Article
Clinical Neurology
Anthony A. Amato, Michael G. Hanna, Pedro M. Machado, Umesh A. Badrising, Hector Chinoy, Olivier Benveniste, Ananda Krishna Karanam, Min Wu, Laszlo B. Tanko, Agnes Annette Schubert-Tennigkeit, Dimitris A. Papanicolaou, Thomas E. Lloyd, Merrilee Needham, Christina Liang, Katrina A. Reardon, Marianne de Visser, Dana P. Ascherman, Richard J. Barohn, Mazen M. Dimachkie, James A. L. Miller, John T. Kissel, Bjorn Oskarsson, Nanette C. Joyce, Peter Van den Bergh, Jonathan Baets, Jan L. De Bleecker, Chafic Karam, William S. David, Massimiliano Mirabella, Sharon P. Nations, Hans H. Jung, Elena Pegoraro, Lorenzo Maggi, Carmelo Rodolico, Massimiliano Filosto, Aziz Shaibani, Kumaraswamy Sivakumar, Namita A. Goyal, Madoka Mori-Yoshimura, Satoshi Yamashita, Naoki Suzuki, Masashi Aoki, Masahisa Katsuno, Hirokazu Morihata, Kenya Murata, Hiroyuki Nodera, Ichizo Nishino, Carla D. Romano, Valerie S. L. Williams, John Vissing, Lixin Zhang Auberson
Summary: The study assessed the long-term effects of bimagrumab on participants with sIBM and found that extended treatment up to 2 years was safe and well-tolerated, but did not provide significant clinical benefits in terms of mobility improvement. The extension study was terminated early due to the core study not meeting its primary endpoint.
Article
Clinical Neurology
Sinja Vogt, Felix Kleefeld, Corinna Preusse, Gabriele Arendt, Stefan Bieneck, Anna Brunn, Martina Deckert, Benjamin Englert, Hans-Hilmar Goebel, Anja Masuhr, Eva Neuen-Jacob, Cornelia Kornblum, Jens Reimann, Federica Montagnese, Benedikt Schoser, Werner Stenzel, Katrin Hahn
Summary: This study compared the clinical, histopathological, and transcriptomic characteristics of sporadic inclusion body myositis (sIBM) and HIV-associated IBM (HIV-IBM). The presence of KLRG1(+) cells was found to differentiate sIBM from HIV-IBM, suggesting a longer disease duration and T-cell stimulation in sIBM.
JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Seiya Noda, Ayuka Murakami, Tomoyuki Kazuta, Satoko Hirano, Seigo Kimura, Hirotaka Nakanishi, Koji Matsuo, Koyo Tsujikawa, Shinichiro Yamada, Madoka Iida, Haruki Koike, Satoshi Kuru, Masahisa Katsuno
Summary: Reinnervation after denervation is common in sIBM patients, and it is associated with disease duration and short-term response to therapy. Patients with denervation had higher levels of Chrng and MuSK mRNA and a smaller proportion responded to immunosuppressive therapies compared to those without denervation.
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2022)
Article
Cell Biology
Matteo Lucchini, Lorenzo Maggi, Elena Pegoraro, Massimiliano Filosto, Carmelo Rodolico, Giovanni Antonini, Matteo Garibaldi, Maria Lucia Valentino, Gabriele Siciliano, Giorgio Tasca, Valeria De Arcangelis, Chiara De Fino, Massimiliano Mirabella
Summary: The study confirmed the low sensitivity and high specificity of anti-cN1A antibodies in s-IBM patients, with a high positive predictive value. The presence of anti-CN1A antibodies was identified as a marker for patients at greater risk of more severe swallowing problems.
Article
Rheumatology
Sarah H. Chung, Ethan I. Bent, Michael D. Weiss, Gregory C. Gardner
Summary: This study reports on patients with a positive SSA antibody and diagnosis of sIBM at a large academic medical center, with 8 patients having both pSS and sIBM, and 2 additional sIBM patients being SSA antibody positive without other pSS features. The average time from symptom onset to sIBM diagnosis was 5.4 years, with patients often being given alternative diagnoses prior to sIBM identification, and no patients showing a durable response to immunosuppressive therapy.
CLINICAL RHEUMATOLOGY
(2021)
Article
Medicine, General & Internal
Fazal Dalal, Hussain Dalal, Gina McNew
Summary: Sporadic inclusion body myositis (sIBM) is a rare autoimmune disease characterized by progressive weakness and muscular atrophy in the extremities. Although the exact pathophysiology is unclear, some studies suggest that cytotoxic T cells (CD8+) are involved, leading to an autoimmune response. This case report highlights a rare implication of COVID-19, as it was found to be associated with the development of sIBM in a patient with chronic myalgias.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2022)
Article
Sport Sciences
Anders N. Jorgensen, Kasper Y. Jensen, Jakob L. Nielsen, Ulrik Frandsen, Lars G. Hvid, Mette Bjornshauge, Louise P. Diederichsen, Per Aagaard
Summary: In patients with sIBM, low-load blood-flow restricted (BFR) resistance training can increase knee extensor strength in stronger leg and maintain maximal leg extensor power, while non-exercising patients experience decreased knee extensor strength. No changes in thigh lean mass were observed post-training, and voluntary muscle activation declined in both the BFR training and non-exercising groups.
SCANDINAVIAN JOURNAL OF MEDICINE & SCIENCE IN SPORTS
(2022)
Article
Clinical Neurology
Satoshi Yamashita, Nozomu Tawara, Ziwei Zhang, Shunya Nakane, Kazuma Sugie, Naoki Suzuki, Ichizo Nishino, Masashi Aoki
Summary: This study investigated the pathogenic properties of autoantibodies against cN1A in sporadic inclusion body myositis (sIBM) using active cN1A peptide immunisation. The results showed that mice injected with cN1A peptide exhibited weight loss, decreased motor activity, and histological changes resembling sIBM. Therefore, the study concluded that anti-cN1A autoantibodies have pathogenic properties in causing sIBM-like histological changes.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2023)
Article
Clinical Neurology
Kirsty Lu, Keir X. X. Yong, Iwona Skorupinska, Stephanie Deriziotis, Jessica D. Collins, Susie M. D. Henley, Michael G. Hanna, Martin N. Rossor, Basil H. Ridha, Pedro M. Machado
Summary: A study on cognitive performance of patients with sporadic inclusion body myositis (IBM) found that their memory and executive function did not differ from normative data, and there was no evidence of associations between cognitive composite and disease duration or level of disability.
Article
Clinical Neurology
Mazen Alamr, Margherita Milone, Elie Naddaf, Steven R. Ytterberg, Stephanie J. Steel, Lyell K. Jones, Teerin Liewluck
Summary: This study identified five sIBM patients with extracellular amyloid deposits in muscle, with a mean age of 74.8 years at diagnosis. All patients presented with typical sIBM weakness pattern, without peripheral neuropathy evidence.
Article
Clinical Neurology
Bhaskar Roy, Adeel Zubair, Kurt Petschke, Kevin C. O'Connor, A. David Paltiel, Richard J. Nowak
Summary: This study compared the patient-reported IBM-PIC score with the physician-obtained IBM-FRS score and found that IBM-PIC is a reliable indicator of IBM-FRS score. The online platform is anticipated to be a valuable tool for assessing IBM severity and monitoring disease progression remotely.
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2022)
Article
Clinical Neurology
Maren Winkler, Christina von Landenberg, Karin Kappes-Horn, Stephan Neudecker, Cornelia Kornblum, Jens Reimann
Summary: This study reviewed diagnostic and treatment approaches for sIBM and PM-Mito, emphasizing the importance of muscle histology in differential diagnosis. Some patients developed sIBM after immunosuppressive treatment, while at least 50% of PM-Mito patients showed positive response to immunosuppression.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
(2021)
Article
Biochemistry & Molecular Biology
Brunetta Porcelli, Miriana d'Alessandro, Latika Gupta, Silvia Grazzini, Nila Volpi, Maria Romana Bacarelli, Federica Ginanneschi, Giovanni Biasi, Francesca Bellisai, Marta Fabbroni, David Bennett, Claudia Fabiani, Luca Cantarini, Elena Bargagli, Bruno Frediani, Edoardo Conticini
Summary: This study assessed the diagnostic accuracy of anti-cN1A antibodies in patients with suspected IIM and evaluated the agreement between line immunoassay (LIA) and enzyme-linked immunoassay (ELISA). The results showed excellent concordance between LIA and ELISA for detecting anti-cN1A antibodies, suggesting that LIA could be a rapid and useful adjunct, and it could even replace ELISA for cN1A assay.
Article
Clinical Neurology
Sara Nagy, Alaa Khan, Pedro M. Machado, Henry Houlden
Summary: Inclusion body myositis (IBM) is a slowly progressive idiopathic inflammatory myopathy characterized by asymmetric muscle weakness primarily affecting the finger flexors and knee extensors. Limited data exists on the genetic susceptibility of sporadic IBM, despite some genes being associated with hereditary IBM.
JOURNAL OF NEUROLOGY
(2023)
Article
Rheumatology
Renaud Felten, Margherita Giannini, Benoit Nespola, Beatrice Lannes, Dan Levy, Raphaele Seror, Olivier Vittecoq, Eric Hachulla, Aleth Perdriger, Philippe Dieude, Jean-Jacques Dubost, Anne-Laure Fauchais, Veronique Le Guern, Claire Larroche, Emmanuelle Dernis, Dewi Guellec, Divi Cornec, Jean Sibilia, Xavier Mariette, Jacques-Eric Gottenberg, Alain Meyer
Summary: The study aimed to investigate the prevalence, characteristics, and treatment response of myositis in primary SS (pSS) patients. Results revealed that approximately 1% of the 395 pSS patients studied had myositis. Patients with suspected myositis had higher patient-reported scores, while those with confirmed myositis had a longer disease duration.
Letter
Rheumatology
Pedro M. Machado, Martin Schaefer, Anja Strangfeld, Laure Gossec, Milena Gianfrancesco, Saskia Lawson-Tovey, Elsa F. Mateus, Loreto Carmona, Kimme L. Hyrich, Philip C. Robinson, Jinoos Yazdany
ANNALS OF THE RHEUMATIC DISEASES
(2023)
Article
Genetics & Heredity
Ken Saida, Reza Marootain, Toru Sengoku, Tadahiro Mitani, Alistair T. Pagnamenta, Dana Marafi, Maha S. Zaki, Thomas J. O'Brian, Ehsan Ghayoor Karimiani, Rauan Kaiyrzhanov, Marina Takizawa, Sachiko Ohori, Huey Yin Leong, Gulsen Akay, Hamid Galehdari, Mina Zamani, Ratna Romy, Christopher J. Carroll, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Shima Imannezhad, Hadis Malek, Najmeh Ahangari, Hoda Tomoum, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, David Murphy, Natalia Dominik, Hasnaa M. Elbendary, Karima Rafat, Sanem Yilmaz, Seda Kanmaz, Mine Serin, Deepa Krishnakumar, Alice Gardham, Anna Maw, Tekki Sreenivasa Rao, Sarah Alsubhi, Myriam Srour, Daniela Buhas, Tamison Jewett, Rachel E. Goldberg, Hanan Shamseldin, Eirik Frengen, Doriana Misceo, Petter Stromme, Jose Ricardo Magliocco Ceroni, Chong Ae Kim, Gozde Yesil, Esma Sengenc, Serhat Guler, Mariam Hull, Mered Parnes, Dilek Aktas, Banu Anlar, Yavuz Bayram, Davut Pehlivan, Jennifer E. Posey, Shahryar Alayi, Seyed Ali Madani Manshadi, Hamad Alzaidan, Mohammad Al-Owain, Lama Alabdi, Ferdous Abdulwahab, Futoshi Sekiguchi, Kohei Hamanaka, Atsushi Fujita, Yuri Uchiyama, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Reem M. Elshafie, Kamran Salayev, Ulviyya Guliyeva, Fowzan S. Alkuraya, Joseph G. Gleeson, Kristin G. Monaghan, Katherine G. Langley, Hui Yang, Mahsa Motavaf, Saeid Safari, Mozhgan Alipour, Kazuhiro Ogata, Andre E. X. Brown, James R. Lupski, Henry Houlden, Naomichi Matsumoto
Summary: This study evaluated the genotype-phenotype correlations in individuals with biallelic SLC18A2 variants. It was found that affected individuals typically showed global developmental delay, hypotonia, movement disorders, and autonomic nervous system involvement. Some patients responded well to dopamine agonists, while others showed milder symptoms and prolonged survival even without treatment.
GENETICS IN MEDICINE
(2023)
Article
Clinical Neurology
Riccardo Ronco, Cecilia Perini, Riccardo Curro, Natalia Dominik, Stefano Facchini, Alice Gennari, Roberto Simone, Skye Stuart, Sara Nagy, Elisa Vegezzi, Ilaria Quartesan, Amar El-Saddig, Timothy Lavin, Arianna Tucci, Agnieszka Szymura, Luiz Eduardo Novis De Farias, Alexander Gary, Megan Delfeld, Priscilla Kandikatla, Nifang Niu, Sanjukta Tawde, Joseph Shaw, James Polke, Mary M. Reilly, Nick W. Wood, Emmanuele Crespan, Christopher Gomez, Jin Yun Helen Chen, Jeremy Dan Schmahmann, David Gosal, Henry Houlden, Soma Das, Andrea Cortese
Summary: This study identified patients with CANVAS who carried both a monoallelic (AAGGG)(n) repeat expansion and a second truncating variant in RFC1. The findings expand the genotype spectrum of RFC1 disease and suggest a loss-of-function mechanism underlying CANVAS.
Article
Clinical Neurology
Sara Nagy, Alaa Khan, Pedro M. Machado, Henry Houlden
Summary: Inclusion body myositis (IBM) is a slowly progressive idiopathic inflammatory myopathy characterized by asymmetric muscle weakness primarily affecting the finger flexors and knee extensors. Limited data exists on the genetic susceptibility of sporadic IBM, despite some genes being associated with hereditary IBM.
JOURNAL OF NEUROLOGY
(2023)
Letter
Clinical Neurology
Anderson Rodrigues Brandao de Paiva, Andre Luiz Santos Pessoa, Paulo Ribeiro Nobrega, Cristiane Araujo Martins Moreno, David S. Lynch, Lucas Mitsuo Taniguti, Joao Paulo Kitajima, Fernando Freua, Bruno Della-Ripa, Paulina Cunha, Isabella Peixoto de Barcelos, Lucia Ines Macedo-Souza, Carlos Augusto Takeuchi, Antonio Milton Silva Garcia, Flavia Nardes, Ramiro Fontao, Sergio Antonio Antoniuk, Monica Troncoso, Norma Specola, Consuelo Durand, Bianca de Aguiar Coelho Silva Madeiro, Maria Juliana Rodovalho Doriqui, Diane Vergara, Henry Houlden, Fernando Kok
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2023)
Article
Rheumatology
Parikshit Sen, R. Naveen, Nazanin Houshmand, Siamak Moghadam Kia, Mrudula Joshi, Sreoshy Saha, Kshitij Jagtap, Vishwesh Agarwal, Arvind Nune, Elena Nikiphorou, Ai Lyn Tan, Samuel Katsuyuki Shinjo, Nelly Ziade, Tsvetelina Velikova, Marcin Milchert, Ioannis Parodis, Abraham Edgar Gracia-Ramos, Lorenzo Cavagna, Masataka Kuwana, Johannes Knitza, Ashima Makol, Aarat Patel, John D. Pauling, Chris Wincup, Bhupen Barman, Erick Adrian Zamora Tehozol, Jorge Rojas Serrano, Ignacio de la Torre, Iris J. Colunga-Pedraza, Javier Merayo-Chalico, Okwara Celestine Chibuzo, Wanruchada Katchamart, Phonpen Akawatcharangura Goo, Russka Shumnalieva, Yi-Ming Chen, Leonardo Santos Hoff, Lina El Kibbi, Hussein Halabi, Binit Vaidya, Syahrul Sazliyana Shaharir, A. T. M. Tanveer Hasan, Dzifa Dey, Carlos Enrique Toro Gutierrez, Carlo Vinicio Caballero-Uribe, James B. Lilleker, Babur Salim, Tamer Gheita, Tulika Chatterjee, Oliver Distler, Miguel A. Saavedra, Jessica Day, Hector Chinoy, Sinan Kardes, Sinan A. Kardes, Laura Andreoli, Daniele Lini, Karen Screiber, Melinda Nagy Vince, Yogesh Preet Singh, Rajiv Ranjan, Avinash Jain, Sapan C. Pandya, Rakesh Kumar Pilania, Aman Sharma, M. Manesh Manoj, Vikas Gupta, Chengappa G. Kavadichanda, Pradeepta Sekhar Patro, Sajal Ajmani, Sanat Phatak, Rudra Prosad Goswami, Abhra Chandra Chowdhury, Ashish Jacob Mathew, Padnamabha Shenoy, Ajay Asranna, Keerthi Talari Bommakanti, Anuj Shukla, Arunkumar R. Pande, Kunal Chandwar, Akanksha Ghodke, Hiya Boro, Zoha Zahid Fazal, Doendue Ueskuedar Cansu, Resit Yildirim, Armen Yuri Gasparyan, Nicoletta Del Papa, Gianluca Sambataro, Atzeni Fabiola, Marcello Govoni, Simone Parisi, Elena Bartoloni Bocci, Gian Domenico Sebastiani, Enrico Fusaro, Marco Sebastiani, Luca Quartuccio, Franco Franceschini, Pier Paolo Sainaghi, Giovanni Orsolini, Rossella De Angelis, Maria Giovanna Danielli, Vincenzo Venerito, Silvia Grignaschi, Alessandro Giollo, Alessia Alluno, Florenzo Ioannone, Marco Fornaro, Lisa S. Traboco, Suryo Anggoro Kusumo Wibowo, Jesus Loarce-Martos, Sergio Prieto-Gonzalez, Raquel Aranega Gonzalez, Akira Yoshida, Ran Nakashima, Shinji Sato, Naoki Kimura, Yuko Kaneko, Takahisa Gono, Stylianos Tomaras, Fabian Nikolai Proft, Marie-Therese Holzer, Margarita Aleksandrovna Gromova, Or Aharonov, Zoltan Griger, Ihsane Hmamouchi, Imane El Bouchti, Zineb Baba, Margherita Giannini, Francois Maurier, Julien Campagne, Alain Meyer, Daman Langguth, Vidya Limaye, Merrilee Needham, Nilesh Srivastav, Marie Hudson, Oceane Landon-Cardinal, Wilmer Gerardo Rojas Zuleta, Alvaro Arbelaez, Javier Cajas, Jose Antonio Pereira Silva, Joao Eurico Fonseca, Olena Zimba, Doskaliuk Bohdana, Uyi Ima-Edomwonyi, Ibukunoluwa Dedeke, Emorinken Airenakho, Nwankwo Henry Madu, Abubakar Yerima, Hakeem Olaosebikan, A. Becky, Oruma Devi Koussougbo, Elisa Palalane, Ho So, Manuel Francisco Ugarte-Gil, Lyn Chinchay, Jose Proano Bernaola, Victorio Pimentel, Hanan Mohammed Fathi, Reem Hamdy A. Mohammed, Ghita Harifi, Yurilis Fuentes-Silva, Karoll Cabriza, Jonathan Losanto, Nelly Colaman, Antonio Cachafeiro-Vilar, Generoso Guerra Bautista, Enrique Julio Giraldo Ho, Raul Gonzalez, Lilith Stange Nunez, M. Cristian Vergara, Jossiell Then Baez, Hugo Alonzo, Carlos Benito Santiago Pastelin, Rodrigo Garcia Salinas, Alejandro Quinonez Obiols, Nilmo Chavez, Andrea Bran Ordonez, Sandra Argueta, Gil Alberto Reyes Llerena, Radames Sierra-Zorita, Dina Arrieta, Eduardo Romero Hidalgo, Ricardo Saenz, M. Idania Escalante, Roberto Morales, Wendy Calapaqui, Ivonne Quezada, Gabriela Arredondo, Vikas Agarwal, Rohit Aggarwal, Latika Gupta
Summary: In this study, hesitancy in patients with autoimmune rheumatic diseases (AIRDs) towards COVID-19 vaccines was investigated. The results showed a decrease in hesitancy, but an increase in concerns over the long-term safety of the vaccine. Patients with idiopathic inflammatory myopathies (IIMs) expressed more skepticism towards vaccine science and had more concerns over long-term safety.
Article
Rheumatology
Simon I. Rothwell, Christopher W. Amos, Frederick G. Miller, Lisa E. Rider, Ingrid K. Lundberg, Peter Gregersen, Jiri Vencovsky, Neil McHugh, Vidya Limaye, Albert G. Selva-O'Callaghan, Michael M. Hanna, Pedro M. Machado, Lauren M. Pachman, Ann Reed, Oyvind Molberg, Olivier Benveniste, Pernille Mathiesen, Timothy Radstake, Andrea L. Doria, Jan De Bleecker, Boel De Paepe, Britta E. Maurer, William Ollier, Leonid P. Padyukov, Terrance O'Hanlon, Annette R. Lee, Lucy Wedderburn, Hector A. Chinoy, Janine Lamb
Summary: In this study, genetic analysis of samples from patients with idiopathic inflammatory myopathies (IIMs) identified novel gene variants and localized signals to specific immune cell types. These findings provide new insights into the pathogenesis of IIMs.
ARTHRITIS & RHEUMATOLOGY
(2023)
Letter
Rheumatology
Philippa D. K. Curry, Hector Chinoy, Meghna Jani, Darren Plant, Kimmie L. Hyrich, Ann W. Morgan, A. G. Wilson, John D. Isaacs, Andrew P. Morris, Anne Barton, James Bluett
JOURNAL OF RHEUMATOLOGY
(2023)
Review
Clinical Neurology
Bhaskar Roy, Allison Peck, Teresinha Evangelista, Gerald Pfeffer, Leo Wang, Jordi Diaz-Manera, Manisha Korb, Matthew P. Wicklund, Margherita Milone, Miriam Freimer, Hani Kushlaf, Rocio-Nur Villar-Quiles, Tanya Stojkovic, Merrilee Needham, Johanna Palmio, Thomas P. Lloyd, Benison Keung, Tahseen Mozaffar, Conrad Chris Weihl, Virginia Kimonis
Summary: Valosin-containing protein (VCP)-associated multisystem proteinopathy (MSP) is a rare genetic disorder that affects the autophagy pathway, leading to myopathy, bone diseases, and neurodegeneration. There is currently no consensus-based guideline for the treatment of VCP myopathy. An initiative by Cure VCP Disease Inc. has developed a set of provisional recommendations for the management of VCP myopathy through online surveys, literature review, and expert consultations.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2023)
Article
Cell Biology
Simona Zanotti, Michela Ripolone, Laura Napoli, Daniele Velardo, Sabrina Salani, Patrizia Ciscato, Silvia Priori, Deni Kukavica, Andrea Mazzanti, Luca Diamanti, Elisa Vegezzi, Maurizio Moggio, Stefania Corti, Giacomo Comi, Monica Sciacco
Summary: Phospholamban plays a role in regulating calcium activity and storage in cardiac muscle. This study investigated the effect of PLN gene mutations in skeletal muscle and found histological and functional alterations, suggesting a potential association between PLN mutations and skeletal muscle involvement. Further studies are needed to understand the pathomechanism and potential therapeutic options for PLN-related skeletal muscle disorders.
Review
Clinical Neurology
Conceicao Bettencourt, Nathan Skene, Sara Bandres-Ciga, Emma M. Anderson, Laura F. Winchester, Isabelle Foote, Jeremy A. Schwartzentruber, Juan Botia, Mike Nalls, Andrew M. Singleton, Brian Schilder, Jack J. Humphrey, Sarah E. Marzi, Christina Toomey, Ahmad L. Al Kleifat, Eric Harshfield, Victoria Garfield, Cynthia Sandor, Samuel Keat, Stefano Tamburin, Carlo Sala Frigerio, Ilianna Lourida, Janice M. Ranson, David Llewellyn
Summary: Genetics and omics studies of Alzheimer's disease and other dementia subtypes provide insights into underlying mechanisms, but there are challenges in enhancing genetic studies, identifying reproducible omics signatures, and utilizing high-dimensional omics data for improved biomarkers. Artificial intelligence and machine learning approaches offer potential solutions, but coordinated multidisciplinary research and diverse phenotyped cohorts are also needed.
ALZHEIMERS & DEMENTIA
(2023)
Review
Rheumatology
Thomas Khoo, James B. Lilleker, Bernard Yu-Hor Thong, Valerie Leclair, Janine A. Lamb, Hector Chinoy
Summary: Idiopathic inflammatory myopathies (IIMs) are a group of systemic autoimmune diseases that affect skeletal muscles and other body parts. The incidence and prevalence of IIM are influenced by various factors, including age, gender, and geographical location. Although genetic and environmental factors have been identified, more research is needed to understand the differences in different ethnic groups.
NATURE REVIEWS RHEUMATOLOGY
(2023)
Article
Rheumatology
Ryan Malcolm Hum, James B. Lilleker, Janine A. Lamb, Alexander G. S. Oldroyd, Guochun Wang, Lucy R. Wedderburn, Louise P. Diederichsen, Jens Schmidt, Maria Giovanna Danieli, Paula Oakley, Zoltan Griger, Thuy Nguyen Thi Phuong, Chanakya Kodishala, Monica Vazquez-Del Mercado, Helena Andersson, Boel De Paepe, Jan L. De Bleecker, Britta Maurer, Liza McCann, Nicolo Pipitone, Neil McHugh, Robert Paul New, William E. Ollier, Niels Steen Krogh, Jiri Vencovsky, Ingrid E. Lundberg, Hector Chinoy
Summary: This study compared the clinical characteristics of adult patients with anti-synthetase syndrome (ASyS) and dermatomyositis (DM), including cutaneous and extramuscular manifestations and malignancy. The results showed that DM-type rashes were frequent in ASyS patients, but there were distinct clinical differences between the two groups. Skin involvement in ASyS did not require increased surveillance for malignancy.
Letter
Rheumatology
Ali S. F. Sheikh, James B. Lilleker, Hector Chinoy
RHEUMATOLOGY ADVANCES IN PRACTICE
(2023)
Article
Medicine, Research & Experimental
Alexandra R. Brown, Byron J. Gajewski, Dinesh Pal Mudaranthakam, Mamatha Pasnoor, Mazen M. Dimachkie, Omar Jawdat, Laura Herbelin, Matthew S. Mayo, Richard J. Barohn
Summary: This paper describes the application of response adaptive randomization in a comparative effectiveness study. By using Bayesian methods for analysis, the paper provides literature on conducting Bayesian response adaptive randomized trials.
CONTEMPORARY CLINICAL TRIALS COMMUNICATIONS
(2023)
Article
Geriatrics & Gerontology
Sarah N. Kraeutner, Cristina Rubino, Jennifer K. Ferris, Shie Rinat, Lauren Penko, Larissa Chiu, Brian Greeley, Christina B. Jones, Beverley C. Larssen, Lara A. Boyd
Summary: This study examined the age-related changes in brain function and baseline brain structure that support motor skill acquisition. The findings showed that older adults experienced decreases in functional connectivity during motor skill acquisition, while younger adults experienced increases. Additionally, regardless of age group, lower baseline microstructure in a frontoparietal tract was associated with slower motor skill acquisition.
NEUROBIOLOGY OF AGING
(2024)
Article
Geriatrics & Gerontology
Karen Nuytemans, Farid Rajabli, Melissa Jean-Francois, Jiji Thulaseedhara Kurup, Larry D. Adams, Takiyah D. Starks, Patrice L. Whitehead, Brian W. Kunkle, Allison Caban-Holt, Jonathan L. Haines, Michael L. Cuccaro, Jeffery M. Vance, Goldie S. Byrd, Gary W. Beecham, Christiane Reitz, Margaret A. Pericak-Vance
Summary: This study conducted genetic research on African American AD families and identified a significant linkage signal associated with AD, highlighting the importance of diverse population-level genetic data in understanding the genetic determinants of AD.
NEUROBIOLOGY OF AGING
(2024)
Article
Geriatrics & Gerontology
Kazuya Suwabe, Ryuta Kuwamizu, Kazuki Hyodo, Toru Yoshikawa, Takeshi Otsuki, Asako Zempo-Miyaki, Michael A. Yassa, Hideaki Soya
Summary: Physical exercise has a positive impact on hippocampal memory decline with aging. Recent studies have shown that even light exercise can improve memory and this improvement is mediated by the ascending arousal system. This study aimed to investigate the effects of light-intensity exercise on hippocampal memory function in healthy older adults and found that pupil dilation during exercise played a role in the memory improvement.
NEUROBIOLOGY OF AGING
(2024)
Article
Geriatrics & Gerontology
Ajay Sood, Ana Werneck Capuano, Robert Smith Wilson, Lisa Laverne Barnes, Alifiya Kapasi, David Alan Bennett, Zoe Arvanitakis
Summary: The objective of this study was to explore the impact of metformin on cognition and brain pathology. The results showed that metformin users had slower decline in global cognition, episodic memory, and semantic memory compared to non-users. However, the relationship between metformin use and certain brain pathology remains uncertain.
NEUROBIOLOGY OF AGING
(2024)
Article
Geriatrics & Gerontology
Brian N. Lee, Junwen Wang, Molly A. Hall, Dokyoon Kim, Shana D. Stites, Li Shen
Summary: Alzheimer's disease (AD) is a neurodegenerative disorder characterized by memory and functional impairments. This study analyzed participants from the Alzheimer's Disease Neuroimaging Initiative and found differential associations between cerebral spinal fluid (CSF)/neuroimaging biomarkers and cognitive/functional outcomes, as well as variations between sexes. These findings suggest that sex differences may play a role in the development of AD.
NEUROBIOLOGY OF AGING
(2024)
Article
Geriatrics & Gerontology
Madeline R. Hale, Rebecca Langhough, Lianlian Du, Bruce P. Hermann, Carol A. Van Hulle, Margherita Carboni, Gwendlyn Kollmorgenj, Kristin E. Basche, Davide Bruno, Leah Sanson-Miles, Erin M. Jonaitis, Nathaniel A. Chin, Ozioma C. Okonkwo, Barbara B. Bendlin, Cynthia M. Carlsson, Henrik Zetterberg, Kaj Blennow, Tobey J. Betthauser, Sterling C. Johnson, Kimberly D. Mueller
Summary: This study demonstrates a relationship between cerebrospinal fluid biomarkers and the ability to recall proper names in the preclinical phase of Alzheimer's disease.
NEUROBIOLOGY OF AGING
(2024)
Article
Geriatrics & Gerontology
Thomas T. Austin, Christian L. Thomas, Ben Warren
Summary: This study investigated the effects of age on the robustness and resilience of auditory system using the desert locust. The researchers found that gene expression changes were mainly influenced by age rather than noise exposure. Both young and aged locusts were able to recover their auditory nerve function within 48 hours of noise exposure, but the recovery of transduction current magnitude was impaired in aged locusts. Key genes responsible for robustness to noise exposure in young locusts and potential candidates for compensatory mechanisms in auditory neurons of aged locusts were identified.
NEUROBIOLOGY OF AGING
(2024)