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1.
Arch Osteoporos ; 17(1): 76, 2022 05 06.
Artículo en Inglés | MEDLINE | ID: mdl-35523903

RESUMEN

This detailed 11-year longitudinal analysis calculated the public health cost of managing refractures in people aged ≥ 50 years in Australia's most populous state. It provides current and projected statewide health system costs associated with managing osteoporosis and provides a foundation to evaluate a novel statewide model of fracture prevention. PURPOSE: The purpose of this longitudinal analysis was to calculate current and projected refracture rates and associated public hospital utilisation and costs in New South Wales (NSW), Australia. These results will be used to inform scaled implementation and evaluation of a statewide Osteoporotic Refracture Prevention (ORP) model of care. METHODS: Linked administrative data (inpatient admissions, outpatient attendances, Emergency Department presentations, deaths, cost) were used to calculate annual refracture rates and refracture-related service utilisation between 2007 and 2018 and healthcare costs between 2008 and 2019. Projections for the next decade were made using 'business-as-usual' modelling. RESULTS: Between 2007 and 2018, 388,743 people aged ≥ 50 years experienced an index fracture and 81,601 had a refracture. Refracture was more common in older people (rising from a cumulative refracture rate at 5 years of 14% in those aged 50-64 years, to 44% in those aged > 90 years), women with a major index fracture (5-year cumulative refracture rate of 26% in females, compared to 19% for males) or minimal trauma index fracture and those with an osteoporosis diagnosis (5-year cumulative refracture rate of 36% and 22%, respectively in those with and without an osteoporosis diagnosis). Refractures increased from 8774 in 2008 to 14,323 in 2018. The annual cost of refracture to NSW Health increased from AU$130 million in 2009 to AU$194 million in 2019. It is projected that, over the next decade, if nothing changes, 292,537 refracture-related hospital admissions and Emergency Department presentations and 570,000 outpatient attendances will occur, at an estimated total cost to NSW Health of AU$2.4 billion. CONCLUSION: This analysis provides a detailed picture of refractures and associated projected service utilisation and costs over the next decade in Australia's most populous state. Understanding the burden of refracture provides a foundation for evaluation of a novel statewide ORP model of care to prevent refractures in people aged ≥ 50 years.


Asunto(s)
Osteoporosis , Anciano , Australia/epidemiología , Servicio de Urgencia en Hospital , Femenino , Hospitalización , Hospitales Públicos , Humanos , Masculino , Persona de Mediana Edad , Osteoporosis/complicaciones
2.
J Child Lang ; 49(2): 382-396, 2022 03.
Artículo en Inglés | MEDLINE | ID: mdl-34176538

RESUMEN

Iconic words imitate their meanings. Previous work has demonstrated that iconic words are more common in infants' early speech, and in adults' child-directed speech (e.g., Perry et al., 2015; 2018). This is consistent with the proposal that iconicity provides a benefit to word learning. Here we explored iconicity in four diverse language development datasets: a production corpus for infants and preschoolers (MacWhinney, 2000), comprehension data for school-aged children to young adults (Dale & O'Rourke, 1981), word frequency norms from educational texts for school aged children to young adults (Zeno et al., 1995), and a database of parent-reported infant word production (Frank et al., 2017). In all four analyses, we found that iconic words were more common at younger ages. We also explored how this relationship differed by syntactic class, finding only modest evidence for differences. Overall, the results suggest that, beyond infancy, iconicity is an important factor in language acquisition.


Asunto(s)
Desarrollo del Lenguaje , Habla , Niño , Comprensión , Humanos , Lactante , Aprendizaje Verbal
3.
Artículo en Inglés | MEDLINE | ID: mdl-34501715

RESUMEN

BACKGROUND: Early sexual debut among American Indian and Alaska Native (AI/AN) adolescents has been associated with an increased risk of teenage pregnancies and sexually transmitted infections, along with an increased risk of having multiple lifetime sexual partners, and engaging in greater frequency of sex, substance abuse, and lack of condom use. A major protective factor against early sexual debut among AI/AN youth is the familial system. Interventions aiming to improve parent-child communication and parental warmth toward adolescent sexual health topics were reported to contribute to positive youth sexual health outcomes, specifically among minority youth. Healthy Native Youth thus developed the Talking is Power text-messaging service to guide parents and caring adults on how to initiate sensitive topics with youth and how to support them in making informed decisions regarding sex and healthy relationships. METHODS: Descriptive statistics were used to demonstrate website analytics and reach per views and time spent on each page, and for displaying participants' responses to the questions on the usability of the Talking is Power text-messaging series. To assess the perceived impact of the series, the differences in mean percentage scores of the question assessing parental comfort in engaging in sexual health topics with youth between pre- and post-intervention were calculated using two-sample t-tests of equal variances. Descriptive content analysis was adopted to highlight emerging themes from open-ended items. RESULTS: When looking at reach, 862 entrances were recorded during the specified time period (5.8% of total entrances to HNY website), while the bounce rate was set at 73.1% (22.6% greater than the industry average), and the exit rate was 54.3% (15.2% greater than the industry average). Series usability was highly ranked on the 5-Likert scale in terms of signing up for a similar series on a different topic, quality of images, texts, and links, relating to prompts, and change in sparking sensitive conversations with youth. High likelihood of recommending the series to a friend or colleague was also reported by participants (0-10). No significant difference in parental comfort levels was reported (p = 0.78 > 0.05). Main themes provided suggestions for improving the series mode of delivery, while others included positive feedback about the material, with the possibility of expanding the series to other adolescent health topics. CONCLUSION: Lessons learned during the design, dissemination, and evaluation of the resource's usability, reach, and perceived impact may be of interest to other Indigenous communities who are in the process of adapting and/or implementing similar approaches.


Asunto(s)
Salud Sexual , Adolescente , Adulto , Comunicación , Femenino , Humanos , Internet , Embarazo , Conducta Sexual , Indio Americano o Nativo de Alaska
4.
Sci Total Environ ; 787: 147552, 2021 Sep 15.
Artículo en Inglés | MEDLINE | ID: mdl-34004537

RESUMEN

Peatlands play an important role in modulating the climate, mainly through sequestration of carbon dioxide into peat carbon, which depends on the availability of reactive nitrogen (Nr) to mosses. Atmospheric Nr deposition in the UK has been above the critical load for functional and structural changes to peatland mosses, thus threatening to accelerate their succession by vascular plants and increasing the possibility of Nr export to downstream ecosystems. The N balance of peatlands has received comparatively little attention, mainly due to the difficulty in measuring gaseous N losses as well as the Nr inputs due to biological nitrogen fixation (BNF). In this study we have estimated the mean annual N balance of an ombrotrophic bog (Migneint, North Wales) by measuring in situ N2 + N2O gaseous fluxes and also BNF in peat and mosses. Fluvial N export was monitored through a continuous record of DON flux, while atmospheric N deposition was modelled on a 5 × 5 km grid. The mean annual N mass balance was slightly positive (0.7 ± 4.1 kg N ha-1 y-1) and varied interannually indicating the fragile status of this bog ecosystem that has reached N saturation and is prone to becoming a net N source. Gaseous N losses were a major N output term accounting for 70% of the N inputs, mainly in the form of the inert N2 gas, thus providing partial mitigation to the adverse effects of chronic Nr enrichment. BNF was suppressed by 69%, compared to rates in pristine bogs, but was still active, contributing ~2% of the N inputs. The long-term peat N storage rate (8.4 ± 0.8 kg N ha-1 y-1) cannot be met by the measured N mass balance, showing that the bog catchment is losing more N than it can store due its saturated status.

5.
Prev Chronic Dis ; 17: E125, 2020 10 15.
Artículo en Inglés | MEDLINE | ID: mdl-33059798

RESUMEN

INTRODUCTION: We examined health insurance benefits, workplace policies, and health promotion programs in small to midsize businesses in Alaska whose workforces were at least 20% Alaska Native. Participating businesses were enrolled in a randomized trial to improve health promotion efforts. METHODS: Twenty-six Alaska businesses completed from January 2009 through October 2010 a 30-item survey on health benefits, policies, and programs in the workplace. We generated frequency statistics to describe overall insurance coverage, and to detail insurance coverage, company policies, and workplace programs in 3 domains: tobacco use, physical activity and nutrition, and disease screening and management. RESULTS: Businesses varied in the number of employees (mean, 250; median, 121; range, 41-1,200). Most businesses offered at least partial health insurance for full-time employees and their dependents. Businesses completely banned tobacco in the workplace, and insurance coverage for tobacco cessation was limited. Eighteen had onsite food vendors, yet fewer than 6 businesses offered healthy food options, and even fewer offered them at competitive prices. Cancer screening and treatment were the health benefits most commonly covered by insurance. CONCLUSION: Although insurance coverage and workplace policies for chronic disease screening and management were widely available, significant opportunities remain for Alaska businesses to collaborate with federal, state, and community organizations on health promotion efforts to reduce the risk of chronic illness among their employees.


Asunto(s)
Ejercicio Físico , Planes de Asistencia Médica para Empleados/estadística & datos numéricos , Promoción de la Salud/estadística & datos numéricos , Lugar de Trabajo/organización & administración , Alaska , Enfermedad Crónica/prevención & control , Humanos , Cobertura del Seguro/estadística & datos numéricos , Medicina Preventiva/estadística & datos numéricos , Encuestas y Cuestionarios , Lugar de Trabajo/estadística & datos numéricos
6.
Rural Remote Health ; 20(3): 5946, 2020 07.
Artículo en Inglés | MEDLINE | ID: mdl-32660254

RESUMEN

CONTEXT: The vast, rugged geography and dispersed population of Alaska pose challenges for managing chronic disease risk. Creative, population-based approaches are essential to address the region's health needs. The American Cancer Society developed Workplace Solutions, a series of evidence-based interventions, to improve health promotion and reduce chronic disease risk in workplace settings. ISSUES: To adapt Workplace Solutions for implementation in eligible Alaskan businesses, research teams with the University of Washington and the Alaska Native Tribal Health Consortium collaborated to address various geographic, intervention, and workplace barriers. Terrain, weather, and hunting seasons were frequent geographic challenges faced over the entire course of the pilot study. Coordinating several research review boards at the university, workplace, and regional tribal health organizations; study staff turnover during the entire course of the study; and difficulties obtaining cost-effective intervention options were common intervention barriers. Few workplaces meeting initial study eligibility criteria, turnover of business contacts, and a downturn in the state economy were all significant workplace barriers. LESSONS LEARNED: Flexibility, organization, responsiveness, communication, and collaboration between research staff and businesses were routinely required to problem-solve these geographic, intervention, and workplace barriers.


Asunto(s)
Promoción de la Salud/organización & administración , Enfermedades Profesionales/prevención & control , Servicios de Salud del Trabajador/organización & administración , Lugar de Trabajo/organización & administración , Alaska , Estado de Salud , Humanos , Salud Laboral/estadística & datos numéricos , Política Organizacional , Proyectos Piloto
7.
Front Public Health ; 6: 225, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-30175091

RESUMEN

Tribal health educators across the United States have found it challenging to locate engaging, culturally-relevant sexual health curricula for American Indian and Alaska Native (AI/AN) youth. Healthy Native Youth is a new online resource that provides a "one-stop-shop" for tribal health advocates to access age-appropriate curricula. The site was designed by a team of advisers representing a diverse group of tribal communities, using a collaborative planning process. The website content and navigation was then refined through usability testing with the target audience. The portal allows users to filter and compare curricula on multiple dimensions, including: age, delivery setting, duration, cost, and evidence of effectiveness, to determine best-fit. It includes all materials needed for implementation free-of-charge, including: facilitator training tools, lesson plans, materials to support participant marketing and recruitment, information about each program's cultural relevance, evaluation methods and findings, and references to publications and reports. The website currently includes mCircle of Life, Native It's Your Game, Native STAND, Native VOICES, and Safe in the Village, among others. Since its launch in August 2016, the site has had over 31,000 page views in all 50 States. The Healthy Native Youth portal provides educators in rural communities a promising new tool to support the dissemination and implementation of evidence-based health curricula in geographically-disbursed AI/AN communities. Lessons learned during the design and dissemination of the Healthy Native Youth website may be of value to other Indigenous populations interested in our approach and our findings.

8.
J Environ Manage ; 188: 278-286, 2017 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-27992818

RESUMEN

This study assessed the short-term impacts of ditch blocking on water table depth and vegetation community structure in a historically drained blanket bog. A chronosequence approach was used to compare vegetation near ditches blocked 5 years, 4 years and 1 year prior to the study with vegetation near unblocked ditches. Plots adjacent to and 3 m away from 70 ditches within an area of blanket bog were assessed for floristic composition, aeration depth using steel bars, and topography using LiDAR data. No changes in aeration depth or vegetation parameters were detected as a function of ditch-blocking, time since blocking, or distance from the ditch, with the exception of non-Sphagnum bryophytes which had lower cover in quadrats adjacent to ditches that had been blocked for 5 years. Analysis of LiDAR data and the observed proximity of the water table to the peat surface led us to conclude that the subdued ecosystem responses to ditch-blocking were the result of historical peat subsidence within a 4-5 m zone either side of each ditch, which had effectively lowered the peat surface to the new, ditch-influenced water table. We estimate that this process led to the loss of around 500,000 m3 peat within the 38 km2 study area following drainage, due to a combination of oxidation and compaction. Assuming that 50% of the volume loss was due to oxidation, this amounts to a carbon loss of 11,000 Mg C over this area, i.e. 3 Mg C ha-1. The apparent 'self-rewetting' of blanket bogs in the decades following drainage has implications for their restoration as it suggests that there may not be large quantities of dry peat left to rewet, and that there is a risk of inundation (potentially leading to high methane emissions) along subsided ditch lines. Many peatland processes are likely to be maintained in drained blanket bog, including support of typical peatland vegetation, but infilling of lost peat and recovery of original C stocks are likely to take longer than is generally anticipated.


Asunto(s)
Agua Subterránea , Suelo , Humedales , Carbono , Metano
9.
J Prim Prev ; 38(1-2): 27-48, 2017 04.
Artículo en Inglés | MEDLINE | ID: mdl-27520459

RESUMEN

Sexually transmitted infection (STI) and birth rates among American Indian/Alaska Native (AI/AN) youth indicate a need for effective middle school HIV/STI and pregnancy prevention curricula to delay, or mitigate, the consequences of early sexual activity. While effective curricula exist, there is a dearth of curricula with content salient to AI/AN youth. Further, there is a lack of sexual health curricula that take advantage of the motivational appeal, reach, and fidelity of communication technology for this population, who are sophisticated technology users. We describe the adaptation process used to develop Native It's Your Game, a stand-alone 13-lesson Internet-based sexual health life-skills curriculum adapted from an existing promising sexual health curriculum, It's Your Game-Tech (IYG-Tech). The adaptation included three phases: (1) pre-adaptation needs assessment and IYG-Tech usability testing; (2) adaptation, including design document development, prototype programming, and alpha testing; and (3) post-adaption usability testing. Laboratory- and school-based tests with AI/AN middle school youth demonstrated high ratings on usability parameters. Youth rated the Native IYG lessons favorably in meeting the needs of AI/AN youth (54-86 % agreement across lessons) and in comparison to other learning channels (57-100 %) and rated the lessons as helpful in making better health choices (73-100 %). Tribal stakeholders rated Native IYG favorably, and suggested it was culturally appropriate for AI/AN youth and suitable for implementation in tribal settings. Further efficacy testing is indicated for Native IYG, as a potential strategy to deliver HIV/STI and pregnancy prevention to traditionally underserved AI/AN middle school youth.


Asunto(s)
Conducta del Adolescente/etnología , Investigación Participativa Basada en la Comunidad/organización & administración , Competencia Cultural , Indígenas Norteamericanos/educación , Embarazo en Adolescencia/prevención & control , Salud Sexual/educación , Enfermedades de Transmisión Sexual/prevención & control , Adolescente , Conducta del Adolescente/psicología , Alaska/epidemiología , Investigación Participativa Basada en la Comunidad/métodos , Instrucción por Computador/métodos , Femenino , Infecciones por VIH/etnología , Infecciones por VIH/prevención & control , Implementación de Plan de Salud/métodos , Implementación de Plan de Salud/organización & administración , Humanos , Internet , Embarazo , Embarazo en Adolescencia/etnología , Evaluación de Programas y Proyectos de Salud , Enfermedades de Transmisión Sexual/etnología
11.
BMC Med Res Methodol ; 15: 104, 2015 Dec 01.
Artículo en Inglés | MEDLINE | ID: mdl-26621534

RESUMEN

BACKGROUND: Surveys are commonly used in health research to assess patient satisfaction with hospital care. Achieving an adequate response rate, in the face of declining trends over time, threatens the quality and reliability of survey results. This paper evaluates a strategy to increase the response rate in a postal satisfaction survey with women who had recently given birth. METHODS: A sample of 2048 Australian women who had recently given birth at seven maternity units in New South Wales were invited to participate in a postal survey about their recent experiences with maternity care. The study design included a randomised controlled trial that tested two types of pre-notification letter (with or without the option of opting out of the survey). The study also explored the acceptability of a request for consent to link survey data with existing routinely collected health data (omitting the latter data items from the survey reduced survey length and participant burden). This consent was requested of all women. RESULTS: The survey had an overall response rate of 46% (913 completed surveys returned, total sample 1989). Women receiving the pre-notification letter with the option of opting out of the survey were more likely to actively decline to participate than women receiving the letter without this option, although the overall numbers of women declining were small (27 versus 12). Letter type was not significantly associated with the return of a completed survey. Among women who completed the survey, 97% gave consent to link their survey data with existing health data. CONCLUSIONS: The two types of pre-notification letters used in our study did not influence the survey response rate. However, seeking consent for record linkage was highly acceptable to women who completed the survey, and represents an important strategy to add to the arsenal for designing and implementing effective surveys. In addition to aspects of survey design, future research should explore how to more effectively influence personal constructs that contribute to the decision to participate in surveys.


Asunto(s)
Atención a la Salud/estadística & datos numéricos , Encuestas de Atención de la Salud/estadística & datos numéricos , Cooperación del Paciente/estadística & datos numéricos , Satisfacción del Paciente/estadística & datos numéricos , Proyectos de Investigación/estadística & datos numéricos , Encuestas y Cuestionarios , Adulto , Australia , Femenino , Humanos , Consentimiento Informado/estadística & datos numéricos , Nueva Gales del Sur , Servicios Postales , Periodo Posparto , Reproducibilidad de los Resultados
12.
Int J Circumpolar Health ; 74: 28704, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26380964

RESUMEN

BACKGROUND: Wild berries are a valued traditional food in Alaska. Phytochemicals in wild berries may contribute to the prevention of vascular disease, cancer and cognitive decline, making berry consumption important to community health in rural areas. Little was known regarding which species of berries were important to Alaskan communities, the number of species typically picked in communities and whether recent environmental change has affected berry abundance or quality. OBJECTIVE: To identify species of wild berries that were consumed by people in different ecological regions of Alaska and to determine if perceived berry abundance was changing for some species or in some regions. DESIGN: We asked tribal environmental managers throughout Alaska for their views on which among 12 types of wild berries were important to their communities and whether berry harvests over the past decade were different than in previous years. We received responses from 96 individuals in 73 communities. RESULTS: Berries that were considered very important to communities differed among ecological regions of Alaska. Low-bush blueberry (Vaccinium uliginosum and V. caespitosum), cloudberry (Rubus chamaemorus) and salmonberry (Rubus spectabilis) were most frequently identified as very important berries for communities in the boreal, polar and maritime ecoregions, respectively. For 7 of the 12 berries on the survey, a majority of respondents indicated that in the past decade abundance had either declined or become more variable. CONCLUSIONS: Our study is an example of how environmental managers and participants in local observer networks can report on the status of wild resources in rural Alaska. Their observations suggest that there have been changes in the productivity of some wild berries in the past decade, resulting in greater uncertainty among communities regarding the security of berry harvests. Monitoring and experimental studies are needed to determine how environmental change may affect berry abundance.


Asunto(s)
Abastecimiento de Alimentos , Frutas , Alaska , Regiones Árticas , Humanos , Población Rural
13.
J Adolesc Health ; 57(3): 334-41, 2015 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-26299560

RESUMEN

PURPOSE: American Indian and Alaska Native (AI/AN) youth experience disparities associated with sexual and reproductive health, including early age of sexual initiation. Identifying factors that are most proximally related to early sexual intercourse and that are modifiable through health promotion interventions may help to reduce these disparities. Using a multisystem approach, we assessed individual (biological, psychological, and behavioral), familial, and extrafamilial (peer behavioral) factors associated with lifetime sexual experience among AI/AN early adolescents living in three geographically dispersed U.S. regions. METHODS: We analyzed cross-sectional data from 537 AI/AN youth aged 12-14 years, recruited from 27 study sites in Alaska, Arizona, and the Pacific Northwest. We used multilevel logistic regression models to estimate associations between independent variables and lifetime sexual intercourse (oral and/or vaginal sex) individually, within discrete systems, and across systems. RESULTS: The analytical sample was 55.1% female, with a mean age of 13.2 years (standard deviation = 1.06 years); 6.5% were sexually experienced. In the final model, we found that lower next-year intentions to have oral or vaginal sex (psychological factors), avoidance of risky situations, and nonuse of alcohol (behavioral factors) were associated with lower odds of lifetime sexual intercourse (all p ≤ .01). No other variables were significantly associated with lifetime sexual intercourse. CONCLUSIONS: Interventions that reduce sexual intentions, exposure to risky situations, and alcohol use may help to delay sexual initiation among AI/AN early adolescents.


Asunto(s)
Conducta del Adolescente/etnología , Conducta del Adolescente/psicología , Indígenas Norteamericanos/psicología , Conducta Sexual/etnología , Conducta Sexual/psicología , Adolescente , Alaska , Niño , Estudios Transversales , Femenino , Disparidades en Atención de Salud , Humanos , Modelos Logísticos , Masculino , Salud Reproductiva , Asunción de Riesgos , Consumo de Alcohol en Menores/psicología
15.
J Glaucoma ; 24(1): 51-4, 2015 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-25535688

RESUMEN

PURPOSE: To determine the mechanism by which topically applied AR-13324, a rho kinase inhibitor, and an inhibitor of the norepinephrine transporter, reduces intraocular pressure (IOP) in normotensive monkey eyes. METHODS: Seven normotensive monkeys were used. Tonographic outflow facility (C) was measured before drug administration and repeated 6 hours after administration of 50 µL (25 µL×2) of 0.04% AR-13324 to 1 eye and an equal volume of vehicle to the contralateral control eye. Baseline aqueous humor flow rates (F) were measured hourly for 6 hours beginning at 10:00 AM on day 1. On day 2, 50 µL (25 µL×2) of 0.04% AR-13324 was applied to 1 eye of each animal and vehicle to the fellow eye at 8:00 AM. Aqueous humor flow rates were measured at the same times as on the baseline day beginning 2 hours after dosing. RESULTS: Six hours after a single dose of 0.04% AR-13324 to 7 normal monkey eyes, C was increased (P<0.05) by 53% in drug-treated eyes compared with either contralateral vehicle-treated control eyes or baseline measurements. The IOP measured by pneumatonometer in treated eyes was reduced (P<0.005) by 25% when compared with baseline measurements and by 24% when compared with contralateral vehicle-treated eyes. For 6 hours after a single dose of 0.04% AR-13324, F was reduced (P<0.05) by 20% and 23% when compared with contralateral vehicle-treated eyes and baseline values, respectively. CONCLUSIONS: AR-13324 reduces IOP in normotensive monkey eyes. A dual mechanism of action, increase in tonographic outflow facility, and decrease of aqueous humor flow rates, accounts for the IOP reduction in normotensive monkey eyes.


Asunto(s)
Antihipertensivos/farmacología , Humor Acuoso/fisiología , Presión Intraocular/efectos de los fármacos , Proteínas de Transporte de Noradrenalina a través de la Membrana Plasmática/antagonistas & inhibidores , Quinasas Asociadas a rho/antagonistas & inhibidores , Administración Tópica , Animales , Femenino , Macaca fascicularis , Soluciones Oftálmicas , Tonometría Ocular
17.
Mol Genet Genomic Med ; 2(5): 430-7, 2014 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-25333068

RESUMEN

Pathogenic mutations in the three known genes - the amyloid precursor protein (APP), presenilin 1 (PSEN1), presenilin 2 (PSEN2) - are known to cause familial Alzheimer's disease (AD) and tend to be associated with early-onset AD. However, the frequency and risk associated with these mutations vary widely. In addition, mutations in the frontotemporal lobar degeneration (FTLD) genes - the microtubule-associated protein tau (MAPT), granulin (GRN) - have also been found to be associated with clinical AD. Here, we conducted targeted resequencing of the exons in genes encoding APP, PSEN1, PSEN2, GRN, and MAPT in 183 individuals from families with four or more affected relatives, presumed to be AD, and living in the Dominican Republic and Puerto Rico. We then performed linkage and family-based association analyses in carrier families, and genotyped 498 similarly aged unrelated controls from the same ethnic background. Twelve potentially pathogenic mutations were found to be associated with disease in 53 individuals in the five genes. The most frequently observed mutation was the p.Gly206Ala variant in PSEN1 present in 30 (57%) of those sequenced. In the combined linkage and association analyses several rare variants were associated with dementia. In Caribbean Hispanics with familial AD, potentially pathogenic variants were present in 29.2%, four were novel mutations, while eight had been previously observed. In addition, some family members carried variants in the GRN and MAPT genes which are associated with FTLD.

18.
Cornea ; 33(11): 1186-92, 2014 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-25255135

RESUMEN

PURPOSE: Dry eye disease (DED) is a common ocular disease that can have adverse effects on quality of life. Our aim was to develop a single-item questionnaire that is reliable, patient-driven, and clinic friendly to assess DED symptoms and their effect on quality of life to help support the management of patients with DED. METHODS: An initial dry eye questionnaire was created and administered to 18 patients with DED followed by a 15-minute cognitive interviewing session. This questionnaire was then refined using feedback obtained from the cognitive interview and was termed the University of North Carolina Dry Eye Management Scale (UNC DEMS). Field testing was then performed on 66 patients (46 with DED and 20 without DED) to determine the validity and test-retest reliability of the UNC DEMS compared with the current gold standard, the Ocular Surface Disease Index (OSDI). Pearson correlation coefficients were calculated between the UNC DEMS, OSDI, and other DED measures to assess criterion-related validity. Reliability coefficients were estimated for test-retest reliability. RESULTS: Comparing the UNC DEMS with the OSDI across all study participants, the correlation coefficient was 0.80 (P < 0.001). Comparing the UNC DEMS with the OSDI in the DED group, the correlation coefficient was 0.69 (P < 0.001). The test-retest reliability coefficient of the UNC DEMS was estimated to be 0.90. CONCLUSIONS: The UNC DEMS is a valid, reliable questionnaire that can be efficiently administered in a busy clinical practice and can be used to support the management of patients with DED.


Asunto(s)
Síndromes de Ojo Seco/diagnóstico , Síndromes de Ojo Seco/psicología , Calidad de Vida/psicología , Perfil de Impacto de Enfermedad , Encuestas y Cuestionarios , Centros Médicos Académicos , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , North Carolina , Oftalmología , Reproducibilidad de los Resultados
19.
Eye Contact Lens ; 40(2): 111-5, 2014 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-24508770

RESUMEN

OBJECTIVE: To assess the perceptions of eye care providers regarding the clinical management of dry eye. METHODS: Invitations to complete a 17-question online survey were mailed to 400 members of the North Carolina Ophthalmology and Optometry Associations including community optometrists, comprehensive ophthalmologists, and cornea specialists. RESULTS: The survey was completed by 100 eye care providers (25% response rate). Providers reported burning (46.5%) as the most frequent symptom described by patients, followed by foreign body sensation (30.3%) and tearing (17.2%). Most respondents (80.8%) listed artificial tears as the recommended first-line treatment, even though providers reported high failure rates for both artificial tears and cyclosporine A (Restasis). Rheumatoid arthritis, Sjögren syndrome, affective disorders such as anxiety and depression, history of photorefractive surgery, smoking, and thyroid disease were acknowledged as common comorbid conditions. CONCLUSIONS: The survey provided an informative snapshot into the preferences of eye care providers concerning the diagnosis and management of dry eye disease. Overall, burning was the most common symptom reported by patients. Providers relied more on patient history in guiding their clinical decisions than objective signs. The survey underscores the incongruence when comparing subjective symptoms with objective signs, thereby highlighting the urgent need for the development of reliable metrics to better quantify dry eye symptoms and also the development of a more sensitive and specific test that can be used as the gold standard to diagnose dry eye.


Asunto(s)
Actitud del Personal de Salud , Síndromes de Ojo Seco/terapia , Adulto , Manejo de la Enfermedad , Síndromes de Ojo Seco/diagnóstico , Humanos , North Carolina , Encuestas y Cuestionarios , Insuficiencia del Tratamiento
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