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Spinal Muscular Atrophy Update in Best Practices: Recommendations for Diagnosis Considerations.
Neurol Clin Pract
August 2024
Cure SMA (M. Schroth, JD), Elk Grove Village, IL; Department of Pediatrics (KA), Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock; Neurology and Neuromuscular Care Center (DC), Denton, TX; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Pediatrics (MAG), University of Colorado School of Medicine, Aurora; Department of Pediatrics (Neurology) (CI), Yale University School of Medicine, New Haven, CT; Department of Pediatrics and Neurology (NLK), Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern Feinberg School of Medicine, IL; Department of Neurology (AL), University of Louisville, Norton Children's Medical Group, KY; Department of Pediatrics (ENK), University of Michigan Health, Ann Arbor; The Dubowitz Neuromuscular Centre (M. Scoto), Great Ormond Street Hospital Trust, London, UK & Great Ormond Street Institute of Child Health, University College London, United Kingdom; Department of Women's and Children's Health (TS), Karolinska Institutet, Department of Child Neurology, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden, and Center for Neuromusculoskeletal Restorative Medicine, Hong Kong Science Park, Shatin, New Territories, Hong Kong; MDUK Oxford Neuromuscular Center & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom, and Neuromuscular Center, Department of Paediatrics, University of Liege and University Hospital of Liege, Belgium; Division of Neurology (CT), Cincinnati Children's Hospital Medical Center & Department of Pediatrics, University of Cincinnati Medical College, OH; Center for Gene Therapy (MAW), The Abigail Wexner Research Institute, Nationwide Children's Hospital, Departments of Pediatric and Neurology, The Ohio State University Wexner Medical Center, Columbus; and Motor Neuron Disease Unit (JFV-C), Hospital la Fe, IIS La Fe, CIBERER, University of Valencia, Spain.
Article Synopsis
- Spinal muscular atrophy (SMA) is a genetic disorder caused by mutations in the survival motor neuron 1 gene, leading to progressive muscle degeneration, prompting a need to update diagnosis best practices post-treatment advancements and newborn screening implementation.
- A systematic review and expert consensus from healthcare professionals in the U.S. and Europe emphasized the critical role of newborn screening (NBS) for SMA and established new recommendations for characterizing NBS-identified infants and enhancing specialty care services.
- The working group highlighted the necessity of involving individuals with SMA and their caregivers in the process to better support and provide resources for those diagnosed through NBS, while noting limited data on adult-onset SMA diagnosis.
The Obese Taste Bud study: Objectives and study design.
Diabetes Obes Metab
June 2024
Department of Medicine III, Division of Endocrinology, Nephrology and Rheumatology, University of Leipzig, Leipzig, Germany.
Article Synopsis
- The Obese Taste Bud (OTB) Study aims to explore the relationship between taste perception, taste cell health, and obesity, using a cohort of participants from the University of Leipzig.
- Participants are assessed through various tests including taste and smell evaluations, body measurements, and collection of biological samples, with follow-up on weight loss interventions.
- Initial results suggest that metabolic factors, diet, and age may significantly influence taste perception, with the study intending to enhance understanding of how these elements contribute to obesity.
Evaluation of New Technology-Based Tools for Dietary Intake Assessment-An ILSI Europe Dietary Intake and Exposure Task Force Evaluation.
Nutrients
December 2018
School of Food Science and Nutrition, University of Leeds, Leeds LS2 9JT, UK.
Background: New technology-based dietary assessment tools, including Web-based programs, mobile applications, and wearable devices, may improve accuracy and reduce costs of dietary data collection and processing. The International Life Sciences Institute (ILSI) Europe Dietary Intake and Exposure Task Force launched this project to evaluate new tools in order to recommend general quality standards for future applications.
Methods: A comprehensive literature search identified technology-based dietary assessment tools, including those published in English from 01/2011 to 09/2017, and providing details on tool features, functions and uses.
[2013: what's new in inflammatory neuropathies].
Rev Neurol (Paris)
December 2014
Département des neurosciences cliniques, université de Lausanne, CHU Vaudois (CHUV), BH07/413, rue du Bugnon 46, 1011 Lausanne, Suisse. Electronic address:
Several high-quality publications were published in 2013 and some major trials studies were started. In Guillain-Barré syndrome, events included the launch of IGOS and a better understanding of diagnostic limits, the effect of influenza vaccination, and better care, but uncertainty remains about analgesics. A new mouse model was also described.
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