Results 111 to 120 of about 39,875 (271)

ST-segment elevation acute coronary syndrome in a child with Duchenne muscular dystrophy: a case report

Российский кардиологический журнал
Introduction. Duchenne muscular dystrophy is an X-linked muscle disorder caused by the dystrophin absence. This leads to the death of muscle cells and cardiomyocytes and their subsequent replacement with adipose and fibrous tissue.
Z. G. Tatarintseva, O. V. Babicheva, K. O. Barbuhatti   +2 more
doaj   +1 more source

J Child Neurol [PDF]

In this retrospective cohort study, we characterize the health profile of preterm males with Duchenne muscular dystrophy. Major clinical milestones (ambulation cessation, assisted ventilation use, and onset of left ventricular dysfunction) and ...

core  

Duchenne muscular dystrophy - disease characterization and emergent genetic therapy - literature review

Quality in Sport
Introduction The goals of this paper are to present the complexity of Duchenne muscular dystrophy phenotype, genetic background, and substantial progress that has been made due to the development of genetic engineering techniques in diagnosing and ...
Anna Teresa Michalska, Michał Świda, Cezary Kubuj, Grzegorz Adaśko, Urszula Mazur, Jakub Bazarewicz, Marcin Siwik, Daniel Dmowski, Paulina Ogonowska, Julia Waszak   +9 more
doaj   +1 more source

Quantitative Muscle MRI of the Lower Extremities Reveals Different Patterns of Involvement in Classic Infantile and Young Late‐Onset Pompe Patients

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT With increased survival due to enzyme replacement therapy, children with classic infantile Pompe disease tend to develop a clinical phenotype with pronounced distal muscle weakness, while late‐onset patients typically exhibit proximal muscle weakness.
Jan J. A. van den Dorpel, Mechteld E. Guldemond, Kevin R. Keene, Pieter A. van Doorn, Ans T. van der Ploeg, Johanna M. P. van den Hout, Hermien E. Kan, Nadine A. M. E. van der Beek   +7 more
wiley   +1 more source

Fat Embolism Syndrome in Duchenne Muscular Dystrophy Patients: Early Recognition and Aggressive Therapy

Case Reports in Critical Care, 2018
We describe two pediatric patients with Duchenne muscular dystrophy that presented with acute neurologic deterioration and hypoxic respiratory failure requiring mechanical ventilation.
Lee D. Murphy, Mouhammad Yabrodi, Riad Lutfi   +2 more
doaj   +1 more source

Asynchrony Related to Mechanical Ventilation Exacerbates Diaphragm Dysfunction in a Mouse Model of Duchenne Muscular Dystrophy

Muscle &Nerve, Volume 74, Issue 1, Page 255-264, July 2026.
ABSTRACT Introduction/Aims In dystrophic mice (mdx, a genetic homolog of Duchenne muscular dystrophy: DMD), previous studies showed that mechanical ventilation (MV) induces ventilator‐induced diaphragmatic dysfunction (VIDD). However, susceptibility to mechanical stress caused by asynchrony remains unknown.
Mohamad Yehya, Haikel Dridi, Eric Estève, Johan Moreau, Steven Reiken, Andrew R. Marks, Alain Lacampagne, Stefan Matecki   +7 more
wiley   +1 more source

Unraveling the spatial landscape of dystrophinopathies: a transcriptomic approach to Becker and Duchenne muscular dystrophies

The Journal of Pathology, Volume 269, Issue 3, Page 363-380, July 2026.
Abstract Dystrophinopathies are caused by pathogenic variants in the DMD gene, resulting in partial (Becker) or complete loss (Duchenne) of dystrophin. Becker (BMD) and Duchenne muscular dystrophy (DMD) are characterized by progressive muscle wasting, fatty replacement, fibrosis, and loss of function.
Laura GM Heezen, Qirong Mao, Stefan Nicolau, Claudio Novella Rausell, Julia van der Weerd, Jan Kueckelhaus, Rasya Gokul Nath, Jordi Diaz‐Manera, Hermien E Kan, Erik H Niks, Maaike van Putten, Annemieke Aartsma‐Rus, Kevin M Flanigan, Ahmed Mahfouz, Pietro Spitali   +14 more
wiley   +1 more source

Interpretation of "Diagnosis and management of Duchenne muscular dystrophy: a guide for families (2011 version)"

Chinese Journal of Contemporary Neurology and Neurosurgery, 2015
The guideline "Diagnosis and management of Duchenne muscular dystrophy" was supported by a 3-year-long project guided by US Centers for Disease Control and Prevention (CDC), in collaboration with patient advocacy groups [Muscular Dystrophy Association ...
Xi-hua LI
doaj  

Sperm Sexing in Selected Animals and Humans: Methods, Applications, and Future Prospects

Andrology, Volume 14, Issue 5, Page 1089-1101, July 2026.
ABSTRACT Background Sperm sexing is a technique that enables the selection of offspring sex by sorting spermatozoa based on their sex chromosomes. This technology has gained increasing attention due to its potential applications in both animal breeding and human‐assisted reproduction.
Domrazek Kinga, Jurka Piotr
wiley   +1 more source

Diaphragm‐specific effects of L‐citrulline in mdx mice highlight its potential as adjuvant of standard therapy in Duchenne muscular dystrophy

British Journal of Pharmacology, Volume 183, Issue 13, Page 3866-3884, July 2026.
Abstract Background and Purpose The absence of the protein dystrophin in Duchenne muscular dystrophy (DMD) leads to progressive muscle weakness, failing regeneration and deregulation of nitric oxide (NO) signalling. We focused on L‐citrulline, a precursor of L‐arginine, required for NO production in muscle, which is reduced in dystrophic mdx muscle ...
Lisamaura Tulimiero, Brigida Boccanegra, Paola Mantuano, Antonietta Mele, Michela De Bellis, Roberta Lenti, Francesca Sanarica, Santa Cirmi, Elena Conte, Ornella Cappellari, Amber E. Sherrard, Ardawna Green, Mira Srinivasa, Marta L. Fiorotto, Annamaria De Luca   +14 more
wiley   +1 more source