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1.
Int J Eat Disord ; 57(4): 1002-1007, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38191854

RESUMO

INTRODUCTION: This study examines weight suppression (WS) and weight loss speed (WLS) in atypical anorexia nervosa (AN) and its implications for treatment outcomes, compared to people with AN and bulimia nervosa (BN). METHOD: A mixed cross-sectional and prospective design was employed, assessing WS and WLS in people with atypical AN, AN, and BN. Participants were matched for age, gender, age of onset, and disorder duration. Clinical measurements and eating disorders questionnaire (EDE-Q) scores were employed to evaluate the response to treatment. RESULTS: Individuals with atypical individuals exhibited WS patterns similar to AN, distinct from BN. Rapid WLS predicted clinical responses in atypical AN and BN, underscoring its treatment relevance. Atypical AN showed higher eating psychopathology scores than AN or BN, emphasizing the need for a reframed diagnosis. DISCUSSION: Understanding atypical AN's connection to restrictive behaviors and weight loss informs screening, assessment, and treatment practices. Recognition of atypical AN's severity and adoption of tailored approaches are essential for recovery. This study highlights the significance of WS and WLS in atypical AN treatment outcomes, offering insights into clinical practice and care. The proposal to reframe atypical AN as a restrictive eating disorder emphasizes its clinical relevance. PUBLIC SIGNIFICANCE STATEMENT: The phenomenon of weight suppression, involving the discrepancy between past highest weight and current weight, has garnered attention due to cultural pressures emphasizing fitness and appearance. This study focuses on its implications in atypical anorexia nervosa, aiming to uncover the relationship between WS, its speed, and treatment outcomes. The investigation contributes insights into tailored interventions for atypical anorexia nervosa and enriches the understanding of this complex disorder's dynamics.


Assuntos
Anorexia Nervosa , Bulimia Nervosa , Humanos , Anorexia Nervosa/diagnóstico , Anorexia Nervosa/terapia , Peso Corporal/fisiologia , Estudos Transversais , Pacientes Internados , Pontuação de Propensão , Redução de Peso/fisiologia , Bulimia Nervosa/diagnóstico , Bulimia Nervosa/terapia
2.
Int J Mol Sci ; 24(24)2023 Dec 18.
Artigo em Inglês | MEDLINE | ID: mdl-38139446

RESUMO

Excessive predominance of pathological species in the gut microbiota could increase the production of inflammatory mediators at the gut level and, via modification of the gut-blood barrier, at the systemic level. This pro-inflammatory state could, in turn, increase biological aging that is generally proxied by telomere shortening. In this study, we present findings from a secondary interaction analysis of gut microbiota, aging, and inflammatory marker data from a cohort of patients with different diagnoses of severe mental disorders. We analyzed 15 controls, 35 patients with schizophrenia (SCZ), and 31 patients with major depressive disorder (MDD) recruited among those attending a community mental health center (50 males and 31 females, mean and median age 46.8 and 46.3 years, respectively). We performed 16S rRNA sequencing as well as measurement of telomere length via quantitative fluorescence in situ hybridization and high-sensitivity C-reactive protein. We applied statistical modeling with logistic regression to test for interaction between gut microbiota and these markers. Our results showed statistically significant interactions between telomere length and gut microbiota pointing to the genus Lachnostridium, which remained significantly associated with a reduced likelihood of MDD even after adjustment for a series of covariates. Although exploratory, these findings show that specific gut microbiota signatures overexpressing Lachnoclostridium and interacting with biological aging could modulate the liability for MDD.


Assuntos
Transtorno Depressivo Maior , Microbioma Gastrointestinal , Masculino , Feminino , Humanos , Microbioma Gastrointestinal/genética , Transtorno Depressivo Maior/metabolismo , RNA Ribossômico 16S/genética , RNA Ribossômico 16S/análise , Hibridização in Situ Fluorescente , Envelhecimento/genética , Clostridiales
3.
Eat Disord ; 31(4): 337-352, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36271711

RESUMO

Treatment outcomes in eating disorders (EDs) are still an open field for clinicians and researchers. Besides difficulties in egosyntonic-linked treatment engagements, dropout is one of the most crucial elements that cause a reduction in the treatment efficacy. Thus, the aim of this study is to evaluate factors that could contribute to high dropout rates and non-participation in follow-up evaluation in patients with ED. This study used a large sample of patients from a specialized ED ward and day hospital (DH). A sample of 428 individuals was recruited for this study. Psychological and demographic data were collected at the time of hospitalization and discharge from the facilities. These data were used to explore a possible link between dropout and follow-up non-participation. Specially, the random forest was used to rank demographic and psychological features in importance and evaluate the top results with regression analyses for statistical significance. A dropout rate of 12.14% during inpatient and DH treatment was found. Anger-hostility and general psychopathology were found to be predictors of dropout during treatment, while the duration of the hospitalization predicted non-participation at the six-month follow-up. Specific psychological features should be considered before and during treatments for patients with EDs to reduce dropout rates. The duration of the hospitalization should also be evaluated as a relevant healthcare element that could affect engagement and, accordingly, outcome.


Assuntos
Transtornos da Alimentação e da Ingestão de Alimentos , Pacientes Desistentes do Tratamento , Humanos , Seguimentos , Pacientes Desistentes do Tratamento/psicologia , Transtornos da Alimentação e da Ingestão de Alimentos/terapia , Resultado do Tratamento , Estudos Longitudinais
4.
Int J Psychiatry Clin Pract ; 27(4): 323-329, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37293936

RESUMO

OBJECTIVE: The COVID-19 pandemic overwhelmed eating disorder (ED) services worldwide. Data suggests a worsening of psychopathology and an increased request for specialised treatments. Still, the studies are mostly based on experimental protocols with underpowered short-term opportunistic experimental designs. Thus, this study aims to assess the clinical and psychological differences between patients admitted to a specialised ED Unit before and after the COVID-19 breakout. METHODS: Consecutive patients admitted from June 2014 to February 2022 in a specialised EDs Unit were enrolled. A total sample of 498 individuals was enrolled in this retrospective study, collecting demographic and psychopathological data at admission. RESULTS: An increase in the admission of patients with anorexia nervosa has been reported, with lower age and higher levels of specific and general psychopathology, especially linked to body uneasiness. CONCLUSIONS: Results are put into the context of the preparation for the next pandemic that may require similar mitigation measures as COVID-19 to ensure the impact on existing and new patients. Covering an extended period with validated tools, our results might help psychiatric services to reassess their treatment pathways after the pandemic, helping clinicians to delineate future treatment interventions.KEYPOINTSAfter the COVID-19 breakdown, there was an increase in the admission of patients with anorexia nervosa to specialised services.More severe psychopathology was not accompanied by lower body mass index.Specialised eating disorders services should face sudden changes in patients' requests for treatment.Understanding the impact of the Covid-19 pandemic and the resulting mitigation measures taken can lead to better preparations for the next pandemic.


Assuntos
COVID-19 , Transtornos da Alimentação e da Ingestão de Alimentos , Humanos , Pandemias , Pacientes Internados , Estudos Retrospectivos
5.
Eat Weight Disord ; 26(3): 869-877, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32430886

RESUMO

PURPOSE: The aim of the study was to assess the differences between impulsive and non-impulsive patients in response to a multidisciplinary intensive inpatient treatment for eating disorders (EDs). METHODS: 320 patients with EDs were consecutively recruited in an eating disorders unit (EDU). They were assessed by clinical interviews and self-reported questionnaires. The treatment was characterized by a patient-centric approach and included both an intensive and comprehensive standardized multidisciplinary program based on cognitive-behavioral therapy and a flexible and personalized component according to the needs and the history of each patient. RESULTS: Impulsive ED patients showed greater improvement in specific psychopathological areas, in particular: interpersonal sensitivity of Symptom Checklist-90 (SCL-90) (p = 0.007); Eating Disorder Examination Questionnaire (EDE-Q) Global Score (p = 0.009), EDE-Q eating concern (p < 0.001) and EDE-Q shape concern (p = 0.025). The two groups also showed a different pattern on the Body Uneasiness Test, with impulsive patients uniquely showing improvement on Global Severity Index (p = 0.006), body image concern (p = 0.008), compulsive self monitoring (p = 0.002), and weight phobia (p = 0.037). DISCUSSION: Results support the hypothesis that patients with impulsive behaviors might benefit from treatments characterized by a standardized cognitive behavioral therapy implemented by third-wave interventions according to each patient's clinical profile. Personalized treatment approaches could be an answer to the complexity of ED, addressing individual psychopathology. Further studies are needed to confirm these preliminary findings. LEVEL OF EVIDENCE: III, cohort or case-control analytic studies.


Assuntos
Transtornos da Alimentação e da Ingestão de Alimentos , Pacientes Internados , Transtornos da Alimentação e da Ingestão de Alimentos/terapia , Humanos , Comportamento Impulsivo , Psicometria , Inquéritos e Questionários
6.
Eur Eat Disord Rev ; 28(5): 587-593, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32372472

RESUMO

OBJECTIVE: There is growing evidence that vitamin D levels have a role not only in bone health and energy metabolism, but also for supporting nervous system and brain functions, including impulsivity. Impulsive behaviours are considered characteristics of great relevance in patients with Eating Disorders (ED) both for the course of the illness and for the treatment. The aim of this study is to examine the relationship between impulsive behaviours and vitamin D in patients with ED. METHOD: 236 patients with a diagnosis of ED, consecutively recruited at an ED ward between 2014 and 2018, were enrolled. Patients were classified as impulsive or non-impulsive based on the presence of clinically relevant impulsive behaviours. RESULTS: Impulsive patients were found to have statistically significant lower levels of vitamin D than non-impulsive (p = .007). A threshold value of 20.4 ng/ml for discriminating impulsive from non-impulsive patients was found. DISCUSSION: This hypothesis generating study partially confirmed a relationship between vitamin D deficiency and impulsive behaviours in ED spectrum mediated by body weight, even if results were not confirmed after corrected by obesity. No definitive conclusion may be taken on whether the effect is reduced due to the loss of power. Future directions are discussed.


Assuntos
Transtornos da Alimentação e da Ingestão de Alimentos/sangue , Transtornos da Alimentação e da Ingestão de Alimentos/psicologia , Comportamento Impulsivo , Vitamina D/sangue , Adolescente , Adulto , Transtornos da Alimentação e da Ingestão de Alimentos/terapia , Feminino , Humanos , Estudos Longitudinais , Masculino , Projetos Piloto , Deficiência de Vitamina D/psicologia , Adulto Jovem
7.
Br J Psychiatry ; 211(2): 70-76, 2017 08.
Artigo em Inglês | MEDLINE | ID: mdl-28642257

RESUMO

BackgroundDepression and obesity are highly prevalent, and major impacts on public health frequently co-occur. Recently, we reported that having depression moderates the effect of the FTO gene, suggesting its implication in the association between depression and obesity.AimsTo confirm these findings by investigating the FTO polymorphism rs9939609 in new cohorts, and subsequently in a meta-analysis.MethodThe sample consists of 6902 individuals with depression and 6799 controls from three replication cohorts and two original discovery cohorts. Linear regression models were performed to test for association between rs9939609 and body mass index (BMI), and for the interaction between rs9939609 and depression status for an effect on BMI. Fixed and random effects meta-analyses were performed using METASOFT.ResultsIn the replication cohorts, we observed a significant interaction between FTO, BMI and depression with fixed effects meta-analysis (ß = 0.12, P = 2.7 × 10-4) and with the Han/Eskin random effects method (P = 1.4 × 10-7) but not with traditional random effects (ß = 0.1, P = 0.35). When combined with the discovery cohorts, random effects meta-analysis also supports the interaction (ß = 0.12, P = 0.027) being highly significant based on the Han/Eskin model (P = 6.9 × 10-8). On average, carriers of the risk allele who have depression have a 2.2% higher BMI for each risk allele, over and above the main effect of FTOConclusionsThis meta-analysis provides additional support for a significant interaction between FTO, depression and BMI, indicating that depression increases the effect of FTO on BMI. The findings provide a useful starting point in understanding the biological mechanism involved in the association between obesity and depression.


Assuntos
Dioxigenase FTO Dependente de alfa-Cetoglutarato/genética , Índice de Massa Corporal , Transtorno Depressivo Maior/epidemiologia , Transtorno Depressivo Maior/genética , Obesidade/epidemiologia , Obesidade/genética , Alelos , Estudos de Casos e Controles , Comorbidade , Predisposição Genética para Doença/genética , Humanos , Polimorfismo Genético/genética
8.
BMC Med Genet ; 15: 2, 2014 Jan 04.
Artigo em Inglês | MEDLINE | ID: mdl-24387768

RESUMO

BACKGROUND: Recently, genome-wide association studies (GWAS) for cases versus controls using single nucleotide polymorphism microarray data have shown promising findings for complex neuropsychiatric disorders, including bipolar disorder (BD). METHODS: Here we describe a comprehensive genome-wide study of bipolar disorder (BD), cross-referencing analysis from a family-based study of 229 small families with association analysis from over 950 cases and 950 ethnicity-matched controls from the UK and Canada. Further, loci identified in these analyses were supported by pathways identified through pathway analysis on the samples. RESULTS: Although no genome-wide significant markers were identified, the combined GWAS findings have pointed to several genes of interest that support GWAS findings for BD from other groups or consortia, such as at SYNE1 on 6q25, PPP2R2C on 4p16.1, ZNF659 on 3p24.3, CNTNAP5 (2q14.3), and CDH13 (16q23.3). This apparent corroboration across multiple sites gives much confidence to the likelihood of genetic involvement in BD at these loci. In particular, our two-stage strategy found association in both our combined case/control analysis and the family-based analysis on 1q21.2 (closest gene: sphingosine-1-phosphate receptor 1 gene, S1PR1) and on 1q24.1 near the gene TMCO1, and at CSMD1 on 8p23.2, supporting several previous GWAS reports for BD and for schizophrenia. Pathway analysis suggests association of pathways involved in calcium signalling, neuropathic pain signalling, CREB signalling in neurons, glutamate receptor signalling and axonal guidance signalling. CONCLUSIONS: The findings presented here show support for a number of genes previously implicated genes in the etiology of BD, including CSMD1 and SYNE1, as well as evidence for previously unreported genes such as the brain-expressed genes ADCY2, NCALD, WDR60, SCN7A and SPAG16.


Assuntos
Transtorno Bipolar/genética , Loci Gênicos/genética , Estudo de Associação Genômica Ampla , Proteínas de Membrana/genética , Proteínas do Tecido Nervoso/genética , Proteínas Nucleares/genética , Canadá , Estudos de Coortes , Proteínas do Citoesqueleto , Genótipo , Humanos , Linhagem , Reprodutibilidade dos Testes , Proteínas Supressoras de Tumor , Reino Unido , Adulto Jovem
9.
Am J Med Genet B Neuropsychiatr Genet ; 162B(6): 521-9, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23857890

RESUMO

Stressful life events are an established trigger for depression and may contribute to the heterogeneity within genome-wide association analyses. With depression cases showing an excess of exposure to stressful events compared to controls, there is difficulty in distinguishing between "true" cases and a "normal" response to a stressful environment. This potential contamination of cases, and that from genetically at risk controls that have not yet experienced environmental triggers for onset, may reduce the power of studies to detect causal variants. In the RADIANT sample of 3,690 European individuals, we used propensity score matching to pair cases and controls on exposure to stressful life events. In 805 case-control pairs matched on stressful life event, we tested the influence of 457,670 common genetic variants on the propensity to depression under comparable level of adversity with a sign test. While this analysis produced no significant findings after genome-wide correction for multiple testing, we outline a novel methodology and perspective for providing environmental context in genetic studies. We recommend contextualizing depression by incorporating environmental exposure into genome-wide analyses as a complementary approach to testing gene-environment interactions. Possible explanations for negative findings include a lack of statistical power due to small sample size and conditional effects, resulting from the low rate of adequate matching. Our findings underscore the importance of collecting information on environmental risk factors in studies of depression and other complex phenotypes, so that sufficient sample sizes are available to investigate their effect in genome-wide association analysis.


Assuntos
Transtorno Depressivo Maior/genética , Interação Gene-Ambiente , Estudo de Associação Genômica Ampla , Acontecimentos que Mudam a Vida , Pontuação de Propensão , Adulto , Estudos de Casos e Controles , Feminino , Predisposição Genética para Doença , Humanos , Masculino , Fenótipo , Fatores de Risco
10.
Proc Natl Acad Sci U S A ; 106(18): 7501-6, 2009 May 05.
Artigo em Inglês | MEDLINE | ID: mdl-19416921

RESUMO

Bipolar disorder (BP) is a disabling and often life-threatening disorder that affects approximately 1% of the population worldwide. To identify genetic variants that increase the risk of BP, we genotyped on the Illumina HumanHap550 Beadchip 2,076 bipolar cases and 1,676 controls of European ancestry from the National Institute of Mental Health Human Genetics Initiative Repository, and the Prechter Repository and samples collected in London, Toronto, and Dundee. We imputed SNP genotypes and tested for SNP-BP association in each sample and then performed meta-analysis across samples. The strongest association P value for this 2-study meta-analysis was 2.4 x 10(-6). We next imputed SNP genotypes and tested for SNP-BP association based on the publicly available Affymetrix 500K genotype data from the Wellcome Trust Case Control Consortium for 1,868 BP cases and a reference set of 12,831 individuals. A 3-study meta-analysis of 3,683 nonoverlapping cases and 14,507 extended controls on >2.3 M genotyped and imputed SNPs resulted in 3 chromosomal regions with association P approximately 10(-7): 1p31.1 (no known genes), 3p21 (>25 known genes), and 5q15 (MCTP1). The most strongly associated nonsynonymous SNP rs1042779 (OR = 1.19, P = 1.8 x 10(-7)) is in the ITIH1 gene on chromosome 3, with other strongly associated nonsynonymous SNPs in GNL3, NEK4, and ITIH3. Thus, these chromosomal regions harbor genes implicated in cell cycle, neurogenesis, neuroplasticity, and neurosignaling. In addition, we replicated the reported ANK3 association results for SNP rs10994336 in the nonoverlapping GSK sample (OR = 1.37, P = 0.042). Although these results are promising, analysis of additional samples will be required to confirm that variant(s) in these regions influence BP risk.


Assuntos
Transtorno Bipolar/genética , Cromossomos Humanos Par 1/genética , Cromossomos Humanos Par 3/genética , Cromossomos Humanos Par 5/genética , Genoma Humano , Europa (Continente) , Estudo de Associação Genômica Ampla , Humanos
11.
Am J Med Genet B Neuropsychiatr Genet ; 159B(7): 859-68, 2012 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-22915352

RESUMO

Genome-wide studies in major depression have identified few replicated associations, potentially due to heterogeneity within the disorder. Several studies have suggested that age at onset (AAO) can distinguish sub-types of depression with specific heritable components. This paper investigates the role of AAO in the genetic susceptibility for depression using genome-wide association data on 2,746 cases and 1,594 screened controls from the RADIANT studies, with replication performed in 1,471 cases and 1,403 controls from two Munich studies. Three methods were used to analyze AAO: First a time-to-event analysis with controls censored, secondly comparing controls to case-subsets defined using AAO cut-offs, and lastly analyzing AAO as a quantitative trait. In the time-to-event analysis three SNPs reached suggestive significance (P < 5E-06), overlapping with the original case-control analysis of this study. In a case-control analysis using AAO thresholds, SNPs in 10 genomic regions showed suggestive association though again none reached genome-wide significance. Lastly, case-only analysis of AAO as a quantitative trait resulted in 5 SNPs reaching suggestive significance. Sex specific analysis was performed as a secondary analysis, yielding one SNP reaching genome-wide significance in early-onset males. No SNPs achieved significance in the replication study after correction for multiple testing. Analysis of AAO as a quantitative trait did suggest that, across all SNPs, common genetic variants explained a large proportion of the variance (51%, P = 0.04). This study provides the first focussed analysis of the genetic contribution to AAO in depression, and establishes a statistical framework that can be applied to a quantitative trait underlying any disorder.


Assuntos
Transtorno Depressivo Maior/epidemiologia , Transtorno Depressivo Maior/genética , Heterogeneidade Genética , Adulto , Idade de Início , Estudos de Casos e Controles , Transtorno Depressivo Maior/psicologia , Feminino , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Genótipo , Humanos , Masculino , Fenótipo , Polimorfismo de Nucleotídeo Único
12.
Artigo em Inglês | MEDLINE | ID: mdl-35564381

RESUMO

The aim of our study was to evaluate the potential association between physical activity and occupational stress among firefighters. Data were collected from Cypriot firefighters through a web-based battery of internationally validated questionnaires completed anonymously (COPSOQ, DASS). A total of 430 firefighters (response rate 68%) completed the survey (age range: 21-60 years). More than half of the firefighters (54%) reported either no or minimal physical activity. A total of 11% of firefighters reported moderate to extremely severe stress based on the DASS-S scale. Using multivariable-adjusted logistic regression models, we showed that firefighters who exercised had 50% lower risk of occupational stress, and using a categorical model, we found that every hour per week of increased physical activity among firefighters was associated with 16% lower risk of occupational stress after adjusting for age, education, smoking, and body mass index (OR = 1.16; p = 0.05). In addition, our findings suggest an inverse dose-response relationship between physical activity and occupational stress among firefighters. Physical activity appears to be inversely associated with occupational stress and serves as an important mitigating factor of occupational stress in firefighters. Further research is warranted to evaluate the potential effect of exercise interventions on occupational stress, and the overall mental health of firefighters and other occupational groups.


Assuntos
Bombeiros , Saúde Ocupacional , Estresse Ocupacional , Adulto , Índice de Massa Corporal , Bombeiros/psicologia , Humanos , Saúde Mental , Pessoa de Meia-Idade , Estresse Ocupacional/epidemiologia , Estresse Ocupacional/psicologia , Inquéritos e Questionários , Adulto Jovem
13.
Cardiooncology ; 8(1): 16, 2022 Sep 07.
Artigo em Inglês | MEDLINE | ID: mdl-36071532

RESUMO

Breast cancer patients are at a particularly high risk of cardiotoxicity from chemotherapy having a detrimental effect on quality-of-life parameters and increasing the risk of mortality. Prognostic biomarkers would allow the management of therapies to mitigate the risks of cardiotoxicity in vulnerable patients and a key potential candidate for such biomarkers are microRNAs (miRNA). miRNAs are post-transcriptional regulators of gene expression which can also be released into the circulatory system and have been associated with the progression of many chronic diseases including many types of cancer. In this review, the evidence for the potential application of miRNAs as biomarkers for chemotherapy-induced cardiotoxicity (CIC) in breast cancer patientsis evaluated and a simple meta-analysis is performed to confirm the replication status of each reported miRNA. Further selection of miRNAs is performed by reviewing the reported associations of each miRNA with other cardiovascular conditions. Based on this research, the most representative panels targeting specific chemotherapy agents and treatment regimens are suggested, that contain several informative miRNAs, including both general markers of cardiac damage as well as those for the specific cancer treatments.

14.
Psychiatry Res ; 185(1-2): 27-32, 2011 Jan 30.
Artigo em Inglês | MEDLINE | ID: mdl-20580841

RESUMO

The aim of this study was to identify whether age at onset (AAO) identifies Bipolar Disorder (BD) subtypes, and to test whether the subgroups were confirmed by different clinical profiles. Admixture analysis was applied to determine a model that best fit the observed distribution of AAO in 964 BD patients. Three distributions of AAO were identified, and age means were 16.1 (S.D. 4.2), 25.4 (S.D. 2.5) and 32.2 (S.D. 9.5) years. A significant increased rate of suicide attempts, Bipolar I (BD I) caseness, and depressive onset was observed in the early-onset group when compared to those with later-onset by means of χ². Findings from extant studies and our results are remarkably consistent in showing that BD can be subdivided into three groups based on AAO distributions, and that early-onset is associated with higher rates of suicide attempts.


Assuntos
Idade de Início , Transtorno Bipolar/epidemiologia , Adolescente , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Distribuição de Qui-Quadrado , Comparação Transcultural , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fatores Sexuais , Adulto Jovem
15.
Am J Med Genet B Neuropsychiatr Genet ; 153B(8): 1465-73, 2010 Dec 05.
Artigo em Inglês | MEDLINE | ID: mdl-20886545

RESUMO

Suicidal behavior is commonly associated with depression. Twin studies indicate that both suicidality and major depressive disorder (MDD) are heritable. However, epidemiological evidence suggests that the inheritance of suicidality is likely to be independent of the underlying psychiatric disorder, implying a distinct genetic contribution to suicidality. We conducted a genomewide linkage search aiming to detect genomic loci that may harbor susceptibility genes contributing to risk for suicidality in recurrent MDD. Affected sibling pair (ASP) variance components analysis was performed using the Depression Network cohort of 971 ASPs. The quantitative trait measuring suicidality as a broad phenotype, encompassing ideation and suicide attempts, was established from Schedules for Clinical Assessment in Neuropsychiatry interview items. We examined 1,060 genotyped microsatellite markers with an average spacing of 3.3 cM. Empirical thresholds for linkage evidence were set by whole-genome simulations (LOD = 2.71 for genomewide significance, 1.71 for suggestive linkage). No genomewide significant findings were found. Marker D3S1234 on 3p14 achieved suggestive linkage and yielded a maximum LOD of 1.853 (P = 0.0017), loci 9p24.3 and 18q22-q23 achieved LOD scores >1.5. We found some support for linkage to 2p12 (LOD = 1.2, P = 0.0087) which was previously implicated in linkage studies of suicidality. Our follow-up meta-analysis of five studies showed strong linkage to this region (P = 2 × 10(-6) ). In conclusion, this study analyzed suicidality as a continuous trait in MDD. We found modest evidence for linkage on 3p14. Our meta-analysis supports previous evidence of linkage to suicidality on 2p12. Some candidate genes in these regions may plausibly be implicated in suicidality. © 2010 Wiley-Liss, Inc.


Assuntos
Cromossomos Humanos Par 2/genética , Transtorno Depressivo Maior/genética , Ligação Genética , Ideação Suicida , Tentativa de Suicídio , Adulto , Idade de Início , Mapeamento Cromossômico , Feminino , Marcadores Genéticos/genética , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Genótipo , Humanos , Escore Lod , Masculino , Repetições de Microssatélites , Pessoa de Meia-Idade , Fenótipo , Fatores de Risco , Irmãos
16.
Am J Med Genet B Neuropsychiatr Genet ; 153B(7): 1298-304, 2010 Oct 05.
Artigo em Inglês | MEDLINE | ID: mdl-20552676

RESUMO

Bipolar disorder (BD) is a complex genetic disease for which the underlying pathophysiology has yet to be fully explained. 5,10-Methylenetetrahydrofolate reductase (MTHFR) is a crucial enzyme in folate-mediated one-carbon metabolism and folate deficiency can be associated with psychiatric symptoms. A single base variant in MTHFR gene (C677T) results in the production of a mildly dysfunctional thermolabile enzyme and has recently been implicated in BD. We conducted an association study of this polymorphism in 897 patients with bipolar I or bipolar II disorder, and 1,687 healthy control subjects. We found no evidence for genotypic or allelic association in this sample. We also performed a meta-analysis of our own, and all published data, and report no evidence for association. Our findings suggest that the MTHFR C677T polymorphism is not involved in the genetic etiology of clinically significant BD.


Assuntos
Transtorno Bipolar/genética , Estudos de Associação Genética , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Alelos , Transtorno Bipolar/epidemiologia , Transtorno Bipolar/etiologia , Estudos de Casos e Controles , Estudos de Associação Genética/métodos , Genótipo , Humanos , Polimorfismo de Nucleotídeo Único
17.
BMC Psychiatry ; 9: 9, 2009 Mar 17.
Artigo em Inglês | MEDLINE | ID: mdl-19292899

RESUMO

BACKGROUND: The Psychiatric arm of the population-based CoLaus study (PsyCoLaus) is designed to: 1) establish the prevalence of threshold and subthreshold psychiatric syndromes in the 35 to 66 year-old population of the city of Lausanne (Switzerland); 2) test the validity of postulated definitions for subthreshold mood and anxiety syndromes; 3) determine the associations between psychiatric disorders, personality traits and cardiovascular diseases (CVD), 4) identify genetic variants that can modify the risk for psychiatric disorders and determine whether genetic risk factors are shared between psychiatric disorders and CVD. This paper presents the method as well as sociodemographic and somatic characteristics of the sample. METHODS: All 35 to 66 year-old persons previously selected for the population-based CoLaus survey on risk factors for CVD were asked to participate in a substudy assessing psychiatric conditions. This investigation included the Diagnostic Interview for Genetic Studies to elicit diagnostic criteria for threshold disorders according to DSM-IV and algorithmically defined subthreshold syndromes. Complementary information was collected on potential risk and protective factors for psychiatric disorders, migraine and on the morbidity of first-degree relatives, whereas the collection of DNA and plasma samples was already part of the original CoLaus survey. RESULTS: A total of 3,691 individuals completed the psychiatric evaluation (67% participation). The gender distribution of the sample did not differ significantly from that of the general population in the same age range. Although the youngest 5-year band of the cohort was underrepresented and the oldest 5-year band overrepresented, participants of PsyCoLaus and individuals who refused to participate revealed comparable scores on the General Health Questionnaire, a self-rating instrument completed at the somatic exam. CONCLUSION: Despite limitations resulting from the relatively low participation in the context of a comprehensive and time-consuming investigation, the PsyCoLaus study should significantly contribute to the current understanding of psychiatric disorders and comorbid somatic conditions by: 1) establishing the clinical relevance of specific psychiatric syndromes below the DSM-IV threshold; 2) determining comorbidity between risk factors for CVD and psychiatric disorders; 3) assessing genetic variants associated with common psychiatric disorders and 4) identifying DNA markers shared between CVD and psychiatric disorders.


Assuntos
Doenças Cardiovasculares/epidemiologia , Variação Genética , Transtornos Mentais/epidemiologia , Vigilância da População/métodos , Adulto , Distribuição por Idade , Idoso , Biomarcadores/análise , Comorbidade , Estudos Transversais , Saúde da Família , Estudos de Viabilidade , Feminino , Humanos , Masculino , Transtornos Mentais/diagnóstico , Transtornos Mentais/genética , Pessoa de Meia-Idade , Personalidade , Fatores de Risco , Suíça/epidemiologia
18.
Am J Med Genet B Neuropsychiatr Genet ; 150B(6): 836-44, 2009 Sep 05.
Artigo em Inglês | MEDLINE | ID: mdl-19089808

RESUMO

Recent studies suggest a degree of overlap in genetic susceptibility across the traditional categories of schizophrenia and bipolar disorder. There is some evidence for an association of the dystrobrevin binding protein 1 gene (DTNBP1) with schizophrenia, and, thus, this gene has also become a focus of further investigation in bipolar disorder (BD). The aim of our study is to explore the association of DTNBP1 with BD and with a sub phenotype, presence/absence of psychotic symptoms, in a sample of 515 patients with BD (ICD10/DSMIV) and 1,316 ethnically matched control subjects recruited from the UK. Seven DTNBP1 SNPs: rs2743852 (SNP C), rs760761 (P1320), rs1011313 (P1325), rs3213207 (P1635), rs2619539 (P1655), rs16876571 and rs17470454 were investigated using the SNPlex genotyping system and 1 SNP (rs2619522) genotypes were imputed. Association analyses were conducted in a sample of 452 cases and 956 controls. We found significant differences in genotypic and allelic frequencies of rs3213207 and rs760761 of DTNBP1 between bipolar patients and controls. We also showed a global haplotypic association and an association of a particular haplotype with BD. Our results are consistent with previous studies in term of a general association between DTNBP1 and bipolar disorder and provide additional evidence that a portion of the genotypic overlap between schizophrenia and bipolar affective disorder is attributable to this gene.


Assuntos
Transtorno Bipolar/genética , Proteínas de Transporte/genética , Predisposição Genética para Doença , Adulto , Alelos , Estudos de Casos e Controles , Disbindina , Proteínas Associadas à Distrofina , Feminino , Frequência do Gene , Genótipo , Haplótipos , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Esquizofrenia/genética
19.
J Occup Environ Med ; 61(8): e348-e353, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31348420

RESUMO

OBJECTIVE: Investigate psychological distress and its link to stress management interventions in the financial industry (FI) in comparison to the human services (HS) sector. METHOD: Observational study across participating organizations in FI (66) and HS (81). Web-based version of depression anxiety stress scales (21 questions) and eight questions related to stress prevention interventions adopted by employers. RESULTS: Indicated that FI workers are twice as likely as HS employees to present with stress and depression. Differences emerged on the availability of support at the workplace: FI workers reporting total lack of psychological support, although other forms of wellbeing promotion were more frequent. Close to 60% of individuals in the HS group reported no support (48% in the FI). CONCLUSION: Workers in the FI industry have increased levels of workplace stress that could be possibly attributed to absence of prevention interventions at the workplace.


Assuntos
Indústrias , Doenças Profissionais/epidemiologia , Doenças Profissionais/terapia , Serviços de Saúde do Trabalhador , Angústia Psicológica , Adulto , Ansiedade/diagnóstico , Ansiedade/epidemiologia , Ansiedade/terapia , Efeitos Psicossociais da Doença , Chipre/epidemiologia , Depressão/diagnóstico , Depressão/epidemiologia , Depressão/terapia , Feminino , Administração Financeira , Bombeiros/psicologia , Inquéritos Epidemiológicos , Humanos , Masculino , Pessoa de Meia-Idade , Enfermeiras e Enfermeiros/psicologia , Doenças Profissionais/psicologia , Estresse Ocupacional/prevenção & controle , Estresse Ocupacional/psicologia , Recursos Humanos em Hospital/psicologia , Projetos Piloto , Prevalência , Fatores de Risco
20.
JMIR Pediatr Parent ; 1(1): e5, 2018 May 10.
Artigo em Inglês | MEDLINE | ID: mdl-31518330

RESUMO

BACKGROUND: Advances in technology are progressively more relevant to the clinical practice of psychology and mental health services generally. Studies indicate that technology facilitates the delivery of interventions, such as cognitive behavioral therapy, in the treatment of psychological disorders in adults, such as depression, anxiety, obsessive-compulsive disorder, panic symptoms, and eating disorders. Fewer data exist for computer-based (stand-alone, self-help) and computer-assisted (in combination with face-to-face therapy, or therapist guided) programs for youth. OBJECTIVE: Our objective was to summarize and critically review the literature evaluating the acceptability and efficacy of using technology with treatment and prevention programs for anxiety in young children and adolescents. The aim was to improve the understanding of what would be critical for future development of effective technology-based interventions. METHODS: We conducted an exploratory review of the literature through searches in 3 scientific electronic databases (PsycINFO, ScienceDirect, and PubMed). We used keywords in various combinations: child or children, adolescent, preschool children, anxiety, intervention or treatment or program, smartphone applications or apps, online or Web-based tool, computer-based tool, internet-based tool, serious games, cognitive behavioral therapy or CBT, biofeedback, and mindfulness. For inclusion, articles had to (1) employ a technological therapeutic tool with or without the guidance of a therapist; (2) be specific for treatment or prevention of anxiety disorders in children or adolescents; (3) be published between 2000 and 2018; and (4) be published in English and in scientific peer-reviewed journals. RESULTS: We identified and examined 197 articles deemed to be relevant. Of these, we excluded 164 because they did not satisfy 1 or more of the requirements. The final review comprised 19 programs. Published studies demonstrated promising results in reducing anxiety, especially relative to the application of cognitive behavioral therapy with technology. For those programs demonstrating efficacy, no difference was noted when compared with traditional interventions. Other approaches have been applied to technology-based interventions with inconclusive results. Most programs were developed to be used concurrently with traditional treatments and lacked long-term evaluation. Very little has been done in terms of prevention interventions. CONCLUSIONS: Future development of eHealth programs for anxiety management in children will have to address several unmet needs and overcome key challenges. Although developmental stages may limit the applicability to preschool children, prevention should start in early ages. Self-help formats and personalization are highly relevant for large-scale dissemination. Automated data collection should be built in for program evaluation and effectiveness assessment. And finally, a strategy to stimulate motivation to play and maintain high adherence should be carefully considered.

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