Results 171 to 180 of about 128,152 (239)

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann   +17 more
wiley   +1 more source

Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang   +10 more
wiley   +1 more source

Evidence of Iron Accumulation in Cerebral Adrenoleukodystrophy: A Potential Novel Disease Mechanism

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT In this first application of Quantitative Susceptibility Mapping Source Separation to cerebral adrenoleukodystrophy, we uncovered alterations in iron and myelin within lesions and normal appearing white matter. As validation, we demonstrate abnormal iron accumulation in those same compartments within primary brain tissue.
Christina L. Nemeth   +8 more
wiley   +1 more source

Monocyte LOXHD1 and RHOB Expression Predictive of Progressive Systemic Sclerosis–Associated Interstitial Lung Disease

open access: yesArthritis Care &Research, EarlyView.
Objective A leading cause of death among patients with scleroderma (SSc), interstitial lung disease (ILD) remains challenging to prognosticate. The discovery of biomarkers that accurately determine which patients would benefit from close monitoring and aggressive therapy would be an essential clinical tool.
Cristina M. Padilla   +13 more
wiley   +1 more source

Clinical Practice Guideline for Evaluation and Management of Peripheral Nervous System Manifestations in Sjögren's Disease

open access: yesArthritis Care &Research, EarlyView.
Objective Sjögren's disease is an autoimmune disorder that can impact multiple organ systems, including the peripheral nervous system (PNS). PNS manifestations, which can exist concurrently, include mononeuropathies, polyneuropathies, and autonomic nervous system neuropathies.
Anahita Deboo   +88 more
wiley   +1 more source

Temporal Trends and Short‐ and Long‐Term Mortality of People With Acute Myocardial Infarction and Rheumatoid Arthritis: A Nationwide Cohort Study

open access: yesArthritis Care &Research, EarlyView.
Objective We investigated whether a diagnosis of rheumatoid arthritis (RA) affects the quality of inpatient acute myocardial infarction (AMI) care and long‐term mortality post‐AMI. Methods We analyzed data from 784,091 adults, 6,047 with a diagnosis of RA, from England and Wales hospitalized with AMI between 2005 and 2019 from the Myocardial Ischaemia ...
Megan Butler   +8 more
wiley   +1 more source

Cognitive Behavioral Therapy for Youth with Childhood‐Onset Lupus: A Randomized Clinical Trial

open access: yesArthritis Care &Research, Accepted Article.
Objective Our objective was to determine the feasibility and acceptability of the Treatment and Education Approach for Childhood‐onset Lupus (TEACH), a six‐session cognitive behavioral intervention addressing depressive, fatigue, and pain symptoms, delivered remotely to individual youth with lupus by a trained interventionist.
Natoshia R. Cunningham   +29 more
wiley   +1 more source

MYCOPHENOLATE MOFETIL TREATMENT REDUCES THE RISK OF TREATMENT ESCALATION DUE TO VASCULAR COMPLICATIONS IN LIMITED CUTANEOUS SYSTEMIC SCLEROSIS: EMULATION OF A TARGET TRIAL FROM ITALIAN RHEUMATOLOGY SOCIETY SPRING REGISTRY

open access: yesArthritis Care &Research, Accepted Article.
Objective Mycophenolate Mofetil (MMF) use in limited cutaneous systemic sclerosis (lcSSc) is relatively uncommon due to the lower fibrotic burden and the predominance of the vascular complications. In vitro observations and clinical data from transplanted patients suggest a protective effect of MMF on endothelial function.
Enrico De Lorenzis   +77 more
wiley   +1 more source

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