Prenatal diagnosis of cystinosis utilizing chorionic villus sampling

The prenatal diagnosis of cystinosis is currently based on the increased amount of free-cystine present in amniotic fluid cells. Amniocyte cultures must be grown for at least 2 weeks to obtain sufficient cells for such measurements. Thus, the diagnosis cannot be made until close to 20 weeks gestational age by this method. We report a case in which chorionic villi were used for direct cystine measurement resulting in the in utero diagnosis of cystinosis at 9 weeks gestational age. The diagnosis was confirmed by the study of cultured chorionic villus cells, and of the 10-week abortus.     

喜马拉雅中部药用植物的商业评估

本研究对尼泊尔全国药用植物的年产量及商业价值进行了评估.我们对尼泊尔15个地区的当地药用植物交易者(n=149)和印度的地区批发商(n=53)进行了无限制问卷调查,借以收集数据.据估计,年交易额的范围为7000～27 000t,案例年份1997～1998年的产量为14 500t.按印度主要市场的地区批发商购买价格计算,相应的年出口额估计为700～3000万美元,1997～1998年为1600万美元.约有10%的农户参与了商品化采集.低海拔生态区在产量和价值两方面均占优势;就价值而言,药草是最重要的生活型.约有36%的产量和51%的价值来自破坏性采集.有人认为,年产量和价值数据仍有可能属于保守估计.本文还简短讨论了本研究结果对喜马拉雅药用植物保护及贸易的意义.     

Can Forest-protection carbon projects improve rural livelihoods? Analysis of the Noel Kempff Mercado climate action project,Bolivia

We studied the Noel KempffMercado Climate Action Project (NKMCAP),Bolivia, to assess whether forestprotection carbon (C) projects cansignificantly benefit local people. Wehypothesized that forest protection canonly securely deliver C if significantstakeholders are meaningfully andtransparently involved, traditional orcustomary rights are recognized and theirloss compensated for, and there are directlinkages between conservation anddevelopment objective. Our researchfocused on 53 members of the communities ofFlorida, Porvenir and Piso Firme and 36secondary stakeholders. In each of thevillages we held half-day meetings withcommunity leaders, complemented bysemi-structured one-hour interviews with 5,10, and 7 families, representing 20%, 10%and 8% of each community. The long-termimpact of the NKMCAP on the localcommunities may well be positive. However,in the short run, certain sections of thelocal communities are financially poorer. Forest protection projects clearly have thepotential to sequester C, protectbiodiversity and simultaneously contributeto sustainable rural development, but ifthey really are to improve rurallivelihoods, they must be designed andimplemented carefully and participatively.     

Extraction of DNA from amniotic fluid cells for the early prenatal diagnosis of genetic disease

Ten-ml samples of amniotic fluid were taken from pregnancies being terminated at 8–14 weeks' gestation. DNA was extracted from the amniotic cells by sequential centrifugation and analysed using the polymerase chain reaction (PCR). Fifteen samples were analysed for evidence of maternal contamination using Mfd5 oligo-nucleotide primers for repeat polymorphisms. Ten amniotic fluid samples were tested for the Delta-F₅₀₈ deletion characteristic of cystic fibrosis to demonstrate a diagnostic application for the technique. In each case, DNA extracted from fetal tissue from the same pregnancy was included in the controls. In 14 of the 15 cases tested with the Mfd5 primers, both the amniotic fluid DNA and the fetal DNA showed no evidence of contaminating DNA. In one case, neither the amniotic fluid cells nor the fetal cells yielded results. In nine of the ten cases tested with the Delta-F₅₀₈ primers, the amniotic fluid cell DNA provided accurate information about the genetic status of the fetus; in the tenth, the fetal DNA failed to amplify. The results indicate that adequate DNA can be extracted from amniotic fluid from 8 weeks' gestation onward and these samples are suitable for prenatal diagnosis using PCR.     

Urban Flood Damage and Greenhouse Scenarios - The Implications for Policy: An Example from Australia

Urban flooding is often used as an illustration of the potentially adverse effects of greenhouse-induced climate change on extreme events. There is however, a paucity of studies that convert climate scenarios into changes in flood damage. This account summarises the use of modelling techniques, for three flood prone urban catchments in south eastern Australia, to assess changes to urban flood losses for the 'most wet' and 'most dry' scenarios for the year 2070. The most wet scenario indicates that annual average flood damage could increase within the range of 2.5 to 10 times, under the most dry scenario flood regimes would be similar to those experienced at present. The socio-economic scenarios based on the changes to flood losses are used to consider policy responses. It is unlikely that many local government authorities will respond because of lack of interest and because of major changes to the climate scenarios proposed over the last decade. Any response is likely to be incremental and accord with the 'no regrets' and the precautionary principle'.     

Superovulation fails to increase human blastocyst yield after uterine lavage

Uterine lavage affords the potential for non-invasive human blastocyst recovery, with obvious potential for preimplantation genetic diagnosis. In an effort to duplicate in women the multiple blastocyst recovery per cycle that can be achieved in several other species, we initiated a programme in which fertile women underwent superovulation, followed by lavage and embryo collection. We superovulated 15 fertile women, aged 21–40, in 29 cycles using one of four regimens. Insemination was by either intercourse or artificial intracervical donor insemination with cryopreserved sperm from men of proven fertility. In 28 of 29 cycles, the uterus was lavaged daily for 1, 2, or 3 days between 5 and 10 days after human chorionic gonadotropin (hCG) administration or luteinizing hormone (LH) surge. Almost total fluid volume was recovered in every lavage. There were no retained pregnancies and no complications. Surprisingly, only two morulae, one blastocyst, and four unfertilized ova were recovered. Thus, alterations in ovulation induction, insemination timing, or lavage techniques must be contemplated in order to increase the blastocyst yield and thus fulfil the potential of uterine lavage for preimplantation diagnosis.     

Early amniocentesis at 11–14 weeks' gestation for the diagnosis of fetal chromosomal abnormality—a clinical evaluation

Early arnniocentesis between 11 and 14 weeks' gestation was offered to 110 women at risk of a chromosomally abnormal fetus due to maternal age. Four were found to be unsuitable for the procedure, and 106 early amniocenteses were performed. In 102 cases, clear amniotic fluid was obtained with a single tap. There were two dry taps and two bloodstained tapis; sampling was repeated in three of these cases before 15 weeks. In the fourth case, placental biopsy was performed at 16 weeks. Thus, we were able to obtain a satisfactory sample in all but three cases(2.8 percent). Karyotyping of cells harvested from the early amniotic fluid samples was successful in all the 105 cases. Cell culture from the initial samples revealed a normal karyotype in 99 cases, two balanced translocations, two tetraploid karyotypes, and two cases of pseudomosaicism. Of the 105 pregnancies successfully sampled, there have been two losses to date (1–8 per cent). Two further patients presented with premature rupture of membranes, both pregnancies having successful outcomes. Sixty-two babies have delivered to date, with four congenital anomalies. There were no respiratory problems. Twenty-nine pregnancies are continuing without known complications, and details are not yet available on the remaining 12. The results indicate that early arnniocentesis may replace the traditional test at 15–17 weeks.