A influência genética sobre a memória humana: uma revisão

The acquisition, storage and recall of information are important process to memory formation. Age-associated memory impairment was described by the first time in 1986 by National Institute of Mental Health, and potentials risk factors have been investigated, both environmental and genetics. Once the number of studies about the genetic influence on memory impairment is increasing in the last years, the objective of this work is to review the available results about the subject. A systematic review was done, including papers that investigated the association among genetic variants and memory scores. It was included results of all papers found in the PubMed database since 2000. The literature show that genes related to lipid transport in the nervous system (APOE e APOC1), to serotonin (HTR2A e 5-HTTLRP), to dopamine (DRD1, DRD3, DRD4, COMT e DAT) and to other neurobiology related functions (BDNF e ECA) were associated to some memory injury. Once the genetic profile is determined to the population, it is very important to verify the interaction among studied genes, besides between these genes and different environmental factors on memory impairment susceptibility. These kind of data will make possible personalized intervention strategies to each situation, mitigating the effect of these variables on mental health.A aquisição, armazenamento e evocação de informações são processos importantes para a formação da memória. O déficit de memória associado ao envelhecimento foi descrito em 1986 pelo National Institute of Mental Health, e potenciais fatores de risco têm sido investigados, tanto ambientais como genéticos. Assim, o número de trabalhos investigando a influência genética sobre déficit de memória vem crescendo nos últimos anos, com publicações indicando a influência de uma série de genes. Portanto, foi realizada uma revisão sistemática de artigos que investigaram a associação de variantes genéticas e escores de memória. Foram incluídos resultados de todos os artigos encontrados na base de dados Pubmed desde o ano de 2000. A literatura demonstra que genes relacionados ao transporte de lipídios no sistema nervoso (APOE e APOC1), à serotonina (HTR2A e 5-HTTLRP), à dopamina (DRD1, DRD3, DRD4, COMT e DAT) e a outras funções relacionadas à neurobiologia (BDNF e ECA) foram associados a algum prejuízo na memória. Uma vez determinado o perfil genético da população, é de grande importância verificar a interação entre os genes estudados, bem como entre estes genes e fatores ambientais diversos na suscetibilidade ao déficit de memória, possibilitando estratégias de intervenção personalizadas para cada situação, atenuando os efeitos destas variáveis sobre a saúde mental.

Nutrigenética: a interação entre hábitos alimentares e o perfil genético individual

 Diseases as atherosclerosis, diabetes, obesity and cancer are big public health problems, to which diet has a strong influence. However, recent studies show that people do not answer in the same way to a food habit. Nutrigenetics is based in observations of the individual answers to dietary interventions, and also in hipotesis that this diferences are associated to presence or absence of specific biological markers. Although the birth of this field has been ocurred with the studies of mutations causing monogenic disorders, currently the focus is on genetic polymorphisms that could predict the individual answer to diet. So, the field of nutrigenetics of multifactorial characteristics is on large expansion, with a big number of published articles by several research groups in the world. With the aim of presenting this research field to those working with nutrition and public health, and enable the knowledge of the most recent published data on international literature, this article reviews available results about nutrigenetics and its influence on the lipid profile, weight loss, type 2 diabetes mellitus and cancer. Doenças como aterosclerose, diabetes, obesidade e câncer são importantes problemas de saúde publica, para as quais a dieta possui uma forte influência. No entanto, estudos recentes demonstram que nem todos respondem da mesma maneira ao mesmo hábito alimentar. A nutrigenética é baseada em observações das respostas individuais à determinada modificação na dieta e também em hipóteses que estas diferentes respostas sejam associadas à presença ou ausência de marcadores biológicos específicos. Embora o nascimento desta área tenha ocorrido inicialmente com o estudo de mutações causadoras de doenças monogênicas, atualmente o foco se encontra em polimorfismos genéticos, que poderiam, então, predizer a resposta individual à dieta. Desta maneira, a nutrigenética de características multifatorias está em grande expansão, com um grande número de trabalhos sendo publicados por vários grupos de pesquisa do mundo. Com o objetivo de apresentar este campo de pesquisa aos profissionais que trabalham com nutrição e saúde pública, e possibilitar o conhecimento dos mais recentes dados publicados na literatura internacional, este artigo revisa os resultados disponíveis sobre nutrigenética e sua influência em características como o perfil lipídico, perda de peso, diabetes mellitus tipo 2, dano de DNA e câncer

Childhood trauma subtypes may influence the pattern of substance use and preferential substance in men with alcohol and/or crack-cocaine addiction

Objective: To compare the prevalence and subtypes of childhood maltreatment (CM) between individuals with and without substance use disorder (SUD) and investigate the influence of different traumas on the preferential use of substances and the severity of dependence. Methods: The sample consisted of 1,040 men with SUD (alcohol users [n=315], crack-cocaine users [n=406], multiple-substance users [n=319]) and 201 controls. The Childhood Trauma Questionnaire (CTQ) and the Addiction Severity Index-6 (ASI-6) were used to assess CM and drug-use patterns. Results: Individuals with SUD had a higher prevalence of CM than controls (63.4 vs. 28.1%, respectively). Exposure to physical trauma was associated with alcohol use disorder and severity of alcohol use. In contrast, emotional trauma was associated with use of multiple substances and severity of drug use in crack-cocaine users. Conclusions: This study corroborates the association of CM with SUD susceptibility. Our results suggest that the type of CM may influence preferential substance use and addiction severity. In this sense, physical traumas are more associated with alcohol use, while emotional and sexual traumas favor use of multiple drugs, especially crack cocaine. These findings may help the development of tailored prevention and intervention strategies

O fenótipo ampliado do autismo em genitores de crianças com transtorno do espectro do autismo

Researchers have identified milder expressions of Autism Spectrum Disorder in parents and siblings of theseindividuals, which are defined as broader autism phenotype (BAP). This study investigated the personality profile of 20 parentsof children diagnosed with ASD. The Factor Personality Battery and the Broad Autism Phenotype Questionnaire were used.The results indicate the presence of some personality traits that might somewhat correspond to the areas of impairment presentin ASD individuals. These findings point to a promising field of study, especially due to the use of a Brazilian instrument, notyet employed in research in the area of autism.Pesquisadores têm identificado expressões mais leves de traços do Transtorno do Espectro do Autismo (e.g. traços de personalidade) em pais e irmãos destes indivíduos, que são definidas como fenótipo ampliado do autismo (FAA). Este estudo investigou o perfil de personalidade de 20 genitores de crianças com o diagnóstico de TEA, utilizando a Bateria Fatorial de Personalidade e o Broad Autism Phenotype Questionnaire. Os resultados apontam para a presença de alguns traços de personalidade (ex: tendência à rigidez e ao retraimento social) que podem, em alguma medida, corresponder às áreas de comprometimento presentes no TEA. Estes achados refletem uma área promissora de estudos no Brasil, sobretudo porque se utilizou um instrumento brasileiro, ainda não empregado em investigações na área do autismo

Prevalence of suicide in cocaine users accessing health services : a systematic review and meta-analysis

Objective: This study reviewed and analyzed the prevalence of suicidal behaviors among cocaine users who sought health services. Methods: This is a systematic review and meta-analysis of studies published until January 2021. PubMed/MEDLINE, Scopus, Embase, PsycINFO, and LILACS were searched. The inclusion criteria were observational (retrospective or prospective), case-control, and/or cross-sectional reports that contained samples of cocaine users aged over 14 years who were assessed in health facilities or were in treatment. The random-effects model was used to calculate the overall prevalence of suicidal behavior with a 95% confidence interval. Subgroup analysis was conducted to investigate sources of heterogeneity. Results: Twenty articles were included, yielding a total of 2,252 cocaine users. The estimated prevalence was 43.59% (95%CI 31.10-57.38) for suicidal ideation and 27.71% (95%CI 21.63-34.73) for suicide attempts. High heterogeneity was found between studies for both outcomes (I2 X 93%), although subgroup analysis considering the quality of the studies showed a significant difference in suicide attempts (p = 0.03). Conclusion: Cocaine use can be considered a risk factor for suicidal behavior, and prevention and early screening measures should be implemented to facilitate adequate treatment

Early discharge predictors among inpatient crack cocaine users

Introduction: High rates of early hospital discharge are often observed in crack cocaine users and are related to adverse outcomes and increased public spending. This study evaluated clinical and sociodemographic factors associated with early treatment discharge among crack users. Methods: The sample comprised 308 men diagnosed with crack cocaine use disorder (crack only), aged 18 to 65 years, admitted between 2013 and 2017 to a male-only hospital unit to treat substance use disorders. Sociodemographic and clinical data were obtained using the Addiction Severity Index, 6th version, and a Sociodemographic Questionnaire. Results: Early discharge (within 7 days) was significantly associated with lack of own income, insufficient family support, being single, and recent homelessness. Regarding drug use, lower treatment retention was related to younger age of crack use onset, recent alcohol use, and nicotine use. Factors such as age, skin color, and educational level showed no relation to the outcome. Conclusion: Our findings suggest that presence of characteristics verifiable at the time of admission may be related to crack users’ treatment retention. Identification of these factors can contribute to target interventions in order to improve treatment adherence in crack cocaine users