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A rare haplotype of the GJD3 gene segregating in familial Meniere's disease interferes with connexin assembly.
Genome Med
January 2025
Otology & Neurotology Group CTS495, Instituto de Investigación Biosanitario, Ibs.GRANADA, Universidad de Granada, 18071, Granada, Spain.
Background: Familial Meniere's disease (FMD) is a rare polygenic disorder of the inner ear. Mutations in the connexin gene family, which encodes gap junction proteins, can also cause hearing loss, but their role in FMD is largely unknown.
Methods: We retrieved exome sequencing data from 94 individuals in 70 Meniere's disease (MD) families.
Congenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families.
BMC Musculoskelet Disord
January 2025
Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, 18 Daoshan Road, Fuzhou, 350001, China.
Background: Congenital muscular dystrophies (CMDs) and myopathies (CMYOs) are a clinically and genetically heterogeneous group of neuromuscular disorders that share common features, such as muscle weakness, hypotonia, characteristic changes on muscle biopsy and motor retardation. In this study, we recruited eleven families with early-onset neuromuscular disorders in China, aimed to clarify the underlying genetic etiology.
Methods: Essential clinical tests, such as biomedical examination, electromyography and muscle biopsy, were applied to evaluate patient phenotypes.
Efficient evidence selection for systematic reviews in traditional Chinese medicine.
BMC Med Res Methodol
January 2025
School of Management, Beijing University of Chinese Medicine, Beijing, China.
Purpose: The process of searching for and selecting clinical evidence for systematic reviews (SRs) or clinical guidelines is essential for researchers in Traditional Chinese medicine (TCM). However, this process is often time-consuming and resource-intensive. In this study, we introduce a novel precision-preferred comprehensive information extraction and selection procedure to enhance both the efficiency and accuracy of evidence selection for TCM practitioners.
View Article and Find Full Text PDFComparison of physico-chemical properties of different types of orthopedic acrylic cement.
J Biomater Sci Polym Ed
January 2025
Novel Drug Delivery Systems Laboratory, Faculty of Pharmacy, Medical Sciences/University of Tehran, Tehran, Iran.
Analyzing the chemical composition of different kinds of acrylic cement is necessary to understand their properties and suitability for curing bone defects. Conducting various chemical tests can give valuable insight into the composition, viscosity, and performance characteristics of each kind of cement, Therefore, our study aimed to find safety standards and the effectiveness of these products for medical applications. The polymeric characterization was determined by Nuclear Magnetic Resonance (H-NMR) spectroscopy and Fourier-transform infrared spectroscopy (FTIR).
View Article and Find Full Text PDFIn vivo assessment of regional scleral stiffness by shear wave elastography and its association with choroid and retinal nerve fiber layer characteristics in high myopia.
Graefes Arch Clin Exp Ophthalmol
January 2025
Department of Ophthalmology, School of Medicine, Renji Hospital, Shanghai Jiao Tong University, 160 Pujian Road, Shanghai, 200001, China.
Purpose: To evaluate the posterior scleral stiffness of different regions in high myopic eyes and to explore its associations with macular choroidal and peripapillary retinal nerve fiber layer (pRNFL) thickness and vasculature.
Methods: Thirty subjects with high myopic eyes and 30 subjects with low myopic eyes were included in this study. The elastic modulus of the macular and peripapillary sclera at the temporal, nasal, superior and inferior regions were determined via shear wave elastography (SWE).
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