Fetal translocation between chromosomes 2, 18, and 21 resolved by fish

An apparently balanced t(2q;21q) translocation was discovered in fetal blood and amniocytes of a 22-week fetus, monitored because of ultrasonographic evidence of a heart disease. FISH (fluorescence in situ hybridization) analysis disclosed a complex translocation between chromosomes 2q, 18q, and 21q, which was inherited from the healthy mother. This observation corroborates the usefulness of molecular cytogenetic techniques in raising the quality of prenatal diagnosis and detecting subtle rearrangements not resolved by standard cytogenetics.     

Rapid prenatal diagnosis of aneuploidy from uncultured amniotic fluid cells using five-colour fluorescence in situ hybridization

In this paper we describe the use of five-colour fluorescence in situ hybridization for prenatal diagnosis of aneuploidy using uncultured amniotic fluid cells. The analysis is based on ratio mixing of dual-labelled probes and digital imaging for the detection and visualization of five different probes specific for the five target chromosomes, 13, 18, 21, X, and Y. A retrospective blind analysis of 30 coded uncultured amniotic fluid samples correctly detected fetal sex and five trisomy 21 cases. Multicolour fluorescence in situ hybridization used in this way allows rapid and simultaneous detection of the most frequent aneuploidies.     

Continuous subcutaneous insulin infusion (CSII) in pregnant diabetic patients

The efficacy of the insulin infusion pump (CSII) in pregnancy was examined in 12 diabetic patients and compared with intermittent insulin therapy (IIT). In patients poorly controlled on IIT constant and rapid equilibrium was achieved with CSII (mean of glucose levels: CSII versus IIT=84 versus 137 mg/dl; S.D. = 36 versus 63 mg/dl; mean amplitude of glycemic excursion (MAGE)=65 versus 112 mg/dl. In patients well controlled on IIT, CSII led to a reduction in the variation of glucose excursions (S.D.= 29 versus 36 mg/dl; MAGE=48 versus 76 mg/dl). CSII generally produced a reduction of 20–37 per cent of daily insulin dose (in three cases there was an increase of dose with the achievement of glycemic control). Furthermore in CSII treated-patients amniotic glucose, insulin and C-peptide concentrations werefound tobeinthenormalrange(22.1±10.1 mg/dl; 5.2±2.7μ/ml; 1.25±0.71 ng/ml, respectively). All infants were horn at or near-term, had no macrosomia or neonatal problems. It is concluded that CSII is a highly efficient way to achieve normal glucose levels in pregnancy, not only in type I, hut also in type II or gestational diabetes.     

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.     

Transabdominal chorionic villus sampling: Analysis of 350 consecutive cases

We report a series of 350 patients submitted to transabdominal chorionic villus sampling (CVS). A technique using two ultrasound-guided needles and a suction pump was used. In most cases, the procedure was performed between 9 and 13 weeks. Twenty-one pregnancies were selectively terminated; nine spontaneous abortions followed the procedure and one fetal loss after 28 weeks was recorded; 153 pregnancies are in progress and 169 delivered fetuses are alive and well. Transabdominal biopsy is a feasible and effective technique for CVS.     

Time series analysis of coal mine accident experience

This study investigates several forecasting techniques that can be useful to mine safety managers for studying mine accident rate behavior. Three time series models were studied for extrapolation of accident rates. These models are applied to historical accident incidence data from a coal mine. Further, a method is presented for evaluating the three models for the selection of an appropriate model. For this particular mine application, it is concluded that the more complex Box-Jenkins ARMA model as well as first order autoregressive model do not give better results than the simple exponential smoothing model. However, when the random variations or autocorrelations in the accident experience rates between periods are different, the models may predict differently. As such, specific models must be developed for each mine on the basis of statistical analysis of the mine accident experience data over time. Moreover, the importance of incorporating human judgement to interpret the results of statistical forecasting cannot be overemphasized. Integration of policy or operating changes, which may impact mine safety performance, with statistical forecasting techniques is essential to arrive at a realistic prediction of future performance.     

Green exercise in the UK countryside: Effects on health and psychological well-being,and implications for policy and planning

There is evidence that contact with the natural environment and green space promotes good health. It is also well known that participation in regular physical activity generates physical and psychological health benefits. The authors have hypothesised that ‘green exercise’ will improve health and psychological well-being, yet few studies have quantified these effects. This study measured the effects of 10 green exercise case studies (including walking, cycling, horse-riding, fishing, canal-boating and conservation activities) in four regions of the UK on 263 participants. Even though these participants were generally an active and healthy group, it was found that green exercise led to a significant improvement in self-esteem and total mood disturbance (with anger-hostility, confusion-bewilderment, depression-dejection and tension-anxiety all improving post-activity). Self-esteem and mood were found not to be affected by the type, intensity or duration of the green exercise, as the results were similar for all 10 case studies. Thus all these activities generated mental health benefits, indicating the potential for a wider health and well-being dividend from green exercise. Green exercise thus has important implications for public and environmental health, and for a wide range of policy sectors.