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
Cell Biology
Catherine A. Bellissimo, Madison C. Garibotti, Christopher G. R. Perry
Summary: Mitochondrial stress may play a secondary role in muscle weakness in inherited muscular dystrophies, such as Duchenne muscular dystrophy. The degree and direction of mitochondrial stress responses depend on various factors, including disease progression, muscle type, mouse models used, metabolic pathways, and in vitro techniques. Future research should consider these factors to better understand the heterogeneous nature of mitochondrial stress in Duchenne muscular dystrophy.
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
(2022)
Article
Cell Biology
Rekha Balakrishnan, Satvik Mareedu, Gopal J. Babu
Summary: The reduction or elimination of sarcolipin (SLN) expression improves muscle metabolism, reduces oxidative stress, improves muscle pathology, and protects mdx mice from glucose intolerance in the Duchenne muscular dystrophy (DMD) mouse model.
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
(2022)
Article
Geriatrics & Gerontology
Francesca M. Alves, Kai Kysenius, Marissa K. Caldow, Justin P. Hardee, Jin D. Chung, Jennifer Trieu, Dominic J. Hare, Peter J. Crouch, Scott Ayton, Ashley Bush, Gordon S. Lynch, Rene Koopman
Summary: Muscle tissues from dystrophic mice showed increased iron levels and dysregulated iron-related proteins associated with the pathology. Muscle iron levels were manipulated by iron chelation and iron-enriched feed, with chelation reducing fibrosis and reactive oxygen species but suppressing certain proteins, while iron supplementation increased specific proteins without altering other aspects of pathology.
JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE
(2022)
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
Nutrition & Dietetics
Zoe E. Davidson, Ian Hughes, Monique M. Ryan, Andrew J. Kornberg, Anita G. Cairns, Kristi Jones, Meghan Hutchence, Hugo Sampaio, Margot Morrison, Helen Truby
Summary: This study compared the effects of standard and enhanced nutritional supplements on functional outcomes in boys with DMD. The enhanced supplement showed a potentially clinically important effect on 6MWD, while results were inconclusive due to small sample size. The study did not support the use of combined nutritional supplements to improve body composition or quality of life in DMD.
CLINICAL NUTRITION
(2021)
Article
Pharmacology & Pharmacy
Matteo Giovarelli, Silvia Zecchini, Giorgia Catarinella, Claudia Moscheni, Patrizia Sartori, Cecilia Barbieri, Paulina Roux-Biejat, Alessandra Napoli, Chiara Vantaggiato, Davide Cervia, Cristiana Perrotta, Emilio Clementi, Lucia Latella, Clara De Palma
Summary: Duchenne Muscular Dystrophy (DMD) is a rare genetic disorder characterized by progressive muscle wasting, weakness, and premature death. Research has shown that targeting secondary pathological mechanisms, such as mitochondrial dysfunction, is important in improving therapeutic outcomes. Studies have identified two temporally distinct phases of mitochondrial damage in DMD patients, with potential for promoting mitochondrial regeneration and enhancing energy production through specific medications.
PHARMACOLOGICAL RESEARCH
(2021)
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)
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
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.
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.
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
Nutrition & Dietetics
Larry A. Tucker
Summary: This study found associations between serum, dietary, and supplemental vitamin D levels and insulin resistance. After controlling for all covariates, individuals with the lowest serum vitamin D levels had significantly greater odds of having insulin resistance.
Article
Medicine, Research & Experimental
Andrea Farini, Luana Tripodi, Chiara Villa, Francesco Strati, Amanda Facoetti, Guido Baselli, Jacopo Troisi, Annamaria Landolfi, Caterina Lonati, Davide Molinaro, Michelle Wintzinger, Stefano Gatti, Barbara Cassani, Flavio Caprioli, Federica Facciotti, Mattia Quattrocelli, Yvan Torrente
Summary: Duchenne muscular dystrophy (DMD) is a progressive muscle wasting disease caused by mutations in the DMD gene. In this study, researchers investigated the role of intestinal bacteria in supporting the muscle immune response in a dystrophic mouse model. They found a correlation between DMD disease features and the abundance of Prevotella bacteria. Manipulating the gut microbial community through germ-free animal models and antibiotic treatment influenced muscle immunity and fibrosis. Intestinal colonization with beneficial bacteria improved inflammation, muscle pathology, and function. This study highlights a potential role for the gut microbiota in DMD pathogenesis.
EMBO MOLECULAR MEDICINE
(2023)
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
Pediatrics
Agate Bourg, Frederic Gottrand, Benoit Parmentier, Julie Thomas, Anne Lehn, Christian Piolat, Arnaud Bonnard, Rony Sfeir, Julie Lienard, Veronique Rousseau, Myriam Pouzac, Agnes Liard, Philippe Buisson, Aurore Haffreingue, Louis David, Sophie Branchereau, Veronique Carcauzon, Nicolas Kalfa, Marc -David Leclair, Hubert Lardy, Sabine Irtan, Francois Varlet, Thomas Gelas, Diana Potop, Marie Auger-Hunault
Summary: This study evaluated the outcomes of long gap esophageal atresia (EA) compared to non-long gap EA/tracheo-esophageal fistula (TEF) at the ages of 1 and 6 years. The study also assessed whether the initial treatment (delayed primary anastomosis of native esophagus vs. esophageal replacement) influenced mortality and morbidity at these ages. The results showed that the long gap EA group had more complications and longer hospital stay at age 1 year, and digestive complications were more frequent in the long gap group at age 6 years. The study concluded that long gap strongly influenced digestive morbidity at age 6 years.
JOURNAL OF PEDIATRIC SURGERY
(2023)
Article
Hematology
Florian Mourre, Roch Giorgi, Antonio Gallo, Franck Boccara, Eric Bruckert, Alain Carrie, Regis Hankard, Jocelyn Inamo, Sandrine Laboureau, Philippe Moulin, Rene Valero, Sophie Beliard
Summary: Background: Animal studies have shown that fetal exposure to high maternal cholesterol levels during pregnancy increases the risk of aortic atheroma in the offspring. However, little is known about the consequences of this exposure on the development of atherosclerotic cardiovascular disease in humans. This study aimed to investigate whether maternal/paternal inheritance of familial hypercholesterolemia (FH) gene mutation could be associated with subclinical coronary atherosclerosis.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Ewa Mlyczynska, Alice Bongrani, Christelle Rame, Malgorzata Wegiel, Anna Maslanka, Piotr Major, Piotr Zarzycki, Pierre-Henri Ducluzeau, Arnaud De Luca, Celine Bourbao-Tournois, Pascal Froment, Agnieszka Rak, Joelle Dupont
Summary: This study aimed to determine the concentrations of polycyclic aromatic hydrocarbons (PAHs), especially naphthalene, in the plasma and adipose tissue of French and Polish bariatric patients and investigate their correlation with body mass index (BMI), adipokines expression levels, and the effects of naphthalene on cell proliferation and differentiation. The results showed that PAHs and naphthalene could potentially be obesogenic molecules, as naphthalene concentration in adipose tissue was positively correlated with BMI and adipokines expression in French patients. Moreover, naphthalene exposure increased cell proliferation and differentiation, suggesting an involvement in adipogenesis/lipogenesis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Nutrition & Dietetics
Matthew Benson, Jobayer Hossain, Dominique Darmaun
Summary: Previous studies have shown that adolescents with type 1 diabetes mellitus (T1DM) have decreased levels of glutathione (GSH), and that GSH is inversely related to glycemic control. This study aimed to determine if improved glycemic control and dietary antioxidants could restore blood GSH levels in adolescents with poorly controlled T1DM.
NUTRITION RESEARCH
(2023)
Editorial Material
Obstetrics & Gynecology
Mary E. Norton
OBSTETRICAL & GYNECOLOGICAL SURVEY
(2023)
Article
Nutrition & Dietetics
Lucie Marousez, Lea Chantal Tran, Edwina Micours, Matthieu Antoine, Frederic Gottrand, Jean Lesage, Delphine Ley
Summary: Inadequate perinatal nutrition can affect the maturity of the intestinal barrier and the development of the intestinal microbiota in mice. Supplementing with prebiotic fiber appears to improve gut microbiota establishment in postnatal-growth-restricted mice and can lead to changes in intestinal morphology and microbial composition.
Review
Gastroenterology & Hepatology
Paolo Lionetti, Eytan Wine, Rinat Ran Ressler, Gerard J. Minor, Giles Major, Boutaina Zemrani, Frederic Gottrand, Claudio Romano
Summary: Children who require enteral nutrition often experience gastrointestinal symptoms. Fiber-containing enteral formulas can improve bowel function, promote healthy gut microbiota growth, and improve immune homeostasis. However, there is a lack of guidance in clinical practice.
EXPERT REVIEW OF GASTROENTEROLOGY & HEPATOLOGY
(2023)
Article
Health Care Sciences & Services
Philippe Martin, Boris Chapoton, Aurelie Bourmaud, Agnes Dumas, Joelle Kivits, Clara Eyraud, Capucine Dubois, Corinne Alberti, Enora Le Roux
Summary: This study aims to collect and describe proposals for delivering health promotion through existing web-based community games among young people. It found that integrating health promotion interventions into existing web-based community games can improve the health and well-being of young people.
JMIR SERIOUS GAMES
(2023)
Article
Pediatrics
Laura Bouvart, Violette Raoult, Regis Hankard, Arnaud De Luca, ePINUT Study Grp
Summary: The aim of this study was to assess the nutritional status of hospitalized children with cystic fibrosis. The findings showed that the frequency of undernutrition in these children is higher compared to those with other chronic diseases.
ARCHIVES DE PEDIATRIE
(2023)
Review
Pediatrics
Christophe Dupont, Alain Bocquet, Sandra Brancato, Martin Chalumeau, Dominique Darmaun, Arnaud de Luca, Francois Feilet, Marie-Laure Frelut, Dominique Guimber, Alexandre Lapillonne, Agnes Linglart, Noel Peretti, Jean-Christophe Roze, Umberto Simeoni, Dominique Turck, Jean-Pierre Chouraqui
Summary: The role of nutritional interventions and early introduction of allergenic foods for the primary prevention of cow's milk allergy is still debated. Current recommendations suggest avoiding cow's milk formula supplements for breastfed infants, while some authors argue for systematic supplements of cow's milk protein for breastfed children at risk of allergy. The Committee on Nutrition of the French Society of Pediatrics believes that more clinical studies, particularly randomized and placebo-controlled trials, are needed before making a recommendation.
ARCHIVES DE PEDIATRIE
(2023)
Article
Surgery
Arnaud De Luca, Jean-Baptiste Delaye, Gregoire Fauchier, Celine Bourbao-Tournois, Helene Champion, Guillaume Bourdon, Joelle Dupont, Pascal Froment, Diane Dufour, Pierre-Henri Ducluzeau
Summary: This study aimed to investigate the relationship between 3-month FGF21 response and weight loss one year after bariatric surgery. The study found that the magnitude of changes in FGF21 at 3 months after surgery can independently predict one-year weight loss, regardless of the type of surgery.
Article
Multidisciplinary Sciences
Maeva Cotinat, Isabelle Boquet, Moreno Ursino, Cecile Brocard, Elisabeth Jouve, Corinne Alberti, Laurent Bensoussan, Jean-Michel Viton, Frederic Brocard, Olivier Blin
Summary: This clinical trial aims to assess the safety and efficacy of riluzole in reducing spasticity in patients with chronic spinal cord injury. Through a double-blind randomized trial, the impact of riluzole on spasticity will be observed and its safety and pharmacokinetics will be evaluated. This study is the first to systematically investigate the effectiveness of riluzole in reducing spasticity in patients with chronic spinal cord injury.
Article
Critical Care Medicine
Emmanuel Pardo, Thomas Lescot, Jean-Charles Preiser, Pablo Massanet, Antoine Pons, Samir Jaber, Vincent Fraipont, Eric Levesque, Carole Ichai, Laurent Petit, Fabienne Tamion, Garry Taverny, Priscilla Boizeau, Corinne Alberti, Jean-Michel Constantin, Marie-Pierre Bonnet
Summary: This study investigated nutrition practices in the intensive care unit (ICU) and explored the association between early nutrition support (<48 h) in the ICU and patient mortality at day 28 (D28). The results showed that early nutrition support in the ICU was significantly associated with increased mortality at D28, particularly in younger patients with less severe disease. Only early enteral nutrition was found to be associated with increased mortality, contrasting with current guidelines.
Article
Multidisciplinary Sciences
Florine Ruthmann, Nadia Guerouaou, Francis Vasseur, Maria-Claire Migaud, Dominique Deplanque, Frederic Gottrand, Laurent Beghin, Odile Viltart
Summary: Recent studies have found associations between emotional disorders, cognitive impairments, and cardiovascular disorders at the subclinical level. This exploratory study aimed to investigate these relationships in the general population. The results suggest that anxiety and depression are differentially related to cognitive and endothelial functions, but the relationship between cognitive performance and endothelial function was not significant.