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Understanding Myelodysplasia and Inflammation Through the Lense of VEXAS Syndrome: A Review.
Cells
November 2024
Department of Medicine, Division of Internal Medicine, Lausanne University Hospital (CHUV), University of Lausanne, 1005 Lausanne, Switzerland.
VEXAS syndrome, a monogenic X-linked disorder resulting from mutations in the UBA1 gene, has emerged as a key model for unraveling the links between systemic inflammatory or autoimmune diseases (SIAD) and myelodysplastic syndromes (MD). This syndrome is characterized by the presence of vacuoles, X-linked inheritance, autoinflammation, and somatic mutation patterns, highlighting a unique intersection between genetic and immunological dysregulation. Apart from VEXAS, 10% to 30% of individuals diagnosed with MDS exhibit SIAD phenotypes, a significant increase compared to the 5% incidence in the general population.
View Article and Find Full Text PDFVenous intestinal ischemia of fungal origin as a cause of intestinal obstruction in immunocompromised patients: case report and literature review.
Gut Pathog
November 2024
Department of Pathology and Laboratories, Fundación Santa Fe de Bogotá, Bogotá, D.C, Colombia.
Background: Mucormycosis is a highly lethal opportunistic fungal disease caused by ubiquitous molds of the order Mucorales, with Rhizopus, Lichtheimia and Mucor being the most common genera. This rare disease primarily affects immunocompromised patients, with presentations ranging from rhino-orbito-cerebral infections to disseminated mucormycosis with angioinvasion, leading to thrombosis and tissue infarction. Gastrointestinal mucormycosis is the least common clinical presentation and is believed to be secondary to spore ingestion.
View Article and Find Full Text PDF[Clinical Analysis of CD4CD8 T-Cell Large Granular Lymphocytic[JP] Leukemia].
Zhongguo Shi Yan Xue Ye Xue Za Zhi
October 2024
Department of Hematology, Linquan People's Hospital, Linquan 236400, Anhui Province, China.
Article Synopsis
- The study investigates the clinical features and treatment of a rare condition called CD4CD8 T-cell large granular lymphocytic leukemia (T-LGLL) through a case report.
- A 70-year-old woman was diagnosed and exhibited symptoms like low platelet counts and myelodysplasia, with blood tests showing an abundance of large granular lymphocytes.
- Treatment involving cyclophosphamide and prednisone led to partial remission, highlighting the unique clinical characteristics of CD4CD8 T-LGLL compared to other forms.
[Diagnosis and Risk Stratification of Acute Myeloid Leukemia, Myelodysplasia -Related].
Zhongguo Shi Yan Xue Ye Xue Za Zhi
October 2024
Department of Hematology, Jiangsu Province Hospital, The First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, Jiangsu Province, China.
Objective: To analyze the clinical and genetic characteristics of acute myeloid leukemia, myelodysplasia-related (AML-MR) patients and evaluate their prognostic risk stratification, to guide clinical treatment decisions and improve understanding of the biological characteristics and disease progression.
Methods: The study analyzed cellular and molecular genetic information of 307 AML-MR patients, diagnosed based on clinical history, bone marrow morphology, cytogenetics, and molecular genetic abnormalities. The risk stratification followed the 2022 ELN guidelines.
Genetic and Clinical Spectrum of SAMD9 and SAMD9L Syndromes: from Variant Interpretation to Patient Management.
Blood
October 2024
St. Jude Children Research Hospital, Memphis, Tennessee, United States.
Article Synopsis
- SAMD9 and SAMD9L are genes linked to antiviral functions that affect cell growth and can lead to diverse health issues when mutated, including immune problems and bone marrow failure.
- Most patients with these mutations experience a range of symptoms, with SAMD9 often associated with growth issues and adrenal insufficiency, while SAMD9L may lead to progressive neurological problems.
- The study compiles data from 243 cases, emphasizing the need for better understanding and management of these syndromes through genetic testing and specialized care to improve patient outcomes.
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