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Crosstalk between non-coding RNAs and programmed cell death in colorectal cancer: implications for targeted therapy.
Epigenetics Chromatin
January 2025
Research Center for Biochemistry and Nutrition in Metabolic Diseases, Institute for Basic Sciences, Kashan University of Medical Sciences, Kashan, Iran.
Background: Colorectal cancer (CRC) remains one of the most common causes of cancer-related mortality worldwide. Its progression is influenced by complex interactions involving genetic, epigenetic, and environmental factors. Non-coding RNAs (ncRNAs), including microRNAs (miRNAs), long non-coding RNAs (lncRNAs), and circular RNAs (circRNAs), have been identified as key regulators of gene expression, affecting diverse biological processes, notably programmed cell death (PCD).
View Article and Find Full Text PDFTP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate.
Genome Med
January 2025
Hereditary Cancer Group, Oncobell Program, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), Av. Gran Via 199-203, L'Hospitalet del Llobregat, 08908, Spain.
Background: Germline heterozygous pathogenic variants (PVs) in TP53 cause Li-Fraumeni syndrome (LFS), a condition associated with increased risk of multiple tumor types. As the associated cancer risks were refined over time, clinical criteria also evolved to optimize diagnostic yield. The implementation of multi-gene panel germline testing in different clinical settings has led to the identification of TP53 PV carriers outside the classic LFS-associated cancer phenotypes, leading to a broader cancer phenotypic redefinition and to the renaming of the condition as "heritable TP53-related cancer syndrome" (hTP53rc).
View Article and Find Full Text PDFPoikiloderma with neutropenia: a case report.
J Med Case Rep
January 2025
Department of Pediatrics, University Children Hospital, Damascus University, Damascus, Syria.
Background: Poikiloderma with neutropenia is a rare genetic disorder primarily characterized by the presence of poikiloderma and congenital chronic neutropenia. Mutations in the C16orf57 gene, which encodes the USB1 protein, are implicated as the underlying cause of poikiloderma with neutropenia.
Case Presentation: Our patient, an 11-year-old Syrian male child who presented with poikiloderma, palmoplantar keratoderma, pachyonychia, recurrent infections, and neutropenia, is considered to be the first documented case in Syria.
Integrating the ADS Score with 24-Hour ASPECTS and red cell distribution width for enhanced prediction of stroke-associated pneumonia following intravenous thrombolysis: model development and internal validation.
Eur J Med Res
January 2025
Division of Radiology, Saraburi Hospital, Saraburi, Thailand.
Introduction: Stroke-associated pneumonia (SAP) is a major cause of mortality during the acute phase of stroke. The ADS score is widely used to predict SAP risk but does not include 24-h non-contrast computed tomography-Alberta Stroke Program Early CT Score (NCCT-ASPECTS) or red cell distribution width (RDW). We aim to evaluate the added prognostic value of incorporating 24-h NCCT-ASPECTS and RDW into the ADS score and to develop a novel prediction model for SAP following thrombolysis.
View Article and Find Full Text PDF95-95-95 HIV indicators among children younger than 15 years in South Africa: results from the 2017 national HIV prevalence, incidence, behaviour, and communication survey.
AIDS Res Ther
January 2025
Human Sciences Research Council, Pretoria, South Africa.
Background: Early detection and initiation of care is crucial to the survival and long-term well-being of children living with HIV (CLHIV). However, there remain challenges regarding early testing and linking of CLHIV for early treatment. This study examines the progress made towards achieving the 95-95-95 HIV indicators and associated factors among CLHIV < 15 years in South Africa.
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