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Pathogenicity assessment of genetic variants identified in patients with severe hypertriglyceridemia: novel cases of Familial Chylomicronemia Syndrome from the Dyslipidemia Registry of the Spanish Atherosclerosis Society.
Genet Med
January 2025
Lipids and Atherosclerosis Laboratory, Department of Medicine and Dermatology, Centro de Investigaciones Médico Sanitarias (CIMES), Instituto de Investigación Biomédica de Málaga y Plataforma en Nanomedicina (IBIMA -Plataforma Bionand), University of Málaga, Málaga, Spain; Lipid Unit. Internal Medicine Service. University Hospital Virgen de la Victoria, Málaga, Spain.
Purpose: Genetic testing is required to confirm a diagnosis of familial chylomicronemia syndrome (FCS). We assessed the pathogenicity of variants identified in the FCS canonical genes to diagnose FCS cases.
Methods: 245 patients with severe hypertriglyceridemia underwent next-generation sequencing.
Prognostic signature based on mitochondria- and angiogenesis-related genes associated with immune microenvironment of multiple myeloma.
Hematology
December 2025
Department of Hematology, XuChang Central Hospital, XuChang, People's Republic of China.
Introduction: Mitochondria and angiogenesis play key roles in multiple myeloma (MM) development, but their interrelated genes affecting MM prognosis are under-studied.
Methods: We analyzed TCGA_MMRF and GSE4581 datasets to identify four genes - CCNB1, CDC25C, HSP90AA1, and PARP1 - that significantly correlate with MM prognosis, with high expression indicating poor outcomes.
Results: A prognostic signature based on these genes stratified patients into high- and low-risk groups, with the latter showing better survival.
Loss of dental pulp potentially increased the risk of Alzheimer's dementia.
J Dent Sci
January 2025
Department of Oral Physiology, School of Dentistry, Seoul National University, Seoul, Republic of Korea.
Background/purpose: Chronic periodontitis and tooth loss contribute to cognitive decline. Since many biological processes are shared by loss of teeth and loss of pulps, this study investigated the potential association between loss of pulp and the development of dementia.
Materials And Methods: A retrospective cohort analysis was conducted to investigate the association between dental treatment and the development of dementia.
A biomarker framework for cardiac aging: the Aging Biomarker Consortium consensus statement.
Life Med
October 2023
Department of Cardiology, The Second Medical Centre, Chinese PLA General Hospital, National Clinical Research Center for Geriatric Diseases, Beijing 100853, China.
Cardiac aging constitutes a significant risk factor for cardiovascular diseases prevalent among the elderly population. Urgent attention is required to prioritize preventive and management strategies for age-related cardiovascular conditions to safeguard the well-being of elderly individuals. In response to this critical challenge, the Aging Biomarker Consortium (ABC) of China has formulated an expert consensus on cardiac aging biomarkers.
View Article and Find Full Text PDFAldosterone and Potassium in Heart Failure: Overcoming This Major Impediment in Clinical Practice.
Card Fail Rev
December 2024
Department of Medicine, University of Mississippi Medical Center Jackson, MS, US.
Aldosterone is a key regulator of fluid and electrolyte balance in the body. It is often dysregulated in heart failure (HF) and is a key driver of cardiac remodelling and worse clinical outcomes. Potassium regulation is essential for normal cardiac, gastrointestinal and neuromuscular function.
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