Article
Clinical Neurology
Aisha M. Sheikh, Karen Rudolf, Josefine de Stricker Borch, Tahmina Khawajazada, Nanna Witting, John Vissing
Summary: This study found that patients with Becker muscular dystrophy have higher fat fraction in their paraspinal muscles and lower muscle strength, especially in back extension, compared to healthy controls. Additionally, fat fraction of the paraspinal muscles correlates with fat fraction of thigh and lower leg muscles.
FRONTIERS IN NEUROLOGY
(2021)
Article
Clinical Neurology
Aisha M. Sheikh, Karen Rudolf, Nanna Witting, John Vissing
Summary: The study found an increase in muscle fat fraction in patients with Becker muscular dystrophy, while muscle strength remained stable in the short term, indicating that MRI could be a strong biomarker for changes in BMD.
FRONTIERS IN NEUROLOGY
(2021)
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
Andrea Barp, Elena Carraro, Giovanni Goggi, Andrea Lizio, Alice Zanolini, Carmelo Messina, Silvia Perego, Chiara Verdelli, Giovanni Lombardi, Valeria Ada Sansone, Sabrina Corbetta
Summary: This study analyzed body composition and myokine levels in BMD patients and investigated the association between DXA parameters, functional motor assessments, and myokine levels. The results showed that DXA is a useful tool for evaluating body composition in BMD patients, and the decrease in bone density and lean body mass is associated with a reduction in motor function in BMD.
Article
Geriatrics & Gerontology
Christopher R. Heier, Nikki M. McCormack, Christopher B. Tully, James S. Novak, Breanne L. Newell-Stamper, Alan J. Russell, Alyson A. Fiorillo
Summary: Becker muscular dystrophy (BMD) is a genetic neuromuscular disease caused by mutations in the dystrophin gene. Unlike Duchenne muscular dystrophy, BMD is less severe. However, there is a lack of research and treatment options for BMD, partly due to the absence of a mouse model.
JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE
(2023)
Article
Geriatrics & Gerontology
Donnie Cameron, Tooba Abbassi-Daloii, Laura G. M. Heezen, Nienke M. van de Velde, Zaida Koeks, Thom T. J. Veeger, Melissa T. Hooijmans, Salma el Abdellaoui, Sjoerd G. van Duinen, Jan J. G. M. Verschuuren, Maaike van Putten, Annemieke Aartsma-Rus, Vered Raz, Pietro Spitali, Erik H. Niks, Hermien E. Kan
Summary: This study used DT-MRI to compare muscle fiber diameter between BMD patients and healthy controls and found that BMD patients had significantly larger muscle fiber diameter. The results of DT-MRI were consistent with histology, suggesting that it can be used as an imaging biomarker for muscular dystrophies without the need for invasive biopsies.
JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE
(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
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
Cell Biology
Delia Gagliardi, Mafalda Rizzuti, Roberta Brusa, Michela Ripolone, Simona Zanotti, Elisa Minuti, Valeria Parente, Laura Dioni, Sara Cazzaniga, Paolo Bettica, Nereo Bresolin, Giacomo Pietro Comi, Stefania Corti, Francesca Magri, Daniele Velardo
Summary: This study analyzed the expression levels of a group of muscle miRNAs in the serum of BMD patients and found a significant upregulation of several miRNAs. The results suggest that these miRNAs can provide insights into disease progression and serve as noninvasive biomarkers, with miR-133b potentially being a prognostic marker for BMD patients.
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE
(2022)
Article
Neurosciences
Michela Ripolone, Daniele Velardo, Stefania Mondello, Simona Zanotti, Francesca Magri, Elisa Minuti, Sara Cazzaniga, Francesco Fortunato, Patrizia Ciscato, Francesca Tiberio, Monica Sciacco, Maurizio Moggio, Paolo Bettica, Giacomo P. Comi
Summary: This study analyzed the histopathological characteristics of muscle biopsies in a large cohort of BMD patients and correlated them with functional impairment. The accurate quantification of fibroadipose tissue replacement and the identification of other histopathological aspects that correlate well with clinical performances were the most notable findings. These findings help improve our understanding of the histopathological progression of BMD.
ACTA NEUROPATHOLOGICA COMMUNICATIONS
(2022)
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)
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
Cell Biology
Jiqing Zheng, Jing Lou, Yanfang Li, Panting Qian, Wei He, Yingxue Hao, Ting Xue, Yangxin Li, Yao-Hua Song
Summary: Misregulation of satellite cell fate and function influences the severity of DMD. CIPC is a negative regulator of satellite cell function, and its deficiency promotes muscle regeneration.
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
Genetics & Heredity
Megan A. Waldrop, Steven A. Moore, Katherine D. Mathews, Benjamin W. Darbro, Livja Medne, Richard Finkel, Anne M. Connolly, Thomas O. Crawford, Daniel Drachman, Nicolas Wein, Ali A. Habib, Monika A. Krzesniak-Swinarska, Craig M. Zaidman, James J. Collins, Manu Jokela, Bjarne Udd, John W. Day, Gloria Ortiz-Guerrero, Jeff Statland, Russell J. Butterfield, Diane M. Dunn, Robert B. Weiss, Kevin M. Flanigan
Summary: Deep intronic DMD mutations can be identified through muscle RNA analysis, which is an important diagnostic step for patients with abnormal dystrophin expression but negative genomic testing results. This study identified three types of pathogenic pseudoexon mutations and proposed potential treatment approaches based on the mutation type.
Article
Cardiac & Cardiovascular Systems
Barry J. Byrne, Steven D. Colan, Priya S. Kishnani, Meredith C. Foster, Susan E. Sparks, James B. Gibson, Kristina An Haack, David W. Stockton, Loren D. M. Pena, Si Houn Hahn, Judith Johnson, Pranoot X. Tanpaiboon, Nancy D. Leslie, David Kronn, Richard E. Hillman, Raymond Y. Wang
Summary: Pompe disease, caused by lysosomal acid alpha-glucosidase deficiency, leads to cardiomyopathy. Cardiac assessment is crucial for diagnosis and management. Results from the ADVANCE study show improvement in cardiac issues in Pompe disease patients after treatment with alglucosidase alpha.
CARDIOLOGY IN THE YOUNG
(2022)
Article
Orthopedics
Joshua A. Parry, Michael M. Hadeed, Nicholas J. Tucker, Katya E. Strage, Bryan L. Scott, Stephen C. Stacey, Austin Heare, Cyril Mauffrey
Summary: A study on patients with minimally displaced LC1 pelvic injuries revealed that LSR displacement is associated with delayed operative fixation, difficulty mobilizing due to pain, longer hospital stays, and opioid use.
JOURNAL OF ORTHOPAEDIC TRAUMA
(2022)
Editorial Material
Biotechnology & Applied Microbiology
Wuh-Liang Hwu, Shin-ichi Muramatsu, Yin-Hsiu Chien, Barry J. Byrne
Article
Biotechnology & Applied Microbiology
Chun-Hwei Tai, Ni-Chung Lee, Yin-Hsiu Chien, Barry J. Byrne, Shin-Ichi Muramatsu, Sheng-Hong Tseng, Wuh-Liang Hwu
Summary: Gene therapy with eladocagene exuparvovec in patients with aromatic L-amino acid decarboxylase deficiency leads to sustained and meaningful benefits, including improvements in motor and cognitive function, increased dopamine production, symptom relief, improved growth, and enhanced quality of life for patients and caregivers.
Article
Cardiac & Cardiovascular Systems
Shahryar Chowdhury, Lanier Jackson, Barry J. Byrne, Randall M. Bryant, W. Todd Cade, Tammy Lane Churchill, Julia Buchanan, Carolyn Taylor
Summary: Barth Syndrome is a mitochondrial cardioskeletal myopathy caused by gene defects, resulting in cardiomyopathy, muscle weakness, and exercise intolerance. This study identified cardiac risk factors that predict outcomes in Barth Syndrome, such as cardiac size, function, and QTc interval. Patients with worse cardiac manifestations and multiple risk factors are more likely to experience cardiac death or transplant. Close monitoring and intense therapy are needed for patients with progressive LV enlargement, dysfunction, and multiple cardiac risk factors.
PEDIATRIC CARDIOLOGY
(2022)
Article
Medicine, Research & Experimental
Prasad D. Trivedi, Chenghui Yu, Payel Chaudhuri, Evan J. Johnson, Tina Caton, Laura Adamson, Barry J. Byrne, Nicole K. Paulk, Nathalie Clement
Summary: The study optimized and compared the production of rAAV in suspension HEK293 cells by PEI-mediated transfection and HSV infection. The HSV production system yielded higher rAAV titers and full capsid percentages, but contained detectable levels of HSV DNA. The potency of rAAV stocks produced by both methods was found to be identical.
MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT
(2022)
Article
Cardiac & Cardiovascular Systems
Abhinandan Batra, Alison M. Barnard, Donovan J. Lott, Rebecca J. Willcocks, Sean C. Forbes, Saptarshi Chakraborty, Michael J. Daniels, Jannik Arbogast, William Triplett, Erik K. Henricson, Jonathan G. Dayan, Carsten Schmalfuss, Lee Sweeney, Barry J. Byrne, Craig M. McDonald, Krista Vandenborne, Glenn A. Walter
Summary: This study aimed to determine the rate of progressive decline in left ventricular function in DMD patients and identify early biomarkers of cardiac dysfunction. The findings revealed that DMD patients had worse left ventricular strain and it progressively declined over time. The use of cardioprotective drugs showed a positive impact on cardiac measures.
BMC CARDIOVASCULAR DISORDERS
(2022)
Article
Endocrinology & Metabolism
Emily H. Reeve, Elise K. Kronquist, Julia R. Wolf, Byron Lee, Aleena Khurana, Hanson Pham, Abigail E. Cullen, Jessica A. Peterson, Antonio Meza, R. Colton Bramwell, Laura Villasana, Daniel R. Machin, Grant D. Henson, Ashley E. Walker
Summary: Treatment with pyridoxamine can prevent age-related increases in blood pressure, reduce large artery stiffness, preserve cerebral artery function, and partially preserve cognitive function in old mice.
JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM
(2023)
Article
Orthopedics
Nicholas J. Tucker, Bryan L. Scott, Austin Heare, Stephen C. Stacey, Cyril Mauffrey, Joshua A. Parry
Summary: Comparison of hospital course in patients with minimally displaced lateral compression type 1 injuries before and after implementation of lateral stress radiographs (LSRs) showed that implementing an LSR protocol increased the rate of operative management, improved physical therapy clearance by discharge, and reduced the number of patients discharging to rehabilitation facilities.
JOURNAL OF ORTHOPAEDIC TRAUMA
(2023)
Article
Geriatrics & Gerontology
Nick R. Winder, Emily H. Reeve, Elise K. Kronquist, Aleena Khurana, Byron Lee, Thuan Nguyen, Grant D. Henson, Ashley E. Walker
Summary: One hallmark of vascular aging is increased pulse pressure. This study investigated the effects of age on the cerebral artery response to pulse pressure and found that acute exposure to high pulse pressure impaired endothelium-dependent dilation in young, but not old mice. The stiffness of cerebral arteries in old mice potentially protected against the negative consequences of high pulse pressure.
EXPERIMENTAL GERONTOLOGY
(2023)
Review
Biochemistry & Molecular Biology
Kia H. Markussen, Manuela Corti, Barry J. Byrne, Craig W. Vander Kooi, Ramon C. Sun, Matthew S. Gentry
Summary: This review discusses the primary role of glycogen in carbohydrate storage and energy metabolism in the liver and muscle, as well as its critical metabolic and non-metabolic roles in the brain. Perturbed glycogen functions are observed in various brain disorders, including neurological glycogen storage diseases. The study of glycogen and its treatment strategies is of great significance for human diseases.
JOURNAL OF NEUROCHEMISTRY
(2023)
Article
Orthopedics
Nicholas J. Tucker, Michele Nardi, Roberto F. Herrera, Bryan L. Scott, Austin Heare, Stephen C. Stacey, Joshua A. Parry, Cyril Mauffrey
Summary: This study describes a percutaneous pelvic fixation model and evaluates its translational validity among orthopedic trauma surgeons. The importance of specific criteria for effective competency-based assessment of pelvic fixation techniques is also investigated.
EUROPEAN JOURNAL OF ORTHOPAEDIC SURGERY AND TRAUMATOLOGY
(2023)
Article
Orthopedics
Nicholas J. Tucker, Bryan L. Scott, Austin Heare, Stephen C. Stacey, Cyril Mauffrey, Joshua A. Parry
Summary: The purpose of this study was to evaluate the impact of rami comminution and subsequent operative vs. nonoperative management on the late displacement of LC1 injuries. The study found that late fracture displacement was lower in the comminuted rami/operative group compared to the comminuted rami/nonoperative group.
EUROPEAN JOURNAL OF ORTHOPAEDIC SURGERY AND TRAUMATOLOGY
(2023)
Article
Critical Care Medicine
Ashley E. Walker, Jazmin A. Cole, Sahana Krishna Kumaran, Jonathan I. Kato, Xinhao Zhuang, Julia R. Wolf, Grant D. Henson, Belinda H. McCully
Summary: Obesity increases the risk of complications and mortality after trauma, which are associated with vascular damage. The impact of obesity on vascular dysfunction after traumatic hemorrhage is unclear. This study suggests that obesity may potentiate trauma-induced vascular inflammation and dysfunction.
Article
Orthopedics
Nicholas J. Tucker, Bryan L. Scott, Austin Heare, Stephen C. Stacey, Cyril Mauffrey, Joshua A. Parry
Summary: The study examined the effect of rotation and tilt on the radiographic teardrop distance on pelvis X-rays and found that the teardrop distance is minimally affected by rotation and tilt, showing a correlation with rotation and tilt distances.
EUROPEAN JOURNAL OF ORTHOPAEDIC SURGERY AND TRAUMATOLOGY
(2023)