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Pediatric Soft Tissue Sarcoma in Limb-Girdle Muscular Dystrophy: Molecular Findings and Clinical Implications.
Am J Case Rep
December 2024
Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden.
BACKGROUND Limb-girdle muscular dystrophy recessive 1 (LGMDR1) is an autosomal recessive degenerative muscle disorder characterized by progressive muscular weakness caused by pathogenic variants in the CAPN3 gene. Desmoplastic small round cell tumors (DSRCT) are ultra-rare and aggressive soft tissue sarcomas usually in the abdominal cavity, molecularly characterized by the presence of a EWSR1::WT1 fusion transcript. Mouse models of muscular dystrophy, including LGMDR1, present an increased risk of soft tissue sarcomas.
View Article and Find Full Text PDFCOVID-19 is a trigger of autoimmune rheumatic diseases: a hypothesis tested over time.
Rheumatol Int
December 2024
Department of General Practice N2, South Kazakhstan Medical Academy, Shymkent, Kazakhstan.
We discuss the paper recently published in Rheumatology Internationa. This article reflects on the prevalence of autoimmune rheumatic diseases (ARD) during the COVID-19 pandemic (2020-2023) and compares the same with the pre-pandemic period (2016-2019). We assume that SARS-CoV-2 triggers ARD.
View Article and Find Full Text PDFPerceived effects of health status on sexual activity in patients with axial spondyloarthritis: a 5-year follow-up study.
Rheumatol Int
December 2024
Division of Rheumatology, Department of Internal Medicine, Sorlandet Hospital, Kristiansand, Norway.
Axial spondyloarthritis (ax-SpA) causes pain, fatigue, stiffness, loss of physical function, and poor health status, which can influence sexual activity and enjoyment. To explore whether patients with ax-SpA perceive that their health status effects their sexual activity and to identify predictors of these perceived effects on sexual activity after a 5-year follow-up. Data about demographics, disease, medication, health-related quality of life (HRQOL), and sexual quality of life (SQOL) were collected at the baseline and 5-year follow-up.
View Article and Find Full Text PDFEffective combination of corticosteroid and cyclosporine A for immunoglobulin A nephropathy with membranoproliferative glomerulonephritis features: a case report.
CEN Case Rep
December 2024
Division of Nephrology and Hypertension, Department of Internal Medicine, The Jikei University School of Medicine, Minato-Ku, Tokyo, 105-8461, Japan.
Immunoglobulin A nephropathy (IgAN) is the most common primary glomerulonephritis worldwide with heterogeneous histopathological phenotypes. Although IgAN with membranoproliferative glomerulonephritis (MPGN)-like features has been reported in children and adults, treatment strategies for this rare IgAN subtype have not been established. Here, we present the case of a 56-year-old man with no history of kidney disease who initially presented with nephrotic syndrome.
View Article and Find Full Text PDFA case of neuron-derived neurotrophic factor-positive, syphilis-related membranous nephropathy that achieved spontaneous remission.
CEN Case Rep
December 2024
Department of Medicine and Clinical Science, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-Ku, Fukuoka, 812-8582, Japan.
Neuron-derived neurotrophic factor (NDNF) was discovered as a target antigen in membranous nephropathy (MN) caused by syphilis. However, there have been few reports of NDNF-positive MN in Japan. A 19-year-old female patient was admitted to our hospital with nephrotic syndrome and acute kidney injury.
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