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Evans 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 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.
View Article and Find Full Text PDFHIF-1α mediates hypertension and vascular remodeling in sleep apnea via hippo-YAP pathway activation.
Mol Med
December 2024
Department of Otorhinolaryngology/Head and Neck, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, No.3 East Qingchun Road, Hangzhou, 310020, Zhejiang, China.
Background: Sleep apnea syndrome (SAS) is associated with hypertension and vascular remodeling. Hypoxia-inducible factor-1α (HIF-1α) and the Hippo-YAP pathway are implicated in these processes, but their specific roles remain unclear. This study investigated the HIF-1α/Hippo-YAP pathway in SAS-related hypertension.
View Article and Find Full Text PDFLeveraging human microbiomes for disease prediction and treatment.
Trends Pharmacol Sci
December 2024
Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX, USA; Texas Children's Microbiome Center, Department of Pathology, Texas Children's Hospital, Houston, TX, USA. Electronic address:
The human microbiome consists of diverse microorganisms that inhabit various body sites. As these microbes are increasingly recognized as key determinants of health, there is significant interest in leveraging individual microbiome profiles for early disease detection, prevention, and drug efficacy prediction. However, the complexity of microbiome data, coupled with conflicting study outcomes, has hindered its integration into clinical practice.
View Article and Find Full Text PDFEvaluating the adherent perinephric fat risk score in East Asian populations and its correlation with non-alcoholic fatty liver disease.
Nutr Metab Cardiovasc Dis
November 2024
Department of Urology, Longyan First Hospital Affiliated to Fujian Medical University, Longyan, 364000, China.
Background And Aims: This study evaluated the predictive value of the APF risk score in East Asian patients undergoing open nephrectomy and its correlation with hypertension and NAFLD.
Methods And Results: A retrospective study used the clinical data of 82 patients who underwent ON between January 2010 and December 2022. Per their APF score, patients were categorized into groups A (0-2 points) and B (3-4 points).
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