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BACKGROUND: It is essential to characterize communication patterns for better health outcomes for family caregivers and persons living with dementia. OBJECTIVE: This study aimed to examine the relationships between communication patterns and the characteristics of dyads of family caregivers and persons living with dementia. METHODS: A secondary analysis was conducted using 75 video-recorded home care observations from 19 dyads. Participant characteristics and caregiver burden, depression, and sense of competence were collected from the parent study. The video-recorded dyadic communication patterns were assessed using a coding scheme developed based on Communication Accommodation Theory and Classical Test Theory. The relative frequency of the communication patterns was compared between groups. RESULTS: Overall, 8311 caregiver and 8024 care recipient communication behaviors were observed. Caregiver communication patterns were categorized as facilitative, disabling, and neutral. Care recipient communication patterns were categorized as engaging, challenging, and neutral. Caregiver gender, care recipient gender, care recipient education level, dementia diagnosis length, types of dementia, dyadic gender difference, burden, depression, and competence of caregiver, and types of communication were significantly associated with caregiver communication. Dementia diagnosis length, caregiver competence, dyadic gender difference, and types of communication were significantly associated with care recipient communication. CONCLUSIONS: The findings demonstrated different communication patterns depending on individual and dyad characteristics and evidence for dyadic communication support to promote meaningful interaction for persons living with dementia. Further analysis is needed to identify mediating factors and causal relationships.
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Demencia , Servicios de Atención de Salud a Domicilio , Humanos , Cuidadores , Comunicación , Carga del CuidadorRESUMEN
Cleft lip with or without cleft palate (CL/P) is a common birth defect with a complex, heterogeneous etiology. It is well established that common and rare sequence variants contribute to the formation of CL/P, but the contribution of copy-number variants (CNVs) to cleft formation remains relatively understudied. To fill this knowledge gap, we conducted a large-scale comparative analysis of genome-wide CNV profiles of 869 individuals from the Philippines and 233 individuals of European ancestry with CL/P with three primary goals: first, to evaluate whether differences in CNV number, amount of genomic content, or amount of coding genomic content existed within clefting subtypes; second, to assess whether CNVs in our cohort overlapped with known Mendelian clefting loci; and third, to identify unestablished Mendelian clefting genes. Significant differences in CNVs across cleft types or in individuals with non-syndromic versus syndromic clefts were not observed; however, several CNVs in our cohort overlapped with known syndromic and non-syndromic Mendelian clefting loci. Moreover, employing a filtering strategy relying on population genetics data that rare variants are on the whole more deleterious than common variants, we identify several CNV-associated gene losses likely driving non-syndromic clefting phenotypes. By prioritizing genes deleted at a rare frequency across multiple individuals with clefts yet enriched in our cohort of individuals with clefts compared to control subjects, we identify COBLL1, RIC1, and ARHGEF38 as clefting genes. CRISPR-Cas9 mutagenesis of these genes in Xenopus laevis and Danio rerio yielded craniofacial dysmorphologies, including clefts analogous to those seen in human clefting disorders.
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Labio Leporino , Fisura del Paladar , Variaciones en el Número de Copia de ADN , Humanos , Labio Leporino/genética , Fisura del Paladar/genética , Estudio de Asociación del Genoma Completo , Factores de Intercambio de Guanina Nucleótido/genética , Fenotipo , Factores de Transcripción/genéticaRESUMEN
OBJECTIVES: Understanding family dyadic communication in dementia is essential to promote the well-being of family caregivers and persons living with dementia. The Dyadic Communication Observational coding scheme in DEmentia care (DCODE) was developed and tested to assess family dyadic communication in dementia. METHODS: The DCODE was developed from a review of literature, expert review, and pretesting. A secondary analysis of the 75 in-home care video observations from 19 family caregiver-care recipient dyads was conducted to test psychometric properties. RESULTS: The DCODE consists of 43 caregiver items and 41 care recipient items. We observed internal consistency, intra-rater reliability, and inter-rater reliability as adequate. Content validity and convergent validity were moderate. Predictive validity was moderate in predicting caregiver burden. The overall psychometric properties demonstrated a moderate quality of the DCODE. CONCLUSIONS: Findings provided the preliminary psychometric evidence of the DCODE as a promising instrument to assess family dyadic communication in dementia. Future testing for concurrent, divergent, and structural validity of the DCODE is needed.
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BACKGROUND: People with multiple sclerosis (MS) frequently report implementing dietary strategies as part of their personal wellness programs; however, little is known about the perceived themes of healthy behavior change in people with MS. METHODS: Semistructured one-on-one interviews were conducted with 20 women with MS enrolled in 2 different restrictive dietary intervention studies and their 18 self-identified support persons consisting of partners and adult children. Interviews were transcribed, coded, categorized, and then grouped into summative themes. The frequency of issues being mentioned as facilitators of or barriers to diet adherence was evaluated to identify possible differences in perceived experiences between women with MS and their support persons during the studies. RESULTS: Five qualitative themes were identified: (1) personal motivation, (2) diet components, (3) time, (4) support, and (5) resource access. Major facilitators of dietary adherence were positive support from support persons and study staff, access to resources, symptom improvement, and personal motivation. Major barriers included the novelty of the study diet, lack of cooking skills, no change in or worsening of symptoms, lack of diet knowledge, and food preferences and temptations. Symptom severity was more frequently reported as a barrier to study diet adherence among participants with secondary progressive MS. CONCLUSIONS: Methods to enhance personal motivation and ensure positive support from support persons and study staff may improve study diet adherence. Due to the unique challenges faced by people with MS, future studies should tailor interventions to their unique MS cohort to increase diet adherence.
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BACKGROUND: The novel coronavirus disease 2019 (COVID-19) pandemic created significant disruption in higher education, especially in health science colleges where in-person and hands-on patient-facing learning environments are essential. Student monitoring and follow-up was an essential aspect of in-person learning for the fall 2020 semester. METHOD: Senior leaders and faculty in a college of nursing developed and implemented an innovative college-based COVID-19 management system to ensure real-time response to prolonged pandemic-related student absences. RESULTS: Decisions made from this management system allowed leaders within the college to implement programmatic changes to ensure student and faculty well-being. Furthermore, the COVID-19 management system allowed for close student follow-up through phone calls with a faculty member to ensure student well-being. CONCLUSION: Monitoring helped ensure appropriate physical and mental health services were accessible to students undergoing quarantine or self-isolation while also fostering positive student satisfaction throughout their prolonged absences. [J Nurs Educ. 2022;61(4):217-220.].
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COVID-19 , Estudiantes de Enfermería , COVID-19/epidemiología , Humanos , Aprendizaje , Pandemias , UniversidadesRESUMEN
There are several ethnolinguistic groups or ethnicities in the Philippines, and genetic counselors may encounter clients with diverse beliefs, inscribed by their culture, about health conditions. Thus, clients may attribute the cause of a birth defect to a socio-culturally based health belief. The present study aimed to explore the beliefs on the causes of birth defects held by mothers of children diagnosed to have birth defects. The study was conducted as a qualitative descriptive pilot study in Baguio General Hospital and Medical Health Center (BGHMC), a birth defect surveillance site tertiary care hospital in the Philippines. Participants were mothers of children diagnosed to have birth defects at the BGHMC. In-depth interviews were used to collect data from 18 participants aged 18-46 years. Birth defect conditions of the participants' children included congenital heart defect, cleft lip and palate, hydrocephalus, imperforate anus, hypospadias, and microcephaly. When the participants were asked about their views on the causes of birth defects in their children, they perceived that genetics or heredity, stress, a fall during pregnancy, maternal sickness, teenage pregnancy, thin uterine lining, twin-twin transfusion syndrome, and God's will have caused it. Findings also showed that mothers of children with the birth defect have both biomedically and socio-culturally based health beliefs. Awareness of these health belief systems will help the genetic counselor provide appropriate genetics education and psychosocial support to their clients.
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BACKGROUND: The genetic risk communication from proband to relatives varies from family to family, and patients often need support with the communication of genetic test results and making decisions to manage hereditary cancer risks. OBJECTIVE: The aim of this study was to characterize the communication of BRCA1 or BRCA2 (BRCA1/2) genetic risk from proband to first-degree relatives (FDRs) using a social network framework. METHODS: We characterized network and nonnetwork factors to explore their association with which FDRs were told about the genetic risk and whether or not relatives underwent genetic testing. Ninety-two female probands with hereditary breast and ovarian cancer who have confirmed BRCA1/2 mutations participated in the study. Communication of hereditary breast and ovarian cancer risk was assessed between 92 probands and their 417 FDRs. RESULTS: Of 92 probands, 94.5% (n = 87) communicated their genetic test result to at least one of their FDRs. Of FDRs older than 18 years, 19.9% (n = 72) have genetic testing. Emotional closeness, educational level of the proband, and relative's age were significantly associated with communicating test results with FDRs. CONCLUSION: Communication of genetic risk with the FDRs after having a BRCA1/2 gene-mutation-positive test result was high in this group of cancer patients. However, the rate of genetic testing among FDRs was low. IMPLICATIONS FOR PRACTICE: Probands' educational level and age of relatives for cascade genetic screening should be considered during counseling. Interventions to support women with BRCA1/2 mutations during the communication process and their family members' engagement in testing and risk-reducing strategies are needed.
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Neoplasias de la Mama , Neoplasias Ováricas , Neoplasias de la Mama/genética , Comunicación , Femenino , Predisposición Genética a la Enfermedad , Pruebas Genéticas , Humanos , Mutación , Neoplasias Ováricas/genéticaRESUMEN
BACKGROUND: When a woman is diagnosed with hereditary breast or ovarian cancer, family members may be at high risk of cancers associated with BRCA1/2 gene mutation and benefit from disclosure of the genetic test result. This duty of informing relatives may be distressing, or relatives may not be properly informed. OBJECTIVE: To qualitatively describe breast cancer patients' experiences communicating genetic risk of cancer to their relatives. METHODS: Probands with BRCA1/2 gene mutations were recruited from an oncology institute in Istanbul, Turkey, and interviewed by telephone. Qualitative content analysis was conducted to derive central elements of the 30 women's experiences communicating genetic risk to their relatives. RESULTS: Six themes were identified: response to genetic test results, reason for communication, feelings about communication, reflection after communication, results of communication, and needs. CONCLUSION: Women with cancer found to have BRCA1/2 gene mutations tended to share their genetic test results within the family. The main motives for sharing test results were the desire to encourage relatives to get tested and moral and ethical convictions. Women needed explicit information regarding cancer risk and risk-reducing strategies to act upon. IMPLICATIONS FOR PRACTICE: The women's feelings and reflections about the communication process were varied and suggest that personalized genetic risk communication interventions may better support women with BRCA1/2 gene mutations during and after communication with relatives. Long-term follow-up of those women is essential because of the need for informed decision on risk-reducing strategies.
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Neoplasias de la Mama/psicología , Revelación , Genes BRCA1 , Pruebas Genéticas/estadística & datos numéricos , Neoplasias Ováricas/psicología , Adulto , Neoplasias de la Mama/genética , Familia , Femenino , Predisposición Genética a la Enfermedad/psicología , Humanos , Persona de Mediana Edad , Motivación , Mutación , Neoplasias Ováricas/genética , Factores de Riesgo , TurquíaRESUMEN
BACKGROUND: A positive family history of type 2 diabetes (T2D) has been associated with risk awareness and risk-reducing behaviours among the unaffected relatives. Yet, little is known about how people with a positive family history for diabetes develop and manage their personal sense of risk. OBJECTIVE: To characterize two key concepts, salience and vulnerability, within the familial risk perception (FRP) model among unaffected individuals, at increased familial risk for T2D. DESIGN: We conducted a mixed method study. Descriptions of salience and vulnerability were collected through semi-structured interviews. Participant's perception of self-reported risk factors (family history, age, race/ethnicity, medical history, weight and exercise) was measured using the Perceived Risk Factors for T2D Tool and was compared to a clinical evaluation of the same risk factors. RESULTS: We identified two components of salience: (a) concern for developing T2D and (b) risk awareness triggers, and two features of vulnerability: (a) statement of risk and (b) risk assessment devices. Although few participants (26%) were concordant between their perceived and clinical overall T2D risk, concordance for individual risk factors was higher, ranging from 42% (medical history) to 90% (family history). DISCUSSION AND CONCLUSION: Both familial and non-familial events lead people to contemplate their T2D risk, even among people who have a positive family history. Participants often downplayed their overall risk and underestimated their overall risk compared to a clinical risk assessment of the same self-reported risk factors. Clinicians could leverage key components of the FRP process as way to engage patients in risk reduction strategies earlier.
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Diabetes Mellitus Tipo 2/genética , Predisposición Genética a la Enfermedad , Medición de Riesgo , Conducta de Reducción del Riesgo , Adulto , Femenino , Estado de Salud , Humanos , Entrevistas como Asunto , Masculino , Anamnesis , Persona de Mediana Edad , AutoinformeRESUMEN
INTRODUCTION: Programs for assertive community treatment (PACT) serve persons with severe mental illness who have been unsuccessful with traditional outpatient services. Many PACT clients struggle to obtain symptom relief with medications that often have poor efficacy and undesired side effects, which can result in nonadherence, relapse, and increased health care utilization with associated costs. AIMS: This quality improvement project aimed to improve client and PACT program outcomes by incorporating pharmacogenomic testing into the psychopharmacological decision-making process. METHODS: The project used a pre-posttest design with each client serving as their own control to evaluate changes in clients' symptoms and program outcomes resulting from pharmacogenomics-guided medication management. RESULTS: Following project implementation, clients' symptoms were decreased and both engagement in care and stability in the community increased. Psychiatric hospitalizations and associated costs decreased. CONCLUSIONS: This project suggests utility for using pharmacogenomics testing to personalize care for persons with severe mental illness.
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Servicios Comunitarios de Salud Mental , Trastornos Mentales/tratamiento farmacológico , Grupo de Atención al Paciente/organización & administración , Pruebas de Farmacogenómica , Medicina de Precisión , Enfermedad Crónica/tratamiento farmacológico , Femenino , Humanos , Masculino , Persona de Mediana Edad , Evaluación de Programas y Proyectos de Salud , Mejoramiento de la CalidadRESUMEN
People who have a single first-degree relative with type 2 diabetes (T2D) are at increased risk for developing T2D over their lifetime. A positive family history of T2D is also associated with developing risk awareness and engaging in risk-reducing behaviors among the unaffected relatives. Yet, little is known about how people with a positive family history for disease personalize and process their familial risk to form perceptions about their own risk. In this mixed method study, we explored risk personalization among a diverse group of people between the ages of 18 and 60, with a positive family history of T2D, who were themselves unaffected (n = 109). We collected interview and survey data with respect to the familial risk perception personalization model. Using cluster analysis, qualitative and quantitative data were combined to inductively derive three distinct clusters representing three different familial risk perception personalization processes. These results can serve as a basis for tailored interventions aimed at reducing risk for T2D among people with increased risk due to familial history.
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Comunicación , Diabetes Mellitus Tipo 2/genética , Familia/psicología , Predisposición Genética a la Enfermedad , Pacientes/psicología , Relaciones Médico-Paciente , Adulto , Anciano , Anciano de 80 o más Años , Actitud Frente a la Salud , Femenino , Humanos , Masculino , Persona de Mediana Edad , Factores de Riesgo , Encuestas y CuestionariosRESUMEN
The purpose of this study was to identify characteristics of family relationships associated with communication of genetic risk and testing behaviors among at-risk relatives in families with an inherited cardiac condition. Data were collected from 53 patients and parents of children with an inherited cardiac condition through interviews, pedigrees, and surveys. Associations were examined among family relationship characteristics and whether at-risk relatives were informed about their risk and tested for disease. Of 1,178 at-risk relatives, 52.5% were informed about their risk and 52.1% of those informed were tested. Emotional closeness, relationship quality, and communication frequency had significant bivariate associations with genetic risk communication. Communication frequency was associated with genetic risk communication and testing in multivariate models. This study provides new insight into the extent of genetic risk communication and testing in families with inherited cardiac conditions. Family relationships, especially communication frequency, are critical factors in family communication of genetic risk.
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Comunicación , Familia/psicología , Predisposición Genética a la Enfermedad , Pruebas Genéticas , Cardiopatías/genética , Estudios Transversales , Cardiopatías/diagnóstico , Humanos , Encuestas y CuestionariosRESUMEN
PURPOSE: To establish the knowledge needed to integrate the multiple branches of omics into nursing research to accelerate achieving the research recommendations of the Genomic Nursing Science Blueprint. METHODS: The creation of the Genomic Knowledge Matrix occurred in three phases. In phase 1, the Omics Nursing Science and Education Network (ONSEN) Education Workgroup completed an evidence, bioinformatics, and technology review to inform the components of the Matrix. The ONSEN Advisory Panel then reviewed and integrated revisions. Phase 3 solicited targeted public comment focused on education and research experts, and applicable revisions were made. FINDINGS: The Genomic Knowledge Matrix establishes the following content areas: cellular and molecular biology, system physiology, microbiology, and translational bioinformatics as the minimum required preparation for nurse scientists to understand omics and to integrate this knowledge into research. The Matrix also establishes levels of understanding needed to function based on the role of the nurse scientist. CONCLUSIONS: The Genomic Knowledge Matrix addresses knowledge important for nurse scientists to integrate genomics into their research. Building on prior recommendations and existing genomic competencies, the Matrix was designed to present key knowledge elements critical to understand omics that underpin health and disease. Knowledge depth varies based on the research role. CLINICAL RELEVANCE: The Genomic Knowledge Matrix provides the vital guidance for training nurse scientists in the integration of genomics. The flexibility of the Matrix also provides guidance to inform fundamental genomic content needed in core science content in undergraduate and graduate level nursing curricula.
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Competencia Clínica/normas , Educación en Enfermería/organización & administración , Genómica/educación , Biología Computacional , Curriculum , Educación en Enfermería/normas , Humanos , Comunicación Interdisciplinaria , National Cancer Institute (U.S.) , National Human Genome Research Institute (U.S.) , National Institute of Nursing Research (U.S.) , Enfermeras y Enfermeros , Investigación en Educación de Enfermería , Estados UnidosRESUMEN
Screening for hereditary cardiomyopathies and arrhythmias (HCA) may enable early detection, treatment, targeted surveillance, and result in effective prevention of debilitating complications and sudden cardiac death. Screening at-risk family members for HCA is conducted through cascade screening. Only half of at-risk family members are screened for HCA. To participate in screening, at-risk family members must be aware of their risk. This often relies on communication from diagnosed individuals to their relatives. However, family communication is not well understood and is ripe for developing interventions to improve screening rates. Until very recently, family communication of genetic risk has been mostly studied in non-cardiac disease. Using this non-cardiac literature, we developed the family communication of genetic risk (FCGR) conceptual framework. The FCGR has four main elements of the communication process: influential factors, communication strategies, communication occurrence, and reaction to communication. Using the FCGR, we conducted an integrated review of the available literature on genetic risk communication in HCA families. Descriptive analysis of 12 articles resulted in the development of categories describing details of the FCGR elements in the context of HCA. This review synthesizes what is known about influential factors, communication strategies, communication occurrence, and outcomes of communication in the context of HCA.
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Cardiomiopatías/diagnóstico , Cardiomiopatías/genética , Familia , Predisposición Genética a la Enfermedad , Adulto , Niño , Pruebas Genéticas/métodos , Humanos , Estudios RetrospectivosRESUMEN
Using the familial risk perception (FRP) model as a framework, we elicited causal and inheritance explanations for type 2 diabetes (T2D) from people who do not have T2D but have a family history for it. We identified four composite mental models for cause of T2D: (a) purely genetic; (b) purely behavioral/environmental; (c) direct multifactorial, in which risk factors interact and over time directly lead to T2D; and (d) indirect multifactorial, in which risk factors interact and over time cause a precursor health condition (such as obesity or metabolic syndrome) that leads to T2D. Interestingly, participants described specific risk factors such as genetics, food habits, lifestyle, weight, and culture as "running in the family." Our findings provide insight into lay beliefs about T2D that can be used by clinicians to anticipate or make sense of responses to questions they pose to patients about mental models for T2D.
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Diabetes Mellitus Tipo 2/psicología , Anamnesis , Modelos Psicológicos , Adolescente , Adulto , Diabetes Mellitus Tipo 2/etiología , Diabetes Mellitus Tipo 2/genética , Femenino , Predisposición Genética a la Enfermedad/psicología , Estado de Salud , Humanos , Entrevistas como Asunto , Masculino , Persona de Mediana Edad , Factores de Riesgo , Adulto JovenRESUMEN
AIMS AND OBJECTIVES: The aim of the study was to determine the rate of use of prenatal screening tests and the factors affecting the decision to have a prenatal screening test in pregnant women in Turkey. BACKGROUND: Prenatal genetic screening as an optional service is commonly used to determine a level of risk for genetic conditions in the foetus. DESIGN: A quantitative cross-sectional survey. METHODS: Pregnant women (n = 274) who sought prenatal care from one hospital in Turkey were recruited and asked to complete questionnaires that were developed by the researchers. Descriptive and inferential statistics were used to analyse the data. RESULTS: Almost half (44·2) % of the women were primiparas, and the majority (97·8%) were in the third trimester of pregnancy. Only 36·1% of the women reported that they had prenatal screening by either the double test or triple test. Women had a low level of knowledge regarding prenatal screening: the mean knowledge score was 3·43 ± 3·21 of a possible score of 10. Having consanguineous marriage, a history of spontaneous abortion, a child with genetic disorder, multiparity or a longer marriage duration were positively correlated with accepting a prenatal screening test. CONCLUSIONS: This study has provided baseline data on the uptake and reasons for accepting or declining a prenatal screening in a cohort of Turkish women. There is evidence to suggest that more education is needed to improve knowledge and provide comprehensive nursing care to promote informed consent in this context. RELEVANCE TO CLINICAL PRACTICE: Perinatal nurses are ideally situated to inform pregnant women about prenatal screening tests to improve access to healthcare services and to ensure informed decisions are made by pregnant women and their partners.
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Síndrome de Down/diagnóstico , Pruebas Genéticas/estadística & datos numéricos , Conocimientos, Actitudes y Práctica en Salud , Atención Prenatal , Adulto , Estudios Transversales , Toma de Decisiones , Femenino , Humanos , Consentimiento Informado , Masculino , Servicios de Salud Materna , Embarazo , Encuestas y Cuestionarios , TurquíaRESUMEN
Congenital adrenal hyperplasia (CAH), like other genetic conditions, is a relational disease from both the biological and psychosocial perspectives since the diagnosis gives rise to a variety of health, reproductive, and psychosocial implications. It is in these contexts that family communication of genetic information is important to study. Hence, this research aimed to explore genetic information communication in Filipino families affected with CAH. Using a qualitative descriptive design, families with a child affected with CAH were recruited through the CAH parent support group and were interviewed. Semi-structured interviews explored flow and content of genetic information communicated, the meanings the families attach to the communicated information, and the motivating and hindering factors in communication. Thematic analysis was used to analyze the findings. A total of five families participated, which included 11 individuals. Findings revealed that the diagnosis of CAH is not kept secret and it is openly shared with the family. The decision to communicate is influenced by several factors including the family's desire to seek further information about their family history. Initially, the focus of the communicated information is on the health implications and while communication about genetics occurs, this is almost always confined to the immediate family. The mother and grandmother serve as primary communicators in the family. The families have limited understanding of CAH especially its genetic implications including recurrence risk and carrier status. The findings can guide genetic counselors in supporting families in communicating information about CAH with the rest of the family.
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Hiperplasia Suprarrenal Congénita/etnología , Hiperplasia Suprarrenal Congénita/genética , Comunicación , Familia/etnología , Asesoramiento Genético/psicología , Adolescente , Adulto , Femenino , Humanos , Persona de Mediana Edad , Filipinas , Adulto JovenRESUMEN
BACKGROUND AND PURPOSE: This study evaluated the psychometric properties of the Perception of Risk Factors for Type 2 Diabetes (PRF-T2DM), an instrument designed to measure awareness and vulnerability to diabetes and diabetes risk factors. METHODS: 248 individuals at increased risk for diabetes because of a positive family history completed the PRF-T2DM. The factor-structure, internal consistency reliability, and construct validity of the PRF-T2DM were examined. RESULTS: The 2-factor structure of the PRFT2DM was a good fit to our data. Overall Cronbach's alpha was .68. Pearson correlation between PRF-T2DM score and overall risk perception was significant (r = .26, p < .001). Replies to individual items supported the validity of the PRF-T2DM. CONCLUSION: The PRF-T2DM performed modestly in this population. Refinement in scoring and score interpretation may improve reliability and validity of the instrument.
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Diabetes Mellitus Tipo 2/diagnóstico , Conocimientos, Actitudes y Práctica en Salud , Evaluación en Enfermería , Psicometría , Adulto , Diabetes Mellitus Tipo 2/enfermería , Diabetes Mellitus Tipo 2/psicología , Femenino , Humanos , Masculino , Reproducibilidad de los Resultados , Factores de RiesgoRESUMEN
PURPOSE: This bibliometric review profiles the focus, dissemination, and impact of genomic nursing science articles from 2010 to 2014. DESIGN: Data-based genomic nursing articles by nursing authors and articles by non-nurse principal investigators funded by the National Institute of Nursing Research were categorized into the Genomic Nursing Science Blueprint nursing areas. METHODS: Bibliometric content analysis was used. FINDINGS: A total of 197 articles met the inclusion criteria. Of these, 60.3% were on biologic plausibility, 12.1% on client self-management, 11.1% on decision making or decision support, 8.1% on family, and 4.0% on communication, with the remaining 4.0% of articles focused on other topics. Few (11.6%) addressed healthcare disparities in the study purpose. Thirty-four references (17.2%) were cited 10 or more times. CONCLUSIONS: Research-based genomic nursing science articles are in the discovery phase of inquiry. All topics were investigated in more than one country. Healthcare disparities were addressed in few studies. Research findings from interdisciplinary teams were disseminated beyond nursing audiences, with findings addressing biologic discovery, decision making or support, and family being cited most frequently. Gaps in the reviewed articles included cross-cutting themes, ethics, and clinical utility. Interdisciplinary research is needed to document clinical and system outcomes of genomic nursing science implementation in health care. CLINICAL RELEVANCE: Although the review identifies areas that are encountered in clinical practice, relevance to practice will depend on evaluation of findings and subsequent development of clinical guidelines.