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Causes of death and early life determinants of survival in homozygous sickle cell disease: The Jamaican cohort study from birth

机译:纯属镰状细胞病中存活的死亡和早期生命决定因素:牙买加队队伍出生

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Globally, the majority of persons born with sickle cell disease do not have access to hydroxyurea or more expensive interventions. The objectives were to estimate the survival in homozygous sickle cell disease, unbiased by symptomatic selection and to ascertain the causes of death in a pre-hydroxyurea population. The utility of early life biomarkers and genetically determined phenotypes to predict survival was assessed. A cohort study based on neonatal diagnosis was undertaken at the Sickle Cell Unit, a specialist clinic delivering care to persons with sickle cell disease in Jamaica. Screening of 100,000 deliveries detected 315 babies with homozygous sickle cell disease of whom 311 have been followed from birth for periods up to 43 years. Pneumococcal prophylaxis and teaching mothers splenic palpation were important, inexpensive interventions. Anticipatory guidance, routine care and out-patient acute care were provided. Each participant was classified as alive, dead, or defaulted (usually emigration). Causes of death were ascertained from clinical records and/or post-mortem reports. Survival was assessed using the Kaplan-Meier function. Sex-adjusted Cox semi-parametric proportional hazards and Weibull modelling were used to assess the effects on survival of biomarkers.
机译:在全球范围内,镰状细胞疾病出生的大多数人都无法获得羟基脲或更昂贵的干预措施。目的是估计纯合镰状细胞疾病的生存,通过对症选择无偏见,并确定羟基脲群中死亡的原因。评估早期生命生物标志物和转基因表型以预测存活的实用性。基于新生儿诊断的队列研究是在镰状细胞单位进行的,是牙买加镰状细胞疾病的专业诊所。筛查100,000个交付检测到315名婴儿,其纯合镰状细胞疾病,其中311次持续311次,长达43年。肺炎球菌预防和教学母亲脾触诊是重要的,廉价的干预措施。提供了预期的指导,常规护理和出患者急性护理。每个参与者都被归类为活着,死亡或违约(通常是移民)。从临床记录和/或验尸报告中确定死亡原因。使用Kaplan-Meier功能评估生存。性调整的Cox半导体比例危险和威布尔建模用于评估生物标志物存活的影响。

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