Prenatal diagnosis of partial monosomy 18p(18p11.2→pter) and trisomy 21q(21q22.3→qter) with alobar holoprosencephaly and premaxillary agenesis

A prenatal diagnosis of partial monosomy 18p(18p11.2→pter) and trisomy 21q(21q22.3→qter) in a fetus with alobar holoprosencephaly (HPE) and premaxillary agenesis (PMA) but without the classical Down syndrome phenotype is reported. A 27-year-old primigravida woman was referred for genetic counselling at 21 weeks' gestation due to sonographic findings of craniofacial abnormalities. Level II ultrasonograms manifested alobar HPE and median orofacial cleft. Cytogenetic analysis and fluorescence in situ hybridization (FISH) on cells obtained from amniocentesis revealed partial monosomy 18p and a cryptic duplication of 21q,46,XY,der(18)t(18;21)(p11.2;q22.3), resulting from a maternal t(18;21) reciprocal translocation. The breakpoints were ascertained by molecular genetic analysis. The pregnancy was terminated. Autopsy showed alobar HPE with PMA, pituitary dysplasia, clinodactyly and classical 18p deletion phenotype but without the presence of major typical phenotypic features of Down syndrome. The phenotype of this antenatally diagnosed case is compared with those observed in six previously reported cases with monosomy 18p due to 18;21 translocation. The present study is the first report of concomitant deletion of HPE critical region of chromosome 18p11.3 and cryptic duplication of a small segment of distal chromosome 21q22.3 outside Down syndrome critical region. The present study shows that cytogenetic analyses are important in detecting chromosomal aberrations in pregnancies with prenatally detected craniofacial abnormalities, and adjunctive molecular investigations are useful in elucidating the genetic pathogenesis of dysmorphism. Copyright © 2001 John Wiley & Sons, Ltd.     

Epidemiologic Analysis of Factors Associated with Local Disappearances of Native Ranid Frogs in Arizona

Abstract:  We examined factors that may independently or synergistically contribute to amphibian population declines. We used epidemiologic case–control methodology to sample and analyze a large database developed and maintained by the Arizona Game and Fish Department that describes historical and currently known ranid frog localities in Arizona, U.S.A. Sites with historical documentation of target ranid species ( n = 324) were evaluated to identify locations where frogs had disappeared during the study period (case sites) and locations where frog populations persisted (control sites). Between 1986 and 2003, 117 (36%) of the 324 sites became case sites, of which 105 were used in the analyses. An equal number of control sites were sampled to control for the effects of time. Risk factors, or predictor variables, were defined from environmental data summarized during site surveys and geographic information system data layers. We evaluated risk factors with univariate and multifactorial logistic-regression analyses to derive odds ratios (OR). Odds for local population disappearance were significantly related to 4 factors in the multifactorial model. Disappearance of frog populations increased with increasing elevation (OR = 2.7 for every 500 m, p < 0.01). Sites where disappearances occurred were 4.3 times more likely to have other nearby sites that also experienced disappearances (OR = 4.3, p < 0.01), whereas the odds of disappearance were 6.7 times less (OR = 0.15, p < 0.01) when there was a source population nearby. Sites with disappearances were 2.6 times more likely to have introduced crayfish than were control sites (OR = 2.6, p = 0.04). The identification of factors associated with frog disappearances increases understanding of declines occurring in natural populations and aids in conservation efforts to reestablish and protect native ranids by identifying and prioritizing implicated threats.     

Molecular taxonomy of vestimentiferans of the western Pacific and their phylogenetic relationship to species of the eastern Pacific

The nucleotide sequence of part (624 bp) of a mitochondrial gene for cytochrome oxidase I was determined for 46 escarpiid vestimentiferans collected from seven sites in the western Pacific and 49 individual specimens of Arcovestia ivanovi from two sites in the Manus Basin. Phylogenetic analysis, based on the newly obtained and previously reported sequences, indicated that escarpiids in the western Pacific can be divided into two tentative species, as we proposed in a previous report. While members of the first tentative species have been collected exclusively from a seep area at a depth of 300 m off the coast of central Japan, the members of the second species inhabit some sites at depths greater than 1,100 m, namely, seep areas in Japanese and Papua-New Guinean waters as well as hydrothermal vent fields in the Okinawa Trough and the Manus Basin. We detected no genetic structure among populations of the second tentative species. The first tentative species was more closely related to a species in the eastern Pacific, Escarpia spicata, and to a species in the Gulf of Mexico, Escarpia laminata, than to the second tentative species in the western Pacific. Sequences obtained from all arcovestiids were identical with the exception of those from three individuals, each of which included a single synonymous nucleotide substitution relative to the dominant haplotype, and no genetic differences were detected between specimens from the two sites in the Manus Basin.     

Total quality practitioner. Improving environmental process

Quick fix. Putting out firs. Do it over. Fix it again. Bottlenecks. Come back to it later. Out of stock. Back order. Not what we ordered. Is that the best you can do? It's the contractor's fault. Not within specs. Defective. Nobody's perfect. Lost in the system. Over budget. Delayed. Late penalities. Fines.     

Role of vitamin A in the haematotoxicity of hexachlorocyclohexane (HCH) in the rat.

The haematotoxicity of technical hexachlorocyclohexane (HCH) (1000 ppm) was investigated in male albino rats fed with diet free of vitamin A or containing vitamin A at 2000 or 10(5) I.U./kg. Assessment of HCH-induced haematotoxicity at the end of the 7 weeks feeding period was done on the basis of haemoglobin content, total count of red blood cells and white blood cells and the differential counts of the white blood cells as well as by parameters such as packed cell volume, mean corpuscular volume, mean corpuscular haemoglobin, mean corpuscular haemoglobin content, prothrombin time and clotting time. In the rats fed with vitamin A-free diet containing HCH, significant reductions were noticed in the total white blood cells count, clotting time and prothrombin time indicating severe haematotoxicity. Differential count of the white blood cells of these rats revealed a non-significant reduction in the lymphocyte count. The only indication of haematotoxicity caused by hexachlorocyclohexane in the vitamin A supplemented rats was a slight but statistically significant reduction of the total count of white blood cells. These results demonstrate that the haematotoxicity of hexachlorocyclohexane in the rats is enhanced by vitamin A-deficiency and its supplementation particularly in excess but not at hypervitaminotic level is protective against the toxicity.     

Reproduction and population dynamics of the fissiparous brittle star Ophiactis savignyi (Echinodermata: Ophiuroidea)

Reproductive cycle, asexual reproduction, and population dynamics of the fissiparous brittle star, Ophiactis savignyi, which inhabits the exhalant passages of the sponge Haliclona sp. were examined monthly from February 1991 to January 1992 at Wanlitung, southern Taiwan (22°N; 120°E). Mature gametes were found from March to December, but release was mainly in May and June. Sexual recruits were found from May to December, with the highest frequency (14.1% of population) in June. Sexual recruits composed 2.4% of the 1-yr sample. Sex ratio of male to female was 24:1. Fission occurred throughout the year, although the frequency of recently split individuals was lower from January to June (6 to 31%), and higher from July to December (42 to 52%). The occurrence of fission was highest after spawning. Regenerating individuals composed 48.2% of the 1-yr sample. Population density fluctuated greatly during summer due to recruitment by fission and mortality or dispersal due to the stressful environmental conditions. Both sexual and asexual reproduction of O. savignyi were successful at this site.     

What Exactly Is an Endangered Species? An Analysis of the U.S. Endangered Species List: 1985–1991

Critics of the Endangered Species Act have asserted that is protects an inordinate number of subspecies and populations, in addition to full species, and that the scientific rationale for listing decisions is absent or weak. We reviewed all U.S. plants and animals proposed for listing or added to the endangered species list from 1985 through 1991 to determine the relative proportion of species, subspecies, and populations, and their rarity at time of listing. Approximately 80% of the taxa added to the list were full species, 18% were subspecies, and 2% were distinct populations segments of more widespread vertebrate species. The proportion of subspecies and populations was considerably higher among birds and mammals than among other groups. The median populations size at time of listing for vertebrate animals was 1075 individuals; for invertebrate animals it was 999. The median population size of a plant at time of listing was less than 120 individuals. Earlier listing of declining species could significantly improve the likelihood of successful recovery, and it would provide land managers and private citizens with more options for protecting vanishing plants and animals at less social or economic cost.     

金属加工过程中应力状态的分析方法

分析简单地拉伸、压缩和扭转的情况时,应力状态能容易地被确定.但是,实际上在金属加工过程中材料是承受复杂的应力状态,在模具——工件接触面上增加有摩擦力.而且,这些应力和摩擦力一般地沿着接触面变化.准确的计算或预测载荷、力、应力和温度,不但对设计适宜的设备是重要的,而且对研究工艺期间材料的变化过程也是重要的.本文将讨论材料变形过程中所运用的主要分析方法及其优缺点.