Results 111 to 120 of about 6,026,001 (259)

A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel KCNA1 variant (A401T) in a 16‐year‐old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy ...
Juan Darío Ortigoza‐Escobar   +7 more
wiley   +1 more source

බාලවයස්කාර දරුවන් පිළිබඳ මාධ්‍ය ආචාර ධර්ම

open access: yes, 2023
This entry includes 4 infographics (in Sinhala).On 29th of August 2023, Ethics Eye published media ethical guidelines on reporting on ...
Ethics Eye
core  

Cracking the Code: Which Ocular Symptoms Predict Dry Eye Signs? Insights From a Large International Sicca Registry

open access: yesArthritis Care &Research, EarlyView.
Objective The study aimed to identify symptom‐based predictors of dry eye disease (DED) signs in the Sjögren's International Collaborative Clinical Alliance (SICCA) cohort. Methods We performed a retrospective analysis examining 16 ocular symptoms (most graded 0–4) and artificial tear (AT) use (graded 0–3) as predictors of DED signs (abnormal ocular ...
Pragnya R. Donthineni   +7 more
wiley   +1 more source

Real‐World Longitudinal Data on the Impact of Hydroxychloroquine Blood Level Monitoring on Lupus Outcomes: Results of a Prospective Longitudinal Cohort Study

open access: yesArthritis Care &Research, EarlyView.
Objective Hydroxychloroquine (HCQ) is a cornerstone therapy in systemic lupus erythematosus (SLE), but the weight‐based dosing does not account for clinical factors that can introduce individual variability in drug metabolism and clearance. We leveraged longitudinal data from a prospective SLE cohort to identify clinical factors that predict ...
Jay J. Patel   +6 more
wiley   +1 more source

Metabolomic insights into vitreous humor with therapy outcome in type 2 diabetic retinopathy

open access: yesBMC Ophthalmology
Background The therapeutic outcome for Type 2 Diabetic Retinopathy (T2DR) following vitrectomy has been unsatisfactory, with no definitive biomarker available to predict treatment response.
Yuxu Hao   +7 more
doaj   +1 more source

The Gut–Heart Axis in Systemic Sclerosis: Evidence From a Large Prospective Early Disease Cohort

open access: yesArthritis Care &Research, EarlyView.
Objective Cardiac involvement significantly impacts prognosis in systemic sclerosis (SSc), highlighting the need for early risk stratification. Gastrointestinal (GI) symptoms are common and often manifest early. Emerging data suggest a link between GI and cardiac manifestations, possibly through shared mechanisms like dysautonomia.
Francesca R. Di Ciommo   +9 more
wiley   +1 more source

කම්පනයකට මුහුණ දී සිටින්නන්ගෙන් ප්‍රකාශයන් ලබා ගැනීමේදී සැලකිලිමත් විය යුතු කරුණු

open access: yes, 2023
This entry includes 5 infographics (in Sinhala).On August 31, 2023, Ethics Eye published media ethics guidelines for obtaining statements from affected ...
Ethics Eye
core  

Determinants of Body Mass Index in Early Systemic Sclerosis: Implications for Nutritional Risk Stratification

open access: yesArthritis Care &Research, EarlyView.
Objective Gastrointestinal (GI) involvement can lead to malnutrition in patients with systemic sclerosis (SSc). Body mass index (BMI) remains the most widely used marker to screen nutritional status. We aimed to identify predictors of lower BMI in patients with SSc. Methods Patients with SSc from a prospective US cohort meeting 2013 American College of
Ali Y. Ayla   +8 more
wiley   +1 more source

Development of a Disease Activity Index for the Assessment of VEXAS Syndrome (VEXAS‐DAI)

open access: yesArthritis Care &Research, EarlyView.
Objective Vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic syndrome (VEXAS) syndrome is characterized by a complex spectrum of inflammatory and hematologic manifestations. Clinical research to identify effective therapies is urgently needed but is hindered by the lack of validated outcome measures.
Kevin Byram   +25 more
wiley   +1 more source

Mapping the Social Network Structure and Composition of Black Individuals With Rheumatic and Musculoskeletal Conditions

open access: yesArthritis Care &Research, EarlyView.
Objective Our objective was to describe the social networks of Black individuals with rheumatic and musculoskeletal conditions and understand the clustering of health‐related behaviors to inform future community‐based, peer‐led interventions. Methods We used an adapted Personal Network Survey for Clinical Research (PERSNET) to map the personal social ...
Taussia Boadi   +27 more
wiley   +1 more source

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