Article
Orthopedics
Aram Kim, Mina Park, Hyung-Ik Shin
Summary: Assessment of pain in individuals with Duchenne muscular dystrophy (DMD) is not well-understood. This study aimed to evaluate the pain characteristics in DMD patients and found that the location, aggravating/relieving factors, pain frequency, and pain interference change with the progression of the disease.
BMC MUSCULOSKELETAL DISORDERS
(2022)
Review
Health Care Sciences & Services
Oliver Gruebner, Afua van Haasteren, Anna Hug, Suzanne Elayan, Martin Sykora, Emiliano Albanese, Georg M. Stettner, Veronika Waldboth, Sandra Messmer-Khosla, Cornelia Enzmann, Dominique Baumann, Viktor von Wyl, Marta Fadda, Markus Wolf, Michael von Rhein
Summary: Receiving a diagnosis of a severe disease is a traumatic event for patients and their families. Digital interventions can be combined with traditional psychological support to help meet their respective needs. The consequences and challenges faced by Neuro Muscular Disease patients and their families were discussed, and practical needs, concerns, and opportunities for digital platform use were identified. The findings highlighted the psychosocial, physical, social, care-related, structural, and financial challenges experienced by patients. The needs and concerns regarding digital platform use included social and professional support, credibility of online information, and privacy issues. It was emphasized that a family-centered approach in digital health and social care is essential, along with researching the suitability of digital platforms in promoting resilience among the affected population.
Article
Medicine, General & Internal
Mark Richardson, Anna Mayhew, Robert Muni-Lofra, Lindsay B. Murphy, Volker Straub
Summary: The study aimed to determine the prevalence of pain in limb girdle muscular dystrophy R9 (LGMDR9) patients and its associations with genotypes, age, and ambulatory status. Findings showed that 87% of patients reported current pain, with 25% reporting severe current pain. The study concludes that pain should be considered a significant issue requiring management in individuals with LGMDR9.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Pediatrics
Aydan Kansu, Zarife Kuloglu, Gokhan Tumgor, Didem Gulcu Taskin, Buket Dalgic, Gonul Caltepe, Kaan Demiroren, Guzide Dogan, Ceyda Tuna Kirsaclioglu, Duran Arslan, Ishak Abdurrahman Isik, Hulya Demir, Ozlem Bekem, Yasin Sahin, Nevzat Aykut Bayrak, Mukadder Ayse Selimoglu, Sibel Yavuz, Ibrahim Ethem Taskaya, Derya Altay, VICTORIA Study Group
Summary: This study aimed to determine the prevalence of Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) in male children and Pompe disease (PD) in male and female children by analyzing creatine phosphokinase (CPK) levels and conducting genetic tests. The findings highlight the importance of screening for potential neuromuscular diseases in patients with isolated hypertransaminasemia, which can prevent unnecessary investigations for liver diseases and lead to timely diagnoses.
FRONTIERS IN PEDIATRICS
(2023)
Article
Veterinary Sciences
Melissa Gunther, Jared A. Jaffey, Jason Evans, Christopher Paige
Summary: A 4-year-old male dog presented with increased serum creatine kinase (CK) enzyme activity, alanine transferase, and aspartate aminotransferase enzyme activities, but remained subclinical with no clinical abnormalities. Differential diagnoses considered were an occult hereditary muscular dystrophic disorder or idiopathic hyperCKemia.
FRONTIERS IN VETERINARY SCIENCE
(2021)
Article
Clinical Neurology
Sarah P. Sherlock, Jeffrey Palmer, Kathryn R. Wagner, Hoda Z. Abdel-Hamid, Enrico Bertini, Cuixia Tian, Jean K. Mah, Anna Kostera-Pruszczyk, Francesco Muntoni, Michela Guglieri, John F. Brandsema, Eugenio Mercuri, Russell J. Butterfield, Craig M. McDonald, Lawrence Charnas, Shannon Marraffino
Summary: Quantitative MRI measurements can serve as sensitive and objective biomarkers for evaluating disease progression and functional changes in boys with DMD.
JOURNAL OF NEUROLOGY
(2022)
Article
Clinical Neurology
Christopher Grunseich, Nathan Sarkar, Joyce Lu, Mallory Owen, Alice Schindler, Peter A. Calabresi, Charlotte J. Sumner, Ricardo H. Roda, Vinay Chaudhry, Thomas E. Lloyd, Thomas O. Crawford, S. H. Subramony, Shin J. Oh, Perry Richardson, Kurenai Tanji, Justin Y. Kwan, Kenneth H. Fischbeck, Ami Mankodi
Summary: Integrating deep phenotyping, gene filter algorithms, and biological assays increased the diagnostic yield of exome sequencing, identified novel pathogenic variants, and extended the phenotypes of difficult-to-diagnose rare neurogenetic disorders in an outpatient clinic setting.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2021)
Article
Neurosciences
Vitor Lucas Lopes Braga, Danielle Pessoa Lima, Tamiris Carneiro Mariano, Pedro Lucas Grangeiro de Sa Barreto Lima, Ana Beatriz de Almeida Maia, Wallace William da Silva Meireles, Kecia Tavares de Oliveira Pessoa, Cristiane Mattos de Oliveira, Erlane Marques Ribeiro, Paulo Ribeiro Nobrega, Andre Luiz Santos Pessoa
Summary: This study describes the spectrum of pathogenic DMD variants in a single center in northeast Brazil. The most recurring patterns of pathogenic variants were deletions and duplications, while nonsense variants had a higher frequency. These findings have important implications for diagnostic and treatment strategies for patients with dystrophinopathies in northeast Brazil.
Review
Biochemistry & Molecular Biology
Adel E. E. Khairullin, Sergey N. N. Grishin, Ayrat U. U. Ziganshin
Summary: The purine signaling system, represented by purine and pyrimidine nucleotides and nucleosides, plays a role through the adenosine, P2X and P2Y receptor families. While P2 receptors have a minor role in physiological conditions, they become more significant in certain pathophysiological conditions, functioning as dominant signaling molecules. The diversity and distribution of P2 receptors make them an attractive target for new mechanism drugs.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Health Care Sciences & Services
Abdallah Fayssoil, Nicolas Mansencal, Jean Bergounioux, Karim Wahbi, Tanya Stojkovic
Summary: This study investigates the impact of mechanical ventilation on cardiac function in patients with neuromuscular disorders. The results show that during ventilation setting modifications or introduction, it is crucial to focus on the systolic and diastolic functions of the right and left ventricles. These findings provide important information for the diagnosis and treatment of patients.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Physiology
Matteo Beretta-Piccoli, Luca Calanni, Massimo Negro, Giulia Ricci, Cinzia Bettio, Marco Barbero, Angela Berardinelli, Gabriele Siciliano, Rossella Tupler, Emiliano Soldini, Corrado Cescon, Giuseppe D'Antona
Summary: The study shows that patients with facioscapulohumeral muscular dystrophy (FSHD) experience lower levels of performance fatigability during sustained isometric elbow flexions compared to healthy controls, characterized by reduced rate of changes in muscle parameters and increased endurance time.
EUROPEAN JOURNAL OF APPLIED PHYSIOLOGY
(2021)
Review
Clinical Neurology
Andrew Hannaford, Steve Vucic, Nens van Alfen, Neil G. Simon
Summary: This article summarizes the key techniques of muscle ultrasound in the context of hereditary muscle diseases. It reviews the diagnostic utility of muscle ultrasound, particularly in guiding electromyography and muscle biopsy sampling. The article also outlines the different patterns of sonographic muscle involvement in various genetic muscle disorders and discusses the limitations of the technique. The aim is to encourage the adoption of ultrasound in the care of patients with hereditary muscle diseases.
NEUROMUSCULAR DISORDERS
(2022)
Article
Multidisciplinary Sciences
Ziad Al Tanoury, John F. Zimmerman, Jyoti Rao, Daniel Sieiro, Harold M. McNamara, Thomas Cherrier, Alejandra Rodriguez-delaRosa, Aurore Hick-Colin, Fanny Bousson, Charlotte Fugier-Schmucker, Fabio Marchiano, Bianca Habermann, Jerome Chal, Alexander P. Nesmith, Svetlana Gapon, Erica Wagner, Vandana A. Gupta, Rhonda Bassel-Duby, Eric N. Olson, Adam E. Cohen, Kevin Kit Parker, Oliver Pourquie
Summary: This study introduces an in vitro human model to investigate the pathology of Duchenne muscular dystrophy (DMD) and test new therapeutic approaches. The researchers describe an optimized protocol for differentiating human induced pluripotent stem cells (iPSC) to a late myogenic stage, which allows them to replicate classic DMD phenotypes in isogenic DMD-mutant iPSC lines. Treatment with prednisolone significantly improves muscle function in DMD iPSC lines, challenging the prevailing view that its benefits are solely due to anti-inflammatory properties.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Clinical Neurology
Nobuyuki Eura, Satoru Noguchi, Masashi Ogasawara, Theerawat Kumutpongpanich, Shinichiro Hayashi, Ichizo Nishino
Summary: This study identified a diagnostic muscle involvement pattern in OPDM reflecting its natural history, which will help in appropriate intervention based on the diagnosis of OPDM.
JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Susana Quijano-Roy, Jana Haberlova, Claudia Castiglioni, John Vissing, Francina Munell, Francois Rivier, Tanya Stojkovic, Edoardo Malfatti, Marta Gomez Garcia de la Banda, Giorgio Tasca, Laura Costa Comellas, Audrey Benezit, Helge Amthor, Ivana Dabaj, Clara Gontijo Camelo, Pascal Laforet, John Rendu, Norma B. Romero, Eliana Cavassa, Fabiana Fattori, Christophe Beroud, Jana Zidkova, Nicolas Leboucq, Nicoline Lokken, Angel Sanchez-Montanez, Ximena Ortega, Martin Kyncl, Corinne Metay, David Gomez-Andres, Robert Y. Carlier
Summary: Patients with LAMA2-RD exhibit a consistent pattern of abnormal muscle fat replacement in muscle imaging, which serves as a supportive diagnostic tool. Thigh muscles appear to be the most informative for assessing disease progression.
JOURNAL OF NEUROLOGY
(2022)
Editorial Material
Health Care Sciences & Services
Gregory T. Carter, Michael E. Schatman
AMERICAN JOURNAL OF HOSPICE & PALLIATIVE MEDICINE
(2014)
Editorial Material
Health Care Sciences & Services
Steven J. Baumrucker, Gregory T. Carter, Russell W. Adkins, Matt Stolick, Melissa McCall-Burton, Leslie Stilin Schmidt, Rev Karrie Oertli
AMERICAN JOURNAL OF HOSPICE & PALLIATIVE MEDICINE
(2014)
Article
Rehabilitation
Amanda E. Smith, Kara McMullen, Mark P. Jensen, Gregory T. Carter, Ivan R. Molton
AMERICAN JOURNAL OF PHYSICAL MEDICINE & REHABILITATION
(2014)
Article
Clinical Neurology
Sunil Kumar Aggarwal, Gregory Carter, Mark Sullivan, Richard Morrill, Craig Zumbrunnen, Jonathan Mayer
JOURNAL OF NERVOUS AND MENTAL DISEASE
(2013)
Article
Clinical Neurology
Seth D. Friedman, Sandra L. Poliachik, Randolph K. Otto, Gregory T. Carter, Christopher B. Budech, Thomas D. Bird, Daniel G. Miller, Dennis W. W. Shaw
Article
Clinical Neurology
Robert G. Miller, Benjamin Rix Brooks, Rebecca J. Swain-Eng, Robert C. Basner, Gregory T. Carter, Patricia Casey, Adam B. Cohen, Richard Dubinsky, Dallas Forshew, Carlayne E. Jackson, Ed Kasarskis, Nicholas J. Procaccini, Mohammed Sanjak, Fredrik P. Tolin
Editorial Material
Rehabilitation
Gregory T. Carter
PHYSICAL MEDICINE AND REHABILITATION CLINICS OF NORTH AMERICA
(2013)
Editorial Material
Rehabilitation
Gregory T. Carter
PHYSICAL MEDICINE AND REHABILITATION CLINICS OF NORTH AMERICA
(2013)
Editorial Material
Rehabilitation
Gregory T. Carter
PHYSICAL MEDICINE AND REHABILITATION CLINICS OF NORTH AMERICA
(2013)
Editorial Material
Rehabilitation
Gregory T. Carter
PHYSICAL MEDICINE AND REHABILITATION CLINICS OF NORTH AMERICA
(2014)
Editorial Material
Clinical Neurology
Lyle Ostrow, Richard Bedlack, Orla Hardiman, Terry Heiman-Patterson, Laurie Gutmann, Mark Bromberg, Gregory Carter, Edor Kabashi, Tulio Bertorini, Tahseen Mozaffar, Peter Andersen, Jeff Dietz, Josep Gamez, Mazen Dimachkie, Yunxia Wang, Paul Wicks, James Heywood, Steven Novella, L. P. Rowland, Erik Pioro, Lisa Kinsley, Kathy Mitchell, Jonathan Glass, Sith Sathornsumetee, Hubert Kwiecinski, Jon Baker, Nazem Atassi, Dallas Forshew, John Ravits, Robin Conwit, Carlayne Jackson, Alex Sherman, Kate Dalton, Katherine Tindall, Ginna Gonzalez, Janice Robertson, Larry Phillips, Michael Benatar, Eric Sorenson, Christen Shoesmith, Steven Nash, Nicholas Maragakis, Dan Moore, James Caress, Kevin Boylan, Carmel Armon, Megan Grosso, Bonnie Gerecke, Jim Wymer, Bjorn Oskarsson, Robert Bowser, Vivian Drory, Jeremy Shefner, Noah Lechtzin, Melanie Leitner, Robert Miller, Hiroshi Mitsumoto, Todd Levine, James Russell, Khema Sharma, David Saperstein, Leo McClusky, Daniel MacGowan, Jonathan Licht, Ashok Verma, Michael Strong, Catherine Lomen-Hoerth, Rup Tandan, Michael Rivner, Steve Kolb, Meraida Polak, Stacy Rudnicki, Pamela Kittrell, Muddasir Quereshi, George Sachs, Gary Pattee, Michael Weiss, John Kissel, Jonathan Goldstein, Jeffrey Rothstein, Dan Pastula, Gleb Levitsky, Mieko Ogino, Jeffrey Rosenfeld, Efrat Carmi, Craig Oster, Christina Fournier, Paul Barkhaus, Eric Valor, Brett Morrison
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
(2013)
Review
Clinical Neurology
Richard Bedlack, Orla Hardiman, Terry Heiman-Patterson, Laurie Gutmann, Mark Bromberg, Lyle Ostrow, Gregory Carter, Edor Kabashi, Tulio Bertorini, Tahseen Mozaffar, Peter Andersen, Jeff Dietz, Josep Gamez, Mazen Dimachkie, Yunxia Wang, Paul Wicks, James Heywood, Steven Novella, L. P. Rowland, Erik Pioro, Lisa Kinsley, Kathy Mitchell, Jonathan Glass, Sith Sathornsumetee, Hubert Kwiecinski, Jon Baker, Nazem Atassi, Dallas Forshew, John Ravits, Robin Conwit, Carlayne Jackson, Alex Sherman, Kate Dalton, Katherine Tindall, Ginna Gonzalez, Janice Robertson, Larry Phillips, Michael Benatar, Eric Sorenson, Christen Shoesmith, Steven Nash, Nicholas Marigakis, Dan Moore, James Caress, Kevin Boylan, Carmel Armon, Megan Grosso, Bonnie Gerecke, Jim Wymer, Bjorn Oskarsson, Robert Bowser, Vivian Drory, Jeremy Shefner, Noah Lechtzin, Melanie Leitner, Robert Miller, Hiroshi Mitsumoto, Todd Levine, James Russell, Khema Sharma, David Saperstein, Leo McClusky, Daniel MacGowan, Jonathan Licht, Ashok Verma, Michael Strong, Catherine Lomen-Hoerth, Rup Tandan, Michael Rivner, Steve Kolb, Meraida Polak, Stacy Rudnicki, Pamela Kittrell, Muddasir Quereshi, George Sachs, Gary Pattee, Michael Weiss, John Kissel, Jonathan Goldstein, Jeffrey Rothstein, Dan Pastula, Gleb Levitsky, Mieko Ogino, Jeffrey Rosenfeld, Efrat Carmi, Craig Oster, Christina Fournier, Paul Barkhaus, Eric Valor
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
(2013)
Review
Clinical Neurology
Lyle Ostrow, Richard Bedlack, Orla Hardiman, Terry Heiman-Patterson, Laurie Gutmann, Mark Bromberg, Gregory Carter, Edor Kabashi, Tulio Bertorini, Tahseen Mozaffar, Peter Andersen, Jeff Dietz, Josep Gamez, Mazen Dimachkie, Yunxia Wang, Paul Wicks, James Heywood, Steven Novella, L. P. Rowland, Erik Pioro, Lisa Kinsley, Kathy Mitchell, Jonathan Glass, Sith Sathornsumetee, Hubert Kwiecinski, Jon Baker, Nazem Atassi, Dallas Forshew, John Ravits, Robin Conwit, Carlayne Jackson, Alex Sherman, Kate Dalton, Katherine Tindall, Ginna Gonzalez, Janice Robertson, Larry Phillips, Michael Benatar, Eric Sorenson, Christen Shoesmith, Steven Nash, Nicholas Maragakis, Dan Moore, James Caress, Kevin Boylan, Carmel Armon, Megan Grosso, Bonnie Gerecke, Jim Wymer, Bjorn Oskarsson, Robert Bowser, Vivian Drory, Jeremy Shefner, Noah Lechtzin, Melanie Leitner, Robert Miller, Hiroshi Mitsumoto, Todd Levine, James Russell, Khema Sharma, David Saperstein, Leo McClusky, Daniel MacGowan, Jonathan Licht, Ashok Verma, Michael Strong, Catherine Lomen-Hoerth, Rup Tandan, Michael Rivner, Steve Kolb, Meraida Polak, Stacy Rudnicki, Pamela Kittrell, Muddasir Quereshi, George Sachs, Gary Pattee, Michael Weiss, John Kissel, Jonathan Goldstein, Jeffrey Rothstein, Dan Pastula, Gleb Levitsky, Mieko Ogino, Jeffrey Rosenfeld, Efrat Carmi, Craig Oster, Christina Fournier, Paul Barkhaus, Eric Valor, Brett Morrison, Lorne Zinman
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
(2013)
Review
Clinical Neurology
Christina Fournier, Richard Bedlack, Orla Hardiman, Terry Heiman-Patterson, Laurie Gutmann, Mark Bromberg, Lyle Ostrow, Gregory Carter, Edor Kabashi, Tulio Bertorini, Tahseen Mozaffar, Peter Andersen, Jeff Dietz, Josep Gamez, Mazen Dimachkie, Yunxia Wang, Paul Wicks, James Heywood, Steven Novella, L. P. Rowland, Erik Pioro, Lisa Kinsley, Kathy Mitchell, Jonathan Glass, Sith Sathornsumetee, Hubert Kwiecinski, Jon Baker, Nazem Atassi, Dallas Forshew, John Ravits, Robin Conwit, Carlayne Jackson, Alex Sherman, Kate Dalton, Katherine Tindall, Ginna Gonzalez, Janice Robertson, Larry Phillips, Michael Benatar, Eric Sorenson, Christen Shoesmith, Steven Nash, Nicholas Maragakis, Dan Moore, James Caress, Kevin Boylan, Carmel Armon, Megan Grosso, Bonnie Gerecke, Jim Wymer, Bjorn Oskarsson, Robert Bowser, Vivian Drory, Jeremy Shefner, Noah Lechtzin, Melanie Leitner, Robert Miller, Hiroshi Mitsumoto, Todd Levine, James Russell, Khema Sharma, David Saperstein, Leo McClusky, Daniel MacGowan, Jonathan Licht, Ashok Verma, Michael Strong, Catherine Lomen-Hoerth, Rup Tandan, Michael Rivner, Steve Kolb, Meraida Polak, Stacy Rudnicki, Pamela Kittrell, Muddasir Quereshi, George Sachs, Gary Pattee, Michael Weiss, John Kissel, Jonathan Goldstein, Jeffrey Rothstein, Dan Pastula, Gleb Levitsky, Mieko Ogino, Jeffrey Rosenfeld, Efrat Carmi, Craig Oster, Paul Barkhaus, Eric Valor
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
(2013)
Article
Psychology, Clinical
Sunil K. Aggarwal, Gregory T. Carter, Craig Zumbrunnen, Richard Morrill, Mark Sullivan, Jonathan D. Mayer
JOURNAL OF PSYCHOACTIVE DRUGS
(2013)