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Variants in the SOX9 transactivation middle domain induce axial skeleton dysplasia and scoliosis.
Proc Natl Acad Sci U S A
January 2025
Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
SOX9 is a crucial transcriptional regulator of cartilage development and homeostasis. Dysregulation of is associated with a wide spectrum of skeletal disorders, including campomelic dysplasia, acampomelic campomelic dysplasia, and scoliosis. Yet how variants contribute to the spectrum of axial skeletal disorders is not well understood.
View Article and Find Full Text PDFCongenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.
Ann Neurol
January 2025
School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, New South Wales, Australia.
Unlabelled: Congenital titinopathy has recently emerged as one of the most common congenital muscle disorders.
Objective: To better understand the presentation and clinical needs of the under-characterized extreme end of the congenital titinopathy severity spectrum.
Methods: We comprehensively analyzed the clinical, imaging, pathology, autopsy, and genetic findings in 15 severely affected individuals from 11 families.
Whole Blood DNA Methylation Analysis Reveals Epigenetic Changes Associated with ARSACS.
Cerebellum
January 2025
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy.
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare inherited condition described worldwide and characterized by a wide spectrum of heterogeneity in terms of genotype and phenotype. How sacsin loss leads to neurodegeneration is still unclear, and current knowledge indicates that sacsin is involved in multiple functional mechanisms. We hence hypothesized the existence of epigenetic factors, in particular alterations in methylation patterns, that could contribute to ARSACS pathogenesis and explain the pleiotropic effects of SACS further than pathogenic mutations.
View Article and Find Full Text PDFHow To Improve Patient Selection in Individuals With Lower Extremity Amputation Using a Bone-anchored Prosthesis.
Clin Orthop Relat Res
January 2025
Department of Rehabilitation, Radboud University Medical Center, Nijmegen, the Netherlands.
Background: Many patients with a lower limb socket-suspended prothesis experience socket-related problems, such as pain, chronic skin conditions, and mechanical problems, and as a result, health-related quality of life (HRQoL) is often negatively affected. A bone-anchored prosthesis can overcome these problems and improve HRQoL, but these prostheses have potential downsides as well. A valid and reliable tool to assess potential candidates for surgery concerning a favorable risk-benefit ratio between potential complications related to bone-anchored prostheses and improvements in HRQoL is not available yet.
View Article and Find Full Text PDFSafety, Immunogenicity, and Efficacy of Cytomegalovirus Vaccines: A Systematic Review of Randomized Controlled Trials.
Vaccines (Basel)
January 2025
Department of Biomedical Sciences and Public Health, Section of Hygiene, Preventive Medicine and Public Health, Polytechnic University of the Marche Region, 60126 Ancona, Italy.
Cytomegalovirus (CMV) is widespread and mostly causes asymptomatic infections in immunocompetent hosts, but it may lead to severe and life-threatening diseases in immunocompromised individuals, such as transplant patients and congenitally infected children, representing a significant public health concern. Although there are no licensed CMV vaccines, the development of a CMV vaccine is considered a high priority due to its potential to reduce the burden associated with CMV-related complications, and several approaches are under investigation. The objective of this systematic review was to synthesize the evidence on various CMV vaccines currently under clinical development.
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