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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 PDFNeonatal meconium aspiration syndrome associated with ABCA3 gene mutation and mycoplasma infection: a case report.
BMC Pediatr
January 2025
Department of Pediatrics II (Neonatology), Medical University of Innsbruck, Innsbruck, Austria.
Preterm infants are at high risk of developing respiratory distress syndrome (RDS). Mutations in the genes encoding for surfactant proteins B and C or the ATP-binding cassette transporter A3 (ABCA3) are rare but known to be associated with severe RDS and interstitial lung diseases. The exact prevalence of these mutations in the general population is difficult to determine, as they are usually studied in connection with clinical symptoms.
View Article and Find Full Text PDFThe predictive value of triglyceride-glucose index combined with non-high-density lipoprotein cholesterol in coronary heart disease.
BMC Cardiovasc Disord
January 2025
Department of Cardiology, Yiwu Central Hospital, 699 Jiangdong Road, Yiwu, Zhejiang, 322000, China.
Background And Aims: To explore the predictive value of the triglyceride-glucose(TyG)index combined with non-high-density lipoprotein cholesterol (Non-HDL-C) in coronary atherosclerotic heart disease (CHD).
Methods And Results: We retrospectively collected patients who were suspected of CHD and underwent coronary angiography in Yiwu Central Hospital and collected medical history, other serum biochemical evaluation and echocardiography from the enrolled population, Non-HDL-C and TyG indices were calculated, and their correlation with Gensini score was analyzed. Logistic regression analysis was used to analyze the risk factors of coronary heart disease, and ROC curves were plotted to assess the predictive value of CHD in subjects with single or multiple indices.
The relationship between frailty syndrome and quality of life in patients with hypertension: a multidimensional analysis.
BMC Geriatr
January 2025
Department of Emergency Medical Service, Faculty of Nursing and Midwifery, Wroclaw Medical University, Wroclaw, 51-618, Poland.
Background: Hypertension is a common condition among the elderly and is frequently accompanied by frailty syndrome (FS). The coexistence of hypertension and FS poses significant challenges in patient management and negatively impacts the quality of life (QoL). This study aimed to analyze the relationship between FS and QoL in elderly patients with suspected hypertension.
View Article and Find Full Text PDFUnexpected renal side effects of mRNA COVID-19 vaccines; a single-center experience and short review.
Am J Med Sci
January 2025
Department of Internal Medicine and Oncology, Faculty of Medicine, Semmelweis University, Budapest, Hungary.
Background: In late 2019, the World Health Organization declared Coronavirus disease 2019 a global emergency. Since then, many vaccines have been developed to combat the pandemic. Millions of people have received one of the approved COVID-19 vaccines; unfortunately, some adverse events also have been recorded.
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