An accessory marker derived from chromosome 20 and its co-existence with a mosaic trisomy 20 cell line

We report a 16-month-old boy with delayed psychomotor development, dysmorphic features, and failure to thrive. He had a mosaic karyotype detected prenatally: mos 46,XY/47,XY,+r(20)/47,XY,+20. After birth, the abnormal cell lines were confirmed in a number of tissues. The small ring chromosome was identified using fluorescence in situ hybridization as derived from chromosome 20. We compared our patient with previously reported cases of mosaic trisomy 20 detected prenatally and associated with an abnormal phenotype. In an attempt to characterize an r(20) syndrome, we also compared our case with two similar reports in the literature.     

Thyroid antibodies are not a risk factor for pregnancies with down syndrome

The observation that thyroid disease is frequent in mothers of children with Down syndrome (DS) has suggested that maternal thyroid antibodies could be a factor predisposing to trisomy 21 in their offspring. In this study, the incidences of thyroglobulin (Tg) and thyroid peroxidase (TPO) antibodies were analysed with a sensitive solid-phase immunosorbent radioassay in sera from 29 mothers giving birth to children with trisomy 21 and 87 control mothers. The serum samples were collected at delivery. There was no statistical difference regarding the proportion of thyroid antibodies (against Tg and/or TPO) in the two groups. Thyroid antibodies were detected in 6/29 (20.7 per cent) of the DS mothers and in 23/87 (26.4 per cent) of the control mothers. Among the women with thyroid antibodies, 4/6 (66.7 per cent) of the DS mothers and 12/23 (52 per cent) of the control mothers had antibodies against both Tg and TPO. There was no increase in the relative risk of having a child with DS if the titre of either Tg or TPO antibodies or both were positive, i.e. ≥ 1/5. The results indicate that the presence of thyroid antibodies in the serum of a pregnant woman has no prognostic value for the birth of an infant with DS.     

Prenatal diagnosis of a fetus with terminal deletion of chromosome 1 (q41)

Many authors have suggested that individuals affected by a terminal 1q deletion display a phenotypically definable and recognizable syndrome. In all of the 27 cases reported to date, the breakpoints were at band q42 or distally to it. To our knowledge, we report the first case of a terminal 1q41 deletion. Diagnosis was made prenatally by amniocentesis, following ultrasonographic diagnosis of omphalocele, cerebral ventriculomegaly, and increased nuchal fold thickness in a 19-week female fetus. Multiple facial and extremity features were consistent with the proposed distal 1q deletion syndrome; omphalocele, however, has not been reported previously. The absence of liver herniation into the omphalocele sac in this case supports the previously reported association of this finding with chromosomal anomalies.     

Fluid Mechanics of Biological Surfaces and their Technological Application

 A survey is given on fluid-dynamic effects caused by the structure and properties of biological surfaces. It is demonstrated that the results of investigations aiming at technological applications can also provide insights into biophysical phenomena. Techniques are described both for reducing wall shear stresses and for controlling boundary-layer separation. (a) Wall shear stress reduction was investigated experimentally for various riblet surfaces including a shark skin replica. The latter consists of 800 plastic model scales with compliant anchoring. Hairy surfaces are also considered, and surfaces in which the no-slip condition is modified. Self-cleaning surfaces such as that of lotus leaves represent an interesting option to avoid fluid-dynamic deterioration by the agglomeration of dirt. An example of technological implementation is discussed for riblets in long-range commercial aircraft. (b) Separation control is also an important issue in biology. After a few brief comments on vortex generators, the mechanism of separation control by bird feathers is described in detail. Self-activated movable flaps (=artificial bird feathers) represent a high-lift system enhancing the maximum lift of airfoils by about 20%. This is achieved without perceivable deleterious effects under cruise conditions. Finally, flight experiments on an aircraft with laminar wing and movable flaps are presented.     

Analysis of the hydrocyclone stock cleaning process for wasted fibre in a paper mill

The main objective of this project was to evaluate the possibility of reducing the quantity of fibre wasted at one of many hydrocyclone (centrifugal) cleaning processes in a paper mill. It was found that the application of elutriation water to both the tertiary and quaternary cleaners was essential to minimise the fibre discharged to the sewer, and the pressure of this elutriation water had a dramatic effect of reducing the fibre wastage. Accordingly, it has been shown that 150–160 kPa as the optimum pressure range to apply elutriation water to minimise the product grade fibre wasted whilst sending undesired shive fibre to the sewer. Also, monitoring of the press uhle box wastewater revealed that the paper mill has the potential to make substantial cost savings by reducing the waste stream. Further investigation is necessary to determine the types of fibre that are being wasted, and the viability of a screen to recycle the wasted fibre to the process. However, these fibres may be unsuitable to reuse in the process and alternative uses must be found.     

Genetic amniocentesis following multifetal pregnancy reduction to twins: Assessing the risk

Fifty-three patients who elected to reduce their pregnancies to a twin gestation in our centre are known to have subsequently undergone genetic amniocentesis. Five of these patients lost their entire pregnancy following the genetic amniocentesis procedure. This is equivalent to a 9·4 per cent pregnancy loss rate for reduced twin gestations in comparison with an expected loss rate of 2 per cent for non-reduced twin gestations.     

Internal circulating fluidized bed incineration system and design algorithm

ＩｎｔｒｏｄｕｃｔｉｏｎＴｈｅｐｒｏｃｅｓｓｏｆｍｕｎｉｃｉｐａｌｓｏｌｉｄｗａｓｔｅ(ＭＳＷ)ｉｓｏｎｅｏｆｔｈｅｍｏｓｔｓｅｒｉｏｕｓｉｓｓｕｅｓｉｎｔｅｒｍｓｏｆｅｎｖｉｒｏｎｍｅｎｔａｌｐｒｏｔｅｃｔｉｏｎ.ＰｒｏｃｅｓｓｉｎｇｏｆＭＳＷｗｉｔｈｏｕｔｆｕｒｔｈｅｒｄｉｓａｓｔｒｏｕｓｃｏｎｔａｍｉｎａｔｉｏｎｃａｎｂｅａｃｈｉｅｖｅｄｏｎｌｙｉｎｍｏｄｅｒｎｉｚｅｄｍｅａｓｕｒｅｓ,ｓｕｃｈａｓｉｎｃｉｎｅｒａｔｉｎｇａｎｄｅｎｅｒｇｙｇｅｎｅｒａｔｉｎｇｃｏｎｃｕｒｒｅｎｔｌｙ(Ｓｈｅｎ…     

Chinese life cycle impact assessment factors

ＩｎｔｒｏｄｕｃｔｉｏｎＬｉｆｅｃｙｃｌｅａｓｓｅｓｓｍｅｎｔ(ＬＣＡ)ｉｓａｎｅｎｖｉｒｏｎｍｅｎｔａｌｍａｎａｇｅｍｅｎｔｔｏｏｌｔｈａｔｉｓｕｓｅｄｔｏｅｘａｍｉｎｅａｎｄｅｖａｌｕａｔｅｔｈｅｅｎｖｉｒｏｎｍｅｎｔａｌｉｍｐａｃｔｓａｓｓｏｃｉａｔｅｄｗｉｔｈｔｈｅｅｘｉｓｔｅｎｃｅｏｆｐｒｏｄｕｃｔｓ(Ｊｅｎｓｅｎ,1998;Ｗｅｉｄｅｍａ,1997;Ｗｅｎｚｅｌ,1997).ＴｈｅｆｏｃｕｓｏｆＬＣＡｉｓｏｎｔｈｅｅｎｔｉｒｅｌｉｆｅｃｙｃｌｅｏｆｔｈｅｐｒｏｄｕｃｔ,ｉ.ｅ.ｆｒｏｍｔｈｅｅｘｔｒａｃｔｉ…     

Prevention of debris flow disasters on Chengdu-Kunming Railway

ＩｎｔｒｏｄｕｃｔｉｏｎＣｈｅｎｇｄｕ ＫｕｎｍｉｎｇＲａｉｌｗａｙＬｉｎｅｉｓｌｏｃａｔｅｄｏｎｔｈｅｍｏｕｎｔａｉｎｒｅｇｉｏｎｏｆｓｏｕｔｈｗｅｓｔｅｒｎＣｈｉｎａ .Ｔｈｅｒｅａｒｅａｌｏｔｏｆｄｅｂｒｉｓｆｌｏｗｇｕｌｌｉｅｓｓｐｒｅａｄｉｎｇｂｅｓｉｄｅｔｈｉｓｒａｉｌｗａｙｌｉｎｅ .Ｏｎｓｕｍｍｅｒ,ｔｈｅｄｅｂｒｉｓｆｌｏｗｏｆｔｅｎｂｕｒｓｔｓａｎｄｔｈｒｅａｔｅｎｓｔｈｅｓａｆｅｔｙｏｆｔｈｅｒａｉｌｗａｙｔｒａｎｓｐｏｒｔａｔｉｏｎ.Ｉｎ 1981,ａｌａｒｇｅ ｓｃａｌｅｄｅｂｒｉｓ…     

Transboundary air pollution balance in the new integrated European environment

Ten out of the 12 new EU members, used to belong to the so-called “former eastern block”, with a post WWII environmental policy radically different from the tendencies followed in Western Europe. The lack of conservation regulations has resulted in a rather harmful industrialization, regarding natural resources and environmental quality. While air pollution transfer is a phenomenon of transboundary level, there is a particular interest in examining the contribution of the new EU member states to the environmental pressure faced by the older member states and vice versa. The current study utilises the official data for almost 20 years published by the European Monitoring and Evaluation Program concerning the transboundary transfer of NO_x and SO₂ in order to analyse the situation and discuss the present and future environmental policy regarding air pollution.