This year we present three papers on recent advances in paediatrics from the fields of neonatology, adolescent medicine and Duchenne muscular dystrophy. 1. Recent studies question the application of pure oxygen for neonatal reanimation and suggest that lower concentrations or even air may be more adequate for the reanimation of most newborns. 2. Bullying is an aggressive, repetitive and intentionally blessing behaviour. It is observed mainly at school and the victims are usually children with a weak personality or children suffering from chronic diseases. The doctor's role is to detect this behaviour and to help protect the victims. 3. The respiratory surveillance of patients with Duchenne muscular dystrophy is the corner-stone of their management. An algorithm allows to time correctly the initiation of non-invasive ventilation and to insure as long as possible a good life quality.
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Delivery of genetic medicines for muscular dystrophies.
Cell Rep Med
December 2024
Laboratory of Precision Nanomedicine, The Shmunis School of Biomedicine and Cancer Research, George S. Wise Faculty of Life Sciences, Tel Aviv University, Tel-Aviv, Israel; Department of Materials Sciences and Engineering, Iby and Aladar Fleischman Faculty of Engineering, Tel Aviv University, Tel Aviv, Israel; Center for Nanoscience and Nanotechnology, Tel Aviv University, Tel Aviv, Israel; Cancer Biology Research Center, Tel Aviv University, Tel Aviv, Israel. Electronic address:
Muscular dystrophies are a group of heterogenic disorders characterized by progressive muscle weakness, the most common of them being Duchenne muscular dystrophy (DMD). Muscular dystrophies are caused by mutations in over 50 distinct genes, and many of them are caused by different genetic mechanisms. Currently, none of these diseases have a cure.
View Article and Find Full Text PDFAlthough current treatments for Duchenne Muscular Dystrophy (DMD) have proven to be effective in delaying myopathy, there remains a strong need to identify novel targets to develop additional therapies. Mitochondrial dysfunction is an early pathological feature of DMD. A fine balance of mitochondrial dynamics (fission and fusion) is crucial to maintain mitochondrial function and skeletal muscle health.
View Article and Find Full Text PDFCharacterization of Dystrophin Dp71 Expression and Interaction Partners in Embryonic Brain Development: Implications for Duchenne/Becker Muscular Dystrophy.
Mol Neurobiol
January 2025
Department of Pathology and Applied Neurobiology, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, 465 Kajii-Cho, Kawaramachi Hirokoji, Kamigyo-Ku, Kyoto, 602-8566, Japan.
Duchenne/Becker muscular dystrophy (DMD/BMD) manifests progressive muscular dystrophy and non-progressive central nervous disorder. The neural disorder is possibly caused by abnormalities in the developmental period; however, basic research to understand the mechanisms remains underdeveloped. The responsible gene, Dmd (dystrophin), generates multiple products derived from several gene promoters.
View Article and Find Full Text PDFClinical Profile and Pulmonary Function of Pediatric Patients with Duchenne Muscular Dystrophy at a Tertiary Government Hospital.
Acta Med Philipp
November 2024
Division of Pediatric Pulmonology, Department of Pediatrics, Philippine General Hospital, University of the Philippines Manila.
Objective: Our study aimed to determine the clinical profile and pulmonary function of pediatric patients with Duchenne Muscular Dystrophy (DMD). We also characterized the stages of progression of the disease and determined their potential association with spirometry variables.
Methods: In this cross-sectional study, we used data obtained from a review of medical records of all pediatric patients (0-18 years old) with DMD seen in a multidisciplinary neuromuscular clinic of a tertiary government hospital from August 2018 until March 2020.
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