1. In DMD patients the effect of chronic treatment with verapamil was investigated in the p-nitrophenylphosphatase from erythrocytes, the CK and LDH in serum and the functional activity of the muscle. 2. A different behaviour in the p-nitrophenylphosphatase from untreated compared to treated DMD patients and controls is supported by the following findings: (a) values of "n" altered in F- inhibition of the enzyme with Hill coefficients -1.43, -2.18 and -2.19; (b) Arrhenius plots between 16 and 40 degrees C with inflection points for the enzyme from treated DMD patients and controls and not from untreated DMD patients. 3. Although CK and LDH in serum and the muscular evaluation showed no statistical difference between both groups, evidence is presented that in treated DMD patients the interaction membrane-enzyme is different from untreated DMD patients.
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http://dx.doi.org/10.1016/0306-3623(90)90459-y | DOI Listing |
BMC Musculoskelet Disord
January 2025
Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, 18 Daoshan Road, Fuzhou, 350001, China.
Background: Congenital muscular dystrophies (CMDs) and myopathies (CMYOs) are a clinically and genetically heterogeneous group of neuromuscular disorders that share common features, such as muscle weakness, hypotonia, characteristic changes on muscle biopsy and motor retardation. In this study, we recruited eleven families with early-onset neuromuscular disorders in China, aimed to clarify the underlying genetic etiology.
Methods: Essential clinical tests, such as biomedical examination, electromyography and muscle biopsy, were applied to evaluate patient phenotypes.
J Oral Maxillofac Surg
December 2024
Corresponding Member of the Faculty, Harvard School of Dental Medicine, and Visiting Surgeon, Oral and Maxillofacial Surgery, Massachusetts General Hospital, Boston, MA. Electronic address:
Background: Many oral and maxillofacial surgery patients are young, healthy adults who are opioid-naïve. Over-prescribing opioids increases the risk of subsequent misuse and diversion.
Purpose: The purpose of this study was to measure and compare opioid prescriptions to opioid naïve and nonnaïve patients by oral and maxillofacial surgeons in Massachusetts from 2012 to 2022.
Neuropediatrics
January 2025
Department of Pediatric Cardiology, University of Health Sciences, Tepecik Training and Research Hospital, Izmir, Turkey.
Aim: Duchenne muscular dystrophy (DMD) is the most frequently seen muscular disease in childhood. Cardiac involvement is extremely important in terms of morbidity and mortality in these patients. Different studies have shown that mutations occurring in various exons are cardioprotective or increase cardiac involvement in DMD cases.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Institute of Gene Biology, Russian Academy of Sciences, 119334 Moscow, Russia.
Duchenne muscular dystrophy (DMD) is a severe X-linked genetic disorder caused by an array of mutations in the dystrophin gene, with the most commonly mutated regions being exons 48-55. One of the several existing approaches to treat DMD is gene therapy, based on alternative splicing and mutant exon skipping. Testing of such therapy requires animal models that carry mutations homologous to those found in human patients.
View Article and Find Full Text PDFCell Rep Med
December 2024
Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo 187-8502, Japan. Electronic address:
Duchenne muscular dystrophy (DMD) is a severe muscle disorder caused by mutations in the DMD gene, leading to dystrophin deficiency. Antisense oligonucleotide (ASO)-mediated exon skipping offers potential by partially restoring dystrophin, though current therapies remain mutation specific with limited efficacy. To overcome those limitations, we developed brogidirsen, a dual-targeting ASO composed of two directly connected 12-mer sequences targeting exon 44 using phosphorodiamidate morpholino oligomers.
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