Results from a reference laboratory for prenatal diagnosis of sickle cell disorders in Cuba

A nationwide programme for the prevention of sickle cell (SS and SC) disorders was initiated in Cuba in 1983. Couples at risk were identified by screening pregnant women and the partners of those who carry an abnormal haemoglobin, followed by genetic counselling and the offer of prenatal diagnosis. Prenatal diagnosis was performed in one laboratory, which had carried out 1068 prenatal tests for Hb SS and SC disorders by the end of 1992. The centralization of the service has permitted rapid identification and resolution of problems.     

Transverse limb reduction defects after chorion villus sampling: A retrospective Cohort study

A retrospective cohort study was performed in five Italian obstetrical centres from 1984 to 1991 in order to verify the association between chorionic villus sampling (CVS) and transverse limb reduction defects (TLRDs). TLRD rates by period of gestation at CVS were calculated, and the study's results were compared with data from the general population. Of the 3430 pregnancies for which CVS was performed, 2759 had a known outcome. The overall rate for TLRDs was 1 in 1143 CVS pregnancies, four times higher than that of the general population in Italy (1 in 4458). The rate of TLRDs was 2·9/1000 for CVS performed at 9 weeks' gestation and 1·0/1000 for CVS at 10 weeks' gestation. A scalp defect was detected in a pregnancy in which CVS was performed at 10 weeks. A high proportion of pregnancies lost to follow-up and the poor quality of the data may have affected the results. Nevertheless, our results suggest an association between CVS carried out at less than 10 weeks' gestation and TLRDs which is consistent with the findings of other studies. CVS should not be prepared at less than 10 weeks' gestation until additional evidence is obtained.     

Prenatal sonographic appearance of foramina parietalia permagna

Foramina parietalia permagna (FPP) is an extremely uncommon congenital defect, inherited as an autosomal dominant condition. Its characteristics are two symmetrical orifices in the parietal bones (not of fixed size) on both sides of the midline. This defect does not affect either the psychic or the physical development of the affected person. This paper describes the sonographic appearance of FPP in utero as an enlargement of the posterior fontanelle.     

Fetal akinesia/hypokinesia sequence: Prenatal diagnosis and intra-familial variability

Intrauterine fetal movement plays a key role in normal embryonic and fetal development (Moessinger, 1983). When movement is absent or decreased, abnormal development takes place which can be appreciated in newborns and/or fetuses with the fetal akinesia/ hypokinesia sequence. This sequence is caused by a number of heterogeneous entities which result in decreased fetal movements by the action of intrinsic or extrinsic factors. Prenatal diagnosis of the akinesia/hypokinesia sequence may be possible during the second trimester through the use of real-time ultrasonographic evaluation of fetal movement. We report a family with three consecutive affected pregnancies in which the prenatal presentation of this sequence varied. Based on the phenotypic findings of the three affected fetuses, we believe that although they superficially resemble those features found in the New–Laxova syndrome, they are probably affected with a distinctly different lethal form of akinesia/ hypokinesia transmitted in an autosomal recessive fashion.     

因果链分析与根本原因:全球国际水域评估(GIWA)方法

"全球国际水域评估"(GIWA)建立的目标是为了建立一种国际水域行动中的优先确定机制.除了评定生态系统中的环境问题的严重性外,GIWA的任务之一是分析可能解决这些问题或减轻其危害性的各种政策行动.由于这些问题本身具有的复杂性,了解其根本原因是找到有效解决途径的根本需要.GIWA提供了一个分析问题的根本原因的基本框架,这个框架是建立在对人类(直接或间接地)利用水资源时,构成人类行为的各种因素的辨识之上.本文中分析了两类因素.第一类包括社会协调机制(制度),这些机制中的错误会直接导致资源的浪费;第二类因素本身并不造成资源的浪费(如贫困、贸易、人口增长、技术),但是会暴露、加剧第一类因素造成的危害.事实表明,对于特定的事件,如果没有对造成环境恶化的各种成因作用和相互作用的具体方式进行分析,而只对其一般原因(如贫困或贸易)做简单的判断将有可能忽视一些重要的联系,而这些联系有可能影响政策的有效实施.以下以科罗拉多河三角洲为例对因果链式分析法进行阐述.     

PCBs and HCHs in a salt-marsh sediment record from South-Central Chile: use of tsunami signatures and 137Cs fallout as temporal markers

This paper documents the occurrence of polychlorinated biphenyl (PCB) and hexachlorocyclohexane (HCH) deposition inferred from a sedimentary record exposed in a salt-marsh trench in South-Central Chile. Sediments were carefully collected every 1 cm from the trench wall. The samples were analyzed for PCBs, HCHs, 137Cs, organic carbon and grain size. The 137Cs fallout and the sedimentary signature left by the 1960 Chilean tsunami were used as temporal markers to estimate the stratigraphic chronology and the sedimentation rates. PCBs were quantified by gas chromatography with electron capture detection (GC-ECD), and positive samples were confirmed by gas chromatography and mass spectrometry detection (GC-MS). Based on these results, PCBs and HCHs deposition over the last 40 years was estimated. No PCBs were detected below the tsunami signature. Total concentrations ranged from undetectable (ND) to 32 ng/g d.w. for PCBs and from undetectable (ND) to 1.29 ng/g d.w. for HCHs. The highest PCB concentrations were found in the upper 7 cm of the core. Even though PCBs were banned in 1982 as electrical fluids in Chile, total estimated PCB fluxes have increased approximately 20 times during the last 40 years: from undetectable values to 102.6 ng/cm2/year, reflecting that PCBs are still in use and being released into the environment.     

Analysis of a deep well recharge experiment by calibrating a reactive transport model with field data

This paper describes the modeling of the hydrogeochemical effects of deep well recharge of oxic water into an anoxic pyrite-bearing aquifer. Kinetic expressions have been used for mineral dissolution-precipitation rates and organic matter oxidation. Hydrological and chemical parameters of the model were calibrated to field measurements. The results showed that oxidation of pyrite (FeS(2)) and, to a lesser extent, organic matter dominate the changes in quality of the recharged water during its passage through the aquifer. The recharge leads to the consumption of oxygen and nitrate and the formation of sulfate and ferrihydrite. Complexation reactions, cation exchange and precipitation and dissolution of calcite, siderite and rhodochrosite were also identified through the modeling. Despite problems of non-uniqueness of the calibrated parameters, the model was used successfully to depict the geochemical processes occurring in the aquifer. Non-uniqueness can be avoided by constraining the model as much as possible to measurements and/or data from literature, although they cannot be considered always as fixed values and should be considered as stochastic variables instead.     

Pesticides in the surface waters of the Camanducaia River watershed,Brazil

Abstract

Camanducaia River is part of the Piracicaba watershed responsible for pumping water into the Cantareira System, which is one of the main water sources for the metropolis of São Paulo and Campinas, Brazil. Intensive use of pesticides and hilly topography represents a situation of high risk for river water contamination. Therefore, water samples from 12 locations were collected along the Camanducaia River and its tributaries, over a period of 4?mo during the rainy season, and analyzed by GC-MS/MS or UPLC- MS/MS for the presence of 46 pesticides. Seven pesticides (fipronil, methyl parathion, metolachlor, atrazine, carbofuran, diuron, and simazine) were positively detected. Only atrazine (the most frequently detected) and diuron were present at concentrations above the limit of quantification of the analytical method (0.32 and 0.57?μg L^?1 for atrazine and diuron, respectively). Pesticides detection frequency was higher than expected for a river system where only 11.8% of the land area is under agriculture. The vulnerability of the Camanducaia basin to pesticide contamination is attributed to the high annual precipitation (> 1.5?m y^?1 in the headwaters), associated with topographical features (steep terrain) and soil types that favor surface runoff, which has been exacerbated by poor soil management practices.     

Small but smart: the interaction between environmental cues and internal state modulates host-patch exploitation in a parasitic wasp

The reproductive success of insect parasitoids depends on two activities, searching for hosts to obtain immediate fitness rewards (offspring) and searching for food to extend life span and enhance future reproductive opportunities. Models suggest that to deal with this trade-off and to cope with the variability of the resources they depend on, parasitoids should simultaneously integrate information originating from three distinct sources: host and food availabilities in the environment (environmental information) and the metabolic reserves of the parasitoid (internal information). We tested whether, in the parasitic wasp Venturia canescens, these three types of information are perceived simultaneously and interact during host-patch exploitation. Experiments were performed with strains originating from two different geographical locations and with individuals of the two reproductive modes, arrhenotoky and thelytoky. We hypothesised that there would be differences between modes of reproduction as they thrive in different ecological conditions. Our results show that metabolic state, food availability and the number of ovipositions performed simultaneously modulate patch residence time in V. canescens of both populations and reproductive modes. Unfed wasps left their host patch earlier than fed ones. The tendency to leave the patch increased with an increasing probability of finding food. Our study confirms that globally, each oviposition increases the patch-leaving tendency (decremental mechanism). This effect was modulated by both the metabolic reserves and food availability, and the relationship depended on the geographic origin of populations. Individuals of one of the populations switched from a decremental to an incremental patch-leaving mechanism depending on the presence or absence of food in the vicinity. Differences between reproductive modes in the responses to environmental cues can be explained by the different ecological conditions they live in.