Article
Veterinary Sciences
Sarah M. Schneider, Garett T. Sansom, Lee-Jae Guo, Shinji Furuya, Brad R. Weeks, Joe N. Kornegay
Summary: This study systematically assessed cardiac lesions in carrier dogs, GRMD dogs, and normal dogs, and found that quantitative analysis of the cross-sectional area of fibrosis can distinguish the health status of different groups of dogs. The features identified in GRMD dogs are compatible with those of DMD, validating GRMD as an effective model for studying cardiomyopathy.
FRONTIERS IN VETERINARY SCIENCE
(2022)
Review
Biochemistry & Molecular Biology
Ahyoung Lee, Jiwon Moon, Jin Yu, Changwon Kho
Summary: This review discusses the clinical significance of microRNAs as potential biomarkers and therapeutic targets for DMD and DMD cardiomyopathy as examples of dystrophinopathies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Geriatrics & Gerontology
Brenda L. Wong, Suzanne Summer, Paul S. Horn, Meilan M. Rutter, Irina Rybalsky, Cuixia Tian, Karen C. Shellenbarger, Heidi J. Kalkwarf
Summary: Mutations in the dystrophin gene result in varying clinical severity of DMD, and certain indices such as ALM and ALMI may serve as potential markers for evaluating the severity of the disease and informing clinical care decisions and trial designs.
JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE
(2023)
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)
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
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
Neurosciences
Siyi Gan, Shulei Liu, Haiyan Yang, Liwen Wu
Summary: This study analyzed clinical data of 150 patients diagnosed with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) in Hunan Children's Hospital, China. The study identified 150 small mutations, including 21 novel mutations. The analysis showed that positive family history, frameshift mutation, short duration of glucocorticoid (GC) treatment, and delayed GC treatment resulted in earlier loss of ambulation (LOA) for DMD patients. The findings provide important insights into the mutation spectrum of DMD/BMD and lay foundations for clinical trials.
FRONTIERS IN NEUROSCIENCE
(2022)
Article
Clinical Neurology
Hiroshi Yamaguchi, Hiroyuki Awano, Tetsushi Yamamoto, Yoshinori Nambu, Kazumoto Iijima
Summary: This study reveals that elevated serum levels of cTnI are more common and severe in DMD patients, suggesting it may represent an early phase of cardiomyopathy progression. The ACTN3 XX genotype may be a risk factor for early myocardial injury.
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
Genetics & Heredity
Mariko Okubo, Satoru Noguchi, Tomonari Awaya, Motoyasu Hosokawa, Nobue Tsukui, Megumu Ogawa, Shinichiro Hayashi, Hirofumi Komaki, Madoka Mori-Yoshimura, Yasushi Oya, Yuji Takahashi, Tetsuhiro Fukuyama, Michinori Funato, Yousuke Hosokawa, Satoru Kinoshita, Tsuyoshi Matsumura, Sadao Nakamura, Azusa Oshiro, Hiroshi Terashima, Tetsuro Nagasawa, Tatsuharu Sato, Yumi Shimada, Yasuko Tokita, Masatoshi Hagiwara, Katsuhisa Ogata, Ichizo Nishino
Summary: Dystrophinopathy is a disease caused by alterations in the DMD gene. In this study, a combined laboratory and computational analysis approach was used to identify disease-causing genomic variants and regulatory mechanisms underlying abnormal DMD transcript generation in genetically undiagnosed patients. Abnormal DMD transcripts were detected in the majority of cases, with exonization of intronic sequences, exon skipping, aberrant splicing, polyadenylation, and transcription termination identified as the underlying mechanisms. The findings of this study have important implications for therapeutic options for patients with Dystrophinopathy.
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
Biochemistry & Molecular Biology
Zsofia Onodi, Petra Lujza Szabo, Daniel Kucsera, Peter Pokreisz, Christopher Dostal, Karlheinz Hilber, Gavin Y. Oudit, Bruno K. Podesser, Peter Ferdinandy, Zoltan V. Varga, Attila Kiss
Summary: Duchenne muscular dystrophy (DMD) is a muscle wasting disease characterized by difficulty moving and premature death, mainly due to heart failure. Inflammation is thought to play a role in the disease progression, but the specific mechanisms are not well understood.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Clinical Neurology
Volker Straub, Michela Guglieri
Summary: The purpose of this review is to summarize the recent developments in trial readiness, natural history studies, and interventional clinical trials for Becker muscular dystrophy (BMD). It is found that BMD has become the focus of clinical research as several treatment concepts claim to convert patients with Duchenne muscular dystrophy (DMD) into a BMD phenotype. Despite efforts to improve trial readiness and advances in diagnostics, there is still a lack of long-term natural history data, making the broad spectrum of disease severity a challenge for well designed clinical trials.
CURRENT OPINION IN NEUROLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Raphael Porcher, Isabelle Desguerre, Helge Amthor, Brigitte Chabrol, Frederique Audic, Francois Rivier, Arnaud Isapof, Vincent Tiffreau, Emmanuelle Campana-Salort, France Leturcq, Sylvie Tuffery-Giraud, Rabah Ben Yaou, Djillali Annane, Pascal Amedro, Christine Barnerias, Henri Marc Becane, Anthony Behin, Damien Bonnet, Guillaume Bassez, Mireille Cossee, Gregoire de La Villeon, Claire Delcourte, Abdallah Fayssoil, Bertand Fontaine, Francois Godart, Sophie Guillaumont, Emmanuelle Jaillette, Pascal Laforet, Sarah Leonard-Louis, Frederic Lofaso, Michele Mayer, Raul Juntas Morales, Christophe Meune, David Orlikowski, Caroline Ovaert, Helene Prigent, Malika Saadi, Maximilien Sochala, Celine Tard, Guy Vaksmann, Ulrike Walther-Louvier, Bruno Eymard, Tanya Stojkovic, Philippe Ravaud, Denis Duboc, Karim Wahbi
Summary: Prophylactic ACEi treatment in patients with Duchenne muscular dystrophy is associated with significantly higher overall survival and lower rates of hospitalization for heart failure.
EUROPEAN HEART JOURNAL
(2021)
Review
Orthopedics
Nader Salari, Behnaz Fatahi, Elahe Valipour, Mohsen Kazeminia, Reza Fatahian, Aliakbar Kiaei, Shamarina Shohaimi, Masoud Mohammadi
Summary: This study conducted a systematic review and meta-analysis to determine the global prevalence of DMD and BMD muscular dystrophies. The global prevalence was estimated to be 3.6 per 100,000 people, with the highest prevalence in the Americas. The study emphasizes the importance of prenatal screening and genetic counseling for families with a positive history to prevent the occurrence of genetic disorders.
JOURNAL OF ORTHOPAEDIC SURGERY AND RESEARCH
(2022)
Article
Obstetrics & Gynecology
Michael Kochan, Bianca Leonardi, Angela Firestine, Jacob McPadden, Danielle Cobb, Tushar A. Shah, Turaj Vazifedan, W. Thomas Bass
JOURNAL OF PERINATOLOGY
(2019)
Article
Pediatrics
Justin B. Jin, John C. Carter, Daniel W. Sheehan, David J. Birnkrant
PEDIATRIC PULMONOLOGY
(2019)
Editorial Material
Pediatrics
Leanne M. Ward, David J. Birnkrant
Article
Pediatrics
Garey Noritz, James Naprawa, Susan D. Apkon, Kathi Kinnett, Fabrizio Racca, Elizabeth Vroom, David J. Birnkrant
Review
Pediatrics
William A. Gower, David J. Birnkrant, Jane B. Black, Terry L. Noah
PEDIATRIC PULMONOLOGY
(2019)
Article
Pediatrics
Kristen L. Benninger, Terrie E. Inder, Amy M. Goodman, C. Michael Cotten, Douglas R. Nordli, Tushar A. Shah, James C. Slaughter, Nathalie L. Maitre
Summary: The next phase of clinical trials in neonatal encephalopathy focuses on hypothermia adjuvant therapies targeting alternative recovery mechanisms during hypoxic brain injury. Innovative trial designs and a combination of biomarkers can help identify infants in need of treatment and select the most appropriate therapeutic approaches. Early neuroimaging can assist in identifying the acute nature of the injury and evaluating its evolution, while new trial designs and neurodevelopmental evaluations can address common challenges in NE clinical trials and expedite the selection of promising therapies.
PEDIATRIC RESEARCH
(2021)
Review
Pediatrics
David J. Birnkrant, Jane B. Black
PEDIATRIC PULMONOLOGY
(2020)
Article
Pediatrics
David J. Birnkrant, John C. Carter
Summary: Neuromuscular respiratory medicine has traditionally focused on assisted lung ventilation and mucus clearance, but is evolving towards molecular and genetic therapies. The correlation between a patient's dystrophin mutation and cardiopulmonary phenotype is important for prognosis prediction and therapy design, but is complicated by genetic modifiers causing variability and discordance in phenotypes. Prioritizing cardiac therapies and understanding cardiopulmonary genetic modifiers are crucial for creating new DMD therapies and improving patient survival.
PEDIATRIC PULMONOLOGY
(2021)
Editorial Material
Pediatrics
David J. Birnkrant, Linda H. Cripe
PEDIATRIC PULMONOLOGY
(2021)
Article
Neurosciences
Tushar A. Shah, Haree K. Pallera, Cortney L. Kaszowski, William Thomas Bass, Frank A. Lattanzio
Summary: The study investigated the impact of therapeutic hypothermia on complement effector expression in neonatal hypoxic-ischemic encephalopathy, finding that hypothermia treatment reduced the expression of C1q, C5a, C3, and C9 in neurons and glia, as well as exhibiting variable effects on cytokines, potentially enhancing neuroprotection.
FRONTIERS IN NEUROSCIENCE
(2021)
Article
Obstetrics & Gynecology
Angelina June, Timothy Heck, Tushar A. Shah, Turaj Vazifedan, William Thomas Bass
Summary: This study aimed to determine the degree of progressive posthemorrhagic ventricular dilatation (PHVD) associated with a significant decrease in regional cerebral oxygen saturation (rScO (2)) in premature infants at risk for periventricular-intraventricular hemorrhage (PIVH). The results showed that FOHR greater than 0.55 in the severe PIVH group was associated with decreases in rScO (2) at 1, 4, and 8 weeks of age. The combination of rScO (2) and FOHR measurements may be useful in identifying infants with PHVD who would benefit from early intervention.
AMERICAN JOURNAL OF PERINATOLOGY
(2023)
Editorial Material
Respiratory System
David J. Birnkrant, John C. Carter
Editorial Material
Pediatrics
David J. Birnkrant, Jane B. Black, John C. Carter
PEDIATRIC PULMONOLOGY
(2023)
Article
Medicine, General & Internal
Kayla Durkin Petkus, Garey Noritz, Laurie Glader
Summary: Sialorrhea is a common problem in children with neurodevelopmental disabilities, and this study investigates the use of sublingual atropine (SLA) as a potential treatment. The study found varying prescribing patterns and highlights the need for further research and evidence to support its safe and effective use.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Critical Care Medicine
David J. Birnkrant, Luca Bello, Russell J. Butterfield, John C. Carter, Linda H. Cripe, Timothy P. Cripe, Douglas A. McKim, Deipanjan Nandi, Elena Pegoraro
Summary: This article discusses new therapies for Duchenne muscular dystrophy (DMD), highlighting the limitations of current research and proposing strategies to incorporate cardiorespiratory assessments into clinical trials. The study also explores the potential of genetic modifiers in predicting the natural history of cardiorespiratory function and as a therapeutic strategy, while examining the changing roles of respiratory physicians, cardiologists, and intensive care clinicians in this field.
LANCET RESPIRATORY MEDICINE
(2022)
