Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a potentially fatal inherited disease with a carrier frequency of approximately 1:100 in most Caucasian populations. The disease is implicated in sudden unexpected death in childhood. A prevalent disease-causing point mutation (A985G) in the MCAD gene has been characterized, thus rendering diagnosis easy in the majority of cases. Since the clinical spectrum of MCAD deficiency ranges from death in the first days of life to an asymptomatic life, there are probably other genetic factors—in addition to MCAD mutations—involved in the expression of the disease. Thus, families who have experienced the death of a child from MCAD deficiency might have an increased risk of a seriously affected subsequent child. In such a family we have therefore performed a prenatal diagnosis on a chorionic villus sample by a highly specific and sensitive polymerase chain reaction (PCR) assay for the G985 mutation. The analysis was positive and resulted in abortion. We verified the diagnosis by direct analysis on blood spots and other tissue material from the aborted fetus and from family members.     

Maternal serum inhibin levels in second-trimester down's syndrome pregnancies

Maternal serum inhibin levels were measured in 19 second-trimester pregnancies affected by fetal Down's syndrome and 95 unaffected control pregnancies matched for gestational age. A statistically significant elevation was found in the affected pregnancies compared with the controls (Wilcoxon rank sum test: one-tail P=0·02). The median level in the cases was 1·3 times that in the controls, with 95 per cent confidence limits of 0·9–1·9. Although the inhibin levels were unrelated to those of alpha-fetoprotein and unconjugated oestriol in the same samples, there was a statistically significant correlation with human chorionic gonadotropin. This together with the relatively small elevation in cases suggests that inhibin would be of limited value in maternal serum screening for Down's syndrome.     

国外包装废物的处理技术动向

在欧、美、日等西方国家，废包装材料已成为主要的固体废物之一，其环境污染问题日益受到关注。本文较全面地介绍废包装材料的填埋、焚烧、循环回用、再资源化利用和减少使用包装材料等五种重要技术动击与途径。还重点介绍了美国的ＰＥＴ瓶的资源再利用，以及德国建立严格的包装废物法规和完善的处理系统的概况。     

Iniencephaly is not uniformly fatal

Iniencephaly is an uncommon, but not rare, lesion involving a fusion between the posterior occipital bone and the cervical spine. Many cases are associated with other cranio-cervical abnormalities and anencephaly, and most are associated with other structural abnormalities. The prognosis is thought to be dismal. We describe a male infant, one of twins, who was diagnosed prenatally as having iniencephaly. The child was born without complication and has grown and thrived. This is the fourth patient with long-term survival with iniencephaly. We recommend that non-directive counselling be applied when presenting the findings of iniencephaly to parents.     

Sonographic diagnosis of cystic adenomatoid malformation in-utero

Routine ultrasound examination at 30 weeks gestation revealed an intrapulmonary cystic mass in an otherwise normal fetus. Following delivery at term, the diagnosis of congenital cystic adenomatoid malformation of the right lung was confirmed, and an elective right middle lobectomy successfully performed at nine days of age.     

Recurrence risk of neural tube defects following a miscarriage

Data from 280 sibships in three published series were used to see if the increased risk of neural tube defect (NTD) associated with having had a miscarriage in the immediately preceding pregnancy was also found in women with a previous affected pregnancy. A statistically significant relative risk of 4.0 (2-tail P=0.0111, Fisher exact test) was found among such women, and this could not be accounted for by the effect of parity or of a history of miscarriage in general. The finding may be useful when counselling patients.     

遥感技术和地理信息系统在军队环保中应用前景分析

遥感技术具有信息采集的快速性、连续性、动态性等多方面的优点,并通过地理信息系统将信息直观、快速地反映上来,这里通过对地理信息系统和遥感技术的介绍,使人们了解他们能够为环境保护领域提供环境管理、环境监测、环境治理的动态基础数据和科学决策得依据,同时分析了地理信息系统和遥感技术在环境保护中的优越性和在军队环境保护工作中的应用前景.     

日本企业的环境责任

上世纪90年代初期，日本的许多企业都未将环境管理、指标、社会责任等纳入企业成本、运营和规划中，他们认为这会给企业带来负担。也无必要，这种情形与现阶段的中国企业有着非常类似的“价值取向”，我们希望这篇文章能给中国的同行们带来一些思考和借鉴，从而使得我们的企业更绿，环境更清洁，社会更可持续。[编者按]     

在江苏省开展建设工程第三方环境监理的思考

目前国内部分省市已陆续开展建设工程环境监理的试点工作，并取得一些好的经验。本文通过分析开展第三方环境监理工作的必要性和国内几家试点工作的进展情况，提出了在江苏省开展建设工程第三方环境监理工作的对策。