Prenatal diagnosis and outcomes of five cases of mosaicism for an isochromosome of 20q

Five cases of mosaicism for an isochromosome of 20q have been detected from a total of 50 000 cases analysed for prenatal diagnosis by amniocentesis. Karyotypes were designated mos 46,X_/46,X_,i(20q). In all cases, the abnormal cell line was detected in more than one primary culture, thus fulfilling the criterion for true (level III) mosaicism. Indications for prenatal diagnosis were parental anxiety (two cases), low maternal serum alpha-fetoprotein (AFP) (two cases), and high maternal serum AFP (one case). Level II ultrasounds on all five fetuses were normal, and the abnormal cell line was never detected in fetal blood and/or cord blood. All five pregnancies were continued and had normal outcomes, with birth weights ranging from 2.4 to 3.8 kg. The development of all five children has been normal, with the oldest child in the study now 4 years of age. We suggest that the abnormal cell line in each case was of extrafetal origin, and that this may be one of the more common examples of this phenomenon, occurring in approximately 1/10000 prenatal diagnoses. Mosaicism i(20q) may have been missed in the past because of the higher resolution necessary to detect this subtle change.     

Latest precambrian (Cadomian) zircon ages, Nd isotopic systematics and P-T evolution of granitoid orthogneisses of the Erzgebirge, Saxony and Czech Republic

Single zircons from two orthogneiss complexes, the Grey Gneiss and Red Gneiss, the lowermost tectonic units in the Erzgebirge, were dated. The grey Freiberg Gneiss is of igneous origin and has a ²⁰⁷Pb/²⁰⁶Pb emplacement age of 550±7 Ma. A quartz monzonite from Lauenstein contains idiomorphic zircons with a mean ²⁰⁷Pb/²⁰⁶Pb age of 555±7 Ma as well as xenocrysts ranging in age between 850 and 1910 Ma. Red gneisses from the central Erzgebirge contain complex zircon populations, including numerous xenocrysts up to 2464 Ma in age. The youngest, idiomorphic, zircons in all samples yielded uniform ²⁰⁷Pb/²⁰⁶Pb ages between 550±9 and 554±10 Ma. Nd isotopic data support the interpretation of crustal anatexis for the origin of both units. _Nd(t) values for the grey gneisses are –7.5 and –6.0 respectively, (mean crustal residence ages of 1.7–1.8 Ga). The red gneisses have a wider range in _Nd(t) values from –7.7 to –2.8 (T _DM ages of 1.4–1.8 Ga). The zircon ages document a distinct late Proterozoic phase of granitoid magmatism, similar in age to granitoids in the Lusatian block farther north-east. However, Palaeozoic deformation as well as medium pressure metamorphism ( 8 kbar/600–650° C) are identical in both gneiss units and distinguish these rocks from the Lusatian granitoids. The grey and red gneisses were overthrust by units with abundant high-pressure relicts and a contrasting P-T evolution. Zircon xenocryst and Nd model ages in the range 1000–1700 Ma are similar to those in granitoid rocks of Lusatia and the West-Sudetes, and document a pre-Cadomian basement in parts of east-central Europe that, chronologically, has similarities with the Sveconorwegian domain in the Baltic Shield.     

Diets of fan shells (Pinna nobilis) of different sizes: fatty acid profiling of digestive gland and adductor muscle

Pinna nobilis is a large bivalve, endemic to the Mediterranean Sea that was shown in a previous study to ingest significantly different proportions of different food items according to its shell height. Fatty acid profiling of total lipids was used to examine these differences in diet in relation to shell size. Small (shell height 23.0 ± 3.3 cm), medium (SH 41.5 ± 5.5 cm) and large (SH 62.7 ± 4.8 cm) P. nobilis were collected from Mali Ston Bay, Adriatic Sea, in March 2010, and fatty acid analysis was performed on digestive gland and adductor muscle tissues. Based on the analysis of the digestive gland, small P. nobilis were associated with a detrital food chain, characterized by saturated and branched-chain fatty acids, while the diets of medium and large individuals had a greater proportion of polyunsaturated fatty acids. This likely reflects the fact that smaller individuals feed within the benthic boundary layer where the detritus concentrations are high. Fatty acid incorporation into the adductor muscle, likely representative of food taken up over a longer time period, was reversed, that is, larger individuals had lower levels of polyunsaturated fatty acids. This most probably reflects energy expenditure, which typically increases with increasing organism size.     

Pluri-annual study of the reproduction of two Mediterranean Oscarella species (Porifera, Homoscleromorpha): cycle, sex-ratio, reproductive effort and phenology

This study presents the phenology of two common Mediterranean sponges belonging to the genus Oscarella (Porifera, Homoscleromorpha). Oscarella tuberculata and Oscarella lobularis are two sibling species, dwellers of shallow benthic communities which tend to have distinct ecological behavior, respectively, euryecious and rather stenoecious. The comparative study of their reproductive cycle showed that both Oscarella species have a seasonal reproductive cycle with a successive phase duration differing from one species to another. In both species, there is a continuous oogenesis, with new oocytes appearing in spring, whereas the spermatogenesis generally starts later with the early warming of the sea. The embryonic development and the larval release are restricted to the warmest months of the year. We also observed a shift in the period of gametogenesis and larval emission depending on species and differences in their sensitivity to changes in thermal regime. It appears that an increase in seawater temperature can affect sex determination, with mainly a shift toward males in both species. Their reproductive efforts are variable in time, and can be in some cases influenced by the temperature regime. This is especially the case of O. lobularis which seems to be the most thermosensitive, its phenology responding significantly to changes in thermal regime, whereas O. tuberculata seems to be less sensitive and/or reactive. By detecting phenological changes among sponges, this study demonstrated the relevance of such monitoring to assess the possible biological response to climate change.     

Concentrations and profiles of PCDD/Fs in sediments of major Polish rivers and the Gdansk Basin--Baltic Sea

The present state of contamination of bottom sediments in southern part of the Baltic Sea with PCDD/Fs was compared to the findings made for the north-western and eastern Baltic Sea coastal areas of Finland, Sweden and Denmark. The extent of the study area--from marine the Gdańsk Basin, the lower Oder and Vistula Rivers up till W?oc?awek reservoir--allowed to obtain the sediment samples with diversified properties. Dioxin's concentrations in sediments examined in the Polish costal area allows us to evaluate this zone as relatively less contaminated. Higher dioxin concentration has been found in Wloclawek Dam Reservoir. Differences in congener patterns and temporal changes in marine sediment profiles were examined. The highest concentrations of tetra- and penta-congeners still remain in the surface layer of Gdansk Deep, whereas the decline in concentrations of these most toxic congeners, have been observed in the sediments from some other parts of the Baltic coast. Excess concentration of dioxins in sediments has a great impact on human being due to special ability of accumulation in the trophic chain as well as in water (fishes) and land (milk, meat).     

Determination of lipid peroxidation and cytotoxicity in calcium, magnesium, titanium and hectorite (SHCa-1) suspensions

This paper reports data on the relative ability of CaO, CaCl₂, MgO, MgCl₂, TiO₂, and hectorite (SHCa-1) to induce oxidative stress (as determined by lipid peroxidation, LP) in biological matrices. The effectiveness of structural (oxide form) versus soluble Ca and Mg to induce LP is compared. An assessment on cytotoxicity as affected by soluble and structural Ca, Mg, TiO₂ and SHCa-1 is also addressed. LP was screened and monitored using the Thiobarbituric Acid Reactive Substances (TBARS). The extent of TBARS production was found to vary with the type and initial concentration of the soluble or structural cation, Ca or Mg respectively. Obtained results showed higher magnitude values for the latter set of experiments. In the presence of TiO₂ no significant TBARS production was detected pointing out a negligible effect of TiO₂ on LP. At solid concentrations ca. 100 ppm, CaO appears to be more effective than SHCa-1 to induce LP. By contrast at ca. 25 ppm, MgO appears to be more effective than the clay mineral. The SHCa-1 LP-inducing activity has been proven to closely relate to structural Ca. The prevalence of mechanisms that may induce LP but not cytotoxicity (as determined by cell growth inhibition) was also addressed. Results on cell growth inhibition as affected by soluble and structural Ca, Mg, TiO₂ and hectorite provide evidence to support that structural Ca or Mg brings about significantly higher variations than soluble Ca.     

The influence of sorption material preparation on the removal of metal ions from the aqueous solution

ABSTRACT

Very important in adsorption processes is the preparation of material sorbents and from this reason, the impact of washing agent of raw sorbent was analysed. The adsorption capacity was studied in relation to the function of the equilibrium time, the amount of biosorbent and the initial metal(II) ions concentration. In this research for the sake of comparison, the sorptive properties of out-of-date coffee were compared to coffee washed with different agents (mineral acids and water). The scanning electron microscopy and Fourier transform infrared spectroscopy were used to characterise the biosorbents and to identify the functional groups that participated in metal(II) ions bonding. The obtained results clearly indicate that the out-of-date coffee are effective biosorbent for cadmium(II) and nickel(II) ions from aqueous solution. However, for metal(II) ions removal efficiency could influence sorbent preparation and nickel(II) ions were best adsorbed on coffee washed with water, but cadmium(II) ions on raw biosorbent (out-of-date coffee). The best results of sorption were achieved after the contact time of 30 and 60?min, respectively for cadmium(II) and nickel(II) ions.     

Congenital myotonic dystrophy: An often unsuspected cause of severe polyhydramnios

Two cases of severe polyhydramnios are presented in which the unsuspected diagnosis of myotonic dystrophy was made in the patient and the fetus.     

Turner syndrome-omphalocele association: Incidence,karyotype, phenotype and fetal outcome

Objective

Omphalocele is known to be associated with genetic anomalies like trisomy 13, 18 and Beckwith–Wiedemann syndrome, but not with Turner syndrome (TS). Our aim was to assess the incidence of omphalocele in fetuses with TS, the phenotype of this association with other anomalies, their karyotype, and the fetal outcomes.

Method

Retrospective multicenter study of fetuses with confirmed diagnosis of TS. Data were extracted from a detailed questionnaire sent to specialists in prenatal ultrasound.

Results

680 fetuses with TS were included in this analysis. Incidence of small omphalocele in fetuses diagnosed ≥12 weeks was 3.1%. Including fetuses diagnosed before 12 weeks, it was 5.1%. 97.1% (34/35) of the affected fetuses had one or more associated anomalies including increased nuchal translucency (≥3 mm) and/or cystic hygroma (94.3%), hydrops/skin edema (71.1%), and cardiac anomalies (40%). The karyotype was 45,X in all fetuses. Fetal outcomes were poor with only 1 fetus born alive.

Conclusion

TS with 45,X karyotype but not with X chromosome variants is associated with small omphalocele. Most of these fetuses have associated anomalies and a poor prognosis. Our data suggest an association of TS with omphalocele, which is evident from the first trimester.