Interstitial deletions without phenotypic effect: Prenatal diagnosis of a new family and brief review

A 39-year-old woman (G4P1SAB2) was referred for amniocentesis for advanced maternal age. An interstitial deletion of the G-dark band 11 pi 2 was found in the fetus. Blood from the mother and her previous son was cultured and the same deletion was found in both. The absence of phenotypic effect in this family further confirms that G-dark euchromatic deletions are compatible with a normal phenotype, and underlines the importance of checking familial karyotypes even when apparently unbalanced structural rearrangements are found at prenatal diagnosis.     

The imprecision in rates of down syndrome by 1-year maternal age intervals: A critical analysis of rates used in biochemical screening

Current algorithms to determine eligibility for prenatal cytogenetic diagnostic services depend critically on the accuracy and precision of the underlying rates of cytogenetic abnormality used in the calculations. We examine the maternal age-specific rates of Down syndrome livebirths in eight studies of European-origin populations, pooled rates from which are widely used for baseline calculations in biochemical screening. These studies vary significantly in such factors as methods of ascertainment of cases, likelihood of complete ascertainment, and methods of correction, if any, for underascertainment. Restriction of analysis to those two studies among the eight whose methods suggest the greatest likelihood of complete ascertainment for Down syndrome generates rates significantly higher than those in widespread use. Confidence intervals about previously reported and currently derived rates indicate that even with large-scale data, there is considerable residual uncertainty in derived rates.     

降水异常对三峡工程建设的影响

利用三峡库区17个站1997年的逐日降水资料,分析了三峡库区1997年的降水特点．结果表明,异常偏少的降水为大江截流成功提供了有利的天气气候条件;同时,从气候学角度指出,大江截流以后的施工期间仍面临着严峻的气候异常风险,应引起有关部门特别注意．     

Environmental quality of mussel farms in the Vigo estuary: pollution by PAHs, origin and effects on reproduction

This work analyzes the influence of environmental and physiological parameters on PAHs accumulation in cultured mussels. Lipid content and reproductive stage are directly related with PAHs accumulation pattern. We observed a rapid accumulation and depuration of PAHs, mainly during periods of nutrients accumulation, spawns and gonadic restorations. Correlations between PAHs accumulation and physiological status indicate when mussels are more susceptible to adverse effects of these pollutants. A positive correlation between mutagenic congener’s accumulation and occurrence of gonadic neoplastic disorders is shown for the first time in mussels. Molecular indices were used to identify the origin of hydrocarbons accumulated by Mytilus, showing a chronic pyrolytic pollution and pollutant episodes by petrogenic sources and biomass combustion in the studied area. Multivariate analysis suggests the possibility of including physiological parameters of sentinel organisms in environmental biomonitoring programs, mainly in aquaculture areas, taking into account their two aspects: farms productivity and human food safety.