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Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and Availability.
Neurol Clin Pract
February 2024
Department of Neurology (VDA, BR), Yale University School of Medicine, New Haven, CT; Department of Neurology (BTD), Boston Children's Hospital, MA; Department of Medicine (AAA), King Saud Bin Abdulaziz University for Health Sciences; Neuromuscular Integrated Practice Unit (AA), Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Pediatrics (NB), University of Zagreb Medical School, Croatia; Genetics and Genomic Medicine Division (TB-O), Sidra Medicine and Hamad Medical Corporation, Doha, Qatar; Department of Pediatrics (GB), Klinik Favoriten, Vienna, Austria; Department of Pediatrics (CC), Clínica Meds, Santiago, Chile; Department of Medical Genetics and Pediatrics (Y-HC), National Taiwan University Hospital, Taipei; Department of Neurology (MAF), Sydney Children's Hospital Network, New South Wales, Australia; Department of Paediatrics and Child Health (GK), College of Health Sciences, University of Zimbabwe, Harare; Department of Neurology (SK), Bombay Hospital, India; Department of Pediatrics (JM), University of Calgary Cumming School of Medicine, Alberta, Canada; John Walton Muscular Dystrophy Research Centre (CM-B), Newcastle University, Newcastle Upon Tyne, United Kingdom; Department of Child (DO), Adolescent, and Developmental Neurology, Children's Hospital, University Medical Centre Ljubljana, Slovenia; Department of Medical Genetics (GP), University of Calgary Cumming School of Medicine, Alberta, Canada; Neurometabolic Unit (FBP), University of Sao Paulo, Brazil; Department of Pediatrics (IPC), Hospital Universitari i Politècnic La Fe, Valencia, Spain; Child Neurology and ICU Department (SQ-R), Raymond Poincaré University Hospital (UVSQ), Garche, France; Institute of Medical Genetics (KS), Tokyo Women's Medical University, Japan; Department of Neurology (J-HS), Pusan National University Yangsan Hospital, South Korea; Neuromuscular Unit (JFV-C), Hospital Universitario y Politécnico la Fe, Valencia, Spain; Friedrich-Baur-Institute (MCW), Department of Neurology, Ludwig-Maximilians-University of Munich, Germany; Department of Paediatrics (JW), University of Colombo, Sri Lanka; Department of Pediatrics (HX), Peking University First Hospital, China; and Department of Neurology (RCG), University of Rochester Medical Center, NY.
Article Synopsis
- Spinal muscular atrophy (SMA) is a serious neurodegenerative disorder that has seen significant treatment advancements, allowing many patients to lead normal lives, particularly with therapies like Nusinersen, risdiplam, and onasemnogene abeparvovec-xioi now approved.
- A qualitative study surveyed healthcare providers in 21 countries to explore the availability and implementation of SMA treatments, revealing inconsistencies in drug access, newborn screening, and significant economic barriers to care.
- The findings emphasize the global inequalities in SMA management and highlight the need for expanded newborn screening to ensure better treatment access and address future challenges in genetic disease therapies.
Duration of type 2 diabetes does not appear to moderate hypoglycaemia rate with insulin degludec versus insulin glargine U100.
Diabetes Obes Metab
August 2021
Department of Medicine, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA.
In the DEVOTE and SWITCH 2 trials, insulin degludec 100 units/mL (degludec) was superior to insulin glargine 100 units/mL (glargine U100) with respect to the rates of severe (DEVOTE; across trial) and overall symptomatic (SWITCH 2; during the maintenance period of the trial) hypoglycaemia in individuals with type 2 diabetes. In this post hoc analysis, data from 7635 individuals from DEVOTE and 720 individuals from SWITCH 2 were analysed by subgroups of diabetes duration at baseline (<10, ≥10-<15, ≥15-<20 and ≥20 years) using prespecified models from both trials. There was a trend towards lower rates of hypoglycaemia with degludec versus glargine U100 across all diabetes duration subgroups in both trials, with the difference being statistically significant in some subgroups in DEVOTE and SWITCH 2.
View Article and Find Full Text PDFInvestigations of the Copper Peptide Hepcidin-25 by LC-MS/MS and NMR.
Int J Mol Sci
August 2018
Federal Institute for Materials Research and Testing (BAM), Division 1.5 Protein Analysis, Richard-Willstätter-Strasse 11, 12489 Berlin, Germany.
Hepcidin-25 was identified as the main iron regulator in the human body, and it by binds to the sole iron-exporter ferroportin. Studies showed that the N-terminus of hepcidin is responsible for this interaction, the same N-terminus that encompasses a small copper(II)-binding site known as the ATCUN (amino-terminal Cu(II)- and Ni(II)-binding) motif. Interestingly, this copper-binding property is largely ignored in most papers dealing with hepcidin-25.
View Article and Find Full Text PDFAnalysis of the molecular mobility of collagen and elastin in safe, atheromatous and aneurysmal aortas.
Pathol Biol (Paris)
February 2012
Physique des polymères, BAT 3R1B2, institut Carnot, CIRIMAT UMR 5085, université Paul-Sabatier, 118, route de Narbonne, 31062 Toulouse cedex 9, France.
Aim Of The Study: In this study, we propose to use a thermal technique, Differential Scanning Calorimetry (DSC) to follow the evolution of elastin and collagen in safe and pathological cardiovascular tissues.
Patients And Methods: The first part of this study deals with the analysis of the elastin network and associated proteins during ageing (from children to old persons) in aortic walls. The second part is devoted to the characterization of the collagenic phase in aneurysms.
Biomechanical factors in abdominal aortic aneurysm rupture.
Eur J Vasc Surg
November 1993
Dipartimento di Bioingegneria, Politecnico di Milano, Italy.
Hitherto the size of abdominal aortic aneurysms (AAA) has been considered the most important factor in determining the risk of rupture. For this reason most interest has been devoted to physical, echographic and tomographic analyses of the shape of AAA. However, it is known that rupture can also occur in small AAA.
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