Wilson disease (WD) is a recessively inherited copper storage disorder mainly affecting liver and brain. Genotype/phenotype correlations have been report ed but as yet not regarding psychic symptoms. Our aim was to investigate if a correlation might exist between genotype and phenotype concerning psychopathology and/or personality traits in patients with treated WD. Nine homozygous and three compound heterozygous Swedish patients were retrospectively investigated, representing four different mutation settings. Psychopathological symptoms were studied using the Comprehensive Psychopathological Rating Scale (CPRS), personality traits using the Karolinska Scales of Personality (KSP) and mutations were analyzed by manifold sequencing. Psychopathological symptoms: Patients with the Trp779Stop mutation had the lowest scores on the total CPRS, due to less pronounced reported CPRS items, as compared to the other three groups of patients. Compound heterozygotes for the His1069Gln/Arg1319Stop mutation showed the highest total CPRS scores. Personality traits: Patients homozygous for the Trp779Stop and the Thr977Met mutations had high scores on Psychopathy related scales whereas patients with His1069Gln/Arg1319Stop mutations had the lowest scores on these scales. Serum ceruloplasmin levels were undetectable in all patients with the Trp779Stop and Thr977Met mutations. The results show a trend towards a genotype/phenotype correlation regarding psychopathological symptoms and personality traits in treated patients with WD. If replicable, these results might contribute to the elucidation of the possible clinical importance of functionally deleterious gene mutations in WD psychopathology and personality traits.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.3109/2000-1967-216 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Study Objectives: 1) To determine the efficacy of Cognitive Behavioral Therapy for Insomnia (CBT-I) for improving insomnia, alcohol-related outcomes, and daytime functioning at post-treatment and at 3- and 6-month follow-up, in a largely African American Veteran sample; 2) Evaluate whether improvement in insomnia is associated with a reduction in alcohol-related outcomes post-treatment.
Methods: An RCT of CBT-I (n = 31) compared to Quasi-Desensitization therapy (QDT, n = 32), eight weekly in-person sessions, with assessments at baseline, end of treatment (8 weeks), and 3- and 6-months post-treatment. Primary outcomes were the Insomnia Severity Index (ISI) total score, and Percent Days Abstinent (PDA).
A study on the effect of biostimulant application on yield and quality of tomato under long-lasting water stress conditions.
Heliyon
January 2025
CNR-Istituto per la BioEconomia (IBE), Sede Secondaria di Catania, Via P. Gaifami 18, 95126, Catania, Italy.
Recently, the use of plant-derived biostimulants has been suggested as a sustainable way to improve the nutritional quality of tomato and mitigate the effects of environmental stresses In this regard, a two-year experiment was conducted in open field on four cultivars of tomato (two commercial tomatoes and two local landraces of long shelf-life tomato), to assess the crop response, in terms of fruit yield and quality traits, to the foliar application of two plant-derived biostimulants based on protein hydrolysates (PH), under opposite water regimes (no irrigation and full irrigation), in a semi-arid environment of South Italy. Tomato plants in field were sprayed with a solution containing one of the two biostimulants approximately every 15 days. Full irrigation significantly promoted plant productivity, leading to yields the 22 % and 57 % higher than those produced under no irrigation.
View Article and Find Full Text PDFIndividuals with high autistic traits exhibit altered interhemispheric brain functional connectivity patterns.
Cogn Neurodyn
December 2025
School of Medicine, Tianjin University, Tianjin, China.
Individuals with high autistic traits (AT) encounter challenges in social interaction, similar to autistic persons. Precise screening and focused interventions positively contribute to improving this situation. Functional connectivity analyses can measure information transmission and integration between brain regions, providing neurophysiological insights into these challenges.
View Article and Find Full Text PDFAn intersectional examination of the relationship between racial/ethnic discrimination and psychotic-like experiences: the role of other psychiatric symptoms.
Eur Psychiatry
January 2025
Department of Psychology and Neuroscience, Temple University, Philadelphia, PA, USA.
Background: Racial and ethnic experiences of discrimination (EODs) are associated with numerous psychiatric symptoms, including outcomes along the psychosis spectrum; however, less is known about mechanisms by which EODs confer risk for psychotic-like experiences (PLEs; common subthreshold psychotic symptoms). Furthermore, work on gendered racism asserts that the intersection of race and gender impacts the nature of EODs experienced and, in turn, may impact the relationship between EODs and PLEs.
Aims: To utilize an intersectional lens (race and gender) to examine whether psychological correlates of EODs (post-traumatic stress, anxiety, depression, and dissociation) mediate the EOD-PLE relationship.
Self-reported mandible bracing and teeth clenching are associated with anxiety and depression traits in a group of healthy young individuals.
J Oral Facial Pain Headache
December 2024
Department of Medical Biotechnologies, School of Dentistry, University of Siena, 53100 Siena, Italy.
To assess the correlation between awake bruxism (AB) behaviors and psychological status in a group of healthy young adults. Participants were recruited at the University of Siena, Siena, Italy, by advertising the initiative. The reported frequency of AB behaviors was evaluated through the Oral Behavior Checklist (OBC).
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!