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Nifuroxazide rescues the deleterious effects due to CHCHD10-associated MICOS defects in disease models.
Brain
October 2024
Université Côte d'Azur, Inserm U1081, CNRS UMR7284, IRCAN, CHU de Nice, 06107, Nice, France.
The identification of a point mutation (p.Ser59Leu) in the CHCHD10 gene was the first genetic evidence that mitochondrial dysfunction can trigger motor neuron disease. Since then, we have shown that this mutation leads to the disorganization of the MItochondrial contact site and Cristae Organizing System (MICOS) complex that maintains the mitochondrial cristae structure.
View Article and Find Full Text PDFHeterozygous knockout of Synaptotagmin13 phenocopies ALS features and TP53 activation in human motor neurons.
Cell Death Dis
August 2024
Institute of Anatomy and Cell Biology, Ulm University School of Medicine, Ulm, Germany.
Spinal motor neurons (MNs) represent a highly vulnerable cellular population, which is affected in fatal neurodegenerative diseases such as amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA). In this study, we show that the heterozygous loss of SYT13 is sufficient to trigger a neurodegenerative phenotype resembling those observed in ALS and SMA. SYT13 hiPSC-derived MNs displayed a progressive manifestation of typical neurodegenerative hallmarks such as loss of synaptic contacts and accumulation of aberrant aggregates.
View Article and Find Full Text PDFIntraoral wear of PICN CAD-CAM composite restorations used in severe tooth wear treatment: 5-year results of a prospective clinical study using 3D profilometry.
Dent Mater
July 2024
Dental Biomaterials Research Unit (d-BRU), Institute of Dentistry, University of Liège (ULiège), Liège, Belgium; Department of Fixed Prosthodontics, Institute of Dentistry, University of Liège Hospital (CHU), Liège, Belgium. Electronic address:
Objectives: To evaluate, in a prospective clinical study over 5 years with ex vivo 3D profilometry analyses, the intraoral wear of Polymer-Infiltrated Ceramic Network (PICN) CAD-CAM composite restorations used in severe tooth wear treatment with the One-Step No-Prep technique.
Methods: 192 PICN (Vita Enamic) restorations on molars and premolars were included in a prospective clinical study involving patients treated according to the One-step No-prep protocol (n = 7). All patients showed clinical signs of bruxism.
Feeding difficulties in children with food allergies: An EAACI Task Force Report.
Pediatr Allergy Immunol
April 2024
National Heart and Lung Institute, Imperial College London, London, UK.
The term "feeding difficulties" refers to a spectrum of phenotypes characterized by suboptimal intake of food and/or lack of age-appropriate eating habits. While it is evident that feeding difficulties are prevalent within healthy children, no consensus has been reached for those with food allergies. The aim of this study was to systematically review all the available literature reporting the prevalence of feeding difficulties within food allergic children.
View Article and Find Full Text PDFMechanical thrombectomy in basilar artery occlusions: impact of first-line strategy as a function of the occlusion level.
J Neurointerv Surg
January 2025
Interventional Neuroradiology, NEURI Brain Vascular Center, Bicêtre Hospital, Le Kremlin-Bicêtre, France
Background: Retrospective studies suggest the superiority of first-line contact aspiration (CA) thrombectomy over stent-retriever (SR) in basilar artery occlusions (BAO). We aimed to investigate the impact of first-line mechanical thrombectomy per the occlusion level, considering differences in stroke etiology prevalence between proximal and distal BAO.
Methods: A retrospective, multicentric analysis of the Endovascular Treatment in Ischemic Stroke Registry (ETIS) included consecutive BAO patients treated from January 2016 to May 2022.
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