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The Management of Bone Defects in Rett Syndrome.
Calcif Tissue Int
January 2025
Department of Medicine, Surgery and Neuroscience, University of Siena, Siena, Italy.
Rett syndrome (RS) is a rare neurodevelopmental disorder primarily caused by mutations in the X-linked methyl-CpG binding protein 2 (MECP2) gene, responsible for encoding MECP2 which plays a pivotal role in regulating gene expression. The neurological and non-neurological manifestations of RS vary widely in severity depending on the specific mutation type. Bone complications, mostly scoliosis but also osteoporosis, hip displacement, and a high rate of fractures, are among the most prevalent non-neurological comorbidities observed in girls with RS.
View Article and Find Full Text PDFClinical predictors of disease severity in oral lichen planus.
Clin Exp Dermatol
January 2025
Institute of Dentistry, School of Medicine, Medical Sciences & Nutrition, University of Aberdeen, Aberdeen, UK.
Background: The limited understanding of factors influencing the disease progression of oral lichen planus (OLP) poses challenges in delivering effective and personalised treatment for this condition, known to increase the risk of oral cancer and adversely impact patient quality of life.
Objective: This study aimed to systematically identify clinical predictors of disease severity in OLP patients.
Methods: This cross-sectional and single-site prospective study was conducted between December 2021 and February 2024 in the Departments of Oral Medicine and Oral & Maxillofacial Surgery, Aberdeen Royal Infirmary.
Clinical Manifestations.
Alzheimers Dement
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Centre for Brain Research, Indian Institute of Science, Bangalore, Karnataka, India.
Background: Auditory attention and memory are the understudied aspects of cognition. Poor performance on cognitive tasks is assumed to be due to peripheral hearing loss, which is not always the case. Auditory processing issues may affect the auditory recall and attention tasks even though the hearing and cognition are normal.
View Article and Find Full Text PDFAccuracy of Capillary Blood for Assessing Vitamin A Nutritional Status Among Children Under 7 Years of Age: A Multicenter Study.
Matern Child Nutr
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Department of Developmental and Behavioral Pediatrics, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Vitamin A deficiency remains a major public health problem worldwide, particularly among young children. Capillary blood has the potential for application in vitamin A assessment. The aim of this study is to validate the accuracy of capillary blood for assessing vitamin A nutritional status among young children.
View Article and Find Full Text PDFPre-diagnostic 25-hydroxyvitamin D levels and subsite-specific colorectal cancer risk: A nested case-control study from the Norwegian Women and Cancer Study (NOWAC).
Br J Nutr
January 2025
Department of Community Medicine, University of Tromsø - The Arctic University of Norway, 9037 Tromsø, Norway.
Colorectal cancer, the third most common cancer globally, causes over 900,000 deaths annually. Although vitamin D is observed to have potential anti-carcinogenic properties, research findings on its preventable effect against colorectal cancer remain inconclusive. Notably, different subsites within the colon and rectum may be associated with distinct risk factors.
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