Religion ist irrational und Irrationalität ist dysfunktional?

Der Rational-Emotiven-Theorie (RET) von Albert Ellis zufolge sind irrationale Gedanken eine zentrale Ursache für dysfunktionale psychopathologische Zustände. Auch Religiosität wird in diesem Sinne als irrational dargestellt. Hieraus wird abgeleitet, dass religiösere Menschen in höherer Weise zu dysfunktionalen irrationalen Gedanken neigen, die wiederum die Lebenszufriedenheit negativ beeinflussen. Zur Hypothesenprüfung beantworteten Probanden in einer Fragebogenstudie Skalen zur Erfassung verschiedener Religiositätsaspekte (intrinsische und extrinsische Religiosität, Durch-Gott-Mediierte Kontrolle) und klinisch validierte Skalen zu irrationalen Einstellungen sowie eine Frage zur Lebenszufriedenheit. Es zeigen sich signifikante Zusammenhänge zwischen den Religiositätsskalen und Irrationalitätsskalen. Insbesondere die extrinsische Religiosität, die als oberflächlicher Glaube zur bloßen Sicherung von sozialer Akzeptanz konzipiert ist, korreliert signifikant stärker mit klinischen Irrationalitätsskalen als die intrinsische Religiosität, die als verinnerlichter, verantwortlich gelebter Glaube definiert ist. Die Irrationalitätsskalen wiederum korrelieren hypothesenkonform signifikant mit der Lebenszufriedenheit. Quasiexperimentelle Extremgruppenvergleiche zwischen schwach und stark religiösen Personen erbringen für letztere signifikant erhöhte Irrationalitätswerte

Evaluating Depressive Symptoms in Schizophrenia: A Psychometric Comparison of the Calgary Depression Scale for Schizophrenia and the Hamilton Depression Rating Scale

Background: The aim of this study was to compare two measures of depression in patients with schizophrenia and schizophrenia spectrum disorder, including patients with delusional and schizoaffective disorder, to conclude implications for their application. Sampling and Methods: A total of 278 patients were assessed using the Calgary Depression Scale for Schizophrenia (CDSS) and the Hamilton Depression Rating Scale (HAMD-17). The Positive and Negative Syndrome Scale (PANSS) was also applied. At admission and discharge, a principal component analysis was performed with each depression scale. The two depression rating scales were furthermore compared using correlation and regression analyses. Results: Three factors were revealed for the CDSS and HAMD-17 factor component analysis. A very similar item loading was found for the CDSS at admission and discharge, whereas results of the loadings of the HAMD-17 items were less stable. The first two factors of the CDSS revealed correlations with positive, negative and general psychopathology. In contrast, multiple significant correlations were found for the HAMD-17 factors and the PANSS sub-scores. Multiple regression analyses demonstrated that the HAMD-17 accounted more for the positive and negative symptom domains than the CDSS. Conclusions:The present results suggest that compared to the HAMD-17, the CDSS is a more specific instrument to measure depressive symptoms in schizophrenia and schizophrenia spectrum disorder, especially in acutely ill patients. Copyright (c) 2012 S. Karger AG, Base

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology

Heterozygous, pathogenic CUX1 variants are associated with global developmental delay or intellectual disability. This study delineates the clinical presentation in an extended cohort and investigates the molecular mechanism underlying the disorder in a Cux1+/− mouse model. Through international collaboration, we assembled the phenotypic and molecular information for 34 individuals (23 unpublished individuals). We analyze brain CUX1 expression and susceptibility to epilepsy in Cux1+/− mice. We describe 34 individuals, from which 30 were unrelated, with 26 different null and four missense variants. The leading symptoms were mild to moderate delayed speech and motor development and borderline to moderate intellectual disability. Additional symptoms were muscular hypotonia, seizures, joint laxity, and abnormalities of the forehead. In Cux1+/− mice, we found delayed growth, histologically normal brains, and increased susceptibility to seizures. In Cux1+/− brains, the expression of Cux1 transcripts was half of WT animals. Expression of CUX1 proteins was reduced, although in early postnatal animals significantly more than in adults. In summary, disease-causing CUX1 variants result in a non-syndromic phenotype of developmental delay and intellectual disability. In some individuals, this phenotype ameliorates with age, resulting in a clinical catch-up and normal IQ in adulthood. The post-transcriptional balance of CUX1 expression in the heterozygous brain at late developmental stages appears important for this favorable clinical course.CAG was supported by the Eunice Kennedy Shriver National Institute Of Child Health & Human Development of the National Institutes of Health under Award Number P50 HD103525. This work was funded by PID2020-112831GB-I00 AEI /10.13039/501100011033 (MN). SS was supported by a grant from the NIH/NINDS (K23NS119666). SWS is supported by the Hospital for Sick Children Foundation, Autism Speaks, and the University of Toronto McLaughlin Center. EM-G was supported by a grant from MICIU FPU18/06240. EVS. was supported by a grant from the NIH (EY025718). CRF was supported by the fund to support clinical research careers in the Region of Southern Denmark (Region Syddanmarks pulje for kliniske forskerkarriereforløb).Peer reviewe

Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

DYX1C1 is required for axonemal dynein assembly and ciliary motility

DYX1C1 has been associated with dyslexia and neuronal migration in the developing neocortex. Unexpectedly, we found that deleting exons 2–4 of Dyx1c1 in mice caused a phenotype resembling primary ciliary dyskinesia (PCD), a disorder characterized by chronic airway disease, laterality defects and male infertility. This phenotype was confirmed independently in mice with a Dyx1c1 c.T2A start-codon mutation recovered from an N-ethyl-N-nitrosourea (ENU) mutagenesis screen. Morpholinos targeting dyx1c1 in zebrafish also caused laterality and ciliary motility defects. In humans, we identified recessive loss-of-function DYX1C1 mutations in 12 individuals with PCD. Ultrastructural and immunofluorescence analyses of DYX1C1-mutant motile cilia in mice and humans showed disruptions of outer and inner dynein arms (ODAs and IDAs, respectively). DYX1C1 localizes to the cytoplasm of respiratory epithelial cells, its interactome is enriched for molecular chaperones, and it interacts with the cytoplasmic ODA and IDA assembly factor DNAAF2 (KTU). Thus, we propose that DYX1C1 is a newly identified dynein axonemal assembly factor (DNAAF4)

Factors Associated with Revision Surgery after Internal Fixation of Hip Fractures

Background: Femoral neck fractures are associated with high rates of revision surgery after management with internal fixation. Using data from the Fixation using Alternative Implants for the Treatment of Hip fractures (FAITH) trial evaluating methods of internal fixation in patients with femoral neck fractures, we investigated associations between baseline and surgical factors and the need for revision surgery to promote healing, relieve pain, treat infection or improve function over 24 months postsurgery. Additionally, we investigated factors associated with (1) hardware removal and (2) implant exchange from cancellous screws (CS) or sliding hip screw (SHS) to total hip arthroplasty, hemiarthroplasty, or another internal fixation device. Methods: We identified 15 potential factors a priori that may be associated with revision surgery, 7 with hardware removal, and 14 with implant exchange. We used multivariable Cox proportional hazards analyses in our investigation. Results: Factors associated with increased risk of revision surgery included: female sex, [hazard ratio (HR) 1.79, 95% confidence interval (CI) 1.25-2.50; P = 0.001], higher body mass index (fo

Demenzfreundliche Kommunen in Deutschland und England – ein Blick auf mögliche Perspektiven

Der folgende Beitrag diskutiert die Möglichkeiten und Grenzen einer zivilgesellschaftlichen Alternative zum herkömmlichen medikalen Blick auf Menschen mit Demenz (MmD). Konkret geht es um die demenzfreundlichen Kommunen (DfK). Ziel des Beitrags ist es, vor dem Hintergrund der britischen Erfahrungen mit DfK auf eine Gefahr hinzuweisen: die Instrumentalisierung der DfK durch die Regierung und einer damit verbundenen Institutionalisierung als Teil des Versorgungssystems. Damit wird der alternative Zugang der DfK zum etablierten Versorgungssystem ad absurdum geführt. Mit diesem Aufzeigen von Kontingenzen wird ein konstruktives Anliegen verfolgt, nämlich mögliche Optionen für die DfK in Deutschland zu eröffnen.   Dementia-friendly Communities in Germany and England – a Look at Possible Perspectives This article discusses the possibilities and limitations of a civil-societal alternative to common medicalised views of people with dementia (pwd). Against the backdrop of the British experiences with dementia-friendly communities (dfc), the aim of this paper is to point out the risk of dfc being exploited by the government and institutionalised as a part of the care system. By demonstrating contingencies, possible options for dfc in Germany are explored. The alternative approach to dfc in Germany is based on the critique of medicalisation, accentuation of the perspective of the persons affected, and a critical understanding of inclusion of pwd. A recent governmentality study explored the conception of dfc in England. The findings show that dementia is problematised as a disease, pwd are constructed as objects and subjects of knowledge, dfc are exploited by governmental strategies, and ultimately institutionalised as a part of the care system. Conclusively, this misappropriation of the original idea of dfc is confronted with the possibilities of a new view of pwd and a new quality of dementia policy

Biallelic variants in the calpain regulatory subunit CAPNS1 cause pulmonary arterial hypertension.

PURPOSE The aim of this study was to identify the monogenic cause of pulmonary arterial hypertension (PAH), a multifactorial and often fatal disease, in 2 unrelated consanguine families. METHODS We performed exome sequencing and validated variant pathogenicity by whole-blood RNA and protein expression analysis in both families. Further RNA sequencing of preserved lung tissue was performed to investigate the consequences on selected genes that are involved in angiogenesis, proliferation, and apoptosis. RESULTS We identified 2 rare biallelic variants in CAPNS1, encoding the regulatory subunit of calpain. The variants cosegregated with PAH in the families. Both variants lead to loss of function (LoF), which is demonstrated by aberrant splicing resulting in the complete absence of the CAPNS1 protein in affected patients. No other LoF CAPNS1 variant was identified in the genome data of more than 1000 patients with unresolved PAH. CONCLUSION The calpain holoenzyme was previously linked to pulmonary vascular development and progression of PAH in patients. We demonstrated that biallelic LoF variants in CAPNS1 can cause idiopathic PAH by the complete absence of CAPNS1 protein. Screening of this gene in patients who are affected by PAH, especially with suspected autosomal recessive inheritance, should be considered