Results 41 to 50 of about 9,601 (224)

Differential Item Functioning on the Patient Health Questionnaire 8 by Disease Subtype, Language, Sex, and Age Among People With Systemic Sclerosis: A Scleroderma Patient‐Centered Intervention Network Cohort Study

Arthritis Care &Research, EarlyView.
Objective Somatic items used in depression assessments can potentially overlap with symptoms related to physical illness, including systemic sclerosis (SSc). No studies have looked at whether somatic depression items may be influenced by diffuse versus limited SSc disease subtypes, which are associated with varying degrees of symptom presentation.
Sophie Hu, Marie‐Eve Carrier, Marie‐Claude Geoffroy, Meira Golberg, Linda Kwakkenbos, Susan J. Bartlett, Catherine Fortuné, Amy Gietzen, Karen Gottesman, Geneviève Guillot, Laura K. Hummers, Amanda Lawrie‐Jones, Vanessa L. Malcarne, Michelle Richard, Maureen Sauvé, Luc Mouthon, Andrea Benedetti, Brett D. Thombs, on behalf of the SPIN Investigators, Claire E. Adams, Marie Hudson, Maureen D. Mayes, James Stempel, Robyn K. Wojeck, Christian Agard, Laurent Alric, Marc André, Floryan Beaslay, Elana J. Bernstein, Sabine Berthier, Lyne Bissonnette, Sophie Blaise, Eva Bories, Alessandra Bruns, Carlotta Cacciatore, Patricia Carreira, Marion Casadevall, Benjamin Chaigne, Lorinda Chung, Benjamin Crichi, Thylbert Deltombe, Christopher P. Denton, Tannvir Desroche, Robyn Domsic, James V. Dunne, Bertrand Dunogue, Regina Fare, Dominique Farge‐Bancel, Paul R. Fortin, Tracy Frech, Loraine Gauzère, Anne Gerber, Jessica K. Gordon, Brigitte Granel‐Rey, Aurélien Guffroy, Geneviève Gyger, Eric Hachulla, Daphna Harel, Monique Hinchcliff, Sabrina Hoa, Michael Hugues, Alena Ikic, Sindhu R. Johnson, Nader Khalidi, Kimberly S. Lakin, Marc Lambert, Maggie Larche, David Launay, Yvonne C. Lee, Paul Legendre, Catarina Leite, Hélène Maillard, Nancy Maltez, Joanne Manning, Isabelle Marie, Maria Martin Lopez, Thierry Martin, Ariel Masetto, Arsène Mekinian, Sheila Melchor Díaz, Morgane Mourguet, Christelle Nguyen, Karen Nielsen, Mandana Nikpour, Louis Olagne, Vincent Poindron, Janet Pope, Susanna Proudman, Grégory Pugnet, Loïc Raffray, François Rannou, Alexis Régent, Frederic Renou, Sébastien Rivière, David Robinson, Esther Rodríguez Almazar, Tatiana Sofia Rodríguez‐Reyna, Sophie Roux, Perrine Smets, Vincent Sobanski, Robert F. Spiera, Virginia Steen, Evelyn Sutton, Carter Thorne, Damien Vagner, John Varga, Pearce Wilcox, Vanessa Cook, Cassidy Dal Santo, Monica D'Onofrio, Elsa‐Lynn Nassar   +110 more
wiley   +1 more source

The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis. [PDF]

, 2015
A previous study showed that, in carriers of the apolipoprotein E (APOE) genotype ε3/ε3 or ε3/ε4, the presence of a very long (VL) polyT repeat allele in "translocase of outer mitochondrial membrane 40" (TOMM40) was less frequent in patients with ...
Gang, Q., Moggio, M, Zanoteli, E, Brady, S, Mantegazza, R, Fox, Z, Healy, E, Bettencourt, C, Parton, M, Shieh, P.B., Barohn, RJ, Holton, J.L., Parton, M., De Bleecker, J, Dimachkie, MM, Zanoteli, E., Ripolone, M., Barohn, R.J., De Paepe, B., Machado, P.M., Hilton-Jones, D., Mantegazza, R., Bettencourt, C., Healy, E., Zanotti, S., De Bleecker, J., Dimachkie, M.M., Mastaglia, F., Fox, Z., Violano, R., Machado, PM, Zanotti, S, Muscle Study Group and the International IBM Genetics Consortium(#), ,, Needham, M., Gang, Q, Mora, M, Shieh, PB, Houlden, H, Hanna, M.G., Violano, R, Mora, M., Moggio, M., Hilton-Jones, D, Hanna, MG, Ripolone, M, Houlden, H., Holton, JL, De Paepe, B, Shaibani, A, Brady, S., Shaibani, A.   +50 more
core  

Asymptomatic hyper-creatine-kinase-emia as sole manifestation of inclusion body myositis

Neurology International, 2013
Sporadic inclusion body myositis (sIBM) usually manifests with painless weakness of the hand, finger and hip flexors. Absence of symptoms or signs, but mild hyper-CK-emia as the sole manifestation of IBM, has not been reported. We report the case of a 73-
Josef Finsterer, Claudia Stöllberger, Gabor G. Kovacs   +2 more
doaj   +1 more source

Mucocutaneous Disease Activity and Damage Accrual in Systemic Lupus Erythematosus: Analyses From the Asia‐Pacific Lupus Collaboration Longitudinal Cohort Study

Arthritis Care &Research, EarlyView.
Objective This research article aims to describe the prevalence, associations, and health‐related quality of life (HRQoL) impact of mucocutaneous features of systemic lupus erythematosus (SLE). Methods Data from the Asia‐Pacific Lupus Collaboration cohort were analyzed (2013–2021).
Amanda M. Saracino, Yanjie Hao, Dylan Hansen, Yi‐Hsing Chen, Alberta Hoi, Vera Golder, Jiacai Cho, Aisha Lateef, Worawit Louthrenoo, Laniyati Hamijoyo, Shue Fen Luo, Yeong‐Jian Jan Wu, Sandra Navarra, Leonid Zamora, Chak Sing Lau, Shirley Chan, Zhanguo Li, Hai‐hong Yao, Sargunan Sockalingam, B. M. D. B. Basnayake, Yasuhiro Katsumata, Masayoshi Harigai, Zhuoli Zhang, Jun Kikuchi, Yuko Kaneko, Tsutomu Takeuchi, Madelynn Chan, Sang‐Cheol Bae, Fiona Goldblatt, Sean O'Neill, Geraldine Hassett, Kristine Ng, Nicola Tugnet, Mark Sapsford, Yih Jia Poh, Michael Tee, Cherica Tee, Naoaki Ohkubo, Yoshiya Tanaka, Rangi Kandane‐Rathnayake, Eric Morand, Shereen Oon, Mandana Nikpour   +42 more
wiley   +1 more source

Inclusion body myositis in an older patient

, 2022
Inclusion body myositis (IBM) is a condition also referred to as sporadic IBM. It is a rare variant of a broader group of diseases described under the banner of inflammatory myositis. In general, myositis/myositides tend to present with a varying cluster
Dherwani, Vevak, Ogundipe, Olayinka A.
core   +1 more source

Unravelling inclusion body myositis using a patient‐derived fibroblast model

Journal of Cachexia, Sarcopenia and Muscle, 2023
Background Inclusion body myositis (IBM) is an inflammatory myopathy clinically characterized by proximal and distal muscle weakness, with inflammatory infiltrates, rimmed vacuoles and mitochondrial changes in muscle histopathology.
Judith Cantó‐Santos, Laura Valls‐Roca, Ester Tobías, Francesc Josep García‐García, Mariona Guitart‐Mampel, Anna Esteve‐Codina, Beatriz Martín‐Mur, Mercedes Casado, Rafael Artuch, Estel Solsona‐Vilarrasa, José Carlos Fernandez‐Checa, Carmen García‐Ruiz, Carles Rentero, Carlos Enrich, Pedro J. Moreno‐Lozano, José César Milisenda, Francesc Cardellach, Josep M. Grau‐Junyent, Glòria Garrabou   +18 more
doaj   +1 more source

Characteristics and Outcomes of Male Participants in a Multicenter Longitudinal Australian Study Cohort

Arthritis Care &Research, EarlyView.
Objective The aim of this study was to determine the differences in demographic, serologic, and clinical characteristics between male and female patients with systemic sclerosis (SSc) in an Australian cohort. Methods This was a retrospective observational study using data from the Australian Scleroderma Cohort Study.
Emily Lin, Dylan Hansen, Laura Ross, Gene‐Siew Ngian, Susanna Proudman, Gabor Major, Maryam Tabesh, Mandana Nikpour, Jennifer Walker, Lauren Host, Nava Ferdowsi, Alannah Quinlivan, Wendy Stevens, Joanne Sahhar, Diane Apostolopoulos   +14 more
wiley   +1 more source

TDP‐43 Aggregation: The Healthy‐Toxic Balance of the Prion‐Like Domain

Advanced Science, EarlyView.
TDP‐43 function relies on a delicate balance between reversible phase‐separated states and irreversible aggregation. Under physiological conditions, TDP‐43 forms dynamic droplets and oligomers that support normal cellular functions. In pathological contexts, this balance shifts toward aberrant aggregation, leading to toxic species.
Luca Zangrando, Emanuele Buratti, Francesca Paron   +2 more
wiley   +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

Amyloid myopathy: a diagnostic challenge

Neurology International, 2009
Amyloid myopathy (AM) is a rare manifestation of primary systemic amyloidosis (AL). Like inflammatory myopathies, it presents with proximal muscle weakness and an increased creatine kinase level.
Heli Tuomaala, Mikko Kärppä, Hannu Tuominen, Anne M. Remes   +3 more
doaj   +1 more source