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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 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 PDFEvans syndrome as a presentation in systemic lupus erythematous, coexisting with Hashimoto's thyroiditis and pernicious anemia: a case report.
J Med Case Rep
December 2024
Faculty of Medicine, Al-Quds University, Jerusalem, Palestine.
Background: Evans syndrome is a rare disorder characterized by the simultaneous or sequential combination of autoimmune hemolytic anemia and immunological thrombocytopenia, together with a positive direct antiglobulin test. This syndrome, which can be primary or secondary, is a rare initial manifestation of autoimmune diseases, notably systemic lupus erythematosus, with 1.7-2.
View Article and Find Full Text PDFAn alternative multidrug regimen for multibacillary Hansen's disease: a case report.
J Med Case Rep
December 2024
Division of Infectious Diseases, Denver Health Medical Center, Denver, CO, USA.
Background: Leprosy (Hansen's disease) is an infectious disease most common in resource-limited countries caused by the acid-fast bacilli Mycobacterium leprae and Mycobacterium lepromatosis that frequently affects the skin and peripheral nerves. Prompt diagnosis and treatment with multidrug therapy is crucial to reduce disease transmission and sequelae, which include nerve function impairment, ocular injury, and stigmatizing physical deformities. Traditional treatment of multibacillary leprosy consists of 12-24 months of multidrug therapy with dapsone, rifampin, and clofazimine.
View Article and Find Full Text PDFAicardi-Goutières syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period.
Pediatr Rheumatol Online J
December 2024
Translational Genetics Research Group, La Fe Health Research Institute (IIS La Fe), Avenida Fernando Abril Martorell nº 106 Tower A, 7th Floor, Valencia, Spain.
Background: Aicardi-Goutières Syndrome is a monogenic type 1 interferonopathy with infantile onset, characterized by a variable degree of neurological damage. Approximately 7% of Aicardi-Goutières Syndrome cases are caused by pathogenic variants in the ADAR gene and are classified as Aicardi-Goutières Syndrome type 6. Here, we present a new homozygous pathogenic variant in the ADAR gene.
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