The course of desmin-related restrictive cardiomyopathy (DRCM) during pregnancy has not been described previously because of the rarity of the condition. Following an episode of heart failure antecedent to conception, a 28-year-old primigravida with DRCM presented to establish prenatal care during the first trimester. Prenatal management consisted of β-blocker and diuretic therapy, with serial ...

Desmin (DES) is a major muscle scaffolding protein that also functions to anchor mitochondria. Pathogenic DES mutations, however, have not previously been recognized as a cause of multi-systemic mitochondrial disease. Here, we describe a 45-year-old man who presented to The Children's Hospital of Philadelphia Mitochondrial-Genetics Diagnostic Clinic for evaluation of progressive cardiac, neurom...

Mutations within the human desmin gene are responsible for a subcategory of myofibrillar myopathies called desminopathies. However, a single inherited mutation can produce different phenotypes within a family, suggesting that environmental factors influence disease states. Although several mouse models have been used to investigate organ-specific desminopathies, a more general mechanistic persp...

Antisera to the intermediate filaments vimentin and desmin react with fixed paraffin embedded tissue. Benign uterine myomas contain both classes of filaments. Gastrointestinal "smooth muscle tumours" however often lack desmin even when they appear histologically benign. In the sarcomas examined vimentin was the only class of intermediate filament present. The diagnostic and histogenetic implica...

BACKGROUND The distinction of benign from malignant mesothelial proliferations in cytologic specimens can be problematic. In this study, the authors investigated the utility of immunohistochemical (IHC) markers in making this distinction. METHODS Archival paraffin-embedded cell blocks of pleural and peritoneal fluids from 52 patients with malignant mesothelioma (MM) and 64 patients with react...

this report describes the histological and immunohistochemical features of a small intestinal tumor that resembled a human gastrointestinal stromal tumor (gists) in a seven-year-old male cross-breed dog. this was unique because of the expression of desmin by the tumor. grossly, the white-gray tumor measured 8.0 × 4.0 × 6.5 cm and was 760 gram in weight. it was cystic and enveloped the jejunum. ...

Histiocytic necrotizing lymphadenitis (HNL) usually affects cervical lymph nodes of young individuals and has a self-limited clinical course. Viral infection is ascribed as its cause, but its pathogenesis still remains unknown. A real-time PCR assay is useful for not only sensitive detection but also quantitation of virus DNA with a wide linear range. Using this technology, we estimated the loa...