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The oral and maxillofacial manifestations of Stickler syndrome: a systematic review.
J Stomatol Oral Maxillofac Surg
January 2025
Univ. Lille, CHU Lille, Oral and Maxillofacial Surgery Department, Lille, France.
Introduction: Stickler syndrome is a rare genetic collagen disorder known for its ophthalmological abnormalities. However, there are several other associated facial features. The aim of this study is to review the literature on the various oral and maxillofacial manifestations of Stickler syndrome.
View Article and Find Full Text PDFFocused Investigation of Facial Nerve Dysfunction After Mandibular Distraction Osteogenesis for Robin Sequence.
J Craniofac Surg
January 2025
Division of Plastic and Reconstructive Surgery, Children's National Hospital.
Facial nerve dysfunction (FND) is a well-recognized but poorly documented complication of mandibular distraction osteogenesis (MDO) for Robin sequence (RS). This study aims to document the authors' experiences with FND and identify risk factors associated with this adverse event. A retrospective review of a prospectively gathered database was performed to identify patients with RS who underwent MDO at the authors' institution from March 2016 to June 2023.
View Article and Find Full Text PDFDiffusion tensor imaging with free-water correction reveals distinctions between severe and attenuated subtypes in Mucopolysaccharidosis type I.
J Inherit Metab Dis
January 2025
Department of Pediatrics, Medical School, University of Minnesota, Minneapolis, Minnesota, USA.
Mucopolysaccharidosis type I (MPS I) is an inherited lysosomal storage disorder leading to deleterious brain effects. While animal models suggested that MPS I severely affects white matter (WM), whole-brain diffusion tensor imaging (DTI) analysis was not performed due to MPS-related morphological abnormalities. 3T DTI data from 28 severe (MPS IH, treated with hematopoietic stem cell transplantation-HSCT), 16 attenuated MPS I patients (MPS IA) enrolled under the study protocol NCT01870375, and 27 healthy controls (HC) were analyzed using the free-water correction (FWC) method to resolve macrostructural partial volume effects and unravel differences in DTI metrics accounting for microstructural abnormalities.
View Article and Find Full Text PDFNeurodevelopmental impairment in children with Robin sequence: A systematic review and meta-analysis.
Early Hum Dev
December 2024
Perth Children's Hospital, Perth, Western Australia, Australia; University of Western Australia, Perth, Western Australia, Australia. Electronic address:
Objective: To estimate the global prevalence of neurodevelopmental impairment in children with Robin sequence (RS) at one year or more of age.
Study Design: Electronic databases such as PubMed, Embase, CINAHL, APA PsycInfo, Emcare, MedNAR and Cochrane library were searched systematically from inception to 31st May 2024. Studies reporting on the neurodevelopmental (global, cognitive, or motor) outcomes in children with RS were included.
Simultaneous death of two siblings, a Senna matter?
Toxicon
January 2025
CHU Lille, Unité Fonctionnelle de Toxicologie, 59000, Lille, France; Univ. Lille, URL 4483-IMPECS-IMPact de l'Environnement Chimique sur la Santé Humaine, Lille, France. Electronic address:
Senna is a medicinal herb commonly used as a laxative and dietary aid for weight loss. Repeated consumption of Senna may lead to persistent diarrhea. Furthermore, cases of acute liver failure and hepato-encephalopathic syndrome after chronic Senna ingestion were reported in literature.
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