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Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders.
Genome Med
January 2025
Laboratory of Cytogenetics and Genome Research, Centre for Human Genetics, KU Leuven, Leuven, 3000, Belgium.
Background: A subset of developmental disorders (DD) is characterized by disease-specific genome-wide methylation changes. These episignatures inform on the underlying pathogenic mechanisms and can be used to assess the pathogenicity of genomic variants as well as confirm clinical diagnoses. Currently, the detection of these episignature requires the use of indirect methylation profiling methodologies.
View Article and Find Full Text PDFEco-sustainable chromatographic method for the determination of favipiravir and nitazoxanide for COVID-19: application to human plasma.
BMC Chem
January 2025
Pharmaceutical Chemistry Department, Faculty of Pharmacy, Nile Valley University (NVU), El Fayoum, 63518, Egypt.
Coronavirus disease 2019 (COVID-19), an extremely contagious illness, has posed enormous challenges to healthcare systems around the world. Although the evidence on COVID-19 management is growing, antiviral medication is still the first line of treatment. Therefore, it is critical that effective, safe, and tolerable antivirals be available to treat early COVID-19 and stop its progression.
View Article and Find Full Text PDFPreimplantation 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 PDFMetagenomic analysis identifying a polymicrobial pulmonary infection in a non-HIV immunocompromised patient: a case report.
BMC Pulm Med
January 2025
Central Laboratory, Liaocheng People's Hospital and Liaocheng School of Clinical Medicine, Shandong First Medical University, Liaocheng, Shandong, 252000, China.
Background: Polymicrobial pulmonary infections, common in immunocompromised patients, often manifest more severe symptoms than monomicrobial infections. Clinical diagnosis delays may lead to mortality, emphasizing the importance of fast and accurate diagnosis for these patients. Metagenomic next-generation sequencing (mNGS), as an unbiased method capable of detecting all microbes, is a valuable tool to identify pathogens, particularly in cases where infections are difficult to diagnosis using conventional methods.
View Article and Find Full Text PDFSpatiotemporal analysis of mosquito-borne infections and mosquito vectors in mainland Portugal.
BMC Infect Dis
January 2025
EPIUnit - Instituto de Saúde Pública, Universidade do Porto, Rua das Taipas, nº 135, Porto, 4050 - 600, Portugal.
Background: The incidence of mosquito-borne infections has increased worldwide. Mainland Portugal's characteristics might favour the (re)emergence of mosquito-borne diseases. This study aimed to characterize the spatial distribution of vectors and notification rates of imported cases of mosquito-borne infections in mainland Portugal and demarcate the areas where these geographies overlap.
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