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Clinical and genetic characteristics of patients with monocarboxylate transporter-8 deficiency: a multicentre retrospective study.
Eur J Pediatr
December 2024
Department of Pediatric Endocrinology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey.
Unlabelled: Allan-Herndon-Dudley syndrome is a neurodevelopmental disorder characterized by motor and intellectual disabilities. Despite its rarity, there has been a rise in interest due to ongoing research and emerging therapy suggestions. In this multicenter, retrospective, cross-sectional study, the genetic characteristics and clinical data of twenty-one cases of genetically confirmed MCT8 deficiency were evaluated.
View Article and Find Full Text PDFFeature Engineering for the Prediction of Scoliosis in 5q-Spinal Muscular Atrophy.
J Cachexia Sarcopenia Muscle
February 2025
Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität Zu Berlin, Center for Musculoskeletal Surgery, Berlin, Germany.
Article Synopsis
- 5q-Spinal muscular atrophy (SMA) is a rare disease that can now be treated, presenting new challenges for pediatricians as treatment decisions evolve with disease-modifying therapies.
- A data-driven machine learning approach was used to analyze a dataset of 84 SMA patients, focusing on predicting scoliosis by selecting relevant features through expert knowledge and statistical methods.
- The study identified key predictors like motor function scores, age, weight, and various medical interventions, achieving a prediction accuracy of 82% using a Random Forest Classifier.
Phenotypic variability in congenital myasthenic syndrome with GFPT1 mutation.
Acta Neurol Belg
November 2024
Department of Neurology, Govind Ballabh Pant Postgraduate Institute of Medical Education and Research, G B Pant Hospital, Room No: 501, New Delhi, 110002, India.
Background: Congenital myasthenic syndrome (CMS) is phenotypically and genetically different from myasthenia gravis. CMS can present in adolescents and can be treatable. Genetic testing is helpful in diagnosis, and guides therapy, alleviating the need of muscle biopsy.
View Article and Find Full Text PDF[Arthroscopically assisted suture osteosynthesis of tibial eminence fractures in children and adolescents].
Oper Orthop Traumatol
November 2024
Klinik für Kinderchirurgie, Klinikum Dritter Orden, München, Deutschland.
Objective: The surgical goal is the arthroscopically assisted, closed reduction, and suture osteosynthesis of fractures of the tibial eminence in children and adolescents.
Indications: Fractures of the tibial eminence type (II)-III according to Meyers & McKeever or type IV according to Zaricznyj.
Contraindications: Fracture of the tibial eminence type I, conservatively treatable fracture type II according to Meyers & McKeever and ligamentous rupture of the anterior cruciate ligament.
Late-onset myopathy responsive to immunomodulatory treatment: sporadic late-onset nemaline myopathy without nemaline rods?
BMJ Neurol Open
November 2024
Neurology, Edith Wolfson Medical Center, Holon, Tel Aviv, Israel.
Background: Late-onset sporadic nemaline myopathy (SLONM) is a rare, treatable or potentially life-threatening muscle disorder that typically manifests late in life and is characterised by the presence of nemaline rods within muscle fibres, serving as the hallmark of the disease and the key to diagnosis.
Methods: We report a case of an elderly patient with subacute onset of severe weakness affecting the upper and lower limbs, neck extensors and abdominal muscles. A comprehensive laboratory workup was performed.
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