Prenatal diagnosis and intrafamilial clinical heterogeneity of Fraser syndrome

Fraser syndrome (MIM 219000) is a rare disorder of autosomal recessive inheritance, characterized by the association of cryptophthalmos, syndactyly and genital abnormalities. Here we report on two cases of Fraser syndrome (cryptophthalmos syndrome) in a non-consanguineous couple, with variable expression in echographic, clinical and autopsy findings. Furthermore, we highlight the difficulties in prenatal diagnosis of Fraser syndrome. Copyright © 2002 John Wiley & Sons, Ltd.     

Prenatal diagnosis of Juberg–Hayward syndrome

Juberg–Hayward syndrome is a rare autosomal recessive syndrome characterised by the association of growth retardation, microcephaly, cleft lip and palate, and thumb and radial ray abnormalities. To date, no prenatal cases have been reported. Here, we report on the first prenatal case of Juberg–Hayward syndrome. The diagnosis was established following fetopathological study. Besides the cardinal features of the syndrome, this prenatal case was remarkable for the severity of the short arm malformation and by the finding of big toe agenesis and cerebral abnormalities including hydrocephalus, agenesis of corpus callosum, and cerebellar hypoplasia. We conclude that the diagnosis of Juberg–Hayward syndrome can be discussed prenatally following ultrasound diagnosis of the association of intrauterine growth restriction, microcephaly, thumb/radial anomalies, and cleft lip/palate. Copyright © 2005 John Wiley & Sons, Ltd.     

Seasonal variations in physico-chemical characteristics of River Yamuna in Haryana and its ecological best-designated use

Various physico-chemical characteristics of the River Yamuna flowing in Haryana through Delhi were studied in the summer (April 1998) and winter (Jan.-Feb. 1999). Ecological parameters like dissolved oxygen (DO), pH, nitrate (NO3-), sulfate (SO4(2-)), and phosphate (PO4(3-)), were analyzed and compared with standard permissible limits to assess the best-designated use of the river water for various purposes. The river in Delhi upstream was of better quality whereas the Delhi downstream stretch was polluted as indicated by very low DO and high total dissolved solids (TDS), electric conductivity (EC), total hardness, Na+, K+, Cl-, F- and SO4(2-). The differences in various parameters were statistically significant (p < 0.01) when compared for the Delhi upstream and downstream stretches of the river, particularly in summer. DO and TDS were found to be two important parameters, which showed strong correlation with several other parameters and hence can serve as good indices of river water quality. The river tended to recover from the pollution stress after flowing through a distance of about 80 km downstream of Delhi.     

Adenine nucleotides in snail muscles as one of biomarkers of fluoride toxicity

The aim of this work was to determine the extent of bioaccumulation of fluorides in tissues of Helix aspersa maxima. The toxicity of fluorides administered orally on the energy balance of the snail's foot was investigated based on measurements of concentrations of adenine nucleotides and their metabolism degradation products. Quantitation of fluoride levels was done in soft tissues (foot, hepatopancreas) and shells of mature snails. Qualitative and quantitative analysis of purine compounds was performed in slices of foot from mature snails. Fluoride concentrations in pulverized shells were measured using an ion-selective electrode. Gas chromatography was used to determine fluoride concentrations in soft tissues (hepatopancreas and foot). Purines were measured in foot muscle slices with high-performance liquid chromatography (HPLC). Fluoride levels in soft tissues of the snail cannot serve as an indicator for biomonitoring purposes as no significant accumulation was observed during exposure to maximum allowable concentrations of fluoride in drinking water. Contrary to this, levels of fluoride in the shell rose significantly with this concentration of fluoride in drinking water. The effect of fluorides on energy metabolism of foot muscle was evidenced by elevated AMP levels, increased adenine nucleotide pool and reduced conversion of ADP to ATP. Exposure to rising F(-) concentrations was accompanied by decreasing values of the adenylate energy charge AEC. Determination of AMP or AEC in foot muscle of exposed snails seems to be a useful indicator of fluoride effects on metabolic activity.     

Zur Biotransformation des 1-Äthinylcyclohexylallophanats-(1)

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