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.     

Measurement of atmospheric concentrations of common household pesticides: A pilot study

Air concentrations of 28 of the most commonly used household pesticides were measured inside nine homes in Jacksonville, Florida, and compared with corresponding outdoor levels. The households selected were sorted into three categories according to the degree of pesticide indoor usage. Personal air monitoring was also performed on one resident of each household by means of a portable sampler, which was kept with the person at all times. Five of the pesticides were found in the air inside of the majority of the homes at concentrations as high as 15 gm^–3 (average concentrations, 12 ngm^–3 to 2.4 gm^–3). Indoor levels were generally one to two ordrrs of magnitude higher than surrounding outdoor air levels and personal air measurements were within ± 50% of corresponding indoor values. All samples were collected over 24-hr periods on polyurethane foam and analyzed by capillary colum gas chromatography with mass spectrometric and/or electron capture detection.     

Amniotic fluid alpha-fetoprotein levels and prenatal diagnosis of autosomal trisomies

Pregnancies with fetal trisomy 21 have been associated with low amniotic fluid alpha-fetoprotein levels (AFAFP). This observation led to the suggestion that low AFAFP levels be used as a criterion for completion of a chromosomal analysis in patients who are not otherwise at increased risk for a fetal chromosome abnormality and in whom karyotyping might not have been completed for economic reasons. In order to assess the usefulness of such criteria, we reviewed the AFAFP levels of 90 cases of fetal trisomy 21, 23 cases of trisomy 18, and 10 cases of trisomy 13. These were compared with 2400 control samples with normal chromosome constitution. AFAFP levels were generally lower in pregnancies with trisomy 21, showing a median value of 0·72 MoM. However, 40 per cent of the trisomy 21 samples had AFAFP values greater than 0·8 MoM and 20 per cent were over 1·0 MoM. These data imply that over 50 per cent of Down syndrome cases might have been missed using a cut-off level of 0·70 MoM for completion of chromosome analysis. Using a higher cut-off level will leave only a small percentage of samples unkaryotyped. The distribution of AFP levels in trisomy 13 and 18 is no different from controls; we therefore believe that fetal karyotyping should be completed in every amniotic fluid sample obtained.     

Assessing the mechanism of barriers towards green finance and public spending in small and medium enterprises from developed countries

Environmental Science and Pollution Research - Due to their different abilities to improve financial growth and improve social development, small and medium enterprises (SMEs) have been referred to...     

Concentrations of volatile organic compounds,carbon monoxide,carbon dioxide and particulate matter in buses on highways in Taiwan

Although airborne pollutants in urban buses have been studied in many cities globally, long-distance buses running mainly on highways have not been addressed in this regard. This study investigates the levels of volatile organic compounds (VOCs), carbon monoxide (CO), carbon dioxide (CO₂) and particulate matter (PM) in the long-distance buses in Taiwan. Analytical results indicate that pollutants levels in long-distance buses are generally lower than those in urban buses. This finding is attributable to the driving speed and patterns of long-distance buses, as well as the meteorological and geographical features of the highway surroundings. The levels of benzene, toluene, ethylbenzene and xylene (BTEX) found in bus cabins exceed the proposed indoor VOC guidelines for aromatic compounds, and are likely attributable to the interior trim in the cabins. The overall average CO level is 2.3 ppm, with higher average level on local streets (2.9 ppm) than on highways (2.2 ppm). The average CO₂ level is 1493 ppm, which is higher than the guideline for non-industrial occupied settings. The average PM level in this study is lower than those in urban buses and IAQ guidelines set by Taiwan EPA. However, the average PM₁₀ and PM_2.5 is higher than the level set by WHO. Besides the probable causes mentioned above, fewer passenger movements and less particle re-suspension from bus floor might also cause the lower PM levels. Measurements of particle size distribution reveal that more than 75% of particles are in submicron and smaller sizes. These particles may come from the infiltration from the outdoor air. This study concludes that air exchange rates in long-distance buses should be increased in order to reduce CO₂ levels. Future research on long-distance buses should focus on the emission of VOCs from brand new buses, and the sources of submicron particles in bus cabins.     

Multi-criteria analysis via the VIKOR method for prioritizing land-use restraint strategies in the Tseng-Wen reservoir watershed

It is important to adopt proper water and soil conservation and land-use planning in a watershed for lowering adverse impacts on reservoir water quality. Although reservoir watersheds occupy a large amount of land in Taiwan, high population density has exerted development pressures on such land. Therefore, the priority ranking of land-use restrictions for the subdivisions with different degrees of environmental vulnerability is necessary in watershed management. Since there are several criteria for evaluating the potential environmental impact from the subdivisions, multi-criteria analysis was applied as a technique for solving these problems in this study. The VIKOR method was applied to determine the best feasible solution according to the selected criteria, including geographical and meteorological factors. The objective of this study was to establish the priority ranking of land-use restrictions in the Tseng-Wen reservoir wastershed in southern Taiwan. The results show that subdivisions close to the outlet or reservoir area should have the priority of land-use restrictions.