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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 PDFAssociation of digital eye strain with central corneal thickness: a cross-sectional observational pilot study.
Int Ophthalmol
January 2025
Department of Ophthalmology, Command Hospital, Pune, 411040, India.
Purpose: This study aimed to evaluate whether the digital eye strain (DES) was associated with the low central corneal thickness (CCT).
Methods: This observational cross-sectional pilot study was conducted from April 2023 to October 2023 at a tertiary eye care centre in North India, where CCT values were compared between subjects with DES and those without DES. Two hundred and eighty subjects (n = 280) aged 15-40 years with clear corneas and lenses were initially included in this study.
Imaging of elbow entrapment neuropathies.
Insights Imaging
January 2025
IRCCS Istituto Ortopedico Galeazzi, Milan, Italy.
Entrapment neuropathies at the elbow are common in clinical practice and require an accurate diagnosis for effective management. Understanding the imaging characteristics of these conditions is essential for confirming diagnoses and identifying underlying causes. Ultrasound serves as the primary imaging modality for evaluating nerve structure and movement, while MRI is superior for detecting muscle denervation.
View Article and Find Full Text PDFESR 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 PDFSucrose-preferring gut microbes prevent host obesity by producing exopolysaccharides.
Nat Commun
January 2025
Laboratory of Molecular Neurobiology, Graduate School of Biostudies, Kyoto University, Sakyo-ku, Kyoto, Japan.
Commensal bacteria affect host health by producing various metabolites from dietary carbohydrates via bacterial glycometabolism; however, the underlying mechanism of action remains unclear. Here, we identified Streptococcus salivarius as a unique anti-obesity commensal bacterium. We found that S.
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