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2.
Sci Total Environ ; 688: 684-690, 2019 Oct 20.
Artigo em Inglês | MEDLINE | ID: mdl-31254834

RESUMO

The isolation of highly efficient methanotrophic communities is crucial for the optimization of methane bioconversion into products with a high market value such as polyhydroxyalkanoates (PHA). The research here presented aimed at enriching a methanotrophic consortium from two different inocula (Sphagnum peat moss (Sp) and Sphagnum and activated sludge (M)) able to accumulate PHA while efficiently oxidizing CH4. Moreover, the effect of the temperature and phosphorus limitation on the biodegradation rate of CH4 and the PHA accumulation potential was investigated. Higher CH4 degradation rates were obtained under P availability at increasing temperature (25, 30 and 37 °C). The biomass enriched from the mixed inoculum always exhibited a superior biodegradation performance regardless of the temperature (a maximum value of 84.3 ±â€¯8.4 mg CH4 h-1 g biomass-1 was recorded at 37 °C). The results of the PHB production showed that phosphorus limitation is required to promote PHB accumulation, the highest PHB content being observed with the Sphagnum inoculum at 25 °C (13.6 ±â€¯5.6%). The differential specialization of the microbial communities depending on the enrichment temperature supported the key role of this parameter on the results obtained. In all cases after the completion of the enrichment process and of the P limitation tests, Methylocystis, a type II methanotroph known for its ability to accumulate PHA, was the genus that became dominant (reaching percentages from 16 to 46% depending on the enrichment temperature). Thus, the results here obtained demonstrated for the first time the relevance of the temperature used for the enrichment of the methanotrophic bacteria to boost PHA production yields under P limiting condition, highlighting the importance of optimizing culture conditions to improve the cost-efficiency of bioprocesses based on using methane as the primary feedstock for the PHA industrial market.


Assuntos
Biodegradação Ambiental , Metano/metabolismo , Poli-Hidroxialcanoatos/metabolismo , Sphagnopsida/metabolismo , Fósforo , Temperatura
3.
Fed Pract ; 35(9): 24-26, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30766383

RESUMO

Consider flexible bronchoscopy as an option to retrieve aspirated foreign bodies in the airway.

4.
Rev. neurol. (Ed. impr.) ; 65(10): 447-456, 16 nov., 2017. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-169068

RESUMO

Introducción. La terapia de reminiscencia es una de las intervenciones psicosociales mas eficaces para personas con demencia. Objetivos. Analizar la eficacia de la terapia de reminiscencia grupal en personas con demencia y comprobar su participación en el diseno y evaluacion. Pacientes y métodos. Se revisaron las bases de datos CINHAL, PubMed, Psicodoc y PsycINFO, en el periodo 2004-2016, y se realizo una revision sistematica, evaluacion de calidad y metaanalisis de los articulos. Resultados. Los 14 estudios seleccionados presentaron riesgo de sesgo moderado, los participantes que recibieron terapia de reminiscencia experimentaron una mejoria leve en cognicion (dMR = 0,26; IC 95%: 0,11-0,40; p = 0,0006; I2 = 0%), y esta fue mayor que la del grupo control (dc = 0,37; IC 95%: 0,11-0,63; p = 0,005; I2 = 0%). No se encontraron mejorias en el estado de animo, la calidad de vida, las alteraciones de conducta ni las actividades de la vida diaria. Ningun estudio incluyo a las personas con demencia ni a sus acompanantes en el diseno y evaluacion. Conclusiones. La terapia de reminiscencia grupal tiene efectos favorables sobre la cognicion. Es necesaria la inclusion de las personas con demencia en el diseno y planificacion de las intervenciones, asi como la realizacion de mas ensayos clínicos aleatorizados (AU)


Introduction. Reminiscence therapy is one of the most effective psychosocial interventions for people with dementia. Aims. To analyse the effectiveness of group reminiscence therapy in people with dementia and to check their involvement in the design and evaluation of the interventions. Patients and methods. CINHAL, PubMed, Psicodoc and PsycINFO databases were searched for the period of 2004 to 2016. A systematic search was performed, as well as a quality assessment and a meta-analysis of the articles. Results. The 14 studies selected had a moderate risk of bias. People with dementia who received group reminiscence therapy experienced an improvement in cognition (dMR = 0.26; 95% CI: 0.11-0.40; p = 0.0006; I2 = 0%) which was larger than the one observed in the control group (dc = 0.37; 95% CI: 0.11-0.63; p = 0.005; I2 = 0%). There was no improvement in mood, quality of life, behaviour or activities of daily living. People with dementia were not included in the design nor in the evaluation of the interventions. Conclusions. Group reminiscence therapy for people with dementia has favourable effects in cognition. there is a need for the inclusion of people with dementia in the design and planning of the interventions and for more randomised controlled trials (AU)


Assuntos
Humanos , Demência/terapia , Psicoterapia de Grupo/métodos , Terapia Cognitivo-Comportamental/métodos , Rememoração Mental , Transtornos Cognitivos/terapia , Envelhecimento Cognitivo , Transtorno da Conduta/terapia
5.
Rev. neurol. (Ed. impr.) ; 65(3): 97-104, 1 ago., 2017. tab
Artigo em Espanhol | IBECS | ID: ibc-165552

RESUMO

Introducción. Se han encontrado déficits en el reconocimiento de emociones en personas con enfermedad de Alzheimer (EA), pero no se ha informado de ningún tratamiento rehabilitador de esta capacidad en esta población. Objetivo. Evaluar la eficacia de un tratamiento combinado de rehabilitación del reconocimiento de emociones (RRE) y estimulación cognitiva (EsC) sobre las funciones cognitivas, el estado de ánimo, la anosognosia, la capacidad funcional y el reconocimiento de emociones de personas con EA. Sujetos y métodos. En un diseño cuasi experimental, 36 pacientes con EA fueron asignados a tres condiciones: un grupo experimental, que recibió 20 sesiones de RRE y 20 sesiones de EsC; un grupo control, que recibió 40 sesiones de EsC, y un grupo que recibió tratamiento usual (GTU). Resultados. Completaron el estudio 32 pacientes, con una edad media de 77,53 ± 5,43 años. Se observó mejoría en el Minimental State Examination en su versión de 30 ítems (F = 5,10; p = 0,013) y en la de 35 (F = 4,16; p = 0,026), reconocimiento de afectos (Z = -2,81; p = 0,005) y actividades básicas de la vida diaria (Z = -2,27; p = 0,018) a favor del grupo experimental. El grupo que recibió tratamiento usual empeoró en depresión (Z = -1,99; p = 0,048), apatía (Z = -2,30; p = 0,022) y anosognosia (Z = -2,19; p = 0,028). Conclusiones. El tratamiento combinado de RRE y EsC fue más eficaz que la EsC y que el tratamiento usual. Es la primera vez que se informa de un tratamiento rehabilitador del reconocimiento de emociones en personas con EA (AU)


Introduction. The ability to recognize facial emotional expression is essential for social interactions and adapting to the environment. Emotion recognition is impaired in people with Alzheimer’s disease (AD), thus rehabilitation of these skills has the potential to elicit significant benefits. Aim. To assess the efficacy of a combined treatment of rehabilitation of emotion recognition (RER) and cognitive stimulation (CS) for people with AD, due to its potential implications for more effective psychosocial interventions. Subjects and methods. 36 patients were assigned to one of three experimental conditions: an experimental group (EG) that received 20 sessions of RER and 20 sessions of CS; a control group (CG) that received 40 sessions of CS, and a treatment as usual group (TAU). Results. 32 patients completed the treatment (77.53 ± 5.43 years). Significant differences were found in MMSE30 (F = 5.10; p = 0.013), MMSE35 (F = 4.16; p = 0.026), affect recognition (Z = -2.81; p = 0.005) and basic activities of daily living (Z = -2.27; p = 0.018) favouring the efficacy of the combined treatment. The TAU group showed a decline in depression (Z = -1.99; p = 0.048), apathy (Z = -2.30; p = 0.022) and anosognosia (Z = -2.19; p = 0.028). Conclusions. The combined treatment of RER + CS was more effective than TAU and CS alone for the treatment of patients with AD. This is the first study about the rehabilitation of affect recognition in AD (AU)


Assuntos
Humanos , Masculino , Feminino , Idoso , Idoso de 80 Anos ou mais , Doença de Alzheimer/reabilitação , Terapia Cognitivo-Comportamental/métodos , Sintomas Afetivos/terapia , Reconhecimento Facial , Estudos de Casos e Controles , Demência/reabilitação , Estudos Controlados Antes e Depois
6.
Rev. calid. asist ; 29(2): 69-77, mar.-abr. 2014.
Artigo em Inglês | IBECS | ID: ibc-121189

RESUMO

Objective. To describe the development process and characteristics of a patient safety incidents reporting system to be implemented in the Spanish National Health System, based on the context and the needs of the different stakeholders. Design. Literature review and analysis of most relevant reporting systems, identification of more than 100 stakeholder's (patients, professionals, regional governments representatives) expectations and requirements, analysis of the legal context, consensus of taxonomy, development of the software and pilot test. Results. Patient Safety Events Reporting and Learning system (Sistema de Notificación y Aprendizajepara la Seguridad del Paciente, SiNASP) is a generic reporting system for all types of incidents related to patient safety, voluntary, confidential, non punitive, anonymous or nominative with anonimization, system oriented, with local analysis of cases and based on the WHO International Classification for Patient Safety. The electronic program has an on-line form for reporting, a software to manage the incidents and improvement plans, and a scoreboard with process indicators to monitor the system. Conclusions. The reporting system has been designed to respond to the needs and expectations identified by the stakeholders, taking into account the lessons learned from the previous notification systems, the characteristics of the National Health System and the existing legal context. The development process presented and the characteristics of the system provide a comprehensive framework that can be used for future deployments of similar patient safety systems (AU)


Objetivo. Describir el proceso de desarrollo y las características del sistema de notificación de incidentes de seguridad del paciente para el Sistema Nacional de Salud, basado en el contexto y en las necesidades de los distintos implicados. Diseño. Revisión bibliográfica y análisis de los sistemas de notificación más relevantes, identificación de las necesidades y expectativas de más de 100 implicados (pacientes, profesionales, representantes de las Comunidades Autónomas), análisis del contexto legal, conseso de la taxonomía del SiNASP, desarrollo del programa informático y prueba piloto. Resultados. SiNASP es un sistema de notificación genérico para todo tipo de incidentes relacionados con la seguridad del paciente, voluntario, confidencial, no punitivo, anónimo o nominativo con deidentificación, con orientación sistémica, con análisis local de casos y basado en la Clasificación Internacional de Seguridad del Paciente de la OMS. La aplicación informática tiene un cuestionario para la notificación a través de internet, un software para gestionar los incidentes y los planes de mejora y un cuadro de mando de indicadores para monitorizar el sistema. Conclusiones. El sistema de notificación se ha diseñado para dar respuesta a las necesidad y expectativas de los implicados, teniendo en cuenta las lecciones aprendidas de los sistemas de identificación previos, las características del Sistema Nacional de Salud y el contexto legal. El proceso de desarrollo descrito y las características del sistema proporcionan un marco que puede servir de base para el desarrollo de otros sistemas de seguridad del paciente (AU)


Assuntos
Humanos , Masculino , Feminino , Gestão da Segurança/organização & administração , Gestão da Segurança/normas , Gestão da Segurança , /organização & administração , /normas , Segurança do Paciente/legislação & jurisprudência , Segurança do Paciente/estatística & dados numéricos , Segurança do Paciente/normas , Gestão da Segurança/ética , Gestão da Segurança/métodos , Gestão da Segurança/estatística & dados numéricos , /tendências , Segurança do Paciente/economia
7.
Rev Calid Asist ; 29(2): 69-77, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24215902

RESUMO

OBJECTIVE: To describe the development process and characteristics of a patient safety incidents reporting system to be implemented in the Spanish National Health System, based on the context and the needs of the different stakeholders. DESIGN: Literature review and analysis of most relevant reporting systems, identification of more than 100 stakeholder's (patients, professionals, regional governments representatives) expectations and requirements, analysis of the legal context, consensus of taxonomy, development of the software and pilot test. RESULTS: Patient Safety Events Reporting and Learning system (Sistema de Notificación y Aprendizajepara la Seguridad del Paciente, SiNASP) is a generic reporting system for all types of incidents related to patient safety, voluntary, confidential, non punitive, anonymous or nominative with anonimization, system oriented, with local analysis of cases and based on the WHO International Classification for Patient Safety. The electronic program has an on-line form for reporting, a software to manage the incidents and improvement plans, and a scoreboard with process indicators to monitor the system. CONCLUSIONS: The reporting system has been designed to respond to the needs and expectations identified by the stakeholders, taking into account the lessons learned from the previous notification systems, the characteristics of the National Health System and the existing legal context. The development process presented and the characteristics of the system provide a comprehensive framework that can be used for future deployments of similar patient safety systems.


Assuntos
Atenção à Saúde/normas , Segurança do Paciente/normas , Gestão de Riscos , Humanos , Gestão de Riscos/organização & administração , Espanha
8.
Bol Asoc Med P R ; 103(1): 34-40, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21696100

RESUMO

Pulmonary arterial hypertension used to be considered an ultimately fatal disease despite the formerly available therapy. It is a disease characterized by progressive elevation of pulmonary vascular resistance and pulmonary arterial pressure, eventually resulting in right ventricular failure and death. The purpose of this article is to review the basic pathophysiologic processes involved in pulmonary arterial hypertension, to discuss patient presentation, classification, and diagnostic workup. Regarding treatment, all patients with PAH should be considered for standard therapy with anticoagulation, oxygen, and diuretics for management of right heart failure. Calcium channel blockers are only indicated for patients with a positive acute vasoreactivity test. Patients with a negative vasoreactivity test and considered low risk can be treated with oral agents such as endothelin receptor antagonists or PDE-5 inhibitor. Patients at high risk should be treated with prostacyclin analogs. Finally, a brief mention of new and future potential therapeutic strategies is also included.


Assuntos
Hipertensão Pulmonar , Hipertensão Pulmonar Primária Familiar , Humanos , Hipertensão Pulmonar/diagnóstico , Hipertensão Pulmonar/tratamento farmacológico , Hipertensão Pulmonar/fisiopatologia
9.
J Asthma ; 45(9): 766-9, 2008 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-18972292

RESUMO

Bronchial asthma is one of the most common chronic conditions seen by any health care professional. Multiple stimuli may lead to acute airway hyperresponsiveness and an exacerbation of the disease, gastroesophageal reflux disease being one of them. We report the case of an elderly patient with chronic gastroesophageal reflux disease who secondarily developed a tracheoesophageal fistula, resulting in recurrent exacerbations of previously well-controlled asthma. After endoscopic correction of the fistula, the patient's respiratory disease improved dramatically, with essentially no exacerbations requiring urgent care or hospitalization.


Assuntos
Asma/etiologia , Fístula Traqueoesofágica/complicações , Idoso , Humanos , Masculino , Fístula Traqueoesofágica/diagnóstico , Fístula Traqueoesofágica/cirurgia
10.
P R Health Sci J ; 27(2): 181-2, 2008 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-18616048

RESUMO

Flow volume loops are an essential part of spirometry testing. Their appearance can give information that can be helpful in the differential diagnosis of a patient's clinical condition. We present two clinical scenarios in which careful evaluation of the flow-volume loop gives an insight into the cause of the disease process.


Assuntos
Laringoestenose/fisiopatologia , Espirometria , Tuberculose Laríngea/fisiopatologia , Idoso , Glote , Humanos , Laringoestenose/diagnóstico , Masculino , Tuberculose Laríngea/diagnóstico
11.
Am J Respir Crit Care Med ; 177(11): 1194-200, 2008 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-18310477

RESUMO

RATIONALE: Independent replication of genetic associations in complex diseases, particularly in whole-genome association studies, is critical to confirm the association. OBJECTIVES: A whole-genome association study identified ORMDL3 as a promising candidate gene for asthma in white populations. Here, we attempted to confirm the role of ORMDL3 genetic variants in asthma in three ethnically diverse populations: Mexican, Puerto Rican, and African American. METHODS: We used family-based analyses to test for association between seven candidate single-nucleotide polymorphisms (SNPs) in and around the ORMDL3 gene and asthma and related phenotypes in 701 Puerto Rican and Mexican parent-child trios. We also evaluated these seven SNPs and an additional ORMDL3 SNP in 264 African American subjects with asthma and 176 healthy control subjects. MEASUREMENTS AND MAIN RESULTS: We found significant associations between two SNPs within ORMDL3 (rs4378650 and rs12603332) and asthma in Mexicans and African Americans (P = 0.028 and 0.001 for rs4378650 and P = 0.021 and 0.001 for rs12603332, respectively), and a trend toward association in Puerto Ricans (P = 0.076 and 0.080 for SNPs rs4378650 and rs12603332, respectively). These associations became stronger among Mexican and Puerto Rican subjects with asthma with IgE levels greater than 100 IU/ml. We did not find any association between ORMDL3 SNPs and baseline lung function or response to the bronchodilator albuterol. CONCLUSIONS: Our results confirm that the ORMDL3 locus is a risk factor for asthma in ethnically diverse populations. However, inconsistent SNP-level results suggest that further studies will be needed to determine the mechanism by which ORMDL3 predisposes to asthma.


Assuntos
Asma/etnologia , Asma/genética , Negro ou Afro-Americano/genética , Proteínas de Membrana/genética , Americanos Mexicanos/genética , Polimorfismo de Nucleotídeo Único/genética , Adolescente , Adulto , Estudos de Casos e Controles , Criança , Feminino , Volume Expiratório Forçado , Predisposição Genética para Doença/etnologia , Predisposição Genética para Doença/genética , Humanos , Masculino , Porto Rico/etnologia , Espirometria , Estados Unidos/epidemiologia
12.
J Asthma ; 44(8): 639-48, 2007 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-17943575

RESUMO

Socioeconomic and environmental differences do not fully explain differences in asthma prevalence, morbidity, and mortality among Puerto Ricans, African Americans, and Mexican Americans. Differences in response to albuterol may be a factor. We compared bronchodilator responsiveness between these three populations. All groups demonstrated below expected responsiveness. Puerto Ricans of all ages and African American children with moderate-to-severe asthma demonstrated the lowest responsiveness overall. Among subjects with moderate-to-severe asthma, children were even less likely than adults to show the expected bronchodilator response. We conclude that ethnic-specific differences in bronchodilator drug responsiveness exist between Mexicans, Puerto Ricans, and African Americans with asthma. This may be of importance in asthma management.


Assuntos
Albuterol/uso terapêutico , Asma/tratamento farmacológico , Asma/etnologia , Negro ou Afro-Americano , Broncodilatadores/uso terapêutico , Hispânico ou Latino , Americanos Mexicanos , Adolescente , Adulto , Asma/fisiopatologia , Criança , Feminino , Volume Expiratório Forçado/efeitos dos fármacos , Humanos , Masculino , México , Cidade de Nova Iorque , Porto Rico , São Francisco , Estatísticas não Paramétricas , Capacidade Vital/efeitos dos fármacos
13.
J Allergy Clin Immunol ; 120(1): 137-43, 2007 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-17498790

RESUMO

BACKGROUND: High levels of IgE are associated with asthma. Whether higher levels of IgE are associated with more severe asthma is still unclear. OBJECTIVE: To determine whether IgE is associated with asthma severity among Latino and African American subjects with asthma. METHODS: We assessed lung function and asthma severity among African American, Mexican, and Puerto Rican patients with asthma with high IgE levels (> or =100 IU/mL; n = 492) and compared these values to those of patients with asthma with low IgE levels (<100 IU/mL; n = 247). We also examined IgE as a continuous variable among these groups. RESULTS: Patients with asthma with high IgE had a lower mean FEV(1) (87.6 +/- 17.1, percent of predicted) than patients with asthma with low IgE (91.5 +/- 17.0; P = .031). Regardless of race and ethnicity, baseline FEV(1), forced expiratory flow, and FEV(1)/forced vital capacity were lower among subjects with high IgE than among subjects with low IgE (P = .031, P < .0001, P = .0001, respectively). In addition, 54.7% of patients with asthma with high IgE had been previously hospitalized, compared with 44.1% of patients with asthma with low IgE (odds ratio, 1.33; 95% CI, 1.04-1.71). CONCLUSION: Higher IgE is associated with lower baseline lung function and more severe asthma among these populations. CLINICAL IMPLICATIONS: Among patients with asthma from 3 ethnically distinct groups, total IgE levels are inversely correlated with baseline lung function and asthma severity.


Assuntos
Asma/diagnóstico , Asma/etnologia , Imunoglobulina E/sangue , Adolescente , Adulto , Negro ou Afro-Americano , Criança , Humanos , México , Porto Rico
14.
J Allergy Clin Immunol ; 118(6): 1242-8, 2006 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-17157653

RESUMO

BACKGROUND: The prostanoid DP receptor (PTGDR) gene on chromosome 14q22.1 has been identified as an asthma susceptibility gene. A haplotype with decreased transcription factor binding and transcription efficiency was associated with decreased asthma susceptibility in African American and white subjects. The significance of PTGDR gene variants in asthma has yet to be determined in Latinos, the largest US minority population, nor has the association been replicated in other populations. OBJECTIVE: To determine the role of PTGDR gene variants in asthma susceptibility and asthma-related traits among the Mexican, Puerto Rican, and African American populations. METHODS: We determined whether single nucleotide polymorphisms (SNPs) and haplotypes in PTGDR were associated with asthma and asthma-related traits by family-based and cross-sectional cohort analyses in 336 Puerto Rican and 273 Mexican asthmatic trios and by case-control analysis among African American subjects with asthma and healthy controls (n = 352). RESULTS: We identified 13 SNPs in the PTGDR gene, and 6 were further analyzed. There was no significant association between PTGDR variants and asthma by family-based or case-control analyses. SNPs -441C and -197C and haplotype TTT showed marginal association with asthma-related traits in Mexican subjects. SNP -441 genotype TT (P = .05) and haplotype TTT (P = .02) were associated with increased IgE levels in African Americans. CONCLUSION: We conclude that the PTGDR gene is not a significant risk factor for asthma among Puerto Ricans, Mexicans, or African Americans. CLINICAL IMPLICATIONS: Asthma candidate genes provide insights to pathophysiology and potentially new therapeutic targets, although the PTGDR gene was not found to be a significant risk factor for asthma in 3 populations.


Assuntos
Asma/etnologia , Asma/genética , Negro ou Afro-Americano , Predisposição Genética para Doença , Hispânico ou Latino , Receptores Imunológicos/genética , Receptores de Prostaglandina/genética , Adolescente , Adulto , Estudos de Casos e Controles , Criança , Cromossomos Humanos Par 14/genética , Estudos de Coortes , Estudos Transversais , Feminino , Haplótipos , Humanos , Masculino , Americanos Mexicanos , Polimorfismo de Nucleotídeo Único , Porto Rico/etnologia
15.
Am J Respir Crit Care Med ; 174(10): 1088-93, 2006 Nov 15.
Artigo em Inglês | MEDLINE | ID: mdl-16973984

RESUMO

BACKGROUND: Puerto Ricans, an admixed population of African, European, and Native American ancestries, have the highest asthma prevalence, morbidity, and mortality rates of any United States' population. Although socioeconomic status (SES) is negatively correlated with asthma incidence in most populations, no such relationship has been identified among Puerto Ricans. We hypothesized that, in this admixed population, the association between SES and asthma may interact with genetic ancestry. METHODS: We analyzed 135 Puerto Rican subjects with asthma and 156 control subjects recruited from six different recruitment centers in Puerto Rico. Individual ancestry for each subject was estimated using 44 ancestry informative markers. SES was assigned using the census tracts' median family income. Analyses of SES were based on the SES of the clinic site from which the subjects were recruited and on a subset of individuals on whom home address-based SES was available. RESULTS: In the two (independent) analyses, we found a significant interaction between SES, ancestry, and asthma disease status. At lower SES, European ancestry was associated with increased risk of asthma, whereas African ancestry was associated with decreased risk. The opposite was true for their higher SES counterparts. CONCLUSIONS: The observed interaction may help to explain the unique pattern of risk for asthma in Puerto Ricans and the lack of association with SES observed in previous studies when not accounting for varying proportions of ancestry.


Assuntos
Asma/etnologia , Asma/genética , Hispânico ou Latino , Classe Social , Adolescente , Adulto , Criança , Feminino , Predisposição Genética para Doença , Humanos , Masculino , Porto Rico/etnologia
16.
Hum Genet ; 118(5): 652-64, 2006 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-16283388

RESUMO

In the United States, asthma prevalence and mortality are the highest among Puerto Ricans and the lowest among Mexicans. Case-control association studies are a powerful strategy for identifying genes of modest effect in complex diseases. However, studies of complex disorders in admixed populations such as Latinos may be confounded by population stratification. We used ancestry informative markers (AIMs) to identify and correct for population stratification among Mexican and Puerto Rican subjects participating in case-control studies of asthma. Three hundred and sixty-two subjects with asthma (Mexican: 181, Puerto Rican: 181) and 359 ethnically matched controls (Mexican: 181, Puerto Rican: 178) were genotyped for 44 AIMs. We observed a greater than expected degree of association between pairs of AIMs on different chromosomes in Mexicans (P < 0.00001) and Puerto Ricans (P < 0.00002) providing evidence for population substructure and/or recent admixture. To assess the effect of population stratification on association studies of asthma, we measured differences in genetic background of cases and controls by comparing allele frequencies of the 44 AIMs. Among Puerto Ricans but not in Mexicans, we observed a significant overall difference in allele frequencies between cases and controls (P = 0.0002); of 44 AIMs tested, 8 (18%) were significantly associated with asthma. However, after adjustment for individual ancestry, only two of these markers remained significantly associated with the disease. Our findings suggest that empirical assessment of the effects of stratification is critical to appropriately interpret the results of case-control studies in admixed populations.


Assuntos
Fatores de Confusão Epidemiológicos , Genética Populacional , Hispânico ou Latino/genética , Alelos , Mapeamento Cromossômico , Frequência do Gene , Marcadores Genéticos , Genótipo , Humanos , México/etnologia , Porto Rico/etnologia
17.
Am J Respir Crit Care Med ; 172(2): 173-82, 2005 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-15879416

RESUMO

BACKGROUND: A recent family-based genomewide screen revealed linkage between the 5q31 region and the diagnosis of asthma, but only in those exposed to environmental tobacco smoke (ETS). Among the candidate genes in this region is CD14. METHODS: To determine whether polymorphisms in the CD14 gene are related to this gene-by-environment interaction in Latinos, we used both family-based and cross-sectional cohort analysis to test for interactions between CD14 genotypes/haplotypes, exposure to ETS, and asthma-related phenotypes in 659 Mexican and Puerto Rican families. RESULTS: We identified 21 single nucleotide polymorphisms (SNPs) in the CD14 gene by sequencing 72 Puerto Ricans, Mexicans, and African Americans with asthma. Three SNPs, -810, -159, and +1437, were further genotyped in families with asthma. Among all subjects with asthma exposed to ETS, without regard to ethnicity, CD14 +1437 genotypes were associated with asthma severity. SNP +1437 GG or GC genotypes were significantly associated with lower baseline FEV1 using both family-based (p = 0.0009) and cross-sectional cohort (p = 0.03) analyses. Subjects with asthma with the GG or GC genotypes who were exposed to ETS had mean baseline FEV1 (% predicted) values 8.6% lower than subjects not exposed to ETS (p = 0.03). As previously observed in whites, we found an interaction between plasma IgE levels, SNP -159 genotypes, and ETS exposure (p = 0.0002). The lowest IgE levels were in those subjects with the TT genotype and who were exposed to ETS regardless of ethnicity. CONCLUSIONS: Our data suggest a gene-by-environment interaction between CD14 genotypes and ETS, which affects pulmonary function and IgE levels among Latinos with asthma.


Assuntos
Asma/fisiopatologia , Hispânico ou Latino , Imunoglobulina E/sangue , Receptores de Lipopolissacarídeos/genética , Polimorfismo de Nucleotídeo Único , Poluição por Fumaça de Tabaco/efeitos adversos , Adolescente , Asma/tratamento farmacológico , Asma/etnologia , Asma/genética , Broncodilatadores/uso terapêutico , Criança , Feminino , Frequência do Gene , Genótipo , Humanos , Desequilíbrio de Ligação , Pulmão/fisiopatologia , Masculino , Índice de Gravidade de Doença
18.
Genet Epidemiol ; 29(1): 76-86, 2005 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-15918156

RESUMO

Genetic association studies in admixed populations may be biased if individual ancestry varies within the population and the phenotype of interest is associated with ancestry. However, recently admixed populations also offer potential benefits in association studies since markers informative for ancestry may be in linkage disequilibrium across large distances. In particular, the enhanced LD in admixed populations may be used to identify alleles that underlie a genetically determined difference in a phenotype between two ancestral populations. Asthma is known to have different prevalence and severity among ancestrally distinct populations. We investigated several asthma-related phenotypes in two ancestrally admixed populations: Mexican Americans and Puerto Ricans. We used ancestry informative markers to estimate the individual ancestry of 181 Mexican American asthmatics and 181 Puerto Rican asthmatics and tested whether individual ancestry is associated with any of these phenotypes independently of known environmental factors. We found an association between higher European ancestry and more severe asthma as measured by both forced expiratory volume at 1 second (r=-0.21, p=0.005) and by a clinical assessment of severity among Mexican Americans (OR: 1.55; 95% CI 1.25 to 1.93). We found no significant associations between ancestry and severity or drug responsiveness among Puerto Ricans. These results suggest that asthma severity may be influenced by genetic factors differentiating Europeans and Native Americans in Mexican Americans, although differing results for Puerto Ricans require further investigation.


Assuntos
Asma/etnologia , Asma/genética , Hispânico ou Latino/genética , Desequilíbrio de Ligação/genética , Americanos Mexicanos/genética , Adolescente , Broncodilatadores/uso terapêutico , Criança , Feminino , Volume Expiratório Forçado/efeitos dos fármacos , Volume Expiratório Forçado/genética , Marcadores Genéticos , Genótipo , Humanos , Imunoglobulina E/sangue , Imunoglobulina E/genética , Masculino , Fenótipo , Porto Rico/etnologia , Índice de Gravidade de Doença
19.
Am J Respir Crit Care Med ; 171(6): 563-70, 2005 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-15557128

RESUMO

BACKGROUND: In the United States, Puerto Ricans and Mexicans have the highest and lowest asthma prevalence, morbidity, and mortality, respectively. Ethnic-specific differences in the response to drug treatment may contribute to differences in disease outcomes. Genetic variants at the beta(2)-adrenergic receptor (beta(2)AR) may modify asthma severity and albuterol responsiveness. We tested the association of beta(2)AR genotypes with asthma severity and bronchodilator response to albuterol in Puerto Ricans and Mexicans with asthma. METHODS: We used both family-based and cross-sectional tests of association with 8 beta(2)AR single nucleotide polymorphisms in 684 Puerto Rican and Mexican families. Regression analyses were used to determine the interaction between genotype, asthma severity, and bronchodilator drug responsiveness. RESULTS: Among Puerto Ricans with asthma, the arginine (Arg) 16 allele was associated with greater bronchodilator response using both family-based and cross-sectional tests (p = 0.00001-0.01). We found a strong interaction of baseline FEV(1) with the Arg16Glycine (Gly) polymorphism in predicting bronchodilator response. Among Puerto Ricans with asthma with baseline FEV(1) < 80% of predicted, but not in those with FEV(1) > 80%, there was a very strong association between the Arg16 genotype and greater bronchodilator responsiveness. No association was observed between Arg16Gly genotypes and drug responsiveness among Mexicans with asthma. CONCLUSIONS: Ethnic-specific pharmacogenetic differences exist between Arg16Gly genotypes, asthma severity, and bronchodilator response in Puerto Ricans and Mexicans with asthma. These findings underscore the need for additional research on racial/ethnic differences in asthma morbidity and drug responsiveness.


Assuntos
Albuterol/uso terapêutico , Asma/tratamento farmacológico , Broncodilatadores/uso terapêutico , Hispânico ou Latino/genética , Americanos Mexicanos/genética , Adolescente , Albuterol/farmacocinética , Alelos , Asma/genética , Broncodilatadores/farmacocinética , Criança , Feminino , Frequência do Gene , Genótipo , Haplótipos , Humanos , Masculino , México , Polimorfismo de Nucleotídeo Único , Porto Rico/etnologia , Receptores Adrenérgicos beta 2/genética , Receptores Adrenérgicos beta 2/metabolismo , Análise de Regressão , Testes de Função Respiratória , Estados Unidos
20.
Pediatr Pulmonol ; 37(5): 453-60, 2004 May.
Artigo em Inglês | MEDLINE | ID: mdl-15095330

RESUMO

We conducted a survey to determine parent-reported asthma prevalence, morbidity, and healthcare utilization among 3527 children attending public schools (n = 2849) and private schools (n = 678) in San Juan, Puerto Rico. Schools were randomly selected from each of 12 geographic regions of the San Juan metropolitan area. Parents of children age 4-7 years old completed a 12-item questionnaire on asthma diagnosis, respiratory symptoms and morbidity, and healthcare utilization. Parents of children in public schools and private schools reported similar rates of a physician having previously diagnosed asthma in their children (43.2% vs. 39.4%); however, significantly more children in public schools were reported to still have asthma at the time of the survey (32.6% vs. 23.7%). Children attending public schools vs. private schools were reported to have missed significantly more school and to have had more hospitalizations and emergency department visits. Among children reported to still have asthma, significantly more children visited an emergency department, were hospitalized, and missed more school days due to respiratory symptoms in the past year. The high prevalence of parent-reported asthma, respiratory symptoms, and healthcare utilization among Puerto Rican children in San Juan calls for further studies using objective methods for ascertaining asthma and asthma-related morbidity. Differences in healthcare utilization between children attending public vs. private schools suggest that socioeconomic factors play a role in asthma management in Puerto Rico.


Assuntos
Asma/epidemiologia , Absenteísmo , Asma/diagnóstico , Criança , Serviço Hospitalar de Emergência/estatística & dados numéricos , Feminino , Humanos , Masculino , Pais , Pobreza , Prevalência , Porto Rico/epidemiologia , População Urbana/estatística & dados numéricos
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