Publications by authors named "Nikos Stefanis"

The tryptophan-metabolizing kynurenine pathway (KP) can be activated by enhanced inflammatory responses and has been implicated in the pathophysiology of schizophrenia. However, there is little evidence for KP dysregulation in the early course of psychotic illness. We aimed to investigate the potential immune-mediated hyperactivity of KP in individuals with first-episode psychosis (FEP) and the relationship with symptom severity and treatment response outcomes.

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Negative symptoms and cognitive deficits play a major role in psychosis and significantly influence the functional outcomes of patients, particularly those with a first episode of psychosis (FEP). However, limited research has explored the predictive capacity of cognitive deficits during FEP for subsequent negative symptomatology. Drawing from the Athens FEP research study, we conducted a retrospective longitudinal study in 80 individuals with FEP.

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Article Synopsis
  • Some people with schizophrenia and first-episode psychosis have low levels of vitamin D, but it's unclear if this is due to their illness or their lifestyle choices.
  • This study looked at how a genetic score related to vitamin D levels impacts the symptoms in people with first-episode psychosis.
  • The results showed that lower vitamin D may lead to less motivation and social interaction, suggesting that getting outside and being social could help improve symptoms for these individuals.
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Background: Some reports suggest that psychotic features may occur in the early stages of Parkinson's disease (PD), but sensitive tools have not been utilized.

Objective: The aim was to evaluate the presence of psychotic symptoms using detailed scales and to assess the association with clinical characteristics.

Methods: Healthy controls and patients within three years of PD onset were recruited.

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Multiple recent studies have indicated that adverse psycho-traumatic experiences are particularly significant, if not the most significant, among the environmental factors that participate in the aetiology of schizophrenic spectrum disorders. The prevalence of bullying in the adolescent population has increased dramatically compared to earlier reports. This may be related to the recent development of communication technology and the use of social media, which have expanded the means by which bullying can be practiced.

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Existing literature provides extended evidence of the close relationship between stress dysregulation, environmental insults, and psychosis onset. Early stress can sensitize genetically vulnerable individuals to future stress, modifying their risk for developing psychotic phenomena. Neurobiological substrate of the aberrant stress response to hypothalamic-pituitary-adrenal axis dysregulation, disrupted inflammation processes, oxidative stress increase, gut dysbiosis, and altered brain signaling, provides mechanistic links between environmental risk factors and the development of psychotic symptoms.

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Article Synopsis
  • The study looked at how patients with early Parkinson's disease (PD) tend to jump to conclusions and how that relates to other symptoms they might have.
  • It found that more PD patients (32%) showed this jumping to conclusions compared to healthy individuals (9%).
  • The researchers think that impulsive behaviors might be linked to the way these patients think, but they need to do more research to understand how everything connects.
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Introduction: Clinical insight constitutes a useful marker of the progress and outcome of the First Episode of Psychosis (FEP), and lack of insight has been associated with more severe psychopathology, treatment non-adherence, and rehospitalization/relapse. In this study, we aimed to further investigate the possible role of insight as a predictor of relapse, its relation to diagnosis, and other parameters of positive psychotic symptomatology (delusions, hallucinations, and suspiciousness).

Methods: The Athens FEP study employed a prospective, longitudinal cohort design in which consecutive newly diagnosed patients with psychosis were interviewed and asked to voluntarily participate after completing informed consent.

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Background: Schizophrenia is a severe psychiatric disorder with periods of remission and relapse. As discontinuation of antipsychotic medication is the most important reason for relapse, long-term maintenance treatment is key. Whether intramuscular long-acting (depot) antipsychotics are more efficacious than oral medication in preventing medication discontinuation is still unresolved.

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The polygenic nature of schizophrenia (SCZ) implicates many variants in disease development. Rare variants of high penetrance have been shown to contribute to the disease prevalence. Whole-exome sequencing of a large three-generation family with SCZ and bipolar disorder identified a single segregating novel, rare, non-synonymous variant in the gene CASKIN1.

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Exposure to traumatic life events is one of the most robust predictors for psychosis. The Childhood Trauma Questionnaire-Short Form (CTQ-SF), a version of Childhood Experience of Care and Abuse (CECAEUGEI) and a version of the Bullying Questionnaire (BQEUGEI) refer to early life adversities, traumatic episodes and bullying. Those scales belong to a battery of psychometric tools detecting environmental and genetic factors associated with First Episode Psychosis (FEP) that was employed in the Athens-FEP study.

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First Episode Psychosis (FEP) emergence and clinical outcome might be attributed to various parameters, wherein gene - environment interaction plays a pivotal role in. Four specified psychometric tools, that have been used for the evaluation of possible environmental, social and psychological parameters involved in the etiopathology and clinical course of psychosis are the following: Social Environment Assessment Tool (SEAT), Discrimination (DISC), Brief Core-Schema Scales (BCSS) and Life-Threatening Events-Brief Life-Events Questionnaire (LTE-Q). These tools were used in the Athens-FEP Study assessment schedule, which investigates the gene-environment interaction among patients presenting with FEP.

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Background/aim: Alcohol use disorder (AUD) is a chronic, multifactorial psychiatric condition with an enormous impact on public health and social cost. Genetic studies suggest a heritability, and genome-wide association studies (GWAS) have revealed genetic polymorphisms influencing AUD development. Our study aimed to investigate known variants located in ADH1B, DRD2, FAAH, SLC39A8, GCKR, and PDYN genes (rs1229984, rs7121986, rs324420, rs13107325, rs1260326, rs2281285 respectively) in an AUD Greek cohort in order to shed more light on the genetic predisposition to AUD.

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Background: Early Intervention Services (EIS) aim to reduce relapse rates and achieve better treatment and functional outcomes for first episode psychosis (FEP) patients. Existing models of services in Greece are still treatment as usual (TAU), however a reform of mental health services is underway and initial steps have been taken to shift standard care towards EIS. The purpose of the study is to address therapeutic gaps by exploring service engagement and relapse rates in the current standard care model for psychosis.

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The Tobacco and Alcohol Questionnaire (TAQ) and the Cannabis Experience Questionnaire (CEQ) are two instruments employed in the evaluation of substance use. The First Episode Psychosis (FEP) study in Athens employed two versions of those questionnaires, as part of a battery of psychometric tools, detecting environmental and genetic factors associated with FEP and addressed specifically to the distinctive characteristics of patients with FEP. The goal of the present study is to present those two versions, regarding their content, their use in international research, their translation in Greek, and their test-retest reliability.

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Up-regulation of the complement component 4A (C4A) in the brain has been associated with excessive synaptic pruning and increased schizophrenia (SZ) susceptibility. Over-expression of C4A has been observed in SZ postmortem brain tissue, and the gene encoding for a protein inhibitor of C4A activity, CUB and Sushi multiple domains 1 (CSMD1) gene, has been implicated in SZ risk and cognitive ability. Herein, we examined C4A and CSMD1 mRNA expression in peripheral blood from antipsychotic-naive individuals with first-episode psychosis (FEP; n = 73) and mentally healthy volunteers (n = 48).

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Purpose: We examined whether patient-rated or clinician-rated needs are more strongly associated with perceived psychosocial disability (PPD) and subjective quality of life (SQOL) of schizophrenia patients, beyond symptom severity.

Methods: Hierarchical regression analyses were computed to test patient and clinician-rated unmet and met needs (estimated by eighty-two patient-clinician pairs) as predictors of PPD and SQOL above and beyond demographics and psychopathology. Needs, symptomatology, PPD and SQOL were estimated using Camberwell Assessment of Need (CAN), PANSS, WHODAS 2.

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It is suggested that Jumping To Conclusions (JTC) reasoning bias might contribute to the distortion of external reality. However, the association between psychotic manifestations and JTC is obscure, especially if general intelligence is considered as a mediator. The aim of this study is to investigate the relation between severity, early clinical improvement and remission of symptoms in First Episode Psychosis (FEP) with JTC as an explanatory factor.

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Background: Evidence suggests that environmental factors not only increase psychosis liability but also influence the prognosis and outcomes of psychotic disorders. We investigated temporal and cross-sectional associations of a weighted score of cumulative environmental liability for schizophrenia - the exposome score for schizophrenia (ES-SCZ) - with functioning in first-episode psychosis (FEP).

Methods: Data were derived from the baseline and 1-month assessments of the Athens FEP Research Study that enrolled 225 individuals with FEP.

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Background: Validated clinical prediction models of short-term remission in psychosis are lacking. Our aim was to develop a clinical prediction model aimed at predicting 4-6-week remission following a first episode of psychosis.

Method: Baseline clinical data from the Athens First Episode Research Study was used to develop a Support Vector Machine prediction model of 4-week symptom remission in first-episode psychosis patients using repeated nested cross-validation.

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Broad-based cognitive deficits are an enduring and disabling symptom for many patients with severe mental illness, and these impairments are inadequately addressed by current medications. While novel drug targets for schizophrenia and depression have emerged from recent large-scale genome-wide association studies (GWAS) of these psychiatric disorders, GWAS of general cognitive ability can suggest potential targets for nootropic drug repurposing. Here, we (1) meta-analyze results from two recent cognitive GWAS to further enhance power for locus discovery; (2) employ several complementary transcriptomic methods to identify genes in these loci that are credibly associated with cognition; and (3) further annotate the resulting genes using multiple chemoinformatic databases to identify "druggable" targets.

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Background: The prevalence and associated factors related to psychotic symptoms in older adults are understudied. The objectives were to assess the prevalence, incidence and factors associated with psychotic symptoms in a representative Greek sample of community living older adults.

Methods: The sample includes  = 1,904 residents of the cities of Larissa and Maroussi in Greece participating in the Hellenic Longitudinal Investigation of Aging and Diet study with available data at baseline and  = 947 individuals at the 3-year follow-up.

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The increasing proportion of variance in human complex traits explained by polygenic scores, along with progress in preimplantation genetic diagnosis, suggests the possibility of screening embryos for traits such as height or cognitive ability. However, the expected outcomes of embryo screening are unclear, which undermines discussion of associated ethical concerns. Here, we use theory, simulations, and real data to evaluate the potential gain of embryo screening, defined as the difference in trait value between the top-scoring embryo and the average embryo.

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