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
Retractions in Rheumatology: Trends, Causes, and Implications for Research Integrity
Objective We aimed to describe the trends and main reasons for study retraction in rheumatology literature. Methods We reviewed the Retraction Watch database to identify retracted articles in rheumatology. We recorded the main study characteristics, authors’ countries, reasons for retraction, time from publication to retraction, and trends over time ...
Anna Maria Vettori, Michele Iudici
wiley +1 more source
ValuesML: A new multilingual dataset for values detection in news and political manifestos. [PDF]
Scharfbillig M +74 more
europepmc +1 more source
Objective Clinical response to mycophenolic acid (MPA) is highly heterogeneous; thus, therapeutic drug level monitoring (TDM) may help improve treatment efficacy. This systematic review and meta‐analysis examined therapeutic ranges for MPA levels associated with better outcomes and safety in patients with systemic lupus erythematosus (SLE ...
Zahraa Qamhieh +5 more
wiley +1 more source
Language-informed treatment recommendations in psychiatry: bridging the gap in individual predictability. [PDF]
Shui R +5 more
europepmc +1 more source
Objective To support high‐quality, patient‐centered care for systemic lupus erythematosus (SLE), the American College of Rheumatology (ACR) developed evidence‐based measures incorporating clinical and patient‐reported outcome measures (PROMs). Using the Consolidated Framework for Implementation Research (CFIR), we conducted semistructured interviews ...
Catherine Nasrallah +13 more
wiley +1 more source
Research on emotion animation generation based on AIGC tools: Personalized expression and multi-level encoding strategy. [PDF]
Liu Y, Zhao Z, Qi K.
europepmc +1 more source
Trajectories of Physical Function in Canadian Children With Juvenile Idiopathic Arthritis
Objective We describe trajectories of physical function in children newly diagnosed with juvenile idiopathic arthritis (JIA) and identify trajectories with persisting functional impairments and associated baseline characteristics. Methods We included patients enrolled in the Canadian Alliance of Pediatric Rheumatology Investigators (CAPRI) Registry ...
Clare Cunningham +81 more
wiley +1 more source
Social talk in virtual spaces: an observational study of pragmatic communication in children with autism spectrum disorder during avatar-mediated interaction. [PDF]
R AJ, Senthilkumar R.
europepmc +1 more source
Differentiating Fetal Alcohol Spectrum Disorders From Attention-Deficit Hyperactivity Disorder and Reviewing Diagnostic Guidelines. [PDF]
Capes TJ +5 more
europepmc +1 more source

