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1.
Urol Clin North Am ; 43(3): 289-97, 2016 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-27476122

RESUMO

This article assesses the reported prevalence and incidence rates for benign prostatic hyperplasia and lower urinary tract symptoms (BPH/LUTS) by age, symptom severity, and race/ethnicity. BPH/LUTS prevalence and incidence rates increase with increasing age and vary by symptom severity. The BPH/LUTS relationship is complex due to several factors. This contributes to the range of reported estimates and difficulties in drawing epidemiologic comparisons. Cultural, psychosocial, economic, and/or disease awareness and diagnosis factors may influence medical care access, symptom reporting and help-seeking behaviors among men with BPH/LUTS. However, these factors and their epidemiologic association with BPH/LUTS have not been thoroughly investigated.


Assuntos
Sintomas do Trato Urinário Inferior/epidemiologia , Hiperplasia Prostática/epidemiologia , Qualidade de Vida , Saúde Global , Humanos , Incidência , Sintomas do Trato Urinário Inferior/etiologia , Masculino , Prevalência , Hiperplasia Prostática/complicações
2.
BMC Med Genet ; 13: 95, 2012 Oct 09.
Artigo em Inglês | MEDLINE | ID: mdl-23046476

RESUMO

BACKGROUND: Despite the success of genome-wide association studies for asthma, few, if any, definitively causal variants have been identified and there is still a substantial portion of the heritability of the disease yet to be discovered. Some of this "missing heritability" may be accounted for by family-specific coding variants found to be segregating with asthma. METHODS: To identify family-specific variants segregating with asthma, we recruited one family from a previous study of asthma as reporting multiple asthmatic and non-asthmatic children. We performed whole-exome sequencing on all four children and both parents and identified coding variants segregating with asthma that were not found in other variant databases. RESULTS: Ten novel variants were identified that were found in the two affected offspring and affected mother, but absent in the unaffected father and two unaffected offspring. Of these ten, variants in three genes (PDE4DIP, CBLB, and KALRN) were deemed of particular interest based on their functional prediction scores and previously reported function or asthma association. We did not identify any common risk variants segregating with asthma, however, we did observe an increase in the number of novel, nonsynonymous variants in asthma candidate genes in the asthmatic children compared to the non-asthmatic children. CONCLUSIONS: This is the first report applying exome sequencing to identify asthma susceptibility variants. Despite having sequenced only one family segregating asthma, we have identified several potentially functional variants in interesting asthma candidate genes. This will provide the basis for future work in which more families will be sequenced to identify variants across families that cluster within genes.


Assuntos
Asma/genética , Exoma , Estudo de Associação Genômica Ampla , Linhagem , Adolescente , Adulto , Alelos , Criança , Feminino , Predisposição Genética para Doença , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo , Polimorfismo de Nucleotídeo Único , Adulto Jovem
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