Expanding multiple marker screening for Down's syndrome to include Edward'S syndrome

Information on maternal age and maternal serum alpha-fetoprotein, unconjugated oestriol (uE₃), and human chorionic gonadotrophin (hCG) levels was used to investigate retrospectively the effect of estimating Edward's syndrome risk in women having multi-marker screening for Down's syndrome. The screened population comprised 15 pregnancies affected by Edward's syndrome, 15 with Down's syndrome and 5472 unaffected pregnancies. The use of all three markers to estimate Edward's syndrome risk would have led to the detection of 10–12 (67–80 per cent) cases with a false-positive rate of 0.3–0.6 per cent depending on the risk cut-off. A further case would have been detected as a result of screening for Down's syndrome alone. Similar results were obtained when the Edward's syndrome risk was based on uE₃ and hCG only. These data suggest that extending Down's syndrome screening to include Edward's syndrome risk will yield a high detection rate with only a small increase in the false-positive rate.     

Determinants of parental decisions to abort for chromosome abnormalities

Parental decisions concerning the continuation of pregnancy following prenatal detection of abnormal chromosomes were evaluated for 80 patients whose diagnosis and prenatal counselling were performed in our centre. Twenty-two anomalies were diagnosed by chorionic villus sampling (CVS) and 58 by amniocentesis. The severity of the chromosome anomaly and associated ultrasound findings in the first vs. second trimester were correlated with patients' decisions. No difference was found in the likelihood of parental decisions to interrupt or continue a pregnancy between CVS and amniocentesis for either the‘severe’ or the‘questionable’ group of chromosome anomalies. Ninety-three per cent of patients with severe prognosis and 27 per cent with questionable prognosis opted for pregnancy termination (p <0·0001). The association of ultrasound anomalies and termination was highly significant (p< 0·001). The severity of the chromosome anomaly, and, to a lesser extent, the visualization of anomalies on ultrasound were the major determinants of parental decisions to terminate the pregnancy. The diagnosis of an anomaly in the first trimester was no more likely ito lead to a termination of pregnancy than in the second trimester.     

Hydrogen storage and distribution systems

Hydrogen storage and transportation or distribution is closely linked together. Hydrogen can be distributed continuously in pipelines or batch wise by ships, trucks, railway or airplanes. All batch transportation requires a storage system but also pipelines can be used as pressure storage system. Hydrogen exhibits the highest heating value per weight of all chemical fuels. Furthermore, hydrogen is regenerative and environment friendly. There are two reasons why hydrogen is not the major fuel of toady’s energy consumption: First of all, hydrogen is just an energy carrier. And, although it is the most abundant element in the universe, it has to be produced, since on earth it only occurs in the form of water. This implies that we have to pay for this energy, which results in a difficult economic task, because since the industrialization we are used to consuming energy for free. The second difficulty with hydrogen as an energy carrier is the low critical temperature of 33 K, i.e. hydrogen is a gas at room temperature. For mobile and in many cases also for stationary applications the volumetric and gravimetric density of hydrogen in a storage system is crucial. Hydrogen can be stored by six different methods and phenomena: high pressure gas cylinders (up to 800 bar), liquid hydrogen in cryogenic tanks (at 21 K), adsorbed hydrogen on materials with a large specific surface area (at T < 100 K), absorbed on interstitial sites in a host metal (at ambient pressure and temperature), chemically bond in covalent and ionic compounds (at ambient pressure), oxidation of reactive metals e.g. Li, Na, Mg, Al, Zn with water. These metals easily react with water to the corresponding hydroxide and liberate the hydrogen from the water. Finally, the metal hydroxides can be thermally reduced to the metals in a solar furnace.     

Prenatal diagnosis of endocardial fibroelastosis

In a case of fetal heart failure caused by endocardial fibroelastosis, prenatal echocardiography clearly demonstrated; a thickened endocardium. We therefore suggest that an abnormal endocardium may be detected in utero by ultrasound, thus representing an important clue in the differential diagnosis of fetal nonimmune hydrops and in the evaluation of pregnancies at risk for endocardial fibroelastosis.     

Environmental input-output model and its analysis with a focus on the solid waste management sectors

ＩｎｔｒｏｄｕｃｔｉｏｎＳｉｎｃｅｔｈｅｆｉｒｓｔｅｎｖｉｒｏｎｍｅｎｔａｌｉｎｐｕｔｏｕｔｐｕｔｍｏｄｅｌ(ＥＩＯＭ)(Ｃｕｍｂｅｒｌａｎｄ,1966)ｗａｓｅｓｔａｂｌｉｓｈｅｄｂｙｉｎｃｏｒｐｏｒａｔｉｎｇｅｎｖｉｒｏｎｍｅｎｔａｌｆａｃｔｏｒｓｉｎｔ?..     

Fetal urinary insulin-like growth factor I and binding protein 3 in bilateral obstructive uropathies

Fetal urinary concentrations of insulin-like growth factor I (UIGF-I) and binding protein 3 (UIGFBP-3) were determined in patients with prenatal diagnosis of bilateral obstructive uropathy. Patients were retrospectively assigned to three groups, on the basis of outcome: group 1, termination of pregnancies (n = 11) with sonographic evidence of severe oligohydramnios or renal dysplasia, confirmed at histological examination; group 2, patients (n = 10) with postnatal plasma creatinine > 50 μmol/1 at the age of 1 year (1 yr-pCreat); and group 3, patients (n = 16) with 1 yr-pCreat ≤ μmol/1. The results show a significant increase in UIGF-I and UIGFBP-3 in groups 1 (18 159 ± 9083 pg/ml; 2657 ± 669 ng/ml) and 2 (1574 ± 847 pg/ml; 176 ± 50 ng/ml) in comparison with group 3 (35 ± 6 pg/ml; 21 ± 2 ng/ml). UIGF-I and UIGFBP-3 were significantly correlated with postnatal plasma creatinine, and were both sensitive (90 per cent; 80 per cent) and specific (88 per cent; 88 per cent) for prediction of elevated 1 yr-pCreat (>50 μmol/1). Fetal urinary IGF-I and IGFBP-3 are increased in severe fetal bilateral obstructive uropathy, possibly reflecting tubular dysfunction or/and increased synthesis consequent upon fetal kidney injury. Their predictive value for postnatal renal function needs further assessment.     

海水和海洋沉积物中总磷的测定

系统介绍了海水和海洋沉积物中总磷的测定方法，选用Ｋ２Ｓ２Ｏ８为氧化剂将有关形式的Ｐ转化成ＰＯ＾３－４，连同样品中原有的ＰＯ＾３－４－起用以抗坏到为还原剂的磷钼蓝法测定。方法的精密度６％，回收率为９１％－１０７％。     

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.