myotilin aggregate level status IHCMyotilinAggregLvlStat Level of myotilin aggregate Level of myotilin aggregate Myotilin Normal;Increased Normal;Increased Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected
C19929 Biopsy and autopsy moth eaten fibers estimated percentage value BpApMothEatFibEstCt Moth-eaten fibers estimated percentage value Moth-eaten fibers estimated percentage value Moderate (present in:) Numeric Values No references available Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

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 0 100 percent
C12526 Biopsy and autopsy type 1 predominance fiber percentage value BpApTyp1PredomFibPctVal Percentage of Type 1 predominance fiber present Percentage of Type 1 predominance fiber present Percent Type 1 fibers Alphanumeric

Only answered if "Type 1 predominance' fiber is selected

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

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C19972 Immunohistochemistry integrin alpha 7 status IHCIntegrinAlp7Stat The status of Integrin a7 in immunohistochemistry The status of Integrin a7 in immunohistochemistry Integrin a7 Absent;Reduced;Normal Absent;Reduced;Normal Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected
C19908 Atrophy hypotrophy presence status AtropHypoFibPresStat The status as related to presence of atrophy/hypotrophy fibers The status as related to presence of atrophy/hypotrophy fibers Atrophy/Hypotrophy Absent;Present Absent;Present Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies 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 Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected
C19940 Histochemical stain absent text HistochemStainAbsStainText Specify histochemical stain absent staining Specify histochemical stain absent staining Absent staining for a histochemical stain Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

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C19951 Immunohistochemistry dystrophin panel stain type IHCDysPanImmunohistochemTyp Type of dystrophin panel used Type of dystrophin panel used Dystrophin panel, specify Dystrophin rod domain (DYS1_;Dystrophin N terminus of rod domain (DYS3);Dystrophin C terminus (DYS2);Dystrophin (BMD hotspot);Spectrin;Utrophin Dystrophin rod domain (DYS1_;Dystrophin N terminus of rod domain (DYS3);Dystrophin C terminus (DYS2);Dystrophin (BMD hotspot);Spectrin;Utrophin Alphanumeric Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected
C18828 Histochemical stains used other text HistchmclStainUseOTH The free-text field related to 'Histochemical stains used type' specifying other text. Type of standard histochemical stains used on the tissue specimen The free-text field related to 'Histochemical stains used type' specifying other text. Type of standard histochemical stains used on the tissue specimen Other, specify Alphanumeric

Choose all that apply

 No references available Adult;Pediatric Supplemental 3.00 2013-07-24 11:38:01.2 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 4000

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C19983 Immunohistochemistry CD138 presence status IHCCD138PresStat The status of the presnce of CD138 in immunohistochemistry The status of the presnce of CD138 in immunohistochemistry CD138 Absent;Present Absent;Present Alphanumeric

If present; specify the percent of lymphocytes

 Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected
C19919 Biopsy and autopsy strongly succinate dehydrogenase reactive blood vessels estimated percentage value BpApStrSDHReactBldVessEstCt Strongly succinate dehydrogenase (SDH)-reactive blood vessels (SSV's) estimated percentage value Strongly succinate dehydrogenase (SDH)-reactive blood vessels (SSV's) estimated percentage value Moderate (present in:) Numeric Values No references available Adult;Pediatric Supplemental 1.00 2015-02-09 00:00:00.0 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Free-Form Entry

 0 100 percent
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 3.00 2013-07-24 11:38:01.2 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Multiple Pre-Defined Values Selected
CSV