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[遗传学与公共卫生]

[Genetics and public health].

作者信息

Penchaszadeh V B

机构信息

Department of Pediatrics, Beth Israel Medical Center, New York, NY 10003.

出版信息

Bol Oficina Sanit Panam. 1993 Jul;115(1):1-11.

PMID:8373531
Abstract

In order to draw attention to the need for public health action in genetics in Latin America, the author begins by giving a brief review of congenital anomalies, including hereditary diseases and chromosomal anomalies. He notes that these defects affect at least 5% of live births in the different regions of the world, regardless of the development status or ethnic make-up of their populations. In the Region of the Americas, birth defects rank somewhere between second and fifth place among causes of death in children under 1 year of age, and account for 2% to 27% of infant mortality. It is logical to expect that these disorders will take on more relative importance as the general indicators of child health improve, as has been the case in industrialized countries. The fact that pathologies of genetic origin affect a wide range of organs and systems, are chronic, and require expensive therapy and rehabilitation means that they demand services that countries must be prepared to provide. The author proposes three general objectives for health activities regarding genetics: to minimize clinical manifestations in individuals who are born with congenital anomalies by means of adequate care at all service levels; to improve the quality of life for those individuals and their families by helping them to become involved in the normal life of their communities; and to ensure that people at high risk of conceiving children with genetic diseases receive counseling and support services so that they can exercise their right to informed reproduction. Finally, he recommends eight strategies for setting up genetic health programs with the resources available in each country.

摘要

为引起人们对拉丁美洲遗传学领域公共卫生行动必要性的关注,作者首先简要回顾了先天性异常,包括遗传性疾病和染色体异常。他指出,这些缺陷影响着世界不同地区至少5%的活产婴儿,无论其人口的发展状况或种族构成如何。在美洲地区,出生缺陷在1岁以下儿童死亡原因中排名第二至第五位,占婴儿死亡率的2%至27%。可以合理预期,随着儿童健康总体指标的改善,这些疾病的相对重要性将增加,工业化国家的情况就是如此。遗传起源的疾病会影响广泛的器官和系统,具有慢性特征,且需要昂贵的治疗和康复,这意味着它们需要各国必须准备好提供的服务。作者提出了关于遗传学健康活动的三个总体目标:通过在所有服务层面提供充分护理,将先天性异常患儿的临床表现降至最低;通过帮助他们融入社区正常生活,提高这些患儿及其家庭的生活质量;确保有生育遗传疾病患儿高风险的人群获得咨询和支持服务,以便他们能够行使知情生育的权利。最后,他推荐了八项利用各国现有资源建立遗传健康项目的策略。

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