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1.
Endocr Pract ; 29(12): 960-970, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37778441

RESUMO

OBJECTIVE: Postprandial hyperglycemia drives insulin resistance and inflammation, leading to metabolic dysfunction-associated fatty liver disease (MAFLD). Prediction of postprandial glycemic responses by digital twin (DT) technology can fashion a personalized nutrition, activity, and sleep to treat type 2 diabetes (T2D) and MAFLD. This study examines the effects of DT-enabled personalized nutrition, activity, and sleep on glycemic status, surrogate markers of MAFLD, and magnetic resonance imaging-derived proton density fat fraction (MRI-PDFF) in patients with T2D. METHODS: In an open-label randomized trial (2:1), 319 people with T2D were eligible to intervention (DT) or standard care (SC). DT patients followed personalized meal plans with foods suggested by artificial intelligence with least predicted postprandial glycemic response. The primary end point was to compare change in hemoglobin A1c (HbA1c) and medicine reduction between the DT and SC groups. Key secondary end points included remission to compare liver function test scores and visceral adiposity using MRI. RESULTS: HbA1C was significantly better for DT than for SC (-2.9 [1.8] vs -0.3 [1.2]; P < .001) at 1 year with 72.7% remission of T2D. In patients with abnormal baseline values, significant improvements were seen in DT vs SC patients from baseline to 1 year in nonalcoholic fatty liver disease liver fat score (mean [SD]; -2.5 [2.0] vs -0.1 [1.5]; P < .001) and nonalcoholic fatty liver disease fibrosis score (-1.20 [0.9] vs -0.1 [1.0]; P < .001), respectively. Improvements are seen with DT compared with SC in other liver fat, fibrosis score, and %liver fat by MRI-PDFF. CONCLUSION: At 1 year, DT-enabled personalized treatment significantly improved hyperglycemia and surrogate markers of MAFLD and MRI-PDFF.


Assuntos
Diabetes Mellitus Tipo 2 , Hepatopatia Gordurosa não Alcoólica , Humanos , Hepatopatia Gordurosa não Alcoólica/terapia , Hepatopatia Gordurosa não Alcoólica/tratamento farmacológico , Diabetes Mellitus Tipo 2/terapia , Diabetes Mellitus Tipo 2/tratamento farmacológico , Inteligência Artificial , Fígado , Imageamento por Ressonância Magnética/métodos , Hemoglobinas Glicadas , Biomarcadores , Fibrose
2.
Stud Health Technol Inform ; 304: 76-77, 2023 Jun 22.
Artigo em Inglês | MEDLINE | ID: mdl-37347574

RESUMO

The COVID-19 pandemic has placed unprecedented strain on global health systems, and the ability to safely and effectively deliver care. Further, it has impacted the mental health of global populations, in particular healthcare providers (i.e., physicians, nurses). In a service delivery context, much can be learned about empathy both from a provider and patient lens. Thus, the literature was explored to see if the concept of journey mapping was used to illustrate the intersections and pain points of the clinical workflow along the physician journey.


Assuntos
Esgotamento Profissional , COVID-19 , Médicos , Humanos , Pandemias , Empatia , Aprendizagem
3.
Nurs Outlook ; 71(3): 101958, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36963372

RESUMO

Advances in technologies including omics, apps, imaging, sensors, and big data are increasingly being integrated into research by nurse scientists, but the impact on improving health equity is still unclear. In this article, nursing research faculty from one institution discuss challenges and opportunities experienced when integrating various technologies into their research aimed at promoting health equity. Using exemplars from faculty experiences, a three-pronged approach to keeping patients and communities and the goal of health equity central in research while incorporating advancing technologies is described. This approach includes establishing long-term engagement with populations underrepresented in research, adopting strategies to increase diversity in study participant recruitment, and training and collaboration among a diverse workforce of educators, clinicians, and researchers. Training nurse scientists in integrating data and technology for advancing the science on health equity will shift the culture of how we understand, collaborate, and grow with the communities in which we train and practice as nurse scientists.


Assuntos
Equidade em Saúde , Pesquisa em Enfermagem , Humanos , Promoção da Saúde , Pesquisa em Enfermagem/métodos , Docentes de Enfermagem , Recursos Humanos
4.
CBE Life Sci Educ ; 21(4): ar63, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-36112618

RESUMO

Teacher content knowledge has been identified as a key prerequisite to effective instruction, and current educational policies require measurement of teacher content knowledge to assess candidacy for licensure. The primary instruments used in the United States are the Praxis Subject Assessment exams, which are designed to measure the subject-specific content knowledge needed to be a teacher. The Praxis Biology Subject Assessment exam, used by 42 U.S. states in the past decade, is the most common national measure used to determine biology content knowledge for teacher certification. Demographic and performance data from examinees (N = 43,798) who took the Praxis Biology Subject Assessment from 2006 to 2015 were compared to present a much-needed picture of who is seeking certification to teach biology, how different groups of aspiring biology teachers have performed, and how demographic makeup of prospective biology teachers compares with reports in previous studies describing the composition of the biology teacher workforce. Results indicate the majority of students self-reported as White (76%), female (66%), having undergraduate grade point averages (GPAs) at or above a 3.0 (76%) and majoring in biology (45%). Additionally, the demographic data were included in a linear regression model to determine the factors that explained the most variance in performance of the examinee. The model revealed substantial differences in average performance and pass rates between examinees of different genders, races, undergraduate majors, undergraduate GPAs, and census regions. This suggests that if the examinee is a White science, technology, engineering, and mathematics major, man with a 3.5 or higher undergraduate GPA, resides in the western United States, or plans to teach in a suburban school, the examinee will on average outperform their counterparts on the exam. From our analyses, we suggest several measures for the improvement of the biology teaching workforce and establish potential issues in the teacher pipeline that may impact the quality and diversity of U.S. biology teachers.


Assuntos
Certificação , Estudantes , Biologia , Feminino , Humanos , Estudos Longitudinais , Masculino , Estudos Prospectivos , Estados Unidos
5.
Cancer Nurs ; 45(1): E91-E98, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-32804756

RESUMO

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.


Assuntos
Neoplasias da Mama , Neoplasias Ovarianas , Neoplasias da Mama/genética , Comunicação , Feminino , Predisposição Genética para Doença , Testes Genéticos , Humanos , Mutação , Neoplasias Ovarianas/genética
6.
Clin Diabetes Endocrinol ; 7(1): 21, 2021 Nov 15.
Artigo em Inglês | MEDLINE | ID: mdl-34776010

RESUMO

BACKGROUND: Type 2 diabetes reversal has been viewed in the literature primarily as a dichotomous event (reversed or not reversed), even though this viewpoint may not be optimal for clinicians or patients. This cohort study's objectives were to define stages of type 2 diabetes reversal and measure changes in reversal stages before and after 90 days of digital twin-enabled precision nutrition therapy. METHODS: This study defines seven stages of diabetes reversal. The study is a retrospective pre/post comparison of changes in reversal stage, hemoglobin A1c (HbA1c), weight, body mass index (BMI), and other metrics measured before and after precision nutrition therapy. Reversal stages were defined as Stage 0: HbA1c < 5.7% without medication for > 1 year, Stage 1: HbA1c < 5.7% without medication for < 1 year, Stage 2: HbA1c < 6.5% without medication, Stage 3: estimated HbA1c (eA1c) between 5.7 and 6.4% without medication, Stage 4: estimated HbA1c (eA1c) between 5.7 and 6.4% with metformin monotherapy, Stage 5: dual oral therapy, Stage 6: > = 3 medications. RESULTS: Reversal stage information was available for 463 patients at baseline and 90 days. At baseline, the proportions of patients in each reversal stage were Stages 1 and 2: 0%, Stage 3: 1%, Stage 4: 8%, Stage 5: 6%, and Stage 6: 85%. After 90 days, the proportions in each reversal stage were Stage 1: 2%, Stage 2: 9%, Stage 3: 32%, Stage 4: 39%, Stage 5: 7%, and Stage 6: 11%, indicating significant progress. Reversal stage progression rates varied by patient subgroup. CONCLUSIONS: Type 2 diabetes patients reached differing reversal stages during 90 days of precision nutrition therapy. Use of reversal stages may benefit patients during therapy. TRIAL REGISTRATION: This was a retrospective study that was approved by the Medisys Clinisearch Ethical Review Board (without registration number) in 2019.

7.
Cancer Nurs ; 44(3): E142-E150, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-32022782

RESUMO

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.


Assuntos
Neoplasias da Mama/psicologia , Revelação , Genes BRCA1 , Testes Genéticos/estatística & dados numéricos , Neoplasias Ovarianas/psicologia , Adulto , Neoplasias da Mama/genética , Família , Feminino , Predisposição Genética para Doença/psicologia , Humanos , Pessoa de Meia-Idade , Motivação , Mutação , Neoplasias Ovarianas/genética , Fatores de Risco , Turquia
8.
Cureus ; 12(9): e10603, 2020 Sep 22.
Artigo em Inglês | MEDLINE | ID: mdl-33133806

RESUMO

Dementia, a disabling syndrome of the elderly characterized by the decline in memory and cognition, is increasing in incidence and affects not only the individual but also their family and close ones. Hyperthyroidism can mimic many other diseases and untreated hyperthyroidism can lead to adverse problems of various systems including the heart, bones, muscles, menstrual cycle, and fertility. In this article, we have tried to evaluate the association between hyperthyroidism and dementia, as well as the impact of hyperthyroidism management in the treatment and prevention of dementia. Studies available in the PubMed database have been used, excluding animal studies and including studies of adults above the age of 50. The analysis of studies reveals that thyroid dysfunction can lead to cognitive impairment. It has not been able to prove that hyperthyroidism can lead to an earlier onset of dementia. But subclinical hyperthyroidism, thyroid-stimulating hormone (TSH) levels below the normal range, and high free thyroxine (T4) levels increase the risk of dementia among the elderly. The possible mechanisms involved in this association have also been discussed. Thus, we concluded that it is essential to detect and manage hyperthyroidism at an earlier stage since hyperthyroidism increases the risk of dementia. The possibility of using antithyroid treatment in euthyroid dementia is yet to be studied extensively.

9.
Cureus ; 12(10): e10816, 2020 Oct 05.
Artigo em Inglês | MEDLINE | ID: mdl-33173624

RESUMO

Vitamin K (VK) has an established biological function in blood coagulation and hemostasis and maintains general health and bone wellbeing. VK supplements have been promoted to treat and prevent many diseases, particularly for decreasing fracture risk in osteoporosis, a chronic condition described by weak bone tissue, and a high fracture risk following minor trauma. It affects older people from different races and ethnicity, mainly postmenopausal women. Many kinds of research emphasize the role of VK in improving bone health and preventing osteoporotic bone fracture, but the findings are mostly inconclusive. In this literature review, PubMed and Google Scholar databases were used as the primary sources to select the relevant studies and review the association between VK and bone health and also, to explore the impact of VK supplementation in osteoporosis management. A majority of studies reported that VK has an essential role in promoting bone health. Although some studies revealed that VK might increase bone mineral density and reduce fracture risk in people with osteoporosis, VK supplements' potential benefits were not sufficiently supported. Thus, more clinical studies are needed to determine the positive effects of VK supplementation in osteoporosis prevention and treatment.

10.
Cureus ; 12(10): e10944, 2020 Oct 14.
Artigo em Inglês | MEDLINE | ID: mdl-33072443

RESUMO

Rheumatoid arthritis and systemic lupus erythematosus (SLE) are autoimmune diseases that are commonly seen in the female population. Rheumatoid arthritis mainly consists of distal symmetrical deforming polyarthritis. SLE patients have immune complexes that damage the organs and systems of the body, and this can present with one or more symptoms including the characteristic malar rash, serositis, lupus nephritis, photosensitivity, and arthritis of large joints. The onset and progression of the diseases are affected by physiological processes that occur in the body such as menopause and aging. The studies used as evidence were found in the PubMed, ScienceDirect, ProQuest, Taylor & Francis Online, Wiley Online Library, Ovid, and Oxford Academic databases. By analyzing these studies, the effects of aging and menopause on rheumatoid arthritis and SLE were revealed. In relation to menopause and aging, it was found that there was a progression of disease in women who had rheumatoid arthritis. However, aging and menopause caused the progression of SLE to decrease in women. An earlier age of onset of menopause was correlated with an increased chance of developing rheumatoid arthritis and SLE. Furthermore, while some studies showed that a later onset of SLE caused an increase in the progression of the disease, other studies showed that a later onset of SLE led to a decrease in the progression of the disease. Due to the prevalence of rheumatoid arthritis and SLE in females, we believe that the effects of menopause, age, and other factors on these two diseases should be examined in future studies.

11.
Cureus ; 12(10): e10811, 2020 Oct 05.
Artigo em Inglês | MEDLINE | ID: mdl-33042653

RESUMO

Polycystic ovarian syndrome (PCOS) is the most common endocrine disorder in reproductive-age women that causes infertility. Obesity and insulin resistance are closely tied to the pathophysiology of PCOS. Current first-line treatments include lifestyle modifications, hormone modulators, and laparoscopic ovarian drilling, but little attention has been given to bariatric surgery as a viable option. A detailed review of the literature regarding the outcomes of obese women with PCOS after bariatric surgery is necessary. All studies were found in the PubMed database, limited to females and humans, and selected due to relevancy and quantitative data. Bariatric surgery promotes significant weight loss within one year, which is associated with amelioration of insulin resistance, hyperandrogenism, menstrual irregularity, and ovulatory dysfunction. Surgery successfully mediates the regression of PCOS and promotes successful pregnancy. Thus, we recommend the consideration of bariatric surgery as part of the main treatment considerations in obese patients with PCOS. However, more focused and comprehensive research with better study designs are still needed in the future to investigate PCOS and bariatric surgery.

12.
PLoS One ; 15(7): e0235491, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32658908

RESUMO

Noise-induced hearing loss (NIHL) affects millions of people worldwide and presents a large social and personal burden. Pharmacological activation of SIRT3, a regulator of the mitochondrial oxidative stress response, has a protective effect on hearing thresholds after traumatic noise damage in mice. In contrast, the role of endogenously activated SIRT3 in hearing recovery has not been established. Here we tested the hypothesis that SIRT3 is required in mice for recovery of auditory thresholds after a noise exposure that confers a temporary threshold shift (TTS). SIRT3-specific immunoreactivity is present in outer hair cells, around the post-synaptic regions of inner hair cells, and faintly within inner hair cells. Prior to noise exposure, homozygous Sirt3-KO mice have slightly but significantly higher thresholds than their wild-type littermates measured by the auditory brainstem response (ABR), but not by distortion product otoacoustic emissions (DPOAE). Moreover, homozygous Sirt3-KO mice display a significant reduction in the progression of their peak 1 amplitude at higher frequencies prior to noise exposure. After exposure to a single sub-traumatic noise dose that does not permanently reduce cochlear function, compromise cell survival, or damage synaptic structures in wild-type mice, there was no difference in hearing function between the two genotypes, measured by ABR and DPOAE. The numbers of hair cells and auditory synapses were similar in both genotypes before and after noise exposure. These loss-of-function studies complement previously published gain-of-function studies and help refine our understanding of SIRT3's role in cochlear homeostasis under different damage paradigms. They suggest that SIRT3 may promote spiral ganglion neuron function. They imply that cellular mechanisms of homeostasis, in addition to the mitochondrial oxidative stress response, act to restore hearing after TTS. Finally, we present a novel application of a biomedical statistical analysis for identifying changes between peak 1 amplitude progressions in ABR waveforms after damage.


Assuntos
Percepção Auditiva , Audição/fisiologia , Ruído , Sirtuína 3/metabolismo , Animais , Técnicas de Inativação de Genes , Masculino , Camundongos , Sirtuína 3/deficiência , Sirtuína 3/genética
13.
Health Expect ; 23(1): 169-181, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31646744

RESUMO

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.


Assuntos
Diabetes Mellitus Tipo 2/genética , Predisposição Genética para Doença , Medição de Risco , Comportamento de Redução do Risco , Adulto , Feminino , Nível de Saúde , Humanos , Entrevistas como Assunto , Masculino , Anamnese , Pessoa de Meia-Idade , Autorrelato
14.
PLoS One ; 14(9): e0223186, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31553781

RESUMO

The U.S. government has acknowledged the critical role that teachers play in the production of Science, Technology, Engineering, and Mathematics (STEM) professionals who will drive our nation's economy. The No Child Left Behind Act of 2001 (NCLB) was passed to improve the quality of education nationwide, in part, by decreasing the number of out-of-field (OOF) teachers. However, the impact of NCLB and related efforts on the current state of OOF teaching in high school science and mathematics has yet to be examined. Our analysis of data from the National Teacher and Principal Survey (NTPS) indicates that from 2003-2016, the proportion of OOF teachers in chemistry and physics has increased, and there has been an increase in the number of students assigned to OOF teachers across subjects. We discuss the societal impact of our results and the critical role that policymakers, school administrators, and academic institutions, particularly university faculty, can play in its solution.


Assuntos
Aprendizagem Baseada em Problemas/tendências , Professores Escolares/estatística & dados numéricos , Instituições Acadêmicas/tendências , Desempenho Acadêmico/estatística & dados numéricos , Desempenho Acadêmico/tendências , Engenharia/educação , Humanos , Matemática/educação , Aprendizagem Baseada em Problemas/métodos , Aprendizagem Baseada em Problemas/estatística & dados numéricos , Professores Escolares/organização & administração , Instituições Acadêmicas/organização & administração , Instituições Acadêmicas/estatística & dados numéricos , Ciência/educação , Estudantes/estatística & dados numéricos , Inquéritos e Questionários/estatística & dados numéricos , Tecnologia/educação , Estados Unidos
15.
Res Nurs Health ; 42(5): 369-381, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31368184

RESUMO

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.


Assuntos
Comunicação , Diabetes Mellitus Tipo 2/genética , Família/psicologia , Predisposição Genética para Doença , Pacientes/psicologia , Relações Médico-Paciente , Adulto , Idoso , Idoso de 80 Anos ou mais , Atitude Frente a Saúde , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Inquéritos e Questionários
16.
J Fam Nurs ; 25(3): 395-418, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31354015

RESUMO

Stressors generated by chronic illnesses in adolescents are experienced in the broader social context of their lives. The purpose of this study was to examine the social networks of 15 adolescents with type 1 diabetes and 25 parents and evaluate associations of social support and kinship type with state and trait anxiety. Social network data were collected through individual interviews. Participants completed self-reported measures of anxiety. Adolescents with lower anxiety had greater overlap with their parents' networks and more network members with whom they would not share their feelings. Parents with increased anxiety had more network members who provide support for everyday stressors, or with whom they lose their temper. The type of support provided by biological and social kin differed for adolescents versus parents. Tailored interventions leveraging existing social networks could be a key mechanism for supporting family responses to stress-provoking situations in the context of childhood chronic illness.


Assuntos
Adaptação Psicológica , Comportamento do Adolescente/psicologia , Doença Crônica/psicologia , Diabetes Mellitus Tipo 1/psicologia , Pais/psicologia , Rede Social , Estresse Psicológico , Adolescente , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Meio-Oeste dos Estados Unidos
17.
Biol Res Nurs ; 21(4): 349-354, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-31023072

RESUMO

Incorporating biologically based data into symptom science research can contribute substantially to understanding commonly experienced symptoms across chronic conditions. The purpose of this literature review was to identify functional polymorphisms associated with common symptoms (i.e., pain, sleep disturbance, fatigue, affective and cognitive symptoms) with the goal of identifying a parsimonious list of functional genetic polymorphisms with evidence to advocate for their inclusion in symptom science research. PubMed was searched to identify genes and functional polymorphisms associated with symptoms across chronic conditions, revealing eight functional genetic polymorphisms in seven different genes that showed evidence of association with at least three or more symptoms and/or symptom clusters: BDNF rs6265, COMT rs4680, FKBP5 rs3800373, IL-6 rs1800795, NFKB2 rs1056890, SLC6A4 5-HTTLPR+rs25531, and TNFA rs1799964 and rs1800629. Of these genes, three represent protein biomarkers previously identified as common data elements for symptom science research (BDNF, IL-6, and TNFA), and the polymorphisms in these genes identified through the search are known to impact secretion or level of transcription of these protein biomarkers. Inclusion of genotype data for polymorphisms offers great potential to further advance scientific knowledge of the biological basis of individual symptoms and symptom clusters across studies. Additionally, these polymorphisms have the potential to be used as targets to optimize precision health through the identification of individuals at risk for poor symptom experiences as well as the development of symptom management interventions.


Assuntos
Fenômenos Biológicos/genética , Genótipo , Polimorfismo Genético , Biomarcadores , Fadiga/genética , Humanos , Dor/genética , Transtornos do Sono-Vigília/genética , Síndrome
18.
West J Nurs Res ; 41(11): 1576-1601, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-30539690

RESUMO

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.


Assuntos
Comunicação , Família/psicologia , Predisposição Genética para Doença , Testes Genéticos , Cardiopatias/genética , Estudos Transversais , Cardiopatias/diagnóstico , Humanos , Inquéritos e Questionários
19.
J Genet Couns ; 27(5): 1022-1039, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-29492742

RESUMO

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.


Assuntos
Cardiomiopatias/diagnóstico , Cardiomiopatias/genética , Família , Predisposição Genética para Doença , Adulto , Criança , Testes Genéticos/métodos , Humanos , Estudos Retrospectivos
20.
Qual Health Res ; 28(4): 534-547, 2018 03.
Artigo em Inglês | MEDLINE | ID: mdl-29239272

RESUMO

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.


Assuntos
Diabetes Mellitus Tipo 2/psicologia , Anamnese , Modelos Psicológicos , Adolescente , Adulto , Diabetes Mellitus Tipo 2/etiologia , Diabetes Mellitus Tipo 2/genética , Feminino , Predisposição Genética para Doença/psicologia , Nível de Saúde , Humanos , Entrevistas como Assunto , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Adulto Jovem
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