Research progress of transcriptomics and proteomics in schizophrenia / 中华预防医学杂志

Schizophrenia is a severe psychiatric disorder with an unclear etiology and various clinical manifestations. The diagnosis and consequent treatment of schizophrenia mainly rely on clinical symptoms. Multiple risk sites associated with schizophrenia have been identified, yet objective indicators have not been found to facilitate clinical diagnosis and treatment of schizophrenia. The development of omics technology provides different perspectives on the etiology of schizophrenia and make the early identification, diagnosis and treatment of the disorder possible. This article summarizes the prevalence of schizophrenia, reviews the research results and shortcomings of transcriptomics and proteomics, as well as the latest achievements and prospects of multi-omics, aiming to reveal the use of omics in SZ, provide more comprehensive biological evidence to reveal the complex pathogenesis of schizophrenia and provide a theoretical basis for the early identification, accurate diagnosis, disease progression control, and prognosis improvement of schizophrenia.

Research progress of transcriptomics and proteomics in schizophrenia / 中华预防医学杂志

Schizophrenia is a severe psychiatric disorder with an unclear etiology and various clinical manifestations. The diagnosis and consequent treatment of schizophrenia mainly rely on clinical symptoms. Multiple risk sites associated with schizophrenia have been identified, yet objective indicators have not been found to facilitate clinical diagnosis and treatment of schizophrenia. The development of omics technology provides different perspectives on the etiology of schizophrenia and make the early identification, diagnosis and treatment of the disorder possible. This article summarizes the prevalence of schizophrenia, reviews the research results and shortcomings of transcriptomics and proteomics, as well as the latest achievements and prospects of multi-omics, aiming to reveal the use of omics in SZ, provide more comprehensive biological evidence to reveal the complex pathogenesis of schizophrenia and provide a theoretical basis for the early identification, accurate diagnosis, disease progression control, and prognosis improvement of schizophrenia.

Research progress of cross-disease miRNA molecular markers in schizophrenia, bipolar disorder and depression / 中华医学遗传学杂志

Micro non-coding RNA (microRNA, miRNA) is a small non-coding RNA involved in gene expression regulation that plays an important role in the onset and development of mental illness. Evidence suggests that several miRNAs are dysregulated in patients with mental illnesses. Because of its stability and quantitative detection in peripheral blood and cerebral fluid, miRNA is a particularly attractive biomarker. The objective of this research is to investigate the relationship between mental illness and miRNAs, as well as the potential processes through which miRNAs contribute to disease etiology. Schizophrenia, bipolar disorder, and depression are three major mental disorders with high disability and mortality. The study explored the particular dysregulated miRNAs for each condition as well as common dysregulated miRNAs across diseases. In this study, which analyzes the findings from relevant studies from 2016 to 2020, the authors discuss the functions of numerous severely dysfunctional miRNAs and their application potential in the field of psychiatry research.

Application Prospect of Integrative Omics in Forensic Identification of Methamphetamine-Associated Psychosis / 法医学杂志

The clinical symptoms and signs of methamphetamine-associated psychosis (MAP) and schizophrenia are highly similar, but the situation is completely different when MAP and schizophrenia patients need to be assessed for criminal responsibility after they comitted a harmful behavior. Therefore, the distinction between the two psychoses is very important in forensic psychiatry. At present, the identification of these two psychoses is mainly dependent on the corresponding criteria such as the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) and the Chinese Classification of Mental Disorders Version 3 (CCMD-3). It's challenging to diagnose and distinguish between the two in practical cases due to their similar clinical symptoms and the lack of effective objective indexes. Different from the limitations of single omics, integrative omics intergrates data from multiple dimensions and has been extensively studied in the field of schizophrenia and has achieved some preliminary results. In view of the correlation between MAP and schizophrenia and the potential application value of integrative omics, this paper proposes an integrative omics strategy for MAP pathogenesis and forensic identification, aiming to improve the further understanding of the relationship between the two psychoses and the corresponding pathogenesis. It also provides references for the future exploration of integrative omics in forensic precise identification and effective monitoring and early warning methods.

Riesgo de Esquizofrenia y Síndrome Deleción 22Q11. 2 / RIsk of schizophrenia and 22q11. 2 deletion syndrome

INTRODUCCIÓN. La deleción 22q11.2 es una alteración cromosómica muy frecuente, en la cual un 60% de los afectados presenta patologías neuropsiquiátricas. Determinar si existe asociación entre el síndrome de deleción 22q11.2 (SD22q11.2) y patologías como la esquizofrenia (EQZ), ofrece una oportunidad para la intervención temprana, y seguimiento de personas con este síndrome. OBJETIVO. El objetivo del presente trabajo es determinar si existe mayor riesgo de EQZ en pacientes con síndrome deleción 22q11.2. MÉTODOS. Se realizó una búsqueda bibliográfica sistemática de publicaciones con fecha de 1990 a 2020. Las búsquedas se realizaron en PubMed y en la base de datos Cochrane. En total, se evaluaron 19 estudios, de los que se consideraron elegibles diez publicaciones para el análisis, lo que corresponde a 824 participantes. RESULTADOS. El riesgo de presentar EQZ en un individuo con SD22q11.2 es de 20-25%, en comparación al 1% de la población general. CONCLUSIONES. El riesgo para un individuo con SD22q11.2 de presentar EQZ se encuentra bien establecido. Considerar este riesgo podría ayudar a un adecuado seguimiento y una intervención temprana.

INTRODUCTION. 22q11.2 deletion syndrome is a very common chromosomal abnormality, in which 60% of those affected have neuropsychiatric disorders. Determining if there is an association between 22q11.2 deletion syndrome (22q11.2DS) and disorders such as schizophrenia (SCZ) offers an opportunity for early intervention and follow-up of people with this syndrome. OBJECTIVE. The objective of this study is to determine if there is a greater risk of SCZ in patients with 22q11.2 deletion syndrome. METHODS. A systematic review was performed for publications dated 1990 to 2020. The strategy was to search in PubMed and Cochrane databases for specific MeSH terms. In total, 19 studies were reviewed, of which 10 publications were eligible for analysis, corresponding to 824 participants. RESULTS. The risk of presenting SCZ in an individual with 22q11.2DS is 20-25%, compared to 1% in the general population.CONCLUSIONS. The risk of presenting SCZ in an individual with 22q11.2DS is well established. Considering this risk could help with adequate follow-up and early intervention.

Perfil genético del trastorno bipolar en Panamá: análisis de genes relacionados y otros factores determinantes en una región de alta prevalencia de episodios maníacos en la República de Panamá / Genetic profile of bipolar disorder in Panama: related gene analysis and other determi­ning factors in a high prevalence region of manic episodes in the Republic of Panama

Introducción El Trastorno Bipolar es una enfermedad que causa discapacidad física y cognitiva, afectando tanto a hombres como mujeres, con edad de inicio temprano y con un alto componente hereditario. Objetivo Estimar el comportamiento del Trastorno Bi­polar, variables sociodemográficas, antecedentes y su relación con los genes CACNA1­C (12p13.3) y DAOA (13q34) entre personas de 18 años y más en áreas específicas de la Región de Azuero de Panamá. Metodología La muestra calculada fue de 267 perso­nas de 18 años y más (IC 95%) utilizando un muestreo aleatorio, de distribución propor­cional según sexo. Se utilizaron las variables: "trastorno bipolar" medido a través del cuestionario de trastornos del estado de ánimo (Mood Disorder Questionnaire, MDQ por sus siglas en inglés); "genes asociados a la bipolaridad" (genes CACNA1­C (12p13.3) y DAOA (13q34)); y un cuestionario de datos sociodemográficos y antecedentes persona­les ­ familiares. El análisis genético se realizó con PCR (tiempo real). Se utilizaron por­centajes como medida de frecuencia relativa y se consideró significancia estadística para un valor de p ≤ 0.05. Resultados La prevalencia de bipolaridad en la muestra es­tudiada fue 3.7% (IC 95% 3.5 ­ 4.1), siendo mayor en mujeres, 6.0% (IC 95% 5.9 ­ 6.3). El 74.2% (IC 95% 73.9 ­ 74.4) de los participantes tenía presente el polimorfismo del gen CACNA1­C (12p13.3), y 19.1% (IC 95% 18.9 ­ 19.4) el del gen DAOA (13q34). Para todas las variables de estudio, la presencia del gen CACNA1­C (12p13.3) fue mayor que la del gen DAOA (13q34). De los 10 casos con MDQ+, 3 presentaron el gen CAC­NA1­C. Conclusión Esta es la primera investigación sobre bipolaridad, genes y otros factores asociados en Panamá. El gen CACNA1­C fue más prevalente que el DAOA y se asoció más al MDQ +.

Introduction Bipolar disorder is a disease that causes physical and cognitive disability, affecting both men and women, with an early onset age and a high hereditary compo­nent. Objective To estimate Bipolar Disorder demeanor, sociodemographic variables, antecedents and its relationship with CACNA1­C (12p13.3) and DAOA (13q34) genes among people aged 18 years and over in specific areas of the Azuero Region of Pana­ma. Methodology The calculated sample was 267 people aged 18 and over (95% CI) using random sampling, proportional distribution according to sex. The variables were used: "bipolar disorder" measured through the Mood Disorder Questionnaire (MDQ); "genes associated with bipolarity" (CACNA1­C (12p13.3) and DAOA (13q34) genes); and a sociodemographic data questionnaire and personal ­ family background. The ge­netic analysis was performed with PCR (real time). Percentages were used as a re of relative frequency and statistical significance was considered for a value of p ≤ 0.05. Results The prevalence of bipolarity in the studied sample was 3.7% (CI 95% 3.5 ­ 4.1), being higher in women, 6.0% (CI 95% 5.9 ­ 6.3). 74.2% (CI 95% 73.9 ­ 74.4) of the participants were aware of the polymorphism of the CACNA1­C gene (12p13.3), and 19.1% (CI 95% 18.9 ­ 19.4) of the DAOA gene (13q34). For all study variables, the pre­sence of the CACNA1­C gene (12p13.3) was greater than that of the DAOA gene (13q34). Of the 10 cases with MDQ +, 3 presented the CACNA1­C gene. ConclusionThis is the first research on bipolarity, genes and other associated factors in Panama. The CACNA1­C gene was more prevalent than DAOA and was more associated with MDQ +.

Research Progress on the Relationship between Genetic Polymorphism and Violent Behavior of Patients with Schizophrenia / 法医学杂志

Schizophrenia is a common disease characterized by thinking obstructions and accompanied by cognitive, emotional and behavioral disorders. Under the control of psychiatric symptoms, patients with schizophrenia may self-injure or impulsively wound others, resulting in public risk and increase in the burden of family and society. In recent years, many studies have shown that the violent behavior of patients with schizophrenia is related to genetic factors. This article reviews the research progress on the relationship between genetic polymorphism and violent behavior of patients with schizophrenia, analyzes the possible mechanism of the correlation between the two, puts forward the limitations of current research and the directions of future research, and provides scientific basis for risk assessment and prevention of violent behavior of patients with schizophrenia.

Analysis of Correlation between Gene Polymorphisms of CRHBP in Yunnan Han Population and Schizophrenia and Aggressive Behavior / 法医学杂志

Objective To explore the correlation between 4 tag single nucleotide polymorphisms （Tag SNP） sites （rs7721799, rs32897, rs7718461, rs10062367） of corticotropin releasing hormone binding protein （CRHBP） and schizophrenia and aggressive behavior in the Yunnan Han population. Methods Case-control correlation analysis was used to establish a complex amplification system. Improved multiplex ligase detection reaction （iMLDR） technology was used to detect the genotypes of 4 SNP sites of CRHBP gene of 163 Han schizophrenic patients （including 81 patients with aggressive behavior, 82 patients without aggressive behavior） and 345 healthy Han individuals, which were analyzed statistically by SPSS 19.0, Haploview 4.2 and PHASE 2.1 software. Results There was no correlation between the 3 SNP sites of CRHBP gene and the onset of schizophrenia except for the rs7718461 site （P>0.05）. The relative risk of aggressive behavior of patients carrying GG or GA genotype at rs7718461 site were 4.903 times higher than those carrying AA genotype （P<0.05）. Conclusion The CRHBP gene may not be associated with the occurrence of schizophrenia in Yunnan Han population, but AA genotype of rs7718461 may reduce the risk of aggressive behavior in schizophrenia patients.

Exploratory analysis of polygenic risk scores for psychiatric disorders: Applied to dual diagnosis

Background Concurrence of substance use disorders (SUDs) is high in individuals with psychiatric illnesses; more importantly, individuals with both disorders (dual diagnosis) have more severe symptoms. Psychiatric disorders have been proposed to share a genetic susceptibility with SUDs. To explore this shared genetic susceptibility, we analyzed whether any of the polygenic risk scores (PRSs) for psychiatric disorders could be associated to dual diagnosis in patients with schizophrenia (SCZ) or bipolar disorder (BD). Methods We included 192 individuals of Mexican ancestry: 72 with SCZ, 53 with BD, and 67 unrelated controls without psychiatric disorders. We derived calculations of PRS for autism spectrum disorders, attention-deficit/hyperactive disorder, BD, major depression, and SCZ using summary genome-wide association statistics previously published. Results We found that dual diagnosis had a shared genetic susceptibility with major depressive disorder (MDD) and SCZ; furthermore, in individuals with BD, dual diagnosis could be predicted by PRS for MDD. Conclusions Our results reinforce the notion that individuals with dual diagnosis have a higher genetic susceptibility to develop both disorders. However, analyses of larger sample sizes are required to further clarify how to predict risks through PRS within different populations.

Exploratory analysis of rare and novel variants in Mexican patients diagnosed with schizophrenia and dementia

Abstract Background Schizophrenia (SCZ) and dementia, often related, are two of the most common neuropsychiatric diseases; epidemiological studies have shown that SCZ patients present a 2-fold increased risk for dementia compared to non-schizophrenic individuals. We explored the presence of rare and novel damaging gene variants in patients diagnosed with late-onset dementia of Alzheimer’s type (DAT) or SCZ. Methods We included 7 DAT and 12 SCZ patients and performed high-depth targeted sequencing of 184 genes. Results We found novel and rare damaging variants in 18 genes in these Mexican patients. Carriers of these variants showed extreme phenotypes, including, treatment-resistant SCZ or cognitive decline. Furthermore, we found a variation on ABCC1 as a possible link between psychosis and cognitive impairment. Discussion As an exploratory analysis, we report some interesting variations that should be corroborated in larger sample size studies.

Prevalence of polymorphisms in the ANKK1, DRD2, DRD3 genes and metabolic syndrome in refractory schizophrenia / Prevalência de polimorfismos nos genes ANKK1, DRD2, DRD3 e síndrome metabólica na esquizofrenia refratária / Prevalencia de polimorfismos en los genes ANKK1, DRD2, DRD3 y síndrome metabólico en la esquizofrenia refractária

ABSTRACT Objective: to estimate the prevalence of TaqIA, -141C and rs6280 polymorphisms of the ANKK1, DRD2 and DRD3 genes and evaluate their association with the occurrence of metabolic syndrome in patients with refractory schizophrenia. Method: cross-sectional study conducted in the Extended Western Region of Minas Gerais, with refractory schizophrenic patients using the antipsychotic clozapine. Sociodemographic, clinical, anthropometric, biochemical and genetic data were collected. Univariate analysis of the data was performed. Results: seventy-two patients participated in the study and the occurrence of Metabolic Syndrome was observed in 47.2% of them. There was no association between Metabolic Syndrome and the studied polymorphisms. There was a statistically significant difference in the low HDL parameter with homozygous genotype for the C allele of the -141C polymorphism of the DRD2 gene. Conclusion: a high prevalence of MS was evidenced. The -141C polymorphism was associated with low HDL. Genetic analysis and identification of metabolic alterations in this group of patients can guide drug treatment and provide a better quality of life.

RESUMO Objetivo: estimar a prevalência dos polimorfismos TaqIA, -141C e rs6280 dos genes ANKK1, DRD2 e DRD3 e avaliar sua associação com a ocorrência de síndrome metabólica em pacientes com esquizofrenia refratária. Método: estudo de delineamento transversal, realizado na Região Ampliada Oeste de Minas Gerais, que incluiu pacientes com esquizofrenia refratária em uso do antipsicótico clozapina. Foram coletados dados sociodemográficos, clínicos, antropométricos, bioquímicos e genéticos. Realizou-se análise univariada dos dados. Resultados: participaram 72 pacientes e observou-se a ocorrência de Síndrome Metabólica em 47,2%, não sendo encontrada associação da Síndrome Metabólica com os polimorfismos estudados. Houve diferença estatisticamente significante com o parâmetro do baixo HDL com genótipo homozigoto para alelo C do polimorfismo -141C do gene DRD2. Conclusão: evidenciou-se prevalência de SM elevada. O polimorfismo -141C associou-se ao baixo HDL. A análise genética e a identificação de alterações metabólicas, neste grupo de pacientes, podem nortear o tratamento medicamentoso e propiciar melhor qualidade de vida.

RESUMEN Objetivo: estimar la prevalencia de los polimorfismos TaqIA, -141C y rs6280 de los genes ANKK1, DRD2 y DRD3 y evaluar su asociación con el síndrome metabólico en pacientes con esquizofrenia refractária. Método: estudio de delineamiento transversal, realizado en la Región Ampliada Oeste de Minas Gerais, que incluye pacientes con esquizofrenia refractária usando el antipsicótico clozapina. Fueron recogidos datos sociodemográficos, clínicos, antropométricos, bioquímicos y genéticos. Se realizó um análisis univariada de los datos. Resultados: participaron 72 pacientes y se observó el Síndrome Metabólico en 47,2%, no siendo encontrada una asociación del Síndrome Metabólico con los polimorfismos estudiados. Hubo diferencia estadísticamente significante con el parámetro del bajo HDL con genotipo homozigoto para alelo C del polimorfismo -141C del gen DRD2. Conclusión: se vio una prevalencia de SM elevada. El polimorfismo -141C se asoció al bajo HDL. El análisis genético y la identificación de alteraciones metabólicas, en este grupo de pacientes, pueden guiar al tratamiento medicamentoso y propiciar mejor calidad de vida.

Catechol-O-methyltransferase (COMT) polymorphisms modulate working memory in individuals with schizophrenia and healthy controls

Objective: Cognitive impairment is a core feature of schizophrenia, related to dopaminergic dysfunction in the prefrontal cortex (PFC). It is hypothesized that functional single nucleotide polymorphism (SNP) rs4680 of the catechol-O-methyltransferase (COMT) gene could mediate the relationship between cognition and dopamine activity in the PFC. Other COMT SNPs could also play a role. Methods: We evaluated the role of three COMT SNPs (rs737865, rs165599, and rs4680) in schizophrenia and their impact on three working memory tasks. For genetic association analyses, 212 individuals with schizophrenia and 257 healthy controls (HCs) were selected. The Visual Working Memory (VWM) Task, Keep Track Task, and Letter Memory Task were administered to 133 schizophrenics and 93 HCs. Results: We found a significant association of rs737865, with the GG genotype exerting a protective effect and the GA haplotype (rs4680/rs165599) exerting a risk effect for schizophrenia. COMT rs4680 AA carriers and rs737865 AA carriers scored lowest on the Keep Track Task. When the genotype*group interaction effect was evaluated, rs165599 exerted opposite effects for VWM and Keep Track task performance in patients and controls, with AA carriers scoring lowest on both tests among controls, but highest among patients. Conclusion: These data support the hypothesis that COMT polymorphisms may be associated with schizophrenia and modulate cognition in patients and controls.

The role of the CNR1 gene in schizophrenia: a systematic review including unpublished data

Objective: Schizophrenia is a multifactorial disorder. It is known that a combination of extensive multiple common alleles may be involved in its etiology, each contributing with a small to moderate effect, and, possibly, some rare alleles with a much larger effect size. We aimed to perform a systematic review of association studies between schizophrenia (and its subphenotypes) and polymorphisms in the CNR1 gene, which encodes cannabinoid receptors classically implicated in schizophrenia pathophysiology, as well as to present unpublished results of an association study in a Brazilian population. Methods: Two reviewers independently searched for eligible studies and extracted outcome data using a structured form. Papers were retrieved from PubMed and ISI Web of Knowledge using the search term schizophrenia in combination with CNR1 or CB1 or cannabinoid receptor. Twenty-four articles met our inclusion criteria. We additionally present data from a study of our own comparing 182 patients with schizophrenia and 244 healthy controls. Results: No consistent evidence is demonstrated. Conclusion: Some seemingly positive association studies stress the need for further investigations of the possible role of endocannabinoid genetics in schizophrenia.

The rs11191580 variant of the NT5C2 gene is associated with schizophrenia and symptom severity in a South Chinese Han population: evidence from GWAS

Objective: Recent genome-wide association studies have identified a significant relationship between the NT5C2 variant rs11191580 and schizophrenia (SCZ) in European populations. This study aimed to validate the association of rs11191580 polymorphism with SCZ risk in a South Chinese Han population. The relationship of this polymorphism with the severity of SCZ clinical symptoms was also explored. Methods: A case-control study was performed in 462 patients with SCZ and 598 healthy controls. Rs11191580 was genotyped by the Sequenom MassARRAY iPLEX platform. A total of 459 SCZ patients completed the Positive and Negative Syndrome Scale (PANSS) evaluation. Data were analyzed by PLINK software. Results: We confirmed an association of the rs11191580 polymorphism with SCZ risk in South Chinese Han under a dominant genetic model (ORadj = 0.769; 95%CIadj = 0.600-0.984; padj = 0.037). PANSS scores showed a significant association between variant rs11191580 and total score (padj = 0.032), lack of response scale score (padj = 0.022), and negative scale score (additive: padj = 0.004; dominant: padj = 0.016; recessive: padj = 0.021) after data were adjusted for age and sex. Conclusion: NT5C2 variant rs11191580 conferred susceptibility to SCZ and affected the clinical symptoms of SCZ in a South Chinese Han population.

Déficit atencional con hiperactividad: trastorno multicausal de la conducta, con heredabilidad y comorbilidad genética moderadas / Heritability and genetic comorbidity of attention deficit disorder with hyperactivity

This review aims to summarize information about the genetic etiology of attention deficit disorder with hyperactivity (ADHD), with particular reference to the contributions of our research group. We also discuss the genetic comorbidity estimated from genome-wide single nucleotide polymorphisms (SNP´s) between ADHD and major psychiatric disorders such as schizophrenia (E), major depressive disorder (MDD), bipolar disorder (BD) and autism spectrum disorders (ASD). A high genetic comorbidity was found between E and BD (46%), a moderate comorbidity between MDD and E, MDD and BD and MDD and ADHD (18%, 22% and 10% respectively) and a low comorbidity between E and ASD (2.5%). Furthermore, we show evidence concerning the genetic determination of psychiatric diseases, which is significantly lower when it is estimated from genome-wide SNP´s rather than using traditional quantitative genetic methodology (ADHD = E = 23%, BD = 25%, MDD = 21% and ASD = 17%). From an evolutionary perspective, we suggest that behavioral traits such as hyperactivity, inattention and impulsivity, which play a role in ADHD and perhaps also other hereditary traits which are part of major psychiatric disorders, could have had a high adaptive value during the early stages of the evolution of Homo sapiens. However, they became progressively less adaptive and definitively disadvantageous, to the extreme that they are involved in frequently diagnosed major psychiatric disorders.

Epistasis between COMT Val158Met and DRD3 Ser9Gly polymorphisms and cognitive function in schizophrenia: genetic influence on dopamine transmission

Objective:To assess the relationship between cognitive function, a proposed schizophrenia endophenotype, and two genetic polymorphisms related to dopamine function, catechol-O-methyl transferase (COMT) Val158Met and dopamine receptor 3 (DRD3) Ser9Gly.Methods:Fifty-eight outpatients with schizophrenia/schizoaffective disorder and 88 healthy controls underwent neurocognitive testing and genotyping. Analyses of covariance (ANCOVAs) using age, sex, and years of education as covariates compared cognitive performance for the proposed genotypes in patients and controls. ANCOVAs also tested for the epistatic effect of COMT and DRD3 genotype combinations on cognitive performance.Results:For executive functioning, COMT Val/Val patients performed in a similar range as controls (30.70-33.26 vs. 35.53-35.67), but as COMT Met allele frequency increased, executive functioning worsened. COMT Met/Met patients carrying the DRD3 Ser/Ser genotype performed poorest (16.184 vs. 27.388-31.824). Scores of carriers of this COMT/DRD3 combination significantly differed from all DRD3 Gly/Gly combinations (p < 0.05), from COMT Val/Met DRD3 Ser/Gly (p = 0.02), and from COMT Val/Val DRD3 Ser/Ser (p = 0.01) in patients. It also differed significantly from all control scores (p < 0.001).Conclusion:Combined genetic polymorphisms related to dopamine neurotransmission might influence executive function in schizophrenia. Looking at the effects of multiple genes on a single disease trait (epistasis) provides a comprehensive and more reliable way to determine genetic effects on endophenotypes.

Changes and events over life course: a comparative study between groups of older adults / Mudanças e acontecimentos ao longo da vida: um estudo comparativo entre grupos de idosos / Cambios y acontecimientos a lo largo de la vida: un estudio comparativo entre grupos de ancianos

OBJECTIVE: to identify the changes which had occurred over the last year in the life of older adults, as well as the values attributed to these changes. METHOD: this is a multicentric, cross-sectional study, of the inquiry type, undertaken in three cities of the Brazilian Northeast, investigating two distinct groups of older adults. RESULTS: among the 236 older adults interviewed, it was observed that 30.0% reported health as the main change in their life course in the last year, this category being the most significant response among the older adults aged between 80 and 84 years old (37.7%). Changes in the family were mentioned by 11.5% of the older adults; death (9.6%) and alterations in routine activities (9.6%). In relation to the value attributed to these changes, it was ascertained that for 64.7% of the older adults aged between 65 and 69 years old, these changes were positive. In the older group, 49.4% of the older adults believe that their changes were related to losses. CONCLUSION: the knowledge of the changes mentioned, the value attributed to these changes, and the self-evaluation of health provide information which assists in formulating actions which are more specific to the real needs of these age groups. They also provide the health professionals with a better understanding of how some experiences are experienced in the life trajectories of these older adults. .

OBJETIVO: identificar as mudanças ocorridas ao longo do último ano no percurso de vida de idosos, bem como as valorações atribuídas a estas mudanças. MÉTODO: trata-se de um estudo multicêntrico, transversal, tipo inquérito, realizado em três cidades do Nordeste brasileiro, que investigou dois grupos distintos de idosos. RESULTADOS: entre os 236 idosos entrevistados, 30% relataram que a saúde foi a principal mudança em seu curso de vida no último ano, sendo esta categoria de resposta mais significativa entre os idosos de 80 a 84 anos (37,7%). Modificações na família foram citadas por 11,5% dos idosos, falecimento (9,6%) e alterações nas atividades cotidianas (9,6%). Quanto à valoração atribuída a estas mudanças, verificou-se que para 64,7% dos idosos, entre 65 e 69 anos, as mudanças foram vantajosas. No grupo mais velho, 49,4% dos idosos acreditam que suas mudanças foram relacionadas a perdas. CONCLUSÃO: o conhecimento das mudanças referidas, a valoração atribuída a estas mudanças e a autoavaliação de saúde favorecem informações que auxiliam na formulação de ações mais específicas às reais necessidades destes grupos etários. Além disso, proporciona aos profissionais de saúde melhor compreensão de como são vivenciadas algumas situações na trajetória de vida destes idosos. .

OBJETIVO: identificar los cambios ocurridos a lo largo del último año en el transcurso de la vida de ancianos, así como las valoraciones atribuidas a estos cambios. MÉTODO: se trata de un estudio multicéntrico, transversal, tipo encuesta, realizado en tres ciudades del noreste brasileño, que investigó dos grupos distintos de ancianos. RESULTADOS: entre los 236 ancianos entrevistados, se constató que 30,0% relataron ser la salud el principal cambio en su curso de la vida, en el último año, siendo esta categoría de respuesta más significativa entre los ancianos de 80 a 84 años (37,7%). Modificaciones en la familia fueron citadas por 11,5% de los ancianos; fallecimiento (9,6%) y alteraciones en las actividades cotidianas (9,6%). En lo que se refiere a la valoración atribuida a estos cambios, se verificó que para 64,7% de los ancianos entre 65 y 69 años, los cambios fueron ventajosos. En el grupo con más edad, 49,4% de los ancianos creían que sus cambios fueron relacionados a pérdidas. CONCLUSIÓN: el conocimiento de los cambios referidos, la valoración atribuida a estos cambios y la autoevaluación de la salud, favorece obtener informaciones que auxilien en la formulación de acciones más específicas a las reales necesidades de estos grupos etarios. Lo que proporcionará a los profesionales de la salud una mejor comprensión de como son experimentadas algunas situaciones en la trayectoria de vida de estos ancianos. .

Comparative analysis of non-adherence to medication treatment for systemic arterial hypertension in urban and rural populations / Análise comparativa da não adesão ao tratamento medicamentoso da hipertensão arterial sistêmica em população urbana e rural / Análisis comparativa de la no adhesión al tratamiento medicamentoso de la hipertensión arterial sistémica en población urbana y rural

OBJECTIVE: to evaluate the indexes and the main factors associated with non-adherence to medication treatment for systemic arterial hypertension between urban and rural areas. METHOD: analytical study based on an epidemiological survey with a sample of 247 hypertensive residents of rural and urban areas, with application of a socio-demographic and economic questionnaire, and treatment adherence assessment. The Pearson's Chi-square test was used and the odds ratio (OD) was calculated to analyze the factors related to non-adherence. RESULTS: the prevalence of non-adherence was 61.9% and it was higher in urban areas (63.4%). Factors significantly associated with non-adherence were: male gender (OR=1.95; 95% CI 1.08-3.50), age 20-59 years old (OR=2.51; 95% CI 1.44-4.39), low economic status (OR=1.95; 95% CI 1.09-3.47), alcohol consumption (OR=5.92, 95% CI 1.73-20.21), short time of hypertension diagnosis (OR=3.07; 95% CI 1.35-6.96) and not attending the health service for routine consultations (OR=2.45; 1.35-4.42). CONCLUSION: the socio-demographic/economic characteristics, lifestyle habits and how to relate to health services were the factors that presented association with non-adherence regardless of the place of residence. .

OBJETIVO: avaliar os índices e os principais fatores associados a não adesão ao tratamento medicamentoso da hipertensão arterial sistêmica, entre área urbana e rural. MÉTODO: estudo analítico baseado em inquérito epidemiológico, realizado com amostra de 247 hipertensos moradores das áreas rural e urbana, com aplicação de questionário sociodemográfico, econômico e avaliação da adesão. Foi utilizado o teste quiquadrado de Pearson e calculado o Odds Ratio (OD) para análise dos fatores relacionados a não adesão. RESULTADOS: a prevalência da não adesão foi de 61,9%, sendo maior na área urbana (63,4%). Os fatores que apresentaram associação estatisticamente significativa com a não adesão foram: gênero masculino (OR=1,95; IC95% 1,08-3,50), faixa etária entre 20 e 59 anos (OR=2,51; IC95% 1,44-4,39), baixa classe econômica (OR=1,95; IC95% 1,09-3,47), etilismo (OR=5,92; IC 95% 1,73-20,21), tempo curto de diagnóstico de hipertensão (OR=3,07; IC95% 1,35-6,96) e não procura pelo serviço de saúde para consultas de rotina (OR=2,45; 1,35-4,42). CONCLUSÃO: as características sociodemográficas, econômicas, hábitos de vida e o modo de relacionar-se com os serviços de saúde foram os fatores que apresentaram associação com a não adesão, independentemente do local de residência. .

OBJETIVO: evaluar los índices y los principales factores asociados a la no adhesión al tratamiento medicamentoso de la hipertensión arterial sistémica entre área urbana y rural. MÉTODO: estudio analítico basado en investigación epidemiológica desarrollada con una muestra de 247 hipertensos moradores del área rural y urbana, con aplicación de un cuestionario sociodemográfico, económico y evaluación de la adhesión. Fue utilizado la prueba chi-cuadrado de Pearson y calculado el odds ratio (OD) para análisis de los factores relacionados a la no adhesión. RESULTADOS: la prevalencia de la no adhesión correspondió a 61,9%, siendo mayor en el área urbana (63,4%). Los factores que mostraron asociación estadísticamente significativa con la no adhesión fueron: género masculino (OR=1,95; IC95% 1,08-3,50), rango de edad entre 20 a 59 años (OR=2,51; IC95% 1,44-4,39), clase económica baja (OR=1,95; IC95% 1,09-3,47), etilismo (OR=5,92; IC 95% 1,73-20,21), tiempo corto de diagnóstico de hipertensión (OR=3,07; IC95% 1,35-6,96) y no procurar el servicio de salud para consultas de rutina (OR=2,45; 1,35-4,42). CONCLUSIÓN: las características sociodemográficas/económicas, hábitos de vida y el modo de relacionar con los servicios de salud fueron los factores que mostraron asociación con la no adhesión independientemente del local de residencia. .

Clinical applicability of nursing outcomes in the evolution of orthopedic patients with Impaired Physical Mobility / Aplicabilidade clínica dos resultados de enfermagem na evolução de pacientes ortopédicos com mobilidade física prejudicada / Aplicabilidad clínica de los resultados de enfermería en la evolución de pacientes ortopédicos con movilidad física perjudicada

AIM: to evaluate the clinical applicability of outcomes, according to the Nursing Outcomes Classification (NOC) in the evolution of orthopedic patients with Impaired Physical Mobility METHOD: longitudinal study conducted in 2012 in a university hospital, with 21 patients undergoing Total Hip Arthroplasty, evaluated daily by pairs of trained data collectors. Data were collected using an instrument containing five Nursing Outcomes, 16 clinical indicators and a five point Likert scale, and statistically analyzed. RESULTS: The outcomes Body Positioning: self-initiated, Mobility, Knowledge: prescribed activity, and Fall Prevention Behavior presented significant increases in mean scores when comparing the first and final evaluations (p<0.001) and (p=0.035). CONCLUSION: the use of the NOC outcomes makes it possible to demonstrate the clinical progression of orthopedic patients with Impaired Physical Mobility, as well as its applicability in this context. .

OBJETIVO: avaliar a aplicabilidade clínica de resultados, segundo a Classificação de Resultados de Enfermagem (NOC), na evolução de pacientes ortopédicos com Mobilidade Física Prejudicada. MÉTODO: estudo longitudinal realizado em um hospital universitário, com 21 pacientes submetidos à Artroplastia Total de Quadril, em 2012, avaliados diariamente por pares de coletadoras capacitadas. Os dados foram coletados por meio de instrumento contendo cinco Resultados de Enfermagem, 16 indicadores clínicos e uma escala Likert de cinco pontos, que foram analisados estatisticamente. RESULTADOS: os resultados Posicionamento do Corpo: autoiniciado, Mobilidade, Conhecimento: atividade prescrita e comportamento de prevenção de quedas apresentaram aumento significativo nos escores quando comparadas às médias da primeira com a última avaliação (p<0,001) e (p=0,035). CONCLUSÃO: o uso dos resultados da NOC possibilitou demonstrar a evolução clínica dos pacientes ortopédicos com Mobilidade Física Prejudicada e sua aplicabilidade neste cenário. .

OBJETIVO: evaluar la aplicabilidad clínica de resultados, según la Clasificación de Resultados de Enfermería (NOC) en la evolución de pacientes ortopédicos con Movilidad Física Perjudicada. MÉTODO: estudio longitudinal realizado en un hospital universitario, con 21 pacientes sometidos a Artroplastia Total de la Cadera en 2012, evaluados diariamente por pares de auxiliares capacitadas. Los datos fueron recolectados por medio de instrumento conteniendo cinco Resultados de Enfermería, 16 indicadores clínicos y una escala Likert de cinco puntos, que fueron analizados estadísticamente. RESULTADOS: los resultados Posicionamiento del Cuerpo (autoiniciado, movilidad), Conocimiento (actividad prescrita) y Comportamiento (prevención de caídas), presentaron aumento significativo en los puntajes cuando comparados los promedios de la primera evaluación con la última, (p<0,001) y (p=0,035) respectivamente. CONCLUSIÓN: el uso de los resultados de la NOC posibilitó demostrar la evolución clínica de los pacientes ortopédicos con Movilidad Física Perjudicada y su aplicabilidad en este escenario. .

El síndrome 22q11.2D S como un subtipo genético de esquizofrenia / 22q11.2 DS Syndrome as a Genetic Subtype of Schizophrenia

Introducción: El síndrome de deleción 22q11.2 (22q11.2 DS) se produce por microdeleciones del brazo largo del cromosoma 22 en la región q11.2. Después del síndrome de Down, es el segundo síndrome genético más común. En pacientes con esquizofrenia, el 22q11.2 DS tiene una prevalencia del 2%, mientras que en personas con esquizofrenia seleccionadas por características físicas específicas, aumenta un 32-53%. Objetivo: Describir las generalidades del 22q11.2 DS, sus características clínicas, los aspectos genético-moleculares y la frecuencia de la microdeleción de 22q11.2 en diferentes poblaciones. Métodos: Se hizo una revisión desde 1967 hasta 2013 en bases de datos de publicaciones científicas, orientada a recopilar artículos sobre el 22q11.2 DS y su relación con la esquizofrenia. Resultados: El 22q11.2 DS es una entidad genética que se asocia a un fenotipo variable relacionado con defectos congénitos en diferentes tejidos y órganos, así como a una alta frecuencia de trastornos psiquiátricos, particularmente la esquizofrenia. Se ha identificado alta prevalencia en grupos de personas con esquizofrenia seleccionadas por características sindrómicas comunes, como dificultades de aprendizaje, rasgos faciales típicos, anomalías palatales y defectos cardiacos congénitos. Las técnicas de FISH, qPCR, MLPA y, recientemente, aCGH y NGS se están usando para diagnosticar esta microdeleción. Conclusiones: En la práctica clínica es importante tener presente que las personas con 22q11.2 DS tienen alto riesgo de sufrir esquizofrenia, ya que la región 22q11.2 alberga genes candidatos relacionados con vulnerabilidad a esquizofrenia. Se considera que la concomitancia de esta enfermedad y 22q11.2 DS representa un subtipo genético de esquizofrenia. y métodos citogenéticos y moleculares para diagnosticar a este grupo de pacientes y optimizar un abordaje multidisciplinario en su seguimiento.

Introduction: The 22q11.2 deletion syndrome (22q11.2 DS) is associated with the microdeletion of this chromosomal region, and represents the second most common genetic syndrome after Down's syndrome. In patients with schizophrenia, 22q11.2 DS has a prevalence of 2%, and in selected groups can be increased to between 32-53%. Objective: To describe the generalities of 22q11.2 DS syndrome as a genetic subtype of schizophrenia, its clinical characteristics, molecular genetic aspects, and frequency in different populations. Methods: A review was performed from 1967 to 2013 in scientific databases, compiling articles about 22q11.2 DS syndrome and its association with schizophrenia. Results: The 22q11.2 DS syndrome has a variable phenotype associated with other genetic syndromes, birth defects in many tissues and organs, and a high rate of psychiatric disorders, particularly schizophrenia. Likewise, it has been identified in clinical populations with schizophrenia selected by the presence of common syndromic characteristics. FISH, qPCR and MLPA techniques, and recently, aCGH and NGS technologies, are being used to diagnose this microdeletion. Conclusions: It is important in clinical practice to remember that people suffering the 22q11.2 DS have a high genetic risk for developing schizophrenia, and it is considered that the simultaneous presence of this disease and 22q11.2 DS represents a genetic subtype of schizophrenia. There are clear phenotypic criteria, molecular and cytogenetic methods to diagnose this group of patients, and to optimize a multidisciplinary approach in their monitoring.