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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 PDFTime to evaluation and characteristics of patients evaluated at epilepsy centers within an integrated health care delivery system.
Epilepsy Behav
January 2025
Division of Research, Kaiser Permanente Northern California, 4480 Hacienda Dr., Pleasanton, CA 94588 USA. Electronic address:
Objective: Rapid patient referral to epilepsy centers may facilitate subsequent disease-modifying surgical and non-surgical treatments. Delays of 15-18 years have been reported from time of epilepsy diagnosis to surgical evaluation in some settings, though patterns for timely guideline-concordant referrals within integrated care models are not well known and could inform strategies for optimizing guideline-concordant access.
Methods: We performed a retrospective cohort study of 1088 patients undergoing epilepsy center evaluation from January 1, 2008 through June 30, 2023 in a Northern California integrated healthcare delivery system (IDS) with a Level 4 Epilepsy Center.
Association between age at loss of ambulation and cardiac function in adults with Duchenne muscular dystrophy.
Neuromuscul Disord
January 2025
John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle upon Tyne, UK; Newcastle Hospitals NHS Foundation Trusts, Newcastle upon Tyne, UK. Electronic address:
Cardiomyopathy is a common co-morbidity in individuals with Duchenne muscular dystrophy (DMD). This retrospective single centre study investigated the relationship between age at loss of ambulation (LOA) and late stage left ventricular ejection fraction (LVEF) in 84 individuals (> 16 years old) with DMD taking glucocorticoid and ACE inhibitors treatment. Regression analyses showed a positive correlation between later age at LOA and higher LVEF in adulthood (linear regression estimate 1.
View Article and Find Full Text PDFAdmittance to the intensive care unit due to acute odontogenic cervicofacial infections; a single centre retrospective cohort study.
Oral Maxillofac Surg
January 2025
Department of Oral and Maxillofacial Surgery, Aristotle University, Papanikolaou avenue, Thessaloniki, 57010, Greece.
Background: The aim of this study is to assess the outcome of the patients who required intensive care unit (ICU) admittance after surgical drainage of an odontogenic cervicofacial infection and identify the variables that are able to predict severe infection or a high possibility of complications.
Patients And Methods: This is a retrospective cohort study including all adult patients admitted to our hospital over the period 2011-2020 due to odontogenic cervicofacial infection and required ICU admittance. The study was approved by the hospital's scientific committee (no 814-9/8/2021).
Americans' support for future pandemic policies: insights from a national survey.
Health Aff Sch
December 2024
The de Beaumont Foundation, Bethesda, MD 20814, United States.
The arrival of bird flu (H5N1) is a poignant reminder of the need for public health leaders to understand Americans' evolving perspectives on pandemic mitigation policies. To guide response efforts, we conducted a nationally representative opinion survey among 1017 U.S.
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