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Report of a Rare Syndromic Retinal Dystrophy: Asphyxiating Thoracic Dystrophy (Jeune Syndrome).
Turk J Ophthalmol
January 2025
İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, Department of Ophthalmology, İstanbul, Türkiye.
Jeune syndrome (JS), first described by Jeune as asphyxiating thoracic dystrophy, is an autosomal recessive osteochondrodysplasia with characteristic skeletal abnormalities and variable renal, hepatic, pancreatic, and ocular complications. Approximately 1 in every 100,000 to 130,000 babies is born with JS. Most patients with JS have respiratory distress due to inadequate lung development and many lose their lives due to respiratory failure.
View Article and Find Full Text PDFIs lean mass quantity or quality the determinant of maximal fat oxidation capacity? The potential mediating role of cardiorespiratory fitness.
J Int Soc Sports Nutr
December 2025
University of Cadiz, ExPhy Research Group, Department of Physical Education, Puerto Real, Spain.
Background: Impaired fat oxidation is linked to cardiometabolic risk. Maximal fat oxidation rate (MFO) reflects metabolic flexibility and is influenced by lean mass, muscle strength, muscle quality - defined as the ratio of strength to mass - and cardiorespiratory fitness. The relationship between these factors and fat oxidation is not fully understood.
View Article and Find Full Text PDFA 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 PDFParents' awareness towards preventive and interceptive orthodontic treatment.
BMC Res Notes
January 2025
King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia.
Objectives: This study aims to assess the awareness and acceptance of preventive and interceptive orthodontic treatment among Saudi perents.
Methods: The study used a 29-question questionnaire, covering parents' demographic data, parents' awareness of malocclusion and habits, and parents' acceptance of treatment. It included visuals of different malocclusions, normal occlusion, and specific habits.
Langerhans cell histiocytosis in children: the value of ultrasound in diagnosis and follow-up.
BMC Med Imaging
January 2025
Department of Ultrasound Medicine, First Affiliated Hospital, Fujian Medical University, Fuzhou, 350005, China.
Background: Langerhans cell histiocytosis (LCH) is a rare disease, most prevalent in children. Ultrasound is a noninvasive, cheap, and widely available technique. However, systematic elucidation of sonographic features of LCH and treatment related follow-up are relatively few, resulting in overall underestimation of the clinical value of ultrasound in diagnosing and monitoring LCH.
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