Carrier detection and microsatellite analysis of duchenne and becker muscular dystrophy in spanish families

Duchenne and Becker muscular dystrophy (D/BMD) are usually problematical when trying to determine the carrier status of at-risk women, which usually has to be based on haplotype or dosage analysis on Southern blots. Using multiplex polymerase chain reaction (PCR) analysis, we have detected deletions in 20 out of 44 D/BMD families with living affected members (45·5 per cent), more often in sporadic cases of DMD (14/22 with detectable deletion) than in familial ones (4/15), the majority (15/20) occurring in the distal region of the D/BMD gene. Four highly informative short tandem repeat polymorphisms (STRPs), which lie within the distal deletion hot spot of the D/BMD gene, can show loss of heterozygosity in carrier females, providing direct evidence of their carrier status. These STRPs greatly improve informativity, with a combined heterozygosity of 100 per cent and with the majority of families informative for three of the four STRPs. In 14/15 (93 per cent) of the families with distal deletions, the STRPs provided direct information on carrier status, and in some cases, they provide valuable information on recombination breakpoints and non-paternity.     

First trimester diagnosis of β-thalassaemia in a twin pregnancy

This paper reports the results of first trimester prenatal diagnosis in a twin pregnancy at risk for homozygous β°−thalassaemia (β°−39 mutant). Trophoblast samples from both twins were obtained at 10 weeks gestation with a forceps guided by ultrasound. Trophoblast DNA analysis, carried out with the oligonucleotide technique, revealed that one fetus was homozygous and the other heterozygous for the β−39 mutant. This diagnosis was confirmed at 17 weeks gestation by amniocyte DNA analysis. DNA polymorphism analysis within the α-globin gene provided useful genetic markers for twin differentiation.     

水环境:巴西大西洋流域盆地的人为压力和生态系统变化

发展中国家中正面临经济发展挑战的那些人口密集的流域盆地和海岸带地区可能会在各种问题上受到中度或严重的环境影响.这些由巴西东北部至南部流向大西洋海岸的汇水盆地包括广阔的气候带和多种生态系统.盆地边界以内分布着大西洋雨林、大范围的半干旱热带旱生林(caatinga)、广阔的树木及灌木林地(cerrado)、巴西6670km 海岸线的一大部分及其海洋生态系统.在过去的几十年中,这些自然资源上的人类活动不断发展.海滨化已给沿海生境及生物群落造成了沉重的负担.caatinga和cerrado中的大部分原生植被遭到了破坏,仅存留了7%的大西洋原始雨林.河口、海湾和沿海泻湖也遭到了无法恢复的破坏.土地使用、筑坝和分水等活动已成为造成生境丧失和水生生态系统改变的主要原因.尽管巴西东北部地区的干旱和东南部及南部地区的富庶和工业化之间形成明显反差,但给上述两种地区的生境和生物群落造成的影响是同样严重的.阻止环境恶化的努力没有见到效果.为此建议,应该实行将重点集中在水生生态系统完整性的一些更加综合性的环境政策,而不是把重点单独地集中在自然资源上.     

耕作农场决策的环境和经济影响:一种综合建模方法

本文研究了耕作农场中自然环境和人类起源系统的相互依赖关系.动态模拟模型的方法论起源于环境系统分析和微型模拟的建模传统.这个模型复制了自然流(例如能源、原料、排放、产品)、作为决策者的农场主以及影响农场的结构状况之间的相互连接.运行模型的目的是为了回答:价格、津贴、农场主的环境观及其生产配置选择的能力的差别对盈利和环境的影响(例如温室气体的影响、富营养化、酸化和能源消耗)是什么?模型模拟的结果说明,例如,就经济表现而言,农场主可以从两个相对可持续的战略中选择,或者专注于有机生产(从而从更高津贴和输出价格中受益),或者专注于常规的耕作并使用杀虫剂和化肥(从而通过大量生产获益).关于环境影响,由于分配肥料使用的困难,因此在有机农业和常规农业之间没有明确的区别.这个发现本质上是和系统边界的选择相关的,文章对于系统边界也作了彻底充分的讨论.     

Screening maternal serum alpha-fetoprotein levels and human parvovirus antibodies

The association between gestational infection with human parvovirus (B19) and fetal loss has increased interest in this virus and demand for diagnostic testing. However, serological assays for B19 are not yet widely available. Maternal serum alpha-fetoprotein (MSAFP) testing is commonly used during the second trimester to screen for various fetal defects. We attempted to determine whether an elevated level of MSAFP would be an appropriate indication for B19-specific tests. Over a 26-month period, MSAFP tests were performed at Michigan State University for 21 392 women. Sera remaining after that testing were stored frozen. Of these, 22 case samples—from women with MSAFP levels greater than 3·0 multiples of the median (MOM) and pregnancies that ended in fetal loss—and 44 matched control samples—from women with MSAFP levels greater than 0·4 and less than 2·2 MOM and live births at term—were tested for B19 antibodies. None of the 66 samples was IgM positive, while 33 (50 per cent) were IgG positive. The presence of IgG was not significantly associated with case or control status (matched odds ratio=0·77, 95 per cent confidence interval 0·28–2·11). These findings are consistent with other studies indicating prior infection in approximately half of adults and suggest that elevated screening MSAFP levels, in the absence of other evidence of B19 infection, should not prompt B19-specific testing.     

Prenatal diagnosis of dyssegmental dwarfism

Fetal ultrasound evaluations at 18 weeks gestation on two consecutive pregnancies of a woman who previously gave birth to a stillborn female affected with dyssegmental dwarfism, resulted in accurate diagnoses of unaffected and affected fetuses. Marked disorganization of vertebral bodies and associated encephalocele found in two affected cases in this family are consistent with the original observation of this new syndrome as two major aspects which differentiate it from other forms of lethal dwarfism.     

Long-term variation in surface ozone and its precursors in Athens,Greece

INTENTION, GOAL, SCOPE, BACKGROUND: Photochemical pollution is a very complex process involving meteorological, topographic, emission and chemical parameters. The most important chemical mechanisms involved in the atmospheric process have already been identified and studied. However, many unknown parameters still exist because of the large number of participating chemical reactions. OBJECTIVE: The present study investigates the processes involved in the photochemical pollution effect of an urban station located in the greater area of the Athens basin and gives a plausible explanation for the different seasonal ozone development between that station and another rural one. Furthermore, the distribution of the mean monthly surface ozone observed at the urban station during 1987-2001 is examined in order to create a relevant forecasting tool. METHODS: Averaged hourly data of O3 and NOx observations monitored at the above mentioned stations, during 1987-2001, have been used in order to derive the daytime (7:00-15:00) values. Trajectories calculated by using a 2D-trajectory code and meteorological data, during the period 1988-1996, have also been used. RESULTS AND DISCUSSION: At the urban station, the percentage negative trend of NO and NOx data in winter and summer is higher than that in spring and autumn, while the percentage ozone trend is maximum in the summer. On the contrary, the negative surface ozone trend at the rural station exhibits a minimum in summer and a maximum in autumn and winter. The mean seasonal wind-rose for the selected months shows that the northward wind flow dominates during June, the month of the lowest negative ozone trend in the rural station. Finally, the development of the forecasting tool shows that the mean monthly surface ozone data during the period (1987-2001) demonstrates a semi-log distribution. CONCLUSIONS: Air transport effect on the air pollution of the rural station (not blocked by mountains) is deduced as a possible reason for the different seasonal ozone development observed between the rural and the urban station. Finally, the discrepancies between the theoretical probabilities deduced by the model and the empirical ones appear to be very small, and the corresponding correlation coefficient is 0.99. RECOMMENDATION AND OUTLOOK: However, to interpret the aforementioned statistical results about the negative trends in ozone and its precursors, additional parameters can be taken into account. Changes in NOx concentrations, for instance, can result not only from changes in emissions or meteorological conditions. There might also be a contribution through changes in the atmospheric composition. A study of the contribution of changes in atmospheric composition to trends of observed NOx concentrations requires that a series of steps be taken (removal of meteorological influence in the time series, calculation of trends in OH concentrations, etc.).