HLA-A,B,C,DR typing and 17-OHP determination for second trimester prenatal diagnosis of 21-hydroxylase deficient CAH

In 18 families at risk for the HLA-linked, 21-hydroxylase deficient form of autosomal recessive congenital adrenal hyperplasia (CAH), prenatal diagnosis (PD) was performed using two methods: (1) HLA-A,B,C typing and in the latter 11 cases also DR typing of cultured amniotic fluid cells (AFC) using the standard microcytotoxicity assay, and (2) measurement of second trimester amniotic fluid 17-hydroxyprogesterone (17-OHP) concentration using gel chromatography and radioimmunoassay. The accuracy of the prenatal predictions was confirmed by postnatal HLA typing of umbilical cord blood lymphocytes and by clinical evaluation. In 16/18 families, both HLA typing of AFC and 17-OHP measurements proved informative for PD. The predictions of both methods were concordant in 14/16 families (88 per cent). In ten of these families, a normal fetus was predicted, and in four, an affected fetus; all pregnancies were carried to term and all predictions were confirmed postnatally. In 2/16 cases (12 per cent), however, the predictions were discordant: the prenatal HLA typing indicated an affected fetus, whereas the 17-OHP values predicted a normal fetus. Both pregnancies were continued and two healthy boys were delivered. The discordance proved to be due to a ‘missed’ HLA antigen in one case and to serologically cross-reactive HLA antigens in the second. Finally, in 2/18 cases, prenatal assessment of fetal genotype had to rely on HLA typing alone as 17-OHP measurement was not performed in one family and in the second family the 17-OHP values obtained were not informative due to inadvertent continuation of hormone therapy to the date of amniocentesis. In both cases, the HLA typing data accurately predicted a normal fetus. In conclusion, a combination of HLA typing of cultured AFC and 17-OHP measurements of amniotic fluid permits accurate prenatal diagnosis of CAH in most cases (88 per cent). In addition, the supplementary use of HLA-DR typing of AFC as presented here for the first time proved helpful in families with HLA-A.B homozygosity due to parental sharing of antigens and can be informative for identifying HLA-B/21-OH recombinant haplotypes.     

Zum Verdampfen und anderen Eigenschaften Schwarzer Löcher

After a short discussion of the basic properties of black-hole physics, including the “no-hair” theorems, the hypothesis of the “cosmic censor” and the first and second law of black-hole dynamics, we proceed to the thermodynamics of black holes. The concepts of entropy and temperature of a black hole are explained and the generalized second law of black-hole dynamics is presented. We then discuss particle creation in the gravitational fields of black holes and their lifetime due to evaporation. After a digression on chaotic cosmology the possible formation of black holes in the early universe is treated. Finally we discuss the last violent stages of the evaporation process of black holes and possible observational tests. A few remarks on white holes — though a totally different phenomenon — are included at the end for the sake of clarity.     

A simple electrophoretic procedure for fetal diagnosis of β-thalassaemia due to short deletions

This study describes three couples a t risk for homozygous β-thalassaemia in which one of the partners carried a short deletion β-thalassaemia defect. Detection of short deletions in trophoblast DNA was accomplished by the very simple procedure of non-denaturing polyacrylamide gel electrophoresis. This method may be applied to detect β-thalassaemia mutations due to deletion or addition of more than two nucleotides.     

A novel L1CAM mutation with L1 spectrum disorders

X-linked hydrocephalus, HSAS (hydrocephalus due to stenosis of aqueduct of Sylvius), MASA (mental retardation, aphasia, shuffling gait, and adducted thumbs), and CRASH (corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus) syndromes are allelic disorders. X-linked hydrocephalus and associated phenotypes are due to mutations in the L1CAM gene, which has been identified as a coding neural cell adhesion molecule. We report two cases of L1 spectrum disorders within the same family. The first case was diagnosed by ultrasonographic examination prenatally and the second case was diagnosed postnatally. Both patients and their mothers carry a novel mutation of the L1CAM gene. In this family, nine X-linked hydrocephalus and five female carriers were found in three generations, and molecular genetic analysis was performed to detect the asymptomatic carriers. Copyright © 2005 John Wiley & Sons, Ltd.     

Prenatal diagnosis of congenital adrenal hyperplasia (21-OH deficiency type) by HLA typing

The close genetic linkage between HLA-B and congenital adrenal hyperplasia due to 21-hydroxylase deficiency permits prenatal diagnosis of an affected fetus by HLA typing of amniotic fluid cells in pregnancies at risk. Some families at risk, especially those with an affected girl with ambiguous genitalia, will only plan another pregnancy if a prenatal diagnosis is possible. After HLA typing of the index case, parents and eventually grandparents, the family were informed of the possibility of a prenatal diagnosis. Fibroblast cell lines were initiated from skin biopsies of the index cases and parents and were used as controls in the tests. HLA typing of the fetus was done on amniotic fluid cells grown in vitro using first, a microcytotoxicity test and second quantitative microabsorption test. Ten prenatal diagnoses are reported. In two cases the HLA genotype indicated an affected fetus, examination of the aborted fetuses was in agreement with the diagnosis. In one case an affected male fetus was diagnosed, the pregnancy is in progress. In seven cases an unaffected infant was predicted (four carriers and three homozygous normal infants).     

A Dynamic Crediting Regime for Joint Implementation to Foster Innovation in the Long Term

Joint Implementation is a theoretically efficient instrument of climate policy at least in the short run. This need not apply for the long run. Joint Implementation can reduce innovation in the industrialized countries because of reduced incentives for emission reduction. To realize short run efficiency gains and to avoid long run efficiency losses, we need a ‘strategic’ climate policy. This policy should start with full crediting of Joint Implementation allowing short-run efficiency gains which can foster technology transfer and thus lead to ‘leapfrogging’ by developing countries. Over time, the crediting ratio should be gradually reduced while domestic carbon taxes are raised. Experiences from the second oil shock have shown that energy-saving innovation is positively correlated to energy prices. Both, the reduced crediting and the raising domestic carbon tax, will therefore lead to long-run innovation.     

Megacystis-microcolon-intestinal hypoperistalsis syndrome in two male siblings

Two male sibs with severe congenital megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) are presented. Both had enlarged bladder and hydronephrosis due to reduced bladder emptying, decreased bowel motility, and malrotation of the colon. Repeated careful ultrasound examination of the urinary tract in the second sib failed to show significant bladder enlargement prior to 25 weeks' gestation, which has been considered to be a reliable prenatal diagnostic sign for MMIHS. Slight bilateral enlargement of the renal pelves was noted at 21 weeks' gestation, and this may represent the earliest prenatally-detectable observation in this disease. Although more females than males with this condition have been reported, our cases provide support for an autosomal recessive mode of inheritance with a similar recurrence risk for both sexes.     

Mid-trimester fetal ultrasound: Diagnostic dilemmas

Two cases are reported in which an unusual ultrasound finding preceded diagnostic amniocentesis and led to further work-up. In both cases a decision was made to terminate the pregnancy. One fetus in which a neck mass was detected by ultrasound was shown to be normal on post-mortem examination. The second fetus was aborted because of Rh sensitization and had the abnormality seen by ultrasound. However, this lesion, calcified intrahepatic plaques, had no presumed pathological significance. These cases suggest caution in the interpretation of results obtained with the new technologies used for prenatal diagnosis.     

浅议我国电子垃圾的回收

我国的电子垃圾回收利用基本处于失控状态，缺乏监管。回收处理方式：一是作为普通垃圾被填埋；二是对于尚能使用的废弃电子产品拿到旧货市场贩卖，不能使用的则私自拆解，回收提炼贵金属，丢弃不能利用的产品，对环境产生极大危害。因此，应建立和完善电子垃圾回收处理法规体系，回收利用体系，开发电子废物处理利用的新技术，改变无序发展状态。     

Restrictive dermopathy and fetal behaviour

We report three siblings from consecutive pregnancies affected with restrictive dermopathy (RD). During the second pregnancy, fetal behavioural development and growth were studied extensively using ultrasound at 1–4 week intervals. Dramatic and sudden changes occurred in fetal body movements and growth but not until the end of the second trimester of pregnancy. Prominent at that time were prolonged periods of fetal quiescence and very low heart rate variability, together with abnormally executed body movements of short duration. Retarded femoral development and jerky abrupt fetal body movements (abnormal movement quality) were already present in the early second trimester of pregnancy. Facial anomalies emerged despite the presence of fetal mouth movements. The clinical features of RD were only partly explained by present knowledge of skin development and the fetal akinesia deformation sequence hypothesis. Quantitative assessment of fetal movements proved to be a poor early marker for antenatal diagnosis of this disorder. Copyright © 2001 John Wiley & Sons, Ltd.     

Swimming obstructed by dead-water

In nautical literature, ‘dead-water’ refers to the obstructive effect encountered by ships moving in stratified water due to the ship generating waves on an interface that separates different water masses. To investigate the hypothesis that open water swimming may also be obstructed by an encounter of dead-water, possibly causing drowning, we performed two experiments that assess the impact of stratified water on swimming. In the first experiment, subjects made a single front-crawl stroke while lying on a carriage that was rolling just above the water surface. The gain in kinetic energy, as a result of the stroke, was far less in stratified than in homogeneous water. In the second experiment, four subjects swam a short distance (5 m) in homogeneous and in two different settings of stratified water. At the same stroke frequency, swimming in stratified conditions was slower by 15%, implying a loss in propulsive power by 40%. Although in nature stratification will be less strong, extrapolation of the results suggests that dead-water might indeed obstruct swimming in open water as well. This effect will be most pronounced during fair weather, when stratification of a shallow surface layer is most easily established. Our findings indicate that swimmers’ anecdotal evidence on ‘water behaving strangely’ may have to be taken more seriously than previously thought.     

Prenatal diagnosis of lethal osteogenesis imperfecta (OI) by ultrasonography

Ultrasonography was performed during the second trimester (17 weeks) in a pregnancy at risk for osteogenesis imperfecta congenita (OI). The scan showed that the femur was short, bent and dense. Radiologic examination of the fetus after interruption of pregnancy showed typical X-ray changes of OI.     

Hg~(2+)对剩余污泥厌氧消化过程中物质释放的影响

以某采用A/O生物除磷工艺的污水处理厂排出的富磷剩余污泥为研究对象,设计两组厌氧消化比较试验,考察了Hg2+的毒性对剩余污泥厌氧消化过程中SCOD、VSS、SOP等相关指标的影响,藉此讨论相关物质的释放机制。结果发现,Hg2+的投加可以促进剩余污泥的水解,造成了短期内VSS的快速下降以及SOP的快速释放。当HgCl2投加量为0.25 g/L时,这个短期的时间尺度持续4 d左右;4 d以后,由于HgCl2对产甲烷菌、产酸菌以及聚磷菌均会产生不利影响,HgCl2开始抑制消化过程的进行,导致SCOD积累,VSS、SOP等释放速度减缓。这表明HgCl2可以促进水解释磷,抑制生物释磷。总体而言,投加HgCl2对剩余污泥中磷的释放是不利的。     

Mesomelic campomelia,polydactyly and Dandy–Walker cyst in siblings

The present report describes two fetuses, one female and one male, with thus far undescribed skeletal malformations. The mother was a gravida 2, para 0. Both pregnancies were terminated in the second trimester because of multiple congenital anomalies diagnosed ultrasonographically resembling a short rib-polydactyly syndrome. Both fetuses were found to have postaxial hexadactyly of the hands and feet, marked bilateral campomelia of the forearm and shank bones, and a Dandy–Walker cyst. In addition, the fourth ventricle was dilated in the first sibling and the second sibling had an inverse intestinal malrotation. A literature search failed to reveal similar observations. Copyright © 2001 John Wiley & Sons, Ltd.     

Scouts behave as streakers in honeybee swarms

Harmonic radar tracking was used to record the flights of scout bees during takeoff and initial flight path of two honeybee swarms. One swarm remained intact and performed a full flight to a destination beyond the range of the harmonic radar, while a second swarm disintegrated within the range of the radar and most of the bees returned to the queen. The initial stretch of the full flight is characterized by accelerating speed, whereas the disintegrating swarm flew steadily at low speed. The two scouts in the swarm displaying full flight performed characteristic flight maneuvers. They flew at high speed when traveling in the direction of their destination and slowed down or returned over short stretches at low speed. Scouts in the disintegrating swarm did not exhibit the same kind of characteristic flight performance. Our data support the streaker bee hypothesis proposing that scout bees guide the swarm by traveling at high speed in the direction of the new nest site for short stretches of flight and slowing down when reversing flight direction.     

大型水库建设固体废弃物的环境影响

在大型水库建成初期，由于淹没的土壤和残留物释放污染物，水体可能出现短期水质沉浊现象，头三年内细菌总数及其生物量增长１．５－２０倍，异养细菌增长３－１０倍，以后逐渐降低．应在水库蓄水前彻底消除可能危害水环境的污染物质。     

Seven cases of trisomy 3 mosaicism in chorionic villi

This paper describes seven cases of confined chorionic mosaicism with trisomy 3. The chromosomally abnormal cell line in chorionic villi was revealed in three cases at diagnostic CVS and in four cases at the evacuation of the uterine cavity after a missed abortion had been diagnosed by ultrasound. In two of these cases, the abortion occurred after apparently normal development of the fetus during the second trimester of pregnancy. An evaluation of the effect of confined chorionic mosaicism with trisomy 3 on the viability of the conceptus has been attempted.     

Transabdominal chorionic villus sampling. Clinical experience of 1159 cases

The efficacy and risks of transabdominal free-hand ultrasound-guided fine needle aspiration technique were evaluated in 1159 pregnancies submitted to chorionic villus sampling (CVS) in the first trimester and early in the second trimester. An adequate amount of chorionic tissue was obtained by two needle insertions in 99·7 per cent of cases, and a second tapping was needed in 3·5 per cent of cases. A local peritoneal reaction was the only early complication clearly related to the procedure, and it occurred in 0·3 per pent of cases without any adverse effect on the maternal and fetal outcome. The correct abortion rate in 716 consecutive concluded pregnancies was 2·4 per cent, while the rate of late obstetrical complications and perinatal mortality and morbidity compares favourably with the rates in the general population. Because of its simplicity and practicability, transabdominal aspiration is the procedure of choice and is especially recommended fonintensive CVS routine conditions.     

Late-onset growth restriction in Galloway–Mowat syndrome: a case report

Galloway–Mowat syndrome (GMS) is a rare autosomal recessive disorder and is characterized by marked intrauterine growth retardation, central nervous system anomalies, and early onset nephrotic syndrome. Of the reported cases in the literature, all were diagnosed postnatally. We describe a case of GMS in which only late-onset intrauterine growth restriction was detected by prenatal ultrasound. In her fourth pregnancy, the mother had delivered a male baby with clinical features of GMS who died at seven months of age due to early onset of nephrotic syndrome. In her fifth pregnancy, serial ultrasound examinations were normal during the first and second trimester of pregnancy. Growth restriction and microcephaly were not detectable until 28 to 32 weeks' gestation. At 40 weeks' gestation, a female baby was born with dysmorphic features of GMS. Nephrotic syndrome developed after birth and renal biopsy revealed minimal change nephrotic syndrome. The prenatal course of this case suggests GMS may not be diagnosed in early pregnancy and the only abnormality detected before birth was intrauterine growth restriction. Copyright © 2005 John Wiley & Sons, Ltd.     

Second trimester two-step trisomy 18 screening using maternal serum markers

Trisomy 21 maternal serum marker screening has led to screening for other anomalies, including trisomy 18. Trisomy 18 is generally prenatally diagnosed because of major morphological defects. However, in up to 30% of cases ultrasound signs are unclear, and in most cases diagnosis is performed late in pregnancy. Of the different maternal serum markers, PAPP-A is now considered as the best for trisomy 18 screening. However, pregnancy-associated plasma protein A (PAPP-A) is of value in first trimester screening for trisomy 21, but not in the second trimester. We therefore propose a two-step screening strategy. Based on 45 trisomy 18 cases, we confirm the values of alpha-fetoprotein (AFP) (median 0.61 MoM), free β-human chorionic gonadotrophin (β-hCG) (median 0.24 MoM) and of PAPP-A (median 0.08 MoM). In the first step, a 0.5 MoM cut-off for AFP or for free β-hCG resulted in detection of 37/45 trisomy 18 cases (82%) with a 10% false-positive rate. The second step consisted of the measurement of PAPP-A for all these false-positive cases. Using a PAPP-A cut-off of 0.5 MoM, all the 37 trisomy 18 cases were detected, but now with a 0.1–0.2% false-positive rate. Amniocentesis was only offered to these few patients. This two-step second trimester screening will be of value for patients who have not been included in first trimester screening based on nuchal translucency (NT) measurement combined with the first trimester markers, PAPP-A and free β-hCG. Copyright © 2002 John Wiley & Sons, Ltd.