Results 71 to 80 of about 37,717 (247)

Elevated α-defensin levels in plasma and bronchoalveolar lavage fluid from patients with myositis-associated interstitial lung disease

BMC Pulmonary Medicine, 2018
Background Interstitial lung disease (ILD) is a prognostic indicator of poor outcome in myositis. Although the pathogenesis of myositis-associated ILD is not well understood, neutrophils are thought to play a pivotal role.
Noriho Sakamoto, Hiroshi Ishimoto, Tomoyuki Kakugawa, Minoru Satoh, Tomoko Hasegawa, Shin Tanaka, Atsuko Hara, Shota Nakashima, Hirokazu Yura, Takuto Miyamura, Hanako Koyama, Towako Morita, Seiko Nakamichi, Yasushi Obase, Yuji Ishimatsu, Hiroshi Mukae   +15 more
doaj   +1 more source

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao, Andrew P. Fennell, Tanavi Sharma, Katrina M. Bell, Monique Dunstan, Sebastian Lunke, Meagan J. McGrath, Catriona McLean, Undiagnosed Diseases Network (UDN‐Aus), Alison Yeung, Anna Hackett, Anne Baxter, Ansley Morrish, Ashil Davawala, Azure Hermes, Ben Kamien, Ben Lundie, Carolyn Ellaway, Carolyn Shalhoub, Cas Simons, Cassandra Gray, Cathryn Poulton, Chloe Cunningham, Chris Barnett, Chris Richmond, Christopher Richards, Daniel MacArthur, Daniel Pavlic, Daniella Hock, Daniz Kooshavar, David Amor, David Mowat, Edward Formaini, Elaine Zhang, Ella Wilkins, Ella Zurita, Ellenore Martin, Elly Lynch, Emma Krzesinski, Emma Palmer, Esther Pierini, Evanthia O. Madelli, Francisco Santos Gonzalez, Gareth Baynam, Gunjan Garg, Hamish Scott, Hannah Thomson, Himanshu Goel, Ilias Goranitis, Ira Deveson, Isabella Pfundt, Jacqui Russell, Janine Smith, Jason Pinner, Julia Broadbent, Julie McGaughran, Karin Kassahn, Katherine Lewis, Kaustuv Bhattacharya, Kirsten Boggs, Kirsty West, Kristi Jones, Laura Wedd, Lauren Dreyer, Leah Frajman, Leanne Baxter, Lilian Downie, Lily Loughman, Lisa Bristowe, Lisa Ewans, Louise Cilento, Lucy Kevin, Lyndal Douglas, Madeleine Harris, Maie Walsh, Manisha Chauhan, Margit Shah, Martin Delatycki, Mathew Wallis, Matthew Hunter, Megan Ball, Megan Higgins, Meutia Kumaheri, Michael Fahey, Mike Field, Mohammadreza Hajjari, Natalie Stewart, Natalie Tan, Natasha Brown, Nicole Van Bergen, Noelia Nunez‐Martinez, Oliver Heath, Rachel Austin, Rani Sachdev, Rebecca Macintosh, Rebecca Vink, Rocio Rius, Ruvi Samarasekera, Ryan Pysar, Sandra Cooper, Sarah Casauria, Sarah Collinson, Sarah Jelenich, Sarah Josephi‐Taylor, Sarah Sandaradura, Sean Massey, Shannon Leblanc, Shuxiang Goh, Simon Bodek, Simon Sadedin, Simran Kaur, Smitha Kumble, Sue White, Suzanne Sallevelt, Tegan Stait, Tiffany Boughtwood, Tim Sikora, Timo Lassmann, Tiong Tan, Tracy Dudding, David R. Thorburn, David A. Stroud, John Christodoulou   +122 more
wiley   +1 more source

Increased Cardiac Troponin T May Be a Marker of Worsening Skeletal Myopathy in Inclusion Body Myositis: A Case Report

Cardiology Discovery
. Previous studies have reported elevated cardiac troponin T (cTnT) in patients with inclusion body myositis due to skeletal myopathy. Although the trends of cTnT have been reported in some cases, the onset of elevation has barely been reported.
Zhiqing Fu, Xiujin Zhang, Hanjia Gao
doaj   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

High prevalence of myositis in a southeastern United States pediatric systemic lupus erythematosus cohort

Pediatric Rheumatology Online Journal, 2011
Inflammatory myositis is reported in 4-16% of adult systemic lupus erythematosus (SLE) patients. The aim of this study was to determine the prevalence of myositis in a cohort of pediatric SLE patients in the southeastern United States.
Cron Randy Q, Beukelman Timothy, Record Jessica L   +2 more
doaj   +1 more source

Distribution of Big Tau Isoforms in the Human Central and Peripheral Nervous System

Annals of Neurology, EarlyView.
Objective Tau is widely studied in neurodegeneration, yet most work has focused on canonical brain tau isoforms. A longer isoform, “big tau,” produced by inclusion of exon 4a, is expressed in the peripheral nervous system (PNS) and central nervous system (CNS) regions.
Rama Krishna Koppisetti, Nicolas R. Barthélemy, Kanta Horie, Cindy V. Ly, Kaleigh F. Roberts, Srinivas Koutarapu, Richard J. Perrin, Erin E. Franklin, Chiara Pedicone, Joshua Orrick, Justin Melendez, Timothy M. Miller, Chihiro Sato, Nupur Ghoshal, Alison M. Goate, Celeste M. Karch, Randall J. Bateman, Soumya Mukherjee   +17 more
wiley   +1 more source

The promise, perceptions, and pitfalls of immunoassays for autoantibody testing in myositis

Arthritis Research & Therapy, 2020
Background A myositis-specific autoantibody can now be identified in the majority of patients with myositis. They identify homogeneous patient subgroups and are key tools in developing a personalized approach to disease management.
Sarah L. Tansley, Julia Snowball, John D. Pauling, Anya Lissina, Masataka Kuwana, Lisa G. Rider, Johan Rönnelid, Neil J. McHugh, on behalf of the International Myositis Assessment and Clinical Studies (IMACS) Group Myositis Autoantibody Scientific Interest Group   +8 more
doaj   +1 more source

Increased severity and relapse rate in adult anti-nuclear matrix protein 2 antibody positive myositis patients with distal limb weakness: a retrospective study in China

Frontiers in Medicine
PurposeThis study aimed to examine the clinical features and prognosis of patients with distal limb weakness in anti-nuclear matrix protein 2 antibody (anti-NXP2) positive myositis.Patients and methodsThis retrospective study included the medical records
Lin Liang, Shanshan Li, Qilu Wei, Shuo Chen, Ruilong Gao, Chao Sun, Jianyu Zhu, Jianghui Duan, Ling Zhang   +8 more
doaj   +1 more source

Integrating One Health to Mitigate the Emergence and Spread of Antimicrobial Resistance in Livestock and Aquaculture

Animal Research and One Health, EarlyView.
Antimicrobial resistance (AMR) is an escalating global threat driven by antimicrobial use in aquaculture and livestock. Resistant pathogens and genes can spread across humans, animals, and the environment through interconnected ecosystems. Using a One Health approach, this review emphasizes antimicrobial stewardship, regulatory strengthening, enhanced ...
Mir Mohammad Ali, Delower Hossain, Ridwan Olamilekan Adesola, Anum Hanif, Shamsaldeen Ibrahim Saeed, Muhammad Abdul Mannan, Anoar Jamai Masroure, Kazi Estieque Alam, Md Kamal Hossain, Sabiha Zarin Tasnim Bristi, Md Jisan Ahmed   +10 more
wiley   +1 more source

Myositis ossificans in the diabetic foot: a review of the literature with an illustrative case series

JRSM Open, 2019
Objective Myositis ossificans is a rare non-neoplastic form of heterotopic ossification most commonly described after trauma or surgery, in the diabetic foot. Design We provide a review of the literature including three illustrative cases.
Vivek Sharma, Dhiraj Sharma, Heather Dinar, Ketan K Dhatariya   +3 more
doaj   +1 more source