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
C00035 Gender type GenderTyp Self-reported gender of the participant/subject Self-reported gender of the participant/subjec Gender of Patient Alphanumeric

Choose one. Response is obtained by report of the participant/subject or caretaker.

 The NIH Guidelines on Inclusion of Women and Minorities as Subjects in Clinical Research: The Office of Management and Budget Directive No. 15 (http://grants.nih.gov/grants/funding/women_min/guidelines_update.htm) Adult;Pediatric Core 3.00 2013-08-28 16:08:00.453 Muscle Biopsies and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Single Pre-Defined Value Selected

 2200604
C12238 Biopsy and autopsy epon embedded tissue abnormalities location type BpApEponEmbedTissAbnrmlLocTyp Type of abnormality observed microscopically in epon-embedded tissue specimen Type of abnormality observed microscopically in epon-embedded tissue specimen Abnormalities noted in Nuclei;Contractile apparatus;Sarcotubular organization;Mitochondria, specify;Basal lamina;Satellite cells;Intramuscular nerve twigs Nuclei;Contractile apparatus;Sarcotubular organization;Mitochondria, specify (choose all that apply);Basal lamina;Satellite cells;Intramuscular nerve twigs 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

Multiple Pre-Defined Values Selected
C19943 Biopsy and autopsy intramuscular nerve branche status BpApIntramusNervBranchStat The status of the presence of intramuscular nerve branches The status of the presence of intramuscular nerve branches Intramuscular nerve branches 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
C12529 Biopsy and autopsy ragged red fibers estimated count BpApRggdRdFibEstCt Ragged red fibers estimated number Ragged red fibers estimated number Moderate (present in:) Numeric Values

Only answered if "Ragged red fibers" is answered for "Myopathy-associated pathological structures"

 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

Free-Form Entry
C19975 Immunohistochemistry CD3 presence status IHCCD3PresStat The status of the presence of CD3 in immunohistochemistry The status of the presence of CD3 in immunohistochemistry CD3 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
C19911 Biopsy and autopsy trichome red inclusions estimated percentage count BpApRedInclusTrichEstCt Red inclusions on trichome estimated percentage value Red inclusions on trichome 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
C12253 Biopsy and autopsy atrophy or hyportrophy fiber shape type BpApAtrphyHyptrphyFibShpTyp Atrophic/ hypertrophic fiber shape Atrophic/ hypertrophic fiber shape Atrophic/hypotrophic fiber shape Angulated;Round Angulated;Round Alphanumeric

Only answered if "Atrophic/Hypertrophic fiber shape, specify" is answered for "Atrophy/Hypotrophy"

 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
C19954 Immunohistochemistry dystrophin N terminus status IHCDysNTerminStat The status of dystrophin N terminus (DYS3) in immunohistochemistry The status of dystrophin N terminus (DYS3) in immunohistochemistry Dystrophin N terminus (DYS3) Absent;Reduced;Cytoplasmic;Normal Absent;Reduced;Cytoplasmic;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
C19890 Symptom presentation weakness distribution other text SymptmPresentWeakDisTypOTH The free-text field to describe other symptoms participant/ subject shows at presentation The free-text field to describe other symptoms participant/ subject shows at presentation Other 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
C19986 Immunohistochemistry CD45 percentage value IHCCD45PercentVal Percent value of CD45 Percent value of CD45 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
C19922 Biopsy and autopsy minicores status BpApMinicoreStat Minicores status in biopsy Minicores status in biopsy Minicores 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
C19933 Biopsy and autopsy ring fibers estimated percentage value BpApRingFibEstCt Ring fibers estimated percentage value Ring 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
C12517 Fatty replacement severity status FttyReplcmntSeverStat Severity of the Fatty replacement muscle diagnostic abnormalities Severity of the fatty replacement muscle diagnostic abnormalities Fatty infiltration 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
C19965 Immunohistochemistry beta sarcoglycan status IHCBetaSarcoglyStat The status of Beta sarcoglycan in immunohistochemistry The status of Beta sarcoglycan in immunohistochemistry Beta sarcoglycan 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
C19901 Imaging electromyography findings status ImgEMGFindStatus Status of the electromyography (EMG) findings of patient Status of the electromyography (EMG) findings of patient EMG findings Not known;Myopathic;Neuropathic Not known;Myopathic;Neuropathic 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
C12226 Specimen source type SpecmnSourcTyp Type of specimen collection source Type of specimen collection source Is this a biopsy or autopsy specimen? Biopsy;Autopsy Biopsy;Autopsy Alphanumeric

No instructions available

 No references available Adult;Pediatric Supplemental-Highly Recommended 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
CSV