An accessory marker derived from chromosome 20 and its co-existence with a mosaic trisomy 20 cell line

We report a 16-month-old boy with delayed psychomotor development, dysmorphic features, and failure to thrive. He had a mosaic karyotype detected prenatally: mos 46,XY/47,XY,+r(20)/47,XY,+20. After birth, the abnormal cell lines were confirmed in a number of tissues. The small ring chromosome was identified using fluorescence in situ hybridization as derived from chromosome 20. We compared our patient with previously reported cases of mosaic trisomy 20 detected prenatally and associated with an abnormal phenotype. In an attempt to characterize an r(20) syndrome, we also compared our case with two similar reports in the literature.     

Maternal Serum CA 125 for aneuploidy detection in early pregnancy

Maternal serum CA 125 levels were determined at 9–11 menstrual weeks for 26 cases of trisomy 13 (n = 4), trisomy 18 (n = 7), trisomy 21 (n = 15), and appropriate controls. There were no statistically significant differences between groups.     

Vitamins,folic acid and neural tube defects: Comments on investigations in the United States

No clear answer concerning whether multivitamin/folate supplementation prevents neural tube defects (NTDs) is provided by three studies in the United States. All these studies are occurrence in nature, no recurrence studies having been conducted. The Atlanta Birth Defects Study is subject to pronounced memory and recall biases, the length between event and interview being as long as 16 years. In a second study (Boston University), objections can be raised to certain aspects of the experimental design, and the claim that 22 per cent of women started vitamins sufficiently early after pregnancy diagnosis to influence NTD formation is suspicious. Our NICHD case control study of 541 women in California and Illinois revealed no evidence for multivitamins or folic acid preventing NTDs. U.S. public policy-makers face difficulties in applying results of recurrence or occurrence studies in high-risk areas to low-risk areas in the U.S.     

Anatomic correlates of ultrasonographic prenatal diagnosis

In utero sonographic diagnoses from forty-five malformed infants were correlated with their autopsy findings. Fifty-two malformations were diagnosed prenatally in 42 of the patients but 90 additional malformations were not. Nine sonographically diagnosed abnormalities were not confirmed at autopsy. Factors compromising sonographic diagnosis included: limited examinations, small fetal size, timing of examination, oligohydramnios, fetal position, nature of the malformation and unfamiliarity of the ultrasonographer with specific malformation syndromes. In vitro ultrasonography is an invaluable tool of diagnosing congenital malformations but has limitations.     

将高纬度地区生态系统的反馈与恢复力引入公司决策

本文讨论了在高纬度地区公司所起的作用,它被概念化为以社会和经济为媒介的生态系统,同时指出了商业环境里其他的一些重要的社会参与者.我们列举了高纬地区企业行为的三个案例并对其中各种共性进行了讨论.特别的,我们认为有必要对商业理论和实践进行革新,以使其不只是停留在社会与经济概念的组织恢复力上,而要把高纬地区的生态恢复力也包括到商业管理的目标之中.同时我们也认为区域生态系统的恢复力应该成为衡量企业可持续管理的一个有意义的指标,企业高层可以据此制定和修改企业的管理策略.最后,文章在结尾处呼吁对高纬地区内的跨国公司和国内公司的作用制定更为详细的研究议程.     

Effects of mid-trimester induced abortion on the subsequent pregnancy

The outcome of the pregnancy following (a) a mid-trimester termination of pregnancy (TOP) for fetal neural tube defect (NTD) (77 women=group 1); (b) mid-trimester TOP for fetal Down's syndrome (13 women=group 2); (c) delivery of a baby with NTD (119 women=group 3) was studied. The prenatal fetal loss was relatively high in all groups. In group 1 it was similar to that found in other studies after first trimester TOP, in group 2 it was associated with advanced maternal age and the unexpected finding in group 3 was not attributable to advanced maternal age. It is suggested that a previous NTD per se might increase the risk of fetal loss in the next pregnancy. A previous mid-trimester TOP for NTD was not associated with an increase in premature labour, small for dates babies or congenital abnormality in the next pregnancy, but there was a slight increase in the number of babies weighing less than 2500 g.     

Prenatal application of fluorescent in situ hybridization (FISH) for identification of a mosaic Y-chromosome marker,IDIC(Yp)

An amniocentesis was performed at 13.3 weeks' gestation for advanced maternal age. A mosaic sex chromosome pattern was found: of 50 cells examined, 34 had a 45,X karyotype. In 14 cells with a modal number of 46, a recognizable Y was substituted by a small non-fluorescent marker. C-banding identified the marker as an isodicentric in 12 cells. In two cells, the non-fluorescent marker appeared to be monocentric and looked like a non-fluorescent del (Yq), but could have been an isodicentric Y with inactivation of one of the centromeres. Two cells with a modal number of 47 showed two copies of the monocentric marker. Fluorescent in situ hybridization with an alpha satellite Y-specific centromeric probe confirmed the Y-chromosome origin of the markers and allowed for more accurate prenatal diagnostic information.     

The Ethics of Constrained Choice: How the Industrialization of Agriculture Impacts Farming and Farmer Behavior

The industrialization of agriculture not only alters the ways in which agricultural production occurs, but it also impacts the decisions farmers make in important ways. First, constraints created by the economic environment of farming limit what options a farmer has available to him. Second, because of the industrialization of agriculture and the resulting economic pressures it creates for farmers, the fact that decisions are constrained creates new ethical challenges for farmers. Having fewer options when faced with severe economic pressures is a very different situation for farmers than having many options available. We discuss the implications of constrained choice and show that it increases the likelihood that farmers will consider unethical behavior.     

The challenges of sustainability in mining regions: The coal mining region of Santa Catarina, Brazil

Throughout history, mining communities have invariably found themselves striving for a good quality of life and a long‐term future. In the 21st century, problems of maintaining the economic vitality of mining regions are now compounded by concerns about the biophysical integrity of the local environment. In regions of the world where the economic viability of the resource is marginal and achieving a reasonable quality of life is a daily struggle, sustainable mining may seem to be a dubious prospect at best. Yet the twin imperatives of global political forces and burgeoning environmental concerns are requiring industry, governments and other interests to re‐conceptualize the way in which mining takes place in communities. Although mining itself may not be seen as an industry that contributes to the achievement of environmental objectives, it could — with careful planning — be used as a tool to foster a more sustainable and healthier community. This argument is considered in the context of the coal mining region of Santa Catarina, Brazil.