Prenatal diagnosis in two cases of de novo complex balanced chromosomal rearrangements. Three-year follow-up in one case

We report two cases of apparently balanced complex de novo chromosomal rearrangements (BCCR) detected prenatally at 17 weeks and 10 weeks of gestation, respectively. Chromosomes were studied using GTG-banding and fluorescent in situ hybridization (FISH). In one case four chromosomes and in the other case three chromosomes were involved in the rearrangements. One of the pregnancies was terminated and no external or internal abnormalities were detected at autopsy. The other pregnancy continued to term. Level III ultrasound examination showed no abnormalities. The child is now 3 years old and has neither congenital anomalies nor evidence of delayed psychomotor development.     

污泥减量化技术研究进展与发展趋势

污泥的处理与处置已成为国内外污水处理厂的沉重负担,污泥减量成为解决此问题的重要途径。针对污泥处理处置过程中的环境问题和经济效益,在隐性生长、代谢解偶联、微型动物捕食作用等方面阐述了在水处理方面污泥减量化技术的研究进展,综述了污泥减量技术的研究应用现状,同时探讨了各技术存在的问题及其重点发展方向。     

Unexpected structural chromosome rearrangements in prenatal diagnosis

Among 5315 prenatal diagnoses performed for various indications (maternal age, neural tube defect, metabolic diseases, X-linked diseases, pathologic pregnancies) 29 unexpected structural chromosome rearrangements were found in fetal cells. Fourteen were de novo chromosome rearrangements, six unbalanced, and eight balanced. Fifteen were inherited and balanced rearrangements. This high frequency of structural anomalies is discussed.     

Experiences with unexpected structural chromosome aberrations in prenatal diagnosis in a danish series

The investigation of 5547 prenatal diagnoses showed 31 unexpected structural chromosome rearrangements. These included 3 Robertsonian translocations, 14 reciprocal translocations and 14 inversions. A11 were balanced, including 5 de novo rearrangements. In 3 of these cases an induced abortion was performed and in 2 cases children without detectable malformations were delivered.     

污泥减量化技术的研究进展

从现阶段国内外污泥处理与处置在环境和经济方面存在的问题出发 ,阐明了研究污泥减量技术的紧迫性。根据生物处理工艺中影响剩余污泥产生的可能途径 ,将污泥减量技术分为降低细菌合成量的解偶联技术、增强微生物利用二次基质进行隐性生长的各种溶胞技术、利用食物链作用强化微型动物对细菌捕食的技术 ,介绍了各种技术的研究现状 ,并比较了减量效果和优缺点     

Outcome of cases of de novo structural rearrangements diagnosed at amniocentesis

The frequency of de novo rearrangements at amniocentesis was determined in 76952 prenatal diagnoses from centres in the United States. Rates for balanced rearrangements are slightly greater than rates previously reported in the newborn, possibly because banding studies were not used in the latter. Rates for unbalanced rearrangements are considerably higher in the amniocentesis data not only because banding was used but also because a substantial loss of abnormal conceptions is to be expected between amniocentesis and birth. The higher frequency of cases with supernumerary markers at amniocentesis is unexplained. A review of 66 apparently balanced de novo rearrangements found at amniocentesis revealed evidence of abnormality in five; in four of these the abnormality was noted in the abortus. The number of cases observed is still too small to rule out a risk of abnormality no greater than the usual rate of abnormalities at birth. Abnormalities were detected in 6 of 10 cases with unbalanced de novo rearrangements. In 33 cases of non-familial supernumerary chromosomes 6 (18.2 per cent) showed abnormality. Non-satellited markers appeared to have a higher rate of abnormality than satellited markers but the difference is not statistically significant. Further studies and improved follow-up of de NOVO cases diagnosed at amniocentesis are required.     

Biofluorescence as a survey tool for cryptic marine species

As ecosystems come under increasing anthropogenic pressure, rare species face the highest risk of extinction. Paradoxically, data necessary to evaluate the conservation status of rare species are often lacking because of the challenges of detecting species with low abundance. One group of fishes subject to this undersampling bias are those with cryptic body patterns. Twenty‐one percent of cryptic fish species assessed for their extinction risk (International Union for Conservation of Nature [IUCN]) are data deficient. We developed a nondestructive method for surveying cryptically patterned marine fishes based on the presence of biofluorescence (underwater biofluorescence census, UBC). Blue LED torches were used to investigate how widespread biofluorescence was in cryptic reef fishes in the Coral Triangle region. The effectiveness of UBC to generate abundance data was tested on a data‐deficient pygmy seahorse species (Hippocampus bargibanti) and compared with data obtained from standard underwater visual census (UVC) surveys. We recorded 95 reef fish species displaying biofluorescence, 73 of which had not been previously described as biofluorescent. Of those fish with cryptic patterns, 87% were biofluorescent compared with 9% for noncryptic fishes. The probability of species displaying biofluorescence was 70.9 times greater for cryptic species than for noncryptic species. Almost twice the number of H. bargibanti was counted using the UBC compared with UVC. For 2 triplefin species (Ucla xenogrammus, Enneapterygius tutuilae), the abundance detected with UBC was triple that detected with UVC. The UBC method was effective at finding cryptic species that would otherwise be difficult to detect and thus will reduce interobserver variability inherent to UVC surveys. Biofluorescence is ubiquitous in cryptic fishes, making this method applicable across a wide range of species. Data collected using UBC could be used with multiple IUCN criteria to assess the extinction risk of cryptic species. Adopting this technique will enhance researchers’ ability to survey cryptic species and facilitate management and conservation of cryptic marine species.