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Association between maternal folic acid and/or multivitamin supplementation time and fetal congenital heart disease: based on the China birth cohort study.
Int J Med Sci
January 2025
Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University. Beijing Maternal and Child Health Care Hospital. Beijing 100026, China.
A multitude of studies have presented inconsistent outcomes regarding the association between maternal folic acid (FA) and/or multivitamin (MV) supplementation and congenital heart disease (CHD) in offspring. This study aimed to estimate supplementation time and CHD based on a prospective China birth cohort study (CBCS). In the CBCS, 114,670 singleton pregnant women who had pregnancy outcomes until August 2021 and responded to the early pregnancy questionnaire were recruited.
View Article and Find Full Text PDFRegulation of INPP5E in Ciliogenesis, Development, and Disease.
Int J Biol Sci
January 2025
Department of Basic & Translational Sciences, School of Dental Medicine, University of Pennsylvania, USA.
Inositol polyphosphate-5-phosphatase E (INPP5E) is a 5-phosphatase critically involved in diverse physiological processes, including embryonic development, neurological function, immune regulation, hemopoietic cell dynamics, and macrophage proliferation, differentiation, and phagocytosis. Mutations in cause Joubert and Meckel-Gruber syndromes in humans; these are characterized by brain malformations, microphthalmia, situs inversus, skeletal abnormalities, and polydactyly. Recent studies have demonstrated the key role of INPP5E in governing intracellular processes like endocytosis, exocytosis, vesicular trafficking, and membrane dynamics.
View Article and Find Full Text PDFThe Impact of Inferior Vena Cava Anomalies on Deep Vein Thrombosis: A Case Report.
Cureus
December 2024
Cardiology, Lower Bucks Hospital, Bristol, USA.
Inferior vena cava (IVC) anomalies are rare congenital pathologies related to variations of agenesis, hypoplasia, or atresia, predisposing patients to thromboembolic events secondary to an alteration in venous drainage with resultant stasis. This is a case report of a 27-year-old male without significant medical history presenting for a fall after playing recreational basketball with associated pain and swelling in his left lower extremity. After his symptoms progressively worsened, he came to the emergency room for an evaluation where an ultrasound (US) of the extremity showed extensive deep vein thromboses (DVT).
View Article and Find Full Text PDFBilateral Ovarian Agenesis and Bone Modeling Disease in Pre-puberty Girl With Primary Amenorrhea.
Cureus
December 2024
Department of Obstetrics and Gynecology, Royal Medical Services, Amman, JOR.
Ovarian agenesis (OA) is a rare congenital condition characterized by the absence of one or both ovaries, often associated with chromosomal abnormalities, hormonal imbalances, and structural deformities. The condition is frequently diagnosed in females presenting with primary amenorrhea and delayed sexual development. This case report highlights a unique presentation of bilateral ovarian agenesis in a patient with chromosome X translocation, bone modeling disease, and primary amenorrhea.
View Article and Find Full Text PDFExperience of post-traumatic growth among parents of children with biliary atresia undergoing living-related liver transplantation: a descriptive phenomenological study.
Eur J Psychotraumatol
December 2025
Department of Nursing, the First Affiliated Hospital, Zhejiang University School of Medicine, Zhejiang, People's Republic of China.
To explore the experience of post-traumatic growth among parents of children with biliary atresia undergoing living-related liver transplantation.: Participants were recruited within 2 weeks of their child's transplant surgery using purposive sampling. Transcripts were analyzed using Colaizzi's descriptive analysis framework, with collaborative analysis conducted using NVivo 12 software and a post-traumatic growth model.
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