Article
Cell & Tissue Engineering
Eun Jung Oh, Prakash Gangadaran, Ramya Lakshmi Rajendran, Hyun Mi Kim, Ji Min Oh, Kang Young Choi, Ho Yun Chung, Byeong-Cheol Ahn
Summary: The study demonstrates the potential of fibroblast-derived EVs in promoting wound healing, suggesting they can be utilized for wound healing therapies.
Review
Biochemistry & Molecular Biology
Thobekile S. Leyane, Sandy W. Jere, Nicolette N. Houreld
Summary: Photobiomodulation (PBM) plays a significant role in the healing of chronic wounds by enhancing tissue regeneration, reducing inflammation, relieving pain, and decreasing oxidative stress.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Immunology
Samuel Knoedler, Sonja Broichhausen, Ruiji Guo, Ruoxuan Dai, Leonard Knoedler, Martin Kauke-Navarro, Fortunay Diatta, Bohdan Pomahac, Hans-Guenther Machens, Dongsheng Jiang, Yuval Rinkevich
Summary: Injuries to the skin initiate a series of synchronized healing processes. Fibroblasts play various roles in endogenous wound repair, including activating innate immune cells, depositing scar tissue, and transporting fascial connective tissue to the wounds. Understanding the diversity and versatility of fibroblasts is crucial for deciphering wound pathologies and developing new treatment approaches.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Katharina Sommer, Heike Jakob, Caroline Reiche, Dirk Henrich, Jasmina Sterz, Johannes Frank, Ingo Marzi, Anna Lena Sander
Summary: Epoxyeicosatrienoic acids (EET) can accelerate diabetic skin wound healing by promoting neoangiogenesis, contributing to the resolution of the initial inflammatory reaction, and facilitating the crucial transition from the inflammatory to proliferative phase in wound healing.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Immunology
Sorcha Daly, Andrew O'Sullivan, Ronan MacLoughlin
Summary: Cellular immunotherapies have emerged as cutting-edge strategies for the prevention and treatment of cancer and infectious diseases, showing promising potential in addressing respiratory viral infections as well. While initially focused on cancer treatment, recent studies have highlighted the efficacy of these therapies in combating respiratory viruses, especially when administered via inhalation routes.
Article
Cell Biology
Shigehiko Yumura, Md Shahabe Uddin Talukder, Mst Shaela Pervin, Md Istiaq Obaidi Tanvir, Takashi Matsumura, Koushiro Fujimoto, Masahito Tanaka, Go Itoh
Summary: This study investigated the mechanism of actin accumulation at the wound site and the involvement of related proteins and signaling pathways in wound repair.
Review
Oncology
Stefan R. Torborg, Zhuxuan Li, Jason E. Chan, Tuomas Tammela
Summary: Cancer cells have plasticity and can rapidly adapt to their environment and evade therapy. This article provides an overview of the fundamental mechanisms underlying cancer cell plasticity, and highlights the crucial role of high-plasticity cell states in cell state transitions and intra-tumoral heterogeneity.
Review
Immunology
Xinchi Qin, Jia He, Xiaoxiang Wang, Jingru Wang, Ronghua Yang, Xiaodong Chen
Summary: Wound repair is a complex problem and current approaches have limitations. Cell-free therapy, particularly MSC-Exos, has shown advancements in wound healing. MSC-Exos, small vesicles discharged by MSCs, contain bioactive constituents that regulate biological functions and promote wound healing. This article provides a comprehensive survey on the function and mechanisms of MSC-Exos in wound healing, emphasizing their beneficial impact on various processes.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Cell Biology
Remy Vu, Suoqin Jin, Peng Sun, Daniel Haensel, Quy Hoa Nguyen, Morgan Dragan, Kai Kessenbrock, Qing Nie, Xing Dai
Summary: This study used single-cell RNA sequencing to analyze the cellular and communication changes in young and aged skin wounds. It found that aged skin wounds have a more pronounced inflammatory response and higher abundance of inflammatory/glycolytic macrophages. The study also predicted differences in cell-cell communication between young and aged skin wounds.
Article
Multidisciplinary Sciences
Daniel Eriksson, Ellen Christine Royrvik, Maribel Aranda-Guillen, Amund Holte Berger, Nils Landegren, Haydee Artaza, Asa Hallgren, Marianne Aardal Grytaas, Sara Strom, Eirik Bratland, Ileana Ruxandra Botusan, Bergithe Eikeland Oftedal, Lars Breivik, Marc Vaudel, Oyvind Helgeland, Alberto Falorni, Anders Palmstrom Jorgensen, Anna-Lena Hulting, Johan Svartberg, Olov Ekwall, Kristian Johan Fougner, Jeanette Wahlberg, Bjorn Gunnar Nedrebo, Per Dahlqvist, Per Morten Knappskog, Anette Susanne Boe Wolff, Sophie Bensing, Stefan Johansson, Olle Kampe, Eystein Sverre Husebye
Summary: This study conducted the first genome-wide association study on Autoimmune Addison's disease, identifying nine risk loci, including two coding variants in the Autoimmune Regulator (AIRE) gene. These findings highlight the importance of central immunological tolerance and explain a significant portion of heritability.
NATURE COMMUNICATIONS
(2021)
Article
Biochemistry & Molecular Biology
Oguz Bolgi, Maria Silva-Garcia, Breyan Ross, Esther Pilla, Vijayalakshmi Kari, Markus Killisch, Melanie Spitzner, Nadine Stark, Christof Lenz, Konstantin Weiss, Laura Donzelli, Mark D. Gorrell, Marian Grade, Jan Riemer, Henning Urlaub, Matthias Dobbelstein, Robert Huber, Ruth Geiss-Friedlander
Summary: N-terminal sequences play important roles in post-translational modifications that impact protein localization, activity, and stability. This study identifies BRCA2 as a substrate of DPP9, and shows that this interaction is induced by DNA damage. The researchers propose that DPP9 functions as a regulator of BRCA2 stability and alters the BRCA2 interactome, providing a possible explanation for its role in cancer.
Article
Biochemistry & Molecular Biology
Nitish Rana, Giuseppe Privitera, Hannah C. Kondolf, Katarzyna Bulek, Susana Lechuga, Carlo De Salvo, Daniele Corridoni, Agne Antanaviciute, Rebecca L. Maywald, Alexander M. Hurtado, Junjie Zhao, Emina H. Huang, Xiaoxia Li, E. Ricky Chan, Alison Simmons, Giorgos Bamias, Derek W. Abbott, Jason D. Heaney, Andrei I. Ivanov, Theresa T. Pizarro
Summary: Increased GSDMB in inflammatory bowel disease affects the restoration of epithelial barrier function and resolution of inflammation. Mechanistic experiments reveal that GSDMB deficiency impairs the increased proliferation and migration of epithelial cells during in vitro wound closure.
Article
Multidisciplinary Sciences
Tristan W. Fowler, Troy L. Mitchell, Claudia Y. Janda, Liqin Xie, Shengjiang Tu, Hui Chen, Haili Zhang, Jingjing Ye, Brian Ouyang, Tom Z. Yuan, Sung-Jin Lee, Maureen Newman, Nikita Tripuraneni, Erica S. Rego, Devin Mutha, Archana Dilip, Meghah Vuppalapaty, Helene Baribault, Wen-Chen Yeh, Yang Li
Summary: The study introduces a novel antibody-based platform for generating potent Wnt mimetics to address conditions like osteoporosis. The synthetic Wnt agonists demonstrate rapid bone building effects in murine models, indicating potential for therapeutic use in bone-related disorders.
NATURE COMMUNICATIONS
(2021)
Article
Biochemistry & Molecular Biology
Minqi Qiu, Bing Li, Dezhi Geng, Qi Xiang, Yanjiao Xin, Qiang Ding, Shunqing Tang
Summary: In this study, the immunostimulating activity of β-glucan was improved by modifying its structure through amination. A-Glu was able to stimulate macrophages and enhance the expression levels of cytokines. The development of a composite sponge consisting of A-Glu and collagen further accelerated wound repair.
INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES
(2022)
Article
Plant Sciences
Fanxing Xu, Jingxian Wu, Yumei Hu, Chun Chu, Wenjun Liu, Xiang Li, Wen Zheng, Weishuo Yang, Boyan Zhao, Jiangxue Guo, Zhenzhong Wang, Ying Jia, Wei Xiao
Summary: This study aimed to evaluate the pro-healing effect of Tongsaimai (TSM) and its underlying mechanisms using experimental validation and network pharmacology analysis. The results showed that TSM enhanced wound contraction, epithelial cell proliferation, collagen deposition, and had antioxidant and anti-inflammatory effects. The network pharmacology analysis revealed the involvement of multiple pathways in TSM's pharmacological actions on wound healing, including VEGF, PI3K/Akt, and MAPK pathways.
JOURNAL OF ETHNOPHARMACOLOGY
(2023)
Letter
Critical Care Medicine
Nuria Olvera, Sandra Casas, Judith M. Vonk, Tamara Garcia, H. Marike Boezen, Maarten van den Berge, Alvar Agusti, Rosa Faner
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
(2023)
Review
Respiratory System
Ekaterina Khaleva, Anna Rattu, Chris Brightling, Andrew Bush, Apostolos Bossios, Arnaud Bourdin, Kian Fan Chung, Rekha Chaudhuri, Courtney Coleman, Sven-Erik Dahlen, Ratko Djukanovic, Antoine Deschildre, Louise Fleming, Stephen J. Fowler, Atul Gupta, Eckard Hamelmann, Simone Hashimoto, Gunilla Hedlin, Gerard H. Koppelman, Erik Melen, Clare S. Murray, Charles Pilette, Celeste Porsbjerg, Katharine C. Pike, Franca Rusconi, Clare Williams, Birgit Ahrens, Peter Alter, Freja Anckers, Maarten van den Berge, Katharina Blumchen, Guy Brusselle, Graham W. Clarke, Danen Cunoosamy, Barbro Dahlen, Piers Dixey, Andrew Exley, Urs Frey, Erol A. Gaillard, Lisa Giovannini-Chami, Jonathan Grigg, Diana Hartenstein, Liam G. Heaney, Bulent Karadag, Susanne Kaul, Inger Kull, Amelia Licari, Anke H. Maitland-van der Zee, Vera Mahler, Ann-Marie M. Schoos, Prasad Nagakumar, Jenny Negus, Hanna Nielsen, James Paton, Marielle Pijnenburg, Valeria Ramiconi, Sofia Romagosa Vilarnau, Stefania Principe, Niels Rutjes, Sejal Saglani, Paul Seddon, Florian Singer, Heribert Staudinger, Steve Turner, Susanne Vijverberg, Tonya Winders, Valentyna Yasinska, Graham Roberts
Summary: The COMSA Working Group developed two Core Outcome Measures (COM) sets for paediatric and adult severe asthma, including FEV1 as z-scores, frequency of severe exacerbations and oral corticosteroid use. These COM sets will inform future clinical trials, enhance comparability of biological therapies' efficacy and effectiveness, and assess their socioeconomic value.
EUROPEAN RESPIRATORY JOURNAL
(2023)
Article
Critical Care Medicine
Gang Wang, Jenny Hallberg, Rosa Faner, Hans-Jacob Koefoed, Simon Kebede Merid, Susanna Klevebro, Sophia Bjorkander, Olena Gruzieva, Goran Pershagen, Marianne van Hage, Stefano Guerra, Matteo Bottai, Antonios Georgelis, Ulrike Gehring, Anna Bergstrom, Judith M. Vonk, Inger Kull, Gerard H. Koppelman, Alvar Agusti, Erik Melen
Summary: Recent evidence emphasizes the significance of optimal lung development during childhood for lifelong health. This study explored the plasticity of individual lung function states during childhood and found that catch-up and growth failure were associated with respiratory symptoms, airflow limitation, and small airway dysfunction in adulthood.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
(2023)
Article
Genetics & Heredity
Luisa Averdunk, Khalid Al-Thihli, Harald Surowy, Hermann-Josef Luedecke, Matthias Drechsler, Gokhan Yigit, Lukasz Smorag, Bassam Al Hallak, Yun Li, Janine Altmueller, Tanja Guthoff, Michael Wallot, Peter Nuernberg, Bernd Wollnik, Rami Abou Jamra, Almundher Al-Maawali, Dagmar Wieczorek
Summary: Protein translation is crucial for cell function, and disruptions in this process can lead to neurodevelopmental disorders. The eEF1A and eEF1B complex are involved in delivering aminoacyl-tRNA to the ribosome. Mutations in the gene EEF1D, which encodes a subunit of the eEF1B complex, have been linked to severe intellectual disability and microcephaly. We identified new variants in EEF1D in two families with developmental delay, microcephaly, spasticity, and other symptoms. These variants affect the GEF domain of EEF1D, suggesting a potential link between disturbed protein translation machinery and neurodevelopmental phenotypes.
Article
Environmental Sciences
Femke Bouma, Gerard Hoek, Gerard H. Koppelman, Judith M. Vonk, Jules Kerckhoffs, Roel Vermeulen, Ulrike Gehring
Summary: This study investigated the association between long-term exposure to ultrafine particles (UFP) and allergic sensitization in children. The findings showed no significant association between UFP exposure and sensitization to inhalant and food allergens. However, NO2, PM2.5, PM2.5 absorbance, and PM10 were found to be associated with sensitization to food allergens.
ENVIRONMENTAL RESEARCH
(2023)
Article
Environmental Sciences
Pauline Kiss, Myrna M. T. de Rooij, Gerard H. Koppelman, Jolanda Boer, Judith M. Vonk, Roel Vermeulen, Lenny Hogerwerf, Hendrika A. M. Sterk, Anke Huss, Lidwien A. M. Smit, Ulrike Gehring
Summary: This study found that adolescents living closer to livestock farms had lower lung function compared to those living farther away. There is an association between closer proximity to farms and poorer lung function.
ENVIRONMENTAL RESEARCH
(2023)
Review
Respiratory System
Ekaterina Khaleva, Anna Rattu, Chris Brightling, Andrew Bush, Arnaud Bourdin, Apostolos Bossios, Kian Fan Chung, Rekha Chaudhuri, Courtney Coleman, Ratko Djukanovic, Sven-Erik Dahlen, Andrew Exley, Louise Fleming, Stephen J. Fowler, Atul Gupta, Eckard Hamelmann, Gerard H. Koppelman, Erik Melen, Vera Mahler, Paul Seddon, Florian Singer, Celeste Porsbjerg, Valeria Ramiconi, Franca Rusconi, Valentyna Yasinska, Graham Roberts
Summary: This study systematically reviewed the definitions of response to biologics for severe asthma and found that although high-quality definitions are available, most are based on minimal clinically important difference (MCID) or minimal important difference (MID), which may not be sufficient to justify the cost-effectiveness of continuing biologics.
Review
Allergy
J. Bousquet, E. Melen, T. Haahtela, G. H. Koppelman, A. Togias, R. Valenta, C. A. Akdis, W. Czarlewski, M. Rothenberg, A. Valiulis, M. Wickman, M. Akdis, D. Aguilar, A. Bedbrook, C. Bindslev-Jensen, S. Bosnic-Anticevich, L. P. Boulet, C. E. Brightling, L. Brussino, E. Burte, M. Bustamante, G. W. Canonica, L. Cecchi, J. C. Celedon, C. Chaves Loureiro, E. Costa, A. A. Cruz, M. Erhola, B. Gemicioglu, W. J. Fokkens, J. Garcia-Aymerich, S. Guerra, J. Heinrich, J. C. Ivancevich, T. Keil, L. Klimek, P. Kuna, M. Kupczyk, V. Kvedariene, D. E. Larenas-Linnemann, N. Lemonnier, K. C. Lodrup Carlsen, R. Louis, M. Makela, M. Makris, M. Maurer, I. Momas, M. Morais-Almeida, J. Mullol, R. N. Naclerio, K. Nadeau, R. Nadif, M. Niedoszytko, Y. Okamoto, M. Ollert, N. G. Papadopoulos, G. Passalacqua, V. Patella, R. Pawankar, N. Pham-Thi, O. Pfaar, F. S. Regateiro, J. Ring, P. W. Rouadi, B. Samolinski, J. Sastre, M. Savoure, N. Scichilone, M. H. Shamji, A. Sheikh, V. Siroux, B. Sousa-Pinto, M. Standl, J. Sunyer, L. Taborda-Barata, S. Toppila-Salmi, M. J. Torres, I. Tsiligianni, E. Valovirta, O. Vandenplas, M. T. Ventura, S. Weiss, A. Yorgancioglu, L. Zhang, A. H. Abdul Latiff, W. Aberer, I. Agache, M. Al-Ahmad, I. Alobid, I. J. Ansotegui, S. H. Arshad, E. Asayag, C. Barbara, A. Baharudin, L. Battur, K. S. Bennoor, E. C. Berghea, K. C. Bergmann, D. Bernstein, M. Bewick, H. Blain, M. Bonini, F. Braido, R. Buhl, R. S. Bumbacea, A. Bush, M. Calderon, M. Calvo-Gil, P. Camargos, L. Caraballo, V. Cardona, W. Carr, P. Carreiro-Martins, T. Casale, A. M. Cepeda Sarabia, R. Chandrasekharan, D. Charpin, Y. Z. Chen, I. Cherrez-Ojeda, T. Chivato, E. Chkhartishvili, G. Christoff, D. K. Chu, C. Cingi, J. Correia de Sousa, C. Corrigan, A. Custovic, G. D'Amato, S. Del Giacco, F. De Blay, P. Devillier, A. Didier, M. do Ceu Teixeira, D. Dokic, H. Douagui, M. Doulaptsi, S. Durham, M. Dykewicz, T. Eiwegger, Z. A. El-Sayed, R. Emuzyte, A. Fiocchi, N. Fyhrquist, R. M. Gomez, M. Gotua, M. A. Guzman, J. Hagemann, S. Hamamah, S. Halken, D. M. G. Halpin, M. Hofmann, E. Hossny, M. Hrubisko, C. Irani, Z. Ispayeva, E. Jares, T. Jartti, E. Jassem, K. Julge, J. Just, M. Jutel, I. Kaidashev, O. Kalayci, A. F. Kalyoncu, P. Kardas, B. Kirenga, H. Kraxner, I. Kull, M. Kulus, S. La Grutta, S. Lau, L. Le Tuyet Thi, M. Levin, B. Lipworth, O. Lourenco, B. Mahboub, E. Martinez-Infante, P. Matricardi, N. Miculinic, N. Migueres, F. Mihaltan, Y. Mohammad, M. Moniuszko, S. Montefort, H. Neffen, K. Nekam, E. Nunes, D. Nyembue Tshipukane, R. O'Hehir, I. Ogulur, K. Ohta, K. Okubo, S. Ouedraogo, H. Olze, I. Pali-Schoell, O. Palomares, K. Palosuo, C. Panaitescu, P. Panzner, H. S. Park, C. Pitsios, D. Plavec, T. A. Popov, F. Puggioni, S. Quirce, M. Recto, M. S. Repka-Ramirez, C. Robalo Cordeiro, N. Roche, M. Rodriguez-Gonzalez, J. Romantowski, N. Rosario Filho, M. Rottem, H. Sagara, F. S. Serpa, Z. Sayah, S. Scheire, P. Schmid-Grendelmeier, J. C. Sisul, D. Sole, M. Soto-Martinez, M. Sova, A. Sperl, O. Spranger, R. Stelmach, C. Suppli Ulrik, M. Thomas, T. To, A. Todo-Bom, P. V. Tomazic, M. Urrutia-Pereira, M. Valentin-Rostan, E. Van Ganse, M. van Hage, T. Vasankari, P. Vichyanond, G. Viegi, D. Wallace, D. Y. Wang, S. Williams, M. Worm, P. Yiallouros, O. Yusuf, F. Zaitoun, M. Zernotti, M. Zidarn, J. Zuberbier, J. A. Fonseca, T. Zuberbier, J. M. Anto
Summary: Asthma, rhinitis, and atopic dermatitis are interrelated clinical phenotypes. The concept of one-airway-one-disease, which simplifies the links between upper and lower airway allergic diseases, needs to be reassessed based on new data.
Article
Public, Environmental & Occupational Health
Sophie Kienhorst, Moniek H. D. van Aarle, Quirijn Jobsis, Michiel A. G. E. Bannier, Elin T. G. H. Kersten, Jan Damoiseaux, Onno C. P. van Schayck, Peter J. F. M. Merkus, Gerard Koppelman, Frederik-Jan van Schooten, Agnieszka Smolinska, Edward Dompeling
Summary: This study evaluates the application of a breath test in preschool children with asthma-like symptoms. The test predicts a diagnosis of asthma by analyzing the exhaled breath. The study also explores the relationship between other biological parameters and the odors in the breath.
Article
Allergy
Wouter W. de Weger, Vibeke M. Bruinenberg, Jeroen H. Gerrits, Lidy van Lente, Catherina E. M. Herpertz, Gerbrich N. van Der Meulen, Aline B. Sprikkelman, Gerard H. Koppelman, Arvid W. A. Kamps
CLINICAL AND EXPERIMENTAL ALLERGY
(2023)
Article
Genetics & Heredity
Franziska Schnabel, Elisabeth Schuler, Almundher Al-Maawali, Ankur Chaurasia, Steffen Syrbe, Adila Al-Kindi, Gandham SriLakshmi Bhavani, Anju Shukla, Janine Altmueller, Peter Nuernberg, Siddharth Banka, Katta M. Girisha, Yun Li, Bernd Wollnik, Goekhan Yigit
Summary: This study reports five patients from three families with a disorder characterized by congenital joint contractures affecting multiple body parts, including shoulder, elbow, hand, hip, knee, and foot, as well as scoliosis, reduced palmar and plantar skin folds, microcephaly, and facial dysmorphism. Exome sequencing identified homozygous truncating variants in the FILIP1 gene in all patients. FILIP1 is involved in the regulation of filamin homeostasis and is essential for cortical cell migration and muscle cell differentiation.
Article
Genetics & Heredity
Lise Mangiante, Nicolas Alcala, Alexandra Sexton-Oates, Alex Di Genova, Abel Gonzalez-Perez, Azhar Khandekar, Erik N. Bergstrom, Jaehee Kim, Xiran Liu, Ricardo Blazquez-Encinas, Colin Giacobi, Nolwenn Le Stang, Sandrine Boyault, Cyrille Cuenin, Severine Tabone-Eglinger, Francesca Damiola, Catherine Voegele, Maude Ardin, Marie-Cecile Michallet, Lorraine Soudade, Tiffany M. Delhomme, Arnaud Poret, Marie Brevet, Marie-Christine Copin, Sophie Giusiano-Courcambeck, Diane Damotte, Cecile Girard, Veronique Hofman, Paul Hofman, Jerome Mouroux, Charlotte Cohen, Stephanie Lacomme, Julien Mazieres, Vincent Thomas de Montpreville, Corinne Perrin, Gaetane Planchard, Nathalie Rousseau, Isabelle Rouquette, Christine Sagan, Arnaud Scherpereel, Francoise Thivolet, Jean-Michel Vignaud, Didier Jean, Anabelle Gilg Soit Ilg, Robert Olaso, Vincent Meyer, Anne Boland-Auge, Jean-Francois Deleuze, Janine Altmuller, Peter Nuernberg, Alejandro Ibanez-Costa, Justo P. Castano, Sylvie Lantuejoul, Akram Ghantous, Charles Maussion, Pierre Courtiol, Hector Hernandez-Vargas, Christophe Caux, Nicolas Girard, Nuria Lopez-Bigas, Ludmil B. Alexandrov, Francoise Galateau-Salle, Matthieu Foll, Lynnette Fernandez-Cuesta
Summary: By integrating large-scale whole-genome sequencing data, transcriptomic data, and epigenomic data, researchers found that the current World Health Organization classification only explains 10% of the molecular differences between patients. Instead, the MESOMICS project establishes a morphomolecular classification of malignant pleural mesothelioma based on four dimensions: ploidy, tumor cell morphology, adaptive immune response, and CpG island methylator profile. These findings reveal the interplay between MPM functional biology and its genomic history and provide new insights into the variations observed in the clinical behavior of MPM patients.
Article
Genetics & Heredity
Simone Schroeder, Goekhan Yigit, Yun Li, Janine Altmueller, Hans-Martin Buettel, Barbara Fiedler, Christoph Kretzschmar, Peter Nuernberg, Juergen Seeger, Valentina Serpieri, Enza Maria Valente, Bernd Wollnik, Eugen Boltshauser, Knut Brockmann
Summary: Congenital ocular motor apraxia (COMA) is a heterogeneous eye movement disorder with various underlying genetic causes. In this study, researchers re-evaluated the neuroimaging features of 21 patients with COMA and discovered a novel sign, molar tooth sign (MTS), leading to a reassignment of diagnosis to Joubert syndrome (JBTS) in some patients. Using genetic analysis, pathogenic variants were identified in 81% of the patients, involving nine different genes. A diagnostic algorithm for COMA was proposed based on these findings.
ORPHANET JOURNAL OF RARE DISEASES
(2023)
Article
Multidisciplinary Sciences
Florian Erger, Rajindra P. Aryal, Bjoern Reusch, Yasuyuki Matsumoto, Robert Meyer, Junwei Zeng, Cordula Knopp, Maxence Noel, Lukas Muerner, Andrea Wenzel, Stefan Kohl, Nikolai Tschernoster, Gunter Rappl, Isabelle Rouvet, Jutta Schroeder-Braunstein, Felix S. Seibert, Holger Thiele, Martin G. Haeusler, Lutz T. Weber, Maike Buettner-Herold, Miriam Elbracht, Sandra F. Cummings, Janine Altmueller, Sandra Habbig, Richard D. Cummings, Bodo B. Beck
Summary: This study identified a novel molecular chaperonopathy causing impaired protein O-glycosylation. The patients had decreased activity of T-synthase, an enzyme that synthesizes the T-antigen. The chaperone Cosmc, encoded by the C1GALT1C1 gene, was found to be responsible for the T-synthase function.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2023)
Article
Multidisciplinary Sciences
Jacobien Niebuur, Judith M. Vonk, Yihui Du, Geertruida H. de Bock, Gerton Lunter, Paul F. M. Krabbe, Behrooz Z. Alizadeh, Harold Snieder, Nynke Smidt, Marike Boezen, Eva Corpeleijn
Summary: This study conducted in the northern Netherlands found that patients with multimorbidity are more likely to have unhealthy lifestyle factors such as physical inactivity, chronic stress, and inadequate sleep. These findings are of great importance for improving the lifestyle of patients with multiple chronic diseases.