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IP3 receptor depletion in a spontaneous canine model of Charcot-Marie-Tooth disease 1J with amelogenesis imperfecta.
PLoS Genet
January 2025
Department of Veterinary Biosciences, Faculty of Veterinary Medicine, University of Helsinki, Helsinki, Finland.
Inositol 1,4,5-trisphosphate receptors (IP3R) mediate Ca2+ release from intracellular stores, contributing to complex regulation of numerous physiological responses. The involvement of the three IP3R genes (ITPR1, ITPR2 and ITPR3) in inherited human diseases has started to shed light on the essential roles of each receptor in different human tissues and cell types. Variants in the ITPR3 gene, which encodes IP3R3, have recently been found to cause demyelinating sensorimotor Charcot-Marie-Tooth neuropathy type 1J (CMT1J).
View Article and Find Full Text PDFEfficacy of Platelet-Rich Plasma Versus Placebo for the Treatment of Greater Trochanteric Pain Syndrome: A Double-Blinded Randomized Controlled Trial.
J Bone Joint Surg Am
January 2025
Northumbria Healthcare NHS Foundation Trust, Northumberland, United Kingdom.
Background: Greater trochanteric pain syndrome (GTPS) is a painful condition that can impair a patient's quality of life. If nonoperative measures fail, progressively more invasive treatment options may be required. This clinical trial aimed to evaluate the effectiveness of ultrasound-guided leukocyte-rich platelet-rich plasma (LR-PRP) injections in the treatment of refractory GTPS caused by bursitis and/or gluteal tendinopathy.
View Article and Find Full Text PDFFeasibility and resource utilization of nurse-administered subcutaneous immunoglobulin therapy in antibody deficiency: A cross-sectional study.
PLoS One
January 2025
Department of Medicine, Division of Pulmonary Medicine, University of Alberta, Edmonton, AB, Canada.
Primary and secondary antibody deficiencies (PAD and SAD) are amongst the most prevalent immunodeficiency syndromes, often necessitating long-term immune globulin replacement therapy (IRT). Both intravenous immunoglobulin (IVIG) and subcutaneous immunoglobulin (SCIG) have demonstrated efficacy in antibody deficiency. Comparative analyses of these two routes of administration are limited to nurse-administered IVIG and home therapy with self-administered SCIG.
View Article and Find Full Text PDFCardiorespiratory demands of firearms training instruction and 15m shuttle tests in British law enforcement.
PLoS One
January 2025
Division of Surgery & Interventional Science, Institute of Sport Exercise and Health, University College London, London, United Kingdom.
Objectives: Law enforcement agencies require minimum fitness standards to safeguard their officers and training staff. Firearms instructors (FI) are expected to maintain the same standards as their operational counterparts. This study aimed to quantify the daily physiological demands placed on FI.
View Article and Find Full Text PDFUse of assistive technology to assess distal motor function in subjects with neuromuscular disease.
PLOS Digit Health
January 2025
Centre Référent Maladies Rares Neuromusculaires, Service de Médecine Physique et de Réadaptation Pédiatrique des Hospices Civils de Lyon - Hôpital Femme Mère Enfant, Bron, France.
Unlabelled: Among the 32 items of the Motor Function Measure scale, 3 concern the assessment of hand function on a paper-based support. Their characteristics make it possible to envisage the use of a tablet instead of the original paper-based support for their completion. This would then make it possible to automate the score to reduce intra- and inter-individual variability.
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