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1.
Rev. latinoam. enferm. (Online) ; 26: e2983, 2018. tab
Article in English | LILACS (Americas) | ID: biblio-901928

ABSTRACT

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.


Subject(s)
Humans , Male , Female , Adult , Schizophrenia/complications , Schizophrenia/genetics , Receptors, Dopamine D2/genetics , Protein-Serine-Threonine Kinases/genetics , Metabolic Syndrome/complications , Metabolic Syndrome/genetics , Metabolic Syndrome/epidemiology , Polymorphism, Genetic
2.
Rev. latinoam. enferm. (Online) ; 26: e2983, 2018. tab
Article in English | LILACS (Americas), BDENF | ID: biblio-901949

ABSTRACT

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.


Subject(s)
Humans , Male , Female , Adult , Polymorphism, Genetic , Schizophrenia/complications , Schizophrenia/genetics , Receptors, Dopamine D2/genetics , Protein-Serine-Threonine Kinases/genetics , Metabolic Syndrome/complications , Metabolic Syndrome/genetics , Receptors, Dopamine D3/genetics , Prevalence , Cross-Sectional Studies , Metabolic Syndrome/epidemiology
3.
Rev. bras. psiquiatr ; 39(4): 302-308, Oct.-Dec. 2017. tab, graf
Article in English | LILACS (Americas) | ID: biblio-899370

ABSTRACT

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.


Subject(s)
Humans , Male , Female , Adult , Schizophrenia/genetics , Catechol O-Methyltransferase/genetics , Prefrontal Cortex/metabolism , Memory, Short-Term/physiology , Phenotype , Schizophrenia/physiopathology , Schizophrenia/metabolism , Haplotypes , Catechol O-Methyltransferase/metabolism , Case-Control Studies , Genetic Predisposition to Disease , Polymorphism, Single Nucleotide/genetics , Gene Frequency , Genotype , Neuropsychological Tests
4.
Rev. bras. psiquiatr ; 39(2): 160-171, Apr.-June 2017. tab, graf
Article in English | LILACS (Americas) | ID: biblio-844185

ABSTRACT

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.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Schizophrenia/genetics , Polymorphism, Single Nucleotide , Receptor, Cannabinoid, CB1/genetics , Antipsychotic Agents/therapeutic use , Brazil , Case-Control Studies , Comorbidity , Endocannabinoids/genetics , Genetic Association Studies , Gene Frequency
5.
Rev. bras. psiquiatr ; 39(2): 104-109, Apr.-June 2017. tab
Article in English | LILACS (Americas) | ID: biblio-844191

ABSTRACT

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.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Young Adult , Schizophrenia/genetics , Polymorphism, Single Nucleotide/genetics , Genome-Wide Association Study/methods , Psychiatric Status Rating Scales , Reference Values , Severity of Illness Index , Case-Control Studies , Linear Models , China , Risk Factors , Asian Continental Ancestry Group/genetics , Genotyping Techniques , Gene Frequency
6.
Rev. bras. psiquiatr ; 37(3): 235-241, July-Sept. 2015. tab, ilus
Article in English | LILACS (Americas) | ID: lil-759435

ABSTRACT

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.


Subject(s)
Adult , Female , Humans , Male , Middle Aged , Young Adult , Catechol O-Methyltransferase/genetics , Cognition/physiology , Epistasis, Genetic , Polymorphism, Single Nucleotide , /genetics , Schizophrenia/genetics , Analysis of Variance , Case-Control Studies , Educational Status , Executive Function/physiology , Gene Frequency , Genetic Association Studies , Neuropsychological Tests , Real-Time Polymerase Chain Reaction , Schizophrenia/physiopathology
7.
Rev. latinoam. enferm ; 23(1): 3-10, Jan-Feb/2015. tab
Article in English | LILACS (Americas), BDENF | ID: lil-742016

ABSTRACT

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. .


Subject(s)
Humans , Male , Female , Adult , Young Adult , Cognition Disorders/genetics , Endophenotypes , Genetic Predisposition to Disease/genetics , Schizophrenia/complications , Schizophrenia/genetics , Analysis of Variance , Cognition Disorders/etiology , Follow-Up Studies , Genetic Association Studies , Neuropsychological Tests , Principal Component Analysis , Psychiatric Status Rating Scales
8.
Rev. latinoam. enferm ; 23(1): 20-27, Jan-Feb/2015. tab
Article in English | LILACS (Americas), BDENF | ID: lil-742030

ABSTRACT

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. .


Subject(s)
Humans , Male , Female , Adolescent , Adult , Middle Aged , Aged , Young Adult , Amino Acid Metabolism, Inborn Errors/complications , Genetic Predisposition to Disease/genetics , Proline Oxidase/deficiency , Schizophrenia , Vitamin D Deficiency/complications , Amino Acid Metabolism, Inborn Errors/blood , Fasting/blood , Models, Statistical , Mutation/genetics , Proline Oxidase/blood , Proline Oxidase/genetics , Proline/metabolism , Risk Factors , Schizophrenia/blood , Schizophrenia/etiology , Schizophrenia/genetics , Vitamin D/analogs & derivatives , Vitamin D/blood
9.
Rev. latinoam. enferm ; 23(1): 51-58, Jan-Feb/2015. tab, graf
Article in English | LILACS (Americas), BDENF | ID: lil-742031

ABSTRACT

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. .


Subject(s)
Humans , Male , Female , Adult , Middle Aged , DNA Copy Number Variations/genetics , Genetic Predisposition to Disease/genetics , Polymerase Chain Reaction , Receptors, Vasoactive Intestinal Peptide, Type II/genetics , Schizophrenia/genetics , Asian Continental Ancestry Group/ethnology , Asian Continental Ancestry Group/genetics , Genotype , Schizophrenia/ethnology
10.
Rev. colomb. psiquiatr ; 44(1): 50-60, ene.-mar. 2015. tab
Article in Spanish | LILACS (Americas) | ID: lil-770888

ABSTRACT

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.


Subject(s)
Humans , DiGeorge Syndrome/genetics , Schizophrenia/genetics , DiGeorge Syndrome/diagnosis , DiGeorge Syndrome/psychology , Genetic Counseling , Genetic Predisposition to Disease , Phenotype
11.
Article in English | IMSEAR (South-East Asia), GHL | ID: sea-158369

ABSTRACT

Background & objectives: Schizophrenia, the debilitating neuropsychiatric disorder, is known to be heritable, involving complex genetic mechanisms. Several chromosomal regions associated with schizophrenia have been identified during the past; putative gene (s) in question, to be called the global signature for the pathophysiology of the disease, however, seems to evade us. The results obtained from the several population-wise association-non association studies have been diverse. we therefore, undertook the present study on Tamil speaking population in south India to examine the association between the single nucleotide polymorphisms (SNPs) at the serotonin receptor gene (5HT2A) and the occurrence of the disease. Methods: Blood samples collected from 266 cases and 272 controls were subjected to genotyping (PCR amplification of candidate SNPs, RFLP and sequencing). The data on the SNPs were subjected to statistical analysis for assessing the gene frequencies in both the cases and the controls. Results: The study revealed significant association between the genotypic frequencies of the serotonin receptor polymorphism and schizophrenia. SNP analysis revealed that the frequencies of GG (30%, rs6311) and CC genotypes (32%, rs6313), were higher in patients (P<0.05) than in controls. The study also showed presence of G and C alleles in patients. significant levels of linkage disequilibrium (LD) were found to exist between the genotype frequencies of rs6311 and rs6313. Interpretation & conclusions: This study indicated an association between the SNPs (rs6311 and rs6313) of the serotonin receptor 5HT2A and schizophrenia. HapMap analysis revealed that in its genotype distribution, the Tamil speaking population was different from several other populations across the world, signifying the importance of such ethnicity-based studies to improve our understanding of this complex disease.


Subject(s)
Adult , Female , Gene Frequency , Genetic Association Studies , Genetic Predisposition to Disease , Humans , India , Linkage Disequilibrium , Male , Middle Aged , Polymorphism, Single Nucleotide , Receptor, Serotonin, 5-HT2A/genetics , Schizophrenia/genetics , Schizophrenia/pathology , Serotonin/genetics
13.
Rev. bras. psiquiatr ; 36(3): 227-232, Jul-Sep/2014. tab, graf
Article in English | LILACS (Americas) | ID: lil-718437

ABSTRACT

Objective: Schizophrenia is a complex psychiatric disorder, characterized by disturbed patterns of thought and affecting 0.3-2.0% of the world population. Previously, the multidrug resistance 1 (MDR1) gene has been associated with schizophrenia in treatment response studies in psychotic patients. The aim of this study was to determine the association between MDR1 gene polymorphisms and clinical characteristics in patients with schizophrenia. Methods: Positive and negative symptoms of schizophrenia were assessed with the Scale for the Assessment of Negative Symptoms (SANS) and the Scale for the Assessment of Positive Symptoms (SAPS) in 158 Mexican patients with schizophrenia. Analyses of MDR1 gene polymorphisms were performed using TaqMan technology. A multivariate ANOVA was performed with MDR1 polymorphisms and gender as independent variables. Results: Males with the G/G genotype of MDR1 rs2032582 presented significantly higher levels of delusions (p = 0.02). When comparing female vs. male groups, the difference was statistically significant (p = 0.0003). Analyses of the MDR1 gene rs1045642 variant showed no significant differences. Conclusion: Our findings suggest that male carriers of the G allele of variant rs2032582 exhibit greater severity of delusions; however, these results should be taken as preliminary, and replication studies in other populations of different ethnic origins are required to confirm these findings. .


Subject(s)
Adolescent , Adult , Female , Humans , Male , Middle Aged , Young Adult , Genetic Association Studies , ATP Binding Cassette Transporter, Subfamily B, Member 1/genetics , Polymorphism, Single Nucleotide/genetics , Schizophrenia/genetics , Analysis of Variance , Gene Frequency , Genotype , Mexico , Polymerase Chain Reaction , Severity of Illness Index , Sex Factors
15.
Arq. neuropsiquiatr ; 72(8): 582-586, 08/2014. tab
Article in English | LILACS (Americas) | ID: lil-718119

ABSTRACT

Schizophrenia is a severe psychotic disorder with recurrent relapse and functional impairment. It results from a poorly understood gene-environment interaction. The Taq1A polymorphism (located in the gene cluster NTAD) is a likely candidate for schizophrenia. Its rs1800497 polymorphism was shown to be associated with DRD2 gene expression. Therefore the present work aims to investigate a possible association between schizophrenia and such polymorphism. The compared distribution of the alleles and genotypes of the studied polymorphism was investigated in a Brazilian sample of 235 patients and 834 controls. Genotypic frequencies were in Hardy-Weinberg equilibrium. There was a trend of allelic association between the Taq1A polymorphism (rs1800497) with schizophrenia in the studied sample. However no statistically differences were found between cases and controls when analyzed by gender or schizophrenia subtypes.


A esquizofrenia é um grave transtorno psicótico que apresenta frequentes recaídas e incapacitação progressiva. Resulta de uma interação gene-ambiente ainda pouco compreendida. O polimorfismo Taq1A (localizado no grupamento genético NTAD) é considerado um possível candidato para esquizofrenia. O polimorfismo genético rs1800497 foi associado com alteração da expressão do gene do DRD2. Assim, o presente trabalho objetivou investigar a possível associação de tal polimorfismo com esquizofrenia. A distribuição de seus alelos e genótipos foi investigada em uma amostra brasileira composta de 235 pacientes e 834 controles. As frequências genotípicas estavam em equilíbrio de Hardy-Weinberg. Houve uma tendência de associação alélica entre o polimorfismo Taq1A (rs1800497) e esquizofrenia na amostra estudada. No entanto, não houve diferenças estatisticamente significantes entre os grupos de casos e controles, quando analisados por gênero e subtipos da esquizofrenia.


Subject(s)
Female , Humans , Male , Gene-Environment Interaction , Polymorphism, Genetic/genetics , /genetics , Schizophrenia/genetics , Taq Polymerase/genetics , Brazil , Case-Control Studies , Gene Frequency , Genetic Predisposition to Disease , Genotype
16.
Rev. bras. psiquiatr ; 35(3): 305-317, Jul-Sep/2013. tab
Article in English | LILACS (Americas) | ID: lil-687938

ABSTRACT

Objectives: Clozapine is quite effective to treat schizophrenia, but its use is complicated by several factors. Although many patients respond to antipsychotic therapy, about 50% of them exhibit inadequate response, and ineffective medication trials may entail weeks of unremitted illness, potential adverse drug reactions, and treatment nonadherence. This review of the literature sought to describe the main pharmacogenetic studies of clozapine and the genes that potentially influence response to treatment with this medication in schizophrenics. Methods: We searched the PubMed database for studies published in English in the last 20 years using keywords related to the topic. Results and Conclusions: Our search yielded 145 studies that met the search and selection criteria. Of these, 21 review articles were excluded. The 124 studies included for analysis showed controversial results. Therefore, efforts to identify key gene mechanisms that will be useful in predicting clozapine response and side effects have not been fully successful. Further studies with new analysis approaches and larger sample sizes are still required. .


Subject(s)
Humans , Antipsychotic Agents/therapeutic use , Clozapine/therapeutic use , Drug Resistance/genetics , Schizophrenia/drug therapy , Schizophrenia/genetics , Polymorphism, Genetic , Schizophrenia/ethnology
17.
Iatreia ; 26(3): 245-256, July-Sept. 2013. ilus, tab
Article in English | LILACS (Americas) | ID: lil-683585

ABSTRACT

Schizophrenia is a multifactorial disease with high genetic heterogeneity and complex inheritance. In Boyacá, Colombia, we studied a group of 20 schizophrenic patients (16 men and 4 women) to establish their sociodemographic and clinical characteristics as well as their genetic and precipitating factors. The patients were analyzed using cytogenetic studies and a descriptive analysis of qualitative and quantitative variables. The disease frequently first manifested in young adults (average age of initiation: 22.5 years). The predominant subtype (8/20) was paranoid schizophrenia, and the onset was typically gradual (14/20). Precipitating factors were found in 15 patients: physical factors in nine patients, social factors in five patients and economic factor in one patient. All karyotypes were normal. Clinical features did not associate with either the sociodemographic characteristics or the genetic and predisposing factors, supporting the clinical heterogeneity of schizophrenia. Patients and their families received genetic counseling and explanations of the study's results, the possibility of recurrences and the risk of suffering the disease given an affected relative. Further and larger studies are required to determine if the factors evaluated in this study influence the development of the disease.


La esquizofrenia, enfermedad multifactorial, tiene gran heterogeneidad genética y herencia compleja. En Boyacá, Colombia, se estudió un grupo de 20 pacientes esquizofrénicos (16 hombres y cuatro mujeres) y se establecieron las características sociodemográficas y clínicas y los factores genéticos y precipitantes. Se hicieron estudio citogenético y un análisis descriptivo de las variables cualitativas y cuantitativas. Hubo predominio del comienzo de la enfermedad en adultos jóvenes (promedio de edad en el momento de la aparición: 22,5 años). Predominaron la esquizofrenia paranoide (8/20) con modo de aparición progresivo (14/20). Se hallaron factores precipitantes en 15 pacientes: físicos en nueve, sociales en cinco y económicos en uno. Todos los cariotipos fueron normales. Los rasgos clínicos no se asociaron con las características sociodemográficas ni con los factores genéticos y precipitantes, lo que evidencia gran heterogeneidad en las formas de manifestación de la enfermedad. Se dio asesoría genética a los pacientes y sus familias y se les explicaron los resultados, el riesgo de recurrencias y el de padecer la enfermedad cuando se tiene un pariente afectado. Es necesario analizar una serie mayor de casos, para poder determinar si los factores evaluados influyen en el desarrollo de la enfermedad.


Subject(s)
Humans , Adult , Schizophrenia/genetics , Schizophrenia , Colombia
19.
Article in Portuguese | LILACS (Americas) | ID: lil-666270

ABSTRACT

Esquizofrenia é uma severa doença neurobiológica com fatores genéticos e ambientais desempenhando um papel na fisiopatologia. Diversas regiões cerebrais têm sido implicadas no processo da doença e estão conectadas em complexos circuitos neuronais. Nos níveis molecular e celular, a conectividade afetada entre essas regiões, envolvendo mielinização disfuncional dos axônios neuronais, bem como as alterações no nível sináptico e metabolismo energético levando a distúrbios na plasticidade sináptica, são os maiores achados em estudos post-mortem. Estudos de microarranjos investigando a expressão gênica contribuíram para os achados de alterações em vias complexas em regiões cerebrais relevantes na esquizofrenia. Além disso, estudos utilizando microdissecção e captura a laser permitiram a investigação da expressão gênica em grupos específicos de neurônios. Entretanto, deve ser mantido em mente que em estudos post-mortem, confusos efeitos de medicação, qualidade de RNAm, bem como capacidade de mecanismos regenerativos neuroplásticos do cérebro em indivíduos com história de vida de esquizofrenia, podem influenciar o complexo padrão de alterações no nível molecular. Apesar dessas limitações, estudos transcriptômicos livres de hipóteses em tecido cerebral de pacientes esquizofrênicos oferecem uma possibilidade única para aprender mais sobre os mecanismos subjacentes, levando a novas ópticas da fisiopatologia da doença


Schizophrenia is a severe neurobiological disease with genetic and environmental factors playing a role in the pathophysiology. Several brain regions have been implicated in the disease process and are connected in complex neuronal circuits. On the cellular and molecular level, affected connectivity between these regions, involving dysfunctional myelination of neuronal axons, as well as alterations on the synaptic level and energy metabolism of neurons leading to disturbances in synaptic plasticity are major findings in post-mortem studies. Microarray studies investigating genome-wide gene expression have contributed to the findings of alterations in complex pathways in relevant brain regions in schizophrenia. Moreover, first Laser-capture Microdissection studies allowed the investigation of gene expression in specific groups of neurons. However, it must be kept in mind that in post-mortem studies confounding effects of medication, mRNA quality as well as the capability of the brain for neuroplastic regenerative mechanisms in individuals with a lifetime history of schizophrenia may influence the complex pattern of alterations on the molecular level. Despite these limitations, hypothesis-free transcriptome studies in brain tissue from schizophrenia patients offer a unique possibility to learn more about underlying mechanisms, leading to new insights in the pathophysiology of the disease


Subject(s)
Brain Chemistry , Cerebrum/anatomy & histology , Schizophrenia/genetics , Gene Expression , Real-Time Polymerase Chain Reaction , Transcriptome/genetics
20.
Article in Portuguese | LILACS (Americas) | ID: lil-666275

ABSTRACT

Sintomas psiquiátricos são subjetivos por natureza e tendem a se sobrepor entre diferentes desordens. Sendo assim, a criação de modelos de uma desordem neuropsiquiátrica encontra desafios pela falta de conhecimento dos fundamentos da fisiopatologia e diagnósticos precisos. Modelos animais são usados para testar hipóteses de etiologia e para representar a condição humana tão próximo quanto possível para aumentar nosso entendimento da doença e avaliar novos alvos para a descoberta de drogas. Nesta revisão, modelos animais genéticos e de neurodesenvolvimento de esquizofrenia são discutidos com respeito a achados comportamentais e neurofisiológicos e sua associação com a condição clínica. Somente modelos animais específicos de esquizofrenia podem, em último caso, levar a novas abordagens diagnósticas e descoberta de drogas. Argumentamos que biomarcadores moleculares são importantes para aumentar a tradução de animais a humanos, já que faltam a especificidade e a fidelidade necessárias às leituras comportamentais para avaliar sintomas psiquiátricos humanos


Psychiatric symptoms are subjective by nature and tend to overlap between different disorders. The modelling of a neuropsychiatric disorder therefore faces challenges because of missing knowledge of the fundamental pathophysiology and a lack of accurate diagnostics. Animal models are used to test hypotheses of aetiology and to represent the human condition as close as possible to increase our understanding of the disease and to evaluate new targets for drug discovery. In this review, genetic and neurodevelopmental animal models of schizophrenia are discussed with respect to behavioural and neurophysiological findings and their association with the clinical condition. Only specific animal models of schizophrenia may ultimately lead to novel diagnostic approaches and drug discovery. We argue that molecular biomarkers are important to improve animal to human translation since behavioural readouts lack the necessary specificity and reliability to assess human psychiatric symptoms


Subject(s)
Animals , Mice , Biomarkers, Pharmacological , Schizophrenia/diagnosis , Schizophrenia/physiopathology , Schizophrenia/genetics , Models, Animal , Molecular Diagnostic Techniques , Biomarkers , Predictive Value of Tests , Mice
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