Muscle Biopsy and Autopsy Tissue



For autopsy specimens, a common checklist can be filled out, but the presence of specific findings in specific muscles and nerves should be evaluated and reported.Clinical HistoryAge at presentation: ( ) years; ( ) monthsSymptoms at presentation (check all that apply): FORMCHECKBOX Weakness FORMCHECKBOX Hypotonia FORMCHECKBOX Muscle pain FORMCHECKBOX Cardiac disease FORMCHECKBOX Central nervous system disease FORMCHECKBOX UnknownElevated creatine kinase: FORMCHECKBOX Yes FORMCHECKBOX No FORMCHECKBOX Unknown (please specify) ValueMuscle Biopsy and Autopsy Tissue Information*Is this a biopsy or autopsy specimen? FORMCHECKBOX Biopsy FORMCHECKBOX AutopsyIf this is an autopsy specimen, what is the approximate postmortem interval? (please specify)Tissue collected: (please specify)*Size of tissue collected: ( )x( )x( ) cm*Date of tissue collection: (yyyy-mm-dd)Biopsy method: FORMCHECKBOX Open FORMCHECKBOX NeedleName of laboratory where pathology was performed: (please specify)Name of laboratory director: (please specify) FORMCHECKBOX Unknown Name of pathologist who diagnosed the case: (please specify)*Freezing or Fixation Used? FORMCHECKBOX Frozen: Amount: (please specify) mg FORMCHECKBOX Not known FORMCHECKBOX Formalin-fixed: Amount: (please specify) mg FORMCHECKBOX Not known FORMCHECKBOX Paraffin-embedded: Amount: (please specify) mg FORMCHECKBOX Not known FORMCHECKBOX Epon-embedded: Amount: (please specify) mg FORMCHECKBOX Not knownWas electron microscopy performed? FORMCHECKBOX Yes FORMCHECKBOX NoWas subsequent biochemical or genetic testing performed? FORMCHECKBOX Yes FORMCHECKBOX NoIf Yes, record results in table below:Table SEQ Table \* ARABIC 1 subsequent biochemical or genetic testing dataTest NameResults (including units)Data to be entered by siteData to be entered by siteData to be entered by siteData to be entered by siteData to be entered by siteData to be entered by siteHistological Findings in Muscle Biopsy or Autopsy Specimens*Which standard histochemical stains were used? (choose all that apply) FORMCHECKBOX H and E FORMCHECKBOX Gomori trichrome FORMCHECKBOX NADH FORMCHECKBOX SDH/COX FORMCHECKBOX PAS FORMCHECKBOX Oil Red O FORMCHECKBOX ATPase 4.3 FORMCHECKBOX ATPase 4.6 FORMCHECKBOX ATPase 9.4 FORMCHECKBOX Other, specify: *Which of the following diagnostic abnormalities were noted on histochemical stains (choose all that apply)? FORMCHECKBOX Fatty replacement, mild FORMCHECKBOX Fatty replacement, moderate FORMCHECKBOX Fatty replacement, severe FORMCHECKBOX Endomysial fibrosis, mild FORMCHECKBOX Endomysial fibrosis, moderate FORMCHECKBOX Endomysial fibrosis, severe FORMCHECKBOX Myofiber degeneration, mild FORMCHECKBOX Myofiber degeneration, moderate FORMCHECKBOX Myofiber degeneration, severe FORMCHECKBOX Myofiber regeneration FORMCHECKBOX Abnormalities of fiber type*Specify: FORMCHECKBOX Type 1 predominance, specify % of Type 1 fibers FORMCHECKBOX Type 2 predominance, specify % of Type 2 fibers FORMCHECKBOX Fiber type grouping (of both fiber types) FORMCHECKBOX Hypertrophic fibers FORMCHECKBOX Atrophy/HypotrophySpecify: FORMCHECKBOX All fibers within the specimen FORMCHECKBOX Subsets of fibers, leading to excessive variation in fiber sizeSpecify (choose all that apply): FORMCHECKBOX Single fibers FORMCHECKBOX Groups of fibers FORMCHECKBOX Type 1 fibers only FORMCHECKBOX Type 2 fibers only FORMCHECKBOX Perifascicular distribution FORMCHECKBOX Atrophic/hypotrophic fiber shapeSpecify: FORMCHECKBOX Angulated FORMCHECKBOX Round FORMCHECKBOX Myopathy-associated pathological structures, specify: FORMCHECKBOX Central nucleiSpecify estimated % of fibers (include eccentric nuclei): FORMCHECKBOX Eccentric nucleiSpecify estimated % of fibers (if not quantified above): FORMCHECKBOX Inclusion bodies/ Rimmed vacuoles FORMCHECKBOX Nemaline rodsSpecify: FORMCHECKBOX Restricted to one fiber type, specify which: FORMCHECKBOX Nuclear rods present FORMCHECKBOX Ragged red fibers, Estimated number: (please specify) FORMCHECKBOX COX- negative fibers, Estimated number: (please specify) FORMCHECKBOX Central coresSpecify: FORMCHECKBOX Structured FORMCHECKBOX Unstructured FORMCHECKBOX Minicores FORMCHECKBOX Marked hypotrophy of type 1 fibers FORMCHECKBOX Inflammation, mild FORMCHECKBOX Inflammation, moderate FORMCHECKBOX Inflammation, severeSpecify: FORMCHECKBOX PerivascularSpecify: FORMCHECKBOX Evidence of vascular damage FORMCHECKBOX Thrombi identified in blood vessels FORMCHECKBOX Diffuse FORMCHECKBOX Associated with myofiber damage FORMCHECKBOX Inflammatory cells identifiedSpecify (choose all that apply): FORMCHECKBOX Lymphocytes FORMCHECKBOX Neutrophils FORMCHECKBOX Macrophages FORMCHECKBOX Eosinophils (as a prominent component) FORMCHECKBOX Microorganisms identified, specify which: FORMCHECKBOX Abnormal storage materialSpecify: FORMCHECKBOX Abnormal cell types found in the biopsySpecify which ones: FORMCHECKBOX Excessive glycogenSpecify severity: FORMCHECKBOX Mild FORMCHECKBOX Severe FORMCHECKBOX Excessive intracellular lipidSpecify severity: FORMCHECKBOX Mild FORMCHECKBOX Severe FORMCHECKBOX Liver biopsy performedDescribe results: Which immunohistochemical stains were used? (choose all that apply) FORMCHECKBOX Myosin immunohistochemistry FORMCHECKBOX Dystrophin panel (list stains in question 4) FORMCHECKBOX Other stains for limb-girdle or congenital muscular dystrophy (list stains in question 4) FORMCHECKBOX Inflammatory myopathy panel (list stains in question 4)Immunohistochemical/ Immunofluorescence assays performed: (please specify)List name of antibodies used Antibodies Used, data tableName of antibodies used:Check if not knownData to be entered by site FORMCHECKBOX List the Western Blot assays performed and corresponding results:#1Name of assay:Result: : #2Name of assay:Result:Assays with normal immunoreactivity: (please specify)Assays with reduced immunoreactivity: (please specify)Assays with absent immunoreactivity: (please specify)Other abnormalities noted on immunohistochemistry: (please specify)Epon-Embedded Tissue/Electron Microscopy (Muscle Biopsy/Autopsy Specimens)Abnormalities seen on: FORMCHECKBOX Light microscopy (Toluidine blue staining) FORMCHECKBOX Electron microscopy FORMCHECKBOX Both – Light microscopy and Electron microscopyAbnormalities noted in: FORMCHECKBOX Contractile apparatus FORMCHECKBOX Sarcotubular organization FORMCHECKBOX Mitochondria, specify (choose all that apply): FORMCHECKBOX Abnormal shape FORMCHECKBOX Abnormal numbers FORMCHECKBOX Abnormal location FORMCHECKBOX Abnormal architectureDescribe any pathological inclusions noted, or indicate Not applicable: FORMCHECKBOX N/A Describe any abnormal storage material identified, or indicate Not applicable: FORMCHECKBOX N/A General InstructionsThis form contains data elements that are collected when performing various muscle biopsies.Important note: The data elements included in this CRF module span the range of diagnostic abnormalities seen in both pediatric and adult neuromuscular biopsy specimens. While each of these specific elements does not need to be included in every clinical biopsy report, this checklist provides a list of potentially pertinent positive and negative findings that should be considered when reporting a muscle biopsy. While the usefulness of these specific findings will depend on the differential diagnosis on a clinical case, all of these findings can be clinically important in specific situations. In cases where a specific diagnosis is not clear, it is recommended to evaluate and report the presence or absence of these findings to facilitate subsequent attempts to select biopsies for genetic testing or enrollment in research studies.Specific InstructionsPlease see the Data Dictionary for definitions for each of the data elements included in this CRF module.Clinical History: These elements should be included, when available, to communicate the understanding the pathologist had of the participant/ subject’s clinical symptoms.Size of tissue collected – This information may not be available for autopsy tissue. ................
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