Results 171 to 180 of about 1,408,061 (267)

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

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem   +9 more
wiley   +1 more source

Differential Item Functioning on the Patient Health Questionnaire 8 by Disease Subtype, Language, Sex, and Age Among People With Systemic Sclerosis: A Scleroderma Patient‐Centered Intervention Network Cohort Study

open access: yesArthritis Care &Research, EarlyView.
Objective Somatic items used in depression assessments can potentially overlap with symptoms related to physical illness, including systemic sclerosis (SSc). No studies have looked at whether somatic depression items may be influenced by diffuse versus limited SSc disease subtypes, which are associated with varying degrees of symptom presentation.
Sophie Hu   +110 more
wiley   +1 more source

Addressing Economic Insecurities Can Improve Patient‐Reported Outcomes in Lupus

open access: yesArthritis Care &Research, EarlyView.
Objective Economic insecurities, such as food, housing, transportation, and financial challenges, are modifiable risk factors and influence patient‐reported outcomes (PROs) in systemic lupus erythematosus (SLE). We examined the following: (1) associations between economic insecurities and PROs, and (2) the impact of screening and addressing economic ...
Jay Patel   +8 more
wiley   +1 more source

New Onset of Fibromyalgia After Exposure to a Combat Environment: A Longitudinal Cohort Study

open access: yesArthritis Care &Research, EarlyView.
Objective Traumatic life events are hypothesized to be triggers for the onset of fibromyalgia. Posttraumatic stress disorder (PTSD) is a common comorbidity of fibromyalgia. However, limited prospective data are available on the development of fibromyalgia after exposure to high‐magnitude stress.
Jay B. Higgs   +15 more
wiley   +1 more source

Parenting and social support: Caregiver strain in social context for low-income Black mothers. [PDF]

open access: yesAm J Orthopsychiatry
Maríñez-Lora AM   +4 more
europepmc   +1 more source

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