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荷兰的囊性纤维化

Cystic fibrosis in the Netherlands.

作者信息

Ten Kate L P

出版信息

Int J Epidemiol. 1977 Mar;6(1):23-34. doi: 10.1093/ije/6.1.23.

DOI:10.1093/ije/6.1.23
PMID:892965
Abstract

In the Netherlands a retrospective study of the prevalence of cystic fibrosis (CF) at birth has been performed by means of an inquiry set up among 815 medical specialists (paediatricians, lung specialists and pathologists) and by analysis of hospital admission data, death certificates and data of the national CF foundation. The study was confined to the years of birth 1961-1965. On a total of 1,239,566 live births 342 infants and children were found to have CF (1/3600). A list of all studies on the frequency of CF in Caucasian populations is presented as an appendix. A seasonal trend in the expression of the CF gene at birth (either with or without meconium ileus) was noted.

摘要

在荷兰,通过向815名医学专家(儿科医生、肺部专家和病理学家)进行询问,并分析医院入院数据、死亡证明以及国家囊性纤维化基金会的数据,开展了一项关于出生时囊性纤维化(CF)患病率的回顾性研究。该研究局限于1961年至1965年出生的年份。在总共1,239,566例活产中,发现342名婴儿和儿童患有CF(1/3600)。作为附录列出了所有关于白种人群体中CF发病率的研究。出生时CF基因表达(无论有无胎粪性肠梗阻)存在季节性趋势。

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1
Cystic fibrosis in the Netherlands.荷兰的囊性纤维化
Int J Epidemiol. 1977 Mar;6(1):23-34. doi: 10.1093/ije/6.1.23.
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Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus.携带密码子551处常见错义突变甘氨酸→天冬氨酸以及ΔF508突变的囊性纤维化患者,除胎粪性肠梗阻风险降低外,在临床上与ΔF508纯合子无法区分。
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J Cyst Fibros. 2019 May;18(3):390-395. doi: 10.1016/j.jcf.2018.10.006. Epub 2018 Oct 19.
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Hearing thresholds at high frequency in patients with cystic fibrosis: a systematic review.囊性纤维化患者的高频听力阈值:一项系统综述
Braz J Otorhinolaryngol. 2017 Jul-Aug;83(4):464-474. doi: 10.1016/j.bjorl.2016.10.006. Epub 2016 Nov 9.
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Evidence for decline in the incidence of cystic fibrosis: a 35-year observational study in Brittany, France.
囊性纤维化发病率下降的证据:法国布列塔尼地区 35 年的观察性研究。
Orphanet J Rare Dis. 2012 Mar 1;7:14. doi: 10.1186/1750-1172-7-14.
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Costs, effects, and savings of screening for cystic fibrosis gene carriers.囊性纤维化基因携带者筛查的成本、效果及节省情况。
J Epidemiol Community Health. 1998 Jul;52(7):459-67. doi: 10.1136/jech.52.7.459.
5
Incidence, population, and survival of cystic fibrosis in the UK, 1968-95. UK Cystic Fibrosis Survey Management Committee.1968 - 1995年英国囊性纤维化的发病率、人口及生存率。英国囊性纤维化调查管理委员会。
Arch Dis Child. 1997 Dec;77(6):493-6. doi: 10.1136/adc.77.6.493.
6
Validation of the determination of deltaF508 mutations of the cystic fibrosis gene in over 11 000 mouthwashes.
Hum Genet. 1996 Mar;97(3):334-6. doi: 10.1007/BF02185766.
7
Cystic fibrosis and the month of birth.囊性纤维化与出生月份。
J Med Genet. 1981 Aug;18(4):299-300. doi: 10.1136/jmg.18.4.299.
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Prevalence and survival of patients with cystic fibrosis in Northern Ireland, 1961-1971.1961 - 1971年北爱尔兰囊性纤维化患者的患病率及生存率
Ulster Med J. 1983;52(2):153-6.
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Eur J Pediatr. 1984 Nov;143(1):54-7. doi: 10.1007/BF00442749.
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