Review
Biotechnology & Applied Microbiology
Martina Sandona, Lorena Di Pietro, Federica Esposito, Alessia Ventura, Antonietta Rosa Silini, Ornella Parolini, Valentina Saccone
Summary: Mesenchymal stromal cells (MSCs) are multipotent cells found in various tissues that have anti-fibrotic and immunoregulatory properties. Their secretome, including extracellular vesicles (EVs), can mimic the therapeutic effects of MSCs and offer advantages such as easier storage and safer administration for muscle regeneration in different diseases.
FRONTIERS IN BIOENGINEERING AND BIOTECHNOLOGY
(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)
Review
Pharmacology & Pharmacy
Mohsan Iftikhar, Justin Frey, Md Jasimuddin Shohan, Sohail Malek, Shaker A. Mousa
Summary: Many neuromuscular diseases are genetically inherited, with two common ones being Duchenne Muscular Dystrophy and Spinal Muscular Atrophy. Patients with these diseases often require supportive therapy, nutrition, and respiratory assistance, with FDA-approved drug therapies available to treat specific types of DMD and SMA.
PHARMACOLOGY & THERAPEUTICS
(2021)
Article
Engineering, Biomedical
Zewei Sun, Xianlin Yue, Lei Liu, Ying Li, Jie Cui, Dong Li, Lee Weiss, Phil Campbell, Yanling Mu, Johnny Huard, Xiaodong Mu
Summary: In Duchenne muscular dystrophy, the exhaustion of muscle stem cells is closely related to dystrophic muscle phenotypes. However, current transplantation strategies for improving muscle regeneration face challenges such as poor cell survival, rapid loss of stemness, and limited dispersion of grafted cells. To overcome these obstacles, researchers used inkjet-based bioprinting technology to engineer a mimicked artificial stem cell niche in dystrophic muscle. They bioprinted stem cell niche regulating factors onto a 3D DermaMatrix construct and observed improved cell engraftment and muscle regeneration in diseased muscle.
INTERNATIONAL JOURNAL OF BIOPRINTING
(2023)
Article
Clinical Neurology
Hee-Jin Cho, Jin-Hong Shin, Young-Eun Park, Eunhee Sohn, Tai-Seung Nam, Min-Gu Kang, Jin-Mo Park, Donghwi Park, Jin-Sung Park
Summary: Cho et al. characterized a large sample of Korean patients with genetically confirmed spinal and bulbar muscular atrophy, providing genetic, electrophysiological, clinical, and hormonal data. The findings will help interpret future clinical trial results and support early diagnosis.
Article
Clinical Neurology
Laura E. Habets, Bart Bartels, Fay-Lynn Asselman, Melissa T. Hooijmans, Sandra van den Berg, Aart J. Nederveen, W. Ludo van der Pol, Jeroen A. L. Jeneson
Summary: This study provides clinical evidence of abnormal muscle bioenergetics in patients with hereditary proximal spinal muscular atrophy, suggesting a potential role of mitochondrial dysfunction in the disease pathogenesis. The study also highlights the contribution of degeneration and atrophy of motor neurons and associated musculature, as well as the depletion of specific myofiber types, to muscle weakness in this cohort. These findings contribute to a better understanding of the underlying mechanisms of the disease and provide potential new biomarkers and targets for therapy.
Article
Cell Biology
Paige J. Chambers, Emma S. Juracic, Val A. Fajardo, A. Russell Tupling
Summary: Sarcolipin (SLN) is a small regulatory protein that inhibits the sarco(endo)plasmic reticulum Ca2+-ATPase (SERCA) pump and plays a direct role in altering skeletal muscle relaxation and energy expenditure. The expression of SLN is dynamic during muscle adaptation and its upregulation can have both beneficial and detrimental effects on muscle health. The underlying mechanisms of SLN upregulation may involve a positive feedback loop with Ca2+ signaling molecules.
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Martina Gatti, Katarina Stoklund Dittlau, Francesca Beretti, Laura Yedigaryan, Manuela Zavatti, Pietro Cortelli, Carla Palumbo, Emma Bertucci, Ludo van den Bosch, Maurilio Sampaolesi, Tullia Maraldi
Summary: Neuromuscular junctions are important for communication between spinal motor neurons and skeletal muscle, and their vulnerability in degenerative diseases like muscle atrophy is poorly understood. Recent studies have shown the regenerative potential of stem cells and extracellular vesicles in muscle fiber regeneration, but their role in counteracting NMJ perturbations is not clear. In this study, a co-culture system was used to investigate the effects of AFSC-derived EVs on NMJ alterations induced by muscle atrophy. The presence of EVs reduced morphological and functional defects and prevented oxidative stress in atrophic myotubes. This study provides a valuable tool for studying MN and myotube interactions and demonstrates the efficacy of AFSC-EVs in counteracting NMJ perturbations.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Cell Biology
Giulia Gaggi, Andrea Di Credico, Simone Guarnieri, Maria Addolorata Mariggio, Angela Di Baldassarre, Barbara Ghinassi
Summary: Human amniotic fluids stem cells (hAFSCs) can differentiate into spinal motor neurons and form functional neuromuscular junctions, providing a promising approach for the study and treatment of neurodegenerative diseases.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Clinical Neurology
Jacqueline Montes, Ashley M. Goodwin, Michael P. McDermott, David Uher, Feliz Marie Hernandez, Kayla Coutts, Julia Cocchi, Margarethe Hauschildt, Kayla M. Cornett, Ashwini K. Rao, Umrao R. Monani, Carol Ewing Garber, Darryl C. De Vivo
Summary: This study reveals reduced muscle oxygen uptake and increased fatigue during exercise in individuals with spinal muscular atrophy (SMA) compared to healthy controls, with significant correlations between muscle oxygen uptake and aerobic capacity, workload, and body composition in SMA patients. Understanding the mechanisms underlying these changes may lead to identifying new therapeutic targets for alleviating symptoms and reducing disease burden in SMA patients.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2021)
Review
Clinical Neurology
H. S. Lapp, M. Freigang, T. Hagenacker, M. Weiler, C. D. Wurster, Rene Guenther
Summary: 5q-associated spinal muscular atrophy (SMA) is a rare genetic disease caused by mutations in the SMN1 gene, resulting in the degeneration of motor neurons. New disease-modifying drugs have revolutionized SMA treatment, but the need for biomarkers for therapeutic guidance and disease monitoring remains.
JOURNAL OF NEUROLOGY
(2023)
Article
Engineering, Biomedical
Mariska M. H. P. Janssen, Jolinda Horstik, Paulien Klap, Imelda J. M. de Groot
Summary: This study evaluates the feasibility and effectiveness of the Yumen Arm, a dynamic arm support developed for DMD and SMA patients. Results showed improvements in active range of motion and function ability, as well as reduced fatigue when using the Yumen Arm. Most participants expressed willingness to use the Yumen Arm in their daily lives.
JOURNAL OF NEUROENGINEERING AND REHABILITATION
(2021)
Article
Cell Biology
Shuo Yang, Juan Yang, Huiwen Zhao, Rong Deng, Hancheng Fan, Jinfu Zhang, Zihao Yang, Huihong Zeng, Bohai Kuang, Lijian Shao
Summary: DMD is a common muscular necrotic disease with no effective treatment currently available. Oxidative stress and chronic inflammation are common pathological features of DMD, and muscle stem cell failure is related to the pathophysiological changes in skeletal muscle. The antioxidant compound GT3 can reduce oxidative stress and promote the recovery of muscle stem cell function in DMD mice.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Alec Wright, Arielle Hall, Tara Daly, Tatiana Fontelonga, Sarah Potter, Caitlin Schafer, Andrew Lindsley, Christina Hung, Olaf Bodamer, Emanuela Gussoni
Summary: Kabuki syndrome is a rare genetic disorder caused by mutations in histone modifier genes, leading to complex phenotypes. Research on the consequences of loss of KMT2D function in muscles of mice and humans revealed that epigenetic changes associated with the disorder can be reversed in a suitable physiological environment.
Article
Clinical Neurology
Thomas Meyer, Andre Maier, Zeljko Uzelac, Tim Hagenacker, Rene Guenther, Olivia Schreiber-Katz, Markus Weiler, Robert Steinbach, Ute Weyen, Jan Christoph Koch, Dagmar Kettemann, Jenny Norden, Johannes Dorst, Claudia Wurster, Albert C. Ludolph, Benjamin Stolte, Maren Freigang, Alma Osmanovic, Susanne Petri, Julian Grosskreutz, Annekathrin Roediger, Ramona Griep, Marcel Gaudlitz, Bertram Walter, Christoph Muench, Susanne Spittel
Summary: This study investigated treatment expectations and perception of therapy in adult patients with 5q-associated spinal muscular atrophy (5q-SMA) receiving nusinersen. The results showed that patients had a positive perception of nusinersen therapy, and treatment expectations were associated with SMA type and functional status.
EUROPEAN JOURNAL OF NEUROLOGY
(2021)
Review
Gastroenterology & Hepatology
Lucinda Tullie, Brendan C. Jones, Paolo De Coppi, Vivian S. W. Li
Summary: Short bowel syndrome is a rare but highly morbid and mortal condition. Exciting advances have been made in the field of intestinal tissue engineering as a potential therapeutic option to address this unmet clinical need. This review summarizes the progress in intestinal tissue engineering and discusses the key factors and challenges in transitioning it towards clinical translation.
NATURE REVIEWS GASTROENTEROLOGY & HEPATOLOGY
(2022)
Editorial Material
Genetics & Heredity
Francesca Russo, Alexandra Benachi, Eduard Gratacos, Augusto Zani, Richard Keijzer, Emily Partridge, Nicolas Sananes, Paolo De Coppi, Michael Aertsen, Kypros H. Nicolaides, Jan Deprest
Summary: This article discusses prenatal diagnosis and treatment methods for congenital diaphragmatic hernia, highlighting the impact of tracheal occlusion on survival rates and premature birth risks, as well as the limitations in implementing this treatment method.
PRENATAL DIAGNOSIS
(2022)
Article
Cell & Tissue Engineering
Edoardo Maghin, Eugenia Carraro, Daniele Boso, Arben Dedja, Mattia Giagante, Paola Caccin, Raluca Ana-Maria Barna, Silvia Bresolin, Alice Cani, Giulia Borile, Deborah Sandrin, Filippo Romanato, Francesca Cecchinato, Anna Urciuolo, Dorianna Sandona, Paolo De Coppi, Piero G. Pavan, Martina Piccoli
Summary: This study developed a tissue engineering approach to generate diaphragmatic-like tissues using decellularized diaphragmatic muscle and human cells. The mechanically stimulated constructs showed improved tissue remodeling and fibroblast overgrowth, as well as the formation of new oriented and aligned muscle fibers. In vivo implantation of these constructs in a surgical CDH mouse model demonstrated the potential of this approach for treating diaphragm defects.
NPJ REGENERATIVE MEDICINE
(2022)
Review
Biotechnology & Applied Microbiology
Eugenia Carraro, Lucia Rossi, Edoardo Maghin, Marcella Canton, Martina Piccoli
Summary: This review discusses the importance of generating human skeletal muscle three-dimensional models through tissue engineering approaches, including the study of the most severe myopathies and the comparison of different in vitro models, as well as their effectiveness in simulating disease mechanisms and investigating therapeutic effects.
FRONTIERS IN BIOENGINEERING AND BIOTECHNOLOGY
(2022)
Article
Biochemical Research Methods
Laween Meran, Lucinda Tullie, Simon Eaton, Paolo De Coppi, Vivian S. W. Li
Summary: The authors present a protocol for bioengineering human intestinal mucosal grafts using patient-derived materials. This technology has significant potential for treating intestinal failure and studying human gastrointestinal diseases.
Article
Public, Environmental & Occupational Health
Maria Peppa, Bianca L. De Stavola, Stavros Loukogeorgakis, Ania Zylbersztejn, Ruth Gilbert, Paolo De Coppi
Summary: This study utilized national birth cohort data in England to compare the birth prevalence, relationship with maternal age, and 1-year mortality rates of different subtypes of congenital diaphragmatic hernia (CDH). The results showed that the risk of complex CDH was associated with maternal age, and the 1-year mortality rate for complex CDH was slightly higher than for isolated CDH.
PAEDIATRIC AND PERINATAL EPIDEMIOLOGY
(2023)
Article
Pediatrics
Cunera M. C. de Beaufort, Dalia Aminoff, Ivo de Blaauw, Celia Cretolle, Jens Dingemann, Natalie Durkin, Wout F. J. Feitz, JoAnne Fruithof, Caterina Grano, Carmen Mesas Burgos, Nicole Schwarzer, Graham Slater, Tutku Soyer, Cristiano Violani, Rene Wijnen, Paolo de Coppi, Ramon R. Gorter
Summary: The aim of this international study was to assess the current status of transition of care (TOC) and adult care (AC) programs for patients with anorectal malformations (ARM) and Hirschsprung disease (HD). The results showed that less than 50% of the participating centers had installed these programs, and there was considerable heterogeneity in the content and implementation of the programs. Sharing best practice examples and considering local and national healthcare programs may improve the continuity of care in the future.
JOURNAL OF PEDIATRIC SURGERY
(2023)
Article
Acoustics
S. Vergote, F. R. De Bie, J. M. N. Duffy, J. Bosteels, A. Benachi, B. Power, F. Meijer, H. L. Hedrick, C. J. Fernandes, I. K. M. Reiss, P. De Coppi, K. P. Lally, J. A. Deprest
Summary: A core outcome set for evaluating perinatal interventions in congenital diaphragmatic hernia was developed with the input of stakeholders, standardizing the selection and definition of outcomes and facilitating future research to guide clinical practice.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
(2023)
Article
Multidisciplinary Sciences
Anna Urciuolo, Giovanni Giuseppe Giobbe, Yixiao Dong, Federica Michielin, Luca Brandolino, Michael Magnussen, Onelia Gagliano, Giulia Selmin, Valentina Scattolini, Paolo Raffa, Paola Caccin, Soichi Shibuya, Dominic Scaglioni, Xuechun Wang, Ju Qu, Marko Nikolic, Marco Montagner, Gabriel L. Galea, Hans Clevers, Monica Giomo, Paolo De Coppi, Nicola Elvassore
Summary: This study develops a hydrogel-in-hydrogel bioprinting approach to dynamically control the growth landscape of three-dimensional cell cultures. The technique enables modulation of hydrogel characteristics to guide neural axon directionality, control cell migration in cancer organoids, and promote cell polarity in liver and small intestinal organoids, as well as control lung tip bifurcation.
NATURE COMMUNICATIONS
(2023)
Article
Pharmacology & Pharmacy
Anna Maria Tolomeo, Gaia Zuccolotto, Ricardo Malvicini, Giada De Lazzari, Alessandro Penna, Chiara Franco, Federico Caicci, Fabio Magarotto, Santina Quarta, Michela Pozzobon, Antonio Rosato, Maurizio Muraca, Federica Collino
Summary: This study aimed to evaluate the biodistribution of MSC-EVs after different routes of administration in mice. Results showed that local administration could increase the concentration of EVs in selective organs, limiting their systemic distribution and potentially reducing extra-organ effects. Biodistribution studies can help in selecting the most appropriate way of administering MSC-EVs for treating different diseases.
Article
Pediatrics
Amulya Saxena, Annika Mutanen, Ramon Gorter, Andrea Conforti, Pietro Bagolan, Paolo De Coppi, Tutku Soyer
Summary: This study reviewed the literature on the management of neonatal ovarian simple cysts and formulated a consensus statement based on current evidence and peer practice. Although there is limited data on the potential benefits and complications of prenatal ultrasound-guided aspiration, neonates after such procedures should be followed for 6 months. Neonates with simple ovarian cysts larger than 4 cm should undergo surgical interventions within the first two weeks of life, with laparoscopic cyst aspiration and fenestration using bipolar instruments as the preferred approach. Ultrasound follow-up should be done at 3 months after surgical intervention and every 3 to 4 months with the conservative approach until 1 year.
EUROPEAN JOURNAL OF PEDIATRIC SURGERY
(2023)
Article
Biochemistry & Molecular Biology
Maria Chiara Scaini, Luisa Piccin, Davide Bassani, Antonio Scapinello, Stefania Pellegrini, Cristina Poggiana, Cristina Catoni, Debora Tonello, Jacopo Pigozzo, Luigi Dall'Olmo, Antonio Rosato, Stefano Moro, Vanna Chiarion-Sileni, Chiara Menin
Summary: The FDA has approved MAPK inhibitors for treating melanoma patients with BRAF gene mutation in the V600 codon. However, rare BRAF mutations outside the V600 codon may also cause melanoma, and their response to BRAF inhibitor treatment is still not well understood. In this study, a patient with a rare p.T599dup B-RAF mutation was found to have a good response to Dabrafenib/Trametinib targeted therapy. In-silico modeling showed that Dabrafenib could effectively bind to this rare mutation, suggesting the possibility of broadening the spectrum of BRAF inhibitor-sensitive mutations beyond the V600 codon.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Cell & Tissue Engineering
Miriam Duci, Ludovica De Cesare, Agner Henrique Dorigo Hochuli, Maurizio Muraca, Mara Cananzi, Piergiorgio Gamba, Francesco Fascetti-Leon, Michela Pozzobon
Summary: This review highlights the crucial role of intestinal epithelium in the development of NEC and IBD. Various in vitro, ex vivo, and animal models are discussed for studying epithelial injury in these disorders. Despite advancements in early recognition and aggressive treatment, there is still no proven therapy to effectively reduce the severity of NEC and IBD. The burden of these diseases on individuals and society is significant, necessitating the exploration of alternative therapeutic options.
Review
Biotechnology & Applied Microbiology
Giada Benedetti, Beatriz Fournon Berodia, Paolo De Coppi, Giovanni Giuseppe Giobbe
Summary: Gastrointestinal organ failure is a leading cause of death globally, and the engineering of human organoids in the gastrointestinal tract shows promising potential for personalized and regenerative medicine.
FRONTIERS IN CHEMICAL ENGINEERING
(2023)
Article
Automation & Control Systems
Jacopo Giordano, Angelo Cenedese
Summary: This letter presents a robust control solution for a satellite equipped with a robotic manipulator. The dynamical model of the system is derived based on quaternions to describe the satellite's attitude evolution. A non-singular terminal sliding mode controller that uses quaternions for attitude control is proposed to handle all degrees of freedom of the system concurrently. An additional adaptive term is embedded in the controller to estimate disturbances and uncertainties. The result is a resilient solution capable of withstanding unmodelled dynamics and interactions. Stability of the controller is proved using Lyapunov theory, and numerical simulations are conducted to assess performance and fuel efficiency.
IEEE CONTROL SYSTEMS LETTERS
(2023)
