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Disco-Interacting Protein 2 Homolog B CGG Repeat Expansion in Siblings with Neurodevelopmental Disability and Progressive Movement Disorder.
Mov Disord
January 2025
British Columbia Children's Hospital Research Institute, Vancouver, British Columbia, Canada.
Background: Trinucleotide repeat expansions are an emerging class of genetic variants associated with various movement disorders. Unbiased genome-wide analyses can reveal novel genotype-phenotype associations and provide a diagnosis for patients and families.
Objective: The aim was to identify the genetic cause of a severe progressive movement disorder phenotype in 2 affected brothers.
Identification and Immunological Characterization of Cuproptosis Related Genes in Preeclampsia Using Bioinformatics Analysis and Machine Learning.
J Clin Hypertens (Greenwich)
January 2025
College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fuzhou, Fujian, China.
Preeclampsia (PE) is a pregnancy-specific disorder characterized by an unclearly understood pathogenesis and poses a great threat to maternal and fetal safety. Cuproptosis, a novel form of cellular death, has been implicated in the advancement of various diseases. However, the role of cuproptosis and immune-related genes in PE is unclear.
View Article and Find Full Text PDFNatural Killer Cell Education in Women With Recurrent Pregnancy Loss.
Am J Reprod Immunol
February 2025
GROW Research Institute for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands.
Problem: Natural killer (NK) cells undergo education for full functionality via interactions between killer immunoglobulin-like receptors (KIRs) or NKG2A and human leukocyte antigen (HLA) ligands. Presumably, education is important during early pregnancy as insufficient education has been associated with impaired vascular remodeling and restricted fetal growth in mice. NK cell education is influenced by receptor co-expression patterns, human cytomegalovirus (CMV), the HLA-E107 dimorphism, and HLA-B leader peptide variants.
View Article and Find Full Text PDFFrailty determinants in heart failure: Inflammatory markers, cognitive impairment and psychosocial interaction.
ESC Heart Fail
January 2025
Division of Research Methodology, Department of Nursing, Faculty of Nursing and Midwifery, Wroclaw Medical University, Wrocław, Poland.
Aims: This study aimed to identify factors associated with frailty in heart failure (HF) patients, focusing on demographic, biochemical and health-related variables. It also explored the correlation between frailty and comorbidities such as malnutrition, cognitive impairment and depression, assessing how these factors interact to influence frailty risk.
Methods: A total of 250 HF patients (mean age 73.
The Potential Role of Toxoplasma gondii Infection in Multiple Sclerosis Development: A Seroepidemiological Study in North Khorasan Province, Iran.
Acta Parasitol
January 2025
Vector-borne Diseases Research Center, North Khorasan University of Medical Sciences, P.O. Box: 9453155166, Bojnurd, Iran.
Pourpose: This study aimed to investigate the seroepidemiological status of Toxoplasma gondii (T. gondii) infection in Multiple Sclerosis (MS) patients compared to controls.
Methods: The present study included 98 MS patients and 100 controls.
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