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1.
J Affect Disord ; 266: 258-262, 2020 Jan 14.
Artigo em Inglês | MEDLINE | ID: mdl-32056886

RESUMO

BACKGROUND: Cannabis use is markedly prevalent among patients with bipolar disorder (BD). However, to date, there have been no studies on this issue with a sex-based approach. This study examines if lifetime cannabis use (LCU) is differently associated with clinical course, functioning, and quality of life (QoL) in patients with BD by sex. METHODS: Secondary analysis of a cross-sectional, naturalistic, multicentre study. LCU was defined as having had at least one day of use per month for at least 12 consecutive months in a patient's life. RESULTS: A total of 224 patients with BD were included (65.2% women). Patients with LCU were younger (p = 0.001) and had their first hospitalization earlier (p<0.005) than those without LCU, regardless of sex. Among women, LCU was associated with being single (p = 0.006), worse sexual functioning (p = 0.006), financial functioning (p = 0.009), QoL [bodily pain (p = 0.009), vitality (p = 0.027), social functioning (p = 0.037), emotional role (p = 0.038), mental health (p = 0.001), and mental summary component (p = 0.012)]. After controlling for confounders, among women, LCU was associated with worse QoL, specifically on bodily pain (p = 0.049) and mental health (p = 0.016) subscales. Among males, no statistically significant differences were found between LCU and no LCU (NLCU) in any of the variables of the study. LIMITATIONS: This study was a secondary analysis not powered specifically to analyze cannabis use. CONCLUSIONS: LCU was associated with a younger age at first hospitalization in both women and men, while only women reported worse QoL on bodily pain and mental health subscales. Clinicians and public health providers should be aware of this and inform their patients and the general population of these detrimental effects.

2.
3.
Clin Epigenetics ; 11(1): 171, 2019 Nov 28.
Artigo em Inglês | MEDLINE | ID: mdl-31779681

RESUMO

Constitutional MLH1 methylation (epimutation) is a rare cause of Lynch syndrome. Low-level methylation (≤ 10%) has occasionally been described. This study aimed to identify low-level constitutional MLH1 epimutations and determine its causal role in patients with MLH1-hypermethylated colorectal cancer.Eighteen patients with MLH1-hypermethylated colorectal tumors in whom MLH1 methylation was previously undetected in blood by methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) were screened for MLH1 methylation using highly sensitive MS-melting curve analysis (MS-MCA). Constitutional methylation was characterized by different approaches.MS-MCA identified one patient (5.6%) with low-level MLH1 methylation (~ 1%) in blood and other normal tissues, which was confirmed by clonal bisulfite sequencing in blood. The patient had developed three clonally related gastrointestinal MLH1-methylated tumor lesions at 22, 24, and 25 years of age. The methylated region in normal tissues overlapped with that reported for other carriers of constitutional MLH1 epimutations. Low-level MLH1 methylation and reduced allelic expression were linked to the same genetic haplotype, whereas the opposite allele was lost in patient's tumors. Mutation screening of MLH1 and other hereditary cancer genes was negative.Herein, a highly sensitive MS-MCA-based approach has demonstrated its utility for the identification of low-level constitutional MLH1 epigenetic mosaicism. The eventual identification and characterization of additional cases will be critical to ascertain the cancer risks associated with constitutional MLH1 epigenetic mosaicism.

4.
J Med Genet ; 2019 Sep 07.
Artigo em Inglês | MEDLINE | ID: mdl-31494577

RESUMO

INTRODUCTION: Lynch syndrome (LS) and constitutional mismatch repair deficiency (CMMRD) are hereditary cancer syndromes associated with mismatch repair (MMR) deficiency. Tumours show microsatellite instability (MSI), also reported at low levels in non-neoplastic tissues. Our aim was to evaluate the performance of high-sensitivity MSI (hs-MSI) assessment for the identification of LS and CMMRD in non-neoplastic tissues. MATERIALS AND METHODS: Blood DNA samples from 131 individuals were grouped into three cohorts: baseline (22 controls), training (11 CMMRD, 48 LS and 15 controls) and validation (18 CMMRD and 18 controls). Custom next generation sequencing panel and bioinformatics pipeline were used to detect insertions and deletions in microsatellite markers. An hs-MSI score was calculated representing the percentage of unstable markers. RESULTS: The hs-MSI score was significantly higher in CMMRD blood samples when compared with controls in the training cohort (p<0.001). This finding was confirmed in the validation set, reaching 100% specificity and sensitivity. Higher hs-MSI scores were detected in biallelic MSH2 carriers (n=5) compared with MSH6 carriers (n=15). The hs-MSI analysis did not detect a difference between LS and control blood samples (p=0.564). CONCLUSIONS: The hs-MSI approach is a valuable tool for CMMRD diagnosis, especially in suspected patients harbouring MMR variants of unknown significance or non-detected biallelic germline mutations.

6.
Rev. psiquiatr. salud ment. (Barc., Ed. impr.) ; 12(2): 106-115, abr.-jun. 2019. tab
Artigo em Espanhol | IBECS-Express | ID: ibc-ET1-4104

RESUMO

La estadificación clínica es una herramienta diagnóstica utilizada en otras especialidades de la medicina que surge de la combinación de un enfoque categorial y dimensional. En las últimas 2 décadas, se ha planteado su aplicación en el campo de la psiquiatría, fundamentalmente como herramienta de ayuda diagnóstica, de orientación terapéutica y pronóstica. En este trabajo se revisan los modelos de estadificación clínica que han sido propuestos hasta la fecha para el trastorno bipolar, la depresión y la esquizofrenia. Se realizó una búsqueda bibliográfica en las bases de datos PubMed y Medline. Se seleccionaron con base en los criterios de inclusión y exclusión un total de 15 estudios. Se describen y comparan las características de cada uno de los modelos agrupados según el tipo de trastorno para el que fueron propuestos (trastorno bipolar: 4; depresión: 5; esquizofrenia: 6). Como conclusión, identificamos la necesidad de validar empíricamente dichos modelos para así demostrar que son una herramienta útil en la práctica clínica habitual


Clinical staging is a diagnostic tool used in other medical specialties, which has resulted from the combination of a categorical and dimensional approach. In the last 2 decades, the usefulness of its application in the field of psychiatry has been suggested, mainly as a tool for diagnostic help, and therapeutic and prognostic orientation. In this paper we review the clinical staging models that have been proposed to date for bipolar disorder, depression and schizophrenia. A literature search was performed in PubMed and Medline databases. A total of 15 studies were selected according to inclusion and exclusion criteria. Models were grouped according to the type of disorder for which staging was proposed (bipolar disorder: 4, depression: 5, schizophrenia: 6), and their characteristics were described. As a conclusion, we identify the need to empirically validate these models to demonstrate that staging is a useful tool for clinical practice

7.
Adicciones ; 31(4): 298-308, 2019 Sep 01.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-31018000

RESUMO

Smoking and depression are related in a bidirectional way: smoking is the primary avoidable cause of illness and death in patients with depression, and depression is one of the most consistent risk factors for smoking. The main objective of this study is to investigate the relationship between smoking and depression, analyzing sociodemographic and clinical variables such as severity of symptoms, subtype of affective disorder, and its impact on suicidal behavior in the clinical population.A sample of 201 patients, over 18 years of age [mean age (SD) = 53.76 (10.36) years; women = 132 (65.7%)], with a history of depressive episode (unipolar or bipolar) or dysthymia (ICD 10 criteria) was studied.Current smoking prevalence was 43.2% and life-time prevalence 61.2%. No statistically significant differences in smoking prevalence between men and women were found (X2 = 3.896, p = 0.143). The average age of onset was 17.81 (5.60) years. There was a tendency towards a linear association between number of cigarettes/day consumed and severity of depression according to the Hamilton Depression Scale (HDRS) in current smokers (Pearson's R = 0.298, p = 0.050). Multinomial logistic regression analysis showed that current tobacco consumption was associated with higher HDRS scores, with each additional point on the HDRS increasing the likelihood of smoking by 0.062 [p = 0.032; OR (95% CI) = 1.064 (1.005-1.125)].Our results showed that depressed patients present higher prevalence of current smoking than the general population, also suggesting a relationship between severity of consumption and severity of depressive symptoms.

8.
Adicciones ; 0(0): 1239, 2019 Mar 29.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-31018001

RESUMO

Self-harm behaviors in children and adolescents constitute an important public health problem with prevalence figures in the clinical population between 40 and 80%. The objectives of the study were to analyze and compare the Spanish sub-samples of two studies, SEYLE and WE-STAY to determine prevalence, self-harm patterns and factors associated with self-harm behaviors, notably the use of alcohol or drugs. The questionnaires used in both studies were the Global School Health Survey (GSHS), the Beck Depression Inventory (BDI-II), the Strengths and Difficulties Questionnaire (SDQ). The self-harm behaviors were evaluated with a modified 6-item version of s the Deliberate Self-Harm Inventory (DSHI). The independence of the study's categorical variables was assessed using the Chi-square test. The change in the relative risk of self-harm between the SEYLE study and WE-STAY was evaluated through the odds ratio (OR) calculation. Two different logistic regression models were calculated in order to establish the factors associated with self-harm behaviors in each study. In the present study, the rates of DSH vary according to study and sex, ranging from 0.58% to 2.08%, and different patterns of self-harm are evidenced by sex, with males self-injuring more frequently by self-inflicted blows and burns, while young women more often cut themselves. The presence of depressive symptoms and alcohol use were the factors most strongly associated with an increased risk of DSH.

10.
Mol Ther Nucleic Acids ; 14: 329-338, 2019 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-30665182

RESUMO

After induction of ischemia in mice, 14q32 microRNAs are regulated in three distinct temporal patterns. These expression patterns, as well as basal expression levels, are independent of the microRNA genes' order in the 14q32 locus. This implies that posttranscriptional processing is a major determinant of 14q32 microRNA expression. Therefore, we hypothesized that RNA binding proteins (RBPs) regulate posttranscriptional processing of 14q32, and we aimed to identify these RBPs. To identify proteins responsible for this posttranscriptional regulation, we used RNA pull-down SILAC mass spectrometry (RP-SMS) on selected precursor microRNAs. We observed differential binding of cold-inducible RBP (CIRBP) and hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta (HADHB) to the precursors of late-upregulated miR-329-3p and unaffected miR-495-3p. Immunohistochemical staining confirmed expression of both CIRBP and HADHB in the adductor muscle of mice. Expression of both CIRBP and HADHB was upregulated after hindlimb ischemia in mice. Using RBP immunoprecipitation experiments, we showed specific binding of CIRBP to pre-miR-329 but not to pri-miR-329. Finally, using CRISPR/Cas9, we generated HADHB-/- 3T3 cells, which display reduced expression of miR-329 and miR-495 but not their precursors. These data suggest a novel role for CIRBP and HADHB in posttranscriptional regulation of 14q32 microRNAs.

11.
J Med Genet ; 56(8): 521-525, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30580288

RESUMO

IMPORTANCE: Genetic testing of hereditary cancer using comprehensive gene panels can identify patients with more than one pathogenic mutation in high and/or moderate-risk-associated cancer genes. This phenomenon is known as multilocus inherited neoplasia alleles syndrome (MINAS), which has been potentially linked to more severe clinical manifestations. OBJECTIVE: To determine the prevalence and clinical features of MINAS in a large cohort of adult patients with hereditary cancer homogeneously tested with the same gene panel. PATIENTS AND METHODS: A cohort of 1023 unrelated patients with suspicion of hereditary cancer was screened using a validated panel including up to 135 genes associated with hereditary cancer and phakomatoses. RESULTS: Thirteen (1.37%) patients harbouring two pathogenic mutations in dominant cancer-predisposing genes were identified, representing 5.7% (13/226) of patients with pathogenic mutations. Most (10/13) of these cases presented clinical manifestations associated with only one of the mutations identified. One case showed mutations in MEN1 and MLH1 and developed tumours associated with both cancer syndromes. Interestingly, three of the double mutants had a young age of onset or severe breast cancer phenotype and carried mutations in moderate to low-risk DNA damage repair-associated genes; two of them presented biallelic inactivation of CHEK2. We included these two patients for the sake of their clinical interest although we are aware that they do not exactly fulfil the definition of MINAS since both mutations are in the same gene. CONCLUSIONS AND RELEVANCE: Genetic analysis of a broad cancer gene panel identified the largest series of patients with MINAS described in a single study. Overall, our data do not support the existence of more severe manifestations in double mutants at the time of diagnosis although they do confirm previous evidence of severe phenotype in biallelic CHEK2 and other DNA repair cancer-predisposing genes.

12.
Hum Mutat ; 40(1): 36-41, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30362666

RESUMO

We describe a family in which four siblings exhibited multiple or classic colonic polyposis with or without colorectal carcinoma (CRC). One female developed three primary tumors, including CRC and carcinomas of the ovary and breast. Whole-exome sequencing of germline DNA from affected and unaffected individuals revealed a novel missense mutation in the exonuclease domain of POLE (c.833C>A; p.Thr278Lys) associated with a highly penetrant, autosomal-dominant inheritance pattern. Functional studies in yeast and demonstration of a high mutational burden in the available tumors confirmed the pathogenicity of the novel variant. Prominent POLE-deficient somatic mutational signatures were seen in the CRCs, but in contrast, a mutational signature typical of concomitant tumoral loss of POLE and mismatch-repair function (POLE-exo* /MSI) was noted in the breast cancer. The breast cancer also showed distinctive pathological characteristics that reflect the presence of both the germline POLE variant and the secondary somatic MMR alterations.

14.
Adicciones ; 31(1): 52-63, 2019 Jan 01.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-30059577

RESUMO

Alcohol use/abuse is a health problem in adolescents. The last Survey on use of drugs in Secondary Schoolers carried out in Spain (ESTUDES 2014-2015), reveals that 76.8% of adolescents aged 14 to 18 years consumed alcohol in the previous year and 68.2% in the last month. The aim of this study is to determine the medium-term factors associated with alcohol consumption in a sample of Spanish adolescents. The present study was carried out as a part of the Saving and Empowering Young Lives project in Europe (SEYLE) project. The final sample was composed of 708 students, assessed at two times [basal (T0) and one year later (T1)] [males: 51.98%, basal mean age (SD)=4.43 (0.67)]. Univariate and multivariate regression analyses were performed in order to investigate relationships between possible predictive variables found at time T0 and alcohol consumption at time T1. At basal time (T0) the prevalence of alcohol abuse was 25.56%, whereas the prevalence one year later was 49.72% (T1). Variables that significantly predict alcohol abuse within a year are: previous alcohol abuse at T0 (p<0.001), previous abuse of drugs (p=0.011), parents attending their sporting events (p=0.005), peer problems (p=0.019), and lack of prosocial behaviour (p=0.043). In the light of our results, it can be concluded that, in adolescents, externalizing disorders seem to be determining factors of medium-term alcohol consumption.


Assuntos
Alcoolismo/epidemiologia , Consumo de Álcool por Menores/estatística & dados numéricos , Adolescente , Feminino , Seguimentos , Humanos , Masculino , Prevalência , Estudos Prospectivos , Fatores de Risco , Espanha/epidemiologia , Estudantes
15.
Rev Psiquiatr Salud Ment ; 12(2): 106-115, 2019.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-30314812

RESUMO

Clinical staging is a diagnostic tool used in other medical specialties, which has resulted from the combination of a categorical and dimensional approach. In the last 2decades, the usefulness of its application in the field of psychiatry has been suggested, mainly as a tool for diagnostic help, and therapeutic and prognostic orientation. In this paper we review the clinical staging models that have been proposed to date for bipolar disorder, depression and schizophrenia. A literature search was performed in PubMed and Medline databases. A total of 15 studies were selected according to inclusion and exclusion criteria. Models were grouped according to the type of disorder for which staging was proposed (bipolar disorder: 4, depression: 5, schizophrenia: 6), and their characteristics were described. As a conclusion, we identify the need to empirically validate these models to demonstrate that staging is a useful tool for clinical practice.


Assuntos
Transtorno Bipolar/diagnóstico , Depressão/diagnóstico , Transtorno Depressivo/diagnóstico , Escalas de Graduação Psiquiátrica , Esquizofrenia/diagnóstico , Índice de Gravidade de Doença , Humanos
16.
Adicciones (Palma de Mallorca) ; 31(4): 298-308, 2019. tab
Artigo em Inglês | IBECS-Express | ID: ibc-FGT-2557

RESUMO

Smoking and depression are related in a bidirectional way: smoking is the primary avoidable cause of illness and death in patients with depression, and depression is one of the most consistent risk factors for smoking. The main objective of this study is to investigate the relationship between smoking and depression, analyzing sociodemographic and clinical variables such as severity of symptoms, subtype of affective disorder, and its impact on suicidal behavior in the clinical population. A sample of 201 patients, over 18 years of age [mean age (SD) = 53.76 (10.36) years; women = 132 (65.7%)], with a history of depressive episode (unipolar or bipolar) or dysthymia (ICD 10 criteria) was studied. Current smoking prevalence was 43.2% and life-time prevalence 61.2%. No statistically significant differences in smoking prevalence between men and women were found (X2 = 3.896, p = 0.143). The average age of onset was 17.81 (5.60) years. There was a tendency towards a linear association between number of cigarettes/day consumed and severity of depression according to the Hamilton Depression Scale (HDRS) in current smokers (Pearson’s R = 0.298, p = 0.050). Multinomial logistic regression analysis showed that current tobacco consumption was associated with higher HDRS scores, with each additional point on the HDRS increasing the likelihood of smoking by 0.062 [p = 0.032; OR (95% CI) = 1.064 (1.005-1.125)].Our results showed that depressed patients present higher prevalence of current smoking than the general population, also suggesting a relationship between severity of consumption and severity of depressive symptoms


Tabaquismo y depresión se relacionan de forma bidireccional: el tabaquismo es la primera causa evitable de enfermedad y muerte en pacientes con depresión, y la depresión constituye uno de los factores de riesgo de tabaquismo más consistentes. El principal objetivo del presente trabajo es profundizar en la relación entre tabaquismo y depresión, analizando variables socio-demográficas y clínicas como la gravedad de los síntomas, el subtipo de trastorno afectivo, y su impacto en las conductas suicidas en población clínica. Se estudió una muestra de 201 pacientes, mayores de 18 años [edad media (SD) = 53,76 (10,36) años; mujeres = 132 (65,7%)], con historia de episodio depresivo (unipolar o bipolar) o distimia (criterios CIE 10). La prevalencia de tabaquismo actual fue 43,2% y la prevalencia vida 61,2%, no existiendo diferencias estadísticamente significativas entre hombres y mujeres (X2 = 3,896; p = 0,143). La edad media de inicio fue 17,81 (5,60) años. Se observó tendencia a asociación lineal entre número de cigarrillos/día consumidos y gravedad de la depresión según la Escala de Hamilton para la Depresión (HDRS) en los consumidores actuales de tabaco (R de Pearson = 0,298; p = 0,050). El análisis de regresión logística multinomial puso de manifiesto que el consumo actual de tabaco se asocia con puntuaciones más elevadas en la HDRS, de modo que cada incremento de un punto en dicha escala, la posibilidad de fumar aumenta en 0,062 [p = 0,032; OR (95% CI) = 1,064 (1,005-1,125)]. Nuestros resultados muestran que los pacientes deprimidos presentan mayor prevalencia de consumo actual de tabaco que la población general, sugiriendo además una relación entre gravedad de consumo y gravedad de los síntomas de depresión

17.
Adicciones (Palma de Mallorca) ; 31(1): 52-63, 2019. graf, tab
Artigo em Espanhol | IBECS | ID: ibc-180716

RESUMO

El uso/abuso de alcohol es un problema de salud en los adolescentes. La última Encuesta sobre uso de drogas en Enseñanzas Secundarias realizada en España (ESTUDES 2014-2015), pone de manifiesto que 76,8% de los adolescentes entre 14 y 18 años consumieron alcohol en el último año y 68,2% en el último mes. El principal objetivo es determinar los factores que se asocian con el consumo de alcohol a medio plazo en una muestra de adolescentes españoles. El estudio forma parte del proyecto Saving and Empowering Young Lives in Europe (SEYLE). La muestra final estuvo compuesta por 708 estudiantes, evaluados en dos momentos temporales [basal (T0) y al año (T1)] [varones: 51,98%, edad media basal (DE)=4,43 (0,67)]. Se realizaron análisis de regresión univariante y multivariante, con el fin de investigar las relaciones entre posibles variables predictoras descritas en el momento temporal T0 y el consumo de alcohol en el momento T1.En el momento basal (T0) la prevalencia de abuso de alcohol fue del 25,56%, mientras que la prevalencia al año fue del 49,72% (T1). Las variables que predicen de forma significativa el abuso de alcohol al cabo de un año son: abuso previo del alcohol en el momento T0 (p< 0,001), abuso previo de drogas (p=0,011), padres que asisten a sus competiciones deportivas (p=0,005), problemas de relación con compañeros (p=0,019) y ausencia de comportamiento prosocial (p=0,043). A la vista de nuestros resultados se puede concluir que, en adolescentes, los trastornos externalizantes parecen ser factores determinantes de consumo de alcohol a medio plazo


Alcohol use/abuse is a health problem in adolescents. The last Survey on use of drugs in Secondary Schoolers carried out in Spain (ESTUDES 2014-2015), reveals that 76.8% of adolescents aged 14 to 18 years consumed alcohol in the previous year and 68.2% in the last month. The aim of this study is to determine the medium-term factors associated with alcohol consumption in a sample of Spanish adolescents. The present study was carried out as a part of the Saving and Empowering Young Lives project in Europe (SEYLE) project. The final sample was composed of 708 students, assessed at two times [basal (T0) and one year later (T1)] [males: 51.98%, basal mean age (SD)=4.43 (0.67)]. Univariate and multivariate regression analyses were performed in order to investigate relationships between possible predictive variables found at time T0 and alcohol consumption at time T1. At basal time (T0) the prevalence of alcohol abuse was 25.56%, whereas the prevalence one year later was 49.72% (T1). Variables that significantly predict alcohol abuse within a year are: previous alcohol abuse at T0 (p<0.001), previous abuse of drugs (p=0.011), parents attending their sporting events (p=0.005), peer problems (p=0.019), and lack of prosocial behaviour (p=0.043). In the light of our results, it can be concluded that, in adolescents, externalizing disorders seem to be determining factors of medium-term alcohol consumption


Assuntos
Humanos , Masculino , Feminino , Adolescente , Consumo de Bebidas Alcoólicas/epidemiologia , Consumo de Bebidas Alcoólicas/tendências , Comportamento do Adolescente , Alcoolismo/epidemiologia , Consumo de Bebidas Alcoólicas/prevenção & controle , Estudos Prospectivos , Análise de Regressão , Análise Multivariada
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