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1.
Sensors (Basel) ; 21(14)2021 Jul 20.
Artigo em Inglês | MEDLINE | ID: mdl-34300670

RESUMO

Conventional lung auscultation is essential in the management of respiratory diseases. However, detecting adventitious sounds outside medical facilities remains challenging. We assessed the feasibility of lung auscultation using the smartphone built-in microphone in real-world clinical practice. We recruited 134 patients (median[interquartile range] 16[11-22.25]y; 54% male; 31% cystic fibrosis, 29% other respiratory diseases, 28% asthma; 12% no respiratory diseases) at the Pediatrics and Pulmonology departments of a tertiary hospital. First, clinicians performed conventional auscultation with analog stethoscopes at 4 locations (trachea, right anterior chest, right and left lung bases), and documented any adventitious sounds. Then, smartphone auscultation was recorded twice in the same four locations. The recordings (n = 1060) were classified by two annotators. Seventy-three percent of recordings had quality (obtained in 92% of the participants), with the quality proportion being higher at the trachea (82%) and in the children's group (75%). Adventitious sounds were present in only 35% of the participants and 14% of the recordings, which may have contributed to the fair agreement between conventional and smartphone auscultation (85%; k = 0.35(95% CI 0.26-0.44)). Our results show that smartphone auscultation was feasible, but further investigation is required to improve its agreement with conventional auscultation.


Assuntos
Sons Respiratórios , Smartphone , Auscultação , Criança , Estudos de Viabilidade , Feminino , Humanos , Pulmão , Masculino , Sons Respiratórios/diagnóstico
2.
Environ Manage ; 67(4): 698-716, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33439303

RESUMO

The ability of communities to react to risks and disturbances is for their balance, development, and sustainability. The concept of resilience provides a way to think about policies and actions for future changes in socioeconomic and ecological-environmental systems. This paper analyzes, in the context of mining, the perception of the resilience of Canaã dos Carajás population in Pará State, Brazilian Amazon. The methodology involved face-to-face interviews based on a structured questionnaire conducted on a sample of 140 residents stratified from 11 social actors in the Canaã community. This approach allowed the evaluation of resilience perception using 26 interview statements derived from six resilience theories. Our multivariate analysis found that the level of residents' perception of resilience was reasonable (with an average score of 3.04 ± 0.22 using a Likert scale, with a Cronbach's alpha of 0.788). The interviewees pointed out one positive and five negative factors that influenced the level of resilience in Canaã. According to residents' perceptions, the resilience of Canaã dos Carajás was moderate but could have been improved with more economic diversification, more infrastructure, and less inequality in access to services and participation in decision-making. The considered most relevant themes were problems caused by mining in the municipality, quality of life issues, difficulties dealing with change after the arrival of mining, and economic problems. This study contributes to the literature because it used theories as a conceptual orientation for the development of a resilience scale to measure resilience at the community level in the context of large-scale mining.


Assuntos
Mineração , Qualidade de Vida , Brasil , Ecossistema , Percepção
3.
Eur J Public Health ; 30(3): 573-578, 2020 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-31821479

RESUMO

BACKGROUND: The Global Burden of Disease study has generated a wealth of data on death and disability in Europe. At a time of change for the European Union and European Region of WHO, with a new Health Commissioner and Regional Director, respectively, a review of health trends can contribute to identify outstanding needs and gaps. This paper reports a summary of the burden of disease in the European Union (EU) in 2017 (compared with 2007). METHODS: For the whole EU and each country, mortality by causes of death, disability-adjusted life years (DALYs) and life expectancies are reported. RESULTS: In 2017, the age-standardized mortality and DALY rates were of 452.6 and 19 663.3 per 100 000 inhabitants, respectively. The diseases contributing most to mortality were ischaemic heart disease (IHD), dementias and stroke, while low back pain and IHD accounted for the highest burden of DALYs. CONCLUSIONS: Overall, there was an improvement in the state of health in the EU but substantial differences between countries remain. Cardiovascular diseases still represent the major burden, although there have been substantial improvements. There are many opportunities for mutual learning among otherwise similar countries with different patterns of disease.


Assuntos
Efeitos Psicossociais da Doença , Expectativa de Vida , Europa (Continente)/epidemiologia , União Europeia , Humanos , Anos de Vida Ajustados por Qualidade de Vida
4.
JMIR Pediatr Parent ; 7: e52540, 2024 Apr 08.
Artigo em Inglês | MEDLINE | ID: mdl-38602309

RESUMO

Background: The use of a smartphone built-in microphone for auscultation is a feasible alternative to the use of a stethoscope, when applied by physicians. Objective: This cross-sectional study aims to assess the feasibility of this technology when used by parents-the real intended end users. Methods: Physicians recruited 46 children (male: n=33, 72%; age: mean 11.3, SD 3.1 y; children with asthma: n=24, 52%) during medical visits in a pediatric department of a tertiary hospital. Smartphone auscultation using an app was performed at 4 locations (trachea, right anterior chest, and right and left lung bases), first by a physician (recordings: n=297) and later by a parent (recordings: n=344). All recordings (N=641) were classified by 3 annotators for quality and the presence of adventitious sounds. Parents completed a questionnaire to provide feedback on the app, using a Likert scale ranging from 1 ("totally disagree") to 5 ("totally agree"). Results: Most recordings had quality (physicians' recordings: 253/297, 85.2%; parents' recordings: 266/346, 76.9%). The proportions of physicians' recordings (34/253, 13.4%) and parents' recordings (31/266, 11.7%) with adventitious sounds were similar. Parents found the app easy to use (questionnaire: median 5, IQR 5-5) and were willing to use it (questionnaire: median 5, IQR 5-5). Conclusions: Our results show that smartphone auscultation is feasible when performed by parents in the clinical context, but further investigation is needed to test its feasibility in real life.

5.
Arch Womens Ment Health ; 16(1): 67-77, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23255075

RESUMO

The aims of the present study were to develop three shorter forms of the Portuguese version of the Postpartum Depression Screening Scale (PDSS) as adapted and translated in Portugal, to analyse their psychometrics and to determine their cut-off points and associated conditional probabilities to screen for perinatal depression according to DSM-IV and ICD-10 criteria. In this study, 441 women in the third trimester of pregnancy and 453 in the third month of postpartum were interviewed for diagnostic purposes according to the Portuguese versions of the Diagnostic Interview for Genetic Studies and the Operational Criteria Checklist for Psychotic Illness. DSM-IV and ICD-10 classifications of depression were our gold standards for caseness. Three different shorter forms of the original Portuguese version of the PDSS were developed on the basis of reliability and factorial analysis. PDSS short versions, composed of seven and 21 (postpartum)/24 (pregnancy) items, presented significant reliability and validity and showed satisfactory combinations of sensitivity and specificity (≅80 %). The short forms of the original Portuguese version of the PDSS are valid alternatives to the 35-item version, given their equally precise screening performances, more concise structures and ease of completion.


Assuntos
Depressão Pós-Parto/diagnóstico , Programas de Rastreamento/instrumentação , Inquéritos e Questionários/normas , Tradução , Adulto , Depressão Pós-Parto/psicologia , Feminino , Humanos , Classificação Internacional de Doenças , Portugal , Gravidez , Análise de Componente Principal , Escalas de Graduação Psiquiátrica , Psicometria/estatística & dados numéricos , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Adulto Jovem
6.
Arch Womens Ment Health ; 15(6): 459-68, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23053217

RESUMO

The role of perfectionism as a correlate and as a predictor of perinatal depressive symptomatology and disorder was examined. Three-hundred and eighty-six pregnant women (mean age = 30.08 years; SD = 4.205; range = 19-44) completed the Portuguese versions of the Multidimensional Perfectionism Scale, Beck Depression Inventory-II/BDI-II and three questions evaluating anxiety trait, life stress and social support perception. Diagnoses of depression were obtained using the Portuguese version of the Diagnostic Interview for Genetic Studies/OPCRIT system. Women who were depressed in pregnancy (ICD-10/DSM-IV) were excluded from the analyses. Self-Oriented Perfectionism and Socially Prescribed Perfectionism subcomponents (Conditional Acceptance and Others' High Standards) were significant correlates of depressive symptomatology/BDI-II in pregnancy. Others' High Standards was a significant predictor of postpartum depressive symptomatology/BDI-II, after controlling the other independent variables (depressive symptomatology and trait anxiety in pregnancy, life stress and social support perception in postpartum). None of the perfectionism subscales predicted postpartum depressive disorder (ICD-10/DSM-IV). Self-Oriented Perfectionism was an important correlate of depressive symptomatology in pregnancy and Others' High Standards and Conditional Acceptance were significant correlates of perinatal depressive symptomatology. Others' High Standards accounted for 0.8 % of the depressive symptomatology variance in postpartum after controlling the effect for other depressive symptomatology correlates. Perfectionism was not a risk factor for postpartum depressive disorder. Our findings improve the knowledge regarding the risk factors implicated in the development of postpartum depressive symptomatology/disorder, which is of utmost importance to develop adequate prevention and intervention strategies.


Assuntos
Depressão Pós-Parto/psicologia , Transtorno Depressivo Maior/psicologia , Personalidade , Adulto , Depressão Pós-Parto/diagnóstico , Depressão Pós-Parto/epidemiologia , Transtorno Depressivo Maior/diagnóstico , Transtorno Depressivo Maior/epidemiologia , Feminino , Humanos , Classificação Internacional de Doenças , Modelos Logísticos , Assistência Perinatal , Inventário de Personalidade , Portugal/epidemiologia , Valor Preditivo dos Testes , Gravidez , Prevalência , Escalas de Graduação Psiquiátrica , Fatores de Risco , Apoio Social , Estresse Psicológico/psicologia
7.
J Sleep Res ; 20(3): 479-86, 2011 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-20887393

RESUMO

This study investigates the association between sleep disturbances, body mass index (BMI) and eating behaviour in a sample of undergraduate students. The sample comprises 870 medicine and dentistry students from Coimbra University (62.5% females), aged between 17 and 25 years. The Eating Attitudes Test-40 was used to measure eating behaviour, and two questions were applied addressing difficulties of initiating sleep (DIS) and difficulties of maintaining sleep (DMS). A sleep disturbance index (SDI) was calculated from the sum of DIS and DMS scores. Body mass index (BMI) was determined from self-reported weight and height. The correlation analyses generally indicated that global eating disturbance, bulimic behaviour dimension and social pressure to eat were associated particularly with sleep difficulties. An association between diet concerns and sleep difficulties was less consistent. Regression analyses showed that bulimic behaviour (BB) and social pressure to eat (SPE) dimensions were associated significantly with sleep difficulties (DIS, DMS, SDI) in the total sample (BB: from P<0.01 to P<0.001; SPE: P<0.05) and in males (BB: from P<0.05 to P<0.001; SPE: P<0.05) and with insomnia symptoms (P<0.01). In females, bulimic behaviour was the only factor associated significantly with sleep difficulties (SDI, DIS; P<0.01) and with insomnia symptoms (P<0.05). Although BMI was correlated negatively with sleep difficulties (P<0.05), regression analyses indicated that it was not associated significantly with them. Our findings support an association between eating behaviour and sleep disturbances in both genders, which may have treatment implications.


Assuntos
Índice de Massa Corporal , Comportamento Alimentar/psicologia , Transtornos do Sono-Vigília/complicações , Adolescente , Adulto , Análise de Variância , Comportamento Alimentar/fisiologia , Feminino , Humanos , Masculino , Fatores Sexuais , Transtornos do Sono-Vigília/psicologia , Estatísticas não Paramétricas , Adulto Jovem
8.
Psychiatry Res ; 186(2-3): 272-80, 2011 Apr 30.
Artigo em Inglês | MEDLINE | ID: mdl-20638730

RESUMO

The aim of the present work was to investigate if insomnia in late pregnancy is a risk factor for postpartum depressive symptomatology/postpartum depression (PPD). 581 women in their last trimester of pregnancy answered questions/questionnaires about lifetime history of insomnia, current sleep perception, current mood and depressive symptomatology. They were interviewed with the Portuguese version of the Diagnostic Interview for Genetic Studies. After delivery 382 (65.7%) mothers participated again in the study. Insomnia in pregnancy was not a risk factor for PPD (DSM-IV or ICD-10) but was a significant predictor of postpartum depressive symptomatology. Negative Affect (NA) was a significant predictor of postpartum depressive symptomatology. Women with higher NA were 4.6 (CI95%=1.69-12.74) and 5.3 times (CI95%=2.26-12.58) more likely of experiencing PPD (DSM-IV/ICD-10, respectively) than women with lower NA. Lifetime Depression was a significant predictor of postpartum depressive symptomatology and ICD-10/PPD (OR=2.6; CI95%=1.16-4.38). Positive Affect (PA) showed to be a protective factor for postpartum depressive symptomatology and DSM-IV/PPD (OR=1.5; CI95%=1.20-2.33). Controlling NA, PA and Lifetime Depression, insomnia lost its predictive role, suggesting these variables might work as mediators. Associations between insomnia, NA, PA and Lifetime Depression should be assessed in pregnancy. This might help to preventively target NA, enhance PA and reduce the likelihood of experiencing postpartum depressive symptomatology.


Assuntos
Depressão Pós-Parto/epidemiologia , Gravidez/psicologia , Distúrbios do Início e da Manutenção do Sono/epidemiologia , Adolescente , Adulto , Feminino , Humanos , Modelos Lineares , Estudos Longitudinais , Polissonografia , Prevalência , Fatores de Risco , Inquéritos e Questionários , Adulto Jovem
9.
Arch Womens Ment Health ; 14(3): 227-38, 2011 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-20645114

RESUMO

The purpose of the study was to analyse for the first time the validity of a slightly modified version of the Portuguese Postpartum Depression Screening Scale (PDSS), to be used as a screening instrument for antenatal depression. Specifically, the aims were to analyse its psychometric properties, to determine PDSS cutoff points and associated conditional probabilities to screen for depression according to DSM-IV and ICD-10 criteria and to compare its screening performance with that of the Beck Depression Inventory-II (BDI-II). Five hundred and three pregnant women in the third trimester of pregnancy completed both questionnaires and were interviewed face-to-face with the Portuguese version of the Diagnostic Interview for Genetic Studies. The Portuguese version of the Operational Criteria Checklist for Psychotic Illness was used to obtain DSM-IV and ICD-10 diagnoses of depression, our gold standards for caseness. PDSS reliability and validity were very good and comparable to those obtained in the postpartum validation studies developed in Portugal and in other countries, showing satisfactory sensitivity and specificity combinations (≅80%). Compared with BDI-II, it has the advantage of being more specific for the motherhood context. Although developed for postpartum depression, PDSS is accurate to screen for antenatal depression, and it could be very useful for clinical and epidemiologic purposes.


Assuntos
Depressão Pós-Parto/prevenção & controle , Depressão/diagnóstico , Programas de Rastreamento/métodos , Complicações na Gravidez/diagnóstico , Trimestres da Gravidez/psicologia , Inquéritos e Questionários/normas , Adulto , Feminino , Humanos , Programas de Rastreamento/instrumentação , Portugal , Gravidez , Complicações na Gravidez/psicologia , Psicometria , Reprodutibilidade dos Testes , Tradução , Adulto Jovem
10.
Methods Inf Med ; 60(S 01): e9-e19, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-33906260

RESUMO

BACKGROUND: The adherence to inhaled controller medications is of critical importance for achieving good clinical results in patients with chronic respiratory diseases. Self-management strategies can result in improved health outcomes and reduce unscheduled care and improve disease control. However, adherence assessment suffers from difficulties on attaining a high grade of trustworthiness given that patient self-reports of high-adherence rates are known to be unreliable. OBJECTIVE: Aiming to increase patient adherence to medication and allow for remote monitoring by health professionals, a mobile gamified application was developed where a therapeutic plan provides insight for creating a patient-oriented self-management system. To allow a reliable adherence measurement, the application includes a novel approach for objective verification of inhaler usage based on real-time video capture of the inhaler's dosage counters. METHODS: This approach uses template matching image processing techniques, an off-the-shelf machine learning framework, and was developed to be reusable within other applications. The proposed approach was validated by 24 participants with a set of 12 inhalers models. RESULTS: Performed tests resulted in the correct value identification for the dosage counter in 79% of the registration events with all inhalers and over 90% for the three most widely used inhalers in Portugal. These results show the potential of exploring mobile-embedded capabilities for acquiring additional evidence regarding inhaler adherence. CONCLUSION: This system helps to bridge the gap between the patient and the health professional. By empowering the first with a tool for disease self-management and medication adherence and providing the later with additional relevant data, it paves the way to a better-informed disease management decision.


Assuntos
Adesão à Medicação , Aplicativos Móveis , Humanos , Nebulizadores e Vaporizadores , Portugal
11.
Arch Womens Ment Health ; 12(1): 43-52, 2009 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-19159067

RESUMO

Pregnancy is essentially a physiological event, but neuroendocrinal and psychosocial changes are also important components of this experience. In this context, perceived stress may be enhanced by the activation of certain personality traits, like perfectionism, which in turn may be associated with more psychological distress (PD). The aim of this study was to investigate if perfectionism could be associated with more negative emotional outcomes (PD) in the transition to motherhood and to look at which of the perfectionism dimensions these consequences are specifically linked. The sample comprises 421 pregnant women (mean = 29.8, SD = 4.48 years) who completed measures of perfectionism and mood symptoms. A two-factor model with self-oriented perfectionism (SOP) and socially prescribed perfectionism (SPP) dimensions and a three-factor model with SOP, SPP-others' high standards and SPP-conditional acceptance (CA) factors were explored. Correlations and linear regressions were calculated between perfectionism factors and mood variables. Results showed that higher levels of SPP factors were associated with increased anxiety, depression, anger, fatigue and confusion, with decreased vigour and with more severe depressive symptoms. Our results, in contrast with those from the study of Campbell and DiPaula (2002, In: Flett G, Hewitt P (eds) Perfectionism. Theory, research, and practice. American Psychological Association, Washington, pp 181-198), did not confirm a preferential association between SPP-CA and PD, revealing that both components of SPP were associated with PD.


Assuntos
Logro , Afeto , Gravidez/psicologia , Autoimagem , Adulto , Feminino , Humanos , Entrevistas como Assunto , Saúde Mental , Determinação da Personalidade , Portugal , Estresse Psicológico , Adulto Jovem
12.
Eur Psychiatry ; 24(5): 334-40, 2009 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-19091525

RESUMO

The purpose of the present study was to investigate the factor structure of the Beck Depression Inventory-II (BDI-II) in pregnancy and postpartum. Women were asked to fill in the BDI-II in their last trimester of pregnancy and at 3 months after delivery. A total of 331 pregnant women, with a mean age of 29.7 years (SD=4.6), and 354 mothers, aged 30.6 years (SD=4.6 years), answered the BDI-II. The first group was mainly nulliparas (65.6%) and the second group was mostly primiparas (57.4%). Factor analyses with principal components solution and varimax rotation were performed. Based on the scree test of Cattell a 2-factor solution and a 3-factor solution were explored. The 2-factor solution was identical in pregnancy and postpartum. Items loading in the Cognitive-Affective factor and in the Somatic-Anxiety factor were almost the same, though the Cognitive-Affective factor explained more of the BDI-II total variance in pregnancy, whereas in postpartum both factors explained similar total variances. The 3-factor solution of the BDI-II in pregnancy and postpartum slightly diverged. Besides the Cognitive-Affective and the Somatic-Anxiety factors, a third factor, Fatigue, was obtained in pregnancy while Guilt was the third factor identified in postpartum. This study reveals that the BDI-II 3-factor solution might be more appropriate to assess depressive symptoms in pregnancy and postpartum.


Assuntos
Depressão Pós-Parto/diagnóstico , Transtorno Depressivo/diagnóstico , Inventário de Personalidade/estatística & dados numéricos , Complicações na Gravidez/diagnóstico , Adulto , Transtornos de Ansiedade/diagnóstico , Transtornos de Ansiedade/epidemiologia , Transtornos de Ansiedade/psicologia , Transtorno Bipolar/diagnóstico , Transtorno Bipolar/epidemiologia , Transtorno Bipolar/psicologia , Estudos Transversais , Depressão Pós-Parto/epidemiologia , Depressão Pós-Parto/psicologia , Transtorno Depressivo/epidemiologia , Transtorno Depressivo/psicologia , Transtorno Depressivo Maior/diagnóstico , Transtorno Depressivo Maior/epidemiologia , Transtorno Depressivo Maior/psicologia , Análise Fatorial , Feminino , Humanos , Gravidez , Complicações na Gravidez/epidemiologia , Complicações na Gravidez/psicologia , Terceiro Trimestre da Gravidez , Psicometria/estatística & dados numéricos , Recidiva , Reprodutibilidade dos Testes , Fatores de Risco , Transtornos Somatoformes/diagnóstico , Transtornos Somatoformes/epidemiologia , Transtornos Somatoformes/psicologia , Adulto Jovem
13.
Eur Eat Disord Rev ; 17(5): 390-8, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19308944

RESUMO

AIM: To investigate the role of perfectionism in the development of disordered eating behaviours. METHOD: 382 female university students completed the Hewitt & Flett MPS and the EAT-40 at baseline, and 1 year after (T1) and 206 2 years later (T2). RESULTS: Perfectionism at baseline was significantly associated with long-term abnormal eating attitudes/behaviours. Self-Oriented Perfectionism (SOP) and Socially Prescribed Perfectionism (SPP) were significant predictors of disordered eating behaviours. Regression analysis revealed that SOP at baseline was predictive of Diet Concerns and overall eating disturbance (EAT total score), at T1 and T2. SPP was a significant predictor of Social Pressure to Eat at T1 and T2 and of Bulimic Behaviours only at T1. CONCLUSION: Our findings contribute to a more clear understanding of the association between perfectionism and eating disorders. SOP and SPP were prospectively associated with abnormal eating attitudes/behaviours and SOP was found to be predictive of diet concerns and overall eating disturbance.


Assuntos
Atitude Frente a Saúde , Comportamento Alimentar/psicologia , Adolescente , Transtornos da Alimentação e da Ingestão de Alimentos/psicologia , Feminino , Humanos , Estudos Longitudinais , Inventário de Personalidade , Portugal , Adulto Jovem
14.
J Psychiatr Res ; 42(2): 125-33, 2008 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-17140601

RESUMO

The neurogranin (NRGN) gene produces a postsynaptic brain-specific protein that regulates calmodulin-Ca(2+) availability in neurons. Acting downstream of the NMDA receptor and upstream of calcineurin and other proteins implicated in schizophrenia, NRGN is a good candidate for association studies in schizophrenia. NRGN expression is regulated during development and is modulated by thyroid hormones and retinoids, molecules essential for the proper development of the central nervous system. Given the genetic complexity of schizophrenia and the potential genetic heterogeneity in different populations, we studied a possible association of NRGN with schizophrenia in 73 Azorean proband-parent triads and in two independent case-control samples from the Portuguese-mainland (244 schizophrenic and 210 controls) and Brazil (69 schizophrenic and 85 mentally healthy individuals). Genotype distribution showed association of the rs7113041 SNP with schizophrenia in males of Portuguese origin, which was confirmed by the analysis of the proband-parent triads. This evidence, implicating NRGN in schizophrenia, introduces another player into the glutamatergic hypothesis of schizophrenia.


Assuntos
Neurogranina/genética , Esquizofrenia/genética , Idade de Início , Açores , Brasil , Estudos de Casos e Controles , Éxons/genética , Frequência do Gene/genética , Pool Gênico , Triagem de Portadores Genéticos , Marcadores Genéticos/genética , Genética Populacional , Genótipo , Humanos , Íntrons/genética , Desequilíbrio de Ligação , Masculino , Nucleotídeos/genética , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição/genética , Polimorfismo de Nucleotídeo Único/genética , Portugal
15.
J Med Genet ; 44(8): 532-6, 2007 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-17412882

RESUMO

BACKGROUND: The gap junction subunit connexin permits direct intercellular exchange of ions and molecules including glutamate, and plays an important role in the central nervous system. The connexin 40 (Cx40) and connexin 50 (Cx50) genes are located on chromosome 1q21.1, a region strongly linked with schizophrenia. These lines of evidence suggest that Cx40 and Cx50 may play a role in schizophrenia. METHODS: Using an allele-specific PCR assay, four polymorphisms each were genotyped for Cx40 and Cx50 in 190 Caucasian patients with schizophrenia and 190 controls matched for sex, age and ethnicity. Following up, Cx50 rs989192 and rs4950495 were investigated in 99 Canadian and 163 Portuguese trios and nuclear families with schizophrenia probands. Hardy-Weinberg equilibrium and linkage disequilibrium (LD) block identification was carried out with HaploView, and association analysis for alleles and haplotypes with a permutation test of 10 000 simulations was carried out using the UNPHASED software program. RESULTS: Distributions of genotype frequencies of all markers were in Hardy-Weinberg equilibrium in Caucasian patients, controls and families. One rs989192-rs4950495 LD block was found in patients but not in controls. We found a significant association between the Cx50 rs989192-rs4950495 haplotype and schizophreniay (chi(2) = 29.55, p<0.01). The A-C haplotype had a higher frequency in patients (chi(2) = 7.153, p<0.01). Family studies also showed that the A-C haplotype was transmitted more often to patients with schizophrenia (chi(2) = 8.43, p<0.01). No association of Cx40 with schizophrenia was found for allele, genotype or haplotype analyses. CONCLUSIONS: Our matched case-control and family study indicate that Cx50, but not Cx40, may play a role in the genetic susceptibility to schizophrenia.


Assuntos
Cromossomos Humanos Par 1 , Conexinas/genética , Proteínas do Olho/genética , Esquizofrenia/genética , Estudos de Casos e Controles , Família , Feminino , Frequência do Gene , Genótipo , Humanos , Desequilíbrio de Ligação , Masculino , Reação em Cadeia da Polimerase , Polimorfismo Genético , Polimorfismo de Nucleotídeo Único , Valores de Referência , População Branca
16.
J Psychiatr Res ; 41(8): 667-72, 2007 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-16716350

RESUMO

It has been proposed that schizophrenia results from an environmental insult in genetically predisposed individuals. Environmental factors capable of modulating transcriptional activity and their carriers could link the genetic and environmental components of schizophrenia. Among these is transthyretin (TTR), a major carrier of thyroid hormones and retinol-binding protein (RBP). Retinoids and thyroid hormones regulate the expression of several genes, both during development and in the adult brain. Decreased TTR levels have been reported in the cerebrospinal fluid of patients with depression and Alzheimer's disease, and the absence of TTR influences behavior in mice. DNA variants capable of altering TTR ability to carry its ligands, either due to reduced transcription of the gene or to structural modifications of the protein, may influence development of the central nervous system and behavior. In the present study we searched for variants in the regulatory and coding regions of the TTR gene, and measured circulating levels of TTR and RBP. We found a novel single nucleotide polymorphism (SNP), ss46566417, 18 bp upstream of exon 4. Neither this SNP nor the previously described rs1800458 were found associated with schizophrenia. In addition, serum TTR and RBP levels did not differ between mentally healthy and schizophrenic individuals. In conclusion, our data does not support an involvement of the TTR gene in the pathophysiology of schizophrenia.


Assuntos
Variação Genética/genética , Pré-Albumina/genética , Pré-Albumina/metabolismo , Esquizofrenia/sangue , Esquizofrenia/genética , Adulto , Brasil , Estudos de Casos e Controles , Éxons/genética , Feminino , Regulação da Expressão Gênica/fisiologia , Predisposição Genética para Doença/genética , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único/genética , Portugal , Valores de Referência , Proteínas de Ligação ao Retinol/genética , Proteínas de Ligação ao Retinol/metabolismo , Fatores de Risco , Meio Social , Estatística como Assunto
17.
Chemosphere ; 64(7): 1128-33, 2006 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-16405950

RESUMO

An investigation was made on the adsorption and kinetics of photodegradation of potassium hydrogenphthalate in an aqueous suspension of TiO(2). Two models, Langmuir and Freundlich, were used to describe the adsorption process and the model proposed by Langmuir-Hinshelwood (L-H) was employed to describe the kinetics of the photodecomposition reactions of hydrogenphthalate. The results of the adsorptions were fitted to the models proposed by Langmuir and Freundlich. Adsorption was found to be a function of the temperature, with adsorption capacity increasing from 2.4 to 4.5 mg/g when the temperature rose from 20 to 30 degrees C. The kinetic model indicates that the rate constant, k, of the first order reaction, is high in the 10.0 to 100 mg/l interval, which is coherent with the low value of the adsorption constant, K. The results fitted to the L-H model led to an equation that, within the range of concentrations studied here, theoretically allows one to evaluate the photodegradation rate.


Assuntos
Ácidos Ftálicos/química , Ácidos Ftálicos/efeitos da radiação , Titânio/química , Adsorção , Catálise , Cinética , Modelos Químicos , Fotoquímica
18.
Neurosci Lett ; 388(3): 173-8, 2005 Nov 18.
Artigo em Inglês | MEDLINE | ID: mdl-16039051

RESUMO

The human p53 tumor suppressor gene (TP53) is considered as a candidate susceptibility gene for schizophrenia because of its functions in neurodevelopment. To test for an association between TP53 and schizophrenia, both the case-control study and the transmission disequilibrium test (TDT) were performed on genotype data from eight polymorphisms in TP53. Our samples included 286 Toronto schizophrenia cases and 264 controls, and 163 Portuguese nuclear families. In the Toronto case-control study significant differences of allele frequencies of the CAA Ins/Del (p=0.027) and the 16bp Ins/Del (p=0.022) were detected. In TDT analysis we found significant differences for transmission of the CAA Ins/Del (p=0.017) in Portuguese schizophrenia families. Haplotype analysis also showed a significant association between TP53 and schizophrenia. These results provide further evidence that TP53 may play a role in the pathogenesis of schizophrenia.


Assuntos
Química Encefálica/genética , Predisposição Genética para Doença/genética , Esquizofrenia/genética , Proteína Supressora de Tumor p53/genética , Estudos de Casos e Controles , Análise Mutacional de DNA , Feminino , Frequência do Gene/genética , Testes Genéticos , Genótipo , Haplótipos , Humanos , Desequilíbrio de Ligação/genética , Masculino , Ontário/epidemiologia , Polimorfismo Genético/genética , Portugal/epidemiologia , Esquizofrenia/epidemiologia , Esquizofrenia/metabolismo
19.
Psychiatry Res ; 125(3): 185-91, 2004 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-15051179

RESUMO

Schizophrenia is a highly heritable condition, as demonstrated in family, twin and adoption studies. Candidate genes from the dopaminergic system have long been hypothesized to be involved in the etiology of this disorder. In the present study, we investigated the genetic association between polymorphisms in the D2 and D3 dopamine receptor (DRD2, DRD3) genes and schizophrenia. We examined 90 trios from Portugal, and negative results were obtained from association studies with both Haplotype Relative Risk (HRR) and Transmission Disequilibrium Test (TDT), as well as TRANSMIT. Therefore, we conclude that neither the DRD2 nor the DRD3 gene polymorphisms investigated are associated with schizophrenia in our sample.


Assuntos
Expressão Gênica/genética , Polimorfismo Genético/genética , Receptores de Dopamina D2/genética , Esquizofrenia/genética , Área Programática de Saúde , Manual Diagnóstico e Estatístico de Transtornos Mentais , Feminino , Haplótipos/genética , Humanos , Masculino , Portugal/epidemiologia , Receptores de Dopamina D3 , Esquizofrenia/diagnóstico
20.
Eat Behav ; 14(2): 192-8, 2013 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-23557819

RESUMO

The aim of the present study was to investigate if disordered eating behaviors predicted the development of sleep disturbances. A total of 870 students participated at baseline, 592 one year later (T1) and 305 two years later (T2). The Eating Attitudes Test-40 was used to assess global disordered eating behaviors, dietary concerns (DC), bulimic behaviors (BB) and social pressure to eat (SPE). Sleep disturbances were assessed by two items related to difficulties initiating sleep (DIS) and maintaining sleep (DMS). A sleep disturbance index (SDI) was calculated by summing DIS and DMS scores. Results revealed that global disordered eating behaviors at baseline predicted DIS, DMS and SDI at T1 and T2. Students with increased BB and SPE scores at baseline were more likely to experience sleep onset and sleep maintenance difficulties in the long term. These results suggest that assessment and correction of eating behaviors might prevent sleep disturbances.


Assuntos
Atitude , Comportamento Alimentar , Transtornos da Alimentação e da Ingestão de Alimentos/epidemiologia , Distúrbios do Início e da Manutenção do Sono/epidemiologia , Adolescente , Adulto , Índice de Massa Corporal , Bulimia/epidemiologia , Feminino , Humanos , Estudos Longitudinais , Masculino , Portugal/epidemiologia , Análise de Regressão , Estudantes/estatística & dados numéricos , Universidades , Adulto Jovem
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