3D-визуализация в ультразвуковой дефектоскопии

На сегодняшний день существует множество средств визуализации ультразвуковых данных, но все они, как правило, интегрированы в дефектоскопы. Когда у нас возникает потребность извлечь данные сканирования, произвести собственную обработку, и представить в трехмерном изображении, то мы оказываемся лишенными возможности визуализации. Предложенное программное обеспечение на основе алгоритма SAFT позволяет произвести постобработку данных сканирования (А-сканов) и двумерную и трехмерную визуализацию

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which identified 15 risk loci. When combined with 8,953 individuals with whole-genome sequencing (6,538 patients, 2,415 controls) and a large cortex-derived expression quantitative trait locus (eQTL) dataset (MetaBrain), analyses revealed locus-specific genetic architectures in which we prioritized genes either through rare variants, short tandem repeats or regulatory effects. ALS-associated risk loci were shared with multiple traits within the neurodegenerative spectrum but with distinct enrichment patterns across brain regions and cell types. Of the environmental and lifestyle risk factors obtained from the literature, Mendelian randomization analyses indicated a causal role for high cholesterol levels. The combination of all ALS-associated signals reveals a role for perturbations in vesicle-mediated transport and autophagy and provides evidence for cell-autonomous disease initiation in glutamatergic neurons. A cross-ancestry genome-wide association meta-analysis of amyotrophic lateral sclerosis (ALS) including 29,612 patients with ALS and 122,656 controls identifies 15 risk loci with distinct genetic architectures and neuron-specific biology

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which identified 15 risk loci. When combined with 8,953 individuals with whole-genome sequencing (6,538 patients, 2,415 controls) and a large cortex-derived expression quantitative trait locus (eQTL) dataset (MetaBrain), analyses revealed locus-specific genetic architectures in which we prioritized genes either through rare variants, short tandem repeats or regulatory effects. ALS-associated risk loci were shared with multiple traits within the neurodegenerative spectrum but with distinct enrichment patterns across brain regions and cell types. Of the environmental and lifestyle risk factors obtained from the literature, Mendelian randomization analyses indicated a causal role for high cholesterol levels. The combination of all ALS-associated signals reveals a role for perturbations in vesicle-mediated transport and autophagy and provides evidence for cell-autonomous disease initiation in glutamatergic neurons. A cross-ancestry genome-wide association meta-analysis of amyotrophic lateral sclerosis (ALS) including 29,612 patients with ALS and 122,656 controls identifies 15 risk loci with distinct genetic architectures and neuron-specific biology

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

A cross-ancestry genome-wide association meta-analysis of amyotrophic lateral sclerosis (ALS) including 29,612 patients with ALS and 122,656 controls identifies 15 risk loci with distinct genetic architectures and neuron-specific biology. Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which identified 15 risk loci. When combined with 8,953 individuals with whole-genome sequencing (6,538 patients, 2,415 controls) and a large cortex-derived expression quantitative trait locus (eQTL) dataset (MetaBrain), analyses revealed locus-specific genetic architectures in which we prioritized genes either through rare variants, short tandem repeats or regulatory effects. ALS-associated risk loci were shared with multiple traits within the neurodegenerative spectrum but with distinct enrichment patterns across brain regions and cell types. Of the environmental and lifestyle risk factors obtained from the literature, Mendelian randomization analyses indicated a causal role for high cholesterol levels. The combination of all ALS-associated signals reveals a role for perturbations in vesicle-mediated transport and autophagy and provides evidence for cell-autonomous disease initiation in glutamatergic neurons

Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy

Because hyper-excitability has been shown to be a shared pathophysiological mechanism, we used the latest and largest genome-wide studies in amyotrophic lateral sclerosis (n = 36,052) and epilepsy (n = 38,349) to determine genetic overlap between these conditions. First, we showed no significant genetic correlation, also when binned on minor allele frequency. Second, we confirmed the absence of polygenic overlap using genomic risk score analysis. Finally, we did not identify pleiotropic variants in meta-analyses of the 2 diseases. Our findings indicate that amyotrophic lateral sclerosis and epilepsy do not share common genetic risk, showing that hyper-excitability in both disorders has distinct origins

Genetic correlation between amyotrophic lateral sclerosis and schizophrenia

A. Palotie on työryhmän Schizophrenia Working Grp Psychiat jäsen.We have previously shown higher-than-expected rates of schizophrenia in relatives of patients with amyotrophic lateral sclerosis (ALS), suggesting an aetiological relationship between the diseases. Here, we investigate the genetic relationship between ALS and schizophrenia using genome-wide association study data from over 100,000 unique individuals. Using linkage disequilibrium score regression, we estimate the genetic correlation between ALS and schizophrenia to be 14.3% (7.05-21.6; P = 1 x 10(-4)) with schizophrenia polygenic risk scores explaining up to 0.12% of the variance in ALS (P = 8.4 x 10(-7)). A modest increase in comorbidity of ALS and schizophrenia is expected given these findings (odds ratio 1.08-1.26) but this would require very large studies to observe epidemiologically. We identify five potential novel ALS-associated loci using conditional false discovery rate analysis. It is likely that shared neurobiological mechanisms between these two disorders will engender novel hypotheses in future preclinical and clinical studies.Peer reviewe

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which identified 15 risk loci. When combined with 8,953 individuals with whole-genome sequencing (6,538 patients, 2,415 controls) and a large cortex-derived expression quantitative trait locus (eQTL) dataset (MetaBrain), analyses revealed locus-specific genetic architectures in which we prioritized genes either through rare variants, short tandem repeats or regulatory effects. ALS-associated risk loci were shared with multiple traits within the neurodegenerative spectrum but with distinct enrichment patterns across brain regions and cell types. Of the environmental and lifestyle risk factors obtained from the literature, Mendelian randomization analyses indicated a causal role for high cholesterol levels. The combination of all ALS-associated signals reveals a role for perturbations in vesicle-mediated transport and autophagy and provides evidence for cell-autonomous disease initiation in glutamatergic neurons.peer-reviewe

Attentional Bias in Children with Social Anxiety Disorder

Schmidtendorf S, Wiedau S, Asbrand J, Tuschen-Caffier B, Heinrichs N. Attentional Bias in Children with Social Anxiety Disorder. Cognitive Therapy and Research. 2018;42(3):273-288.Previous research stated a robust attentional bias to threat in adult anxiety. However, the number of studies analyzing attentional biases in clinically anxious children is limited and results are inconsistent. The present study aims to assess attentional biases in children with social anxiety disorder (n = 37) and healthy control children (n = 42) using a free-viewing eye-tracking paradigm. Children viewed different picture pairs consisting of social and non-social stimuli under two conditions (with/without a stressor to activate social threat perception). We found the direction of gaze regarding threatening stimuli to be context-dependent. Both groups showed a hypervigilance-avoidance pattern to angry faces when they were paired with houses. In face–face trials, angry faces were less often initially fixated than neutral or happy faces in both groups. However, schema activation differentially affected initial fixations in angry-neutral face pairs across groups. Children with social anxiety disorder more often initially directed their gaze to angry faces than did healthy control children, indicating a lack of inhibiting threat representations rather than a hypervigilance to threat

Initial Maintenance of Attention to Threat in Children with Social Anxiety Disorder? Findings from an Eye-Tracking Experiment

Schmidtendorf S, Herwig A, Wiedau S, Asbrand J, Tuschen-Caffier B, Heinrichs N. Initial Maintenance of Attention to Threat in Children with Social Anxiety Disorder? Findings from an Eye-Tracking Experiment. Cognitive Therapy and Research. 2022;46(1):197-208.**Background** Attentional biases are assumed to be a core feature in the etiology and maintenance of clinical anxiety. The present study focuses oninitial maintenance of attentionto threat, one of three attentional components investigated the least, particularly in child anxiety. **Methods** Angry and neutral facial expressions were presented in a free-viewing task, while eye-movements were recorded. Participants wereN = 96 school-aged children, withn = 50 children with a clinical social anxiety disorder (SAD) andn = 46 healthy control children (HC). Prior to the task, social stress was induced in half of participating children to investigate the impact of increased levels of distress on initial attention allocation. **Results** The length of first fixation to angry faces in children with SAD neither differed from the length of first fixation to neutral faces nor the length of first fixation to angry faces in HC children. Furthermore, this variable was not affected by a stress induction procedure. However, children with SAD initially fixated longer on faces than HC children. **Conclusion** Our findings provide evidence for difficulties disengaging attention from faces. This may indicate that attention allocation is determined by the social nature of the stimuli rather than by the specific emotional valence

Initial Maintenance of Attention to Threat in Children with Social Anxiety Disorder? Findings from an Eye-Tracking Experiment

Background: Attentional biases are assumed to be a core feature in the etiology and maintenance of clinical anxiety. The present study focuses on initial maintenance of attention to threat, one of three attentional components investigated the least, particularly in child anxiety. Methods: Angry and neutral facial expressions were presented in a free-viewing task, while eye-movements were recorded. Participants were N = 96 school-aged children, with n = 50 children with a clinical social anxiety disorder (SAD) and n = 46 healthy control children (HC). Prior to the task, social stress was induced in half of participating children to investigate the impact of increased levels of distress on initial attention allocation. Results: The length of first fixation to angry faces in children with SAD neither differed from the length of first fixation to neutral faces nor the length of first fixation to angry faces in HC children. Furthermore, this variable was not affected by a stress induction procedure. However, children with SAD initially fixated longer on faces than HC children. Conclusion: Our findings provide evidence for difficulties disengaging attention from faces. This may indicate that attention allocation is determined by the social nature of the stimuli rather than by the specific emotional valence