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巴拉圭的医学遗传学

Medical genetics in Paraguay.

作者信息

Ascurra de Duarte Marta

机构信息

Instituto de Investigaciones en Ciencias de la Salud, Asunción, Paraguay.

出版信息

Community Genet. 2004;7(2-3):146-9. doi: 10.1159/000080786.

DOI:10.1159/000080786
PMID:15539832
Abstract

Paraguay is a developing country with low levels of health coverage, with 81% of the population without health insurance, a proportion that reaches 98.1% among the poor, 93% among the rural population and 91.7% among the mainly Guarani-speaking population. The infant mortality rate is 19.4 per 1,000, although there is gross under-reporting. Maternal mortality rate is alarmingly high at 110.9 per 100,000 livebirths, reaching 420.5 in rural areas. There are only two clinical geneticists and four biochemists trained in human genetics, and virtually all genetic services in the country are concentrated in the 'Instituto de Investigaciones en Ciencias de la Salud' (IICS) from the National University. The teaching of medical genetics in medical schools is included in physiology and pathology courses, while at the postgraduate level, training in medical genetics is limited to pediatrics and gynecology. In 1999, a pilot newborn screening program was initiated to determine the frequency of congenital hypothyroidism and phenylketonuria and to provide early treatment for affected babies. Another pilot project recently launched by the Ministry of Health is the Program for the Prevention of Neural Tube Defects, mandating folic acid fortification of flour, but as of the end of 2003 it had not been implemented. Paraguay lacks adequate resources to provide accurate diagnoses and treatment of genetic conditions.

摘要

巴拉圭是一个医疗覆盖水平较低的发展中国家,81%的人口没有医疗保险,在贫困人口中这一比例达到98.1%,农村人口中为93%,在主要讲瓜拉尼语的人口中为91.7%。婴儿死亡率为每1000人中有19.4人,不过存在严重瞒报情况。孕产妇死亡率高得惊人,每10万例活产中有110.9人死亡,在农村地区这一数字达到420.5。该国仅有两名临床遗传学家和四名接受过人类遗传学培训的生物化学家,国内几乎所有的遗传服务都集中在国立大学的“健康科学研究所”(IICS)。医学院校的医学遗传学教学包含在生理学和病理学课程中,而在研究生阶段,医学遗传学培训仅限于儿科学和妇科学。1999年启动了一项新生儿筛查试点项目,以确定先天性甲状腺功能减退症和苯丙酮尿症的发病率,并为患病婴儿提供早期治疗。卫生部最近启动的另一个试点项目是预防神经管缺陷项目,规定对面粉进行叶酸强化,但截至2003年底该项目尚未实施。巴拉圭缺乏足够资源来对遗传疾病进行准确诊断和治疗。

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引用本文的文献

1
Medical genetics in paraguay.巴拉圭的医学遗传学
Mol Genet Genomic Med. 2014 Nov;2(6):458-66. doi: 10.1002/mgg3.119. Epub 2014 Nov 3.