CDE Detailed Report

Disease: Myotonic Muscular Dystrophy
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
C12229 Tissue specimen size measurement TissSpecmnSizeMeasr Measurement of the size of the tissue specimen collected Measurement of the size of the tissue specimen collected Size of tissue collected Numeric Values

This information may not be available for autopsy tissue.

No references available Adult;Pediatric Core 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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centimeter
C12266 Biopsy and autopsy excessive intracellular lipid severity grade BpApExesIntracellLipSeverGrade Severe lipid storage pathology involves excess Oil Red O+ material that is easily identifiable on light microscopy and is evident on other stains including H and E. Mild lipid storage pathology is difficult to determine at the light microscopic level and may only be evident on Oil Red O stain or on electron microscopy Severe lipid storage pathology involves excess Oil Red O+ material that is easily identifiable on light microscopy and is evident on other stains including H and E. Mild lipid storage pathology is difficult to determine at the light microscopic level and may only be evident on Oil Red O stain or on electron microscop Excessive intracellular lipid Specify severity Mild;Severe Mild;Severe Alphanumeric

Only answered if "Excessive intracellular lipid" is answered for "Abnormal storage material"

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

Single Pre-Defined Value Selected

C12517 Fatty replacement severity status FttyReplcmntSeverStat Severity of the Fatty replacement muscle diagnostic abnormalities Severity of the fatty replacement muscle diagnostic abnormalities Fatty replacement 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

C12242 Biochemical or genetic test result value BiochemGenTestResltVal Results of the biochemical or genetic test performed on the specimen Results of the biochemical or genetic test performed on the specimen Results (including units) Alphanumeric

Only answered if "Yes" is answered for "Was subsequent biochemical or genetic testing performed?" Include units with results, if applicable.

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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C12530 Biopsy autopsy COX-negative fibers estimated count BpApCOXNegFibEstCt COX-negative fibers estimated number COX-negative fibers estimated number COX-negative fibers, Estimated number Alphanumeric

Only answered if "COX-negative fibers" is answered for "Myopathy-associated pathological structures"

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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C12256 Biopsy and autopsy eccentric nuclei estimated fibers percent value BpApEccNucEstFibPrcntVal Estimated percent of fibers in eccentric nuclei Estimated percent of fibers in eccentric nucle Specify estimated percent of fibers (if not quantified above) Numeric Values

Only answered if "Eccentric nuclei" is answered for "Myopathy-associated pathological structures"

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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C12230 Tissue specimen collection date and time TissSpecmnCollctnDateTime Date (and time if applicable and known) when the tissue specimen was collected Date when the tissue specimen was collected Date of tissue collection Date or Date & Time

Record the date/time according to the ISO 8601, the International Standard for the representation of dates and times (http://www.iso.org/iso/home.html). The date/time should be recorded to the level of granularity known (e.g., year, year and month, complete date plus hours and minutes, etc.).

No references available Adult;Pediatric Core 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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C12267 Biopsy and autopsy liver biopsy autopsy results BpApLivBpApReslt The results of the liver biopsy The results of the liver biopsy Liver biopsy performed, Describe results Alphanumeric

Only answered if "Liver biopsy performed" is answered for "Abnormal storage material"

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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C12518 Endomysial fibrosis severity status EndomysFibroSeverStat Severity of the Endomysial fibrosis muscle diagnostic abnormalities Severity of the Endomysial fibrosis muscle diagnostic abnormalities Endomysial fibrosis 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

C12243 Microscopy epon embedded tissue abnormality type MicscpyEponEmbedTissAbnrmlyTyp Type of microscopy employed to view abnormalities in epon-embedded tissue specimen Type of microscopy employed to view abnormalities in epon-embedded tissue specimen Abnormalities seen on Light microscopy (Toluidine blue staining);Electron microscopy;Both - light microscopy and electron microscopy Light microscopy (Toluidine blue staining);Electron microscopy;Both - light microscopy and electron microscopy 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

C12531 Biopsy autopsy excessive glycogen severity result BpApExessGlycoSeverReslt Severe glycogen storage pathology involves excess PAS+ material that is easily identifiable on light microscopy and is evident on other stains including H and E. Mild glycogen storage pathology is difficult to determine at the light microscopic level and may only be evident on PAS stain or electron microscopy Severe glycogen storage pathology involves excess PAS+ material that is easily identifiable on light microscopy and is evident on other stains including H and E. Mild glycogen storage pathology is difficult to determine at the light microscopic level and may only be evident on PAS stain or electron microscop Excessive glycogen Specify severity Mild;Severe Mild;Severe Alphanumeric

Only answered if "Excessive glycogen" is answered for "Abnormal storage material"

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

Single Pre-Defined Value Selected

C12257 Biopsy and autopsy nemaline rod type BpApNemaRodTyp Rod-shaped structures, visible at high magnification, which are most visible on Gomori trichrome stain and on EM preparations Rod-shaped structures, visible at high magnification, which are most visible on Gomori trichrome stain and on EM preparations Nemaline rods, Specify Restricted to one fiber type;Nuclear rods present Restricted to one fiber type;Nuclear rods present Alphanumeric

Only answered if "Nemaline rods" is answered for "Myopathy-associated pathological structures"

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

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 Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations 255

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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 Myosin immunohistochemistry;Dystrophin panel;Other stains for limb-girdle or congenital muscular dystrophy;Inflammatory 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 Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Multiple Pre-Defined Values Selected

C12519 Myofiber degeneration severity status MyofibDegenSeverStat Severity of the Myofiber degeneration muscle diagnostic abnormalities Severity of the Myofiber degeneration muscle diagnostic abnormalities Myofiber degeneration 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

C12245 Symptom presentation type SymptmPresentTyp Symptoms participant/ subject shows at presentation Symptoms participant/ subject shows at presentation Symptoms at presentation Weakness;Hypotonia (floppiness);Muscle pain;Cardiac disease;Central nervous system disease;Unknown Weakness;Hypotonia (floppiness);Muscle pain;Cardiac disease;Central nervous system disease;Unknown Alphanumeric

Check all that apply.

No references available Adult;Pediatric Supplemental 3.10 2017-05-12 12:45:20.0 Muscle Biopsy and Autopsy Tissue Laboratory Tests and Biospecimens/Biomarkers Assessments and Examinations

Multiple Pre-Defined Values Selected

C17898 Laboratory director unknown indicator LabDirectorUnknownInd Indicator of unknown laboratory director Indicator of unknown laboratory director Name of laboratory director 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

C12258 Biopsy and autopsy central cores type BpApCentrlCoreTyp The composition of the central cores The composition of the central core Central cores, Specify Structured;Unstructured Structured;Unstructured Alphanumeric

Only answered if "Central cores" is answered for "Myopathy-associated pathological structures"

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

CSV