Results 321 to 330 of about 14,641,362 (427)

Unlocking the potential of primary care: addressing systemic challenges in chronic disease prevention. [PDF]

Korean J Fam Med
Lacsa JEM.
europepmc   +1 more source

Combined Systemic Immunotherapy and Intrathecal Dexamethasone in Febrile Infection Related Epilepsy Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Febrile infection related epilepsy syndrome (FIRES) is a rare presentation of refractory status epilepticus with immune dysregulation as a potential pathologic mechanism. Despite promising results from second‐line immunomodulators, approximately 30% remain refractory to treatment.
Kristen S. Fisher, Alexander Ankar, Jon Cokley, Eyal Muscal, James J. Riviello, Yi‐Chen Lai   +5 more
wiley   +1 more source

Novel Phenotypes and Deep Intronic Variant Expand TH‐Associated Dopa‐Responsive Dystonia Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Approximately 20% of dopa‐responsive dystonia (DRD) cases remain genetically unresolved. Using whole‐genome sequencing, we identified two TH variants in a young DRD patient, including a novel deep intronic variant. Minigene assays confirmed that this variant causes aberrant splicing.
Xiaosheng Zheng, Chenxin Ying, Nan Jin, Jinghong Ma, Xinhua Wan, Xunhua Li, Wei Luo   +6 more
wiley   +1 more source

Key Factors Influencing Outpatient Satisfaction in Chronic Disease Care: Insights from the 2023 Korea HSES. [PDF]

Healthcare (Basel)
Cha YJ.
europepmc   +1 more source

Longitudinal Trajectories of Digital Cognitive Biomarkers for Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Cognitive impairment is one of the most common and debilitating symptoms of relapsing–remitting multiple sclerosis (RRMS). Digital cognitive biomarkers require less time and resources and are rapidly gaining popularity in clinical settings.
Yi Chao Foong, Daniel Merlo, Melissa Gresle, Chao Zhu, Katherine Buzzard, Jeannette Lechner‐Scott, Michael Barnett, Chenyu Wang, Bruce V. Taylor, Tomas Kalincik, Trevor Kilpatrick, David Darby, Pamela Dobay, Johan van Beek, Robert Hyde, Steve Simpson‐Yap, Helmut Butzkueven, Anneke van der Walt   +17 more
wiley   +1 more source

Prevalence of Chronic Disease and Cost Effectiveness of a Free Clinic. [PDF]

J Community Health
Dion AE, Roake J, Mayeda K, Elich N, Parro D, Nuckols T, Tseng M, Phelan S.   +7 more
europepmc   +1 more source

Chronic Granulomatous Disease [PDF]

Proceedings of the Royal Society of Medicine, 1970
openaire   +3 more sources

FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier, Giulia F. Del Gobbo, Layla Mackay, Erika Wall, Madeline Couse, Laura M. McDonell, Mireille Cloutier, Matt C. Danzi, Jodi Warman‐Chardon, Pierre R. Bourque, Oksana Suchowersky, Alan Mears, Luke Seldenthuis, Wendy Mears, Laura Larrigan, Alexandre White‐Brown, Gerald Pfeffer, Dennis E. Bulman, David Dyment, Care4Rare Canada Consortium, Kym M. Boycott   +20 more
wiley   +1 more source

Unleashing the Power of Multiomics: Unraveling the Molecular Landscape of Peripheral Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Peripheral neuropathies (PNs) affect over 20 million individuals in the United States, manifesting as a wide range of sensory, motor, and autonomic nerve symptoms. While various conditions such as diabetes, metabolic disorders, trauma, autoimmune disease, and chemotherapy‐induced neurotoxicity have been linked to PN, approximately one‐third of
Julie Choi, Zitian Tang, Wendy Dong, Jenna Ulibarri, Elvisa Mehinovic, Simone Thomas, Ahmet Höke, Sheng Chih Jin   +7 more
wiley   +1 more source

Evaluation of the effectiveness and cost-effectiveness of the chronic disease co-care (CDCC) Pilot Scheme: a study protocol. [PDF]

BMC Prim Care
Mak IL, Liu KSN, Wong ZCT, Xu VYH, Yu EYT, Ha TKH, Wong WCW, Tse ETY, Chan L, Ng APP, Choi EPH, Roland M, Bishai D, Lam CLK, Wan EYF.   +14 more
europepmc   +1 more source