Article
Cell Biology
Jerry R. Mendell, Perry B. Shieh, Craig M. McDonald, Zarife Sahenk, Kelly J. Lehman, Linda P. Lowes, Natalie F. Reash, Megan A. Iammarino, Lindsay N. Alfano, Brenna Sabo, Jeremy D. Woods, Christy L. Skura, Howard C. Mao, Loretta A. Staudt, Danielle A. Griffin, Sarah Lewis, Shufang Wang, Rachael A. Potter, Teji Singh, Louise R. Rodino-Klapac
Summary: Delandistrogene moxeparvovec (SRP-9001) is a gene transfer therapy that effectively improves SRP-9001 dystrophin expression and shows promising results in patients with Duchenne muscular dystrophy. However, differences in baseline motor function between different age groups may confound the evaluation of treatment effectiveness.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(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)
Review
Clinical Neurology
Mengyuan Chang, Yong Cai, Zihui Gao, Xin Chen, Boya Liu, Cheng Zhang, Weiran Yu, Qianqian Cao, Yuntian Shen, Xinlei Yao, Xiaoyang Chen, Hualin Sun
Summary: Duchenne muscular dystrophy (DMD) is a severe and progressive muscle-wasting disease, characterized by deterioration of skeletal muscle and loss of mobility. The failure of respiratory and cardiac muscles is the main cause of premature death in most DMD patients. Dystrophin deficiency, caused by mutations in the dystrophin gene, plays a crucial role in the pathogenesis of DMD, leading to muscle cell damage and dysfunction.
JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Kate Maresh, Andriani Papageorgiou, Deborah Ridout, Neil A. Harrison, William Mandy, David Skuse, Francesco Muntoni
Summary: Duchenne muscular dystrophy (DMD) patients, in addition to muscle loss, also experience intellectual disability and neurobehavioral co-morbidities. This study shows that boys with DMD exhibit increased startle responses to threat, similar to a DMD mouse model, and these responses normalize with dystrophin restoration.
Letter
Medicine, General & Internal
Carsten G. Boennemann, Beth A. Belluscio, Serge Braun, Carl Morris, Teji Singh, Francesco Muntoni
Summary: Five boys with Duchenne's muscular dystrophy received gene therapy using three different AAV products. However, they experienced serious adverse reactions and laboratory findings indicated cytotoxic T-cell immune responses.
NEW ENGLAND JOURNAL OF MEDICINE
(2023)
Article
Geriatrics & Gerontology
Mary Chesshyre, Deborah Ridout, Yasumasa Hashimoto, Yoko Ookubo, Silvia Torelli, Kate Maresh, Valeria Ricotti, Lianne Abbott, Vandana Ayyar Gupta, Marion Main, Giulia Ferrari, Anna Kowala, Yung-Yao Lin, Francesco Saverio Tedesco, Mariacristina Scoto, Giovanni Baranello, Adnan Manzur, Yoshitsugu Aoki, Francesco Muntoni
Summary: This study highlights the importance of considering the expected effects of DMD mutations on dystrophin isoform production when evaluating motor impairments in DMD patients. Mutations that disrupt Dp140 and Dp71 are found to have a complex relationship with motor outcomes.
JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE
(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
Cedric Happi Mbakam, Gabriel Lamothe, Guillaume Tremblay, Jacques P. Tremblay
Summary: The discovery of CRISPR-Cas system has brought new possibilities in precision medicine, particularly in the correction of Duchenne muscular dystrophy mutations. However, there are challenges to be addressed before its clinical application, such as off-target editing, efficient delivery, immune response, and vector issues.
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)
Article
Oncology
Nancy Alnassar, Malgorzata Borczyk, Georgia Tsagkogeorga, Michal Korostynski, Namshik Han, Dariusz C. Gorecki
Summary: Mutations in the DMD gene cause Duchenne muscular dystrophy (DMD), but recent research shows that reduced DMD expression is also associated with various malignancies. The downregulation of DMD in tumors is correlated with reduced patient survival and tumor stage. These findings challenge the current understanding of dystrophin expression and suggest a broader significance of the DMD gene beyond DMD.
Review
Oncology
Leanne Jones, Michael Naidoo, Lee R. Machado, Karen Anthony
Summary: Mutation of the DMD gene causes muscular dystrophies, but it is also implicated in the development of major cancer types. Disruption of the balance of DMD gene products in cancer may play a key role in tumorigenesis. Further study into the potential role of DMD gene products in cancer is needed to develop new therapeutics.
Review
Clinical Neurology
Arianna Manini, Elena Abati, Andi Nuredini, Stefania Corti, Giacomo Pietro Comi
Summary: Duchenne muscular dystrophy is an infancy-onset neuromuscular disorder with limited treatment options. A promising strategy is AAV-mediated gene therapy, but the issue of transgene persistence is critical.
FRONTIERS IN NEUROLOGY
(2022)
Review
Ophthalmology
Mirella Telles Salgueiro Barboni, Anneka Joachimsthaler, Michel J. Roux, Zoltan Zsolt Nagy, Dora Fix Ventura, Alvaro Rendon, Jan Kremers, Cyrille Vaillend
Summary: Duchenne muscular dystrophy (DMD) is a genetic disorder that mainly affects males and causes early-onset muscle degeneration, leading to reduced quality of life and decreased life expectancy. DMD patients may also experience retinopathy, vision abnormalities, and other retinal complications. The loss of dystrophins in the retina disrupts synaptic transmission, ionic balance, and vascular integrity, but the specific functions of retinal dystrophins remain unclear. This review highlights the current knowledge on dystrophin expression, the potential molecular and physiological properties of retinal dystrophins, and the clinical implications for DMD patients and mouse models.
PROGRESS IN RETINAL AND EYE RESEARCH
(2023)
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
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
Katinka Breuer, Korbinian M. Riedhammer, Nicole Mueller, Birthe Schaidinger, Gregor Dombrowsky, Sven Dittrich, Susanne Zeidler, Ulrike M. M. Bauer, Dominik S. Westphal, Thomas Meitinger, Tikam Chand Dakal, Marc-Phillip Hitz, Johannes Breuer, Heiko Reutter, Alina C. Hilger, Julia Hoefele
Summary: In this study, exome sequencing was performed on 14 case-parent trios/quattros with cardiovascular laterality defects. Rare variants in PKD1L1 and ZIC3 genes were identified in two families, suggesting their association with laterality defects. Additionally, DNAH17, LMBRD1, and WDR47 were proposed as potential genes involved in laterality defects. A comprehensive exome survey of individuals with situs inversus totalis, heterotaxy, or isolated CHD further supported the potential role of WDR47 in laterality defects.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Radiology, Nuclear Medicine & Medical Imaging
Ferdinand Knieling, Robert Cesnjevar, Adrian P. Regensburger, Alexandra L. Wagner, Ariawan Purbojo, Sven Dittrich, Frank Munch, Antje Neubert, Joachim Woelfle, Jorg Jungert, Andre Ruffer
Summary: This study aimed to assess cerebral perfusion in neonates with transposition of the great arteries (TGA) undergoing arterial switch operation (ASO) using transfontanellar contrast-enhanced US (T-CEUS). The results revealed reduced cerebral perfusion in neonates under low-flow hypothermic conditions, which was inversely correlated with age at surgery.
Article
Pediatrics
Tim Stabler, Annika Weigelt, Kathrin Rottermann, Wolfgang Waellisch, Matthias Huebner, Sven Dittrich, Isabelle Schoeffl
Summary: The closure of sports facilities and schools during the lockdown has led to a significant decline in cardiopulmonary function in children with congenital heart disease. However, healthy children have seen improvements in their pulmonary function during confinement.
KLINISCHE PADIATRIE
(2023)
Article
Cardiac & Cardiovascular Systems
Frank Muench, Nicola Kwapil, Andreas Teske, Andre Rueffer, Sven Dittrich, Tilmann Volk, Ariawan Purbojo
Summary: Optimal myocardial protection is crucial for a successful outcome in heart surgery. However, strategies used in adult cardiac surgery cannot be directly applied to infant hearts. A concentration-dependent paediatric microplegia, which provides safe myocardial protection without haemodilution, has been introduced in clinical practice.
Article
Cardiac & Cardiovascular Systems
Sven Dittrich, Claudia Arenz, Otto Krogmann, Anja Tengler, Renate Meyer, Ulrike Bauer, Michael Hofbeck, Andreas Beckmann, Alexander Horke
Summary: The annual report of the German Quality Assurance of Congenital Heart Disease provides a comprehensive overview of interventional and surgical treatment outcomes based on patient age and risk categorization. The report highlights the inclusion of all procedures, the ability to record repeated treatments, and the analysis of various procedures within one case. The analysis reveals differences in adverse events and mortality rates among different treatment methods. Long-term observations emphasize the necessity of redo procedures in patients with complex congenital heart disease.
THORACIC AND CARDIOVASCULAR SURGEON
(2022)
Article
Cardiac & Cardiovascular Systems
Annika Weigelt, Regina Fritsch, Kathrin Rottermann, Wolfgang Waellisch, Julia Moosmann, Sven Dittrich, Ariawan Purbojo, Isabelle Schoeffl
Summary: Fontan patients who engaged in physical activity had significantly higher VO(2)peak and maximum heart rate compared to inactive patients. There was a positive correlation between VO(2)peak and hours of sports performed. This highlights the importance of incorporating physical exercise programs into the treatment of Fontan patients.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)
Article
Cardiac & Cardiovascular Systems
Kathrin Rottermann, Sven Dittrich, Oliver Dewald, Andreas Teske, Nicola Kwapil, Steffen Bleck, Ariawan Purbojo, Frank Muench
Summary: This study aims to elaborate on the requirements for a safe home healthcare environment for pediatric patients on EXCOR (R) VAD with the EXCOR (R) Active driving unit. The results demonstrate that it is feasible and safe to discharge pediatric patients to a home healthcare environment, leading to improved psychomotor development and quality of life. The study also highlights the importance of legal approval and further research with a larger sample size.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)
Article
Health Care Sciences & Services
Marko Klais, Ulrike Doll, Ariawan Purbojo, Sven Dittrich, Kathrin Rottermann
Summary: The study focuses on the implementation of the first tele-medical network for pediatric cardiology in Germany, analyzing the feasibility and technical characteristics. The data communication of the network showed that diagnostic data were mostly transmitted, while discharge letters were predominantly sent. The study also emphasized the successful utilization of the network in providing innovative patient care, especially in complex cases.
JOURNAL OF TELEMEDICINE AND TELECARE
(2023)
Article
Cardiac & Cardiovascular Systems
Jeffrey P. Jacobs, Thomas Krasemann, Claudia Herbst, Zdzislaw Tobota, Bohdan Maruszewski, Jose Fragata, Tjark Ebels, Vladimiro L. Vida, Ilkka Mattila, Andrzej Kansy, Boulos Asfour, Juergen Hoerer, Attilio A. Lotto, M. Sertac Cicek, Petru Liuba, Sven Dittrich, Massimo Chessa, Regina Bokenkamp, Gurleen Sharland, Katarina Hanseus, Nico A. Blom, George E. Sarris
Summary: The European Congenital Heart Surgeons Association (ECHSA) Congenital Database is the second largest clinical pediatric and congenital cardiac surgical database in the world. In order to bridge the gap between surgical and interventional cardiology data, the ECHSA has collaborated with The Association for European Paediatric and Congenital Cardiology to expand the database and capture data about interventional cardiology procedures. This new module aims to provide centers with access to their own outcome data as well as national and international aggregate data for benchmarking, and facilitate comparison between surgical and catheter interventional outcomes.
CARDIOLOGY IN THE YOUNG
(2023)
Article
Medicine, General & Internal
Christoph Treutlein, Martin Georg Zeilinger, Sven Dittrich, Jan-Peter Roth, Matthias Wetzl, Rafael Heiss, Wolfgang Wuest, Matthias Stefan May, Michael Uder, Oliver Rompel
Summary: The purpose of this study was to compare right ventricular functional parameters in children with surgically repaired congenital heart disease using real-time compressed sensing cardiac magnetic resonance imaging (cMRI). The results showed that using real-time compressed sensing cMRI provided high-quality images with reduced scan time.
Article
Cardiac & Cardiovascular Systems
Jeffrey P. Jacobs, Thomas Krasemann, Claudia Herbst, Zdzislaw Tobota, Bohdan Maruszewski, Jose Fragata, Tjark Ebels, Vladimiro L. Vida, Ilkka Mattila, Andrzej Kansy, Boulos Asfour, Juergen Hoerer, Attilio A. Lotto, M. Sertac Cicek, Petru Liuba, Sven Dittrich, Massimo Chessa, Regina Bokenkamp, Gurleen Sharland, Katarina Hanseus, Nico A. Blom, George E. Sarris
Summary: The ECHSA Congenital Database is the largest database for pediatric and congenital cardiac surgical data in Europe, filling a gap in the capability to analyze outcomes for surgical and interventional cardiology procedures at an international level. The new AEPC Interventional Cardiology Part of the ECHSA-CD aims to capture data about interventional cardiology procedures and provide robust outcome data for benchmarking and decision-making.
WORLD JOURNAL FOR PEDIATRIC AND CONGENITAL HEART SURGERY
(2023)
Article
Pediatrics
Annika Weigelt, Steffen Bleck, Matthias Jens Huebner, Kathrin Rottermann, Wolfgang Waellisch, Patrick Morhart, Tariq Abu-Tair, Sven Dittrich, Isabelle Schoeffl
Summary: Pulmonary function is reduced in children after preterm birth, regardless of the presence of bronchopulmonary dysplasia and mechanical ventilation history. However, the impact on cardiopulmonary function in these children is unclear. This study found that moderate to late premature birth did not lead to limitations in cardiopulmonary function in comparison with term-born controls.
EUROPEAN JOURNAL OF PEDIATRICS
(2023)
Article
Cardiac & Cardiovascular Systems
Nicola Kwapil, Andreas Teske, Sven Dittrich, Robert Blumauer, Michela Cuomo, Ariawan Purbojo, Frank Muench
Summary: This study presents the implementation of a novel minimized hemodiafiltration (HDF) system in pediatric patients on ECMO, which allows safe patient volume management and effective elimination of urinary substances.
THORACIC AND CARDIOVASCULAR SURGEON
(2023)
Article
Anesthesiology
F. Muench, A. Purbojo, F. Wenzel, M. Kohl, S. Dittrich, M. Rauh, R. Zimmermann, N. Kwapil
Summary: Mechanical rinsing improves the quality of PRBC before transfusion, and washing with a hemofiltration solution results in a more physiological electrolyte composition. Washing stored PRBC increases the ATP content, leading to an increased probability of survival of red cells after transfusion.
Article
Cardiac & Cardiovascular Systems
Jonas Markus Kleinoeder, Ariawan Purbojo, Robert Blumauer, Michela Cuomo, Muhannad Alkassar, Sven Dittrich, Robert Cesnjevar
Summary: The long-term outcome and freedom from PVR after initial repair of TOF were evaluated in this study. The results showed that TOF repair has a beneficial long-term prognosis with low morbidity and mortality, but certain factors are associated with earlier reoperation.
THORACIC AND CARDIOVASCULAR SURGEON
(2022)