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| http://dx.doi.org/10.1136/bmj.316.7127.307a | DOI Listing |
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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.
Dioscin pretreatment ameliorates ferroptosis in cardiomyocytes after myocardial infarction via inhibiting endoplasmic reticulum stress.
Mol Med
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The First People's Hospital of Lin'an District, No. 360, Yikang Street, Jinnan Subdistrict, Lin'an District, Hangzhou, Zhejiang, 311300, China.
Background: Myocardial infarction (MI) remains a leading cause of mortality globally, often resulting in irreversible damage to cardiomyocytes. Ferroptosis, a recently identified form of regulated cell death driven by iron-dependent lipid peroxidation, has emerged as a significant contributor to post-MI cardiac injury. The endoplasmic reticulum (ER) stress response has been implicated in exacerbating ferroptosis.
View Article and Find Full Text PDFLarge familial chromosomal duplications without apparent disease phenotypes: how to deal with them in prenatal diagnosis?
Pediatr Res
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Unit of Medical Genetics, Department of Molecular Medicine, University of Pavia, Pavia, Italy.
Posterior urethral valves: Examining the relationship of socioeconomic factors in disease presentation and progression.
J Pediatr Urol
January 2025
Division of Pediatric Urology, Department of Urology, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
Introduction: A significant portion of posterior urethral valve patients continue to progress to end stage renal disease despite improvements in medical care. Socioeconomic status has been connected to various healthcare outcomes but has not been evaluated in relation to longitudinal outcomes of posterior urethral valves.
Objective: To evaluate the effect of socioeconomic status on the progression to renal failure among patients with posterior urethral valves.
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