Novel mutation and prenatal sonographic findings of glutaric aciduria (type I) in two Taiwanese families

Glutaric aciduria type I (GA I) is an autosomal recessively inherited inborn error with a defect of the enzyme glutaryl-CoA dehydrogenase (GCDH), which has never been diagnosed prenatally in Taiwanese patients. We present the prenatal sonographic findings and mutational analysis data of three children in two Taiwanese families. One patient from each family was diagnosed postnatally due to macrocephaly and neurological deterioration at 4 months and 10 months, respectively. The third child, sister of the first patient, was diagnosed prenatally at 11 weeks' gestation through chorionic villus sampling (CVS). Molecular analysis revealed that the fetus and child in Family 1 were homozygous for a common mutation, IVS10 -2A>C, which has not been reported in the Caucasian population. The patient in Family 2 was a compound heterozygote for IVS10 -2A>C and a novel mutation 749T>C (L238P). After genetic counseling, the couple decided to continue the second pregnancy. However, dilatation of quadrigeminal cistern (QC) and suspicious macrocephaly were noted at 30 weeks. Progressive dilatation of the QC associated with macrocephaly, fronto-temporal atrophy and wide space of perisylvian fissure were found in the follow-up scans. The affected girl was delivered at 37 weeks' gestation by cesarean section. Postnatal magnetic resonance imaging (MRI) studies confirmed the prenatal sonographic findings. With prenatal sonographic findings and mutational analysis presented in the present cases, the feasibility of prenatal diagnosis of GA I in high-risk pregnancy can not be overlooked. Copyright © 2002 John Wiley & Sons, Ltd.     

Accumulation of radionuclides released to a reactor discharge pond

Due to material degradation in tubing, the heat exchanger for the primary coolant of the 1 MW Tsing Hua Open-pool Reactor has minor leakage to the secondary cooling system since 1970. In the past 20 years, trace amounts of ^58,60Co, ⁵¹Cr, ¹³⁷Cs, ⁵⁴Mn, ⁴⁶Sc, and ⁶⁵Zn have leaked through the cooling system, accumulated, and eventually trapped in the discharge pond directly in front of the reactor. The distribution of these radionuclides in the mud at different depths and various locations in the pond was measured with standard procedures of radioactive soil sampling and counting techniques. Concentration of corrosion products, with no more than 40 KBq/Kg dry at the hottest spot, was contour-mapped to reveal the accumulation patterns of these trace level radioactive products at the end of the 20-year period.     

The market-incentive recycling system for waste packaging containers in Taiwan

This paper presents a new market-incentive (MI) system to recycle waste-packaging containers in Taiwan. Since most used packaging containers have no or insufficient market value, the government imposes a combined product charge and subsidy policy to provide enough economic incentive for recycling various kinds of packaging containers, such as iron, aluminum, paper, glass and plastic. Empirical results show that the new MI approach has stimulated and established the recycling market for waste-packaging containers. The new recycling system has provided 18,356 employment opportunities and generated NT$ 6.97 billion in real-production value and NT$ 3.18 billion in real GDP during the 1998 survey year. Cost-effectiveness analysis constitutes the theoretical foundation of the new scheme, whereas data used to compute empirical product charge are from two sources: marketing surveys of internal conventional costs of solid-waste collection, disposal and recycling in Taiwan, and benefit transfer of external environmental costs in the United States. The new recycling policy designed by the authors provides a reasonable solution for solid-waste management in a country with limited land resources such as Taiwan.     

Maternal cell contamination of amniotic fluid cell cultures from two consecutive pregnancies complicated by fibroids

The detection of maternal cells in amniocyte cultures is thought to be due to the outgrowth of cells from small fragments of maternal tissue removed by the amniocentesis needle. An unusual case is reported in which maternal cell contamination (MCC) was found in the cell cultures from a woman in two different amniocenteses from two consecutive pregnancies. Both pregnancies were complicated by the presence of fibroids and the fibroid tissue may have been the source of the maternal cells. A history of an amniocentesis in which there was MCC of cell cultures, or the detection of fibroids, may pose an additional risk for MCC attributable misdiagnosis in prenatal genetic studies.     

Prenatal diagnosis of 49,XXXYY

The first prenatally diagnosed case of 49,XXXYY is reported. The pathological findings of the fetus included bilateral clinodactyly, decreased carrying angles (OO), and hypertelorism, slightly low set ears and mildly prominent forehead. A minimum of two independent non- disjunctional events are postulated for this polysomy to arise.     

A fetus with a chromosome 13 ring and placenta with chromosome 13 rod/ring mosaicism

A fetus was identified by prenatal cytogenetic diagnosis as having a karyotype 46,XY,r(13) (p11q13). Termination of the pregnancy yielded a severely malformed fetus. Fetal abnormalities included anencephaly, imperforate anus and urethral meatus, severe talipes, syndactyly, cardiac defects and other anomalies. Confirmatory studies on cultured placental villi cells indicated a second cell line, 46,XY, −13,+ 13qter→cen::13ql3→qter. This cell line was not detectable in cells derived from the fetus despite extensive studies. It seems likely that the two cell lines arose simultaneously with selection favouring the 46,XY,r(13) line. How the chromosome rearrangements may have arisen is discussed. We are unaware of other cases where a cell line identifiable by a chromosome abnormality appeared to be confined to placental tissue. However, studies on placental tissue may be helpful in understanding the origin of other unbalanced de novo rearrangements.     

Trisomy 20 mosaicism in prenatal diagnosis–a review and update

A total of 66 cases with prenatal diagnosis of trisomy 20 mosaicism was reviewed. Since the majority of cases (85 per cent) was associated with grossly normal phenotype and the abnormalities noted in 15 per cent of cases were inconsistent and rather non-specific, no causal relationship between trisomy 20 mosaicism and a specific malformation syndrome can be established. The possiblity of an association between an abnormal phenotype and a high percentage of trisomy 20 cells (> 60 per cent) must be considered preliminary and be viewed with caution. The fact that cells with trisomy 20 have not been recovered from blood cultures and were detected more frequently from specific fetal tissues, (such as kidney, rectum, oesophagus), and from placental tissues, suggests that trisomy 20 is more likely to be confined to certain fetal organs and to extra-embryonic tissues. This review calls for the collection of more data on all cases of trisomy 20 mosaicism diagnosed prenatally, in order to provide more accurate information to the prospective parents.     

The enhancement of the biodegradability of phenolic solution using preozonation based on high ozone utilization

In this research, the effects of preozonation on the biodegradability of 4-cresol, 4-nitrophenol and 2-chlorophenol solutions were investigated using a new gas-inducing reactor with high ozone utilization rate. The extent of preozonation may be monitored by determining the characteristic ozonation behaviors of preozonized phenolic solutions, such as residual phenolic concentration, ADMI value and ozone gas outlet concentration. Experimental results showed that as the initial phenolic compounds decomposed completely, the ozone gas outlet concentration rapidly increases. In addition, at pH 7, a peak ADMI value appears during the preozonation of 4-cresol and 2-chlorophenol, while for 4-nitrophenol the ADMI value decreases monotonically. Based on the characteristic ozonation behaviors and the ozone utilization rate, three characteristic times were chosen in order to have better control on the extent of preozonation. The effect of preozonation on the biodegradability of preozonized phenolic solution was studied based on these characteristic times. The intermediate products during the preozonation were also identified. The variation of BOD5 is strongly dependent on the accumulation of intermediate products. It is suggested that the best characteristic time is as the rapid increase of ozone gas outlet concentration in this study. The biodegradability (BOD5/COD) of preozonized 4-cresol, 2-chlorophenol and 4-nitrophenol solutions increase to 0.18, 0.26 and 0.33, respectively, for the best characteristic time.     

Organotins and imposex in the rock shell, Thais clavigera, from oyster mariculture areas in Taiwan

The amounts of organotin compounds such as butyltins [sigma BTs: tributyl- (TBT), dibutyl- (DBT), monobutyl- (MBT)] and phenyltins [sigma PhTs: triphenyl- (TPhT), diphenyl- (DPhT) and monophenyl- (MPhT)] in rock shells, Thais clavigera, from the northern (Shiangsan), central (Lukang) and southern (Chiku) Taiwan oyster mariculture areas varied with season and location. High values of sigma BTs (mainly TBT) and low values of sigma PhTs (mainly TPhT) were found during winter (January 1999) at Shiangsan, while high amounts of sigma PhTs (mainly TPhT) and low sigma BTs (mainly TBT) were found during summer (August 1998) at Lukang. The snails were also affected by imposex. Imposex at Shiangsan, Lukang and Chiku increased from 67.1, 59.3 and 36.7% in summer to 100, 100 and 80% in winter, respectively. Relative penis size indices similar trend at Chiku site. No male displayed rock shells were found at Shiangsan and Lukang in winter. Linear correlations between pseudopenis length versus TBT (r = 0.7655, P < 0.001), DBT (r = 0.4253, P < 0.05), MBT (r = 0.5865, P < 0.01) and TPhT (r = -0.6160, P < 0.01) were obtained significant. Among 200 samples, significant positive correlations between length (pseudopenis/shell) ratio of female versus TBT (r = 0.6944, P < 0.005) and sigma BTs (r = 0.6413, r < 0.01) were also observed. The weak correlations between length (pseudopenis/shell) ratio of female versus DBT (r = 0.3085) and MBT (r = 0.4240, P < 0.1) and TPhT (-0.4917, P < 0.05; negative correlation) could indicate that DBT, MBT and TPhT have little or no effect on the development of imposex in rock shells.     

Study on hydrogen production with hysteresis in UASB

This paper uses a 10-l UASB (upflow anaerobic sludge blanket) bench-scale reactor to treat the esterification wastewater of a polyethylene terephthalate manufacturing plant. Two organic loading rates are used to evaluate the effect on H2 production of temperature gradually step-down and step-up in the range of 11-25 degrees C. Experimental results show that H2 production is positively related to temperature. H2 production increases with temperature at the higher organic loading rate (4.5 kg COD m(-3)d(-1)). However, the H2 produced does not go back to its original concentration but rather follows a hysteresis curve. This hysteresis also occurs in the corresponding concentrations of COD, acetate, propionate and butyrate. As in the H2 profiles, these parameter curves return clockwise during the temperature step-up. At the lower organic loading rate (2.2 kg COD m(-3)d(-1)), no obvious hysteresis is observed for H2 curve. The pattern of other parameters, except for the propionate, returns counterclockwise resulting in the hysteresis phenomena.