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1.
J Health Soc Behav ; : 221465241235143, 2024 Mar 05.
Artigo em Inglês | MEDLINE | ID: mdl-38444117

RESUMO

Racial inequalities in breastfeeding have been a U.S. national concern, prompting health science research and public discourse. Social science research reveals structural causes, including racism in labor conditions, maternity care practices, and lactation support. Yet research shows that popular and health science discourses disproportionately focus on individual and community factors, blaming Black women and communities for unequal breastfeeding rates. This study examines how scientific reports are communicated to the public through a critical analysis of 104 U.S. news articles reporting research on racial disparities in breastfeeding. Findings show that articles acknowledge unequal treatment within maternity care but justify it by presenting Black patients as overburdening the maternity care systems they use due to low socioeconomic status, welfare dependency, poor family support, and poor health. Through these representations, articles co-construct racialized motherhood and maternity care systems in ways that hide manifestations of obstetric racism and combat social support for systemic change.

2.
J Nurs Scholarsh ; 56(1): 18-30, 2024 01.
Artigo em Inglês | MEDLINE | ID: mdl-38228567

RESUMO

PURPOSE: Transgender and nonbinary (TGNB) patients experience many barriers when seeking quality healthcare services, including ineffective communication and negative relationships with their providers as well as a lack of provider competence (including knowledge, training, and experience) and humility (engagement in the process of self-reflection and self-critique) in treating TGNB individuals. The purpose of this qualitative study was to identify factors associated with cultural competence and humility that facilitate and impede effective relationships between TGNB young adults and their healthcare providers. METHODS: Data came from individual interviews with 60 young adults aged 18 to 24 from Florida who self-identified as transgender or nonbinary. We analyzed the data using inductive thematic approaches, and a feminist perspective, to identify themes associated with patient-provider relationships. CONCLUSIONS: We identified 4 themes related to patient-provider relationships: (1) Participants indicated effective patient-provider communication and relationships are facilitated by providers requesting and utilizing TGNB patients' correct names and personal pronouns. (2) Participant narratives conveyed their preferences that providers "follow their lead" in terms of how they described their own anatomy, reinforcing the utility of cultural humility as an approach for interactions with TGNB patients (3) Participants discussed the detrimental effects of TGNB patients having to educate their own providers about their identities and needs, suggesting clinicians' competence regarding gender diversity is paramount to fostering and maintaining patient comfort. (4) Finally, participants' responses indicated concerns regarding the confidentiality and privacy of the information they provided to their providers, suggesting a lack of trust detrimental to the process of building rapport between patients and their providers. CLINICAL RELEVANCE: Our findings indicate balancing the use of cultural humility and cultural competence during clinical encounters with TGNB young adults can enhance patients' experiences seeking healthcare. Nursing education is often devoid of focus on caring for transgender and nonbinary persons. Additional provider training and education on approaching clinical encounters with TGNB patients with cultural humility and competence should improve patient-provider communication and relationships, leading to a higher quality of patient care.


Assuntos
Pessoas Transgênero , Humanos , Adulto Jovem , Competência Cultural , Identidade de Gênero , Relações Profissional-Paciente , Florida
4.
J Health Polit Policy Law ; 48(4): 545-568, 2023 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-36693183

RESUMO

During the early months of the COVID-19 pandemic, 12 states banned or restricted abortion access under elective-procedure restrictions. The rationale was preserving hospital capacity and personal protective equipment (PPE); however, abortions commonly take place in clinics and use less PPE than childbirth. This paper investigates the discursive construction of abortions, the people who get them, and the fetuses in this legislation. The authors analyzed 13 antiabortion documents using an iterative process of thematic coding and memo writing. Twenty-three percent of the legislation listed abortion as banned, whereas the remaining laws implied abortion within the terms "elective" or "nonessential." Legislation used common antiabortion tactics, such as the trivialization of abortion, risk discourses, and constructions of motherhood and fetal personhood. Discourses delegitimized abortion providers and used quasi-medical justifications for banning abortion. Finally, legislation constructed abortion clinics as sites of contagion and waste and consequently as risks to public health. The results highlight the vulnerability of abortion and the connection between abortion policy and other conservative policies, and they gesture toward a strategic attempt to ban abortion federally. These findings have several implications for a post-Roe United States and for stakeholders wishing to increase abortion access.


Assuntos
Aborto Induzido , COVID-19 , Gravidez , Feminino , Estados Unidos/epidemiologia , Humanos , Saúde Pública , Pandemias , COVID-19/epidemiologia
5.
Am Nat ; 200(5): E189-E206, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-36260851

RESUMO

AbstractClimate change-driven phenological shifts alter the temporal distributions of natural populations and communities, but we have little understanding of how these shifts affect natural populations. Using agent-based models, we show that the interaction of within-population synchrony (individual variation in timing) and timing of interspecific interactions shapes ecological and evolutionary dynamics of populations within a seasonal cycle. Low-synchrony populations had lower survival and biomass but relatively stronger individuals. These effects were surprisingly robust and did not require size-based competitive asymmetries. However, reducing population synchrony could either negatively or positively affect population demography depending on whether the phenology of the focal species was advanced or delayed relative to its competitor. Furthermore, selection for earlier hatching increased when the interspecific competitor arrived earlier and when population synchrony was high. These results emphasize the importance of variation in the phenology of individuals within populations to better understand species interactions and predict ecological and evolutionary outcomes of phenological shifts.


Assuntos
Evolução Biológica , Mudança Climática , Humanos , Estações do Ano , Biomassa
6.
Eur J Hum Genet ; 30(10): 1178-1181, 2022 10.
Artigo em Inglês | MEDLINE | ID: mdl-35879406

RESUMO

Oculo-auriculo-vertebral syndrome (OAVS) is a clinically heterogeneous disorder, with both genetic and environmental contributors. Multiple genes have been associated with OAVS and common molecular pathways, such as retinoic acid and the PAX-SIX-EYA-DACH (PSED) network, are being implicated in the disease pathophysiology. Biallelic homozygous nonsense or hypomorphic missense mutations in PAX1 cause otofaciocervical syndrome type 2 (OTFCS2), a similar but more severe multi-system disorder that can be accompanied by severe combined immunodeficiency due to thymic aplasia. Here we have identified a multi-generational family with mild features of OAVS segregating a heterozygous frameshift in PAX1. The four base duplication is expected to result in nonsense-mediated decay, and therefore cause a null allele. While there was full penetrance of the variant, expressivity of facial and ear features were variable. Our findings indicate there can be monoallelic and biallelic disorders associated with PAX1, and further implicate the PSED network in OAVS.


Assuntos
Síndrome de Goldenhar , Fatores de Transcrição Box Pareados , Imunodeficiência Combinada Severa , Síndrome de Goldenhar/genética , Homozigoto , Humanos , Mutação de Sentido Incorreto , Fatores de Transcrição Box Pareados/genética , Tretinoína
7.
Artigo em Inglês | MEDLINE | ID: mdl-32099586

RESUMO

BACKGROUND: Genetic counselling (GC) is an integral component in the care of individuals at risk for hereditary cancer predisposition syndromes (CPS). In many jurisdictions, access to timely counselling and testing is limited by financial constraints, by the shortage of genetics professionals and by labor-intensive traditional models of individual pre and post-test counselling. There is a need for further research regarding alternate methods of GC service delivery and implementation. This quality improvement project was initiated to determine if pretest group GC followed immediately by a 'mini' individual session, would be acceptable to patients at risk for hereditary breast and colon cancer. METHODS: Patients on waitlists for GC at the Provincial Medical Genetics Program in St. John's, NL, Canada (n = 112), were contacted by telephone and offered the option of a group counselling session (GGC), followed by a "mini" individual session, versus (TGC) traditional private appointments. GGC sessions consisted of a cancer genetics information session given to groups of 6-20 followed by brief 20 min "mini" individual sessions with the patient and genetic specialist. TGC individual appointments provided the same cancer genetics information and counselling to one patient at a time in the classic model. All but 2 participants selected group+mini session. A de-identified confidential 12-item, Likert scale survey was distributed at the conclusion of mini-sessions to measure perceptions of GGC and satisfaction with this counselling model. RESULTS: Sixty participants completed questionnaires. The majority of participants strongly agreed that they were comfortable with the group session (58/60); the explanation of cancer genetics was clear (54/59); they understood their cancer risks (50/60); and they would recommend such a session to others (56/59). 38/53 respondents disagreed or strongly disagreed that they would prefer to wait for a traditional private appointment. All 5 participating genetic counselors reported a preference for this model. At the end of the pilot project, the waitlist for counselling/testing was reduced by 12 months. CONCLUSIONS: Group pre-test genetic counselling combined with immediate "mini" individual session is strongly supported by patients and reduces wait times. Additional formal investigation of this approach in larger numbers of patients is warranted.

8.
Ecology ; 100(11): e02826, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31325374

RESUMO

Climate change-induced phenological shifts are ubiquitous and have the potential to disrupt natural communities by changing the timing of species interactions. Shifts in first and/or mean phenological date are well documented, but recent studies indicate that shifts in synchrony (individual variation around these metrics) can be just as common. However, we know little about how both types of phenological shifts interact to affect species interactions and communities. Here, we experimentally manipulated the hatching phenologies of two competing species of larval amphibians to address this conceptual gap. Specifically, we manipulated the relative mean hatching time (early, same, or late relative to competitor) and population synchrony (high, medium, or low levels of variation around the mean) in a full 3 × 3 factorial design to measure independent and interactive effects of phenological mean and population phenological synchrony on competitive outcomes. Our results indicate that phenological synchrony within a population strongly influences intraspecific competition by changing the density of individuals and relative strength of early- vs. late-arriving individuals. Individuals from high-synchrony populations competed symmetrically, whereas individuals from low-synchrony populations competed asymmetrically. At the community scale, shifts in population phenological synchrony interact with shifts in phenological mean to affect key demographic rates (survival, biomass export, per capita mass, and emergence timing) strongly. Furthermore, changes in mean timing of species interactions altered phenological synchrony within a population at the next life stage, and phenological synchrony at one life stage altered the mean timing of the next life stage. Thus, shifts in phenological synchrony within populations cannot only alter species interactions, but species interactions in turn can also drive shifts in phenology.


Assuntos
Mudança Climática , Animais , Biomassa , Demografia , Larva , Estações do Ano
9.
J Pediatr ; 211: 172-178, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31079853

RESUMO

OBJECTIVE: To compare social connectedness factors that facilitate use of primary, dental, and mental healthcare services among transgender and gender nonconforming (TGNC) and cisgender adolescents. METHODS: Data from the cross-sectional 2016 Minnesota Student Survey were used to examine protective social connectedness factors associated with use of different healthcare services among matched samples of 1916 TGNC and 1916 cisgender youth. Stratified, logistic regression analyses were used to examine background characteristics and social connectedness factors (parent connectedness, connections to other nonparental adults, teacher-student relationships, and friend connections) associated with use of each healthcare service within the last year. RESULTS: For TGNC youth, but not for cisgender youth, higher levels of parent connectedness were associated with receipt of primary (OR, 2.26; 95% CI, 1.40-3.66) and dental (OR, 3.01; 95% CI, 1.78-5.08) care services, and lower levels of connectedness to nonparental adults was associated with receipt of mental healthcare (OR, 0.55; 95% CI, 0.33-0.93). Among cisgender youth, no protective factors were significantly associated with receipt of primary care services, higher levels of friend connections were associated with receipt of dental services (OR, 1.85; 95% CI, 1.10-3.09), and lower levels of parent connectedness were associated with receipt of mental healthcare (OR, 0.20; 95% CI, 0.10-0.40). CONCLUSIONS: To promote the health of TGNC youth, clinicians should understand the distinct factors associated with obtaining healthcare among this population such as the need for tailored efforts focused on strengthening connectedness between TGNC youth and their parents to facilitate receipt of needed care.


Assuntos
Serviços de Saúde Bucal/estatística & dados numéricos , Relações Interpessoais , Serviços de Saúde Mental/estatística & dados numéricos , Atenção Primária à Saúde/estatística & dados numéricos , Minorias Sexuais e de Gênero , Adolescente , Feminino , Abastecimento de Alimentos , Amigos , Habitação , Humanos , Masculino , Minnesota/epidemiologia , Relações Pais-Filho , Grupos Raciais , Inquéritos e Questionários
10.
Ecol Lett ; 21(8): 1143-1151, 2018 08.
Artigo em Inglês | MEDLINE | ID: mdl-29927047

RESUMO

Climate change has changed the phenologies of species worldwide, but it remains unclear how these phenological changes will affect species interactions and the structure of natural communities. Using a novel approach to analyse long-term data of 66 amphibian species pairs across eight communities, we demonstrate that phenological shifts can significantly alter the interaction potential of coexisting competitors. Importantly, these changes in interaction potential were mediated by non-uniform, species-specific shifts in entire phenological distributions and consequently could not be captured by metrics traditionally used to quantify phenological shifts. Ultimately, these non-uniform shifts in phenological distributions increased the interaction potential for 25% of species pairs (and did not reduce interaction potential for any species pair), altering temporal community structure and potentially increasing interspecific competition. These results demonstrate the potential of phenological shifts to reshape temporal structure of natural communities, emphasising the importance of considering entire phenological distributions of natural populations.


Assuntos
Anfíbios , Mudança Climática , Animais , Dinâmica Populacional , Estações do Ano , Especificidade da Espécie , Temperatura
11.
J Hum Lact ; 33(1): 173-180, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28135476

RESUMO

BACKGROUND: Peer milk sharing, the noncommercial sharing of human milk from one parent or caretaker directly to another for the purposes of feeding a child, appears to be an increasing infant-feeding practice. Although the U.S. Food and Drug Administration has issued a warning against the practice, little is known about how people who share human milk handle and store milk and whether these practices are consistent with clinical safety protocols. Research aim: This study aimed to learn about the milk-handling practices of expressed human milk by milk-sharing donors and recipient caretakers. In this article, we explore the degree to which donors and recipients adhere to the Academy of Breastfeeding Medicine clinical recommendations for safe handling and storage. METHODS: Online surveys were collected from 321 parents engaged in peer milk sharing. Univariate descriptive statistics were used to describe the safe handling and storage procedures for milk donors and recipients. A two-sample t-test was used to compare safety items common to each group. Multivariate ordinary least squares regression analysis was used to examine sociodemographic correlates of milk safety practices within the sample group. RESULTS: Findings indicate that respondents engaged in peer milk sharing report predominantly positive safety practices. Multivariate analysis did not reveal any relationship between safety practices and sociodemographic characteristics. The number of safe practices did not differ between donors and recipients. CONCLUSION: Parents and caretakers who participate in peer human milk sharing report engaging in practices that should reduce risk of bacterial contamination of expressed peer shared milk. More research on this particular population is recommended.


Assuntos
Aleitamento Materno/métodos , Manipulação de Alimentos/normas , Conhecimentos, Atitudes e Prática em Saúde , Bancos de Leite Humano , Grupo Associado , Adulto , Feminino , Manipulação de Alimentos/métodos , Humanos , Leite Humano , Mães/psicologia , Inquéritos e Questionários
12.
Breastfeed Med ; 10(5): 263-9, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25973632

RESUMO

Peer breastmilk sharing has emerged in recent years as a subject of investigation and occasional controversy. Although researchers know that thousands of milk exchanges are facilitated through milk sharing Web sites every week, there is only limited research into milk sharing practices on the ground. This study examines these practices through a 102-item online survey that asked questions about milk sharing practices, perceptions of milk sharing, and demographic characteristics. Participants were recruited through social media sites specific to breastfeeding and parenting events in Central Florida. The sample consisted of 392 respondents. Data were analyzed using univariate analysis. We found that breastmilk sharing is a complex practice, showing high levels of overlap in which some donors are also recipients, and that cross-nursing sometimes occurs simultaneously with the exchange of expressed milk. Respondents often donated and received milk from people they knew; however, exchanging milk with strangers was also common. Many but not all used the Internet to facilitate milk exchange; participants used well-known milk sharing Web sites as well as their private virtual networks. The study found that most milk exchanges happen in-person as gifts and that selling and shipping breastmilk were rare. We suggest that further research is needed on breastmilk sharing practices to inform breastmilk safety research and policy recommendations.


Assuntos
Aleitamento Materno/psicologia , Internet , Leite Humano/microbiologia , Mães/psicologia , Manejo de Espécimes/normas , Atitude Frente a Saúde , Feminino , Florida/epidemiologia , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Lactente , Recém-Nascido , Leite Humano/química , Mães/educação , Grupo Associado , Formulação de Políticas , Meio Social , Percepção Social , Inquéritos e Questionários
13.
Midwifery ; 30(9): 1021-8, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-24906561

RESUMO

BACKGROUND: previous research has examined emotional labour as an important component of the occupational work of midwives and gynaecological nurses. Fewer studies explore emotion work by women during normal pregnancy and birth, and existing studies emphasise emotion work based on the midwife-woman relationship. This study explores use of emotion work during pregnancy and birth among a sample of women. OBJECTIVE: the study objective is to identify the mechanisms and purposes of emotion work among women during pregnancy and birth. DESIGN: data consist of 18 in-depth interviews with women regarding their pregnancy and birth experiences and seven online pregnancy journals. Data were analysed to identify themes in participant's descriptions of emotion work during pregnancy and birth. FINDINGS: participants described four methods of emotion work that included shifting cognitive focus, exerting control, social support and using technology. Participants used emotion work for the four main purposes of maintaining their own and their babies' health, coping with negative events, managing pain, and achieving their desired birth. Although some emotion work was undertaken in relational context with the midwife or partner, much of the emotion work described took place in solitude. IMPLICATIONS FOR PRACTICE: social support from midwives or partners was a form of emotion work that facilitated positive interpretations of the birth experience.


Assuntos
Emoções , Parto/psicologia , Gravidez/psicologia , Adulto , Inteligência Emocional , Feminino , Humanos , Relações Interpessoais , Pessoa de Meia-Idade , Enfermeiros Obstétricos/psicologia , Apoio Social , Tecnologia , Redação , Adulto Jovem
14.
Soc Sci Res ; 47: 165-77, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-24913952

RESUMO

Scholars have debated whether racial attitudes are socialized early in life and persist throughout one's lifetime or are open to influences from one's environment as an adult. This study introduces another approach that holds that place, as opposed to the timing of socialization, is an important consideration for the socialization of racial attitudes. Using data from the American National Election Study, we consider the effect of region and urban residency on racial attitudes by comparing lifelong residents of these locations to those who migrate into and out of them. Using improved measures of early life socialization and region of residency, we conclude that a place-based model can be used to explain the socialization of racial resentment. For regional migrants, those moving into and out of the non-South maintain levels of racial resentment similar to non-Southern stayers. For urban migrants, the lifelong openness model of socialization was most appropriate. These migrants were more likely to change and adopt the level of racial resentment similar to that of their destination peers. These findings generally persist across time.


Assuntos
Atitude , Dinâmica Populacional , Racismo , Características de Residência , Socialização , Migrantes , Aculturação , Adulto , Emigração e Imigração , Etnicidade , Feminino , Humanos , Masculino , Grupos Raciais , Fatores Socioeconômicos , Estados Unidos , População Urbana
15.
Am J Health Promot ; 28(6): e137-45, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24200247

RESUMO

PURPOSE: Examine whether individual-level childhood obesity is related to residential availability of fast food and healthy food outlets. DESIGN: Retrospective cross-sectional study. SETTING: Perth, Western Australia. SUBJECTS: A total of 1850 children aged 5 to 15 years in 2005-2010 who participated in the Western Australian Health and Wellbeing Surveillance System survey. MEASURES: Geographical Information Systems were used to calculate a range of measures of fast food and healthy food outlet access and availability. For example, distance to nearest and access and density measures within 800 m and 3 km of each child's residence were all tested. ANALYSIS: Multivariate logistic regression analysis, controlling for individual-level sociodemographic factors and lifestyle behaviors. RESULTS: An increasing number of healthy food outlets within 800 m of a child's home was associated with a significantly reduced risk of being overweight/obese in all models tested. After controlling for age, physical activity, time spent sedentary, weekly takeaway consumption, area disadvantage, and count of fast food outlets, each additional healthy food outlet within 800 m was associated with a 20% decrease in the likelihood of a child being overweight or obese (odds ratio: .800, 95% confidence intervals: .686-.933). CONCLUSION: The local food environment around children's homes has an independent effect on child weight status. These findings highlight the importance of the built environment as a potential contributor towards child health, which should be considered when developing community health promotion programs.


Assuntos
Meio Ambiente , Abastecimento de Alimentos , Obesidade Infantil/epidemiologia , Adolescente , Criança , Pré-Escolar , Estudos Transversais , Feminino , Sistemas de Informação Geográfica , Humanos , Entrevistas como Assunto , Masculino , Estudos Retrospectivos , Fatores de Risco , Austrália Ocidental/epidemiologia
16.
Women Health ; 53(4): 419-37, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23751094

RESUMO

Previous research has identified several ways that breastfeeding is constructed in public discourses, each with consequences for breastfeeding attitudes, policies, and practices. Researchers analyzed discursive constructions of breastfeeding in U.S. state laws regarding breastfeeding in public to see if common representations were replicated in law and to identify patterns among states that used similar language. Results indicated that laws varied in the level of protection they offered, with the least protective laws decriminalizing breastfeeding in public and the most protective laws criminalizing interference with breastfeeding. The least protective states were located in the Western and North-Central regions, Republican-leaning, and less urban, whereas the most protective states were located in the New England and North-Central regions, Democrat-leaning, and more urban. Most states that fell on either end of this continuum had breastfeeding rates above the national average. Laws also varied in the level of regulation implied in their language, with the most regulative laws specifying that "a mother" can breastfeed "her baby" only in certain places and under certain conditions (discreetly). The most regulative states were located in the Southern and North-Central regions and had low breastfeeding rates, whereas the least regulative states were Western and had high breastfeeding rates.


Assuntos
Aleitamento Materno , Regulamentação Governamental , Legislação como Assunto , Mães , Feminino , Humanos , Política Pública , População Rural , Governo Estadual , Estados Unidos , População Urbana
17.
Int J Mol Sci ; 14(4): 7286-301, 2013 Apr 02.
Artigo em Inglês | MEDLINE | ID: mdl-23549265

RESUMO

At 25.0 °C the specific rates of solvolysis for allyl and vinyl chloroformates have been determined in a wide mix of pure and aqueous organic mixtures. In all the solvents studied, vinyl chloroformate was found to react significantly faster than allyl chloroformate. Multiple correlation analyses of these rates are completed using the extended (two-term) Grunwald-Winstein equation with incorporation of literature values for solvent nucleophilicity (NT) and solvent ionizing power (YCl). Both substrates were found to solvolyze by similar dual bimolecular carbonyl-addition and unimolecular ionization channels, each heavily dependent upon the solvents nucleophilicity and ionizing ability.


Assuntos
Ésteres/química , Formiatos/química , Solventes/química , Compostos de Vinila/química , Cátions , Imageamento Tridimensional , Cinética , Temperatura
18.
J Am Coll Cardiol ; 60(13): 1173-81, 2012 Sep 25.
Artigo em Inglês | MEDLINE | ID: mdl-22818067

RESUMO

OBJECTIVES: The aim of this study was to test the hypothesis that 2 common polymorphisms in the chromosome 4q25 region that have been associated with atrial fibrillation (AF) contribute to the variable penetrance of familial AF. BACKGROUND: Although mutations in ion channels, gap junction proteins, and signaling molecules have been described for Mendelian forms of AF, penetrance is highly variable. Recent studies have consistently identified 2 common single-nucleotide polymorphisms in the chromosome 4q25 region as independent AF susceptibility alleles. METHODS: Eleven families in which AF was present in ≥2 members who also shared a candidate gene mutation were studied. These mutations were identified in all subjects with familial lone AF (n = 33) as well as apparently unaffected family members (age >50 years with no AF; n = 17). RESULTS: Mutations were identified in SCN5A (n = 6), NPPA (n = 2), KCNQ1 (n = 1), KCNA5 (n = 1), and NKX2.5 (n = 1). In genetic association analyses, unstratified and stratified according to age of onset of AF and unaffected age >50 years, there was a highly statistically significant association between the presence of both common (rs2200733 and rs10033464) and rare variants and AF (unstratified p = 1 × 10(-8), stratified [age of onset <50 years and unaffected age >50 years] p = 7.6 × 10(-5)) (unstratified p < 0.0001, stratified [age of onset <50 years and unaffected age >50 years] p < 0.0001). Genetic association analyses showed that the presence of common 4q25 risk alleles predicted whether carriers of rare mutations developed AF (p = 2.2 × 10(-4)). CONCLUSIONS: Common AF-associated 4q25 polymorphisms modify the clinical expression of latent cardiac ion channel and signaling molecule gene mutations associated with familial AF. These findings support the idea that the genetic architecture of AF is complex and includes both rare and common genetic variants.


Assuntos
Fibrilação Atrial/genética , Cromossomos Humanos Par 4/genética , Predisposição Genética para Doença , Canais Iônicos/genética , Adulto , Idoso , Fator Natriurético Atrial/genética , Estudos de Coortes , Genótipo , Proteína Homeobox Nkx-2.5 , Proteínas de Homeodomínio/genética , Humanos , Canal de Potássio KCNQ1/genética , Canal de Potássio Kv1.5/genética , Pessoa de Meia-Idade , Mutação/genética , Canal de Sódio Disparado por Voltagem NAV1.5/genética , Linhagem , Polimorfismo de Nucleotídeo Único/genética , Estudos Prospectivos , Sistema de Registros , Fatores de Transcrição/genética
19.
J Am Coll Cardiol ; 60(6): 539-45, 2012 Aug 07.
Artigo em Inglês | MEDLINE | ID: mdl-22726630

RESUMO

OBJECTIVES: This study tested the hypothesis that response to antiarrhythmic drugs (AADs) is modulated by 3 common loci associated with atrial fibrillation (AF). BACKGROUND: Recent genome-wide association studies have identified 3 loci, on chromosomes 4q25 (near PITX2), 16q22 (in ZFHX3), and 1q21 (in KCNN3), that associate with either typical or lone AF. These findings indicate that variable mechanisms contribute to AF susceptibility, and suggest that response to therapy may be genotype dependent. METHODS: We studied 478 and 198 Caucasian patients in the discovery cohort and validation cohort, respectively, who were prospectively enrolled in the Vanderbilt AF registry. Response was defined prospectively as successful rhythm control if the patient remained on the same AAD therapy for a minimum of 6 months with ≥75% reduction in symptomatic AF burden. We also evaluated AF recurrence by 12-lead electrocardiogram (ECG) at 3, 6, and 12 months. Symptomatic patients were also given a 24- to 48-h Holter monitor or 30-day event recorder when AF recurrence was not captured by 12-lead ECG. RESULTS: In the discovery cohort, 399 (83%) patients were successfully rhythm controlled. Multiple clinical variables (including age, hypertension, lone AF) failed to significantly predict response to AADs; however, single nucleotide polymorphism (SNP) rs10033464 at 4q25 was an independent predictor of successful rhythm control in patients with typical AF carrying the ancestral allele (wild type) versus carriers of variant allele (odds ratio [OR]: 4.7, 95% confidence interval [CI]: 1.83 to 12, p = 0.0013. In the validation cohort, 143 (72%) patients met the criteria for successful rhythm control, and rs10033464 was again an independent predictor of successful rhythm control, OR: 1.5, 95% CI: 1.02 to 3.06, p = 0.04. This SNP (rs10033464) was an independent predictor of AF recurrence in the discovery (39% AF recurrence) and validation (38% AF recurrence) cohorts; OR: 3.27, 95% CI: 1.7 to 6, p < 0.001 and OR: 4.3, 95% CI: 1.98 to 9.4, p < 0.001, respectively. CONCLUSIONS: These results suggest that a common SNP on chromosome 4q25 associated with AF modulates response to AAD therapy and points to a potential role for stratification of therapeutic approaches by genotype.


Assuntos
Antiarrítmicos/uso terapêutico , Fibrilação Atrial/tratamento farmacológico , Fibrilação Atrial/genética , Cromossomos Humanos Par 4/genética , Polimorfismo de Nucleotídeo Único , Idoso , Estudos de Coortes , Eletrocardiografia , Feminino , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Recidiva , Sistema de Registros , População Branca
20.
Circ Cardiovasc Genet ; 5(1): 91-9, 2012 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-22100668

RESUMO

BACKGROUND: Drug-induced long-QT syndrome (diLQTS) is an adverse drug effect that has an important impact on drug use, development, and regulation. We tested the hypothesis that common variants in key genes controlling cardiac electric properties modify the risk of diLQTS. METHODS AND RESULTS: In a case-control setting, we included 176 patients of European descent from North America and Europe with diLQTS, defined as documented torsades de pointes during treatment with a QT-prolonging drug. Control samples were obtained from 207 patients of European ancestry who displayed <50 ms QT lengthening during initiation of therapy with a QT-prolonging drug and 837 control subjects from the population-based KORA study. Subjects were successfully genotyped at 1424 single-nucleotide polymorphisms (SNPs) in 18 candidate genes including 1386 SNPs tagging common haplotype blocks and 38 nonsynonymous ion channel gene SNPs. For validation, we used a set of cases (n=57) and population-based control subjects of European descent. The SNP KCNE1 D85N (rs1805128), known to modulate an important potassium current in the heart, predicted diLQTS with an odds ratio of 9.0 (95% confidence interval, 3.5-22.9). The variant allele was present in 8.6% of cases, 2.9% of drug-exposed control subjects, and 1.8% of population control subjects. In the validation cohort, the variant allele was present in 3.5% of cases and in 1.4% of control subjects. CONCLUSIONS: This high-density candidate SNP approach identified a key potassium channel susceptibility allele that may be associated with the rare adverse drug reaction torsades de pointes.


Assuntos
Antiarrítmicos/efeitos adversos , Síndrome do QT Longo/tratamento farmacológico , Polimorfismo de Nucleotídeo Único , Canais de Potássio de Abertura Dependente da Tensão da Membrana/genética , Torsades de Pointes/induzido quimicamente , Torsades de Pointes/genética , Idoso , Idoso de 80 Anos ou mais , Alelos , Substituição de Aminoácidos , Estudos de Casos e Controles , Estudos de Coortes , Feminino , Genótipo , Haplótipos , Humanos , Síndrome do QT Longo/genética , Masculino , Pessoa de Meia-Idade , Razão de Chances , Potássio/sangue
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