Prenatal ultrasound diagnosis of fetal scoliosis with termination of the pregnancy: Case report

Gross scoliosis of the fetal thoracic spine was diagnosed at 18 weeks gestation. The pregnancy was terminated and the fetus found to have webbing of the neck and an imperforate anus in addition to vertebral defects.     

近期和长远时段内北极生态系统功能受到的影响

长期以来,就营养物质和碳循环而言,北极生态系统降低了初级生产力；能量,水和温室气体交换的水平已引起了局部和区域性的小幅度降温.大气CO2中的碳沉积在广袤而寒冷的有机土壤中,冰雪覆盖的低矮植被产生高的反射率,都影响了局部气候.然而,北极生态系统功能的许多方面都对气候变化及其产生的生物多样性影响敏感.当前的北极气候导致了低的有机物质分解速率,因此,尽管有机物和元素输入量较低,但北极生态系统还是趋向于积累有机物和元素,土壤中氮和磷等可利用元素结果成为促进碳固定以及生物量和有机物进一步积累的关键性限制因素.气候变暖可能增加特别是土壤中的碳和元素的周转,起初可能导致元素的丢失,但最后会慢慢的恢复.在北极生态系统中,单个物种和物种多样性已经明显地影响了元素的输入和滞留,另一方面,从长远来看,尽管CO2和紫外线增加对植物组织化学、分解和氮固定的影响可能变得重要,但对整个生态系统来说,影响可能很小.碳循环的示踪气体主要形式是CO2和CH4,大多数碳以CO2的形式损失,这些CO2是由植物和土壤生物产生.来自潮湿苔原生态系统以CH4形式释放的碳大约是CO2形式的5％,而且在没有任何其他变化的情况下,对变暖作出响应.冬天过程和植物类型也影响CH4释放和能量在生物圈和大气之间的交换,因为反射率从冬末到夏天存在很大的变化,在冬末,雪反射了入射的大部分光线,在夏天,生态系统吸收了入射的大部分光线,所以在所有的陆地生态系统中,北极生态系统在能量交换方面表现出巨大的季节性变化.植被深刻地影响北极生态系统水和能量交换.在冰雪覆盖期间,反射率从苔原、森林苔原、落叶林、常绿林依次降低.灌木和树增加了雪的深度,反过来又使冬天的土壤温度增加,因此,由气候变化而引起的未来植被方面的变化很可能深远地改变区域的气候.     

Prenatal diagnosis of β-thalassaemia in Mediterranean populations by dot blot analysis with DNA amplification and allele specific oligonucleotide probes

In this study, we describe a simple strategy to detect β-thalassaemia mutations in prospective parents and to make prenatal diagnosis in pregnancies at risk in the Mediterranean population. Screening of prospective parents is carried out by dot blot analysis on enzymatically amplified DNA with a set of oligonucleotide probes complementary to the most common mutations in this population. Prenatal diagnosis is accomplished by the same procedure on enzymatically amplified amniocyte or trophoblast DNA. The main advantages of this procedure are the simplicity, sensitivity (0.05 μg of DNA), and rapidity (12–24 h). Further simplification is obtained by amplification of the DNA from crude amniotic cell lysate. The very low amount of fetal material necessary for this analysis eliminates the need to culture amniotic fluid cells and may decrease the fetal loss rate associated with trophoblast sampling. The number of specific DNA sequences obtained by the amplification procedure allowed us to use non-radioactive labelled oligonucleotide probes, which have several advantages compared to radioactive probes.     

Prenatal diagnosis of GM2-gangliosidosis B1 variant

Prenatal diagnosis in a pregnancy at risk for a juvenile B1 variant of GM₂-gangliosidosis was carried out. The biochemical study of the cultured amniocytes and the affected fetal brain is reported. The results obtained show that the sulphated artificial substrate can be used in the diagnosis of B1 variant, but not the neutral one. The accumulation of GM₂-ganglioside in the fetal brain of the B1 juvenile form and an infantile form of GM₂-gangliosidosis (0 variant) was compared.     

Mating System and Sexual Selection in the Scorpionfly Panorpa vulgaris (Mecoptera: Panorpidae)

Panorpa vulgaris   has become a model insect for testing theories of sexual selection. This contribution summarizes that which has been learned in recent years and presents new data that clearly show that the mating system of P. vulgaris is not simply a resource-defense polygyny, as has previously been thought. In P. vulgaris neither the pattern in food exploitation nor the ratio of variance in the lifetime reproductive success of the two sexes is in accordance with that expected in resource defense polygynous mating systems. Lifetime mating duration is the most important proximate determinant of male fitness. Males employing alternative mating tactics obtain copulations of varying duration in relation to the following sequence: saliva secretion  1  food offering  1  no gift. The number of salivary masses which males provide to females during their lifetime is significantly correlated with the lifetime condition index. The condition index depends on the fighting prowess of males and their ability to find food items. Thus saliva secretion of Panorpa is considered a Zahavian handicap, which can serve as an honest quality indicator used by mating females. Our results confirm four main predictions of the indicator model of the theory of sexual selection: (a) the indicator signals high ecological quality of its bearer, (b) the indicator value increases with phenotypic quality, (c) the indicator value is positively correlated with the genetic quality affecting offspring fitness in a natural selection context, and (d) the quality indicator is more costly for low- than for high-quality individuals. The evolutionary consequences of the mating pattern and the sperm competition mechanism in P. vulgaris are discussed in the context the way in which sexual selection creates and maintains sperm mixing and the evolution of a promiscuous mating system.     

Serum PAPP-A measurements in first-trimester screening for Down syndrome

Serum PAPP-A measurements taken from 254 women in the first trimester are reported. Eleven chromosomal abnormalities were detected. The mean serum PAPP-A levels in cases of Down syndrome were 0.44 MOM at 9 weeks gestation, 0.15 MOM at 10 weeks, and 0.29 MOM at 11 weeks. The PAPP-A level at 10 weeks was below those of pregnancies which aborted spontaneously. At 11 weeks, the pregnancies with Down syndrome recorded the lowest PAPP-A levels at that gestation. On this small sample, offering chorionic villus sampling to women with singleton pregnancies and a PAPP-A level below 0.3 MOM (approximately 6.5 per cent of this at-risk group) would have detected all the Down syndrome fetuses at 10 weeks and 50 per cent at 11 weeks without selecting those cases destined to abort. This suggests that serum PAPP-A should continue to be investigated as a potential first-trimester screening test for Down syndrome.     

Gas chromatographic separation and determination of chloroanthracene isomers on fly ash

An efficient, reproducible and rapid fused silica capillary column gas chromatographic method, in splitless mode, for analysing of the three chloroanthracene isomers is described. The method affords efficient separation and good linearity for each isomer in the range of 0.2 -200 μg/ml. The method can also be used in separation and determination of another thirty three aromatic and their halosubstituted compounds. This paper also presents the applications of the method in analysing of complex products mixture from reaction of the selected aromatic compounds with hydrogen chloride on fly ash surface from municipal incinerator.