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.     

A closed-chamber CO2-flux method for estimating intertidal primary production and respiration under emersed conditions

This paper describes a closed-chamber method for measuring CO₂ fluxes in intertidal soft sediments during periods of emersion. The method relies on closed-circuit incubations of undisturbed sediment and measurement of CO₂ exchanges using an infrared gas analyser. The method was assessed during field experiments, both in light and dark conditions, on an exposed sandy beach and in an estuary. The rates of gross community production measured under moderate irradiance (4.2 mg C m^-2 h^-1 on the exposed sandy beach and 35 mg C m^-2 h^-1 in the estuary) are in good agreement with rates reported in the literature. In conjunction with appropriate sampling strategies, this method can be useful for estimating and comparing production of intertidal areas or for assessing factors that influence production.     

Revisiting the plant hyperaccumulation criteria to rare plants and earth abundant elements

The several established criteria to define a hyperaccumulator plant were applied to a rare and endangered species, Plantago almogravensis, and to the 3rd most abundant element in the earth crust, Al. Using the most common criteria, P. almogravensis undoubtedly is an Al hyperaccumulator plant. If the recent proposed requirements were considered, most of them matching those for a plant to be used in phytoextraction, it can only be considered an unusual accumulator of Al. A discussion is made concerning the several criteria of a hyperaccumulator plant in order to include rare and endemic ones and abundant elements. In ecological terms, the enrichment in Al and Fe observed may account for the differences in the vegetation pattern. Due to the rarity and endangered nature of this plant, the contribution of this work is also relevant for the ecological understanding and the development of conservation options of this endemic species.     

Temperature and water pressure head effects on the degradation of the diketonitrile metabolite of isoxaflutole in a loamy soil under two tillage systems

Laboratory studies were conducted to evaluate the effects of temperature and water pressure head on the degradation of the diketonitrile metabolite (DKN) of isoxaflutole during 84 d in samples collected in a loamy soil under conventional (CT) and conservation (MT) tillage systems. Soil temperature was the major factor controlling DKN degradation in the two tillage systems. The shortest half-lives (T_1/2) were measured in the seedbed samples under MT at 25 °C and −33 cm water pressure head. We found that mouldboard ploughing under CT was responsible for the spatial variability of herbicide degradation properties, whereas under MT herbicide degradation was associated to the vertical distribution of organic matter.     

Fetal phenotype of Prader–Willi syndrome due to maternal disomy for chromosome 15

Prader–Willi syndrome (PWS) results from either paternal deletion of 15q11–q13, or maternal uniparental disomy (UPD) of chromosome 15 or imprinting center mutation. Prenatal diagnosis of PWS is currently indicated for chromosomal parental translocation involving chromosome 15 and for decreased fetal movements during the third trimester of gestation. Here we present the prenatal diagnosis of PWS during the first trimester of gestation and autopsy findings. Chorionic villus sampling (CVS) was performed for advanced maternal age at 13 weeks' gestation. CVS showed mosaicism including cells with a normal karyotype and cells with trisomy 15. Amniocentesis showed cells with a normal karyotype. Molecular analysis demonstrated that the fetus had a typical PWS abnormal methylation profile and maternal disomy for chromosome 15. Fetal ultrasound examination showed slightly enlarged lateral ventricles and hypoplasic male external genitalia without intra-uterine growth retardation. The autopsy showed a eutrophic male fetus with facial dysmorphy, hypoplasic genitalia, abnormal position of both feet and posterior hypoplasia of the corpus callosum. This report points out that in a karyotypically normal fetus with ambiguous male external genitalia and cerebral anomalies, extensive cytogenetic and molecular biology studies are strongly recommended because of risk of PWS. Copyright © 2003 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.     

Calmodulin as a modulator of NaCl transport in the posterior salt-transporting gills of the Chinese crab Eriocheir sinensis

The possible involvement of calmodulin-dependent processes in the control of Na⁺ and Cl^- transport pathways has been investigated on isolated, perfused preparations of salt-transporting posterior gills of the euryhaline Chinese crab Eriocheir sinensis (collected near Emden, Germany in autumn 1990). The anti-calmodulin phenothiazine drugs Chlorpromazine and Trifluoperazine induced depolarization of the transepithelial potential only when added to the serosal bathing saline (socalled in). This effect is best interpreted by assuming a disturbance of the conductive Cl^- pathways located at the baso-lateral side of the epithelium. In agreement with that conclusion is the fact that Trifluoperazine inhibits the Cl^- transepithelial influx. Trifluoperazine also induces inhibition of the Na⁺ influx when added either to the incubation (out) or to the perfusion (in) medium. These results indicate inhibitory effects of the anticalmodulin drug on both the Na⁺/K⁺ pump and leak system located at the serosal side and on the Na⁺/H⁺ exchange located at the apical side of the epithelium.