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High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands.
Hum Genomics
January 2025
Department of Endocrine and Metabolic Diseases, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China.
Background: The molecular genetic diagnosis of congenital adrenal hyperplasia (CAH) is very challenging due to the high homology between the CYP21A2 gene and its pseudogene CYP21A1P.
Methodology: This study aims to assess the clinical efficacy of targeted long-read sequencing (T-LRS) by comparing it with a control method based on the combined assay (NGS, Multiplex ligation-dependent probe amplification and Sanger sequencing) and to introduce T-LRS as a first-tier diagnostic test for suspected CAH patients to improve the precise diagnosis of CAH.
Results: A large cohort of 562 participants including 322 probands and 240 family members was enrolled for the perspective (96 probands) and prospective study (226 probands).
Construction and characterization of chimeric FcγR T cells for universal T cell therapy.
Exp Hematol Oncol
January 2025
Department of Hematology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, 450052, China.
Background: Several approaches are being explored for engineering off-the-shelf chimeric antigen receptor (CAR) T cells. In this study, we engineered chimeric Fcγ receptor (FcγR) T cells and tested their potential as a versatile platform for universal T cell therapy.
Methods: Chimeric FcγR (CFR) constructs were generated using three distinct forms of FcγR, namely CD16A, CD32A, and CD64.
Prevalence and associated factors of malaria among the displaced population in refugee camps in Africa: a systematic review and meta-analysis.
Malar J
January 2025
Department of Medical Laboratory Sciences, College of Medicine and Health Sciences, Wollo University, Dessie, Ethiopia.
Background: The increased occurrence of malaria among Africa's displaced communities poses a new humanitarian problem. Understanding malaria epidemiology among the displaced population in African refugee camps is a vital step for implementing effective malaria control and elimination measures. As a result, this study aimed to generate comprehensive and conclusive data from diverse investigations undertaken in Africa.
View Article and Find Full Text PDFLactate accumulation promotes immunosuppression and fibrotic transformation of bone marrow microenvironment in myelofibrosis.
J Transl Med
January 2025
Department of Biomedical and Biotechnological Sciences, Division of Medical Biochemistry, University of Catania, Catania, Italy.
Background: Clonal myeloproliferation and fibrotic transformation of the bone marrow (BM) are the pathogenetic events most commonly occurring in myelofibrosis (MF). There is great evidence indicating that tumor microenvironment is characterized by high lactate levels, acting not only as an energetic source, but also as a signaling molecule.
Methods: To test the involvement of lactate in MF milieu transformation, we measured its levels in MF patients' sera, eventually finding a massive accumulation of this metabolite, which we showed to promote the expansion of immunosuppressive subsets.
The rise of weekly insulins: addressing the challenges of type 2 diabetes care in Brazil.
Diabetol Metab Syndr
January 2025
Serviço de Endocrinologia (SEMPR) do Hospital das Clínicas da Universidade Federal do Paraná (UFPR), Curitiba, Brazil.
Background: Type 2 diabetes mellitus (T2D) is a global health concern with a rising prevalence, particularly in Brazil. Insulin therapy plays a crucial role in managing T2D, helping to maintain glucose and energy homeostasis. Moreover, early initiation of insulin is crucial for hyperglycemic control and prevention of chronic complications.
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