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Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.
Ann Neurol
January 2025
School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, New South Wales, Australia.
Unlabelled: Congenital titinopathy has recently emerged as one of the most common congenital muscle disorders.
Objective: To better understand the presentation and clinical needs of the under-characterized extreme end of the congenital titinopathy severity spectrum.
Methods: We comprehensively analyzed the clinical, imaging, pathology, autopsy, and genetic findings in 15 severely affected individuals from 11 families.
Delphi Consensus on the Management of Spanish Patients with Post-Stroke Hemiplegic Shoulder Pain Treated with Botulinum Toxin A: Result Study.
Toxins (Basel)
January 2025
Doctor Negrín University Hospital of Gran Canaria, Pl. Barranco de la Ballena s/n, 35010 Las Palmas de Gran Canaria, Spain.
The study aimed to identify expert opinions and obtain recommendations on the management of post-stroke hemiplegic shoulder pain (HSP) and treatment with botulinum toxin A (BoNT-A). A multicenter Delphi study was conducted using an online survey designed by a committee of experts with at least 10 years of experience in post-stroke HSP management with BoNT-A in Spain. Forty-seven panelists (specialists with at least 5 years of experience in post-stroke HSP management with BoNT-A) rated their level of agreement in two rounds based on acceptance by ≥66.
View Article and Find Full Text PDFHamstrings and quadriceps muscle size and strength in female and male elite competitive alpine skiers.
Front Physiol
January 2025
Department of Orthopaedics, Sports Medical Research Group, Balgrist University Hospital, University of Zurich, Zurich, Switzerland.
Competitive alpine skiing requires a high level of physical fitness to perform sport-specific manoeuvres and to minimise the risk of injury. The aim of this study was to establish reference values for the maximal anatomical cross-sectional area (ACSA) of the individual hamstrings (HAM) and quadriceps (QUAD) muscles as well as for the maximal voluntary torque (MVT) during knee flexion (KF) and knee extension (KE) of female and male elite competitive alpine skiers. Ultrasound and dynamometer data were obtained from a largely overlapping but not identical dataset.
View Article and Find Full Text PDFAcute effects of proprioceptive neuromuscular facilitation stretching on rectus femoris muscle stiffness: a dose-response shear-wave elastography study.
Front Physiol
January 2025
Faculty of Health Sciences, University of Primorska, Koper, Slovenia.
Introduction: Proprioceptive neuromuscular facilitation (PNF) stretching is widely used to increase range of motion, but its underlying mechanisms are not well understood. This experimental, parallel group design study investigated the acute effects of PNF stretching on rectus femoris muscle stiffness and explored a potential dose-response relationship.
Methods: Thirty healthy young adults (23 females, 7 males) were randomly assigned to either a PNF stretching group (n = 15; 22.
Homozygous missense variant in causes early-onset neurodegeneration, leukoencephalopathy and autoinflammation.
J Med Genet
January 2025
Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
Biallelic pathogenic variants in cause a fatal autosomal recessive multisystem disorder characterized by recurrent autoinflammation, hypomyelination, progressive neurodegeneration, microcephaly, failure to thrive, liver dysfunction, respiratory chain defects and accumulation of glycogen in skeletal muscle. No missense variants in have been reported to date.We report a 6-year-old boy with microcephaly, global developmental delays, lower limb spasticity with hyperreflexia, epilepsy, abnormal brain MRI, failure to thrive, recurrent fevers and transaminitis.
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