Prenatal diagnosis of respiratory chain deficiency by direct mutation screening

Respiratory chain deficiency (RCD) is responsible for a clinically heterogeneous group of early-onset untreatable disorders. Enzymological prenatal diagnosis (PD) can only be offered to a fraction of families. Moreover, due to the two-fold genetic origin of the respiratory chain (nuclear and mitochondrial DNA) and owing to the large number of nuclear genes involved in the respiratory chain assembly, maintenance and functioning, the identification of the disease causing gene in a given family remains challenging. Here, we report on PD of RCD by direct screening of NDUFV1, SDH-Fp, SCO1 and SURF1 mutations in five unrelated families with complex I, II and IV deficiency, respectively. The identification of the disease-causing gene in a given family with RCD is a major issue to provide both adequate genetic counselling and early, reliable PD. Copyright © 2001 John Wiley & Sons, Ltd.     

Adsorption of DBT and 4,6-DMDBTon nanoporous activated carbons: the role of surface chemistry and the solvent

Environmental Science and Pollution Research - Adsorption of dibenzothiophene (DBT) and 4,6-dimethyldibenzothiophene (4,6-DMDBT) from solutions in hexane and hexadecane respectively as well as in...     

PET-modified red mud as catalysts for oxidative desulfurization reactions

This work describes the synthesis of catalysts based on red mud/polyethylene terephthalate(PET) composites and their subsequent heat treatment under N2 atmosphere.The materials were characterized by scanning electron microscopy(SEM),temperature programmed reduction(TPR),Fourier transform infrared spectroscopy(FT–IR),X-ray diffraction(XRD),thermogravimetric(TG) analysis and N2adsorption/desorption.The catalysts were evaluated in the oxidative desulfurization reaction of dibenzothiophene(DBT) in a biphasic system.The results indicated that the PET impregnation on red mud increased the affinity of the catalyst with the nonpolar phase(fuel),in which the contaminant was dissolved,allowing a higher conversion(up to 80%) and selectivity to the corresponding dibenzothiophene sulfone.The sulfone compound is more polar than DBT and diffused into the polar solvent as indicated by the data obtained via gas chromatography–mass spectrometry(GC–MS).     

Hydrogeochemistry and statistical analysis applied to understand fluoride provenance in the Guarani Aquifer System, Southern Brazil

High fluoride concentrations (up to 11 mg/L) have been reported in the groundwater of the Guarani Aquifer System (Santa Maria Formation) in the central region of the state of Rio Grande do Sul, Southern Brazil. In this area, dental fluorosis is an endemic disease. This paper presents the geochemical data and the combination of statistical analysis (Principal components and cluster analyses) and geochemical modeling to achieve the hydrogeochemistry of the groundwater and discusses the possible fluoride origin. The groundwater from the Santa Maria Formation is comprised of four different geochemical groups. The first group corresponds to a sodium chloride groundwater which evolves to sodium bicarbonate, the second one, both containing fluoride anomalies. The third group is represented by calcium bicarbonate groundwater, and in the fourth, magnesium is the distinctive parameter. The statistical and geochemical analyses supported by isotopic measurements indicated that groundwater may have originated from mixtures of deeper aquifers and the fluoride concentrations could be derived from rock/water interactions (e.g., desorption from clay minerals).