Heterozygous variants in AP4S1 are not associated with a neurological phenotype
Abstract Biallelic loss‐of‐function variants in AP4S1 cause childhood‐onset hereditary spastic paraplegia. A recent report suggested that heterozygous AP4S1 variants lead to a syndrome of lower limb spasticity and dysregulation of sphincter function. We critically evaluate this claim against clinical observations in 28 heterozygous carriers of the same
Vicente Quiroz+9 more
wiley +1 more source
Addressing the criticisms and critiques of positive psychology: recommendations for improving the science and practice of the field. [PDF]
Gaffaney J, Donaldson SI.
europepmc +1 more source
This study aimed to assess gray matter (GM) atrophy, the contribution of white matter (WM) lesions, and consequent structural disconnectivity in minority patients with multiple sclerosis (PwMS). Minority PwMS were found to have greater lesion burden and GM atrophy. Differences in GM atrophy were partially mediated by WM pathology. Abstract Objective To
Ahmed Bayoumi+8 more
wiley +1 more source
Indigenous Relational Practices as a Strategy to Transform Acute Hospital Settings: A Kaupapa Māori Grounded Theory Study. [PDF]
Pene BJ, Gott M, Clark TC, Slark J.
europepmc +1 more source
Novel pathogenic mtDNA variants in Chinese children with neurological mitochondrial disorders
Abstract Objective Pathogenic variations in the mitochondrial genome are tightly linked to neurological mitochondrial disorders in children. However, the mutation spectrum of mitochondrial DNA (mtDNA) in the Chinese population remains incomplete. Therefore, the primary objective of our study was to comprehensively characterize pathogenic mtDNA variants
Zhimei Liu+15 more
wiley +1 more source
Cultural perspective on religion, spirituality and mental health. [PDF]
Cucchi A, Qoronfleh MW.
europepmc +1 more source
Comparison of offspring outcomes in women with and without epilepsy
Abstract Objective The potential impact of antiseizure medications (ASMs) on abortion rate and bone metabolism in the offspring of pregnant women with epilepsy (WWE) is currently unknown. This research aimed to assess the potential risk by conducting a comparative analysis of bone metabolism‐related indicators in the offspring of WWE.
Huali Luo+5 more
wiley +1 more source
A Scoping Review of the Experiences of Internationally Educated Nurses Working With Older Adults in High-Income Countries. [PDF]
Kokorelias KM+3 more
europepmc +1 more source
Capturing what matters: Patient‐reported LGI1‐ANTibody encephalitis outcome RatiNg scale (LANTERN)
Abstract Background LGI1‐antibody encephalitis (LGI1‐Ab‐E) is a common form of autoimmune encephalitis where most patients demonstrate ‘good’ clinician‐rated outcomes. However, more targeted questionnaires reveal numerous debilitating symptoms for many years.
Mark J Kelly+9 more
wiley +1 more source