4,531 research outputs found

    Exploring missing heritability in neurodevelopmental disorders:Learning from regulatory elements

    Get PDF
    In this thesis, I aimed to solve part of the missing heritability in neurodevelopmental disorders, using computational approaches. Next to the investigations of a novel epilepsy syndrome and investigations aiming to elucidate the regulation of the gene involved, I investigated and prioritized genomic sequences that have implications in gene regulation during the developmental stages of human brain, with the goal to create an atlas of high confidence non-coding regulatory elements that future studies can assess for genetic variants in genetically unexplained individuals suffering from neurodevelopmental disorders that are of suspected genetic origin

    Schizophrenia – time to commit to policy change

    Get PDF
    Schizophrenia is recognised as one of the most complex and profound mental health conditions, steeped in both myth and reality. Efforts needs to be multifaceted, including policy development, treatment guidance and scientific innovation, with all stakeholders working together to ensure meaningful progress. This report delves into the unique needs of people with schizophrenia, exploring supportive measures for their well-being, practical and attainable recommendations for change. The message to all nations, policy makers, payers and healthcare professionals is clear: strive for excellence, but most importantly – start somewhere

    Gene expression insights: Chronic stress and bipolar disorder: A bioinformatics investigation

    Get PDF
    Bipolar disorder (BD) is a psychiatric disorder that affects an increasing number of people worldwide. The mechanisms of BD are unclear, but some studies have suggested that it may be related to genetic factors with high heritability. Moreover, research has shown that chronic stress can contribute to the development of major illnesses. In this paper, we used bioinformatics methods to analyze the possible mechanisms of chronic stress affecting BD through various aspects. We obtained gene expression data from postmortem brains of BD patients and healthy controls in datasets GSE12649 and GSE53987, and we identified 11 chronic stress-related genes (CSRGs) that were differentially expressed in BD. Then, we screened five biomarkers (IGFBP6, ALOX5AP, MAOA, AIF1 and TRPM3) using machine learning models. We further validated the expression and diagnostic value of the biomarkers in other datasets (GSE5388 and GSE78936) and performed functional enrichment analysis, regulatory network analysis and drug prediction based on the biomarkers. Our bioinformatics analysis revealed that chronic stress can affect the occurrence and development of BD through many aspects, including monoamine oxidase production and decomposition, neuroinflammation, ion permeability, pain perception and others. In this paper, we confirm the importance of studying the genetic influences of chronic stress on BD and other psychiatric disorders and suggested that biomarkers related to chronic stress may be potential diagnostic tools and therapeutic targets for BD

    Sensory temporal sampling in time: an integrated model of the TSF and neural noise hypothesis as an etiological pathway for dyslexia

    Get PDF
    Much progress has been made in research on the causal mechanisms of developmental dyslexia. In recent years, the “temporal sampling” account of dyslexia has evolved considerably, with contributions from neurogenetics and novel imaging methods resulting in a much more complex etiological view of the disorder. The original temporal sampling framework implicates disrupted neural entrainment to speech as a causal factor for atypical phonological representations. Yet, empirical findings have not provided clear evidence of a low-level etiology for this endophenotype. In contrast, the neural noise hypothesis presents a theoretical view of the manifestation of dyslexia from the level of genes to behavior. However, its relative novelty (published in 2017) means that empirical research focused on specific predictions is sparse. The current paper reviews dyslexia research using a dual framework from the temporal sampling and neural noise hypotheses and discusses the complementary nature of these two views of dyslexia. We present an argument for an integrated model of sensory temporal sampling as an etiological pathway for dyslexia. Finally, we conclude with a brief discussion of outstanding questions

    Speech-based automatic depression detection via biomarkers identification and artificial intelligence approaches

    Get PDF
    Depression has become one of the most prevalent mental health issues, affecting more than 300 million people all over the world. However, due to factors such as limited medical resources and accessibility to health care, there are still a large number of patients undiagnosed. In addition, the traditional approaches to depression diagnosis have limitations because they are usually time-consuming, and depend on clinical experience that varies across different clinicians. From this perspective, the use of automatic depression detection can make the diagnosis process much faster and more accessible. In this thesis, we present the possibility of using speech for automatic depression detection. This is based on the findings in neuroscience that depressed patients have abnormal cognition mechanisms thus leading to the speech differs from that of healthy people. Therefore, in this thesis, we show two ways of benefiting from automatic depression detection, i.e., identifying speech markers of depression and constructing novel deep learning models to improve detection accuracy. The identification of speech markers tries to capture measurable depression traces left in speech. From this perspective, speech markers such as speech duration, pauses and correlation matrices are proposed. Speech duration and pauses take speech fluency into account, while correlation matrices represent the relationship between acoustic features and aim at capturing psychomotor retardation in depressed patients. Experimental results demonstrate that these proposed markers are effective at improving the performance in recognizing depressed speakers. In addition, such markers show statistically significant differences between depressed patients and non-depressed individuals, which explains the possibility of using these markers for depression detection and further confirms that depression leaves detectable traces in speech. In addition to the above, we propose an attention mechanism, Multi-local Attention (MLA), to emphasize depression-relevant information locally. Then we analyse the effectiveness of MLA on performance and efficiency. According to the experimental results, such a model can significantly improve performance and confidence in the detection while reducing the time required for recognition. Furthermore, we propose Cross-Data Multilevel Attention (CDMA) to emphasize different types of depression-relevant information, i.e., specific to each type of speech and common to both, by using multiple attention mechanisms. Experimental results demonstrate that the proposed model is effective to integrate different types of depression-relevant information in speech, improving the performance significantly for depression detection

    Clinical, immunological and genetic features of histiocytic disorders

    Get PDF

    An examination of the verbal behaviour of intergroup discrimination

    Get PDF
    This thesis examined relationships between psychological flexibility, psychological inflexibility, prejudicial attitudes, and dehumanization across three cross-sectional studies with an additional proposed experimental study. Psychological flexibility refers to mindful attention to the present moment, willing acceptance of private experiences, and engaging in behaviours congruent with one’s freely chosen values. Inflexibility, on the other hand, indicates a tendency to suppress unwanted thoughts and emotions, entanglement with one’s thoughts, and rigid behavioural patterns. Study 1 found limited correlations between inflexibility and sexism, racism, homonegativity, and dehumanization. Study 2 demonstrated more consistent positive associations between inflexibility and prejudice. And Study 3 controlled for right-wing authoritarianism and social dominance orientation, finding inflexibility predicted hostile sexism and racism beyond these factors. While showing some relationships, particularly with sexism and racism, psychological inflexibility did not consistently correlate with varied prejudices across studies. The proposed randomized controlled trial aims to evaluate an Acceptance and Commitment Therapy intervention to reduce sexism through enhanced psychological flexibility. Overall, findings provide mixed support for the utility of flexibility-based skills in addressing complex societal prejudices. Research should continue examining flexibility integrated with socio-cultural approaches to promote equity

    UMSL Bulletin 2023-2024

    Get PDF
    The 2023-2024 Bulletin and Course Catalog for the University of Missouri St. Louis.https://irl.umsl.edu/bulletin/1088/thumbnail.jp

    Alzheimer’s And Parkinson’s Disease Classification Using Deep Learning Based On MRI: A Review

    Get PDF
    Neurodegenerative disorders present a current challenge for accurate diagnosis and for providing precise prognostic information. Alzheimer’s disease (AD) and Parkinson's disease (PD), may take several years to obtain a definitive diagnosis. Due to the increased aging population in developed countries, neurodegenerative diseases such as AD and PD have become more prevalent and thus new technologies and more accurate tests are needed to improve and accelerate the diagnostic procedure in the early stages of these diseases. Deep learning has shown significant promise in computer-assisted AD and PD diagnosis based on MRI with the widespread use of artificial intelligence in the medical domain. This article analyses and evaluates the effectiveness of existing Deep learning (DL)-based approaches to identify neurological illnesses using MRI data obtained using various modalities, including functional and structural MRI. Several current research issues are identified toward the conclusion, along with several potential future study directions

    UMSL Bulletin 2022-2023

    Get PDF
    The 2022-2023 Bulletin and Course Catalog for the University of Missouri St. Louis.https://irl.umsl.edu/bulletin/1087/thumbnail.jp
    corecore