Widened retinal arteriolar and venular diameters are not an endophenotype of schizophrenia: A one-time cross-sectional study.

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.

Needs of Hospitalized Schizophrenic Patients in the North Moravia and the Czech Part of Silesia.

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.

Quality of life and needs of hospitalized schizophrenic patients in the Czech Republic.

OBJECTIVES: The main aim of the study was to investigate the quality of life and the medicinal and social needs of patients hospitalized with schizophrenia in the Czech Republic to uncover potential issues in these areas. METHODS: Relevant self-evaluating questionnaires (SQUALA for quality of life; CANSAS for medicinal and social needs) were used 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. The quality of life of hospitalized patients with schizophrenia was subjectively assessed as universally worse in comparison with the general Czech population (p<0.05 in most cases; two-sample Student's t-test), but patients were not wholly critical of their own health status and overestimated its quality (arithmetic mean 63.79 in the patients vs the range of 45.5-59.8 as the norm in the general Czech population). Intimate relations, financial matters, treatment of psychotic symptoms, and sexual life were among the most pressing medicinal 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 quality of life and unfulfilled needs. This can be done via education, guidance towards a healthy lifestyle, or providing patients with adequate exercise. Overall this issue is of significant importance in the Czech Republic due to the fact that legislative reform of mental health care emphasizing community care and psychiatric nursing has just been implemented.

The complex etiology of schizophrenia - general state of the art.

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.

Genome-wide association studies in schizophrenia, and potential etiological and functional implications of their results.

BACKGROUND: Despite the fact that the genetic basis of schizophrenia has been intensively studied for more than two decades, our contemporary knowledge in this field is rather fractional, and a substantial part of it is still missing. The aim of this review article is to sum up the data coming from genome-wide association genetic studies in schizophrenia, and indicate prospective directions of further scientific endeavour. METHODS: We searched the National Human Genome Research Institute's Catalog of genome-wide association studies for schizophrenia to identify all papers related to this topic. In consequence, we looked up the possible relevancy of these findings for etiology and pathogenesis of schizophrenia using the computer gene and PubMed databases. RESULTS: Eighteen genome-wide association studies in schizophrenia have been published till now, referring to fifty-seven genes supposedly involved into schizophrenia's etiopathogenesis. Most of these genes are related to neurodevelopment, neuroendocrinology, and immunology. CONCLUSIONS: It is reasonable to predict that complex studies of sufficiently large samples, involving detection of copy number variants and assessment of endophenotypes, will produce definitive discoveries of genetic risk factors for schizophrenia in the future.

Genomic copy number variations: A breakthrough in our knowledge on schizophrenia etiology?

OBJECTIVES: The term "copy number variation/variant" (CNV) denotes a DNA sequence with a magnitude of 1 kb at least which is differently represented among individuals based on its deletion or duplication. Since 2008, multiple studies have reported copy number variations in schizophrenia, and they seem to fill in a gap in our knowledge on the genetic background of schizophrenia. The aim of this review is to sum up the current findings related to CNVs in schizophrenia in order to facilitate further research. METHODS: We searched the PubMed computer database using the key words "schizophrenia AND CNVs" on 26th October 2011. Out of 91 obtained results, we selected the references based on their relevance. RESULTS: The CNVs at genome loci 1q21.1, 2p16.3, 3q29, 15q11.2, 15q13.3, 16p13.1 and 22q11.2 were associated with schizophrenia most frequently. The data provide evidence for low prevalent, but highly penetrant CNVs associated with schizophrenia. CNV deletions show higher penetrance than duplications. Larger CNVs often have higher penetrance than smaller CNVs. Although the vast majority of CNVs are inherited, CNVs that have newly occurred as de novo mutations have more readily been implicated in schizophrenia. De novo CNVs may be responsible for the presence of schizophrenia in only one of the two monozygotic twins, who otherwise have identical genomes. CONCLUSION: Identifying CNVs in schizophrenia can lead to changes in the treatment and genetic counselling. Our knowledge on the genetic background of neurodevelopmental disorders may also reduce stigma in schizophrenia.