Prenatal diagnosis of haemoglobin disorders by cordocentesis at 12 weeks' gestation

Prenatal diagnosis of haemoglobin disorders is accepted to be a useful procedure to avoid births of infants with homozygous diseases. Advances in sampling and molecular techniques, such as polymerase chain reaction (PCR) and chorionic villus sampling (CVS), have made earlier and safer first-trimester prenatal diagnosis possible. However, these procedures need previous studies of at-risk couples, which can be very time-consuming when a number of different β-thalassaemia mutations occur in the region. We describe the possibility of making a first-trimester prenatal diagnosis by cordocentesis and fetal blood analysis at the 12th week of gestation. We found no statistically significant difference (p>0.05) between β/γ values in fetuses at the 12th and 18th weeks of gestation. In seven affected fetuses aborted at the 12th week of gestation, the diagnosis was confirmed in all cases by PCR analysis. These findings suggest that early cordocentesis could be an alternative procedure to CVS and PCR analysis.     

Macrobenthic invertebrates as bioindicators of trace elements in high-mountain lakes

Environmental Science and Pollution Research - Alpine lakes are extreme ecosystems located in remote areas and populated by few but well-adapted species. Because of their remote location, they are...     

Effect of bisphenol A with or without enzyme treatment on the proliferation and viability of MCF-7 cells

Recently, aqueous solutions polluted by BPA have been bioremediated by us using laccase immobilized on hydrophobic membranes in non-isothermal bioreactors. BPA degradation was checked using analytical methods. To assess in vitro the occurred bioremediation, the proliferation and viability indexes of MCF-7 cells incubated in the presence of aqueous solutions of BPA, or of enzyme-treated BPA solutions, have been measured as a function of the initial BPA concentration. The results demonstrated that: i) at each initial BPA concentration used, both the proliferation and viability indexes are a function of the duration of enzyme treatment; ii) proliferation and viability are uncoupled biological processes with respect to BPA enzyme treatment. Non-isothermal bioreactors are a useful tool for the bioremediation of aqueous solutions polluted by BPA, which is an example of an endocrine disruptor that belongs to the alkyl phenol family.     

Cytogenetic analysis of Epinephelus marginatus (Pisces: Serranidae), with the chromosome localization of the 18S and 5S rRNA genes and of the (TTAGGG)n telomeric sequence

 A cytogenetic analysis was carried out on specimens of Epinephelus marginatus (Lowe, 1834) from three localities in the Mediterranean Sea, to deepen knowledge of the chromosome complement of the species and identify any possible population-specific cytogenetic markers. All specimens had a 2n = 48 acrocentric karyotype with two Ag-, chromomycin A₃- and C-positive NORs (nucleolar organizer regions) in the subcentromeric region of the smallest chromosome pair. The constitutive heterochromatin was distributed centromerically. Except for NORs, neither eu- nor heterochromatin show fluorescence after fluorochrome staining, i.e. there is no localized increase of AT- or GC-rich DNA. In all populations, the (TTAGGG) _n telomeric sequences are restricted to the telomeres, and the 18S and the 5S rDNA clusters are located on different chromosome pairs. In specimens from Sardinia, additional signals after C-banding, Ag-staining and FISH (fluorescence in situ hybridization) with 18S rDNA can be observed in the telomeric region of one or two large-sized chromosomes, classified as No. 2. This suggests that additional and variable NORs could be detected in the species in addition to those on the genus-specific, NOR-bearing Chromosome Pair 24. Received: 20 October 1999 / Accepted: 14 April 2000     

Antioxidant response versus selenium accumulation in the liver and kidney of the Siberian sturgeon (Acipenser baeri)

The aim of this study was to examine the effects of selenium on concentrations of metabolites and enzyme activities acting as antioxidant markers in liver and kidney of Siberian sturgeon Acipenser baeri. Sturgeons were fed selenium cysteine for 30 and 60 d at 1.25, 5, 20 mg Se kg⁻¹. Selenium level in the control feed was 0.32 mg kg⁻¹. Se concentration was measured in liver, kidney and muscle of every specimen. Sturgeon accumulated Se in tissues with a clear dose-response relationship and the highest Se concentration was recorded in liver. This outcome is lined up with the findings obtained on the antioxidant markers evaluated in both tissues, and in which a dose-response for several biomarkers was recorded in liver. The superoxide dismutase activity in Se-treated fish was generally induced, while catalase activity was lower in liver or unaltered in kidney. The concentrations of glutathione S-transferase, glutathione reductase and total glutathione responded differently for both tissues and were induced in a different way at both endpoints. No changes of glyoxalase I activity were noted for both Se-treated tissues, while for glyoxalase II enzyme in liver a dose-related pattern was found showing a reversible effect (decreased and increased counteractive response) only in the 5 mg kg⁻¹ group. Moreover, the highest Se concentrations did not cause marked changes in malondialdehyde levels of liver and kidney. The enhancement of glutathione peroxidase activity in Se-treated sturgeon might have prevented the lipid peroxidation in both tissues, providing to the Siberian sturgeon a great defense ability versus the prooxidant effect of selenium.     

Perceived hospital environment quality indicators: A study of orthopaedic units

The purposes of this study are to develop perceived hospital environment quality indicators for rating hospital settings, and to use those scales to compare hospitals selected to differ in their spatial–physical humanization (design features that support users’ needs and well-being). Orthopaedic units in three different hospitals in a major Italian city were selected to represent low, moderate and high levels of environmental humanization. Two architects rated the settings on 120 qualities and provided modest corroboration for the three levels. In each orthopaedic unit, patients, visitors and staff completed questionnaires including four scales about the physical and social environments (N=202). A total of 12 Perceived Hospital Environment Quality Indicators (PHEQIs) scales emerged from factor and reliability analyses of these responses. The PHEQIs had face validity, reflecting the main features articulated by the scientific literature on humanization, and overall had good inter-item reliability. ANOVAs supported hypotheses that patients and visitors would rate humanized environments more positively, although staff members seemed to be less sensitive than service users to differences in design quality.     

Physical and chemical characteristics of water from the hydrographic basin of the Poxim River, Sergipe State, Brazil

The Poxim River is one of Sergipe State’s major waterways. It supplies water to the State capital, Aracaju, but is threatened by urban and agricultural developments that compromise both the quantity and the quality of the water. This has direct impacts on the daily lives of the region’s population. In this work, a multivariate analytical approach was used to investigate the physical and chemical characteristics of the water in the river basin. Four sampling campaigns were undertaken, in November 2005, and in February, May, and September 2006, at 15 sites distributed along the Poxim. The parameters analyzed were conductivity, turbidity, color, total dissolved solids, dissolved oxygen, alkalinity, hardness, chlorophyll-a, and nutrients (total phosphorus, dissolved orthophosphate, nitrite, nitrate, ammoniacal nitrogen, and total nitrogen). Dissolved oxygen contents were very low in the Poxim-Açu River (1.0–2.8), the Poxim River (1.6–4.6), and the estuarine region (1.7–5.1), due to the dumping of wastes and discharges of domestic and industrial effluents containing organic matter into fluvial and estuarine regions of the Poxim. Factor analysis identified five components that were indicative of the quality of the water, and that explained 81.73 % of the total variance.     

Ecological bases of philopatry and cooperation in Ethiopian wolves

Ecological reasons for philopatry and cooperation are frequently invoked when kin selection is an insufficient explanation. The Ethiopian wolf (Canis simensis) is a specialised rodent hunter that forms family groups with cooperative breeding but also lives as monogamous pairs in suboptimal areas. Given the apparent absence of fitness gains to helpers from cooperative breeding, we set out to explore the benefits accrued by communal territorial defence measured as the acquisition and retention of habitats with more and most preferred rodent prey. Pairs defended relatively large territories to encompass critical amounts of key habitats within a matrix poor in rodents. Groups in optimal areas had relatively small territories and were expansionist, such that wolves in larger packs benefited per capita from increased good-quality foraging habitat. The fitness benefits of philopatry became evident after a rabies epizootic, when philopatry and expansionism prevailed in under-saturated conditions, until large groups split or provided dispersers that established locally. This study shows that high concentrations of prey can shift the balance of costs and benefits towards group living and cooperation in long-lived territorial carnivores, in so far as this dictates immediate rewards accrued from a given increment in territory size, namely greater foraging area per animal, leading to group enlargement and eventual inheritance of breeding space.