Results 61 to 70 of about 536,446 (168)

A Multidisciplinary Approach to the Anesthetic Management of Patients With Duchenne Muscular Dystrophy

Pediatric Pulmonology, Volume 61, Issue 10, October 2026.
ABSTRACT Duchenne muscular dystrophy (DMD) is an inherited neuromuscular disorder with multisystem involvement that causes progressive muscular weakness and cardiorespiratory dysfunction. The first comprehensive recommendations regarding anesthetic management are now almost 20 years old and, in the interval, DMD care has evolved.
Fabrizio Racca, Elena Conti, Giulia Racca, Luigi Barberis, David J. Birnkrant   +4 more
wiley   +1 more source

Kinetic and Mean‐Field Modeling of Muscular Dystrophies

Studies in Applied Mathematics, Volume 157, Issue 4, October 2026.
ABSTRACT We present a new class of models for assessing the cell dynamics characterizing muscular dystrophies. The proposed approach comprises a system of integro‐differential equations for the statistical distributions, over a large patient cohort, of the densities of muscle fibers and immune cells implicated in muscle inflammation, degeneration, and ...
Tommaso Lorenzi, Horacio Tettamanti, Mattia Zanella   +2 more
wiley   +1 more source

An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
A multidisciplinary strategy that integrates deep phenotyping with expert genetic interpretation substantially increases the likelihood of reaching a diagnosis in adults suspected of having an IMD. ABSTRACT Inherited metabolic disorders (IMDs) arise from defects in metabolic pathways essential for normal biochemical function.
Machteld M. Oud, Elise A. Ferreira, Clara D. M. van Karnebeek, Robin Wijngaard, Nicole I. Wolf, Marc Engelen, Mareen Datema, Sacha Ferdinandusse, André B. P. van Kuilenburg, Laura Steinbusch, Saskia N. van der Crabben, Mirjam Langeveld, on behalf of the ZOEMBA Study Group   +12 more
wiley   +1 more source

Serum Transaminase in Duchenne Dystrophy

Pediatric Neurology Briefs, 2011
Researchers at Children’s Hospital Boston, MA, have shown a linear relationship between serum CPK and serum ALT and AST and a logarithmic relationship between serum enzyme levels and age for boys with Duchenne (n=46) or Becker (n=9) muscular dystrophy ...
J Gordon Millichap
doaj   +1 more source

Outcome Measures in Facioscapulohumeral Muscular Dystrophy Clinical Trials

, 2022
Facioscapulohumeral muscular dystrophy (FSHD) is a debilitating muscular dystrophy with a variable age of onset, severity, and progression. While there is still no cure for this disease, progress towards FSHD therapies has accelerated since the ...
Emerson, Charles P. Jr., Hayward, Lawrence J., Ghasemi, Mehdi   +2 more
core   +1 more source

With Regard to the Expression Status of Sarcolemmal Aquaporin 4 in Human Muscular Dystrophies

Neurology and Clinical Neuroscience, Volume 14, Issue 5, Page 354-361, September 2026.
ABSTRACT Human muscular dystrophies are inherited muscle‐wasting diseases caused by the various kinds of gene mutations. Among them, Duchenne muscular dystrophy (DMD) is a representative type. Before the discovery of the causative dystrophin gene of DMD, the fragile myofiber plasma membrane was thought to be the trigger of myofiber necrosis in DMD ...
Yoshihiro Wakayama, Takahiro Jimi
wiley   +1 more source

Proteomic Profiling of Myofiber Repair Annexins and Their Role in Duchenne Muscular Dystrophy

PROTEOMICS, Volume 26, Issue 9, Page 6-23, September 2026.
ABSTRACT Myofiber regeneration and membrane repair play crucial roles in maintaining the continuous physiological functioning of the neuromuscular system. A swift and efficient repair mechanism enables the rapid restoration of sarcolemmal integrity following cellular impairment in damaged skeletal muscles.
Paul Dowling, Dounia Bouragba, Elisa Negroni, Capucine Trollet, Margit Zweyer, Dieter Swandulla, Kay Ohlendieck   +6 more
wiley   +1 more source

A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3 [PDF]

, 2011
Autism spectrum disorder is a genetically complex and clinically heterogeneous neurodevelopmental disorder. A recent study by the Autism Genome Project (AGP) used 1M single-nucleotide polymorphism arrays to show that rare genic copy number variants (CNVs)
Betancur, Catalina, Pinto, D., Scherer, SW, Yusuf, M., Volpi, Emanuela, Monaco, Anthony P, Anthony P. Monaco, Dalila Pinto, Wing, K., Volpi, Emanuela V, Yusuf, M, Holt, Richard, Volpi, Emanuela, V., Monaco, Anthony, Monaco, Anthony, P., Richard Holt, Wing, Kirsty, Alistair T. Pagnamenta, Holt, R., Scherer, Stephen, W., Pagnamenta, A.T., Mohammed Yusuf, Scherer, S.W., Holt, R, Catalina Betancur, Wing, K, Monaco, AP, Scherer, Stephen W, Pinto, Dalila, Pagnamenta, Alistair T, Betancur, C., Pagnamenta, AT, Volpi, EV, Betancur, C, Stephen W. Scherer, Emanuela V. Volpi, Pagnamenta, Alistair, T., Monaco, A.P., Volpi, E.V., Pinto, D, Yusuf, Mohammed, Kirsty Wing   +41 more
core   +1 more source

Identification of two previously unreported Duchenne muscular dystrophy gene variants in a patient diagnosed with a dystrophinopathy: a case report

Journal of Medical Case Reports
Introduction Duchenne muscular dystrophy and Becker muscular dystrophy are X-linked recessive disorders affecting muscle function, which are caused by mutations in the dystrophin gene (also known as the Duchenne muscular dystrophy gene).
Sarah Gerges, Rania Naoufal, Hicham Mansour   +2 more
doaj   +1 more source

Downstream Pathways of Dystrophin Deficiency in Duchenne Muscular Dystrophy: Implications for Muscle Degeneration and Regeneration

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 4, August 2026.
ABSTRACT Background Duchenne muscular dystrophy (DMD) is the most common and severe form of muscular dystrophy, primarily affecting skeletal muscle and leading to premature death. Although the loss of dystrophin has long been recognised as the primary cause of the disease, no definitive cure is currently available. As a consequence, therapeutic efforts
Raffaele Epis, Gabriele Rovetta, Giulia Ferrari, Chiara Bonfanti, Giorgia Careccia, Graziella Messina   +5 more
wiley   +1 more source