Results 201 to 210 of about 3,316,591 (299)

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi   +6 more
wiley   +1 more source

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

Neighborhood Socioeconomic Status and Short‐Term Functional Outcomes in Systemic Lupus Erythematosus

open access: yesArthritis Care &Research, EarlyView.
Objective Individuals with systemic lupus erythematosus (SLE) can accumulate functional status (FS) impairment. We evaluated the association between neighborhood socioeconomic disadvantage, as measured by the Area Deprivation Index (ADI), and FS in a national SLE sample.
Baljeet Rai   +7 more
wiley   +1 more source

A Return to Normality: A Descriptive Qualitative Interview Study Exploring the Patient Experience of Gout Flare Resolution

open access: yesArthritis Care &Research, EarlyView.
Objective Although the definition of a gout flare is well established, the state of gout flare resolution has not yet been defined. This study aimed to explore patients’ experiences and perceptions of gout flare resolution. Methods Semistructured interviews were conducted with 24 people with gout, guided by open‐ended questions exploring their ...
Sarah Stewart   +5 more
wiley   +1 more source

Variable density and chemical reaction effects on heat and mass transfer of magnetic second-grade nanofluid flow under slip conditions. [PDF]

open access: yesDiscov Nano
Benaissa M   +8 more
europepmc   +1 more source

Impact of Six‐Month Monitoring Compared to Three‐Month Monitoring of Laboratories During Methotrexate Therapy

open access: yesArthritis Care &Research, EarlyView.
Objective To evaluate whether extending the American College of Rheumatology–recommended monitoring interval for complete blood count and liver function tests in patients receiving methotrexate (MTX) affects timely detection of medication‐related toxicity.
Spencer Simko   +4 more
wiley   +1 more source

Thermal regulation and electrical performance improvement of solar panels using magnetically assisted nanofluid flow. [PDF]

open access: yesSci Rep
Almitani KH   +5 more
europepmc   +1 more source

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