• MeSH
• Endophenotypes MeSH
• Cognitive Dysfunction etiology   physiopathology   pathology   MeSH
• Humans MeSH
• Psychosocial Intervention methods   MeSH
• Schizophrenia * diagnosis   physiopathology   pathology   therapy   MeSH
• Check Tag
• Humans MeSH
• Publication type
• Review MeSH

• Keywords
• dupilumab, studie Voyage,
• MeSH
• Asthma * diagnosis   drug therapy   prevention & control   MeSH
• Child MeSH
• Endophenotypes chemistry   MeSH
• Eosinophils drug effects   MeSH
• Glucocorticoids adverse effects   therapeutic use   MeSH
• Antibodies, Monoclonal, Humanized adverse effects   therapeutic use   MeSH
• Clinical Trials, Phase III as Topic MeSH
• Humans MeSH
• Randomized Controlled Trials as Topic MeSH
• Receptors, Interleukin-4 drug effects   MeSH
• Th2 Cells chemistry   MeSH
• Check Tag
• Child MeSH
• Humans MeSH

Schizotypia predstavuje teoretický konštrukt reprezentujúci náchylnosť k rozvoju porúch z okruhu schizofrenického spektra. Všeobecne je definovaná ako stabilná multidimenzionálna štruktúra osobnosti. Ako teoretický rámec umožňuje koncepčne uchopiť výraznú heterogenitu fenotypických prejavov porúch schizofrenického spektra. Cieľom článku je opísať koncept schizotypie a priblížiť jeho štruktúru a fenomenologické prejavy. Autori sa zamerali na porovnanie troch najvýznamnejších taxonometrických a dimenzionálnych modelov schizotypie. Postupne predstavili Meehlov, Eysenckov a Claridgov model. V poslednej časti autori priblížili aktuálne možnosti merania tohto konštruktu v rámci psychopatologického výskumu.

Schizotypes is a theoretical construct representing a predisposition to the onset of schizophrenia spectrum disorders. It is defined as a stable multidimensional personality organization. As a theoretical framework, it allows conceptually grasping heterogeneity of phenotypic expression of schizophrenia spectrum disorders. The aim of this paper is to describe the concept of schizotypy and its phenomenological expression. The authors focused on a comparison of the three most prominent taxonometric and dimensional models. They reviewed Meehl’s, Eysenck’s, and Claridge’s models. In the last section, the authors reviewed the current self-report tools that can be used in the psychopathological research.

• Keywords
• schizotypie,
• MeSH
• Endophenotypes * analysis   MeSH
• Humans MeSH
• Disease Susceptibility MeSH
• Psychometrics MeSH
• Schizophrenia MeSH
• Schizotypal Personality Disorder MeSH
• Check Tag
• Humans MeSH
• Publication type
• Research Support, Non-U.S. Gov't MeSH
• Review MeSH

BACKGROUND: Bipolar disorder (BD) is a severe psychiatric disorder associated with structural and functional brain abnormalities, some of which have been found in unaffected relatives as well. In this study, we examined the potential role of decreased fractional anisotropy (FA) as a BD endophenotype, in adolescents at high risk for BD. METHODS: We included 15 offspring of patients with BD, 16 pediatric BD patients, and 16 matched controls. Diffusion weighted scans were obtained on a 3T scanner using an echo-planar sequence. Scans were segmented using FreeSurfer. RESULTS: Our results showed significantly decreased FA in six brain areas of offspring group; left superior temporal gyrus (LSTG; P < .0001), left transverse temporal gyrus (LTTG; P = .002), left banks of the superior temporal sulcus (LBSTS; P = .002), left anterior cingulum (LAC; P = .003), right temporal pole (RTP; P = .004) and left frontal pole (LFP; P = .017). On analysis, LSTG, LAC, and RTP demonstrated a potential to be an endophenotype when comparing all three groups. FA values in three regions, LBSTS, LTTG, and LFP were increased only in controls. CONCLUSION: Our findings point at decreased FA as a possible endophenotype for BD, as they were found in children of patients with BD. Most of these areas were previously found to have morphological and functional changes in adult and pediatric BD, and are thought to play important roles in affected domains of functioning. Prospective follow up studies should be performed to detect reliability of decreased FA as an endophenotype and effects of treatment on FA.

• MeSH
• Anisotropy MeSH
• Bipolar Disorder * diagnosis   MeSH
• Child MeSH
• Adult MeSH
• Endophenotypes MeSH
• Humans MeSH
• Adolescent MeSH
• Prospective Studies MeSH
• Reproducibility of Results MeSH
• Diffusion Tensor Imaging methods   MeSH
• Check Tag
• Child MeSH
• Adult MeSH
• Humans MeSH
• Adolescent MeSH
• Publication type
• Journal Article MeSH

AIM: Cognitive deficit in psychotic illness is intensively studied, different cognitive subtypes have been suggested. In recent years, there has been an increase in the number of studies in patients with schizophrenia and their relatives searching for endophenotypes of the disease. The aim of our study was to investigate cognitive performance and cognitive subtypes in the siblings of the patients. METHODS: Four groups of subjects were included: patients with a first episode of psychotic illness, the siblings of these patients, and two control groups. All the study subjects (N = 84) had a battery of neuropsychological tests that measured basic cognitive domains - memory, executive functions, attention, visual-spatial skills, language skills and psychomotor speed - administered to them. The data were assessed with pairwise t-tests for group comparisons. The siblings were distributed into three groups according to their cognitive performance: non-deficit, partial deficit, and global deficit. Subsequently, the patients were assigned into three groups corresponding to their siblings' performance. RESULTS: Our results revealed attenuation of abstract thinking in the siblings compared to the controls. As expected, the patients showed impairment across all cognitive domains. The patients and siblings demonstrated similar profiles in each subtype, in the severity of their impairment, and in their patterns of cognitive performance. CONCLUSIONS: Our results suggest that the cognitive profile can be considered as an endophenotype of psychotic disorders.

• MeSH
• Endophenotypes MeSH
• Cognition MeSH
• Humans MeSH
• Neuropsychological Tests MeSH
• Schizophrenia * diagnosis   MeSH
• Siblings MeSH
• Check Tag
• Humans MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH

Mikrovaskulární abnormality na sítnici oka budou vyšetřovány u 80 nemocných schizofrenií, jejich 80 zdravých příbuzných prvého stupně a 80 zdravých kontrolních jedinců. Kromě toho budou vyšetřovány polymorfismy genů, které mají vztah k angiogenezi a zánětu aby byl nalezen genetický podklad případné mikrovaskulární patologie. Zobrazování sítnice oka a hodnocení cévní patologie v psychiatrii je současným revolučním počinem Meiera a kol. (2013). Je to jediná metoda, jak hodnotit případné mikrovaskulární abnormality na sítnici oka u živých pacientů se schizofrenií, kdy tyto cévy jsou strukturálně a funkčně podobné cévám mozku. Zobrazování sítnice je relativně snadné, dostupné, neinvazivní, rychlé a levné. Předkládaný výzkumný projekt je pokusem zjistit, zda mikrovaskulární abnormality na sítnici oka splňují jedno z podstatných kritérií endofenotypu – nález má být významně častější u zdravých příbuzných pacientů než v celkové populaci. Projekt má inovativním způsobem přispět k našemu poznání etiopatogeneze schizofrenie.; Microvascular abnormality will be assessed in 80 schizophrenia patients, their 80 healthy first-degree relatives and 80 healthy controls by retinal imaging. In addition, polymorphisms of the genes relevant for angiogenesis and inflammation will be examined to find out the genetic background of possible microvascular pathology. Retinal imaging in schizophrenia is a recent and revolutionary step by Meier et al. (2013). This is the only method how to ascertain possible microvasculature abnormality in retinal vessels which are structurally and functionally homologous to the brain vessels in living patients with schizophrenia. Retinal imaging is relatively easy, available, non-invasive, quick and cheap. The proposed research project is the attempt to find out whether microvascular abnormality assessed by retinal imaging fulfils the important criterion for an endophenotype - it should be found significantly more frequently in the patients ́ healthy relatives than in the general population. The project should contribute to our knowledge on schizophrenia etiopathogenesis in an innovative w...

• MeSH
• Endophenotypes MeSH
• Genetic Testing MeSH
• Humans MeSH
• Microvessels pathology   MeSH
• Vascular Diseases diagnosis   complications   MeSH
• Retinal Diseases diagnosis   complications   MeSH
• Polymorphism, Genetic MeSH
• Schizophrenia genetics   MeSH
• Check Tag
• Humans MeSH

• Conspectus
• Patologie. Klinická medicína
• NML Fields
• psychiatrie
• angiologie
• genetika, lékařská genetika
• NML Publication type
• závěrečné zprávy o řešení grantu AZV MZ ČR

Diagnóza schizofrenie je založena na symptomech, které lze obecně popsat jako narušení prožívání self (jáství). Mezi tyto příznaky spadají například symptomy pasivity, jako v případě bludu kontroly a bludu odnímání myšlenek, či auditivní halucinace, tedy příznaky, v nichž pacienti nadmíru přisuzují vlastní aktivitu vnějšímu působiteli, a naopak. Souhrnně lze tyto projevy charakterizovat jako narušení hranice mezi vnitřním a vnějším, mezi já a ne-já. Dle současných přístupů se schizofrenie – stejně jako je tomu i u jiných duševních onemocnění – vyskytuje na škále, spíše než by se jednalo o dichotomickou kategorii, a mírnější varianty projevů této nemoci jsou přítomny také v běžné populaci. Působením genetických vlivů je pak možné je výrazněji sledovat u zdravých rodinných členů pacientů se schizofrenií. Článek analyzuje narušení prožívání self jakožto potenciální endofenotyp u schizofrenie, který se projevuje na kontinuu.

Diagnosis of schizophrenia has been traditionally linked to symptoms that can be described broadly as a disruption of the basic sense of self. These symptoms encompass, for example, symptoms of passivity as in the case of delusion of control, thought withdrawal, or auditory hallucinations, i.e. symptoms in which patients excessively over-attribute their own activity to some external forces. In general, these symptoms are characterized by the disturbance of the demarcation between self and others. Recent accounts underline the fact that, similarly to other traits or mental illnesses, symptoms of schizophrenia are present on a continuum. Thus, they can be found in the general population. Due to their genetic underpinnings, these traits are often more pronounced in unaffected relatives of schizophrenia patients. This review analyzes self-disturbances as a potential endophenotype of schizophrenia, which is expressed on a continuum.

• MeSH
• Ego MeSH
• Endophenotypes MeSH
• Humans MeSH
• Reality Testing MeSH
• Personality Disorders classification   MeSH
• Psychological Tests MeSH
• Schizophrenia diagnosis   physiopathology   MeSH
• Check Tag
• Humans MeSH
• Publication type
• Research Support, Non-U.S. Gov't MeSH
• Review MeSH

Endofenotypy jsou heritabilní znaky spojené s nemocí, nezávislé na stavu a sdílené nemocnými a zdravými příbuznými. Identifikace jedinců ohrožených vznikem psychózy může pomoci při včasné diagnostice a terapii, potenciálně i prevenci vzniku psychózy. V ČR dosud nejsou rizikové skupiny systematicky sledovány. V našich pracech s neléčenými pacienty s první epizodou schizofrenie jsme nalezli abnormity v sérových koncentracích neurosteroidů a jejich metabolitů (metabolomu). Poruchy metabolomu u zdravých příbuzných dosud nebyly studovány jako kandidátní endofenotyp. V projektu plánujeme sledovat soubor zdravých sourozenců pacientů s první epizodou psychózy. Porovnáním s pacienty a zdravou populací identifikujeme endofenotypy psychotického onemocnění, specificky budeme zkoumat metabolom, kognitivní funkce, neuroimunitní, morfologické a funkční abnormity (protilátky, MRI, spektroskopie, EEG). V prospektivním sledování souboru zdravých sourozenců budeme studovat míru konverze do psychózy.; Endophenotypes are heritable markers associated with illness, state-independent and shared among patients and their healthy relatives. To identify individuals at risk of psychosis may help in early diagnosis and treatment, and potentially contribute to prevention of psychotic disorders. So far, in the Czech Republic, at-risk population has not been systematically studied. We have previously found in drug-naive first-episode schizophrenia patients abnormal plasma levels of neurosteroids and their metabolites (metabolome). Metabolome abnormalities in healthy relatives of patients have not been yet investigated as a candidate endophenotype. In our research project, we propose to study a sample of healthy siblings of first-episode psychosis patients. Comparison with patients and healthy population, we may identify psychotic endophenotypes, specifically metabolome, cognitive functions, neuroimmune, structural, and functional abnormalities (antibodies, MRI, spectroscopy, EEG). In a prospective follow-up, we will study rate of conversion into psychosis.

• MeSH
• Early Diagnosis MeSH
• Endophenotypes MeSH
• Cognition MeSH
• Metabolome MeSH
• Neuroimaging MeSH
• Psychotic Disorders diagnosis   genetics   MeSH
• Risk Factors MeSH

• Conspectus
• Patologie. Klinická medicína
• NML Fields
• genetika, lékařská genetika
• psychiatrie
• NML Publication type
• závěrečné zprávy o řešení grantu AZV MZ ČR

• MeSH
• Biomarkers MeSH
• Genome-Wide Association Study MeSH
• Mental Disorders diagnostic imaging   genetics   physiopathology   pathology   MeSH
• Endophenotypes MeSH
• Humans MeSH
• Multicenter Studies as Topic MeSH
• Brain Diseases * diagnostic imaging   genetics   physiopathology   pathology   MeSH
• Check Tag
• Humans MeSH
• Publication type
• Newspaper Article MeSH

• MeSH
• Diagnostic Techniques, Neurological classification   MeSH
• Endophenotypes MeSH
• Cognitive Dysfunction classification   physiopathology   MeSH
• Humans MeSH
• Neuropsychological Tests MeSH
• Psychotherapy methods   MeSH
• Schizophrenia * diagnosis   etiology   genetics   classification   physiopathology   therapy   MeSH
• Check Tag
• Humans MeSH