RESUMO
A sobrevivência ao câncer de mama é um problema de saúde pública que demanda serviços especializados com foco na reabilitação psicossocial. Entre as necessidades identificadas nesse contexto está o incentivo à adoção de estratégias de promoção de autocuidados pelas mulheres. Uma das estratégias adotadas consiste no grupo de apoio psicológico, que auxilia as pacientes a enfrentar a longa jornada do tratamento. Assim, o objetivo deste estudo é compreender os significados produzidos por mulheres com câncer de mama sobre sua participação em um grupo de apoio. Trata-se de um estudo qualitativo, descritivo e exploratório realizado com dez mulheres com câncer de mama usuárias de um serviço de reabilitação para mastectomizadas. Como referencial metodológico foi utilizada a Teoria Fundamentada nos Dados. A coleta de dados foi realizada por meio de entrevista aberta em profundidade e os conteúdos foram transcritos e codificados. A análise indutiva e o método de comparação constante foram aplicados nos processos de codificação aberta, axial e seletiva, que permitiram identificar três categorias nucleares: percepção das atividades realizadas no grupo, identificação de benefícios e barreiras do convívio no grupo e transformações decorrentes da participação. As participantes significaram sua presença no grupo como fonte de acolhimento, apoio, desenvolvimento de recursos pessoais e amizades, contribuindo para promover sua qualidade de sobrevida. Além dos potenciais benefícios, também foram identificadas barreiras que podem dificultar a adesão e continuidade da participação no grupo, o que sugere a necessidade de incorporar no cuidado um olhar para as dimensões subjetivas da saúde da mulher.(AU)
Surviving breast cancer is a public health problem and depends on services focused on psychosocial rehabilitation. Healthcare providers must encourage women to adopt strategies to promote their self-care. The psychological support group is a resource that helps women to face the long journey of treatment. This study aimed to understand the meanings women with breast cancer produced about their participation in a support group. This exploratory cross-sectional study was carried out with 10 women with breast cancer who use a rehabilitation service for mastectomized patients. Grounded Theory was used as a methodological reference. An open in-depth interview was applied for data collection. The contents were transcribed and coded. Inductive analysis and the constant comparison method were applied in the open, axial, and selective coding processes, which enabled the identification of three core categories: perception of the activities carried out in the group, identification of benefits and barriers of living in the group, and transformations resulting from participation. Participants denote their involvement with the group as a source of shelter, support, development of personal resources and friendships that helps promoting quality of life. Besides these potential benefits, participants also evinced barriers that can hinder adherence and continuity of participation in the group, suggesting the importance of incorporating a look at the subjective dimensions of women's health into care.(AU)
Sobrevivir al cáncer de mama es un problema de salud pública que depende de los servicios centrados en la rehabilitación psicosocial. Entre las necesidades identificadas en esta materia se encuentra el uso de estrategias para promover el autocuidado. Uno de los recursos que ayuda a afrontar el largo camino del tratamiento es el grupo de apoyo psicológico. El objetivo de este estudio es conocer los significados que producen las mujeres con cáncer de mama sobre su participación en un grupo de apoyo. Se trata de un estudio cualitativo, descriptivo y exploratorio, realizado con diez mujeres con cáncer de mama usuarias de un servicio de rehabilitación para mastectomizadas. Como referencia metodológica se utilizó la teoría fundamentada en los datos. Se aplicó una entrevista abierta en profundidad para la recogida de datos, cuyos contenidos fueron transcritos y codificados. El análisis inductivo y el método de comparación constante se aplicaron en los procesos de codificación abierta, axial y selectiva, lo que permitió identificar tres categorías centrales: percepción de las actividades realizadas en el grupo, identificación de los beneficios y las barreras de vivir en el grupo y transformaciones resultantes de la participación. Las mujeres denotan su participación en el grupo como una fuente de acogida, apoyo, desarrollo de recursos personales y amistades, que ayuda a promover la calidad de vida. Además de los beneficios potenciales, también se identificaron barreras que pueden dificultar la adherencia y continuidad de la participación en el grupo, lo que sugiere la necesidad de incorporar en la atención una mirada centrada en las dimensiones subjetivas de la salud de las mujeres.(AU)
Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Idoso , Psicoterapia de Grupo , Grupos de Autoajuda , Neoplasias da Mama , Saúde Mental , Teoria Fundamentada , Enfermagem Oncológica , Ansiedade , Transtornos de Ansiedade , Processos Patológicos , Equipe de Assistência ao Paciente , Satisfação Pessoal , Exame Físico , Psicologia , Desempenho Psicomotor , Radioterapia , Relaxamento , Religião , Autocuidado , Unidades de Autocuidado , Autoimagem , Transtornos do Sono-Vigília , Responsabilidade Social , Apoio Social , Socialização , Fatores Socioeconômicos , Estresse Fisiológico , Conscientização , Yoga , Terapias Complementares , Doenças Mamárias , Atividades Cotidianas , Institutos de Câncer , Luto , Serviços de Saúde da Mulher , Pesar , Mamografia , Biomarcadores , Exercício Físico , Mastectomia Segmentar , Família , Terapia Cognitivo-Comportamental , Taxa de Sobrevida , Fatores de Risco , Morbidade , Mortalidade , Amplitude de Movimento Articular , Autoexame , Resultado do Tratamento , Transtorno de Pânico , Mamoplastia , Autoexame de Mama , Assistência Integral à Saúde , Meditação , Quimioprevenção , Vida , Implante Mamário , Senso de Humor e Humor , Terapia Neoadjuvante , Terapia de Reposição Hormonal , Legislação Referente à Liberdade de Escolha do Paciente , Intervenção em Crise , Cistos , Autonomia Pessoal , Morte , Disseminação de Informação , Comunicação Interdisciplinar , Hereditariedade , Depressão , Transtorno Depressivo , Diagnóstico , Tratamento Farmacológico , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos , Emoções , Terapia Familiar , Detecção Precoce de Câncer , Fadiga , Resiliência Psicológica , Fertilidade , Terapia de Alvo Molecular , Catastrofização , Quimiorradioterapia , Coragem , Ajustamento Emocional , Autocontrole , Dor do Câncer , Estilo de Vida Saudável , Oncologia Cirúrgica , Sistemas de Apoio Psicossocial , Sobrevivência , Psico-Oncologia , Mentalização , Crescimento Psicológico Pós-Traumático , Tristeza , Regulação Emocional , Angústia Psicológica , Exercício Pré-Operatório , Terapia Baseada em Meditação , Apoio Familiar , Bem-Estar Psicológico , Capacidades de Enfrentamento , Exaustão Emocional , Promoção da Saúde , Saúde Holística , Serviços Técnicos Hospitalares , Imunoterapia , Atividades de Lazer , Acontecimentos que Mudam a Vida , Estilo de Vida , Mastectomia , Oncologia , Transtornos Mentais , Estadiamento de NeoplasiasRESUMO
A tese versa sobre a susceptibilidade hereditária para o câncer de mama sob um olhar socioantropológico. O tema apresenta relevância em função da atual valorização da genética na área da oncologia e dos impactos que esse campo da medicina produz na vida das pessoas e famílias envolvidas. A partir de uma produção etnográfica, buscou-se compreender como a prática do aconselhamento genético interfere em diversos planos da vida de mulheres com câncer de mama hereditário, como o psicoafetivo, social e familiar, atendidas por um instituto oncológico de pesquisa, pertencente ao setor privado de saúde. Para investigação metodológica, utilizou-se um conjunto de dados empíricos: entrevistas semiestruturadas com mulheres com (suspeita de) câncer de mama hereditário, observação de consultas com o serviço de genética e documentos online relativos à hereditariedade da doença na mama. Como resultados, constatou-se de que modos às percepções biomédicas acerca da noção de risco atravessaram a produção de subjetividades, identidades e coletividades das interlocutoras. Outros pontos explorados nas narrativas foram: as repercussões, individuais e coletivas, ocasionadas pela experiência do aconselhamento genético e o entrelaçamento da doença e da hereditariedade a outras vivências de cunho individual. O estudo visou contribuir a dar visibilidade às experiências e as demandas das mulheres investigadas e somar aos estudos risco, biotecnologias e subjetividades.AU
This thesis is about hereditary susceptibility to breast cancer from a socio-anthropological perspective. The theme is relevant due to the current appreciation of the genetics field in the oncological area and the impact on the lives of people and families involved. From an ethnographical starting point, how genetic counselling interferes with the life planning of women with hereditary breast cancer breast in areas such as psycho-affective, social and familiar. The search was conducted in an oncological research institute that belongs to the private healthcare system. For the methodological research, it was used a set of empirical data: semi-structured interviews with (suspected) hereditary breast cancer; participant observation of genetic consultations and online documents related to the heredity of the disease in the breast. As result, it has been noticed how the biomedical perceptions about the notion of risk cross through to the interlocutors' subjective productions, identities and sense of collective. Another aspect of the narratives is the relationship of genetics with oncological illness. It also stands out the individual and collective repercussions caused by the experience of genetic counselling and the intertwining of the disease and heredity with other individual experiences. The study aimed to contribute to giving visibility to the experiences and demands of the women investigated and also to add studies of the risk, biotechnologies and subjectivities.AU
La tesis aborda la susceptibilidad hereditaria al cáncer de mama desde una perspectiva socio-antropológica. El tema es relevante debido a la actual valorización de la genética en el área de la oncología y a los impactos que ese campo de la medicina tiene en la vida de las personas y familias. Con base en una producción etnográfica, buscamos comprender cómo la práctica del asesoramiento genético interfiere en diferentes áreas de la vida de mujeres con cáncer de mama hereditario, como el psicoafectivo, social y familiar, asistidas por un instituto de investigación oncológica, perteneciente al sector privado del cuidado de la salud. La investigación se fundamenta en un conjunto de datos empíricos: entrevistas semiestructuradas con mujeres con (sospecha de) cáncer de mama hereditario, observación de consultas en el servicio de genética y documentos en línea relacionados con la herencia familiar de la enfermedad. Como resultado, se constató como las percepciones sobre la biomedicina sobre la noción de riesgo atraviesan la producción de subjetividades, identidades y colectividades de las interlocutoras. Otros puntos explorados en las narrativas fueron: las repercusiones individuales y colectivas provocadas por la experiencia de la consejería genética y el entrelazamiento de la enfermedad y la herencia con otras experiencias de carácter individual. El estudio pretendió dar visibilidad a las experiencias y demandas de las mujeres investigadas y contribuir a los estudios sobre riesgo, biotecnologías y subjetividades. AU
Assuntos
Humanos , Feminino , Neoplasias da Mama , Hereditariedade/genética , Suscetibilidade a Doenças , Aconselhamento Genético , Oncologia , Mulheres , Sistema Único de Saúde , Brasil , Narrativa PessoalAssuntos
Programas de Triagem Diagnóstica/economia , Custos de Cuidados de Saúde , Infecções por Helicobacter/diagnóstico , Infecções por Helicobacter/tratamento farmacológico , Infecções por Helicobacter/economia , Helicobacter pylori/efeitos dos fármacos , Neoplasias Gástricas/economia , Neoplasias Gástricas/prevenção & controle , Adulto , Idoso , Idoso de 80 Anos ou mais , Testes Respiratórios/economia , Redução de Custos , Análise Custo-Benefício , Custos de Medicamentos , Feminino , Predisposição Genética para Doença , Nível de Saúde , Infecções por Helicobacter/microbiologia , Helicobacter pylori/patogenicidade , Hereditariedade , Humanos , Testes Imunológicos/economia , Masculino , Cadeias de Markov , Pessoa de Meia-Idade , Modelos Econômicos , Linhagem , Valor Preditivo dos Testes , Qualidade de Vida , Anos de Vida Ajustados por Qualidade de Vida , Medição de Risco , Fatores de Risco , Neoplasias Gástricas/genética , Neoplasias Gástricas/microbiologia , Fatores de Tempo , Resultado do TratamentoRESUMO
Our understanding of the interactions between genetic and environmental factors in shaping behavioral phenotypes has expanded to include environment-induced epigenetic modifications and the intriguing possibility of their association with heritable behavioral phenotypes. The molecular basis of heritability of phenotypes arising from environment-induced epigenetic modifications is not well defined yet. However, phenomenological evidence in favor of it is accumulating rapidly. The resurgence of interest has led to focus on epigenetic modification of germ cells as a plausible mechanism of heritability. Perhaps partly because of practical reasons such as ease of access to male germ cells compared to female germ cells, attention has turned toward heritable effects of environmental influences on male founders. Public health implications of heritable effects of paternal exposures to addictive substances or to psycho-social factors may be enormous. Considering nicotine alone, over a billion people worldwide use nicotine-containing products, and the majority are men. Historically, the adverse effects of nicotine use by pregnant women received much attention by scientists and public policy experts alike. The implications of nicotine use by men for the physical and mental well-being of their children were not at the forefront of research until recently. Here, we review progress in the emerging field of heritable effects of paternal nicotine exposure and its implications for behavioral health of individuals in multiple generations.
Assuntos
Hereditariedade , Nicotina/efeitos adversos , Exposição Paterna/efeitos adversos , Humanos , MasculinoRESUMO
Twenty-four palaeogenomes from Mokrin, a major Early Bronze Age necropolis in southeastern Europe, were sequenced to analyse kinship between individuals and to better understand prehistoric social organization. 15 investigated individuals were involved in genetic relationships of varying degrees. The Mokrin sample resembles a genetically unstructured population, suggesting that the community's social hierarchies were not accompanied by strict marriage barriers. We find evidence for female exogamy but no indications for strict patrilocality. Individual status differences at Mokrin, as indicated by grave goods, support the inference that females could inherit status, but could not transmit status to all their sons. We further show that sons had the possibility to acquire status during their lifetimes, but not necessarily to inherit it. Taken together, these findings suggest that Southeastern Europe in the Early Bronze Age had a significantly different family and social structure than Late Neolithic and Early Bronze Age societies of Central Europe.
Assuntos
Relações Familiares , Genética Populacional , Genoma Humano , Hereditariedade , Distância Psicológica , Classe Social/história , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Seguimentos , História Antiga , Migração Humana , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Taxa de Sobrevida , Adulto JovemRESUMO
With the economic development and living standards improvement, various chronic viral liver diseases in children is decreasing year by year, and the liver diseases related to heredity, environment and living habits is increasing. Although liver disease in children is relatively rare and is not the main cause of childhood mortality, chronic liver disease cannot be ignored for its effect on children's growth and development, mental health, quality of life and the economic burden to family or society. Therefore, more attention should be paid to the early screening, diagnosis and treatment of pediatric liver diseases, in order to delay or prevent its progression efficiently.
Assuntos
Hereditariedade , Hepatopatias , Criança , Progressão da Doença , Humanos , Hepatopatias/diagnóstico , Hepatopatias/epidemiologia , Qualidade de VidaRESUMO
The diversity of genetic and non-genetic processes that make offspring resemble their parents are increasingly well understood. In addition to genetic inheritance, parent-offspring similarity is affected by epigenetic, behavioural and cultural mechanisms that collectively can be referred to as non-genetic inheritance. Given the generality of the Price equation as a description of evolutionary change, is it not surprising that the Price equation has been adopted to model the evolutionary implications of non-genetic inheritance. In this paper, we briefly introduce the heredity perspectives on which those models rely, discuss the extent to which these perspectives make different assumptions and place different emphases on the roles of heredity and development in evolution, and the types of empirical research programmes they motivate. The existence of multiple perspectives and explanatory aims highlight, on the one hand, the versatility of the Price equation and, on the other hand, the importance of understanding how heredity and development can be conceptualized in evolutionary studies. This article is part of the theme issue 'Fifty years of the Price equation'.
Assuntos
Evolução Biológica , Genética Populacional/métodos , Modelos Genéticos , Seleção Genética , Epistasia Genética , HereditariedadeRESUMO
Two prominent theoretical frameworks in moral psychology, Moral Foundations and Dual Process Theory, share a broad foundational assumption that individual differences in human morality are dispositional and in part due to genetic variation. The only published direct test of heritability, however, found little evidence of genetic influences on moral judgments using instrumentation approaches associated with Moral Foundations Theory. This raised questions about one of the core assumptions underpinning intuitionist theories of moral psychology. Here we examine the heritability of moral psychology using the moral dilemmas approach commonly used in Dual Process Theory research. Using such measures, we find consistent and significant evidence of heritability. These findings have important implications not only for understanding which measures do, or do not, tap into the genetically influenced aspects of moral decision-making, but in better establishing the utility and validity of different intuitionist theoretical frameworks and the source of why people differ in those frameworks.
Assuntos
Hereditariedade , Princípios Morais , Adolescente , Adulto , Tomada de Decisões , Humanos , Teoria Psicológica , Fatores Socioeconômicos , Adulto JovemRESUMO
The diamondback moth, Plutella xylostella (Lepidoptera: Plutellidae), is one of the main pests of Brassica crops worldwide. Management of P. xylostella is particularly challenging, as different field populations have readily acquired resistance to a wide range of insecticides, including Bacillus thuringiensis (Bt) toxins. In this study, a novel strain of P. xyllostela (Fuzhou-R2Ad) with 120-fold resistance to Bt Cry2Ad was selected in the laboratory, after screening for 66 generations from the susceptible strain Fuzhou-S. In the absence of Bt Cry2Ad toxin, the Fuzhou-R2Ad had significantly lower fitness as compared to the susceptible strain, which might be related to induced genetic changes to Bt toxins. We used several models to measure the dominance levels of insecticide resistance among different strains and found an incompletely recessive inheritance pattern of the Fuzhou-R2Ad resistance, which might be controlled by multiple genes. This study constitutes the first report of laboratory-acquired resistance to Cry2Ad toxin in P. xylostella. Our work presents further insights into the mechanism of Bt resistance and has immediate implications for the integrated pest management of P. xylostella globally.
Assuntos
Proteínas de Bactérias/farmacologia , Endotoxinas/farmacologia , Proteínas Hemolisinas/farmacologia , Resistência a Inseticidas/genética , Inseticidas/farmacologia , Mariposas/genética , Controle Biológico de Vetores/métodos , Animais , Toxinas de Bacillus thuringiensis , Brassica/parasitologia , Produtos Agrícolas/parasitologia , Aptidão Genética/efeitos dos fármacos , Hereditariedade/efeitos dos fármacos , Mariposas/efeitos dos fármacosRESUMO
BACKGROUND: Sulfoxaflor has been considered as a new tool for Nilaparvata lugens control in the field. In this study, a laboratory-selected resistant strain and a susceptible strain were used to evaluate the inheritance and fitness costs of sulfoxaflor resistance in N. lugens. RESULTS: The resistant strain (SFX-SEL) showed 123.63-fold resistance compared with the susceptible strain (SS). Progenies of reciprocal crosses (F1 RS and F1 SR) showed similar concentration-mortality responses (LC50 ) to sulfoxaflor and also exhibited a similar degree of dominance; -0.16 for F1 RS and -0.26 for F1 SR. Significant differences between the observed and expected mortalities of F2 individuals suggested that sulfoxaflor resistance is associated with multiple genes. The resistant strain had a relative fitness of 0.75 with substantially decreased female adult period, oviposition days, total fecundity, egg hatchability and female adult survival rate, and prolonged pre-adult period and total pre-oviposition period. CONCLUSION: Sulfoxaflor resistance in N. lugens was inherited as autosomal, incompletely recessive and multigene. The development of resistance may have a significant fitness cost for the resistant population. Current research provides valuable information for researchers to establish management strategies to delay the development of sulfoxaflor resistance and control N. lugens sustainably in the field. © 2019 Society of Chemical Industry.
Assuntos
Hemípteros/genética , Resistência a Inseticidas/genética , Inseticidas/farmacologia , Piridinas/farmacologia , Compostos de Enxofre/farmacologia , Animais , Feminino , Aptidão Genética/efeitos dos fármacos , Hemípteros/efeitos dos fármacos , Hemípteros/crescimento & desenvolvimento , Hereditariedade/efeitos dos fármacos , Masculino , Ninfa/efeitos dos fármacos , Ninfa/genética , Ninfa/crescimento & desenvolvimentoRESUMO
The degree of social reproduction varies considerably between industrialized countries, raising the question of which institutional regulations promote or restrict this process. Education is considered the main mediator of social reproduction. Because school tracking - the sorting of children according to ability and interest at different ages - is known to affect educational attainment and the degree of tracking varies strongly across countries, it may thus account for differences in social reproduction. However, empirical studies are scarce, and the total impact of tracking on social reproduction remains ambiguous. Using the European Social Survey (ESS) 2012 and 2014 from 24 countries, we demonstrate that school tracking is strongly associated with higher degrees of social reproduction. Decomposing the process of social reproduction into educational inheritance, educational returns and direct effects of social origin, we find that although all channels contribute to social reproduction, the impact of tracking seems to be exerted through educational inheritance and to a similar degree through direct effects of social origin, whereas educational returns do not seem to be affected. Even net of educational attainment, social origin thus has a stronger effect on social status in tracked systems. We ascribe this effect to differences in qualitative choices within educational tracks, such as fields of study.
Assuntos
Escolaridade , Pais , Classe Social , Estudantes , Adolescente , Adulto , Cognição , Europa (Continente) , Feminino , Hereditariedade , Humanos , Masculino , Meio Social , Fatores Socioeconômicos , Inquéritos e Questionários , Adulto JovemRESUMO
AIM: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disease in humans and is caused by mutations in the PKD1 or PKD2 gene. ADPKD is heterogeneous with regard to locus and allele heterogeneity and phenotypic variability. METHODS: Using targeted capture associated with next generation sequencing (NGS), we performed a mutational analysis of Han Chinese patients with ADPKD from 62 unrelated families. Multivariate Cox proportional hazard modelling of their different clinical characteristics and mutation classes was performed. RESULTS: The detection rate for a PKD1 and PKD2 mutation in the Chinese ADPKD patients was 95.2% (59/62). We identified pathogenic mutations in 64.4% (38/59) of patients, including 32PKD1 mutations (15 nonsense mutations, 15 frameshift mutation, one splice mutation, and one large deletion) and six PKD2 mutations (three nonsense mutations and three frameshift mutations). Of the pathogenic variants we identified, 50% (19/38) were novel variants and 50% (19/38) were known variants. Patients with PKD2 mutations had milder and indistinguishable phenotypes. Significant phenotypic differences were observed among the various types of PKD1 mutations. CONCLUSION: Our results show that targeted capture associated with next-generation sequencing is an effective strategy for genetically testing ADPKD patients. This mutation analysis of ADPKD in Han Chinese extends our understanding of the genetic diversity of different ethnic groups, enriches the mutation database, and contributes to the genetic counselling of ADPKD patients.
Assuntos
Povo Asiático/genética , Mutação , Rim Policístico Autossômico Dominante/genética , Canais de Cátion TRPP/genética , Adulto , China/epidemiologia , Análise Mutacional de DNA/métodos , Progressão da Doença , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Hereditariedade , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Falência Renal Crônica/etnologia , Falência Renal Crônica/genética , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase Multiplex , Linhagem , Fenótipo , Rim Policístico Autossômico Dominante/diagnóstico , Rim Policístico Autossômico Dominante/etnologia , Prognóstico , Medição de Risco , Fatores de Risco , Fatores de TempoRESUMO
Prior to August Weismann's 1889 germ-plasm theory, social reformers believed that humans could inherit the effects of a salubrious environment and, by passing environmentally-induced modifications to their offspring, achieve continuous progress. Weismann's theory disrupted this logic and caused many to fear that they had little control over human development. As numerous historians have observed, this contributed to the birth of the eugenics movement. However, through an examination of the work of social scientists Lester Frank Ward, Richard T. Ely, Amos Griswold Warner, James Mark Baldwin, Simon Nelson Patten, Alfred Kroeber, Walter Robinson Smith, and Luther Lee Bernard, I demonstrate that Weismann's ideas also prompted scholars to create of theories of human progress in which the social environment had a central role and biological heredity had a diminished one. Furthermore, in creating a new theory of social progress based on a concept called "social heredity," the thinkers surveyed in this article separated biological and social thought and asserted the independence of the American social sciences. I argue that this represents an important moment in the maturation of the human sciences, and I suggest that the germ-plasm theory of heredity deserves a larger place in histories of the development of the American social scientific disciplines.
Assuntos
Hereditariedade , Classe Social , Ciências Sociais/história , História do Século XIX , História do Século XX , Estados UnidosAssuntos
Biomarcadores Tumorais/genética , Neoplasias Colorretais Hereditárias sem Polipose/diagnóstico , Neoplasias Colorretais Hereditárias sem Polipose/genética , Testes Genéticos/métodos , Tomada de Decisão Clínica , Neoplasias Colorretais Hereditárias sem Polipose/economia , Neoplasias Colorretais Hereditárias sem Polipose/patologia , Predisposição Genética para Doença , Testes Genéticos/economia , Custos de Cuidados de Saúde , Hereditariedade , Humanos , Seleção de Pacientes , Linhagem , Valor Preditivo dos Testes , Prognóstico , Medição de Risco , Fatores de RiscoRESUMO
BACKGROUND: The cotton bollworm Helicoverpa armigera is a worldwide insect pest with the ability to develop resistance to many insecticides. Indoxacarb, a sodium channel blocker, is an important insecticide that is used to control H. armigera. Cross-resistance, metabolic mechanisms and life history traits were established for an indoxacarb-selected (IND-SEL) population of H. armigera. RESULTS: After 11 generations of selection, the susceptibility to indoxacarb was decreased by 4.43-fold and the estimated realized heritability (h2 ) was only 0.072. Interestingly, the IND-SEL population was more susceptible to methoxyfenozide and abamectin than the susceptible population. The activities of cytochrome P450 monooxygenase (P450) and carboxyl esterase (CarE) were significantly increased in IND-SEL H. armigera. Thus, susceptibility to indoxacarb was increased by piperonyl butoxide and S,S,S-tributyl phosphorothioate, showing synergistic ratios of 2.54- and 1.82-fold, respectively. Moreover, the IND-SEL population had a reduced relative fitness (0.67), with a lower growth rate and fecundity than the susceptible population. CONCLUSIONS: Evidence from this study suggests that decreased susceptibility to indoxacarb may be associated with fitness costs in H. armigera and enhanced activities of P450 and CarE may be important detoxification mechanisms in the development of indoxacarb resistance. Methoxyfenozide and abamectin can be rotationally used to manage indoxacarb resistance. © 2018 Society of Chemical Industry.
Assuntos
Resistência a Inseticidas/genética , Inseticidas/farmacologia , Larva/genética , Mariposas/genética , Oxazinas/farmacologia , Seleção Genética , Animais , Aptidão Genética , Hereditariedade , Larva/crescimento & desenvolvimento , Larva/fisiologia , Características de História de Vida , Mariposas/crescimento & desenvolvimento , Mariposas/fisiologiaRESUMO
We present allele frequencies involving 39 pharmacogenetic biomarkers studied in Brazil, and their distribution on self-reported race/color categories that: (1) involve a mix of perceptions about ancestry, morphological traits, and cultural/identity issues, being social constructs pervasively used in Brazilian society and medical studies; (2) are associated with disparities in access to health services, as well as in their representation in genetic studies, and (3), as we report here, explain a larger portion of the variance of pharmaco-allele frequencies than geography. We integrated a systematic review of studies on healthy volunteers (years 1968-2017) and the analysis of allele frequencies on three population-based cohorts from northeast, southeast, and south, the most populated regions of Brazil. Cross-validation of results from these both approaches suggest that, despite methodological heterogeneity of the 120 studies conducted on 51,747 healthy volunteers, allele frequencies estimates from systematic review are reliable. We report differences in allele frequencies between color categories that persist despite the homogenizing effect of >500 years of admixture. Among clinically relevant variants: CYP2C9*2 (null), CYP3A5*3 (defective), SLCO1B1-rs4149056(C), and VKORC1-rs9923231(A) are more frequent in Whites than in Blacks. Brazilian Native Americans show lower frequencies of CYP2C9*2, CYP2C19*17 (increased activity), and higher of SLCO1B1-rs4149056(C) than other Brazilian populations. We present the most current and informative database of pharmaco-allele frequencies in Brazilian healthy volunteers.
Assuntos
Bases de Dados Genéticas , Frequência do Gene , Farmacogenética/métodos , Variantes Farmacogenômicos , Polimorfismo de Nucleotídeo Único , Brasil , Haplótipos , Disparidades nos Níveis de Saúde , Disparidades em Assistência à Saúde/etnologia , Hereditariedade , Humanos , Linhagem , Fenótipo , Grupos Raciais/genéticaAssuntos
Aconselhamento Genético , Conhecimentos, Atitudes e Prática em Saúde , Doença de Huntington/diagnóstico , Doença de Huntington/genética , Diagnóstico Pré-Implantação , Adulto , Feminino , Hereditariedade , Humanos , Doença de Huntington/psicologia , Masculino , Diagnóstico Pré-Implantação/economia , Medicina Reprodutiva/economia , Adulto JovemAssuntos
Terapia Genética/métodos , Distrofias Retinianas/terapia , cis-trans-Isomerases/genética , Dependovirus/genética , Predisposição Genética para Doença , Terapia Genética/efeitos adversos , Terapia Genética/economia , Vetores Genéticos , Hereditariedade , Humanos , Mutação , Distrofias Retinianas/diagnóstico , Distrofias Retinianas/genética , Distrofias Retinianas/metabolismo , Resultado do Tratamento , cis-trans-Isomerases/biossínteseAssuntos
Equidade em Saúde , Hereditariedade , Seguro Saúde , Saúde Pública , Testamentos , Humanos , Estados UnidosRESUMO
Evolving knowledge of sex-specific presentations, improved recognition of conventional and novel risk factors, and expanded understanding of the sex-specific pathophysiology of ischemic heart disease have resulted in improved clinical outcomes in women. Yet, ischemic heart disease continues to be the leading cause of morbidity and mortality in women in the United States. The important publication by the Institute of Medicine titled "Women's Health Research-Progress, Pitfalls, and Promise," highlights the persistent disparities in cardiovascular disease burden among subgroups of women, particularly women who are socially disadvantaged because of race, ethnicity, income level, and educational attainment. These important health disparities reflect underrepresentation of women in research, with the resultant unfavorable impact on diagnosis, prevention, and treatment strategies in women at risk for cardiovascular disease. Causes of disparities are multifactorial and related to differences in risk factor prevalence, access to care, use of evidence-based guidelines, and social and environmental factors. Lack of awareness in both the public and medical community, as well as existing knowledge gap regarding sex-specific differences in presentation, risk factors, pathophysiology, and response to treatment for ischemic heart disease, further contribute to outcome disparities. There is a critical need for implementation of sex- and gender-specific strategies to improve cardiovascular outcomes. This review is tailored to meet the needs of a busy clinician and summarizes the contemporary trends, characterizes current sex-specific outcome disparities, delineates challenges, and proposes transformative solutions for improvement of the full spectrum of ischemic heart disease clinical care and research in women.