956 resultados para Substance-Related Disorders
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Purpose: Most individuals do not perceive a need for substance use treatment despite meeting diagnostic criteria for substance use disorders and they are least likely to pursue treatment voluntarily. There are also those who perceive a need for treatment and yet do not pursue it. This study aimed to understand which factors increase the likelihood of perceiving a need for treatment for individuals who meet diagnostic criteria for substance use disorders in the hopes to better assist with more targeted efforts for gender-specific treatment recruitment and retention. Using Andersen and Newman's (1973/2005) model of individual determinants of healthcare utilization, the central hypothesis of the study was that gender moderates the relationship between substance use problem severity and perceived treatment need, so that women with increasing problems due to their use of substances are more likely than men to perceive a need for treatment. Additional predisposing and enabling factors from Andersen and Newman's (1973/2005) model were included in the study to understand their impact on perceived need. Method: The study was a secondary data analysis of the 2010 National Survey on Drug Use and Health (NSDUH) using logistic regression. The weighted sample consisted of a total 20,077,235 American household residents (The unweighted sample was 5,484 participants). Results of the logistic regression were verified using Relogit software for rare events logistic regression due to the rare event of perceived treatment need (King & Zeng, 2001a; 2001b). Results: The moderating effect of female gender was not found. Conversely, men were significantly more likely than women to perceive a need for treatment as substance use problem severity increased. The study also found that a number of factors such as race, ethnicity, socioeconomic status, age, marital status, education, co-occurring mental health disorders, and prior treatment history differently impacted the likelihood of perceiving a need for treatment among men and women. Conclusion: Perceived treatment need among individuals who meet criteria for substance use disorders is rare, but identifying factors associated with an increased likelihood of perceiving need for treatment can help the development of gender-appropriate outreach and recruitment for social work treatment, and public health messages.
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This review summarizes evidence of dysregulated reward circuitry function in a range of neurodevelopmental and psychiatric disorders and genetic syndromes. First, the contribution of identifying a core mechanistic process across disparate disorders to disease classification is discussed, followed by a review of the neurobiology of reward circuitry. We next consider preclinical animal models and clinical evidence of reward-pathway dysfunction in a range of disorders, including psychiatric disorders (i.e., substance-use disorders, affective disorders, eating disorders, and obsessive compulsive disorders), neurodevelopmental disorders (i.e., schizophrenia, attention-deficit/hyperactivity disorder, autism spectrum disorders, Tourette's syndrome, conduct disorder/oppositional defiant disorder), and genetic syndromes (i.e., Fragile X syndrome, Prader-Willi syndrome, Williams syndrome, Angelman syndrome, and Rett syndrome). We also provide brief overviews of effective psychopharmacologic agents that have an effect on the dopamine system in these disorders. This review concludes with methodological considerations for future research designed to more clearly probe reward-circuitry dysfunction, with the ultimate goal of improved intervention strategies.
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Hereditary hemochromatosis (HH) is an autosomal recessive disorder characterized by excessive iron absorption resulting in pathologically increased body iron stores. It is typically associated with common HFE gene mutation (p.Cys282Tyr and p.His63Asp). However, in Southern European populations up to one third of HH patients do not carry the risk genotypes. This study aimed to explore the use of next-generation sequencing (NGS) technology to analyse a panel of iron metabolism-related genes (HFE, TFR2, HJV, HAMP, SLC40A1, and FTL) in 87 non-classic HH Portuguese patients. A total of 1241 genetic alterations were detected corresponding to 53 different variants, 13 of which were not described in the available public databases. Among them, five were predicted to be potentially pathogenic: three novel mutations in TFR2 [two missense (p.Leu750Pro and p.Ala777Val) and one intronic splicing mutation (c.967-1G>C)], one missense mutation in HFE (p.Tyr230Cys), and one mutation in the 5'-UTR of HAMP gene (c.-25G>A). The results reported here illustrate the usefulness of NGS for targeted iron metabolism-related gene panels, as a likely cost-effective approach for molecular genetics diagnosis of non-classic HH patients. Simultaneously, it has contributed to the knowledge of the pathophysiology of those rare iron metabolism-related disorders.
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artculo -- Universidad de Costa Rica. Centro Investigacin en Biologa Molecular y Celular, 2010. Este documento es privado debido a limitaciones de derechos de autor.
Resumo:
Hereditary hemochromatosis (HH) is an autosomal recessive disorder characterized by excessive iron absorption resulting in pathologically increased body iron stores. It is typically associated with common HFE gene mutation (p.Cys282Tyr and p.His63Asp). However, in Southern European populations up to one third of HH patients do not carry the risk genotypes. This study aimed to explore the use of next-generation sequencing (NGS) technology to analyse a panel of iron metabolism-related genes (HFE, TFR2, HJV, HAMP, SLC40A1, and FTL) in 87 non-classic HH Portuguese patients. A total of 1241 genetic alterations were detected corresponding to 53 different variants, 13 of which were not described in the available public databases. Among them, ve were predicted to be potentially pathogenic: three novel mutations in TFR2 [two missense (p.Leu750Pro and p.Ala777Val) and one intronic splicing mutation (c.967-1GNC)], one missense mutation in HFE (p.Tyr230Cys), and one mutation in the 5-UTR of HAMP gene(c.-25GNA). The results reported here illustrate the usefulness of NGS for targeted iron metabolism-related gene panels, as a likely cost-effective approach for molecular genetics diagnosis of non-classic HH patients. Simultaneously, it has contributed to the knowledge of the pathophysiology of those rare iron metabolism-related disorders.
Resumo:
Purpose: Most individuals do not perceive a need for substance use treatment despite meeting diagnostic criteria for substance use disorders and they are least likely to pursue treatment voluntarily. There are also those who perceive a need for treatment and yet do not pursue it. This study aimed to understand which factors increase the likelihood of perceiving a need for treatment for individuals who meet diagnostic criteria for substance use disorders in the hopes to better assist with more targeted efforts for gender-specific treatment recruitment and retention. Using Andersen and Newmans (1973/2005) model of individual determinants of healthcare utilization, the central hypothesis of the study was that gender moderates the relationship between substance use problem severity and perceived treatment need, so that women with increasing problems due to their use of substances are more likely than men to perceive a need for treatment. Additional predisposing and enabling factors from Andersen and Newmans (1973/2005) model were included in the study to understand their impact on perceived need. Method: The study was a secondary data analysis of the 2010 National Survey on Drug Use and Health (NSDUH) using logistic regression. The weighted sample consisted of a total 20,077,235 American household residents (The unweighted sample was 5,484 participants). Results of the logistic regression were verified using Relogit software for rare events logistic regression due to the rare event of perceived treatment need (King & Zeng, 2001a; 2001b). Results: The moderating effect of female gender was not found. Conversely, men were significantly more likely than women to perceive a need for treatment as substance use problem severity increased. The study also found that a number of factors such as race, ethnicity, socioeconomic status, age, marital status, education, co-occurring mental health disorders, and prior treatment history differently impacted the likelihood of perceiving a need for treatment among men and women. Conclusion: Perceived treatment need among individuals who meet criteria for substance use disorders is rare, but identifying factors associated with an increased likelihood of perceiving need for treatment can help the development of gender-appropriate outreach and recruitment for social work treatment, and public health messages.
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Objetivo: El propsito del estudio fue describir estadsticamente las etapas de cambio comportamental frente al consumo de sustancias psicoactivas SPA (alcohol, tabaco y drogas ilegales) en escolares entre 9 y 17 aos de Bogot- Colombia, pertenecientes al estudio FUPRECOL. Mtodo: Se trata de un estudio descriptivo y transversal en 6.965 nios y adolescentes entre 9 y 17 aos, pertenecientes a 24 instituciones educativas oficiales de Bogot - Colombia. La medicin de los procesos de cambio propuestos por el Modelo Transterico (MTT), aplicados al consumo de drogas, tabaco y alcohol se aplicaron de manera auto-diligenciada mediante un cuestionario estructurado. Resultados: De la muestra evaluada, el 58,4% fueron mujeres con un promedio de edad 12,74 2.38 aos. En la poblacin en general, frente al consumo de drogas, el 6% de los escolares se encontraban en etapa de pre-contemplacin, 44 % en contemplacin; 30% en preparacin/accin, 20% en mantenimiento. Con relacin al consumo de alcohol, el 5% de los nios y adolescentes se encontraban en etapa de pre-contemplacin, 36 % en contemplacin; 12% en preparacin/accin, 46% en mantenimiento. Frente al tabaco, el 4% de los nios y adolescentes se encontraban en etapa de pre-contemplacin, 33 % en contemplacin; 12% en preparacin/accin, 51% en mantenimiento. Conclusiones: En los escolares evaluados, un importante porcentaje se ubica en la etapa de mantenimiento frente a la intencin de consumo de tabaco y alcohol. Frente al consumo de drogas ilegales los nios y adolescentes estn en la etapa de contemplacin. Se requieren esfuerzos mayores para fomentar programas preventivos que enseen sobre el riesgo del abuso/dependencia de este tipo de sustancias psicoactiva sobre la salud; dndole prioridad en las agendas y polticas pblicas dentro del mbito escolar.
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The aim of the study was to develop a culturally adapted translation of the 12-item smell identification test from Sniffin' Sticks (SS-12) for the Estonian population in order to help diagnose Parkinson's disease (PD). A standard translation of the SS-12 was created and 150 healthy Estonians were questioned about the smells used as response options in the test. Unfamiliar smells were replaced by culturally familiar options. The adapted SS-12 was applied to 70 controls in all age groups, and thereafter to 50 PD patients and 50 age- and sex-matched controls. 14 response options from 48 used in the SS-12 were replaced with familiar smells in an adapted version, in which the mean rate of correct response was 87% (range 73-99) compared to 83% with the literal translation (range 50-98). In PD patients, the average adapted SS-12 score (5.4/12) was significantly lower than in controls (average score 8.9/12), p < 0.0001. A multiple linear regression using the score in the SS-12 as the outcome measure showed that diagnosis and age independently influenced the result of the SS-12. A logistic regression using the SS-12 and age as covariates showed that the SS-12 (but not age) correctly classified 79.0% of subjects into the PD and control category, using a cut-off of <7 gave a sensitivity of 76% and specificity of 86% for the diagnosis of PD. The developed SS-12 cultural adaption is appropriate for testing olfaction in Estonia for the purpose of PD diagnosis.
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Primary craniocervical dystonia (CCD) is generally attributed to functional abnormalities in the cortico-striato-pallido-thalamocortical loops, but cerebellar pathways have also been implicated in neuroimaging studies. Hence, our purpose was to perform a volumetric evaluation of the infratentorial structures in CCD. We compared 35 DYT1/DYT6 negative patients with CCD and 35 healthy controls. Cerebellar volume was evaluated using manual volumetry (DISPLAY software) and infratentorial volume by voxel based morphometry of gray matter (GM) segments derived from T1 weighted 3 T MRI using the SUIT tool (SPM8/Dartel). We used t-tests to compare infratentorial volumes between groups. Cerebellar volume was (1.14 0.17) 10(2) cm(3) for controls and (1.13 0.14) 10(2) cm(3) for patients; p = 0.74. VBM demonstrated GM increase in the left I-IV cerebellar lobules and GM decrease in the left lobules VI and Crus I and in the right lobules VI, Crus I and VIIIb. In a secondary analysis, VBM demonstrated GM increase also in the brainstem, mostly in the pons. While gray matter increase is observed in the anterior lobe of the cerebellum and in the brainstem, the atrophy is concentrated in the posterior lobe of the cerebellum, demonstrating a differential pattern of infratentorial involvement in CCD. This study shows subtle structural abnormalities of the cerebellum and brainstem in primary CCD.
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The pathological mechanisms underlying cognitive dysfunction in multiple sclerosis (MS) are not yet fully understood and, in addition to demyelinating lesions and gray-matter atrophy, subclinical disease activity may play a role. To evaluate the contribution of asymptomatic gadolinium-enhancing lesions to cognitive dysfunction along with gray-matter damage and callosal atrophy in relapsing-remitting MS (RRMS) patients. Forty-two treated RRMS and 30 controls were evaluated. MRI (3T) variables of interest were brain white-matter and cortical lesion load, cortical and deep gray-matter volumes, corpus callosum volume and presence of gadolinium-enhancing lesions. Outcome variables included EDSS, MS Functional Composite (MSFC) subtests and the Brief Repeatable Battery of Neuropsychological tests. Cognitive dysfunction was classified as deficits in two or more cognitive subtests. Multivariate regression analyses assessed the contribution of MRI metrics to outcomes. Patients with cognitive impairment (45.2%) had more cortical lesions and lower gray-matter and callosal volumes. Patients with subclinical MRI activity (15%) had worse cognitive performance. Clinical disability on MSFC was mainly associated with putaminal atrophy. The main independent predictors for cognitive deficits were high burden of cortical lesions and number of gadolinium-enhancing lesions. Cognitive dysfunction was especially related to high burden of cortical lesions and subclinical disease activity. Cognitive studies in MS should look over subclinical disease activity as a potential contributor to cognitive impairment.
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Populaes migrantes representam oportunidade para se investigar a contribuio de fatores ambientais na gnese da obesidade e suas comorbidades. Em 1993, o Japanese-Brazilian Diabetes Study Group estudou a prevalncia de diabetes e doenas associadas em nipo-brasileiros residentes em Bauru, SP. Utilizando critrios especficos para asiticos, 22,4% dos nipo-brasileiros foram caracterizados como portadores de excesso de peso nessa primeira fase do estudo. Na segunda fase, em 2000, essa prevalncia subiu para 44,2%, e 50,3% apresentavam obesidade central. Essa populao tambm apresentava alta prevalncia de diabetes tipo 2, hipertenso e dislipidemia, componentes da sndrome metablica. O JBDS Group tambm mostrou a associao entre hbitos ocidentais, especialmente alimentao rica em gordura saturada, e a ocorrncia de sndrome metablica. Em 2005, motivado por esses achados, o JBDS Group iniciou a terceira fase do estudo que constou de programa de interveno com base em orientao para dieta saudvel e prtica de atividade fsica, utilizando recursos factveis em termos de sade pblica no Brasil. Aps um ano de interveno, o JBDS Group observou diminuio nos parmetros antropomtricos, presso arterial e nveis de glicemia e colesterol. Tempo de acompanhamento maior necessrio para avaliar a persistncia desses benefcios e o impacto deles no risco de desenvolver diabetes e eventos cardiovasculares.
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Background: The American Heart Association/National Heart, Lung, and Blood Institute (AHA/NHLBI), revising the National Cholesterol Evaluation Program for Adult Treatment Panel III (NCEP ATP III), and the International Diabetes Federation (IDF) have proposed definitions of metabolic syndrome that take into account waist circumference thresholds according to ethnicity. In this study we estimated the prevalence of metabolic syndrome in a Japanese-Brazilian population using NCEP definitions for Westerners (NCEPwe) and Asians (NCEPas), and IDF for Japanese (IDF). Methods: A total of 650 Japanese-Brazilians living in a developed Brazilian city and aged 30-88 years were included. Results: Metabolic syndrome prevalence according to NCEPwe, NCEPas, and IDF was, respectively, 46.5%, 56.5%, and 48.3%. Only 43.5% of subjects did not have metabolic syndrome by any of the 3 definitions, and 38.3% fulfilled metabolic syndrome criteria for all 3 definitions. Ten percent of subjects were positive for metabolic syndrome based on NCEPas and IDF, but not for NCEPwe. Because IDF requires abdominal obesity as a criterion, the frequency of subjects without metabolic syndrome according to IDF, but with metabolic syndrome by NCEPwe and NCEPas was 8.2%. Conclusions: Independent of the metabolic syndrome definition, Japanese-Brazilians present an elevated metabolic syndrome prevalence, which was higher when using NCEP criteria for Asians, followed by the IDF definition for Japanese.