Дисертации / Dissertations

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http://cml4.mu-sofia.bg:4000/handle/10861/34

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Търсене Дисертации / Dissertations от Автор "Penchev, Mladen Germanov"

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    Когнитивни нарушения и генетични маркери при пациенти с биполярно афективно разстройство, шизофрения и техните родственици
    (Медицински университет - София // Medical University - Sofia, 2021) Пенчев, Младен Германов // ; Penchev, Mladen Germanov
    ЦЕЛ И ЗАДАЧИ Цели: Целите на настоящата работа са: 1. Обективизиране и сравнениe на когнитивните нарушения при пациенти с шизофренно разстройство и с биполярно афективно разстройство. 2. Оценка на въздействието на някои клинични фактори върху когнитивните нарушения при пациенти с шизофренно разстройство и с биполярно афективно разстройство. 3. Сравняване на резултати на контролите родственици на пациенти с тези на контролите неродственици. 4. Търсене на генетични маркери за двете разстройства и връзката им с когнитивните нарушения. 5. Установяване наличието на когнитивен ендофенотип при двете разстройства. Задачи: 1. Да се съберат клинични и социодемографски данни за участниците чрез съответно полуструктурирано интервю. 2. Да се оценят когнитивните функции на пациентите с биполярно и с шизофренно разстройство и на здрави контроли с тестови инструменти. 3. Да се сравнят резултатите от когнитивните тестове на пациентите, контролите родственици и контролите неродственици. 4. Да се анализират получените данни, за да се установи влиянието на различни клинични фактори върху когнитивните функции. 5. Да се проучи влиянието на някои генетични маркери при двете разстройства. 6. Да се анализира връзката между генетичните маркери, когнитивните нарушения и клиничната картина. // Summary. Introduction: In the current study, cognitive dysfunctions in patients with bipolar affective disorder, schizophrenia and their relatives are discussed and some genetic markers for this dysfunctions. The results of the neurocognitive tests of the patients with both disorders and their first and second degree relatives are compared and the results of the three groups (patients with schizophrenia, patients with bipolar disorder, relatives of patients with schizophrenia and bipolar disorder) are compared with healthy controls. The average high school score of the investigated patients is also discussed. The impact of some genetic polymorphisms on the cognitive function of the patients with both disorders and their first and second degree relatives is investigated and the results are compared to healthy controls. Materials and methods: The study had a cross-sectional design and was conducted in collaboration with the Centre of Molecular Medicine in MU - Sofia. The participants were patients of the University Psychiatric Clinic of UMHAT Alexandrovska and also patients who visited the outpatient psychiatric services. The cognitive functions of the hospitalized patients were investigated before discharge. The controls were healthy volunteers. 10 ml venous blood was taken from the patients and the controls for genetic analysis. The cognitive status was investigated by neurocognitive tests – trail making test (TMT) – A and B, digit symbol test (DST) and test for verbal fluency (VFT). The clinical status and course of the disorder were recorded through the Diagnostic Interview for Psychosis (DIP). The DNA analysis was made in the Centre of Molecular Medicine, MU – Sofia with Chemagic Magnetic Separation Module. The statistic analysis was made with SPSS – 19. The participants in the study were 132. 42 of them were patients with bipolar affective disorder, 53 with schizophrenia and 37 were healthy controls. The age of the participants was between 18 and 37 years. Results: The results of part A of TMT showed a significant difference between controls and patients with schizophrenia and between patients with schizophrenia and patients with bipolar disorder. A difference between the results of controls and patients with bipolar affective disorder was observed but did not reach a statistical significance. The same significant differences were observed in part B of TMT – between controls and patients with schizophrenia and between both groups of patients. There was no significant difference between controls and patients with bipolar disorder. The results of DST also showed significant differences between the different groups. The results of the test of verbal fluency showed similar differences and distribution of the results as the other cognitive tests. Significant differences of the scores of the neurocognitive tests between the two groups of controls (relatives and non-relatives) were observed. The better results were of the non-relatives. In DST and VFT the differences were significant and in TMT-A and TMT-B the results did not reach a clinical significance although the results of the non-relatives were better. The attention was focused on the polymorphisms rs12363494 in the gene MUC5B and rs765685405 in the gene CACNA1S and was found that these polymorphisms have a negative impact on the performance on the cognitive tests. Conclusion: Cognitive dysfunctions in both groups of patients compared to controls are established with more impaired cognitive function in the group of patients with schizophrenia. The relatives of the patients also show worse results than the healthy controls. Both groups of patients and their relatives have lower high school scores compared to controls. Specific gene polymorphisms have a negative impact on the cognitive function.