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Protein-coding genetic variants that strongly affect disease risk can yield relevant clues to disease pathogenesis. Here we report exome-sequencing analyses of 20,791 individuals with type 2 diabetes (T2D) and 24,440 non-diabetic control participants from 5 ancestries. We identify gene-level associations of rare variants (with minor allele frequencies of less than 0.5%) in 4 genes at exome-wide significance, including a series of more than 30 SLC30A8 alleles that conveys protection against T2D, and in 12 gene sets, including those corresponding to T2D drug targets (P = 6.1 × 10-3) and candidate genes from knockout mice (P = 5.2 × 10-3). Within our study, the strongest T2D gene-level signals for rare variants explain at most 25% of the heritability of the strongest common single-variant signals, and the gene-level effect sizes of the rare variants that we observed in established T2D drug targets will require 75,000-185,000 sequenced cases to achieve exome-wide significance. We propose a method to interpret these modest rare-variant associations and to incorporate these associations into future target or gene prioritization efforts.
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Diabetes Mellitus Tipo 2/genética , Secuenciación del Exoma , Exoma/genética , Animales , Estudios de Casos y Controles , Técnicas de Apoyo para la Decisión , Femenino , Frecuencia de los Genes , Estudio de Asociación del Genoma Completo , Humanos , Masculino , Ratones , Ratones NoqueadosRESUMEN
OBJECTIVE: To examine the rate of self-reported vision impairment, eye disease, and eye care utilization among residents of subsidized senior housing (SSH) communities. METHODS: In this cross-sectional, observational study, residents of 14 SSH communities in Jefferson County, AL, USA self-reported their vision status and eye care utilization as part of vision screening events held in their community. RESULTS: Two hundred and thirty-seven residents self-reported their vision status, presence of eye disease, and eye care utilization. A third of participants (33.3%) reported difficulty with distance vision while 38% reported difficulty with near vision. Rates of eye disease among this sample were as follows: 40.3% reported having cataracts, 13.6% reported having glaucoma, 4.2% reported having age-related macular degeneration, and 5.5% reported having diabetic retinopathy. The majority of participants (52.8%) had not been to see an eye care provider within the last year. Persons with vision impairment were less likely to report having seen an eye care provider within the last year than those without impairment (p = .03). CONCLUSION: This study illuminates the low utilization of eye care among socioeconomically disadvantaged older adults residing in SSH, especially among those with vision impairment and eye disease. Vision-related health care is important in maintaining both physical and mental health in older adults.
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Oftalmopatías , Vivienda , Anciano , Alabama , Ceguera , Estudios Transversales , Oftalmopatías/epidemiología , Oftalmopatías/terapia , Humanos , Trastornos de la Visión/epidemiología , Trastornos de la Visión/terapiaRESUMEN
BACKGROUND: Mobile health technologies have emerged as a way to actively engage patients in their healthcare decision-making process. One who is well informed and motivated is thought to engage in self-management activities. Thus, the conceptual framework included "information, motivation, and behavioral change" model, with patient engagement as a mediator in the development and assessment of a mobile health application "HeartMapp" for chronic heart failure (CHF) self-management. PURPOSE: To describe the development and features of the HeartMapp and preliminary assessment of the usability of HeartMapp. METHOD: A descriptive survey design was employed. A total of 37 participants (25 patients with CHF and 12 health care workers) navigated the HeartMapp and completed self-confidence and usability questionnaires. RESULTS: More than half of the patients used mobile phones to obtain health information. Patients reported moderate self-confidence (mean 26.60±12.18) in using HeartMapp. One in five patients reported a lack of confidence in using the chest-worn Bluetooth device. The observational data indicated that all patients completed the task of navigating the HeartMapp with little or no help. The health care members (n=12) demonstrated high confidence in recommending HeartMapp to patients (mean 4.58±0.67) and in utilizing data from HeartMapp for clinical decision making (mean 4.50±0.67). The self-confidence and usability questionnaires showed good reliability in this sample. CONCLUSION: Having access to CHF symptom monitoring and education readily available in a mobile app may motivate individuals to engage in the prescribed self-management skills to ultimately attain desired outcomes, which warrants further exploration.
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Insuficiencia Cardíaca/terapia , Aplicaciones Móviles , Autocuidado , Conductas Relacionadas con la Salud , HumanosRESUMEN
BACKGROUND: Severe irritability in infants with neonatal abstinence syndrome often impacts their ability to feed successfully, which challenges a mother's ability to demonstrate this most basic parenting skill. There is little empiric evidence to guide recommendations for practice in this population. PURPOSE: Describe the infant behaviors that disrupt feeding in infants with neonatal abstinence syndrome. METHODS: A mixed-method approach was used to describe digitally recorded infant feeding behaviors. Qualitative methodology was first used to identify categories of behaviors during the feeding. The categories were used as a coding scheme to identify the temporal sequence, duration, and frequency of behaviors observed during a feeding. RESULTS: The behavior categories that disrupted feeding were identified as fussing, resting, crying, and sleeping/sedated. Infants spent almost twice as much time in fussing as in feeding. The majority of the infants were fussing between 1 and 11 minutes during the feeding, and fussing disrupted feeding in every subject at least once. Feeding behavior occurred only 24% of the time, while fussing and crying occurred 51%. Fussing was the primary transitional behavior from one category to another. Infants who did not complete their feeding had nearly twice the mean number of fussing episodes as those who completed their feeding. IMPLICATIONS FOR PRACTICE: Fussing is a transitional state and appears to provide an opportunity to test interventions that help the mothers re-engage their infants in feeding. The frequency of the behavioral transitions provides a measure of irritability that has not been previously described in this population. IMPLICATIONS FOR RESEARCH: Additional study is needed to evaluate the impact and contributions of maternal behaviors and external variables on infant behavioral transition.
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Conducta Alimentaria/psicología , Conducta del Lactante/psicología , Síndrome de Abstinencia Neonatal/psicología , Problema de Conducta , Adulto , Llanto , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Morfina/administración & dosificación , Trastornos Relacionados con Opioides/psicología , Sueño , Adulto JovenRESUMEN
PURPOSE: The purpose of this study was to explore issues reported by caregivers of Head and Neck cancer (HNC) patients newly admitted to hospice homecare. METHODS: 26 caregivers providing hospice homecare to patients with HNC were induded. Caregiver depressive symptoms, social support and perceived health data were analyzed. RESULTS: The caregivers reported few depressive symptoms, good perceived social support, and good perceived health; however, there was large variation in the group with some individuals having significant problems. DISCUSSION: Caregivers appeared to be doing well physically, emotionally and socially, but baseline data were used, so follow-up data are needed. Further research is warranted. CONCLUSIONS: Family caregivers also are affected by the experience of cancer and may have depressive symptoms needing assessment and management. Hospice patients with HNC have a variety of symptoms specific to their disease and treatment that need assessment and management by their family caregivers. Caregivers of HNC patients in hospice and palliative care need and deserve attention from hospice providers as they care for patients.
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Cuidadores/estadística & datos numéricos , Depresión/epidemiología , Neoplasias de Cabeza y Cuello/enfermería , Cuidados de Enfermería en el Hogar/estadística & datos numéricos , Hospitales para Enfermos Terminales/estadística & datos numéricos , Estrés Psicológico/epidemiología , Adaptación Psicológica , Adulto , Anciano , Anciano de 80 o más Años , Actitud Frente a la Muerte , Cuidadores/psicología , Relaciones Familiares , Femenino , Humanos , Masculino , Persona de Mediana Edad , Apoyo SocialRESUMEN
PURPOSE: To examine whether older adults with vision impairment differentially benefit from cognitive speed of processing training (SPT) relative to healthy older adults. METHODS: Secondary data analyses were conducted from a randomised trial on the effects of SPT among older adults. The effects of vision impairment as indicated by (1) near visual acuity, (2) contrast sensitivity, (3) self-reported cataracts and (4) self-reported other eye conditions (e.g., glaucoma, macular degeneration, diabetic retinopathy, optic neuritis, and retinopathy) among participants randomised to either SPT or a social- and computer-contact control group was assessed. The primary outcome was Useful Field of View Test (UFOV) performance. RESULTS: Mixed repeated-measures ancovas demonstrated that those randomized to SPT experienced greater baseline to post-test improvements in UFOV performance relative to controls (p's < 0.001), regardless of impairments in near visual acuity, contrast sensitivity or presence of cataracts. Those with other eye conditions significantly benefitted from training (p = 0.044), but to a lesser degree than those without such conditions. Covariates included age and baseline measures of balance and depressive symptoms, which were significantly correlated with baseline UFOV performance. CONCLUSIONS: Among a community-based sample of older adults with and without visual impairment and eye disease, the SPT intervention was effective in enhancing participants' UFOV performance. The analyses presented here indicate the potential for SPT to enhance UFOV performance among a community-based sample of older adults with visual impairment and potentially for some with self-reported eye disease; further research to explore this area is warranted, particularly to determine the effects of eye diseases on SPT benefits.
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Terapia Cognitivo-Conductual/métodos , Trastornos de la Visión/terapia , Anciano , Anciano de 80 o más Años , Análisis de Varianza , Estudios de Casos y Controles , Sensibilidad de Contraste/fisiología , Oftalmopatías/fisiopatología , Oftalmopatías/terapia , Femenino , Humanos , Masculino , Trastornos de la Visión/fisiopatología , Agudeza Visual/fisiología , Campos Visuales/fisiologíaRESUMEN
BACKGROUND: Retinal photography was performed in pregnancy and postpartum in pregnant Hispanic women with latent Toxoplasma gondii (TG) infection in order to screen for characteristic retinal lesions or the particular scars found in people with active T. gondii infection. A comparison group of TG negative women was included in the study but they did not have retinal photography. OBJECTIVE: The goal of the parent study was to assess for adverse pregnancy events and evidence for parasite reactivation in TG positive (TG + ) women, through examination of the eyes for characteristic lesions. Retinal photography, usually at prenatal visits 2 (17 +/- 3.35 weeks) and 3 (26.3+/-1.75) weeks, was done on TG + women. Fifty-six of these women also (43 %) had retinal photography at the postpartum visit. Health and demographic data were obtained at the first prenatal visit for all women. STUDY DESIGN: From the 690 recruited at the first prenatal visit, 128 TG- women and 158 TG + women were enrolled in a prospective study through pregnancy and the postpartum. All TG- women (n = 532) provided data at the first prenatal visit and throughout their pregnancy and birth through the EHR. This allowed comparison of health and outcome data for the TG + compared to a larger number of TG- Hispanic pregnant women. RESULTS: While there was no evidence of ocular toxoplasmosis during pregnancy, there was a surprisingly large number (42 %) of TG + women with diabetic retinopathy (DR). We also observed that TG + women had a 20 % incidence of gestational diabetes mellitus (GDM) compared to 11.3 % in the TG- women (p = 0.01). At postpartum (mean 5.6 weeks), 23 of 30 women with pregnancy DR showed no DR in the postpartum. CONCLUSIONS: No characteristic T. gondii lesions were discovered. Retinal photography serendipitously revealed DR in these T. gondii positive women. It was also found that latent TG infection was associated with increased incidence of GDM. Hispanic pregnant women's increased risk for latent TG infection, GDM and DR are underappreciated. Retinal photography may need to be considered an innovative approach to screening.
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Diabetes Gestacional , Retinopatía Diabética , Toxoplasma , Toxoplasmosis , Femenino , Embarazo , Humanos , Retinopatía Diabética/epidemiología , Estudios Prospectivos , Toxoplasmosis/complicaciones , Toxoplasmosis/epidemiología , Hispánicos o LatinosRESUMEN
Data within biobanks capture broad yet detailed indices of human variation, but biobank-wide insights can be difficult to extract due to complexity and scale. Here, using large-scale factor analysis, we distill hundreds of variables (diagnoses, assessments and survey items) into 35 latent constructs, using data from unrelated individuals with predominantly estimated European genetic ancestry in UK Biobank. These factors recapitulate known disease classifications, disentangle elements of socioeconomic status, highlight the relevance of psychiatric constructs to health and improve measurement of pro-health behaviours. We go on to demonstrate the power of this approach to clarify genetic signal, enhance discovery and identify associations between underlying phenotypic structure and health outcomes. In building a deeper understanding of ways in which constructs such as socioeconomic status, trauma, or physical activity are structured in the dataset, we emphasize the importance of considering the interwoven nature of the human phenome when evaluating public health patterns.
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BACKGROUND: Bronchiolitis due to respiratory syncytial virus (RSV) is the leading cause of hospitalization among American infants. The overall burden of RSV among infants has been historically under-estimated due to variable testing practices, particularly in the outpatient setting. Universal masking and social distancing implemented during the coronavirus disease 2019 (COVID-19) pandemic altered RSV seasonality, however potential consequences on RSV testing practices across different healthcare settings and sociodemographic groups have not been described. Variable testing practices could also affect accurate assessment of the effects of two recently approved RSV preventative agents targeting infants. METHODS: Utilizing real-time clinical and viral surveillance, we examined RSV testing practices among infants with bronchiolitis within four United States healthcare systems across different healthcare settings and sociodemographic groups pre- and post-COVID-19. RESULTS: RSV testing among infants with bronchiolitis increased since 2015 within each healthcare system across all healthcare settings and sociodemographic groups, with a more dramatic increase since the COVID-19 pandemic. Outpatient testing remained disproportionately low compared to hospital-based testing, although there were no major differences in testing frequency among sociodemographic groups in either setting. CONCLUSIONS: Although RSV testing increased among infants with bronchiolitis, relatively low outpatient testing rates remain a key barrier to accurate RSV surveillance.
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Bronquiolitis , COVID-19 , Infecciones por Virus Sincitial Respiratorio , SARS-CoV-2 , Humanos , Lactante , Infecciones por Virus Sincitial Respiratorio/diagnóstico , Infecciones por Virus Sincitial Respiratorio/epidemiología , Estados Unidos/epidemiología , COVID-19/epidemiología , COVID-19/diagnóstico , Femenino , Masculino , Bronquiolitis/diagnóstico , Bronquiolitis/epidemiología , Hospitalización/estadística & datos numéricos , Virus Sincitial Respiratorio Humano/aislamiento & purificación , Recién NacidoRESUMEN
BACKGROUND: Respiratory syncytial virus (RSV) is a substantial cause of infant morbidity and mortality due to seasonal peaks of bronchiolitis across the United States. Clinical and viral surveillance plays a pivotal role in helping hospital systems prepare for expected surges in RSV bronchiolitis. Existing surveillance efforts have shown a geographic pattern of RSV positivity across the United States, with cases typically starting in the southeast and spreading north and west. Public health measures implemented due to the COVID-19 pandemic disrupted viral transmission across the nation and altered the expected seasonality of RSV. The impact of these changes on the geographic progression of infant RSV bronchiolitis across the United States has not been described. METHODS: Here, we used clinical and viral surveillance data from four health care systems located in different regions of the United States to describe the geographic progression of infant RSV bronchiolitis across the country from 2015 to 2023. RESULTS: Prior to widespread circulation of SARS-CoV-2, infant RSV bronchiolitis followed an established geographic pattern associated with seasonal epidemics originating in Florida and spreading north (North Carolina and New York) and later westward (Nevada). Although public health and social measures implemented during the COVID-19 pandemic disrupted the seasonality of RSV disease, infant RSV bronchiolitis epidemics progressed across the nation in a pattern identical to the prepandemic era. CONCLUSIONS: Our findings highlight the importance of ongoing clinical and viral surveillance to optimally track the onset of RSV epidemics and allow health care systems to prepare for expected RSV bronchiolitis surges.
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Bronquiolitis , COVID-19 , Infecciones por Virus Sincitial Respiratorio , Humanos , COVID-19/epidemiología , COVID-19/transmisión , Estados Unidos/epidemiología , Lactante , Infecciones por Virus Sincitial Respiratorio/epidemiología , Bronquiolitis/epidemiología , Bronquiolitis/virología , Virus Sincitial Respiratorio Humano/aislamiento & purificación , Estaciones del Año , SARS-CoV-2 , Recién Nacido , Femenino , MasculinoRESUMEN
Gestational diabetes mellitus (GDM) is a common metabolic disorder affecting more than 16 million pregnancies annually worldwide1,2. GDM is related to an increased lifetime risk of type 2 diabetes (T2D)1-3, with over a third of women developing T2D within 15 years of their GDM diagnosis. The diseases are hypothesized to share a genetic predisposition1-7, but few studies have sought to uncover the genetic underpinnings of GDM. Most studies have evaluated the impact of T2D loci only8-10, and the three prior genome-wide association studies of GDM11-13 have identified only five loci, limiting the power to assess to what extent variants or biological pathways are specific to GDM. We conducted the largest genome-wide association study of GDM to date in 12,332 cases and 131,109 parous female controls in the FinnGen study and identified 13 GDM-associated loci, including nine new loci. Genetic features distinct from T2D were identified both at the locus and genomic scale. Our results suggest that the genetics of GDM risk falls into the following two distinct categories: one part conventional T2D polygenic risk and one part predominantly influencing mechanisms disrupted in pregnancy. Loci with GDM-predominant effects map to genes related to islet cells, central glucose homeostasis, steroidogenesis and placental expression.
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Diabetes Mellitus Tipo 2 , Diabetes Gestacional , Islotes Pancreáticos , Embarazo , Femenino , Humanos , Diabetes Mellitus Tipo 2/genética , Diabetes Gestacional/genética , Estudio de Asociación del Genoma Completo , PlacentaRESUMEN
BACKGROUND: There has been a concerning surge in maternal mortality among Hispanic women in recent years. Compromised mental health is present in nearly half of all maternal deaths, and risk factors include poor social support and depression. OBJECTIVE: Among Hispanic women who were born in the USA versus those not born in the USA, we sought to describe and compare social determinants of health and maternal psychological outcomes. METHODS: Hispanic pregnant women (n = 579) were recruited from two clinics in Tampa, FL, and completed various questionnaires related to social determinants of health, depression, stress, and social support. STATISTICAL ANALYSIS: Descriptive statistics, t-tests, and chi-square analyses were used to compare relationships between maternal nativity and subsequent psychosocial outcomes. Pearson correlations were used to explore associations between variables. RESULTS: Hispanic pregnant women who were not born in the USA had lower incomes (χ2 = 5.68, p = 0.018, df = 1), were more likely to be unemployed (χ2 = 8.12, p = 0.004, df = 1), and were more likely to be married (χ2 = 4.79, p = 0.029, df = 1) when compared with those born in the USA. Those not born in the USA reported lower social support (t = 3.92, p<0.001), specifically the tangible (t = 4.18, p < 0.001) and emotional support subscales (t = 4.4, p<0.001). When compared with those born in the USA, foreign-born Hispanic women reported less stress (t = 3.23, p = 0.001) and depression (t = 3.3, p = 0.002). CONCLUSION: Pregnant Hispanic women not born in the USA are at increased risk for suboptimal social determinants of health, including less social support. US-born women were more stressed and depressed and had higher BMIs.
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Introduction: We investigated cross-sectional relationships between arthritis or joint-related pain intensity and subjective cognitive decline in middle-aged and older adults. Methods: The sample consisted of 30,150 adults ⩾age 45 years with self-reported arthritis or joint conditions who completed key variables in the 2015 wave of the Behavioral Risk Factor Surveillance System. Results: Using weighted data, 94.2% of the sample reported experiencing joint pain in the last month (35.9% reported moderate pain and 30.6% reported severe pain) and 17.3% reported subjective cognitive decline. In logistic regression models, pain intensity was associated with significantly higher odds of reporting subjective cognitive decline, after controlling for age, race/ethnicity, sex, education, household income, cardiovascular health, mental health, and history of stroke. Those with moderate pain were two times as likely to report subjective cognitive decline and those with severe pain were more than three times as likely to report subjective cognitive decline relative to those without pain, adjusting for covariates. Conclusion: The results of this study highlight a significant relationship between pain intensity and subjective cognitive decline in middle-aged and older adults with arthritis or joint conditions typically associated with joint pain. Moderate and severe joint pain is significantly associated with higher risk of subjective cognitive decline, after controlling for personal and health characteristics. Future studies with more comprehensive assessments of pain and cognition are warranted to further elucidate these relationships and their underlying mechanisms.
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With decades of electronic health records linked to genetic data, large biobanks provide unprecedented opportunities for systematically understanding the genetics of the natural history of complex diseases. Genome-wide survival association analysis can identify genetic variants associated with ages of onset, disease progression and lifespan. We propose an efficient and accurate frailty model approach for genome-wide survival association analysis of censored time-to-event (TTE) phenotypes by accounting for both population structure and relatedness. Our method utilizes state-of-the-art optimization strategies to reduce the computational cost. The saddlepoint approximation is used to allow for analysis of heavily censored phenotypes (>90%) and low frequency variants (down to minor allele count 20). We demonstrate the performance of our method through extensive simulation studies and analysis of five TTE phenotypes, including lifespan, with heavy censoring rates (90.9% to 99.8%) on ~400,000 UK Biobank participants with white British ancestry and ~180,000 individuals in FinnGen. We further analyzed 871 TTE phenotypes in the UK Biobank and presented the genome-wide scale phenome-wide association results with the PheWeb browser.
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Bancos de Muestras Biológicas , Fragilidad , Fragilidad/genética , Estudio de Asociación del Genoma Completo/métodos , Humanos , Fenómica , FenotipoRESUMEN
PURPOSE: To examine the association between age-related eye disease (ARED), visual impairment, and health-related quality of life (HRQOL). METHODS: We used data from the 2006 and 2008 Behavioral Risk Factor Surveillance System to examine self-reported visual impairment and two HRQOL domains-physical impairment (including poor general health, physical unhealthy days, activity-limitation days, and disability) and mental distress (including mental unhealthy days, life dissatisfaction, major depression, lifetime depression, and anxiety) for people aged 65 years or older, by ARED status. RESULTS: People with any ARED were more likely than those without to report visual impairment as well as physical impairment and mental distress. The prevalence of visual impairment (P trend <0.001) and physical impairment (P trend <0.001) increased with increasing number of eye diseases after controlling for all covariates. There was no significant linear trend, however, in mental distress among people with one or more eye diseases. CONCLUSION: ARED was found to be associated with visual impairment and poorer HRQOL. Increasing numbers of AREDs were associated with increased levels of visual impairment and physical impairment, but were not associated with levels of mental distress.
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Oftalmopatías/epidemiología , Calidad de Vida , Trastornos de la Visión/epidemiología , Adulto , Anciano , Catarata/epidemiología , Comorbilidad , Trastorno Depresivo/epidemiología , Retinopatía Diabética/epidemiología , Femenino , Estado de Salud , Humanos , Modelos Logísticos , Masculino , Satisfacción Personal , Estrés Psicológico/epidemiologíaRESUMEN
Background: Molecular testing (MT) refines risk stratification for thyroid nodules that are indeterminate for cancer by fine needle aspiration (FNA) cytology. Criteria for selecting nodules for MT vary and remain largely untested, raising questions about the best strategy for maximizing the usefulness of MT while minimizing the harms of overtesting. We used a unique data set to examine the effects of repeat FNA cytology-based criteria for MT on management decisions and nodule outcomes. Methods: This was a study of adults (age 25-90 years; 281 women and 72 men) with cytologically indeterminate (Bethesda III/IV) thyroid nodules who underwent repeat FNA biopsy and Afirma Gene Expression Classifier (GEC) testing (N = 363 nodules from 353 patients) between June 2013 and October 2017 at a single institution, with follow-up data collected until December 2019. Subgroup analysis was performed based on classification of repeat FNA cytology. Outcomes of GEC testing, clinical/sonographic surveillance of unresected nodules, and histopathologic diagnoses of thyroidectomies were compared between three testing approaches: (i) Reflex (MT sent on the basis of the initial Bethesda III/IV FNA), (ii) SemiRestrictive (MT sent if repeat FNA is Bethesda I-IV), and (iii) Restrictive (MT sent only if repeat FNA is Bethesda III/IV) testing approaches. Results: Restricting MT to nodules that remain Bethesda III/IV on repeat FNA would have missed 4 low-risk cancers and 3 noninvasive follicular thyroid neoplasms with papillary-like nuclear features (NIFTP) (collectively 2% of the test population) but would have avoided diagnostic surgery for 42 benign nodules (12% of the test population). The Restrictive testing strategy was more specific (delta 0.126 confidence interval [CI 0.093 to 0.159] and 0.129 [CI 0.097 to 0.161], respectively) but less sensitive (delta -0.339 [CI -0.424 to -0.253] and -0.340 [CI -0.425 to -0.255], respectively) than the Reflex and SemiRestrictive approaches for detecting NIFTP or cancer. Conclusions: Repeat FNA cytology can guide the selection of cytologically indeterminate thyroid nodules that warrant MT. The Restrictive model of performing Afirma GEC only on nodules with two separate biopsies showing Bethesda III/IV cytology would reduce the rate of diagnostic surgery for histologically benign nodules while missing only rare low-risk tumors. Given the low but nontrivial risks of thyroidectomy, the higher specificity of the Restrictive testing approach disproportionately outweighs the potential harms.
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Biopsia con Aguja Fina/métodos , Regulación Neoplásica de la Expresión Génica , Nódulo Tiroideo/genética , Adenocarcinoma Folicular/diagnóstico , Adenocarcinoma Folicular/genética , Adenocarcinoma Folicular/patología , Adenocarcinoma Papilar/diagnóstico , Adenocarcinoma Papilar/genética , Adenocarcinoma Papilar/patología , Adulto , Anciano , Anciano de 80 o más Años , Toma de Decisiones Clínicas , Citodiagnóstico , Femenino , Pruebas Genéticas , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Medición de Riesgo , Nódulo Tiroideo/diagnóstico , Nódulo Tiroideo/patología , Resultado del TratamientoRESUMEN
BACKGROUND: Analgesic trials have been advocated as a means to reduce pain in persons with dementia (PWDs), but few systematic studies have been reported. OBJECTIVES: The aims of this study were to assess the feasibility of conducting a repeated-measures study of pain in PWDs and to investigate the effect of the scheduled dosing of acetaminophen in reducing observable pain behaviors in community-dwelling PWDs. METHODS: A within-subjects ABAB withdrawal design was utilized in this pilot study, with data collected daily for 24 days. Two baseline (nontreatment) phases were alternated with two treatment phases to examine the effects of scheduled extended-release acetaminophen (1.3 g every 8 hr) in reducing pain-related behaviors. The sample consisted of 3 participants (2 women; mean age = 85 years; mean Mini-Mental State Examination score = 11.7) with osteoarthritis. Pain behaviors were measured during a daily, videotaped activity-based protocol designed to elicit pain. RESULTS: The results indicate that it is possible to conduct this type of intensive, daily pain investigation in community-dwelling older adults with moderate to severe dementia. Behavioral indicators of pain varied daily and in response to treatment. During treatment phases, pain behaviors decreased in both frequency and duration relative to the control and baseline phases and increased when treatment was withdrawn. DISCUSSION: Acetaminophen use reduced pain behaviors associated with musculoskeletal pain in this sample of PWDs. This provides preliminary evidence that acetaminophen is an effective pain reliever for this population. In addition, the study supports the use of a within-subjects design to examine daily variability in pain behaviors and to demonstrate treatment effects in PWDs.
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Acetaminofén/uso terapéutico , Analgésicos no Narcóticos/uso terapéutico , Demencia/complicaciones , Comunicación no Verbal , Dolor/prevención & control , Anciano de 80 o más Años , Investigación en Enfermería Clínica , Recolección de Datos , Preparaciones de Acción Retardada , Esquema de Medicación , Estudios de Factibilidad , Femenino , Humanos , Masculino , Evaluación en Enfermería , Osteoartritis/complicaciones , Dolor/diagnóstico , Dolor/etiología , Dolor/psicología , Dimensión del Dolor , Proyectos Piloto , Proyectos de Investigación , Método Simple Ciego , Resultado del Tratamiento , Grabación de Cinta de VideoRESUMEN
BACKGROUND: The Institute of Federal Health Care recently published an executive summary from a round table discussion indicating that active duty and retired female military personnel are at high risk for adverse health outcomes unique to military service including complications related to post-traumatic stress disorder (PTSD), unreported sexual trauma, and musculoskeletal problems. In 2008, the Institute of Medicine began to review, evaluate, and summarize the literature on health outcomes in Gulf War-deployed and found sufficient evidence of a causal relationship with PTSD and suggestive evidence of an association with fibromyalgia (FM). This study examines the prevalence and impact of FM in women veterans and to explore the association between other comorbidities to improve risk differentiation for treatment and improve outcomes. METHODS: This study is designed as a nested, cross-sectional study within a larger project funded by the U.S. Army at the University of South Florida, College of Nursing entitled "Nursing Health Initiative for Empowering Women Veterans." A sample of 76 participants completed a battery of study instruments related to physical and psychological stressors. FINDINGS: Over half of the sample had a positive FM screening score (56.68%) although only 14.42% were deployed to the Middle East. More than 70% of participants reported harassment in life in the military and 32.9% reported sexual assault while in the military. Results of the 1-way analysis of variances find that there was a significant association of FM with the psychological symptoms of stress, depression, and PTSD. There was a significant association of FM with quality of life and sleep difficulty. DISCUSSION, IMPACT, AND RECOMMENDATIONS: The results from this pilot study suggest there is a significant relationship between FM and the psychological symptoms of depression and PTSD. Nearly two-thirds of these women screened positive for depressive symptoms and just over one-quarter of participants had symptoms indicative of PTSD. Only a small proportion of women veterans in this study were deployed (14.42%) and this suggests that a trigger or risk factor other than deployment or combat may contribute to the development of FM and mental health symptomology. To focus on the complex interrelationships between pain, fatigue, sleep, and depression, a follow-up study with a larger sample powered for more complex statistical analyses is warranted. Additional analyses in this study reveal that over half of women veterans who reported military sexual trauma (MST) while in the military, screened positive for FM. Although our analyses did not reveal there to be a significant effect between FM and MST, it should be considered as a potential risk factor for FM as MST can be a precursor for PTSD. Women veterans who present with FM should be screened for MST as sexual trauma may not be disclosed. Understanding how many women veterans are affected with FM and the relationship with PTSD, MST, stress, depression, and sleep can improve screening and treatment to improve quality of life. This will also inform decision-making about how best to design and implement interventions, programs, and policies.
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Fibromialgia/complicaciones , Calidad de Vida/psicología , Veteranos/psicología , Adulto , Anciano , Estudios Transversales , Depresión/diagnóstico , Depresión/psicología , Femenino , Fibromialgia/epidemiología , Fibromialgia/psicología , Humanos , Persona de Mediana Edad , Dolor/etiología , Proyectos Piloto , Prevalencia , Psicometría/instrumentación , Psicometría/métodos , Factores de Riesgo , Acoso Sexual/psicología , Trastornos por Estrés Postraumático/diagnóstico , Trastornos por Estrés Postraumático/psicología , Encuestas y Cuestionarios , Estados Unidos/epidemiología , United States Department of Veterans Affairs/organización & administraciónRESUMEN
OBJECTIVE: We assessed the sensitivity and specificity of 8 electronic health record (EHR)-based phenotypes for diabetes mellitus against gold-standard American Diabetes Association (ADA) diagnostic criteria via chart review by clinical experts. MATERIALS AND METHODS: We identified EHR-based diabetes phenotype definitions that were developed for various purposes by a variety of users, including academic medical centers, Medicare, the New York City Health Department, and pharmacy benefit managers. We applied these definitions to a sample of 173 503 patients with records in the Duke Health System Enterprise Data Warehouse and at least 1 visit over a 5-year period (2007-2011). Of these patients, 22 679 (13%) met the criteria of 1 or more of the selected diabetes phenotype definitions. A statistically balanced sample of these patients was selected for chart review by clinical experts to determine the presence or absence of type 2 diabetes in the sample. RESULTS: The sensitivity (62-94%) and specificity (95-99%) of EHR-based type 2 diabetes phenotypes (compared with the gold standard ADA criteria via chart review) varied depending on the component criteria and timing of observations and measurements. DISCUSSION AND CONCLUSIONS: Researchers using EHR-based phenotype definitions should clearly specify the characteristics that comprise the definition, variations of ADA criteria, and how different phenotype definitions and components impact the patient populations retrieved and the intended application. Careful attention to phenotype definitions is critical if the promise of leveraging EHR data to improve individual and population health is to be fulfilled.