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Archive: April 2021

STIM1 and ORAI1

STIM1 and ORAI1
Considering the clinical vignette from the prior week (elderly male with proximal muscle weakness). Staining the skeletal muscle biopsy with Hematoxylin and Eosin (H&E) in combination with frozen sections evaluated with Modified Gomori Trichrome (MGT) and oxidative stains, as well as electron microscopy, demonstrated findings diagnostic of myopathy with tubular aggregates (TAM). See the images.  Mutation in which of the following genes is associated with myopathy with tubular aggregates?   Frozen tissue section of skeletal muscle with Tubular Aggregate Myopathy (TAM) demonstrating two adjacent muscle fibers with round to ovoid eccentric and subsarcolemmal inclusion-type material with dense granular basophilic (blue)...

Diagnose This (April 5, 2021)

ACNA or Anti-GBM
In a patient with these findings, which serological exams results would you be interested to know?     ​ ​   ​   ​ ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​ ​   ​ ​   ​ ​...

Tubular Aggregates

Tubular aggregates in H&E stain of muscle/nerve biopsy
Considering the clinical vignette from the prior week (elderly male with proximal muscle weakness). Staining the skeletal muscle biopsy with Hematoxylin and Eosin (H&E) in combination with frozen sections evaluated with Modified Gomori Trichrome (MGT) and oxidative stains can provide the neuropathologist with much information, including clues as to the ultrastructural abnormality of this myopathy. Electron microscopy was pursued. Using the images, what is the ultrastructural abnormality shown below in this skeletal muscle biopsy?   Formalin-fixed paraffin-embedding (FFPE) tissue section of skeletal muscle with Tubular Aggregate Myopathy (TAM) demonstrating four nearby muscle fibers with round to ovoid eccentric and subsarcolemmal...

Twitter Poll (April 1, 2021)

Granulomatous TIN, twitter poll, arkana laboratories
Answer: Granulomatous TIN   The classic finding for renal sarcoidosis is that of a non-necrotizing granulomatous tubulointerstitial nephritis (Granulomatous TIN). However, on biopsy this finding is non-specific and thus the differential diagnosis would also include drug/hypersensitivity reaction, infections (i.e. mycobacterial, fungal), and autoimmune disease. Sarcoidosis is considered a diagnosis of exclusion and thus clinical correlation is required.