Prenatal diagnosis in two cases of de novo complex balanced chromosomal rearrangements. Three-year follow-up in one case

We report two cases of apparently balanced complex de novo chromosomal rearrangements (BCCR) detected prenatally at 17 weeks and 10 weeks of gestation, respectively. Chromosomes were studied using GTG-banding and fluorescent in situ hybridization (FISH). In one case four chromosomes and in the other case three chromosomes were involved in the rearrangements. One of the pregnancies was terminated and no external or internal abnormalities were detected at autopsy. The other pregnancy continued to term. Level III ultrasound examination showed no abnormalities. The child is now 3 years old and has neither congenital anomalies nor evidence of delayed psychomotor development.     

Renatal diagnosis of mosaic tetrasomy 12p/trisomy 12p by fluorescent in situ hybridization in amniotic fluid cells: A case report of pallister–killian syndrome

A prenatally detected case of a rare mosaic tetrasomy 12p/trisomy 12p is reported, presenting as the well-known accessory isochromosome 12p and a supernumerary single 12p marker in 17/24 and 6/24 clones of cultured amniotic fluid cells, respectively. The chromosomal nature of both marker chromosomes was investigated in cultured amniotic fluid cells by fluorescent in situ hybridization with various probes: the 12-centromeric probes pa12H8 and D12Z3, a whole chromosome 12 paint, and the chromosome 12p-specific paint M28. DNA analysis revealed a maternal origin of the extra 12p material. After counselling, the parents requested termination of pregnancy. Inspection and autopsy of the fetus revealed many of the dysmorphisms and internal structural abnormalities of the Pallister–Killian syndrome.     

Second-trimester cancer antigen 125 and Down's syndrome

This study explores if assay of cancer antigen 125 (CA 125) in maternal serum might aid the detection of Down's syndrome in the second trimester of pregnancy. CA 125 levels were determined retrospectively in stored maternal serum samples from ten Down's syndrome pregnancies and 78 controls matched for gestational and maternal age. In addition, second-trimester amniotic fluid samples from nine Down's syndrome and 109 unaffected pregnancies were analysed for CA 125. Maternal serum CA 125 values for Down's syndrome pregnancies were lower, with the median being 0.72 multiples of the unaffected population median. The medians for affected and unaffected pregnancies did not differ significantly and there was a considerable overlap in the range of values of cases and controls. The distribution of amniotic fluid CA 125 levels for Down's syndrome pregnancies resembled that for controls. From our present results, we could not find an association between Down's syndrome and second-trimester maternal serum or amniotic fluid CA 125 levels.     

Neural tube defects in trisomy 18

In a retrospective survey, the incidence of neural tube defects in liveborn trimsomy 18 was found to be 6·2 per cent. Based on these data one would expect to find trisomy 18 in 1 of the 117 patients with myeloidysplasia; the incidence of trisomy 18 in dysraphic fetuses would be anticipated to be higher. These observations underscore the need for amniocentesis karyotyping of fetuses with neural tube defects, and the importance of careful examination of infants born with neural tube defects.     

Trace element speciation in selected smelter-contaminated soils in Anaconda and Deer Lodge Valley, Montana, USA

Long-term copper smelting in the Anaconda and Deer Lodge Valley area of Montana has resulted in an extensive area of trace element contamination. Aerial extent of contamination is generally established, but total analysis of soils does not correlate to relative degree of impact on vegetation growth. Three pedons (Beaverell, Cetrack and Judco) were analyzed by routine soil characterization methods, aqua regia microwave digestion, sequential chemical extraction, and X-ray diffraction analysis with the objective of providing a better understanding of chemical forms and potential reactivity of selected trace elements (Cd, Co, Cr, Cu, Hg, Mn, Ni, P, Pb). Surface horizons of soils are more acidic than subsoils, with pH for all horizons ranging from 4.0 to 8.7. Beaverell is the most contaminated in the upper 20 cm with the sum of total extractable (SUM_TE) trace elements by microwave digestion ranging from 1836 to 3605 mg kg⁻¹, largest H₂O-soluble (WS) and exchangeable (EX) fractions (e.g. 1.6 and 9.3%, respectively), and smallest residual (RES) fraction (e.g. 14.3%). Cetrack has greater SUM_TE elements than Judco, though a lower WS+EX fraction due to the effects of alkaline pH, carbonates and high P. Oxide (OX), organic matter/sulfide (OM/S), and RES fractions predominate over WS, EX, and specially-sorbed/carbonate-bound fractions (SS/CAR) for all horizons. Copper, Zn, Pb and Cd are elevated in surface over subsurface horizons in these latter fractions, indicating these elements were anthropogenic additions. X-ray data indicate that Pb, Cu, Cr and Cd partially exists as both OX and sulfide mineral forms.     

Occurrence,functions and biosynthesis of polyamides in microorganisms and biotechnological production

Microorganisms are able to synthesize three different polyamides by enzymatic processes independently from ribosomal protein biosynthesis: poly(gamma-D-glutamic acid), poly(epsilon-L-lysine) and multi-L-arginyl-poly(L-aspartic acid) which is also referred to as cyanophycin. These polyamides, which occur mainly in Bacillus spp. (and only a few other eubacteria and the nematocysts of Cnidaria, in Streptomyces albulus or in cyanobacteria, respectively), have recently attracted considerable interest of the chemical industry and may be suitable for various applications. This review summarizes our current knowledge on the occurrence, biosynthesis, physiological functions, and biodegradation as well as on the properties and putative applications of these polyamides. Emphasis is placed on the enzymology of the polymerization and on the genes encoding the polymerizing enzymes, which have only recently become available for cyanophycin synthetases. Prospects for novel production processes. in particular for cyanophycin, are also presented.     

Influence of conservation tillage on winter bird use of arable fields in Hungary

Bird use of conservation tillage-established (CT—seedbed preparation without soil inversion) crops was assessed at two adjacent sites in western Hungary, in comparison with conventionally established (mouldboard ploughed—P) fields. Bird abundance was assessed in a typical rotation of spring-sown maize and winter wheat in three consecutive winters. In the first winter, several species and the guild of seed-eating passerines were significantly more abundant on CT established plots, in both crop types. In the second winter, only starlings were more abundant on CT plots. In the third winter, only skylarks favoured CT over P plots. In combination with agri-environment scheme measures designed to provide resources for biodiversity, conservation tillage could play a role in softening the impact of agriculture on farmland birds in Hungary and elsewhere in Eastern Europe, in addition to its potential for reducing soil erosion and diffuse pollution.     

重金属在牡蛎(Crassostrea virginica)中的生物积累及其影响因素的研究

牡蛎软体，贝壳和沉积物中Ｃｄ、Ｃｒ、Ｃｕ、Ｆｅ、Ｍｎ、Ｐｂ和Ｚｎ等重金属元素被同步分析研究，研究结果表明，重金属在牡蛎中的生物积累是牡自身的新陈代谢、重金属元素的地球化学性质和环境诸因素综合影响的结果，其中牡蛎斩生理作用对重金属在软体中的积累产生的影响尤为重要，而贝壳中重金属的积累对来自环境的影响更为敏感。