Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata,ichthyosis, and Kallmann syndrome due to an Xp deletion

We report the prenatal diagnosis of a male fetus with X-linked recessive chondrodysplasia punctata (CDPX), steroid sulphatase (STS) deficiency, X-linked Kallmann syndrome (KAL), and a chromosome deletion at Xp22.31. Biochemical analysis of bone from this case indicates that CDPX is not a defect of vitamin K metabolism. Immunocytochemical study of the brain suggests that KAL is a defect in neuronal migration.     

Prenatal diagnosis of citrullinemia: Elevated levels of citrulline in the amniotic fluid in the three affected pregnancies

In three pregnancies at risk for citrullinemia affected fetuses were predicted both by strongly increased levels of citrulline in the amniotic fluid and by the reduced incorporation of ¹⁴C-citrulline into TCA-precipitable material in cultured amniotic fluid cells. The prenatal diagnoses of affected fetuses were confirmed after termination of the pregnancies by direct and indirect assays of argininosuccinate synthetase in the fetal livers and fibroblasts respectively. Measurement of the citrulline concentration in amniotic fluid appears to be a valuable adjunct in the prenatal diagnosis of citrullinemia.     

辽宁黄海沿岸水域增养殖贝类病害发生机理和防治对策

辽宁黄海水域增养殖贝类的大面积死亡，严重制约了这一产业的可持续发展，本文根据国内外的最新研究成果，探讨了这一海域增养殖贝类病害发生与全球气候异常、养殖环境质量降低、超养殖容量、养殖贝类遗传质量降低、生物学性状差异等的关系。     

Prenatal diagnosis of purine nucleoside phosphorylase deficiency in the first and second trimesters of pregnancy

Prenatal diagnosis was performed in two successive pregnancies of a mother with a previous child with purine nucleoside phosphorylase (PNP) deficiency. In one pregnancy, an affected fetus was diagnosed in the 18th week of gestation after the demonstration of PNP deficiency in cultured amniotic fluid cells. Also an abnormal purine nucleoside profile was found in the amniotic fluid. The diagnosis of an affected fetus was confirmed by the analysis of cultured fetal skin fibroblasts and placental villi. The complete deficiency of PNP activity in placental villi confirms that the prenatal diagnosis of this disorder is possible by the direct investigation of chorionic villi. In the subsequent pregnancy, a heterozygous fetus was predicted in the tenth week of pregnancy by using chorionic villi.     

泥鳅的网箱养殖及常见病害防治技术

网箱养泥鳅是一种高产高效，极具发展前景的养殖新模式．介绍了网箱养鳅的技术要点以及泥鳅常见疾病的防治方法．     

The illusion of environmental iodine deficiency

The distribution of endemic goitre in England and Wales was compared with the distribution of environmental iodine (atmospheric deposition, soil, surface water). Despite a very clear goitre belt through the west of England and Wales there was no patterning in the environmental iodine distribution. A clear seasonal variation in depositional iodine exists, with an unusually high concentration of iodine in March 1997. The temporal variation in iodine concentration is determined at the monthly and not the annual level. The presence of endemic goitre is no indicator of how iodine is distributed in the environment or vice versa!     

Geochemical Environment and Health Problems in China

China is a very large developing country covering vast territories and having a complex natural environment. It has an enormous population and numerous endemic diseases. The total population of China is 14 x 10(8) of which 3 x 10(3) live in endemic disease-affected areas and 0.48 x 10(3) suffer from these diseases. The distribution of the endemic diseases has obvious geographical characteristics. Among the most harmful and widely distributed of the endemic diseases are Kaschin-Beck disease, Keshan disease, iodine deficiency, endemic fluorosis and hepatic carcinoma. The geographical environments have a close relationship to endemic diseases and are influenced by climate, geology, landform, soil, food and drinking water. Drinking water is the key issue, since polluted water, or water lacking in or having an excess of certain minerals and elements, as well as water containing certain organic components, has been shown to be harmful to human health. Research has shown that some diseases can be reduced or eliminated by paying attention to the way drinking water is obtained, as well as by improving the nutritional values of the food by eliminating negative components. Fifty years of research has already gone into this subject and there is still much research to be done. This paper puts forth a model of health problems related to geographical environment and the importance of continued research in this field.     

Tissue distribution of absorbed humic acids

Distribution of humic acids (HA) in rats was studied using radioiodinated HA injected intraperitoneally. Distribution of ¹²⁵I was also studied for comparison. The distribution pattern of HA differed greatly from that of ¹²⁵I. Except in the thyroid and skin, ¹²⁵I was excreted from the body within 24 hours, whereas a large proportion of HA remained in the liver, kidney, skin, thyroid, bone and muscle. The difference in the distribution pattern and organ/serum radioactivity ratio suggests different kinetics for ¹²⁵I and ¹²⁵I-HA. The distribution pattern of HA correlated very well with the increased prevalences of organ diseases in the blackfoot disease endemic area, as reflected in epidemiologic studies. It is hypothesised that HA-metal complexes are possible etiological factors of diseases such as goitre, hepatoma, bladder cancer, vascular disease and diabetes mellitus, and that free radicals are the common causative factor.     

The Impact of the Hyperacid Ijen Crater Lake. Part II: A Total Diet Study

In Asembagus (East Java, Indonesia), surface water is contaminated with effluent from the hyperacid Ijen Crater Lake. In a previous study, we reported that food crops irrigated with this water had increased concentrations of various elements. Here, we present a total diet study for adults and 6-year-old children to determine if the mean daily intake of a broad range of elements is safe and adequate. For children, the intake of B, Mg, Mn and V is high with Hazard Quotients (HQ) of 1.1 (B), 1.4 (Mn) and 1.4 (V), respectively (no TDI is available for Mg). For Mn, the daily intake is high due to the consumption of locally produced rice. Drinking water is the main source of B, Mg and V. For adults, the intake of Mg, Mn and V is also high but HQ values are ≤0.7. For both children and adults, the intake of Ca, Zn and particularly Fe is below the RNI (Fe intake is 90% below the RNI for women). It is concluded the mean intake of elements is unbalanced and Fe deficiency is probably the most serious health problem. Toxic effects cannot be fully excluded since deficiency of essential elements such as Ca, Fe and Zn can increase the absorption and retention of various elements.     

Historical Evidence of Widespread Chytrid Infection in North American Amphibian Populations

Abstract:  Emerging infectious diseases may be contributing to the global decline of amphibian populations. In particular, chytridiomycosis, a cutaneous fungal infection of amphibians caused by the chytrid Batrachochytrium dendrobatidis , gained attention in the 1990s as an apparently new pathogen. This fungus has been implicated as the causative agent of widespread mortalities among wild amphibians in geographically disparate parts of the world. To investigate the global distribution, historical occurrence, and infectiousness of this pathogen, we examined 3371 postmetamorphic and adult amphibians collected between 1895 and 2001 from 25 countries for the presence of chytrid fungi in the epidermis. Cutaneous chytrid infection was diagnosed in 383 of 2931 (13.1%) specimens of 12 common amphibian species from five Canadian provinces and seven American states, including 30 of 69 locations examined in the St. Lawrence River Valley of Québec. Chytrids were observed in 7.0% (46/655) of the adults collected in the 1960s, the earliest cases being two green frogs (  Rana clamitans ) collected in 1961 from Saint-Pierre-de-Wakefield, Québec. In recent studies, morbidity and mortality attributable to chytridiomycosis were not observed in infected amphibians from Québec despite a 17.8% (302/1698) prevalence of chytrid infection during the period 1990–2001. The prevalence of infection during this latter period was not statistically different when compared with the period 1960–1969. Epidermal chytrid infections were not observed in 440 amphibians examined from 23 other countries. In light of the fact that infection by B. dendrobatidis is widely distributed and apparently enzootic in seemingly healthy amphibians from eastern North America, lethal outbreaks of chytridiomycosis among amphibian populations appear to have complex causes and may be the result of underlying predisposing factors.