Figure Clinical, radiologic, and histopathologic findings

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Case Study 21 Craig Horbinski, M.D., Ph.D..

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Figure Genomic and facial overview of the microduplications overlapping the GRIN2D gene found in the retrieved patients Genomic and facial overview of.

Figure 1 Box plot of the venous diameter in lesions

Figure 3 Perimysial and muscle fiber pathology in HMGCR antibody–associated myopathy (A) Perimysial pathology with histiocytic cells and widening (hematoxylin.

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Figure 2 Needle biopsy of the left vastus lateralis

Figure Neuroimaging and pathology

Figure 3 Immunohistochemical analyses of positive and negative Epstein-Barr virus (EBV) control tissues using immunostaining Immunohistochemical analyses.

Figure 1 Coronal MRI images showing the evolution of white matter abnormality and atrophy of patient 1 Coronal MRI images showing the evolution of white.

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Figure 1 Treg percentage and suppressive function increased during each round of Treg infusions Treg percentage and suppressive function increased during.

Figure 2 Muscle pathology of patients 2, 26, 11, 9, 32, and 48

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Figure Pedigree of the family

Figure 4 Detection of EBER+ cells in MS and control brains by in situ hybridization Detection of EBER+ cells in MS and control brains by in situ hybridization.

Figure 2 Vastus lateralis biopsy of P2 (A) Vastus lateralis muscle cryostat section hematoxylin and eosin (H&E) staining shows basophilic subsarcolemmal.

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Figure 2 Muscle histology and morphometric analysis demonstrating muscle fiber hypertrophy, occasional internalized nuclei and slight irregularity in the.

Figure 1 Histopathologic features of case 1 (A–G) and case 2 (H–L)‏

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Figure 1 Histamine flare in patients and controls

Figure 2 Global tau-PET distribution in familial prion disease mirrors the distribution seen in Alzheimer disease Global tau-PET distribution in familial.

Figure 2 Repopulation of CD19+ cells in low and high BSA patients and calculation of the BSA Repopulation of CD19+ cells in low and high BSA patients and.

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Figure 2 Pedigrees of families and segregation analysis of variants c

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Figure 3 Bilateral optic atrophy and sural nerve biopsy of patient AII-2 Bilateral optic atrophy and sural nerve biopsy of patient AII-2 (A) Red-free photographs.

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Figure 4 Venn diagram for B-cell Sup proteins compared with proteins from exosome-enriched fractions from a human B-cell line Venn diagram for B-cell Sup.

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Presentation transcript:

Figure Clinical, radiologic, and histopathologic findings Clinical, radiologic, and histopathologic findings Patient photographs depicting pectoralis and biceps brachii atrophy (A), asymmetric quadriceps atrophy (B, arrow), anterior lower limb (B), and calf muscle atrophy (C). Muscle MRI (D) showing diffuse thigh muscle atrophy, greatest in the hamstring (open triangles) and vastus lateralis (solid triangles) muscles, bilaterally. Quadriceps muscle biopsy showing (E, F, and H, hematoxylin-eosin) muscle fiber size variability ranging from 15 to 160 μm, groups of atrophic fibers, fiber splitting and internalized nuclei (E, arrows), few fibers with multiple small non-rimmed vacuoles (E, asterisks, representative fiber), and increased perimysial fibrous and fatty connective tissue; rimmed vacuoles (F, arrow, representative fiber), which were also observed in modified Gomori trichrome staining (G, asterisk, fiber with rimmed vacuoles). Congo red-stained sections viewed under rhodamine optics revealed no congophilic deposits (data not shown). Regenerating (H, arrow head) and necrotic (H, asterisk) fibers and foci of perivascular inflammatory reactions (H, arrow) were seen in some regions of the sections (hematoxylin-eosin). Immunocytochemical studies characterized the perivascular inflammatory cells as CD45+ (I); invasion of non-necrotic muscle fibers by inflammatory cells was not observed. ATPase reacted section (pH 4.6) showed extensive grouping of the type 1 and type 2A fibers in several fascicles (J), where the darkest fibers are type 1 and lightest fibers are type 2A, suggestive of reinnervation; the atrophic fibers were of either histochemical type. Nicolas N. Madigan et al. Neurol Genet 2018;4:e287 Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.