A case of ring chromosome 22 with deletion of the 22q13.3 region associated with agenesis of the corpus callosum,fornix and septum pellucidum

We report a 16-week-gestation foetus obtained by voluntary abortion after prenatal diagnosis, in which a ring chromosome 22 was observed with deletion of the 22q13.3 region. A prenatal study of the amniotic fluid by standard chromosome technique with G bands and FISH (fluorescence in situ hybridisation) was performed. After the abortion, the anatomopathological study of the obtained foetus was carried out. Morphological and histological analysis of the foetus did not reveal severe physical abnormalities, although alterations of the nervous system were observed consisting of corpus callosum, fornix and septum pellucidum agenesia. It could be that the genes in this region that were involved in the development of the central nervous system were responsible for the alterations found in the morphological study. The wide range of manifestations observed in patients with this cytogenetic alteration is probably due to size differences in the deleted region. Copyright © 2004 John Wiley & Sons, Ltd.     

Accuracy of ultrasound diagnoses in pregnancies complicated by suspected fetal anomalies

Referral of pregnancies complicated by suspected fetal anomalies to level III perinatal centres for further evaluation and management is increasing as use of real-time ultrasound spreads, but the sensitivity and specificity of the prenatal diagnoses made in this population are unknown. We undertook a prospective study that followed pregnancies referred to a designated programme dealing with suspected fetal abnormalities. Follow-up of 257 pregnancies revealed that 282 separate anomalies were accurately diagnosed in 212 cases. Normal anatomy was correctly predicted in 42 cases, 16 per cent of the referred population. False-positive and false-negative rates were 1·5 per cent (4/257) and 2 per cent (1/46), respectively. However, 37 per cent of those infants born with anomalies had additional problems not prenatally detected by ultrasound. These results indicate that prenatal ultrasound diagnoses are remarkably accurate overall but that they may be insensitive to associated anomalies in individual cases.     

一种确定地球化学异常下限的简便方法

本文从地球化学场元素的分布形式出发 ,探讨了理论分布形式的频率与含量双对数坐标图示特征 ,从而提出了一种确定地球化学异常下限的简便方法。将该方法应用于湖南柿竹园钨多金属矿区 ,效果显著     

The toxic and environmental evaluation of pyrolytic liquids by Allium cepa test

In this study, liquid products obtained from the pyrolysis of hazelnut shell (HS), with and without ultra-high molecular weight polyethylene (UHMWPE), were subjected to the Allium cepa test system. Pyrolysis in conjunction with the A. cepa test is a promising technology not only from the perspective of energy savings and a source of precious material, but in terms of the removal of hazardous material from the environment in safe manner. Dosages of pyrolytic liquids dissolved in water were determined according to lethal dose (LD₅₀), with three different solution concentrations. The preparates were dyed with acetocarmine. The mitotic index decreased and chromosomal aberration, especially stickiness and c-mitosis, increased with dosage and time. The addition of UHMWPE to HS in the pyrolysis process resulted in less harmful chemical agents, as observed by the relatively higher mitotic index and lower levels of chromosomal aberration.     

Transvaginal sonographic detection of skeletal anomalies in the first and early second trimesters

We report the detection of 42 cases of musculoskeletal anomalies routinely screened by transvaginal sonography at 12-16 weeks of gestation out of 7325 examined pregnant women (incidence of 0·57 per cent).