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1.
Mol Genet Metab Rep ; 31: 100870, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35782624

RESUMO

Introduction: Although the diurnal fluctuation of motor dysfunction, reversible with small doses of dopamine, is a cornerstone for the phenotype of the autosomal dominant Segawa syndrome, the non-motor symptoms of this neurotransmitter deficiency have still received limited attention. Objective: This study aims to evaluate non-motor symptoms of this dopa-responsive dystonia through an intrafamilial comparative cross-sectional study. Methods: Seventeen individuals with a c.IVS5 + 3insT (c.626 + 3insT) variation in the GTP cyclohydrolase-1 gene (GCH1, HGNC: 4193) and 34 intrafamilial controls were studied using the Beck Depression Inventory-II, the Wiener Matrizen Test 2, the Epworth Sleepiness Scale, the Pittsburgh Sleep Quality Index, the MINI/MINI PLUS Questionnaires, the World Health Organization Quality of Life - BREF Instrument and a drug use assessment questionnaire. Results: No significant difference was found between the groups in the prevalence of sleep disorders and in cognitive function. Nevertheless, generalized anxiety disorder (p = 0.050) and attention-deficit/hyperactivity disorder in childhood (p = 0.011) were observed only in individuals without the molecular variation. The group with the GCH1 variation presented a worse perception about how safe they feel in their daily lives (p = 0.034), less satisfaction with themselves (p = 0.049) and with their relationships (p = 0.029), and a higher prevalence of past major depressive episodes before use of L-Dopa (p = 0.046). Conclusion: Low dopamine could have been protective against generalized anxiety disorder and attention-deficit/hyperactivity disorder in childhood in Segawa group individuals. The prevalence of depression was higher in individuals with the molecular variant prior to the L-Dopa treatment. Considering it, the penetrance estimates for the variant carriers increased from 58.8% to up to 88% in this large studied family. Additionally, neuropsychiatric tests of all individuals with a molecular diagnosis in an affected family are a valuable instrument for its clinical management.

2.
Clin Res Hepatol Gastroenterol ; 43(4): 417-426, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-30591371

RESUMO

AIMS: To investigate the association of IL10 SNPs in chronic hepatitis C (CHC) patients with and without the first major depressive episode (MDE), as well as their association with plasma levels of target cytokines. METHODS: A hundred and thirty two CHC patients (32 with and 100 without first MDE) and 98 controls were prospectively enrolled in this cross-sectional study. MDE was diagnosed by a psychiatrist, using the Mini International Neuropsychiatric Interview Plus 5.0. IL10 polymorphisms (-1082 G/A, -819C/T and -592C/A IL10 SNPs) were evaluated by Taqman SNP genotyping assay. Plasma concentrations of IL-2, IL-6, IL-10, IFN-γ and TNF-α were determined using the Human Th1/Th2 Cytometric Bead Array kit. The associations were investigated by logistic models. RESULTS: The frequencies of the studied IL10 SNPs did not differ between the CHC patients and controls. The first MDE was positive and independently associated with the IL10-1082*A, IL10-819*T and IL10-592*A (ATA) low producer haplotype (OR = 1.50; 95% CI = 1.11-2.04; P = 0.009) and current alcohol misuse (OR = 4.29; 95% CI = 1.22-15.05; P = 0.02), and inversely associated with increasing age (OR = 0.94; 95% CI = 0.91-0.98; P = 0.006). In addition, plasma level of TNF-α was significantly higher in the carriers than in the non-carriers of the IL10 ATA haplotype in patients with the first MDE. The IL-10 and IL-2 plasma levels were significantly higher in the carriers than in non-carriers of the IL10 GCC high producer haplotype, demonstrating the functionality of the studied IL10 polymorphisms. CONCLUSIONS: This is the first study to demonstrate that the IL10 low producer ATA haplotype is associated with the first MDE in patients with CHC.


Assuntos
Transtorno Depressivo Maior/genética , Hepatite C Crônica/genética , Hepatite C Crônica/psicologia , Interleucina-10/genética , Polimorfismo de Nucleotídeo Único , Regiões Promotoras Genéticas , Adulto , Fatores Etários , Consumo de Bebidas Alcoólicas/psicologia , Biomarcadores/sangue , Estudos de Casos e Controles , Distribuição de Qui-Quadrado , Transtorno Depressivo Maior/sangue , Feminino , Haplótipos , Hepatite C Crônica/sangue , Humanos , Interferon gama/sangue , Interleucina-10/sangue , Interleucina-2/sangue , Interleucina-6/sangue , Masculino , Pessoa de Meia-Idade , Razão de Chances , Estudos Prospectivos , Fator de Necrose Tumoral alfa/sangue , Adulto Jovem
3.
Psychiatry Res ; 251: 85-89, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-28189942

RESUMO

The aim of this study was to compare the global functioning and cognitive performance in a community sample of young adults with mood disorders versus community controls. This was a cross-sectional study nested in a cohort study with a community sample. Data was collected from February 2012 to June 2014; specifically, at a mean of five years after the first phase, all young adults were invited to participate in a re-evaluation. Mini International Neuropsychiatric Interview - PLUS (MINI-PLUS) was used for the diagnosis of mood disorders. The Functional Assessment Short Test (FAST) and the Montreal Cognitive Assessment (MoCA) were used to assess the global functioning, and cognitive performance, respectively. Were included 1258 subjects. Functional impairment was greater in subjects with bipolar disorder when compared to community controls, and there were no differences between major depressive disorder and community controls. There were no significant differences in cognitive performance between young adults with mood disorders when compared to community controls. Functional impairment is a marker for bipolar disorder in young adults; however, gross cognitive impairment assessed by a screening test is not, possibly because cognition is impaired in more advanced stages of the disorder.


Assuntos
Transtornos Cognitivos/epidemiologia , Transtornos Cognitivos/psicologia , Transtornos do Humor/epidemiologia , Transtornos do Humor/psicologia , Características de Residência , Adolescente , Adulto , Brasil/epidemiologia , Cognição/fisiologia , Transtornos Cognitivos/diagnóstico , Estudos de Coortes , Estudos Transversais , Feminino , Humanos , Masculino , Transtornos do Humor/diagnóstico , Testes Neuropsicológicos , Adulto Jovem
4.
BMC Res Notes ; 10(1): 57, 2017 Jan 21.
Artigo em Inglês | MEDLINE | ID: mdl-28109311

RESUMO

BACKGROUND: Major depressive episodes (MDE) are frequent at the population level and are generally associated with severe symptoms that impair performance of activities of daily living of individuals suffering from this condition. The aim of this study was to compare the accuracy of two tests that separately showed suitable properties in screening for MDE: the Patient Health Questionnaire-9 (PHQ-9) and the Edinburgh Postnatal Depression Scale (EPDS). METHODS: In a previous study, the sensitivity and specificity of the PHQ-9 and the EPDS in screening for MDE were compared with a structured diagnostic interview conducted by psychiatrics and psychologists using the Mini International Neuropsychiatric Interview as the gold standard. In a sample of adults living in the community in Pelotas, Brazil, the PHQ-9 and EPDS were applied at the same interview and the gold standard on a median of 17 days later. The interviews were carried out at the participant's home. RESULTS: 447 Individuals (191 men and 256 women) were assessed. The PHQ-9 and the EPDS results were concordant in 87.5% of the respondents, with a moderate agreement beyond what was expected by chance alone (kappa = 0.61). The areas below the ROC curves were not statistically different (82.1% for PHQ-9 and 83.5% for EPDS) (p = 0.291), thus indicating that the two tests had similar moderate accuracy. CONCLUSIONS: PHQ-9 and EPDS may be applied with equal confidence in screening for MDE in the community.


Assuntos
Depressão Pós-Parto/diagnóstico , Transtorno Depressivo Maior/diagnóstico , Índice de Gravidade de Doença , Inquéritos e Questionários , Atividades Cotidianas , Idoso , Brasil , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Curva ROC , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
5.
BMC Res Notes ; 9(1): 453, 2016 Sep 27.
Artigo em Inglês | MEDLINE | ID: mdl-27677844

RESUMO

BACKGROUND: Major depressive episodes (MDE) are frequent at the population level and are generally associated with severe symptoms that impair performance of activities of daily living of individuals suffering from this condition. The aim of this study was to compare the accuracy of two tests that separately showed suitable properties in screening for MDE: the Patient Health Questionnaire-9 (PHQ-9) and the Edinburgh postnatal depression scale (EPDS). METHODS: In a previous study, the sensitivity and specificity of the PHQ-9 and the EPDS in screening for MDE were compared with a structured diagnostic interview conducted by psychiatrics and psychologists using the Mini International Neuropsychiatric Interview as the gold standard. In a sample of adults living in the community in Pelotas, Brazil, the PHQ-9 and EPDS were applied at the same interview and the gold standard on a median of 17 days later. The interviews were carried out at the participant's home. RESULTS: 447 individuals (191 men and 256 women) were assessed. The PHQ-9 and the EPDS results were concordant in 87.5 % of the respondents, with a moderate agreement beyond what was expected by chance alone (kappa = 0.61). The areas below the ROC curves were not statistically different (82.1 % for PHQ-9 and 83.5 % for EPDS) (p = 0.291), thus indicating that the two tests had similar moderate accuracy. CONCLUSIONS: PHQ-9 and EPDS may be applied with equal confidence in screening for MDE in the community.

6.
Fam Process ; 55(4): 713-723, 2016 12.
Artigo em Inglês | MEDLINE | ID: mdl-26519354

RESUMO

Prior research has found that humiliating marital events are associated with depression. Building on this research, the current study investigated the association between one specific humiliating marital event-discovering that one's partner had an affair-and past-year major depressive episode (MDE) in a probability sample of married or cohabiting men and women who were at high risk for depression based on the criterion that they scored below the midpoint on a measure of marital satisfaction (N = 227). Results indicate that (i) women were more likely than men to report discovering their partner had an affair in the prior 12 months; (ii) discovering a partner affair was associated with a higher prevalence of past-year MDE and a lower level of marital adjustment; and (iii) the association between discovering a partner affair and MDE remained statistically significant when holding constant demographic variables and marital adjustment. These results support continued investigation into the impact that finding out about an affair has on the mental health of the person discovering a partner affair.


Assuntos
Transtorno Depressivo Maior/epidemiologia , Relações Extramatrimoniais/psicologia , Casamento/psicologia , Adulto , Idoso , Feminino , Humanos , Masculino , Estado Civil , Pessoa de Meia-Idade , Prevalência , Estudos de Amostragem , Fatores Sexuais
7.
Soc Sci Med ; 101: 94-106, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24560229

RESUMO

Latino immigrants exhibit health declines with increasing duration in the United States, which some attribute to a loss in social status after migration or downward social mobility. Yet, research into the distribution of perceived social mobility and patterned associations to Latino health is sparse, despite extensive research to show that economic and social advancement is a key driver of voluntary migration. We investigated Latino immigrant sub-ethnic group variation in the distribution of perceived social mobility, defined as the difference between respondents' perceived social status of origin had they remained in their country of origin and their current social status in the U.S. We also examined the association between perceived social mobility and past-year major depressive episode (MDE) and self-rated fair/poor physical health, and whether Latino sub-ethnicity moderated these associations. We computed weighted logistic regression analyses using the Latino immigrant subsample (N=1561) of the National Latino and Asian American Study. Puerto Rican migrants were more likely to perceive downward social mobility relative to Mexican and Cuban immigrants who were more likely to perceive upward social mobility. Perceived downward social mobility was associated with increased odds of fair/poor physical health and MDE. Latino sub-ethnicity was a statistically significant moderator, such that perceived downward social mobility was associated with higher odds of MDE only among Puerto Rican and Other Latino immigrants. In contrast, perceived upward social mobility was not associated with self-rated fair/poor physical health. Our findings suggest that perceived downward social mobility might be an independent correlate of health among Latino immigrants, and might help explain Latino sub-ethnic group differences in mental health status. Future studies on Latino immigrant health should use prospective designs to examine the physiological and psychological costs associated with perceived changes in social status with integration into the U.S. mainland.


Assuntos
Emigrantes e Imigrantes/psicologia , Emigração e Imigração/estatística & dados numéricos , Disparidades nos Níveis de Saúde , Hispânico ou Latino/psicologia , Mobilidade Social , Adolescente , Adulto , Idoso , Cuba/etnologia , Transtorno Depressivo Maior/etnologia , Autoavaliação Diagnóstica , Emigrantes e Imigrantes/estatística & dados numéricos , Feminino , Hispânico ou Latino/estatística & dados numéricos , Humanos , Masculino , México/etnologia , Pessoa de Meia-Idade , Porto Rico/etnologia , Classe Social , Estados Unidos , Adulto Jovem
8.
Rev. colomb. psiquiatr ; 35(3): 353-362, jul.-sep. 2006. graf, tab
Artigo em Espanhol | LILACS | ID: lil-636321

RESUMO

Introducción: los trastornos de la alimentación, inicialmente considerados como prioritariamente femeninos, se encuentran igualmente en hombres. Su presentación, comorbilidades y evolución, parecen ser bastante similares a las descritas en muestras femeninas. Métodos: este trabajo presenta una serie de 21 casos con distintos cuadros de trastornos de la conducta alimentaria (TCA) y fobia a la comida. Resultados: se identifican variables comunes que pueden ayudar a la caracterización de por lo menos cuatro subtipos clínicos, tendientes a facilitar la evaluación y la intervención. Se plantean cuatro subtipos clínicos: restrictivo, impulsivo, evitativo y secundario a otras psicopatologías. Conclusiones: se discuten las implicaciones de este planteamiento.


Introduction: Eating disorders have been considered as essentially feminine, but they appear in men as well. Their presentation, comorbidities and evolution seem to be very similar to the ones in women. Methods: 21 cases of eating disorders and food phobia are described. Results: Common variables are identified that could be helpful in the characterization of at least four clinical subtypes, in order to facilitate clinical evaluation and treatment. Four clinical subtypes are presented: restrictive, impulsive, avoidant and secondary to other psychopathology. Conclusion: the implications of this outline are discussed.

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