Prenatal sonographic diagnosis of autosomal recessive polycystic kidney disease (arpkd) during the early second trimester

Autosomal recessive polycystic kidney disease (ARPKD) is a rare hereditary disease with a high neonatal mortality. Currently, prenatal diagnosis is possible only during the second half of pregnancy, when bilaterally enlarged, echogenic kidneys are visible by ultrasound. We describe a case in which a diagnosis of ARPKD was sought in the first half of pregnancy. High-resolution ultrasonography revealed echogenic, normal-sized kidneys at 15+4 weeks. Microsatellite DNA analysis of a chorionic villus sample, parental blood, and blood of an affected sibling showed that the fetus had the maternal haplotype and a recombination of the paternal haplotype. Thus, no distinction between homo- and heterozygosity for the ARPKD mutation in the fetus was possible. A further ultrasound examination at 19+4 weeks confirmed the previous results, indicating that the fetus was likely to be affected. After termination of the pregnancy, the diagnosis was confirmed on microscopic examination.     

硒元素与健康

硒是人类生命活动所必需的微量元素.文章从硒的存在状态和分布特点,以及硒的生物效应与生命健康的关系等方面,对硒与人类生命活动的影响进行了探讨,以达到对硒元素较全面的认识.     

国外有机农业的病虫草害防治

介绍了国外有机农业的病虫草害防治原理和技术，这些措施包括选用优良品种，多样化种植，合理轮作。使用微生物制剂及某些无机杀菌剂，物理和生物防治等，为我国有机农业和有机食品的生产提供参考。     

Unexpected ultrasonographic prenatal diagnosis of autosomal dominant polycystic kidney disease

The prenatal diagnosis of autosomal dominant polycystic kidney disease (ADPKD) is now being reported with increasing frequency. We report three cases and review 12 cases of ADPKD diagnosed in the fetus by ultrasonographic findings. Increased echogenicity and renal enlargement are the main ultrasonographic signs of ADPKD. Renal cysts are uncommon. Diagnosis is easy in a family with a positive ADPKD history. Conversely, there may be no apparent family history, as in our three cases and three cases from the literature. We consider the problems of unexpected diagnosis, family investigation, and the prognosis of ADPKD in children with prenatally diagnosable forms.     

城市主要大气污染物与呼吸系统疾病相关性浅析

根据监测资料得出，杭州市区大气中瓢法，二氧化硫、氮氧化物等浓度逐年略有上升的趋势。根据相同年份病谱分析，死于呼吸系统疾病的人数也相应增加，即呈正相关，其中，二氧化硫影响较大，提出了防治大气中二氧化硫污染的对策。     

隐孢子虫病及其水媒传播控制

综述了隐孢子虫和隐孢子虫病的特性，症状和传播途径，水媒传播的重要案列及其为水工业和水源保护带来的启示。介绍了隐孢子虫的检测方法和相应水质指标的研究现状；给水工业中控制隐孢子虫病传播的主要手段。     

Radiographic,haematological, and biochemical findings in a fetus with Caffey disease

An early case of prenatal Caffey disease is reported. Ultrasound examination performed at 20 weeks showed major angulations of long bones, but both ultrasound scan and X-rays failed to make the differential diagnosis between Caffey disease and lethal osteogenesis imperfecta. A cordocentesis allowed us to find important biological abnormalities. The pregnancy was terminated after the rapid development of hydrops fetalis. The definitive diagnosis of Caffey disease was obtained by special X-ray and pathological study.     

Krabbe's disease: First trimester diagnosis confirmed on cultured amniotic fluid cells and fetal tissues

Chorionic villi obtained during the first trimester from a pregnancy at risk for Krabbe's disease were shown to have reduced cerebroside-β-galactosidase (E.C. 3.2.1.46) activity using the artificial substrate trinitrophenylaminolauryl galactocerebroside (TNPAL-galactocerebroside). Assay of this enzyme in cultured amniotic fluid cells following amniocentesis, performed at the patient's request confirmed the diagnosis. Termination of pregnancy was performed and subsequent enzyme studies of the fetal tissues were consistent with the diagnosis of Krabbe's disease, thus confirming that chorionic villi can be used for first trimester diagnosis of this condition.     

Short communications prenatal detection of the autosomal recessive type of polycystic kidney disease by trehalase assay in amniotic fluid

We report relatively high trehalase activity in amniotic fluid of a fetus affected with the autosomal recessive type of polycystic kidney disease (type II), suggesting that prenatal detection of this condition could be done on this basis in conjunction with ultrasonography.