CDE Detailed Report
Disease: Congenital Muscular Dystrophy
Subdomain Name: Laboratory Tests and Biospecimens%2FBiomarkers
CRF: Muscle Biopsies and Autopsy Tissue
Displaying 151 - 166 of 166
Subdomain Name: Laboratory Tests and Biospecimens%2FBiomarkers
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 |
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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%2FBiomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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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%2FBiomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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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%2FBiomarkers | Assessments and Examinations |
Free-Form Entry |
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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%2FBiomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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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%2FBiomarkers | Assessments and Examinations |
Free-Form Entry |
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%2FBiomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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C20325 | Biopsy and autopsy inflammation description type | BpApInflamDescTyp | The descriptions as related to 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 | The descriptions as related to 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 | Inflammation, specify | Distribution;Associated with myofiber damage;Associated with non-necrotic myofiber;Granulomas;Inflammatory cells identified | Distribution;Associated with myofiber damage;Associated with non-necrotic myofiber;Granulomas;Inflammatory cells identified | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2015-02-17 11:38:01.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens%2FBiomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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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%2FBiomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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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%2FBiomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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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%2FBiomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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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%2FBiomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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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%2FBiomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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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%2FBiomarkers | Assessments and Examinations | 4000 |
Free-Form Entry |
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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%2FBiomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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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%2FBiomarkers | 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%2FBiomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
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