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Identifying novel heterozygous PI4KA variants in fetal abnormalities.
BMC Med Genomics
January 2025
Ultrasound Diagnosis Department, Maternal and Child Health Hospital of Hubei Province, Wuhan, 430070, China.
Background: The clinical manifestations of PI4KA-related disorders are characterized by considerable variability, predominantly featuring neurological impairments, gastrointestinal symptoms, and a combined immunodeficiency. The aim of this study was to delineate the novel spectrum of PI4KA variants detected prenatally and to assess their influence on fetal development.
Methods: A thorough fetal ultrasound screening was conducted, supplemented by both antenatal and post-abortion magnetic resonance imaging (MRI) studies.
Severe pregnancy-associated atypical hemolytic uremia syndrome in the context of the COVID-19 pandemic: a novel survival case report.
BMC Pregnancy Childbirth
January 2025
Department of Intensive Care Medicine, Army Medical Center of PLA, No. 10 Changjiang Road, Yuzhong District, Chongqing, 400010, People's Republic of China.
Background: Pregnancy-associated atypical hemolytic uremic syndrome (aHUS) is a form of thrombotic microangiopathy (TMA) caused by uncontrolled activation of the complement system during pregnancy or the postpartum period. In the intensive care unit, aHUS must be differentiated from sepsis-related multiple organ dysfunction, thrombotic thrombocytopenic purpura (TTP), hemolysis, elevated liver enzymes, and low platelet (HELLP) syndrome. Early recognition of aHUS is critical for effective treatment and improved prognosis.
View Article and Find Full Text PDFApplication of mean maximum Young's modulus value as a new parameter for differential diagnosis of prostate diseases.
Sci Rep
January 2025
Jun Shi Department of Ultrasound, The First Hospital of Hebei Medical University, Shijiazhuang City, 050031, Hebei Province, China.
Transrectal shear wave elastography (T-SWE) can be used non-invasively to diagnose prostate cancer (PCa) and benign prostatic hyperplasia (BPH). The prostate tissue can be viewed as an ellipsoidal sphere with viscoelastic characterization. Linear elastic model has been used to characterize soft tissues, and the simplification of partial characterization provides incomplete information.
View Article and Find Full Text PDF3D scanner's potential as a novel tool for lymphedema measurement in mouse hindlimb models.
Sci Rep
January 2025
Department of Plastic and Reconstructive Surgery, Faculty of Medicine, Hokkaido University, Sapporo, Japan.
Lymphedema is characterized by persistent swelling due to impaired lymphatic function and presents significant challenges in both research and clinical settings. Traditional contact-based measurement techniques such as paw thickness and circumferential measurements using calipers or silk thread are useful but limited by observer variability and measurement accuracy. Non-contact methods, including various imaging techniques, offer improvements but often at higher cost and complexity.
View Article and Find Full Text PDFAnhedonia relates to reduced striatal reward anticipation in depression but not in schizophrenia or bipolar disorder: A transdiagnostic study.
Cogn Affect Behav Neurosci
January 2025
Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Psychiatry and Neurosciences | CCM, Berlin, Germany.
Anhedonia, i.e., the loss of pleasure or lack of reactivity to reward, is a core symptom of major psychiatric conditions.
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