Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone +8 more
wiley +1 more source
Perceptual biases and positive schizotypy: The role of perceptual load [PDF]
The study investigated the effects of perceptual load on the bias to report seeing non-existing events—a bias associated with positive symptoms of schizophrenia and positive schizotypal symptoms.
Tsakanikos, Elias
core +1 more source
Perception of burden by caregivers of patients with schizophrenia in relation to symptom profile
Background: Schizophrenia begins early in life causing significant long-lasting impairments. The caregivers face physical, psychological, and economic difficulties in taking care of them.
Bharathi Gunjahalli, P M Chougule
doaj +1 more source
[18F]Fluorodeprenyl‐D2 PET as a Tool to Monitor Disease Activity in GAD65‐Ab Autoimmune Encephalitis
ABSTRACT Objective To evaluate [18F]fluorodeprenyl‐D2 ([18F]F‐DED) positron‐emission tomography (PET) imaging as a biomarker of disease activity in autoimmune encephalitis (AIE) associated with glutamic acid decarboxylase 65 (GAD65) antibodies. Methods [18F]F‐DED PET was performed in 25 GAD65‐AIE patients and 8 controls using dynamic (0–60 min) and ...
Julia S. Dorneich +19 more
wiley +1 more source
Neighbourhood environment and positive mental health in older people: The Hertfordshire Cohort Study [PDF]
Little is known about the potential effects of neighbourhood environment on positive mental health in older people. We examined cross-sectional associations between the index of multiple deprivation score of the census area of residence, perceptions of ...
Sayer, AA +12 more
core +1 more source
ABSTRACT Objective To (1) validate GAD65‐ELISA detection and quantification for type 1 diabetes mellitus and autoimmune neurological diagnoses, (2) correlate ELISA results (reference range < 5 IU/mL) with established radioimmunoprecipitation assay (RIA; ≤ 0.02 nmol/L), and (3) define ELISA clinical utility and pitfalls.
Andrew McKeon +11 more
wiley +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Psychological interventions to reduce positive symptoms in schizophrenia: systematic review and network meta-analysis. [PDF]
Psychological treatments are increasingly regarded as useful interventions for schizophrenia. However, a comprehensive evaluation of the available evidence is lacking and the benefit of psychological interventions for patients with current positive ...
Barbui, Corrado +23 more
core +3 more sources
ABSTRACT Objective High‐resolution MRI enables detailed assessment of intracranial vessel wall pathology in moyamoya vasculopathy. We aimed to classify adult moyamoya vasculopathy etiologies using high‐resolution MRI and to examine subtype‐specific associations between high‐resolution MRI features and ischemic infarction.
Guangsong Han +8 more
wiley +1 more source
The impact of mobile health interventions on patients with schizophrenia: a meta-analysis
ObjectiveTo systematically evaluate the impact of mobile health (mHealth) interventions on patients with schizophrenia.MethodsRandomized controlled trials (RCTs) concerning the effects of mHealth interventions on patients with schizophrenia were ...
Yongli Ye, Fangrui Zhang, Yangyang Zhou
doaj +1 more source

