Article
Medicine, Research & Experimental
Cedric Happi Mbakam, Joel Rousseau, Yaoyao Lu, Anne Bigot, Kamel Mamchaoui, Vincent Mouly, Jacques P. Tremblay
Summary: In this study, researchers used CRISPR-Cas9 prime editing technology to correct a mutation in the DMD gene, resulting in improved editing efficiency and restoration of dystrophin protein expression. Optimization of the reverse transcription template sequence led to a significant increase in the editing percentage of the target nucleotide.
MOLECULAR THERAPY-NUCLEIC ACIDS
(2022)
Article
Clinical Neurology
Giulio Gadaleta, Guido Urbano, Chiara Brusa, Rossella D'Alessandro, Enrica Rolle, Ilaria Cavallina, Alessio Mattei, Fulvia Ribolla, Claudia Raineri, Stefano Pidello, Liliana Vercelli, Federica S. Ricci, Tiziana E. Mongini
Summary: The clinical characteristics of adults with DMD include mechanical ventilation, swallowing and nutritional issues, and bone density alterations. Other issues include respiratory infections, gastrointestinal symptoms, metabolic acidosis, psychiatric symptoms, and chronic pain. Patients have a negative perception of their physical health but a more positive assessment of their mental health.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Pharmacology & Pharmacy
Zeren Sun, Dengqiu Xu, Lei Zhao, Xihua Li, Sijia Li, Xiaofei Huang, Chunjie Li, Lixin Sun, Bing Liu, Zhenzhou Jiang, Luyong Zhang
Summary: The study found that fenofibrate can promote the differentiation of myofibers by down-regulating the expression of myostatin protein in myoblasts, significantly improving muscle function and reducing muscle damage in mdx mice, along with anti-inflammatory effects.
BRITISH JOURNAL OF PHARMACOLOGY
(2022)
Article
Clinical Neurology
Craig M. Zaidman, Crystal M. Proud, Craig M. Mcdonald, Kelly J. Lehman, Natalie L. Goedeker, Stefanie Mason, Alexander P. Murphy, Maitea Guridi, Shufang Wang, Carol Reid, Eddie Darton, Christoph Wandel, Sarah Lewis, Jyoti Malhotra, Danielle A. Griffin, Rachael A. Potter, Louise R. Rodino-Klapac, Jerry R. Mendell
Summary: The study ENDEAVOR demonstrated that the commercial process delandistrogene moxeparvovec is safe and effective in improving micro-dystrophin expression in patients with Duchenne muscular dystrophy. After 12 weeks of treatment, significant improvements were observed in micro-dystrophin expression, as well as patient's functional outcomes and quality of life at 1 year.
ANNALS OF NEUROLOGY
(2023)
Review
Cell Biology
Elisa Domi, Malvina Hoxha, Emanuela Prendi, Bruno Zappacosta
Summary: Duchenne muscular dystrophy is a muscular disease with no cure, and SIRT1 has been identified as a potential therapeutic target for the condition. Activation of SIRT1 improves muscle function, while its inhibition leads to muscle fragility.
Review
Biochemistry & Molecular Biology
Krzysztof Zablocki, Dariusz C. Gorecki
Summary: Muscular dystrophies are inherited neuromuscular diseases that cause progressive disability and can reduce life expectancy. Loss of dystrophin or mutations in sarcoglycan-encoding genes lead to the loss of a-sarcoglycan ecto-ATPase activity, disrupting purinergic signaling and causing chronic inflammation in dystrophic muscles. Over-activation of P2X7 purinoceptors exacerbates pathology in dystrophic muscle cells. Blocking P2X7 receptors has shown promising results in mouse models and should be considered for the treatment of muscular dystrophies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Physiology
Xia Dong, Tiankun Hui, Jie Chen, Zheng Yu, Dongyan Ren, Suqi Zou, Shunqi Wang, Erkang Fei, Huifeng Jiao, Xinsheng Lai
Summary: Metformin treatment improves muscle function and diminishes neuromuscular deficits in mdx mice, suggesting its potential use as a therapeutic drug in DMD patients.
FRONTIERS IN PHYSIOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Silvia Consalvi, Luca Tucciarone, Elisa Macri, Marco De Bardi, Mario Picozza, Illari Salvatori, Alessandra Renzini, Sergio Valente, Antonello Mai, Viviana Moresi, Pier Lorenzo Puri
Summary: Late-stage mdx FAPs exhibit abnormal HDAC activity and genome-wide alterations of histone acetylation that cannot be fully reversed by HDACi. HDACi show general resistance in inducing H3K9/14 hyperacetylation in late-stage mdx FAPs, but is effective in reducing promoter acetylation and blunting SASP gene activation.
Article
Multidisciplinary Sciences
Michael Ziemba, Molly Barkhouse, Kitipong Uaesoontrachoon, Mamta Giri, Yetrib Hathout, Utkarsh J. Dang, Heather Gordish-Dressman, Kanneboyina Nagaraju, Eric P. Hoffman
Summary: Duchenne muscular dystrophy is caused by dystrophin deficiency, leading to downstream pathophysiological pathways that drive disability. Dystrophin replacement strategies may trigger these pathways, so combination therapies targeting multiple downstream pathways are crucial. Blood biomarkers could be used to assess drug combinations for treating DMD in both mouse models and human studies.
Article
Clinical Neurology
Katharine C. Simon, Paola Malerba, Neal Nakra, Amy Harrison, Sara C. Mednick, Marni Nagel
Summary: This study measured slow oscillations in Duchenne and Becker muscular dystrophy male patients and found a significant decline in slow oscillation density with age. When patients were grouped by age, a decline in the rate and amplitude of slow oscillations was observed.
Article
Biochemistry & Molecular Biology
Yusuke Kawamura, Tetsuro Hida, Bisei Ohkawara, Masaki Matsushita, Takeshi Kobayashi, Shinya Ishizuka, Hideki Hiraiwa, Satoshi Tanaka, Mikito Tsushima, Hiroaki Nakashima, Kenyu Ito, Shiro Imagama, Mikako Ito, Akio Masuda, Naoki Ishiguro, Kinji Ohno
Summary: The anti-histamine drug meclozine promotes the proliferation and survival of human myogenic progenitor cells but inhibits myotube formation. In a mouse model of muscular dystrophy, meclozine improves muscle mass, exercise performance, and reduces ERK1/2 phosphorylation.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2022)
Article
Biochemistry & Molecular Biology
Elena Gargaun, Sestina Falcone, Guilhem Sole, Julien Durigneux, Andoni Urtizberea, Jean Marie Cuisset, Sofia Benkhelifa-Ziyyat, Laura Julien, Anne Boland, Florian Sandron, Vincent Meyer, Jean Francois Deleuze, David Salgado, Jean-Pierre Desvignes, Christophe Beroud, Anatole Chessel, Alexia Blesius, Martin Krahn, Nicolas Levy, France Leturcq, France Pietri-Rouxel
Summary: This study found that long noncoding RNAs play important roles in Duchenne and Becker muscular dystrophy, particularly in regulating myocyte proliferation and differentiation with potential therapeutic implications. The research suggests that lncRNA44s2 may serve as an accelerator in muscle differentiation process and is associated with a favorable clinical phenotype.
Review
Clinical Neurology
Carlos Pascual-Morena, Vicente Martinez-Vizcaino, Alicia Saz-Lara, Jose Francisco Lopez-Gil, Jaime Fernandez-Bravo-Rodrigo, Ivan Cavero-Redondo
Summary: Dystrophin alterations in Becker and Duchenne muscular dystrophies are associated with an increased risk of epilepsy. This study aimed to estimate the prevalence of epilepsy in BMD and DMD populations and explore the association between dystrophin gene mutation site and epilepsy risk. The results showed a higher prevalence of epilepsy in BMD and DMD populations compared to the general population, but no significant association was found between mutation site and epilepsy risk.
JOURNAL OF NEUROLOGY
(2022)
Article
Biochemistry & Molecular Biology
Anna Codina, Monica Roldan, Daniel Natera-de Benito, Carlos Ortez, Robert Planas, Leslie Matalonga, Daniel Cuadras, Laura Carrera, Jesica Exposito, Jesus Marquez, Cecilia Jimenez-Mallebrera, Josep M. Porta, Andres Nascimento, Cristina Jou
Summary: We developed a method for quantifying dystrophin in DMD and BMD patients using spectral confocal microscopy. The proposed methodology correctly classified patients according to their diagnosis and automated ROI selection. Spectral imaging could be implemented to measure dystrophin expression and pave the way for detailed analysis of its relation to the clinical course. Further studies could be done to understand the expression of dystrophin-associated protein complexes (DAPCs).
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Clinical Neurology
Patricia Soblechero-Martin, Andrea Lopez-Martinez, Laura de la Puente-Ovejero, Ainara Vallejo-Illarramendi, Virginia Arechavala-Gomeza
Summary: Utrophin is a paralogue of dystrophin that can be overexpressed in the absence of dystrophin and may act as a surrogate to compensate for its deficiency. Various strategies to overexpress utrophin are being investigated, with many compounds showing promising results in preclinical studies by modulating utrophin expression and ameliorating the disease phenotype in animal models.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
(2021)
Article
Clinical Neurology
Marta Kubacka, Annaelle Zietz, Sabine Schaedelin, Alexandros A. Polymeris, Lisa Hert, Johanna Lieb, Benjamin Wagner, David Seiffge, Christopher Traenka, Valerian L. Altersberger, Tolga Dittrich, Joachim Fladt, Urs Fisch, Sebastian Thilemann, Gian Marco De Marchis, Henrik Gensicke, Leo H. Bonati, Philippe Lyrer, Stefan T. Engelter, Nils Peters
Summary: Global cortical atrophy (GCA) is associated with the clinical prognosis of stroke patients with atrial fibrillation (AF) receiving oral anticoagulation.
CEREBROVASCULAR DISEASES
(2023)
Article
Neurosciences
Nicholas Sclavos, Pam Thomason, Elyse Passmore, Kerr Graham, Erich Rutz
Summary: Background: Gastrocsoleus lengthening (GSL) is a common surgical procedure for treating equinus deformity in ambulant children with cerebral palsy (CP). However, foot drop can still occur post-operatively. The study aimed to identify which children would develop persistent foot drop after GSL surgery for equinus and found that children with hemiplegia had a higher frequency of foot drop compared to children with diplegia. The study suggests the need for new management approaches for this important and unresolved problem.
Article
Cardiac & Cardiovascular Systems
Helena Aebersold, Miquel Serra-Burriel, Fabienne Foster-Wittassek, Giorgio Moschovitis, Stefanie Aeschbacher, Angelo Auricchio, Juerg Hans Beer, Eva Blozik, Leo H. Bonati, David Conen, Stefan Felder, Carola A. Huber, Michael Kuehne, Andreas Mueller, Jolanda Oberle, Rebecca E. Paladini, Tobias Reichlin, Nicolas Rodondi, Anne Springer, Annina Stauber, Christian Sticherling, Thomas D. Szucs, Stefan Osswald, Matthias Schwenkglenks
Summary: This study analyzed the long-term costs and associated factors of atrial fibrillation (AF). It identified three patient clusters and determined patient characteristics and cost trajectories related to cost allocation. These findings are important for stratification in clinical and economic studies.
Article
Respiratory System
Carmen Streibel, Corin C. Willers, Orso Pusterla, Grzegorz Bauman, Enno Stranzinger, Ben Brabandt, Oliver Bieri, Marion Curdy, Marina Bullo, Bettina Sarah Frauchiger, Insa Korten, Linn Krueger, Carmen Casaulta, Felix Ratjen, Philipp Latzin, Elisabeth Kieninger
Summary: This study aimed to evaluate the treatment effect of elexacaftor/tezacaftor/ivacaftor combination regimen on children with cystic fibrosis. The results showed significant improvements in lung function and structural and functional MRI parameters following ELX/TEZ/IVA treatment. The study suggests that functional and structural MRI, in addition to lung function tests, is a suitable tool for monitoring treatment response.
JOURNAL OF CYSTIC FIBROSIS
(2023)
Article
Clinical Neurology
Charidimos Tsagkas, Antal Huck-Horvath, Alessandro Cagol, Tanja Haas, Muhamed Barakovic, Michael Amann, Esther Ruberte, Lester Melie-Garcia, Matthias Weigel, Simon Pezold, Regina Schlaeger, Jens Kuhle, Till Sprenger, Ludwig Kappos, Oliver Bieri, Philippe Cattin, Cristina Granziera, Katrin Parmar
Summary: Spinal cord atrophy of the cervical anterior horn is clinically relevant in multiple sclerosis (MS) patients, particularly in progressive MS (PMS) patients and at the level of cervical SC enlargement.
MULTIPLE SCLEROSIS JOURNAL
(2023)
Article
Clinical Neurology
Charidimos Tsagkas, Antal Huck-Horvath, Alessandro Cagol, Tanja Haas, Michael Amann, Muhamed Barakovic, Esther Ruberte, Lester Melie-Garcia, Matthias Weigel, Simon Pezold, Regina Schlaeger, Jens Kuhle, Till Sprenger, Ludwig Kappos, Oliver Bieri, Philippe Cattin, Cristina Granziera, Katrin Parmar
Summary: This study investigated longitudinal changes of cervical spinal cord (cSC) gray and white matter areas in multiple sclerosis (MS) patients. The results showed that patients with clinical progression had a faster reduction of cSC areas over time compared to stable patients. Additionally, compared to patients without clinical progression and healthy controls, only patients with clinical progression demonstrated a preferential reduction of cSC and white matter areas at the level of cSC enlargement.
MULTIPLE SCLEROSIS AND RELATED DISORDERS
(2023)
Letter
Clinical Neurology
Kerr Graham, Erich Rutz, Pam Thomason, Kate Willoughby
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
(2023)
Article
Food Science & Technology
Reinald Brunner, Enrico De Pieri, Christian Wyss, Claudia Weidensteiner, Katrin Bracht-Schweizer, Jacqueline Romkes, Meritxell Garcia, Norine Ma, Erich Rutz
Summary: Local botulinum toxin (BTX-A, Botox (R)) injection is a standard treatment for overactive muscles in cerebral palsy patients. However, the effectiveness of BTX-A is reduced in older children, possibly due to limited muscle volume affected by the drug. This study found that injecting BTX-A into the muscles only affected 9-15% of the muscle volume, and had no significant impact on gait kinematics and kinetics. Multiple injection sites are recommended for better distribution of the drug.
Article
Respiratory System
Anne-Christianne Kentgens, Orso Pusterla, Grzegorz Bauman, Francesco Santini, Florian Wyler, Marion S. Curdy, C. Corin Willers, Oliver Bieri, Philipp Latzin, Kathryn A. Ramsey
Summary: This pilot study aimed to assess whether simultaneous measurements of modified nitrogen multiple-breath washout technique (MBW) and oxygen-enhanced magnetic resonance imaging (OE-MRI) are feasible. Testing on five healthy volunteers showed technical challenges and poor feasibility. However, both techniques were able to provide oxygen and nitrogen concentrations, as well as wash-in and washout maps, suggesting the potential to compare and visualize regional differences in ventilation underlying impaired MBW outcomes.
RESPIRATORY MEDICINE AND RESEARCH
(2023)
Article
Clinical Neurology
Simone J. A. Donners, Marjolijn L. Rots, Raechel J. Toorop, Aad van der Lugt, Leo H. Bonati, Gert J. de Borst
Summary: This study investigated the relationship between diffusion-weighted imaging (DWI) lesions after carotid artery revascularization and long-term cerebrovascular events. The results showed that DWI lesions following carotid revascularization did not seem to have a relationship with long-term stroke risk.
Article
Cardiac & Cardiovascular Systems
Fabienne Foster-Witassek, Helena Aebersold, Stefanie Aeschbacher, Peter Ammann, Juerg H. Beer, Eva Blozik, Leo H. Bonati, Mattia Cattaneo, Michael Coslovsky, Stefan Felder, Giorgio Moschovitis, Andreas Mueller, Seraina Netzer, Rebecca E. Paladini, Tobias Reichlin, Nicolas Rodondi, Annina Stauber, Christian Sticherling, Thomas Szucs, David Conen, Michael Kuehne, Stefan Osswald, Miquel Serra-Burriel, Matthias Schwenkglenks
Summary: In patients with atrial fibrillation (AF), health-related quality of life (HRQoL) remained stable over time, regardless of baseline patient characteristics. Clinical events such as hospitalization for heart failure, stroke, and bleeding had only a temporary effect on HRQoL.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2023)
Article
Orthopedics
Nora Ammann, Raphael Kaelin, Elias Ammann, Erich Rutz, Kathrin Studer, Victor Valdarrabano, Carlo Camathias
Summary: Most classification systems for lateral discoid meniscus do not evaluate the instability of the meniscal peripheral rim. This study aimed to evaluate the prevalence and location of peripheral rim instability in symptomatic lateral discoid meniscus, and investigate the risk factors for instability. The results showed a high prevalence and variable location of peripheral rim instability in the discoid lateral meniscus.
ARCHIVES OF ORTHOPAEDIC AND TRAUMA SURGERY
(2023)
Review
Medicine, General & Internal
Norine Ma, Daniel Gould, Carlo Camathias, Kerr Graham, Erich Rutz
Summary: Single-Event Multi-Level Surgery (SEMLS) is a complex surgical program used to improve gait and function in ambulant children with cerebral palsy. The utilization of SEMLS concept can reduce surgical events, hospital stays and rehabilitation requirements. A bibliometric analysis showed that the most productive institutions in this field are located in Melbourne, Australia.
MEDICINA-LITHUANIA
(2023)
Article
Orthopedics
Elias Ammann, Rahel L. Meier, Erich Rutz, Kathrin Studer, Victor Valderrabano, Carlo Camathias
Summary: This study found that adolescents with recurrent patellar dislocation have higher hip adduction angles and hip abduction moments during gait, suggesting impaired function of hip abductors as a contributing factor to patellar instability.
ARCHIVES OF ORTHOPAEDIC AND TRAUMA SURGERY
(2023)
Article
Orthopedics
Agnieszka Zachurzok, Johannes Mayr, Erich Rutz, Ryszard Tomaszewski
Summary: When determining the size of an ACL graft in children, factors such as bone age, age, gender, and height should be considered. ACL dimensions and the thickness of the growth plate cartilage vary with age and gender during puberty.
ARCHIVES OF ORTHOPAEDIC AND TRAUMA SURGERY
(2023)