Article
Biochemistry & Molecular Biology
Michela Starace, Francesca Pampaloni, Francesca Bruni, Federico Quadrelli, Stephano Cedirian, Carlotta Baraldi, Cosimo Misciali, Alberto Di Martino, Patrizia Sabatelli, Luciano Merlini, Bianca Maria Piraccini
Summary: This study describes the clinical, trichoscopic, and histological characteristics of scalp changes in patients with COL VI mutations and estimates their prevalence. It found that patients with COL VI mutations had hair loss and scalp itching, as well as different scalp pathologies. Additionally, more patients reported scalp disorders or itching, suggesting a potential association between COL VI mutations and scalp involvement that warrants further investigation.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Pharmacology & Pharmacy
Diego Alejandro Dri, Carlotta Marianecci, Maria Carafa, Elisa Gaucci, Donatella Gramaglia
Summary: Recent advancements in drug delivery have led to an increase in innovation and perspectives, but there is still limited information available regarding the presence of surfactants, nanomedicines, and nanocarriers in investigational medicinal products submitted for clinical trial authorizations. Analyzing data from the Clinical Trial Office of the Italian Medicines Agency (AIFA) provides transparency and improves the availability of relevant information. The findings offer potential indications for regulators to drive innovation safely and effectively within a robust regulatory framework for upcoming developments in clinical trials.
Article
Clinical Neurology
Anna K. Y. Kwong, Yanmin Zhang, Ronnie S. L. Ho, Yuan Gao, Xu Ling, Mandy H. Y. Tsang, H. M. Luk, Brian H. Y. Chung, Carsten G. Bonnemann, Asif Javed, Sophelia H. S. Chan
Summary: This study reports the clinical and genetic characteristics of 13 Chinese patients with Collagen VI-related myopathies. Fifteen putative disease causal variants were identified in three genes encoding collagen VI subunits. The study provides valuable data explaining the varying severity of phenotypes among ethnically Chinese patients with Collagen VI-related myopathies.
NEUROMUSCULAR DISORDERS
(2023)
Review
Medical Informatics
Finlay J. Pearce, Samantha Cruz Rivera, Xiaoxuan Liu, Elaine Manna, Alastair K. Denniston, Melanie J. Calvert
Summary: This systematic evaluation examines the use of patient-reported outcome measures (PROMs) in clinical trials for artificial intelligence (AI) technologies. The study found that although there is an increase in the number of clinical trials for AI health technologies, the use of PROMs is still lacking. The most common clinical areas where PROMs are used include digestive system health and musculoskeletal health.
LANCET DIGITAL HEALTH
(2023)
Article
Fisheries
Yibin Yang, Jingjin Xia, Yongtao Liu, Jing Dong, Ning Xu, Qiuhong Yang, Shun Zhou, Xiaohui Ai
Summary: This study assessed the effect of Bacillus amyloliquefaciens on the microbiota in tanks with various freshwater fish species. It was found that the addition of B. amyloliquefaciens reduced levels of certain pollutants in the water, but also altered the bacterial diversity in the tanks.
AQUACULTURE REPORTS
(2021)
Article
Multidisciplinary Sciences
Insiyah Campwala, Francis X. Guyette, Joshua B. Brown, Mark H. Yazer, Brian J. Daley, Richard S. Miller, Brian G. Harbrecht, Jeffrey A. Claridge, Herbert A. Phelan, Brian Eastridge, Raminder Nirula, Gary A. Vercruysse, Terence O'Keeffe, Bellal Joseph, Matthew D. Neal, Brian S. Zuckerbraun, Jason L. Sperry
Summary: A secondary analysis of data from two large prehospital randomized controlled trials was conducted to study the effects of multiorgan failure (MOF) and nosocomial infection (NI) on delayed mortality and resource utilization in severely injured patients. MOF was found to be an independent predictor of mortality, while NI was associated with higher resource utilization.
SCIENTIFIC REPORTS
(2023)
Article
Rheumatology
Prateek C. Gandiga, Daniela Ghetie, Elizabeth Anderson, Rohit Aggrawal
Summary: This review provides a practical guide for using intravenous immunoglobulin (IVIG) and subcutaneous immunoglobulin (SCIG) in the management of IIM. IVIG has been proven safe and effective against IIM in recent studies, and it can be used as a first-line or add-on treatment for various types of IIM. However, accessibility and cost remain limiting factors.
CURRENT RHEUMATOLOGY REPORTS
(2023)
Article
Medicine, General & Internal
Karl Anders Knutsson, Paola Noemi Genovese, Giorgio Paganoni, Oriella Ambrosio, Giulio Ferrari, Arianna Zennato, Madeleine Cataldo, Michela Caccia, Paolo Rama
Summary: A large retrospective study evaluated the safety of a post-operative therapy protocol after epithelium-off corneal collagen cross-linking (CXL) and found that the treatment protocol was safe and not associated with the development of microbial keratitis.
JOURNAL OF CLINICAL MEDICINE
(2022)
Review
Chemistry, Multidisciplinary
Sonia M. G. Pires, Rita Silva Reis, Susana M. Cardoso, Raffaele Pezzani, Esteban Paredes-Osses, Ainur Seilkhan, Alibek Ydyrys, Miquel Martorell, Eda Sonmez Gurer, William N. Setzer, Ahmad Faizal Abdull Razis, Babagana Modu, Daniela Calina, Javad Sharifi-Rad
Summary: Phytates, found in plants, are organic phosphorus compounds that can form chelates with cations like calcium, iron, and zinc. Recent studies have shown that phytates have antioxidant and anticancer potential, but they can also reduce the absorption of important minerals in the human body.
FRONTIERS IN CHEMISTRY
(2023)
Article
Clinical Neurology
Rocio N. Villar-Quiles, Sandra Donkervoort, Alix de Becdelievre, Corine Gartioux, Valerie Jobic, A. Reghan Foley, Riley M. McCarty, Ying Hu, Rita Menassa, Laurence Michel, Gaelle Gousse, Arnaud Lacour, Philippe Petiot, Nathalie Streichenberger, Ariane Choumert, Lea Declerck, J. A. Urtizberea, Guilhem Sole, Alain Furby, Matthieu Cerino, Martin Krahn, Emmanuelle Campana-Salort, Ana Ferreiro, Bruno Eymard, Carsten G. Bonnemann, Diana Bharucha-Goebel, Charlotte J. Sumner, Anne M. Connolly, Pascale Richard, Valerie Allamand, Corinne Metay, Tanya Stojkovic
Summary: This study identified distinct phenotypical and secretion patterns associated with the COL6A3 missense variant c.7447A>G among 16 patients. Patients with compound heterozygosity for this variant exhibited typical COL6-RM features, while homozygous patients showed variability in clinical and imaging findings.
JOURNAL OF NEUROMUSCULAR DISEASES
(2021)
Article
Veterinary Sciences
Marzia Stabile, Luca Lacitignola, Rossella Samarelli, Marco Fiorentino, Antonio Crovace, Francesco Staffieri
Summary: The aim of this study was to evaluate the clinical efficacy of undenatured type II collagen (UC-II (R)), compared to cimicoxib and their combination, in dogs with osteoarthritis. The results showed that UC-II (R), cimicoxib, and their combination significantly reduced clinical signs associated with osteoarthritis.
RESEARCH IN VETERINARY SCIENCE
(2022)
Article
Plant Sciences
Stefano Ambrosini, Davide Sega, Chiara Santi, Anita Zamboni, Zeno Varanini, Tiziana Pandolfini
Summary: The study demonstrates that a commercial PH derived from bovine collagen has the capacity to mitigate drought, hypoxic, and Fe deficiency stress in Zea mays, by enhancing root growth and absorption area, as well as aiding in faster recovery from iron deficiency. Various mechanisms of action and interactions with iron are discussed as potential stress protectants in Fe-deficient conditions.
FRONTIERS IN PLANT SCIENCE
(2021)
Review
Chemistry, Physical
Carlo De Annuntiis, Luca Testarelli, Renzo Guarnieri
Summary: This article evaluates the effectiveness of xenogenic collagen matrices (XCMs) and collagen-based matrices derived from porcine dermis (PDXCMs) as alternatives in plastic peri-implant procedures for increasing soft tissue volume around dental implants. The results show that XCMs are an effective alternative to CTGs, associated with lower patient morbidity and operative times.
Article
Biochemistry & Molecular Biology
Yanan Luo, Fulin Tao, Jing Wang, Yandong Chai, Chaohua Ren, Yuanfei Wang, Tong Wu, Zhenyu Chen
Summary: In this study, we prepared a series of novel hemostatic sponges using tilapia skin, a marine biological resource, and found that the collagen sponge exhibited optimal hemostasis performance by accelerating clotting and enhancing blood absorption capability. These sponges provide a novel class of alternatives for hemostasis in acute wounds with broad application prospects.
INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES
(2023)
Article
Medicine, Research & Experimental
Jingzi Zhong, Yanshu Xie, Yiwu Dang, Jiapeng Zhang, Yingru Song, Dan Lan
Summary: A novel splice-site mutation in the COL6A2 gene was found to be associated with Bethlem myopathy, leading to aberrant splicing and premature termination of protein translation. The study demonstrated the potential of RNA-sequencing and immunocytochemistry in uncovering the effects and mechanisms of disease-causing mutations.
INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
(2021)
Review
Biochemistry & Molecular Biology
Paolo Bernardi, Michela Carraro, Giovanna Lippe
Summary: The basis of mitochondrial permeability transition, a Ca2+-dependent permeability increase of the inner membrane, has been successfully defined, and it has been recognized as a regulator of mitochondrial ion homeostasis and a mechanism of cell death. However, there are still controversial mechanisms regarding the permeability transition that require further research for explanation.
Article
Cell Biology
Patrizia Romani, Nunzia Nirchio, Mattia Arboit, Vito Barbieri, Anna Tosi, Federica Michielin, Soichi Shibuya, Thomas Benoist, Danchen Wu, Charles Colin Thomas Hindmarch, Monica Giomo, Anna Urciuolo, Flavia Giamogante, Antonella Roveri, Probir Chakravarty, Marco Montagner, Tito Cali, Nicola Elvassore, Stephen L. Archer, Paolo De Coppi, Antonio Rosato, Graziano Martello, Sirio Dupont
Summary: Romani et al. found that cells on soft extracellular matrix have increased mitochondrial fission and production of mitochondrial reactive oxygen species, which may contribute to resistance to chemotherapy drugs in breast cancer cells. The mechanical properties of the tissue also influence the response to treatment. The study suggests that a soft extracellular matrix enhances redox homeostasis and resistance to oxidative stress and chemotherapy drugs.
NATURE CELL BIOLOGY
(2022)
Review
Cell Biology
Paolo Raffa, Maria Easler, Anna Urciuolo
Summary: Skeletal muscle is reliant on the clear three-dimensional organization of myofibers and communication between myofibers and the nervous system for development and function. Various pathologies affecting muscle function are linked to alterations in the interaction between motor neurons and myofibers. Recent research indicates that three-dimensionality and integration of multiple cell types are essential for unveiling pathophysiologically relevant phenotypes in skeletal muscle modeling.
NEURAL REGENERATION RESEARCH
(2022)
Article
Biochemistry & Molecular Biology
Giuseppe Cannino, Andrea Urbani, Marco Gaspari, Mariaconcetta Varano, Alessandro Negro, Antonio Filippi, Francesco Ciscato, Ionica Masgras, Christoph Gerle, Elena Tibaldi, Anna Maria Brunati, Giorgio Colombo, Giovanna Lippe, Paolo Bernardi, Andrea Rasola
Summary: This study reveals that the mitochondrial chaperone TRAP1 interacts with F-ATP synthase, increasing its catalytic activity and counteracting the inhibitory effect of CyPD. Additionally, TRAP1 directly inhibits the channel activity of F-ATP synthase and reverses PTP induction by CyPD, thus preventing mitochondrial depolarization and cell death. These findings highlight the importance of TRAP1 in cell bioenergetics and survival.
CELL DEATH AND DIFFERENTIATION
(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)
Editorial Material
Cell Biology
Paolo Bernardi, Evgeny Pavlov
Article
Cell Biology
Michela Carraro, Paolo Bernardi
Summary: The mitochondrial Permeability Transition Pore (PTP) is a Ca2+ activated mega-channel involved in mitochondrial damage and cell death. The physiological implications of transient PTP openings, also called flickering behavior, are still poorly understood. In this review, we discuss the possible role of PTP as a Ca2+ release pathway and the consequences of its forced inhibition, as well as the hypothesis of the existence of other permeability pathways in mitochondrial physiology.
Review
Biochemistry & Molecular Biology
Alberto Di Martino, Matilde Cescon, Claudio D'Agostino, Francesco Schilardi, Patrizia Sabatelli, Luciano Merlini, Cesare Faldini
Summary: Collagen VI has diverse functions in tissues, including mechanical roles, cytoprotective functions, and regulation of cell differentiation and autophagy. Mutations in COL6A1, COL6A2, and COL6A3 genes cause muscular disorders such as UCMD, BM, and MM, which present with muscle wasting and weakness, joint contractures, and respiratory compromise. Currently, effective therapeutic strategies are lacking, and the effects of collagen VI mutations on other tissues are poorly understood. This review aims to outline the role of collagen VI in the musculoskeletal system and provide an update on its tissue-specific functions to bridge the knowledge gap between scientists and clinicians managing collagen VI-related myopathies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Michela Starace, Francesca Pampaloni, Francesca Bruni, Federico Quadrelli, Stephano Cedirian, Carlotta Baraldi, Cosimo Misciali, Alberto Di Martino, Patrizia Sabatelli, Luciano Merlini, Bianca Maria Piraccini
Summary: This study describes the clinical, trichoscopic, and histological characteristics of scalp changes in patients with COL VI mutations and estimates their prevalence. It found that patients with COL VI mutations had hair loss and scalp itching, as well as different scalp pathologies. Additionally, more patients reported scalp disorders or itching, suggesting a potential association between COL VI mutations and scalp involvement that warrants further investigation.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(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)
Review
Cell Biology
Elena Frigo, Ludovica Tommasin, Giovanna Lippe, Michela Carraro, Paolo Bernardi
Summary: This article introduces the formation of Ca2+-activated, high-conductance channels by F1FO (F)-ATP synthase and adenine nucleotide translocase (ANT) in the inner membrane of mitochondria from various eukaryotes. The permeability transition (PT), a Ca2+-dependent increase in permeability in the inner mitochondrial membrane, and its molecular mechanisms have been challenging for scientists for the past 70 years. The features of the PT (or lack thereof) in mammals, yeast, fruit flies, brine shrimp, and nematodes, as well as the intrinsic pathway of apoptosis and other forms of cell death, are discussed in this review.
Article
Cell Biology
Lisa Gambarotto, Samuele Metti, Matteo Corpetti, Martina Baraldo, Patrizia Sabatelli, Silvia Castagnaro, Matilde Cescon, Bert Blaauw, Paolo Bonaldo
Summary: COL6-related myopathies (COL6-RM) are inherited muscle disorders caused by mutations of COL6 genes, characterized by early-onset muscle weakness. Targeting autophagy through dietary spermidine administration has shown beneficial effects in col6a1(-/-) mice and COL6-RM patients. A 100-day-long spermidine regimen rescues muscle strength in col6a1(-/-) mice and improves mitochondria and neuromuscular junction integrity, suggesting its potential application in clinical trials for COL6-RM.
Review
Biochemistry & Molecular Biology
Paolo Bernardi, Christoph Gerle, Andrew P. Halestrap, Elizabeth A. Jonas, Jason Karch, Nelli Mnatsakanyan, Evgeny Pavlov, Shey-Shing Sheu, Alexander A. Soukas
Summary: The mitochondrial permeability transition (mPT) is a Ca2+-dependent and cyclophilin D (CypD)-facilitated increase in inner mitochondrial membrane permeability. It is mediated by the mitochondrial permeability transition pore (mPTP), which allows diffusion of molecules up to 1.5 kDa in size. Sustained mPTP opening leads to mitochondrial swelling and cell death, while transient mPTP opening can have physiological roles such as changes in mitochondrial bioenergetics and Ca2+ efflux.
CELL DEATH AND DIFFERENTIATION
(2023)
Article
Biochemistry & Molecular Biology
Luciano Merlini, Patrizia Sabatelli, Francesca Gualandi, Edoardo Redivo, Alberto Di Martino, Cesare Faldini
Summary: In this study, pathogenetic mechanism recognition and proof-of-concept clinical trials were conducted in patients with collagen VI-related myopathies to identify innovative clinical data for future trials. The findings showed that knee extension strength was poor in BM patients, while elbow flexion retention was even worse. All MM patients had contractures in both axial and limb muscles, limiting their range of motion. The immunofluorescence analysis confirmed the correlation between collagen VI defects and the clinical phenotype severity. The progressive increase in collagen VI expression with age should be considered in genetic correction trials.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemical Research Methods
Michele Brischigliaro, Elena Frigo, Erika Fernandez-Vizarra, Paolo Bernardi, Carlo Viscomi
Summary: This article presents a protocol for isolating mitochondria from various D. melanogaster samples and measuring the activity of MRC complexes I-V and citrate synthase (CS) using UV-VIS spectrophotometry, which is crucial for diagnostics and research purposes.