Prenatal diagnosis of spinal muscular atrophy in Russia

Ninety-two families with spinal muscular atrophy (SMA) applied for genetic counselling and further prenatal diagnosis. To minimize expenses, only one tightly linked informative marker was determined in the course of preliminary examination, and non-radioactive allele detection was preferably used. Four prenatal diagnoses of SMA type I, four of SMA type II, and one of SMA type III were made. This trial programme shows the considerable requirements, importance, and potential effectiveness of prenatal prediction of SMA in Russia.     

The 48,XXYY syndrome: A case detected by maternal serum alpha-fetoprotein screening

A 17-year-old woman was referred for amniocentesis due to a low maternal serum alpha-fetoprotein (AFP) concentration in a voluntary screening test. The fetal karyotype was 48,XXYY, and the pregnancy was terminated. Autopsy of the fetus disclosed agenesis of the corpus callosum and unusual facial features.     

First-trimester prenatal diagnosis of aspartylglucosaminuria

Fetal aspartylglucosaminuria (AGU) was studied during the first trimester of pregnancy in six at-risk pregnancies using chorionic villus samples. The activity of aspartylglucosaminidase (AGA) was high in five cases, indicating an unaffected fetus. This was confirmed through delivery of healthy newborns with a normal pattern of urinary oligosaccharides. Low enzyme activity in an uncultured biopsy specimen and in cultured amniotic fluid cells in one case demonstrated that the fetus was affected. The pregnancy was terminated and the prenatal diagnosis was confirmed by showing reduced AGA activity in cultured fibroblasts of the fetus.     

Detection of low-grade mosaicism in fetal cells isolated from maternal blood

Recovering and analysing fetal erythrocytes from maternal blood is being pursued for non-invasive prenatal genetic diagnosis. We report the observation of 46, XY/47, XXY mosaicism in fetal cells from a woman whose first-trimester chorionic villus sampling (CVS) initially showed only 46, XY. Only after exhaustive (500 cells) analysis were four XXY cells found in cultured villi.     

The influence of source and timing of nitrogen fertilizers on yield and nitrogen use efficiency of four sweet potato cultivars

Nitrogen (N) availability is a very important determinant of crop yield. It is also one of the most expensive inputs in crop production. Thus, the efficient management of N by farmers with limited resource is a very important part of successful soil and crop management system. A field study was conducted on a Norfolk sandy loam soil at the George Washington Carver Agricultural Experiment Station, Tuskegee, AL, to evaluate the influence of fertilizer source and timing on the yield of four sweet potato [Ipomoea batatas (L.)] cultivars. Two N sources (urea, CO(NH₂)₂ and ammonium nitrate, NH₄NO₃), four sweet potato cultivars (‘Georgia Jet’, GA-Jet; ‘TU-82-155’, TU-155; ‘TU-1892’; and ‘Rojo Blanco’, Rojo-Bl) and three times (zero, single, and split applications) were used in a factorial designed experiment. Plants were harvested after 80 and 120 days and total and marketable yields determined. Nitrogen recovery efficiency, yield efficiency and physiological efficiency were also determined. Total and marketable yields of early maturing cultivars were significantly higher than of late maturing cultivars (P<0.05). The single application of N resulted in significantly higher yield in storage roots than split application (P<0.05). Physiological efficiency values were highly correlated with total marketable yields. Recovery rates increased with time. Late maturing cultivars tended to have higher N recovery and physiological efficiency than early maturing cultivars. These results suggest that cultivar maturity group should play an important part in N fertilization recommendations for sweet potato.     

21世纪的保护区:为社会利益而工作

当今保护区面临着前所未有的挑战和机遇，人与资源的关系是保护区工作的关键。保护区随着社会的发展而发展，保护自然需要更加灵活的管理措施，保护区与人的关系更为密切，保护服务和推动保护区毗邻区域的发展正在成为重要目标，这些都将有利于保护区域的生物多样性，未来保护区将为社会利益而工作。     

Adverse outcome in pregnancy following amniotic fluid isolation of Ureaplasma urealyticum

Infections in pregnancy with Ureaplasma urealyticum have been associated with a wide range of adverse outcomes, such as early abortion, stillbirth, prematurity, and neonatal morbidity and mortality. Causality has been difficult to demonstrate secondary to the high prevalence of asymptomatic lower genital tract (LGT) colonization and culture data from inaccessible or potentially contaminated sites. Between 1985 and 1989, 2461 second-trimester genetic amniocenteses were evaluated at the cytogenetics section of the Children's Hospital Medical Center of Akron. All were cultured for the genital mycoplasmas: Mycoplasma hominis and Ureaplasma urealyticum. A total of nine patients were positive, all for Ureaplasma urealyticum, with one patient excluded because of subsequent therapeutic abortion. In addition, complete follow-up data, such as indication for amniocentesis, serum alpha-fetoprotein levels, gestational age at parturition, and out- come of pregnancy, were available on 86 Ureaplasma-negative (U –) patients during an approximate 2-year span within the time-frame of the study. This was in part due to physician response to a questionnaire sent after amniocentesis. Of the eight positive cultures, 100 per cent were associated with an adverse outcome, defined as fetal loss or premature delivery. This was significant compared with the U–group (p<0.001) with a more than eight times greater risk of adverse outcome. Six (75 per cent) resulted in spontaneous miscarriage within 4 weeks of amniocentesis and at less than 21 weeks' gestation. Two (25 per cent) delivered prematurely, with one (12.5 per cent) neonatal death at 24+ weeks. Histological examination of all eight placentae and the seven fetuses revealed a 100 per cent incidence of chorioamnionitis and pneumonia, respectively. In addition, in four of the five cases (80 per cent), cultures were positive for Ureaplasma urealyticum in pure culture from either placenta, fetal lung, or both tissues. The remaining case (20 per cent) was negative for aerobes, anaerobes, and mycoplasmas. The study demonstrates a significant association and supports a causal relationship between isolation of Ureaplasma from mid-trimester amniotic fluid with fetal wastage and premature birth.