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Case Report: A Novel Homozygous Variant in the Gene Causes Fanconi Anemia.
Genet Test Mol Biomarkers
January 2025
Department of Biology, University of Sistan and Baluchestan, Zahedan, Iran.
Fanconi anemia (FA) is a rare genetic disorder that affects multiple systems in the body and is the most prevalent congenital syndrome, leading to bone marrow failure. Twenty-two genes have been identified as contributors to the disease. Significant advancements have been made in the past 2 decades in understanding the genetic and pathophysiological processes involved.
View Article and Find Full Text PDFSouth Asia has high prevalence rates of type 2 diabetes (T2D). Until the 1990s, the prevalence of T2D within South Asia was low but much higher in the South Asian diaspora living abroad. Today, high prevalence rates of T2D are reported among those living in South Asia.
View Article and Find Full Text PDFPrenatal Diagnosis of Berry Syndrome by Fetal Echocardiography.
Ultrasound Q
March 2025
Department of Echocardiography, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, Anhui, 230001, China.
Berry syndrome is a rare combination of cardiac malformations, which is characterized by the following malformations, including the aortopulmonary window, aortic right pulmonary origin, interrupted aortic arch or hypoplastic aortic arch or coarctation of the aorta, and an intact ventricular septum. There are few reviews on prenatal diagnosis of Berry syndrome by fetal echocardiography. We used sequential cross-sectional scanning from apex to bottom of the heart to find aortic right pulmonary origin, aortopulmonary window, and hypoplastic aortic arch.
View Article and Find Full Text PDFDiagnostic properties of differing BP thresholds for adverse pregnancy outcomes in standard-risk nulliparous women: A secondary analysis of SCOPE cohort data.
PLoS Med
January 2025
Department of Women and Children's Health, School of Life Course and Population Sciences, Faculty of Life Sciences and Medicine, King's College London, London, United Kingdom.
Background: In 2017, the American College of Cardiology and American Heart Association (ACC/AHA) lowered blood pressure (BP) thresholds to define hypertension in adults outside pregnancy. If used in pregnancy, these lower thresholds may identify women at increased risk of adverse outcomes, which would be particularly useful to risk-stratify nulliparous women. In this secondary analysis of the SCOPE cohort, we asked whether, among standard-risk nulliparous women, the ACC/AHA BP categories could identify women at increased risk for adverse outcomes.
View Article and Find Full Text PDFDepressive Symptoms and Amyloid Pathology.
JAMA Psychiatry
January 2025
Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy at the University of Gothenburg, Mölndal, Sweden.
Importance: Depressive symptoms are associated with cognitive decline in older individuals. Uncertainty about underlying mechanisms hampers diagnostic and therapeutic efforts. This large-scale study aimed to elucidate the association between depressive symptoms and amyloid pathology.
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