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Preimplantation genetic testing for four families with severe combined immunodeficiency: Three unaffected livebirths.
Orphanet J Rare Dis
January 2025
Center for Reproductive Medicine, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, China.
Purpose: Severe combined immunodeficiency (SCID) is a set of rare monogenic inherited diseases that together represent the most severe form of the primary immunodeficiency disease phenotype. Preimplantation genetic testing for monogenic defects (PGT-M) is an effective reproductive technology strategy to prevent disease-causing gene mutations from being transmitted to offspring. The aim of this study was to report the use of PGT-M strategy based on karyomapping in four families to avoid the birth of SCID children.
View Article and Find Full Text PDFPrevalence of pulmonary tuberculosis and associated factors among adults living with HIV/AIDS in Ethiopia, systematic review and meta-analysis.
BMC Infect Dis
January 2025
Department of Health Promotion and Health Behavior, Institute of Public Health, College of Medicine and Health Sciences, University of Gondar, Gondar, Ethiopia.
Background: Tuberculosis (TB), caused by Mycobacterium tuberculosis (MTB), remains a global health crisis, especially in sub-Saharan Africa, where high human immune virus (HIV) prevalence exacerbates the problem. The co-infection of TB and HIV creates a deadly combination, increasing susceptibility and complicating disease progression and treatment. Ethiopia, classified as a high-burden country, faces significant challenges despite efforts to reduce co-infection rates.
View Article and Find Full Text PDFBackground: Once an incurable deadly disease of urgent public health concern, human immunodeficiency virus (HIV) infection has now evolved into a chronic condition largely manageable with combination therapy as the treatment standard. In comparison, Alzheimer disease (AD) is a fatal illness that continues to pose epidemiologic and socioeconomic challenges not only to persons and families affected by it but also to the healthcare system as a whole. With the recent approval of multi-targeted therapies in AD and numerous clinical trials in the pipeline, there is an urgency to search for ways to best maximize their efficacy and utility.
View Article and Find Full Text PDFThe article presents a clinical case of secondary cardiomyopathy in an HIV patient with plasmablastic lymphoma due to the combined pathology (HIV infection with ongoing antiretroviral therapy in combination with antitumor therapy), in which the use of multimodal imaging contributed to establishing the correct diagnosis and excluding the unjustified use of invasive methods for diagnosing ischemic heart disease.
View Article and Find Full Text PDFHaematopoietic stem cell transplantation in children with inborn errors of immunity: A single centre experience.
Scand J Immunol
January 2025
Department of Pediatric Hematology Oncology & Bone Marrow Transplantation Unit, University of Health Sciences Ankara Bilkent City Hospital, Ankara, Turkey.
This study retrospectively analyzed the outcomes of 61 pediatric patients with inborn errors of immunity (IEI) who underwent hematopoietic stem cell transplantation (HSCT) between 2011 and 2023. Patients were categorized into primary immunodeficiency disorders (PIDD), primary immune dysregulation disorders (PIRD), and congenital defects of phagocyte number or function (CDP). Median ages at diagnosis and HSCT were 9 and 30 months, respectively.
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