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1.
Neuro Endocrinol Lett ; 44(5): 290-296, 2023 Jul 28.
Artigo em Inglês | MEDLINE | ID: mdl-37524318

RESUMO

OBJECTIVES: Studies of schizophrenia endophenotypes may help clinicians better understand the etiopathogenesis and treatment of this mental disorder. The aim of the study was to determine if retinal arteriolar or venular abnormalities are an endophenotype of schizophrenia. DESIGN: We performed a one-time cross-sectional study. MATERIALS AND METHODS: We enlisted schizophrenic patients (n = 53) hospitalized in the Department of Psychiatry, University Hospital Hradec Kralove; their mentally healthy first-degree relatives (n = 53); and unrelated, age- and sex-matched mentally healthy controls (n = 49). We recorded all participants´ sociodemographic and, if relevant, clinical variables. Retinal imaging was carried out using a digital fundus camera (FF450 + IR). Outcomes included retinal vessel calibers measured using the software application VAMPIRE. RESULTS: The study enrolled fifty-three schizophrenic patients (average age 32.1 years; males n = 38), an equal number of healthy relatives (average age 47.3 years; males n = 18), and forty-nine unrelated healthy controls (average age 32.2 years; males n = 35). Patients with schizophrenia had significantly increased retinal arteriolar diameters when compared to unrelated healthy controls (left eye p = 0.003; right eye p = 0.011) but not when compared to healthy relatives. The sizes of the retinal venules were not significantly different among the study groups. CONCLUSIONS: Our cross-sectional findings do not support the notion that retinal microvascular anomalies are an endophenotype in schizophrenia. Longitudinal studies of this subject should be included in further research.

2.
Artigo em Inglês | MEDLINE | ID: mdl-37465892

RESUMO

BACKGROUND: The aim of our study was to find a possible association between retinal microvascular abnormality and major depression in a non-geriatric population. METHOD: The participants with major depression were hospitalised at the University Hospital in Hradec Kralove, Department of Psychiatry. Retinal images were obtained using a stationary Fundus camera FF450 by Zeiss and a hand-held camera by oDocs. RESULTS: Fifty patients (men n=18, women n=32) aged 16 to 55 (men's average age 33.7±9.9 years, women's average age 37.9±11.5 years) were compared with fifty mentally healthy subjects (men n=28, women n=22) aged 18 to 61 (men's average age 35.3±9.2 years, women's average age 36.6±10.6 years) in a cross-sectional design. The patients were diagnosed with a single depressive episode (n=26) or a recurrent depressive disorder (n=24) according to the ICD-10 classification. Our results confirmed significant microvascular changes in the retina in patients with depressive disorder in comparison to the control group of mentally healthy subjects, with significantly larger arteriolar (P<0.0001) as well as venular (P<0.001-0.0001) calibres in major depression. CONCLUSION: According to the literature, acute and chronic neuroinflammation is associated with changes in microvascular form and function. The endothelium becomes a major participant in the inflammatory response damaging the surrounding tissue and its function. Because the retina and brain tissue share a common embryonic origin, we suspect similar microvascular pathology in the retina and in the brain in major depression. Our results may contribute to a better understanding of depression etiopathogenesis and to its personalized treatment.

3.
Neuropsychiatr Dis Treat ; 19: 349-359, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36785848

RESUMO

Background: Both genetic and environmental factors are important in etiology of mental disorders. Calculating polyenviromic risk/protective scores provides an updated perspective in research on the environmental causes of psychiatric disorders. We aimed to compare environmental risk and protective factors in patients with psychosis or a mood disorder (PSYCH+MOOD) and those with an anxiety disorder (ANX). Methods: We administered the internationally accepted questionnaire from the EUropean Network of National Schizophrenia Networks Studying Gene-Environment Interactions (EU-GEI) study, enriched with mood and anxiety disorder-relevant measures, to patients at two large university hospitals in the Czech Republic. Results: Ninety-four PSYCH+MOOD patients (average age 42.5 years; 46 males) and 52 ANX patients (average age 47.2 years; 17 males) participated. Neither polyenviromic risk score nor polyenviromic protective score differed significantly between PSYCH+MOOD and ANX groups (p = 0.149; p = 0.466, respectively). Conclusion: Scientific validity of the polyenviromic risk/protective score construct must still be demonstrated in large psychiatric samples, ideally in prospective studies. Nevertheless, researchers have already started to investigate environmental factors in the etiology of mental disorders in their complexity, similarly to polygenic risk scores.

5.
Neuropsychiatr Dis Treat ; 16: 1147-1156, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32440130

RESUMO

BACKGROUND: Mental disorders affect about one-third of the human population, are typically chronic and significantly decrease the quality of life. Presently, the treatment of mental illnesses is far from adequate with a substantial proportion of the patients being pharmacoresistant and suffering from relapses. One of the reasons for this complicated situation is that we do not precisely know about the causes of mental disorders, so their treatment cannot be causal. The etiology of a mental disorder is typically based on a combination of molecular (genetic) and environmental factors. AIM: The aim of the project is to discover the gene-environment interactions (GxE) in a wide spectrum of mental disorders. METHODS: The design of our study is innovative in the sense that we intend to study large groups of associated mental disorders as a whole instead of in isolation. This would enable us to map out the possible environmental causal factors in detail in relation to their character, magnitude and timing. The project also allows a study of genetics (including epigenetics and microbiomes) as well as the environment simultaneously. We plan on involving three study groups: the first group are patients suffering from schizophrenia or a mood disorder such as major depression, recurrent depressive disorder and bipolar affective disorder; the second group of patients have anxiety disorders; and the third group are healthy volunteers from the general population who are genetically unrelated. All of the study subjects will undergo the following assessments: a psychiatric examination, the identification of stressful life events with the aid of a questionnaire, the examination of their reaction to stress, genetic and epigenetic (microRNA) assessments and the analysis of oral and gut microbiome. CONCLUSION: We expect that some of the genetic as well as environmental factors in the studied mental disorders are shared, while some others are specific. We also expect that the GxE (gene-environment interaction) in schizophrenic and affective disorders will be different from the GxE in anxiety disorders and that the GxE in the studied mental disorders will differ generally from the GxE in healthy volunteers. Our results can help in the prevention and individualized treatment of a range of mental disorders.

6.
Acta Medica (Hradec Kralove) ; 62(2): 45-51, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31362812

RESUMO

OBJECTIVE: The aim of this article is to review the interface between psychiatry and ophthalmology at several levels, such as the influence of psychopharmacology on eye disorders, the occurrence of psychiatric symptoms in eye diseases, and the neuroophthalmological examination methods supporting the validity of psychiatric diagnoses. MATERIALS AND METHODS: We searched the PubMed computer database for the key words "Psychiatry" and "Ophthalmology" on the 28th of August, 2018 to obtain relevant articles which were consequently summarized. RESULTS: The results showed that most patients with ocular disease simultaneously have one or more psychiatric symptoms. We also found a prevalence of eye-related side effects in patients who use psychiatric drugs. At the same time, we observed that some ophthalmology methods of diagnostics can be used as diagnostic tools in psychiatry. CONCLUSIONS: Most studies showed a significant relation between psychiatry and ophthalmology, such as eye symptoms and diseases following long-term use of psychotropics as well as psychiatric symptoms and syndromes in patients with eye disorders. Our review may be beneficial to psychiatrists, ophthalmologists, and, last but not least, the patients themselves.


Assuntos
Oftalmopatias/diagnóstico , Oftalmologia , Psiquiatria , Transtornos Psicóticos/diagnóstico , Oftalmopatias/terapia , Humanos , Exame Neurológico , Testes Neuropsicológicos , Psicofarmacologia , Transtornos Psicóticos/terapia
7.
Psychiatr Danub ; 31(1): 62-68, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30948691

RESUMO

BACKGROUND: The aim of our retrospective naturalistic observational study was to describe the use of maintenance electroconvulsive therapy (M-ECT) in chronic pharmacoresistant schizophrenia. SUBJECTS AND METHODS: We delineated 19 cases of chronic pharmacoresistant schizophrenia (females N=12) recently treated with maintenance electroconvulsive therapy at the Havlickuv Brod Psychiatric Hospital in the Czech Republic. Demographic, clinical and treatment variables were recorded. RESULTS: M-ECT, when applied weekly to monthly mostly over a period of several years, was of no benefit in the treatment of chronic hallucinations and/or delusions. However, it did prove beneficial (p<0.001) in removing chronic serious symptoms like suicidal or violent behavior, automutilation, refusal of food or liquids, stupor or catatonia. Even though almost all of our patients remained hospitalized, we were nonetheless able to transfer them to an unlocked psychiatric ward and let them out for walks or occupational therapy with almost no need for using restraint. No serious adverse side effects of M-ECT were found. CONCLUSIONS: Our study is limited by using only one simple standardized measurement (Clinical Global Impression - Severity) that was retrospective. Another limitation of our retrospective study was that the subjects had not been regularly tested for their cognitive functions. According to our results, M-ECT mitigates the impact of the disease and improves social functioning of the patients. M-ECT does not treat chronic schizophrenia but does make the lives of patients more tolerable. We suggest further research into M-ECT and its clinical application in chronic pharmacoresistant schizophrenia.


Assuntos
Eletroconvulsoterapia , Esquizofrenia , Catatonia , República Tcheca , Feminino , Humanos , Masculino , Estudos Retrospectivos , Esquizofrenia/terapia , Resultado do Tratamento
8.
Artigo em Inglês | MEDLINE | ID: mdl-29967563

RESUMO

The review is a summary of structural and functional changes in the human retina observed in patients with schizophrenia. The main focus is on the potential of these changes to serve as schizophrenia-specific biomarkers accessible to clinicians. We identified three features of the retina that can be detected non-invasively in humans and which appear to show charateristic changes in schizophrenia: (1) retinal microvasculature displaying abnormally wide venules; (2) electroretinograms indicating altered function of photoreceptors or other cells in the retinal component of the visual pathway; (3) optical coherence tomography pointing to structural differences between the retinae of patients with schizophrenia and those of healthy volunteers. We propose that the most feasible approach to evaluating the data would be to study the genetic and epigenetic background of the schizophrenia-associated retinal abnormalities and establish their significance and specificity as potential biomarkers for the disease. The studies should include longitudinal observations focusing on the possible involvement of medication and comorbid conditions in the mechanism of the disease; a comparison of schizophrenia with other mental disorders; and investigating retinal abnormalities in animal models of psychoses. Biomarkers identified in the process could represent an important addition to the arsenal of non-invasive techniques available to both clinicians and researchers. These novel biomarkers could facilitate research of the biological basis of psychosis and help to address the diagnostic, predicitive, preventative, prophylactic and therapeutic aspects of schizophrenia.


Assuntos
Doenças Retinianas/complicações , Esquizofrenia/diagnóstico , Adulto , Eletrorretinografia , Feminino , Humanos , Masculino , Microvasos/diagnóstico por imagem , Prognóstico , Vasos Retinianos/diagnóstico por imagem , Tomografia de Coerência Óptica
9.
Psychiatry Res Neuroimaging ; 263: 70-75, 2017 May 30.
Artigo em Inglês | MEDLINE | ID: mdl-28366872

RESUMO

Early diagnosis of anxiety and depression may be facilitated by the use of neurobiological markers. In depression and panic disorder, transcranial sonography (TCS) has revealed decreased echogenicity of the brainstem raphe (BR). The aim of the present study was to detect whether decreased echogenicity of the BR correlates with personality features described in the five-dimension model, especially neuroticism. We examined 100 healthy volunteers using quantitative and qualitative TCS, the five-dimension revised NEO Personality Inventory, Beck´s scales of anxiety and depression, and the Social Re-adjustment Rating Scale (SRRS). Visual BR anechogenicity was found in 11 subjects, BR hypoechogenicity in 29 subjects, and normal BR echogenicity in 60 subjects. The visual assessment correlated with the digital assessment. Comparing the groups with visual BR anechogenicity and BR normoechogenicity, only increased SRRS score and increased agreeableness z-score were significant. Our hypothesis that BR hypoechogenicity reflects an inclination for depression and anxiety characterized by the personality dimension neuroticism was not supported. However, this disposition may be present in a different state, such as stress.


Assuntos
Transtornos de Ansiedade/diagnóstico por imagem , Transtorno Depressivo/diagnóstico por imagem , Personalidade/fisiologia , Núcleos da Rafe/diagnóstico por imagem , Núcleos da Rafe/fisiologia , Ultrassonografia Doppler Transcraniana/métodos , Adolescente , Adulto , Transtornos de Ansiedade/fisiopatologia , Transtornos de Ansiedade/psicologia , Tronco Encefálico/diagnóstico por imagem , Tronco Encefálico/fisiologia , Transtorno Depressivo/fisiopatologia , Transtorno Depressivo/psicologia , Feminino , Humanos , Masculino , Transtornos da Personalidade/diagnóstico por imagem , Transtornos da Personalidade/fisiopatologia , Transtornos da Personalidade/psicologia , Inventário de Personalidade , Adulto Jovem
10.
Ann. hepatol ; 16(1): 140-148, Jan.-Feb. 2017. graf
Artigo em Inglês | LILACS | ID: biblio-838096

RESUMO

Abstract: Introduction and aim. Hepatic encephalopathy (HE) is a common complication of transjugular intrahepatic portosystemic shunting (TIPS). It is associated with a reduced quality of life and poor prognosis. The aim of this study was to compare two groups of patients who did and did not develop overt HE after TIPS. We looked for differences between these groups before TIPS. Material and methods. A study of 895 patients was conducted based on a retrospective analysis of clinical data. Data was analyzed using Fisher’s exact test, χ2, Mann Whitney test, unpaired t-test and logistic regression. After the initial analyses, we have looked at a regression models for the factors associated with development of HE after TIPS. Results. 257 (37.9%) patients developed HE after TIPS. Patients’ age, pre-TIPS portal venous pressure, serum creatinine, aspartate transaminase, albumin, presence of diabetes mellitus and etiology of portal hypertension were statistically significantly associated with the occurrence of HE after TIPS (p < 0.01). However, only the age, pre-TIPS portal venous pressure, serum creatinine, presence of diabetes mellitus and etiology of portal hypertension contributed to the regression model. Patients age, serum creatinine, presence of diabetes mellitus and portal vein pressure formed the model describing development of HE after TIPS for a subgroup of patients with refractory ascites. Conclusion. We have identified, using a substantial sample, several factors associated with the development of HE after TIPS. This could be helpful in further research.


Assuntos
Humanos , Adolescente , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Encefalopatia Hepática/etiologia , Derivação Portossistêmica Transjugular Intra-Hepática/efeitos adversos , Hipertensão Portal/cirurgia , Fatores de Tempo , Pressão Venosa , Biomarcadores/sangue , Distribuição de Qui-Quadrado , Modelos Logísticos , Encefalopatia Hepática/diagnóstico , Estudos Retrospectivos , Fatores de Risco , Fatores Etários , Resultado do Tratamento , República Tcheca , Creatinina/sangue , Complicações do Diabetes/etiologia , Hipertensão Portal/diagnóstico , Hipertensão Portal/etiologia , Hipertensão Portal/fisiopatologia
11.
Ann Hepatol ; 16(1): 140-148, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28051803

RESUMO

Introduction and Aim: Hepatic encephalopathy (HE) is a common complication of transjugular intrahepatic portosystemic shunting (TIPS). It is associated with a reduced quality of life and poor prognosis. The aim of this study was to compare two groups of patients who did and did not develop overt HE after TIPS. We looked for differences between these groups before TIPS. MATERIALS AND METHODS: A study of 895 patients was conducted based on a retrospective analysis of clinical data. Data was analyzed using Fisher's exact test, Chi-square, Mann Whitney test, unpaired t-test and logistic regression. After the initial analyses, we have looked at a regression models for the factors associated with development of HE after TIPS. RESULTS: 257 (37.9%) patients developed HE after TIPS. Patients' age, pre-TIPS portal venous pressure, serum creatinine, aspartate transaminase, albumin, presence of diabetes mellitus and etiology of portal hypertension were statistically significantly associated with the occurrence of HE after TIPS (p < 0.01). However, only the age, pre-TIPS portal venous pressure, serum creatinine, presence of diabetes mellitus and etiology of portal hypertension contributed to the regression model. Patients age, serum creatinine, presence of diabetes mellitus and portal vein pressure formed the model describing development of HE after TIPS for a subgroup of patients with refractory ascites. CONCLUSION: we have identified, using a substantial sample, several factors associated with the development of HE after TIPS. This could be helpful in further research.


Assuntos
Encefalopatia Hepática/etiologia , Hipertensão Portal/cirurgia , Derivação Portossistêmica Transjugular Intra-Hepática/efeitos adversos , Adolescente , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Biomarcadores/sangue , Distribuição de Qui-Quadrado , Creatinina/sangue , República Tcheca , Complicações do Diabetes/etiologia , Feminino , Encefalopatia Hepática/diagnóstico , Humanos , Hipertensão Portal/diagnóstico , Hipertensão Portal/etiologia , Hipertensão Portal/fisiopatologia , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Risco , Fatores de Tempo , Resultado do Tratamento , Pressão Venosa , Adulto Jovem
12.
World J Biol Psychiatry ; 18(7): 492-505, 2017 10.
Artigo em Inglês | MEDLINE | ID: mdl-28112043

RESUMO

OBJECTIVES: Schizophrenia is a severe psychiatric disease affecting about 1% of the general population. The relative contribution of genetic factors has been estimated to be up to 80%. The mode of inheritance is complex, non-Mendelian, and in most cases involving the combined action of large numbers of genes. METHODS: This review summarises recent efforts to identify genetic variants associated with schizophrenia detected, e.g., through genome-wide association studies, studies on copy-number variants or next-generation sequencing. RESULTS: A large, new body of evidence on genetics of schizophrenia has accumulated over recent years. Many new robustly associated genetic loci have been detected. Furthermore, there is consensus that at least a dozen microdeletions and microduplications contribute to the disease. Genetic overlap between schizophrenia, other psychiatric disorders, and neurodevelopmental syndromes raised new questions regarding the current classification of psychiatric and neurodevelopmental diseases. CONCLUSIONS: Future studies will address especially the functional characterisation of genetic variants. This will hopefully open the doors to our understanding of the pathophysiology of schizophrenia and other related diseases. Complementary, integrated systems biology approaches to genomics, transcriptomics, proteomics and metabolomics may also play crucial roles in enabling a precision medicine approach to the treatment of individual patients.


Assuntos
Consenso , Esquizofrenia/genética , Humanos
13.
World J Biol Psychiatry ; 18(1): 5-28, 2017 02.
Artigo em Inglês | MEDLINE | ID: mdl-27603714

RESUMO

Major depressive disorder (MDD) is a heritable disease with a heavy personal and socio-economic burden. Antidepressants of different classes are prescribed to treat MDD, but reliable and reproducible markers of efficacy are not available for clinical use. Further complicating treatment, the diagnosis of MDD is not guided by objective criteria, resulting in the risk of under- or overtreatment. A number of markers of MDD and antidepressant response have been investigated at the genetic, epigenetic, gene expression and protein levels. Polymorphisms in genes involved in antidepressant metabolism (cytochrome P450 isoenzymes), antidepressant transport (ABCB1), glucocorticoid signalling (FKBP5) and serotonin neurotransmission (SLC6A4 and HTR2A) were among those included in the first pharmacogenetic assays that have been tested for clinical applicability. The results of these investigations were encouraging when examining patient-outcome improvement. Furthermore, a nine-serum biomarker panel (including BDNF, cortisol and soluble TNF-α receptor type II) showed good sensitivity and specificity in differentiating between MDD and healthy controls. These first diagnostic and response-predictive tests for MDD provided a source of optimism for future clinical applications. However, such findings should be considered very carefully because their benefit/cost ratio and clinical indications were not clearly demonstrated. Future tests may include combinations of different types of biomarkers and be specific for MDD subtypes or pathological dimensions.


Assuntos
Antidepressivos/uso terapêutico , Transtorno Depressivo Maior/tratamento farmacológico , Transtorno Depressivo Maior/genética , Epigênese Genética , Marcadores Genéticos , Consenso , Humanos , Plasticidade Neuronal , Ensaios Clínicos Controlados Aleatórios como Assunto , Transcriptoma
14.
Neuro Endocrinol Lett ; 37(1): 1-8, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26994378

RESUMO

Schizophrenia is a severe mental disorder that affects approximately one percent of the general population. The pathogenesis of schizophrenia is influenced by many risk factors, both environmental and genetic. The environmental factors include the date of birth, place of birth and seasonal effects, infectious diseases, complications during pregnancy and delivery, substance abuse and stress. At the present time, in addition to environmental factors, genetic factors are assumed to play a role in the development of the schizophrenia. The heritability of schizo- phrenia is up to 80%. If one parent suffers from the condition, the probability that it will be passed down to the offspring is 13%. If it is present in both parents, the risk is more than 20%. The opinions are varied as to the risk factors affecting the development of schizophrenia. Knowing these factors may greatly contribute to prevention of the condition.


Assuntos
Esquizofrenia/epidemiologia , Esquizofrenia/etiologia , Meio Ambiente , Feminino , Predisposição Genética para Doença , Humanos , Recém-Nascido , Parto/fisiologia , Gravidez , Prevalência , Fatores de Risco , Transtornos Relacionados ao Uso de Substâncias/complicações , Transtornos Relacionados ao Uso de Substâncias/epidemiologia
15.
Acta Medica (Hradec Kralove) ; 58(3): 104-7, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26686951

RESUMO

OBJECTIVES: The main aim of the study was to investigate the physiological and social needs of patients hospitalized with schizophrenia to uncover potential issues in these areas. METHODS: The relevant self-evaluating CANSAS questionnaire for physiological and social needs was used by nurses in a cohort of hospitalized schizophrenic patients undergoing rehabilitation before discharge from the mental hospital. RESULTS: Two hundred and forty-four patients (women N = 115) aged 18-58 years were involved in the study. Intimate relations, financial matters, treatment of psychotic symptoms, and sexual life were among the most pressing physiological and social needs in our study subjects. CONCLUSION: The results of our study should stimulate psychiatric nurses in their effort not only to detect but also address the problems of schizophrenic patients concerning unfulfilled needs.


Assuntos
Hospitalização/estatística & dados numéricos , Esquizofrenia/epidemiologia , Adolescente , Adulto , República Tcheca , Humanos , Pessoa de Meia-Idade , Avaliação das Necessidades , Esquizofrenia/diagnóstico , Esquizofrenia/terapia , Fatores Socioeconômicos , Adulto Jovem
16.
Psychiatr Danub ; 27(3): 225-9, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26400129

RESUMO

BACKGROUND: A new method of assessment of microvascular abnormality in living schizophrenic subjects via retinal imaging was described by Meier et al. (2013). The principal aim of this review is to summarise the relevant knowledge and suggest further avenues of research into this topic. SUBJECT AND METHODS: On 20th April 2015, we carried out a search using the computer database system PubMed by using keywords "microvascular AND schizophrenia". RESULTS: Out of the 17 articles found, only seven were relevant. They are generally consistent with the hypothesis of microvascular pathology and brain inflammation as part of the pathogenesis in schizophrenia. It is important to stress that all studies of brain microvasculature in schizophrenia to date have been post mortem findings, apart from the work by Meier et al. (2013) which is related to retinal imaging in living subjects. CONCLUSIONS: Based on the literature, we suggest the following research and clinical avenues: Firstly, to assess whether microvascular abnormality found via retinal imaging, fulfils the criteria for the schizophrenia endophenotype. Secondly, to examine retinal imaging in high-risk individuals for schizophrenia. Thirdly, to determine whether the fMRI findings and cognitive abilities of schizophrenia patients in both longitudinal as well as cross-sectional studies, is associated with the microvascular abnormalities assessed by the retinal imaging. Fourthly, to determine if there is a correlation between microvascular retinal pathology and the positive or negative schizophrenia symptoms. Furthermore, to determine if childhood maltreatment results in any abnormities in retinal imaging. Lastly, to analyse the genetic background of schizophrenia retinal microvascular pathology and to apply anti-inflammatory agents in the treatment and prevention of schizophrenia if brain vasculitis is confirmed.


Assuntos
Encéfalo/patologia , Endofenótipos/química , Esquizofrenia/diagnóstico , Estudos Transversais , Humanos , Imageamento por Ressonância Magnética
17.
Cent Eur J Public Health ; 23(4): 365-7, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26841152

RESUMO

Mild Cognitive Impairment (MCI) may be a precursor of Alzheimer's disease (AD). There is a boundary area between normal aging and dementia. In practice, the term "age related cognitive decline" has been used interchangeably with "normal aging". Alternatively, the term "aging associated cognitive decline" was introduced and defined by a performance on a standardized cognitive scale focused on learning and memory, attention and cognitive speed, language, or visuoconstructional abilities. The term "mild cognitive impairment" was adopted by Petersen in 2004 to describe a period in the course of neurodegenerative disease where cognition is no longer normal relative to age expectations, however, daily functions are not sufficiently disrupted to correlate with the diagnosis of dementia. Most of the literature refers to the amnestic form of MCI, which is likely a precursor of AD. The rate of conversion from amnestic form of MCI to AD is estimated to reach 10-15% per year. That is why MCI generated a great deal of research. When considering MCI a precursor of AD, it seems reasonable to study AD genetic markers in the MCI patients. In AD, association studies focus on genetic polymorphisms assumed to have an effect on the expression and modulation function of genes associated with AD pathogenesis (ApoE, APP, presenilin 1, presenilin 2, tau protein), and on polymorphisms related to metabolism of the aforementioned proteins (splicing, degradation). Neuropsychological assesment plays a substantial role in the diagnosis of MCI, especially in the case of identification of different MCI subtypes or typical profiles of cognitive performance in prodromal phases of neurodegenerative diseases. The optimal composition of diet may increase an average age and prevent impairment of cognitive functions at the same time. Despite the progress in early diagnosis of MCI and dementia, further research is needed on differential diagnosis and treatment. In amnestic subtype of MCI some genetic markers may already be present, predicting possible future development of AD. Pointing to the need of secondary prevention, lifestyle modifications and possible early treatment could be implemented.


Assuntos
Doença de Alzheimer/etiologia , Disfunção Cognitiva/complicações , Humanos , Testes Neuropsicológicos
18.
Neuro Endocrinol Lett ; 36(7): 631-7, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26859583

RESUMO

The etiology of schizophrenia is complex. The aim of this article is to present a global view of the causes of schizophrenia and their interconnectivity. Recent genetic research into schizophrenia is based on genome-wide association studies, the assessment of DNA copy number variations, and the concept of endophenotypes. A lot of suspected genes have already been identified, mostly relating to neurodevelopment, neuroplasticity, immunology and neuroendocrinology. Gene-environment interactions (G×E) reflect genetic variation in susceptibility to the environment. Psychosocial stress and cannabis abuse seem to be the most important environmental factors in schizophrenia etiology. Epigenetic mechanisms, particularly DNA methylation, histone modifications, and non-coding RNAs are the most important linking factor among the genetic and prenatal environmental variables in the etiology of schizophrenia. Postnatal risk factors (e.g., stress, urbanicity, cannabis use) may also affect the risk of schizophrenia via the potentiation of vulnerable brain pathways. Many questionable issues pertaining to G×E assessment of schizophrenia still persist and relate to the exact assessment of environmental agents as well as psychopathology. In future research concerning G×E in schizophrenia, the study samples should be adequately large, schizophrenia endophenotypes should be involved, prospective studies should be supported, environmental causative factors as well as psychopathology should be assessed in a quantitative way, the multiple interactions among the variety of environmental and genetic variables should be evaluated, and epigenetic factors should not be neglected. The EU-GEI project of the European Network of National Schizophrenia Networks Studying Gene-Environment Interactions (2010-2015) may become a milestone in the schizophrenia G×E research.

19.
World J Psychiatry ; 3(3): 57-61, 2013 Sep 22.
Artigo em Inglês | MEDLINE | ID: mdl-24255876

RESUMO

New findings in schizophrenia genetics are based on genome-wide association studies (GWAS), research into DNA copy number variations (CNVs), and endophenotypes. More than 70 genes have recently been suspected to be involved in the genetic background of schizophrenia based on the GWAS´s results. They are typically related to neurodevelopment/neuroplasticity, immunology and neuroendocrinology. Nevertheless, for many detected genes their possible relationship to schizophrenia etiopathogenesis is still unknown. The CNVs at genome loci 1q21.1 (candidate gene e.g., PRKAB2), 2p16.3 (candidate gene e.g., NRXN1), 3q29 (candidate genes e.g., BDH1, DLG1, PAK2 or TFRC), 15q11.2 (candidate gene e.g., CYFIP1), 15q13.3 (candidate gene e.g., CHRNA7), 16p13.1 (candidate genes e.g.,NTAN1 or NDE1) and 22q11.2 (candidate genes e.g., COMT, GSTT2 or PRODH) were associated with schizophrenia most frequently. Genetic research of schizophrenia endophenotypes, usually neurophysiological, neuromotoric, neurocognitive, neuroanatomical, neurological or personality-related, will help us to discover the role of relevant genes in the pathogenesis of schizophrenia. It is also necessary to integrate knowledge from other research platforms in schizophrenia, like epigenetics, studies of gene-environment interactions, transcriptomics, proteomics, metabolomics, neuroimaging and psychopathology. A better knowledge of the genetic background of schizophrenia can lead to changes in the treatment, prevention and genetic counselling. It may also reduce stigma in this severe mental disorder.

20.
Psychiatr Danub ; 25(2): 142-8, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-23793278

RESUMO

BACKGROUND: The primary goal of the present study was to replicate our previous finding of increased coagulation and thrombocytes activity in drug-naïve psychotic patients in comparison with healthy controls and ascertain whether the blood levels of thrombogenesis markers further increase over the course of a consecutive one-year antipsychotic treatment. SUBJECTS AND METHODS: We investigated the plasma levels of markers indicating activation of coagulation (D-dimers and Factor VIII) and platelets (soluble P-selectin, sP-selectin) in an antipsychotic-naive group of nineteen men and seventeen women with acute psychosis (age 28.1±8.0 years, body mass index 22.6±4.2), and thirty-seven healthy volunteers matched for age, gender and body mass index. In the patient group, we repeated these assessments after three months and again after one year of antipsychotic treatment. RESULTS: D-dimers (median 0.38 versus 0.19 mg/l; p=0.00008), factor VIII (median 141.5% versus 110%; p=0.02) and sP-selectin (median 183.6 versus 112.4 ng/ml; p=0.00005) plasma levels were significantly increased in the group of patients with acute psychosis prior to treatment compared with healthy volunteers. The plasma levels of sP-selectin varied significantly (p=0.016) in the course of the one-year antipsychotic treatment, mainly between 3 and 6 months after start of therapy. The plasma levels of D-dimers and factor VIII did not change significantly, D-dimers remained elevated in contrast to the healthy controls. CONCLUSIONS: Patients with acute psychosis had increased levels of markers of thrombogenesis in comparison to the healthy volunteers. The haemostatic parameters also remained elevated during the one-year antipsychotic treatment.


Assuntos
Transtornos Psicóticos/sangue , Doença Aguda , Adulto , Biomarcadores/sangue , Coagulação Sanguínea/fisiologia , Plaquetas/citologia , Feminino , Humanos , Masculino , Selectina-P/sangue , Estudos Prospectivos , Escalas de Graduação Psiquiátrica , Fatores de Tempo , Adulto Jovem
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