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A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome.
Hereditas
January 2025
Key Laboratory of Reproductive Health Diseases Research and Translation of Ministry of Education & Key Laboratory of Human Reproductive Medicine and Genetic Research of Hainan Provincie & Hainan Provincial Clinical Research Center for Thalassemia, The First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, Hainan, 571101, China.
Background: The dynein cytoplasmic two heavy chain 1 (DYNC2H1) gene encodes a cytoplasmic dynein subunit. Cytoplasmic dyneins transport cargo towards the minus end of microtubules and are thus termed the "retrograde" cellular motor. Mutations in DYNC2H1 are the main causative mutations of short rib-thoracic dysplasia syndrome type III with or without polydactyly (SRTD3).
View Article and Find Full Text PDFPregnancy-related chronic type A aortic dissection highlights the importance of thorough prenatal maternal examination.
J Cardiothorac Surg
January 2025
Semmelweis University Heart and Vascular Centre, Budapest, 1122, Hungary.
Background: Aortic dissection occurs rarely during pregnancy but carries a significantly high vital risk for both the mother and the fetus. Early diagnosis and treatment are critical for a successful outcome.
Case Presentation: A 32-year-old pregnant woman at 31 weeks of gestation began experiencing shortness of breath, chest pain, and palpitations, which were attributed to an anxiety disorder she had been previously diagnosed with.
AI-based analysis of fetal growth restriction in a prospective obstetric cohort quantifies compound risks for perinatal morbidity and mortality and identifies previously unrecognized high risk clinical scenarios.
BMC Pregnancy Childbirth
January 2025
Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, University of Utah Health, 30 N. Mario Capecchi Dr., Level 5 South, Salt Lake City, UT, 84132, USA.
Background: Fetal growth restriction (FGR) is a leading risk factor for stillbirth, yet the diagnosis of FGR confers considerable prognostic uncertainty, as most infants with FGR do not experience any morbidity. Our objective was to use data from a large, deeply phenotyped observational obstetric cohort to develop a probabilistic graphical model (PGM), a type of "explainable artificial intelligence (AI)", as a potential framework to better understand how interrelated variables contribute to perinatal morbidity risk in FGR.
Methods: Using data from 9,558 pregnancies delivered at ≥ 20 weeks with available outcome data, we derived and validated a PGM using randomly selected sub-cohorts of 80% (n = 7645) and 20% (n = 1,912), respectively, to discriminate cases of FGR resulting in composite perinatal morbidity from those that did not.
ESR Essentials: imaging of common paediatric pulmonary diseases-practice recommendations by the European Society of Paediatric Radiology.
Eur Radiol
January 2025
Departments of Radiology and Nuclear Medicine, Erasmus MC - Sophia Children's Hospital, Rotterdam, the Netherlands.
Chest imaging in children presents unique challenges due to varying requirements across age groups. For chest radiographs, achieving optimal images often involves careful positioning and immobilisation techniques. Antero-posterior projections are easier to obtain in younger children, while lateral decubitus radiographs are sometimes used when expiratory images are difficult to obtain and for free air exclusion.
View Article and Find Full Text PDFUnveiling the epidemiology and community perspectives on bovine brucellosis in North Shewa, Central Highlands of Ethiopia.
Sci Rep
January 2025
College of Veterinary Medicine and Agriculture, Addis Ababa University, P. O. Box 34, Bishoftu, Ethiopia.
Brucellosis is a bacterial disease of many domestic and wild animals with great economic and public health importance. Although it has a major constraint in dairy production, comprehensive information regarding the epidemiology of brucellosis in dairy herds is limited. Besides, evaluating the dairy farmers' knowledge, attitude, and practice (KAP) regarding brucellosis is crucial for generating information that can enhance control programs and public health interventions.
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