Results 191 to 200 of about 5,439,813 (253)

Generalized Dystonia With Cervical Predominance in a Patient With a De Novo TCF20 Variant

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT TCF20 has been implicated in developmental delay and intellectual disability, with dystonia reported less frequently. We describe a woman in her early twenties with childhood‐onset learning difficulties, progressive dysarthria, tremor, and generalized dystonia with marked cervical predominance, associated with a de novo TCF20 frameshift ...
Melisa Kilic, Petr Dusek, Ibrahim Kamaci, Bahar Gulmez, Gul Yalcin Cakmakli, Ersin Tan, Sibel Ugur Iseri, Zuhal Yapici   +7 more
wiley   +1 more source

Ofatumumab Therapy and Long‐Term Seizure Outcomes of Patients With Relapsing Anti‐NMDA Receptor Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There is a lack of studies on seizure outcomes associated with ofatumumab therapy in patients for relapsing anti‐N‐methyl‐D‐aspartate (NMDA) receptor encephalitis. We aimed to evaluate long‐term seizure outcomes of ofatumumab therapy for relapsing anti‐NMDA receptor encephalitis.
Jian Wang, Mengjiao Li, Ping Kong
wiley   +1 more source

Myostatin/Smad3 in Spinal Muscular Atrophy: Biomarkers of Disease Severity and Treatment Response

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Given the role of Myostatin (MSTN) in muscle homeostasis and its modulation by current spinal muscular atrophy (SMA) therapies, we investigated serum MSTN and, for the first time, its downstream effector Smad3 as candidate non‐invasive biomarkers in SMA patients undergoing disease‐modifying therapies (DMTs).
Giorgia Riolo, Claudia Dosi, Stefano Parravicini, Riccardo Zanin, Marta Cheli, Eleonora Giacopuzzi Grigoli, Amalia Canciello, Francesca Andreetta, Riccardo Masson, Silvia Bonanno, Stefania Marcuzzo, Lorenzo Maggi   +11 more
wiley   +1 more source

Parkinson Disease Subtype Stability and Eventual Convergence

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Previous research identified distinct Parkinson disease (PD) clinical subtypes of “Motor Only,” “Psychiatric & Motor,” and “Cognitive & Motor” based on comprehensive, multidomain classification. Whether these subtypes reflect distinct trajectories or progressive disease stages remains unknown.
Laura M. Rosok, Christina N. Lessov‐Schlaggar, Abdulmunaim M. Eid, Erin R. Foster, Baijayanta Maiti, Hailee Domash, Helen Hwang, Richard J. Perrin, Paul T. Kotzbauer, Joel S. Perlmutter, Meghan C. Campbell   +10 more
wiley   +1 more source

Acute Endocrine Alterations After Traumatic Brain Injury and 6‐Month Functional Outcome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Acute multi‐axis endocrine alterations after traumatic brain injury (TBI) remain incompletely characterized. This study aimed to examine their temporal patterns and explore their associations with 6‐month functional outcome and early inflammatory markers.
Biao Xu, Peng Guo, Rui Pan, Zhenghao Wang, Jingchao Zhou, Pengcheng Zhang, Xingzhe Zhang, Qinghua Zhang, Haibin Ma, Zhanfeng Niu   +9 more
wiley   +1 more source

Molecular Diagnosis in Children With Febrile Seizures: Beyond the Conventional Clinical Classification

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Febrile seizures (FS) are currently classified as simple or complex primarily to describe seizure characteristics, with limited ability to identify the underlying etiology. We evaluated whether molecular diagnosis could complement conventional classification and improve the diagnosis and management of FS.
Jia Wang, Mengna Zhang, Yangyang Wang, Xiuyu Shi, Baoguang Li, Xiuxia Wang, Dan Sun, Sanqing Xu, Jianbo Zhao, Lijun Du, Qiming Pang, Xiaoming Liu, Chunhui Tang, Xiaohua Li, Jiuwei Li, Yanli Ma, Jianxiang Liao, Gulixian Abudureyimu, Jianmin Liang, Yuan Wang, De Wu, Jian Wu, Liping Zou   +22 more
wiley   +1 more source

Understanding the Burden of Orofacial Involvement and Patient Treatment Preferences in Systemic Sclerosis: Results From a Large International Survey

Arthritis Care &Research, EarlyView.
Objective Orofacial manifestations are significantly impactful in patients with systemic sclerosis (SSc) yet remain understudied, with no dedicated clinical guidelines to inform their management. Methods An international online survey comprised38 questions addressing orofacial manifestations of SSc, including patients’ confidence in their treating ...
Eleni Deligianni, Lee Shapiro, Deana Gibbs, Zsuzsanna H. McMahan, Michael Hughes   +4 more
wiley   +1 more source

Longitudinal Changes in Adiposity After a Youth Sport‐Related Knee Injury: Informing Posttraumatic Osteoarthritis Prevention

Arthritis Care &Research, EarlyView.
Objective Youth who experience a sport‐related knee injury have elevated odds of becoming overweight or developing obesity in 3 to 10 years, compounding their risk for posttraumatic osteoarthritis (PTOA). To inform prevention strategies, this study compared patterns of adiposity change between youth with a sport‐related knee injury and uninjured youth ...
Justin M. Losciale, Nuria E. J. Jansen, Christina Y. Le, Leo Lu, Hui Xie, Marienke van Middelkoop, Jackie L. Whittaker   +6 more
wiley   +1 more source

Individuals With Multijoint Osteoarthritis Demonstrate Larger Longitudinal Declines in Frailty: Data From the Canadian Longitudinal Study on Aging

Arthritis Care &Research, EarlyView.
Objective The aim of this study was to test the hypothesis that multijoint osteoarthritis would modify the relation between time and frailty progression, in which more affected joints would lead to larger declines over six years compared to those without osteoarthritis using data from the Canadian Longitudinal Study on Aging.
Carson Halliwell, Rebecca Moyer, Myles W. O'Brien   +2 more
wiley   +1 more source

Beyond Visual Scoring: Computational Computed Tomography Analysis for High‐Resolution Computed Tomography–Based Quantification of Interstitial Lung Disease in Inflammatory Rheumatic Disease

Arthritis Care &Research, EarlyView.
Interstitial lung disease (ILD) is a significant cause of morbidity and mortality in patients with inflammatory rheumatic disorders (IRDs). High‐resolution computed tomography (HRCT) is widely considered the gold standard for the noninvasive assessment of ILD; however, its interpretation is constrained by substantial interobserver variability and the ...
Alexander Pfeil, Tobias Hoffmann, Ulf Teichgräber, Diane Renz, Denise Beckmann, Gunter Wolf, Nicole Schadewaldt, Bianca Lassen‐Schmidt   +7 more
wiley   +1 more source