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
Pharmacology & Pharmacy
Anna Stocco, Natalia Smolina, Patrizia Sabatelli, Justina Sileikyte, Edoardo Artusi, Vincent Mouly, Michael Cohen, Michael Forte, Marco Schiavone, Paolo Bernardi
Summary: High-throughput screening identified isoxazoles as potent but metabolically unstable inhibitors of the mitochondrial permeability transition pore (PTP). We studied the effects of a metabolically stable triazole analog, TR001, which leads to recovery of muscle structure and function of sapje zebrafish, a severe model of Duchenne muscular dystrophy (DMD). PTP inhibition fully restores respiration and improves survival rates, providing a potential treatment option for DMD patients.
PHARMACOLOGICAL RESEARCH
(2021)
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)
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)
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.
Article
Clinical Neurology
Shiny Thomas, Kristin M. Conway, Olushola Fapo, Natalie Street, Katherine D. Mathews, Joshua R. Mann, Paul A. Romitti, Aida Soim, Christina Westfield, Deborah J. Fox, Emma Ciafaloni
Summary: This study aimed to assess the time to diagnosis for Duchenne muscular dystrophy (DMD) and found that the interval between the first signs of DMD and diagnosis remains unchanged, resulting in missed opportunities.
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
Multidisciplinary Sciences
Asuka Eguchi, Adriana Fernanda G. S. Gonzalez, Sofia I. Torres-Bigio, Kassie Koleckar, Foster Birnbaum, Joe Z. Zhang, Vicky Y. Wang, Joseph C. Wu, Steven E. Artandi, Helen M. Blau
Summary: Duchenne muscular dystrophy (DMD) is a severe muscle wasting disease caused by the lack of dystrophin. Heart failure is the main cause of death in DMD patients. Previous studies have shown that telomere shortening is a characteristic of DMD cardiomyocytes. This study aims to investigate whether preventing telomere attrition is possible in patient-derived induced pluripotent stem cell differentiated cardiomyocytes (iPSC-CMs) and whether preventing telomere shortening affects cardiomyocyte function.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2023)
Article
Genetics & Heredity
Amihood Singer, Annemieke Aartsma-Rus, Julia Grinshpun-Cohen, Lena Sagi-Dain
Summary: The study summarizes the results of the first year of implementation of pan-ethnic screening testing for Duchenne muscular dystrophy (DMD) and discusses the challenges that follow. The study found clinically significant results in 82 cases, uncertain clinical significance in 80 cases, and false positive results in 373 cases initially identified as single-exon deletions. Interpreting population-based DMD carrier screening requires additional genetic testing methods and ethical considerations.
GENETICS IN MEDICINE
(2023)
Article
Nutrition & Dietetics
Natassja Billich, Justine Adams, Kate Carroll, Helen Truby, Maureen Evans, Monique M. Ryan, Zoe E. Davidson
Summary: DMD patients, especially young people, have a high prevalence of obesity, which may negatively affect clinical outcomes, including an increased risk of fractures and OSA, as well as potential impacts on physical function milestones. Early weight management interventions are therefore crucial in this population.
Article
Clinical Neurology
Russell J. Butterfield, Sergey Kirkov, Kristin M. Conway, Nicholas Johnson, Dennis Matthews, Han Phan, Bo Cai, Pangaja Paramsothy, Shiny Thomas, Marcia L. Feldkamp
Summary: This study found no association between corticosteroid use after LOA and the onset of abnormal LV function, but a significant association with a delay in the onset of abnormal ppFVC.
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
Kristin M. Conway, Amber Gedlinske, Katherine D. Mathews, Seth Perlman, Nicholas Johnson, Russell Butterfield, Man Hung, Jerry Bounsanga, Dennis Matthews, Joyce Oleszek, Paul A. Romitti
Summary: The study found associations between loss of independent ambulation, corticosteroid use, and scoliosis in childhood-onset dystrophinopathy. Individuals with loss of independent ambulation and without corticosteroid use had higher risks of developing scoliosis, suggesting potential benefits of corticosteroid use in delaying spinal curvature progression and need for scoliosis surgery.
Article
Psychology, Developmental
Judith Chew, John Carpenter, Anne M. Haase
CHILD CARE HEALTH AND DEVELOPMENT
(2019)
Article
Education, Special
C. Hatton, T. Bailey, J. Bradshaw, S. Caton, S. Flynn, A. Gillooly, A. Jahoda, R. Maguire, A. Marriott, P. Mulhall, E. Oloidi, L. Taggart, S. Todd, D. Abbott, S. Beyer, N. Gore, P. Heslop, K. Scior, R. P. Hastings
Summary: The willingness to take the COVID-19 vaccine is high among adults with ID in the United Kingdom, with factors such as white ethnicity, having received a flu vaccine, obtaining information about COVID-19 from television, and knowing COVID-19 social restrictions rules being associated with willingness. Eighty-seven percent of interviewees with ID and 81.7% of surveyed carers of adults with ID with greater needs reported willingness to take a COVID-19 vaccine, indicating clear implications for public health policy and practice.
JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
(2021)
Article
Communication
Sue Caton, Chris Hatton, Amanda Gillooly, Edward Oloidi, Libby Clarke, Jill Bradshaw, Samantha Flynn, Laurence Taggart, Peter Mulhall, Andrew Jahoda, Roseann Maguire, Anna Marriott, Stuart Todd, David Abbott, Stephen Beyer, Nick Gore, Pauline Heslop, Katrina Scior, Richard P. Hastings
Summary: This article examines the internet usage of people with intellectual disabilities in the UK during the COVID-19 pandemic. The study found that these individuals primarily use the internet to connect with family and friends, engage in social media, and participate in online activities with others. Social connections were regarded as the most positive aspect of the internet, while some participants reported issues with technology and potential harm to their well-being.
NEW MEDIA & SOCIETY
(2022)
Article
Education, Special
Sue Caton, Jill Bradshaw, Amanda Gillooly, Chris Hatton, Samantha Flynn, Edward Oloidi, Andrew Jahoda, Roseann Maguire, Anna Marriott, Peter Mulhall, Laurence Taggart, Stuart Todd, David Abbott, Stephen Beyer, Nick Gore, Pauline Heslop, Katrina Scior, Richard P. Hastings
Summary: During the Covid-19 pandemic, there has been an increase in the use of digital technology, but the experiences of digital participation for people with profound and multiple learning disabilities (PMLD) is less understood.
BRITISH JOURNAL OF LEARNING DISABILITIES
(2023)
Article
Social Work
Jonathan Scourfield, John Carpenter, Nell Warner, Nina Maxwell, Laura Venn, Evgenia Stepanova, Chloe O'Donnell, Rebecca Jones, Martin Elliott, Roger Smith
Summary: Two fast-track child and family social work training programs, Step Up to Social Work and Frontline, have been established in England. Trainees in these programs receive higher financial support compared to mainstream social work degrees. A study assessed retention and reasons for leaving social work, finding that fast-track programs had a lower attrition rate of graduates from statutory social work compared to all social work routes.
JOURNAL OF SOCIAL WORK
(2023)
Article
Education, Special
Samantha Flynn, Chris Hatton
Summary: Access to health and social care services significantly reduced for adults with learning disabilities across the UK during the COVID-19 pandemic. While similar patterns were seen across England, Northern Ireland, Scotland, and Wales, there were some variations between countries for some services. Future pandemic planning must ensure that access to these essential services is not completely lost for this vulnerable population.
TIZARD LEARNING DISABILITY REVIEW
(2021)
Article
Education, Special
Jon Symonds, David Abbott, Daryl Dugdale
Summary: This article discusses the perspectives of fathers with learning disabilities in England on fatherhood and the support they receive. While existing literature focuses on parenting with learning disabilities, few studies have explored the views of fathers in this context.
BRITISH JOURNAL OF LEARNING DISABILITIES
(2021)
Article
Public, Environmental & Occupational Health
Ruth Naughton-Doe, Ailsa Cameron, John Carpenter
Summary: This study explores the potential and challenges of timebanking in the co-production of social care with adults in England. Findings suggest that timebanks are not functioning as described in theory, with limited person-to-person exchanges and some timebanks abandoning this model. Challenges faced by timebanks include risk management, bureaucracy, professional culture, and the complexity of the mechanism, requiring adequate resources.
HEALTH & SOCIAL CARE IN THE COMMUNITY
(2021)
Article
Rehabilitation
Thomas Abrams, David Abbott, Bhavnita Mistry
SCANDINAVIAN JOURNAL OF DISABILITY RESEARCH
(2020)
Article
Rehabilitation
Thomas Abrams, David Abbott
SCANDINAVIAN JOURNAL OF DISABILITY RESEARCH
(2020)
Article
Rehabilitation
David Abbott, John Carpenter, Barbara E. Gibson, Jon Hastie, Marcus Jepson, Brett Smith
DISABILITY & SOCIETY
(2019)
Article
Social Work
Judith Chew, John Carpenter, Anne M. Haase
SOCIAL WORK IN HEALTH CARE
(2018)
Article
Education & Educational Research
Barbra Teater, Jessica Roy, John Carpenter, Donald Forrester, John Devaney, Jonathan Scourfield
JOURNAL OF TEACHING IN SOCIAL WORK
(2017)
Review
Social Work
Judith Chew, John Carpenter, Anne M. Haase
HEALTH & SOCIAL WORK
(2017)
