The prenatal diagnosis of the cerebro-hepato-renal syndrome of Zellweger

The prenatal diagnosis of the cerebro-hepato-renal syndrome of Zellweger (CHRS) was made by assaying the levels of very long chain fatty acids (VLCFAs) in amniotic fluid cell cultures, obtained by amniocentesis at 16 1/2 weeks of pregnancy. The family-at-risk, because they had previously borne a child with CHRS, accepted these results as indications of an affected fetus, and chose to terminate the pregnancy at 20 1/2 weeks of gestation. The diagnosis was confirned by the phenotype of the aborted fetus and the presence of markedly elevated levels of VLCFAs in fetal liver homogenates. The prenatal diagnosis of CHRS, which can now readily be determined from amniotic fluid cell cultures, is an important step in genetic counselling of families-at-risk for this disease.     

Prenatal diagnosis of a de novo complex chromosomal rearrangement involving four chromosomes

A complex chromosome rearrangement, apparently a balanced translocation involving chromosomes 4,6, 15 and 16, was found in cultured cells of amniotic fluid from a 32–year-old primigravida who requested amniocentesis for prenatal diagnosis because of a family history of mental retardation. Chromosome analysis of peripheral blood from both parents were normal. The couple was counselled for the prenatal diagnosis of this de novo complex translocation and, subsequently, elected to terminate the pregnancy. Post-mortem examination revealed a 23–week fetus with intrauterine growth retardation. The identical chromosome rearrangement was subsequently confirmed in cultured fibroblasts from skin and cord obtained from the abortus. To our knowledge, this is the first report where routine prenatal diagnosis revealed a fetus with a balanced complex chromosomal rearrangement involving four chromosomes of de novo origin.     

应对不确定性:呼吁建立新的科学政策论坛

科学界和政策界具有不同的目标,这就自然导致了对构成某种变化或现象的"检验"标准的差异,以及用不同的方法去描述不确定性和风险的持性及传达不确定性和风险.这些差异可能损害科学家、决策者和公众之间的有效沟通,同时也限制了科学家所愿意研究的社会紧迫问题的类型.本文主要回顾了一系列处理不确定性问题的方法,阐述了当科学和政策不能很好协调时所可能引起的一些错误.并在此基础上,特别针对解决不确定性问题提出了一些具体建议,包括重构科学规范,建立由科学、政策两方面领导广泛参加的科学政策论坛.     

Directions in Conservation Biology: Comments on Caughley

The recent review by Caughley (1994) on approaches used in conservation biology suggested that there are two: the small population paradigm and the declining population paradigm. We believe that this division is overly simplistic and that it should not be perpetuated. Both the deterministic factors that reduce population size and the stochastic factors that lead to the final extinction of a small population are critical to consider in preventing extinction. Only through an overall and comprehensive effort, which we call inclusive population viability analysis, can extinction processes be understood and mitigated. In this context we discuss Caughley's comments about genetics, demography, and general population viability, with particular attention to cheetahs (Acinonyx jubatus) and Pacific salmon (Oncorhynchus sp. ) .     

Persistence of carbofuran in marine sand and water

Marine sand and seawater samples were collected in March 2002 from Laysan Island in the Hawaiian Islands National Wildlife Refuge, where a small area was contaminated by the carbamate insecticide carbofuran. Carbofuran was still detected at microg g(-1) levels in the Laysan sand after its identification in 1998 and initial observation of the toxicity in 1988. The persistence of carbofuran in the marine sand was investigated in the dark in a 30 degrees C oven, and in distilled deionized water and seawater samples exposed to artificial 300 nm light and to direct sunlight. The laboratory study showed a half-life (t1/2) of approximately 40 days for carbofuran in the native sand and in Ottawa sand. The photolysis of carbofuran was faster in seawater than in distilled deionized water when it was exposed to 300 nm light (t1/2, 0.1 vs. 3.1 h) and to direct sunlight (t1/2, 7.5 vs. 41.6 h). The large difference between the laboratory results and the field observation of carbofuran dissipation suggests that carbofuran degradation at the remote, undisturbed marine site may be governed by its unique environmental factors.     

Coping with uncertainty: a call for a new science-policy forum

The scientific and policy worlds have different goals, which can lead to different standards for what constitutes "proof" of a change or phenomena, and different approaches for characterizing and conveying uncertainty and risk. These differences can compromise effective communication among scientists, policymakers, and the public, and constrain the types of socially compelling questions scientists are willing to address. In this paper, we review a set of approaches for dealing with uncertainty, and illustrate some of the errors that arise when science and policy fail to coordinate correctly. We offer a set of recommendations, including restructuring of science curricula and establishment of science-policy forums populated by leaders in both arenas, and specifically constituted to address problems of uncertainty.     

Characterization of activated carbon fiber filters for pressure drop, submicrometer particulate collection, and mercury capture

The use of activated carbon fiber (ACF) filters for the capture of particulate matter and elemental Hg is demonstrated. The pressure drop and particle collection efficiency characteristics of the ACF filters were established at two different face velocities and for two different aerosols: spherical NaCl and combustion-generated silica particles. The clean ACF filter specific resistance was 153 kg m-2 sec-1. The experimental specific resistance for cake filtration was 1.6 x 10(6) sec-1 and 2.4 x 10(5) sec-1 for 0.5- and 1.5-micron mass median diameter particles, respectively. The resistance factor R was approximately 2, similar to that for the high-efficiency particulate air filters. There was a discrepancy in the measured particle collection efficiencies and those predicted by theory. The use of the ACF filter for elemental Hg capture was illustrated, and the breakthrough characteristic was established. The capacity of the ACF filter for Hg capture was similar to other powdered activated carbons.     

Gene flow in house mice: Behavior in a population cage

Summary The social behavior of house mice captured from natural populations was studied in an enclosure. Six replicate experiments with observations totalling 344 h were done to contrast the behavior of outbreeders, individuals that have progeny by interdemic reproduction; inbreeders, individuals that have progeny by intrademic reproduction; and nonbreeders. The frequency of outbreeding was also determined.In each replicate, two male and three female commensal house mice, Mus musculus, homozygous for the same allele at the hemoglobin locus, Hbb ^s , were put in half of a population cage. A barrier separated this deme from another deme homozygous for the alternative allele, Hbb^d. The barrier was removed after a month and each experiment continued for a further two months with daily observations.In five of six experiments, the mice from both demes formed one social group and in the sixth experiment, the mice remained in their original demes. In two experiments, outbreeding occurred: females from one deme produced offspring by males from the other deme. In three experiments, inbreeding occurred: females produced offspring by males from the same deme. Soon after the demes had formed one social group in these three experiments, the remaining male in a deme was killed and the experiment terminated; females without a male readily join other demes. The pattern of breeding resulted in a genetically effective size, N _e , that was approximately half of the maximum N _e obtainable with random mating. The social organization of house mice, although structured and characterized by male territoriality, presents no major barrier to gene flow within populations.Affiliative (mount, allogroom, follow) and agonistic (fight, chase, attack) behavior occurring when the barrier was present had no predictive value in determining which mice would be outbreeders. With the barrier absent, outbreeders were the recipients of more affiliative behavior than inbreeders. Male outbreeders initiated more agonistic behavior than inbreeders. Outbreeders engaged in more interdemic affiliative behavior than inbreeders.Contribution no. 362 from the Department of Ecology and Evolution at SUNY, Stony Brook     

45,X karyotype: May the diagnosis be suspected on ultrasonic examination in the second trimester of pregnancy?

We report three cases of Turner's syndrome with cystic hygromata, which were diagnosed by routine ultrasound scanning before amniocentesis in the second trimester of pregnancy. Maternal and amniotic level of alpha-fetoprotein were normal. Karyotyping carried out afterwards showed a 45,X karyotype. Our data indicate, that cystic hygromata in Turner's syndrome may coexist with a normal amniotic fluid AFP, thus questioning the theory of leakage from the hygroma. It remains to be investigated if all cases of Turner's syndrome present a cystic hygroma in utero.     

Contaminant Exposure and Effects—Terrestrial Vertebrates Database: Trends and Data Gaps for Atlantic Coast Estuaries

In order to examine the condition of biota in Atlantic coast estuaries, "Contaminant Exposure and Effects—Terrestrial Vertebrates" database (CEE-TV) has been compiled through computerized search of published literature, review of existing databases, and solicitation of unpublished reports from conservation agencies, private groups, and universities. Summary information has been entered into the database, including species, collection date (1965–present), site coordinates, estuary name, hydrologic unit code, sample matrix, contaminant concentrations, biomarker and bioindicator responses, and reference source, utilizing a 98-field character and numeric format. Currently, the CEE-TV database contains 3699 geo-referenced records representing 190 vertebrate species and >140,000 individuals residing in estuaries from Maine through Florida. This relational database can be directly queried or imported into a Geographic Information System to examine spatial patterns, identify data gaps and areas of concern, generate hypotheses, and focus ecotoxicological field assessments. Information on birds made up the vast majority (83%) of the database, with only a modicum of data on amphibians (<0.1%). Of the >75,000 chemical compounds in commerce, only 118 commonly measured environmental contaminants were quantified in tissues of terrestrial vertebrates. There were no CEE-TV data records in 15 of the 67 estuaries located along the Atlantic coast and Florida Gulf coast. The CEE-TV database has a number of potential applications including focusing biomonitoring efforts to generate critically needed ecotoxicological data in the numerous "gaps" along the coast, reducing uncertainty about contaminant risk, identifying areas for mitigation, restoration or special management, and ranking ecological conditions of estuaries.