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| http://dx.doi.org/10.1136/jmg.2004.018887 | DOI Listing |
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A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome.
Hereditas
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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.
Perceived healthiness of sugary drinks and related social norms among adults in five countries: evidence from the International Food Policy Study.
Nutr J
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École de nutrition, Faculté des sciences de l'agriculture et de l'alimentation (FSAA), Université Laval, 2440, boulevard Hochelaga, Québec, Québec, G1V 0A6, Canada.
Background: A better understanding of correlates of sugary drink consumption is essential to inform public health interventions. This study examined differences in perceived healthiness of sugary drinks and related social norms between countries, over time, and sociodemographic groups and associations with sugary drink intake.
Methods: This study used annual cross-sectional data from the International Food Policy Study from 2018 to 2021 in Australia, Canada, the United Kingdom, the United States, and Mexico.
"I surely don't call for fun": experiences of being a "frequent caller" to the Danish emergency helpline.
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Department of Research and Development, Central Denmark Region, The Prehospital Emergency Medical Services, Brendstrupgaardsvej 7, Aarhus N, 8200, Denmark.
Background: While most Danish citizens never or very rarely call the national emergency helpline, 1-1-2, a few citizens call very often. In this article, we attend to the often-unheard voices of frequent callers, exploring why these citizens call 1-1-2 and why they often do not feel helped.
Methods: The article is based on a mixed-methods study on citizens in the Central Denmark Region who had called 1-1-2 five or more times during a period of six months in 2023.
Influence of the metabolic control in patients with type 1 diabetes on their oral health status and the need for orthodontic treatment in a group of Spanish children (aged 6-12 years): a cross-sectional study.
BMC Oral Health
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Department of Surgery, Faculty of Medicine, University of Salamanca, Salamanca, Spain.
Background: The aim of this study was to analyze the influence of good metabolic control, based on glycosylated hemoglobin (HbA1c) levels, on oral health status and the need for orthodontic treatment in children.
Methods: This cross-sectional study was carried out at the Dental Clinic of the University of Salamanca (Spain) during the years 2020 and 2024. A total of 260 children with type 1 diabetes (aged between 6 and 12 years) participated.
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