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Longitudinal analysis of anthropometric measures over 5 years in patients with Friedreich ataxia in the EFACTS natural history study.
Eur J Neurol
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Department of Neurology, RWTH Aachen University, Aachen, Germany.
Background: Friedreich ataxia is a rare neurodegenerative disorder caused by frataxin deficiency. Both underweight and overweight occur in mitochondrial disorders, each with adverse health outcomes. We investigated the longitudinal evolution of anthropometric abnormalities in Friedreich ataxia and the hypothesis that both weight loss and weight gain are associated with faster disease progression.
View Article and Find Full Text PDFCorrection: Peisen et al. Can Delta Radiomics Improve the Prediction of Best Overall Response, Progression-Free Survival, and Overall Survival of Melanoma Patients Treated with Immune Checkpoint Inhibitors? 2024, , 2669.
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Institute of Neuroradiology, Johannes Gutenberg University Hospital Mainz, Langenbeckstraße 1, 55131 Mainz, Germany.
There was an error in the original publication [...
View Article and Find Full Text PDFIdentification of the Determinants of Plexiform Neurofibroma Morbidity in Pediatric and Young Adult Neurofibromatosis Type 1 Patients: A Pilot Multivariate Approach.
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Sophia, Department of General Pediatrics, Erasmus MC, 3015 GD Rotterdam, The Netherlands.
Background: Plexiform neurofibromas (PNs) are histologically benign peripheral nerve sheath tumors associated with neurofibromatosis type 1 (NF1) and often lead to significant morbidity due to growth. Management includes watchful waiting, surgery for partial debulking, and, since recently, systemic treatment with MEK inhibitors. However, due to the scarcity of natural history studies, our understanding of the natural progression of PNs to guide clinicians in deciding in whom and when to intervene is scarce.
View Article and Find Full Text PDFBiomiX, a user-friendly bioinformatic tool for democratized analysis and integration of multiomics data.
BMC Bioinformatics
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LBAI, UMR1227, Univ Brest, Inserm, Laboratory of Immunology, CHU Brest, Brest, France.
Background: Interpreting biological system changes requires interpreting vast amounts of multi-omics data. While user-friendly tools exist for single-omics analysis, integrating multiple omics still requires bioinformatics expertise, limiting accessibility for the broader scientific community.
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New Productive Force: The Preliminary Report of First Craniofacial Surgical Robot IST Multicenter Clinical Trial in China.
J Craniofac Surg
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Department of Plastic and Reconstructive Surgery, Shanghai 9th People's Hospital, School of Medicine, Shanghai Jiao Tong University.
Background: This paper presents the authors' team's research on a craniofacial surgical robot developed in China. Initiated in 2011 with government funding, the craniofacial surgical robot project was officially launched in Shanghai, developed jointly by the Ninth People's Hospital affiliated with Shanghai Jiao Tong University School of Medicine and the Shanghai Jiao Tong University medical-engineering team. Currently, based on multiple rounds of model surgeries, animal experiments, and clinical trials, our team is applying for approval as a Class III medical device from the National Medical Products Administration (NMPA).
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