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http://dx.doi.org/10.1086/345360 | DOI Listing |
J Pediatr Orthop B
December 2024
Department of Spine Surgery, The Second Xiangya Hospital of Central South University, Changsha, Hunan, China.
Rett syndrome, a neurodevelopmental disorder primarily affecting females, presents unique challenges in managing associated scoliosis. This study aims to evaluate the efficacy and challenges of posterior spinal fusion (PSF) in Rett syndrome patients by analyzing postoperative complications. A retrospective cohort study was conducted using a large national database.
View Article and Find Full Text PDFAm J Intellect Dev Disabil
January 2025
Breanne J. Byiers and Alyssa M. Merbler, University of Minnesota, Chantel C. Burkitt, Gillette Children's Specialty Healthcare, St. Paul, MN, and Frank J. Symons, University of Minnesota.
Sleep problems are common in Rett syndrome and other neurogenetic syndromes. Actigraphy is a cost-effective, objective method for measuring sleep. Current guidelines require caregiver-reported bed and wake times to facilitate actigraphy data scoring.
View Article and Find Full Text PDFTrials
December 2024
School of Medicine Depts of Pediatrics, Neurology and Pharmacology, Children's Hospital Colorado/University of Colorado, 12800 E 19th, MS8102, Aurora, CO, 80045, USA.
Introduction: The clinical, research and advocacy communities for Rett syndrome are striving to achieve clinical trial readiness, including having fit-for-purpose clinical outcome assessments. This study aimed to (1) describe psychometric properties of clinical outcome assessment for Rett syndrome and (2) identify what is needed to ensure that fit-for-purpose clinical outcome assessments are available for clinical trials.
Methods: Clinical outcome assessments for the top 10 priority domains identified in the Voice of the Patient Report for Rett syndrome were compiled and available psychometric data were extracted.
Orphanet J Rare Dis
December 2024
All Wales Medical Genomics Service, Wales Genomic Health Centre, Cardiff Edge Business Park, Longwood Drive, Whitchurch, Cardiff, CF14 7YU, Wales, UK.
Background: We have held a 'trouble-shooting' clinic for Rett syndrome patients from 2003 until the COVID pandemic in 2020. The clinic was multidisciplinary, including clinical genetics, paediatric neurology, adult learning disability psychiatry and physiotherapy. Access to specialist communication support and eye-gaze equipment was also often available.
View Article and Find Full Text PDFPathol Int
December 2024
Department of Molecular Pathology, Ehime University Graduate School of Medicine, Shitsukawa, Toon City, Japan.
Bone is a unique organ crucial for locomotion, mineral metabolism, and hematopoiesis. It maintains homeostasis through a balance between bone formation by osteoblasts and bone resorption by osteoclasts, which is regulated by the basic multicellular unit (BMU). Abnormal bone metabolism arises from an imbalance in the BMU.
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