CDE Detailed Report
Disease: Congenital Muscular Dystrophy
Subdomain Name: Laboratory Tests and Biospecimens/Biomarkers
CRF: Muscle Biopsies and Autopsy Tissue
Displaying 1 - 50 of 166
Subdomain Name: Laboratory Tests and Biospecimens/Biomarkers
CRF: Muscle Biopsies and Autopsy Tissue
Displaying 1 - 50 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 / Guideline) | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C19970 | Immunohistochemistry collagen VI status | IHCCollagenVIStat | The status of collagen VI in immunohistochemistry | The status of collagen VI in immunohistochemistry | Collagen VI | 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 |
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| C19906 | Basophilic fibers presence status | BasoFibPresStat | Presence of basophilic fibers | Presence of basophilic fibers | Basophilic fibers, large nuclei | 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 |
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| C12231 | Laboratory name | LabName | Name of laboratory where assessment was performed | Name of laboratory where assessment was performed | Name of laboratory where pathology was performed | Alphanumeric |
Record the laboratory name where pathology was performed |
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 |
Free-Form Entry |
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| C19938 | Blood vessel deposits amyloid suggestive status | BldVessDeposSuggAmyStat | The status of blood vessel deposits suggestive of amyloid | The status of blood vessel deposits suggestive of amyloid | Blood vessel deposits suggestive of amyloid | 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 |
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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 Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C17904 | Biopsy and autopsy pathological inclusions text | BpApPathlgyInclTxt | Text describing pathological inclusions (if any) | Indicator of pathological inclusions (if any) | Describe any pathological inclusions noted | 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 |
Free-Form Entry |
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| C19981 | Immunohistochemistry CD20 presence status | IHCCD20PresStat | The status of the presence of CD20 in immunohistochemistry | The status of the presence of CD20 in immunohistochemistry | CD20 | 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 |
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| C19917 | Biopsy and autopsy cytochrome oxidate negative fibers status | BpApCOXNegFibStat | Cytochrome oxidate (COX) negative fibers status in biopsy | Cytochrome oxidate (COX) negative fibers status in biopsy | COX-negative fibers | Absent;Sparse;Moderate | Absent;Sparse;Moderate | 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 |
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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 Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19949 | Biopsy and autopsy additional observation text | BpApAdditionObservText | The free-text field for recording additional observations about the biopsy or autopsy being performed | The free-text field for recording additional observations about the biopsy or autopsy being performe | Additional observations | 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 | 4000 |
Free-Form Entry |
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| C19896 | Elevated erythrocyte sedimentation rate indicator | ElevatErythSedimRateInd | Indicator of whether participant/subject experienced elevated erythrocyte sedimentation rate | Indicator of whether participant/subject experienced elevated erythrocyte sedimentation rate | Elevated erythrocyte sedimentation rate (ESR) | No;Yes;Unknown | No;Yes;Unknown | Alphanumeric |
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 |
Single Pre-Defined Value Selected |
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| C19992 | Immunohistochemistry desmin aggregate level status | IHCDesminAggregLvlStat | Level of desmin aggregate | Level of desmin aggregate | Desmin | 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 |
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| C19928 | Biopsy and autopsy moth eaten fibers status | BpApMothEatFibStat | Moth-eaten fibers status in biopsy/autopsy | Moth-eaten fibers status in biopsy/autopsy | Moth-eaten fibers | Absent;Sparse | Absent;Sparse | 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 |
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| C12262 | Biopsy and autopsy microorganisms name | BpApMicroorgName | Name of microorganisms identified in biopsy or autopsy specimen | Name of microorganisms identified in biopsy or autopsy specimen | Microorganisms identified, specify which | Alphanumeric |
Only answered if "Microorganisms identified" is answered for "Inflammation" |
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 |
Free-Form Entry |
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| C19960 | Immunohistochemistry laminin alpha2 merosin 300 status | IHCLaminAlp2Meros300Stat | The status of Laminin a2/Merosin (300 kDa) in immunohistochemistry | The status of Laminin a2/Merosin (300 kDa) in immunohistochemistry | Laminin a2/Merosin (300 kDa) | 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 |
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| C19971 | Immunohistochemistry caveolin 3 status | IHCCaveolin3Stat | The status of caveolin 3 in immunohistochemistry | The status of caveolin 3 in immunohistochemistry | Caveolin 3 | 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 |
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| C19907 | Hypertrophic fibers presence status | HyperFibPresStat | Presence of hypertrophic fiber | Presence of hypertrophic fiber | Hypertrophic fibers | 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 |
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| C12232 | Laboratory director name | LabDirectorName | Name of laboratory director where assessment was performed | Name of laboratory director where assessment was performed | Name of laboratory director | 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 |
Free-Form Entry |
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| C19939 | Biopsy and autopsy fiber abnormality status | BpApAbnrmlyFibStat | Presence or absence of fiber abnormalities on a muscle biopsy | Presence or absence of fiber abnormalities on a muscle biopsy | Abnormalities of fiber type | Absent;Present | Absent;Present | Alphanumeric |
Only answered if "Abnormalities of fiber type" is answered for "Which of the following diagnostic abnormalities were noted on histochemical stains?" |
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 |
Single Pre-Defined Value Selected |
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| C12525 | Biopsy and autopsy fiber abnormality type | BpApAbnrmlyFibTyp | Fiber type abnormalities on a muscle biopsy | Fiber type abnormalities on a muscle biopsy | Specify | Type 1 predominance;Type 2 predominance;Fiber type grouping | Type 1 predominance;Type 2 predominance;Fiber type grouping | Alphanumeric |
Only answered if "Abnormalities of fiber type" 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 Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C17905 | Biopsy and autopsy abnormal storage material text | BpApAbnrmlStrgMatTxt | Text describing biopsy or autopsy material that has been stored abnormally | Text describing biopsy or autopsy material that has been stored abnormall | Describe any abnormal storage material identified | 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 |
Free-Form Entry |
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| C19982 | Immunohistochemistry CD20 percentage value | IHCCD20PercentVal | Percent value of CD20 | Percent value of CD20 | Present in | Numeric Values | 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 | |||||||||
| C19918 | Biopsy and autopsy strongly succinate dehydrogenase reactive blood vessels status | BpApStrSDHReactBldVessStat | Strongly-succinate dehydrogenase (SDH) blood vessels status in biopsy | Strongly-succinate dehydrogenase (SDH) blood vessels status in biopsy | Strongly-SDH reactive blood vessels (SSVs) | Absent;Sparse | Absent;Sparse | 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 |
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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 Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| C19950 | Immunohistochemistry myosin type | IHCMyosImmunohistochemTyp | Type of myosin immunochemistry used | Type of myosin immunochemistry used | Myosin immunohistochemistry | Fast myosin;Slow myosin;Embryonic myosin;Fetal myosin | Fast myosin;Slow myosin;Embryonic myosin;Fetal myosin | 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 |
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| C20322 | Symptom neuromuscular presentation type | SymptmNeurmPresentTyp | Symptoms of neuromuscular disease in participant/ subject at presentation | Symptoms of neuromuscular disease in participant/ subject at presentation | Symptoms at presentation | Weakness;Central nervous system disease;Other muscle symptoms;Failure to Thrive;Respiratory difficulties;Skin changes;Eye symptoms;Joint laxity;Clinical features of cardiac involvement/known cardiac disease;Exposure to toxins, supplements, or drugs;Other | Weakness;Central nervous system disease;Other muscle symptoms;Failure to Thrive;Respiratory difficulties;Skin changes;Eye symptoms;Joint laxity;Clinical features of cardiac involvement/known cardiac disease;Exposure to toxins, supplements, or drugs;Other | Alphanumeric |
Check all that apply. |
Adult;Pediatric | Supplemental | 1.00 | 2015-02-18 00:00:00.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values 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/Biomarkers | 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/Biomarkers | 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/Biomarkers | Assessments and Examinations |
Free-Form Entry |
0 | 100 | percent | ||||||||
| 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 |
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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/Biomarkers | 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/Biomarkers | 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/Biomarkers | 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/Biomarkers | 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/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
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| 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 |
Free-Form Entry |
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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/Biomarkers | 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/Biomarkers | 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/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 |
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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 |
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| C20324 | Biopsy and autopsy nemaline rod status | BpApNemaRodStat | The status as related to rod-shaped structures, visible at high magnification, which are most visible on Gomori trichrome stain and on EM preparations | The status as related to rod-shaped structures, visible at high magnification, which are most visible on Gomori trichrome stain and on EM preparations | Nemaline rods/bodies | Absent;Sparse;Moderate | Absent;Sparse;Moderate | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2015-02-17 11:38:01.0 | Muscle Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
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| C19898 | Elevated C reactive protein indicator | ElevatCReactProtInd | Indicator of whether participant/subject experienced elevated C reactive protein levels | Indicator of whether participant/subject experienced elevated C reactive protein level | Elevated C-reactive protein (CRP) | No;Yes;Unknown | No;Yes;Unknown | Alphanumeric |
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 |
Single Pre-Defined Value Selected |
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| C19994 | Immunohistochemistry alphaB crystallin aggregate level status | IHCAlpBCrystallinAggregLvlStat | Level of aB crystallin aggregate | Level of aB crystallin aggregate | aB crystallin | 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 |
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| C19930 | Biopsy and autopsy tubular aggregates status | BpApTubAggStat | Tubular aggregates status in biopsy/autopsy | Tubular aggregates status in biopsy/autopsy | Tubular aggreggates | Absent;Sparse;Moderate | Absent;Sparse;Moderate | 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 |
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| C12268 | Immunohistochemical stain used muscle biopsy and autopsy type | ImmhistchmclStnUseMuscBpAp | Which immunohistochemical stains were used on muscle biopsy? | Which immunohistochemical stains were used on muscle biopsy? | Which immunohistochemical stains were used? | Myosin immunohistochemistry;Dystrophin panel;Other stains for limb-girdle or congenital muscular dystrophy;Inflammatory myopathy panel;Protein aggregate myopathy panel | Myosin immunohistochemistry;Dystrophin panel;Other stains for limb-girdle or congenital muscular dystrophy;Inflammatory myopathy panel;Protein aggregate myopathy panel | Alphanumeric |
Choose all that apply. If dystrophin panel, Other stains for limb-girdle or congenital muscular dystrophy, or Inflammatory myopathy panel were answered for "Which immunohistochemical stains were performed?", specify stains used. |
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 |
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| C19962 | Immunohistochemistry alpha dystroglycan IIH status | IHCAlpDystroglyIIHStat | The status of Alpha dystroglycan (IIH) in immunohistochemistry | The status of Alpha dystroglycan (IIH) in immunohistochemistry | Alpha dystroglycan (IIH) | 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 |
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| C19973 | Immunohistochemistry neuronal nitric oxide synthase status | IHCnNOSStat | The status of neuronal nitric oxide synthase in immunohistochemistry | The status of neuronal nitric oxide synthase in immunohistochemistry | nNOS | 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 |
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| C19909 | Biopsy and autopsy nuclear bags clumps status | BpApAutoNucBagsClumpStat | The status as related to presence of nucelar bags/clumps | The status as related to presence of nucelar bags/clumps | Nuclear bags/clumps | 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 |
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| 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 Biopsies and Autopsy Tissue | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations | 255 |
Free-Form Entry |
milligram |
