RESUMO
Background: Social determinants of health (SDOH) and cumulative stress contribute to chronic disease development. The physiological response to repeated stressors typical of lower-income environments can be measured through allostatic load - a composite measure of cardiovascular, metabolic, and immune variables. Healthcare systems have employed patient navigation for social and medical needs to improve SDOH that has demonstrated limited impact on chronic disease outcomes. This study evaluates a novel community health worker navigation intervention developed using behavioral theories to improve access to social and medical services and provide social support for poverty stressed adults. Methods: The Integrated Population Health Study (IPOP) study is a randomized, parallel two arm study evaluating community health worker navigation in addition to an existing integrated population health program (IPOP CHW) as compared to Usual Care (population health program only, IPOP) on allostatic load and chronic disease risk factors. IPOP CHW participants receive a 10-month navigation intervention. Results: From 381 screened individuals, a total of 202 participants (age 58.15 ± 12.03 years, 74.75 % female, 79.21 % Black/African American, 17.33 % Hispanic) were enrolled and randomized to IPOP CHW (n = 100) or IPOP Only (n = 102). Conclusion: This study will evaluate whether CHW navigation, using a structured intervention based on health behavior theories, can effectively guide poverty stressed individuals to address social and medical needs to improve allostatic load-a composite of cumulative stress and physiological responses. Healthcare systems, nonprofit organizations, and governmental entities are interested in addressing SDOH to improve health, thus developing evidence-based interventions could have broad clinical and policy implications.
RESUMO
The Voice Handicap Index (VHI) is today regarded as the gold standard for measuring the subjective impairment of a voice disorder. The aim of our study is to present how the VHI in our version with 18 questions (VHI-18) can be evaluated with other patient collectives (practice visitors or everyday patients). The previous publications have shown that most patient groups were stationary or clinical. A total of 100 adult patients (72 female, 28 male) in our medical practice KOPFZENTRUM were examined. The reliability of the VHI-18 results from a Cronbach's Alpha (0.92). The VHI-18 is suitable as a diagnostic instrument for medical practices or logopaedic practices.
Assuntos
Avaliação da Deficiência , Distúrbios da Voz , Adulto , Feminino , Humanos , Masculino , Reprodutibilidade dos Testes , Índice de Gravidade de Doença , Inquéritos e Questionários , Distúrbios da Voz/diagnósticoRESUMO
Genetic disorders affecting biogenesis and transport of lysosome-related organelles are heterogeneous diseases frequently associated with albinism. We studied a patient with albinism, neutropenia, immunodeficiency, neurodevelopmental delay, generalized seizures, and impaired hearing but with no mutation in genes so far associated with albinism and immunodeficiency. Whole exome sequencing identified a homozygous mutation in AP3D1 that leads to destabilization of the adaptor protein 3 (AP3) complex. AP3 complex formation and the degranulation defect in patient T cells were restored by retroviral reconstitution. A previously described hypopigmented mouse mutant with an Ap3d1 null mutation (mocha strain) shares the neurologic phenotype with our patient and shows a platelet storage pool deficiency characteristic of Hermansky-Pudlak syndrome (HPS) that was not studied in our patient because of a lack of bleeding. HPS2 caused by mutations in AP3B1A leads to a highly overlapping phenotype without the neurologic symptoms. The AP3 complex exists in a ubiquitous and a neuronal form. AP3D1 codes for the AP3δ subunit of the complex, which is essential for both forms. In contrast, the AP3ß3A subunit, affected in HPS2 patients, is substituted by AP3ß3B in the neuron-specific heterotetramer. AP3δ deficiency thus causes a severe neurologic disorder with immunodeficiency and albinism that we propose to classify as HPS10.
Assuntos
Complexo 3 de Proteínas Adaptadoras/genética , Subunidades delta do Complexo de Proteínas Adaptadoras/genética , Síndrome de Hermanski-Pudlak/classificação , Síndrome de Hermanski-Pudlak/genética , Síndromes de Imunodeficiência/genética , Convulsões/genética , Eletroforese em Gel de Poliacrilamida , Imunofluorescência , Humanos , Mutação , TransfecçãoAssuntos
Síndrome Linfoproliferativa Autoimune , Proteínas Sanguíneas , Síndrome da Plaqueta Cinza , Proteínas do Tecido Nervoso , Receptores de Superfície Celular , Síndrome Linfoproliferativa Autoimune/diagnóstico , Síndrome Linfoproliferativa Autoimune/genética , Síndrome Linfoproliferativa Autoimune/metabolismo , Síndrome Linfoproliferativa Autoimune/patologia , Proteínas Sanguíneas/genética , Proteínas Sanguíneas/metabolismo , Pré-Escolar , Proteína Ligante Fas/genética , Proteína Ligante Fas/metabolismo , Feminino , Síndrome da Plaqueta Cinza/diagnóstico , Síndrome da Plaqueta Cinza/genética , Síndrome da Plaqueta Cinza/metabolismo , Síndrome da Plaqueta Cinza/patologia , Humanos , Lactente , Masculino , Proteínas do Tecido Nervoso/genética , Proteínas do Tecido Nervoso/metabolismo , Receptores de Superfície Celular/genética , Receptores de Superfície Celular/metabolismo , Receptor fas/genética , Receptor fas/metabolismoRESUMO
The initial clinical and hematologic presentation of infantile malignant osteopetrosis may be indistinguishable from that of juvenile myelomonocytic leukemia in infants. Timely radiographic imaging, however, allows straightforward delineation of these 2 severe diseases and facilitates immediate initiation of appropriate therapy.
Assuntos
Leucemia Mielomonocítica Juvenil/diagnóstico , Osteopetrose/diagnóstico , Diagnóstico Diferencial , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Osteopetrose/etiologia , Osteopetrose/terapiaRESUMO
OBJECTIVE: After a review of the existing practical solution available to the citizen to retrieve eHealth document, the paper describes an original specialized search engine WRAPIN. METHOD: WRAPIN uses advanced cross lingual information retrieval technologies to check information quality by synthesizing medical concepts, conclusions and references contained in the health literature, to identify accurate, relevant sources. Thanks to MeSH terminology [1] (Medical Subject Headings from the U.S. National Library of Medicine) and advanced approaches such as conclusion extraction from structured document, reformulation of the query, WRAPIN offers to the user a privileged access to navigate through multilingual documents without language or medical prerequisites. RESULTS: The results of an evaluation conducted on the WRAPIN prototype show that results of the WRAPIN search engine are perceived as informative 65% (59% for a general-purpose search engine), reliable and trustworthy 72% (41% for the other engine) by users. But it leaves room for improvement such as the increase of database coverage, the explanation of the original functionalities and an audience adaptability. CONCLUSION: Thanks to evaluation outcomes, WRAPIN is now in exploitation on the HON web site (http://www.healthonnet.org), free of charge. Intended to the citizen it is a good alternative to general-purpose search engines when the user looks up trustworthy health and medical information or wants to check automatically a doubtful content of a Web page.
