Prenatal diagnosis of partial tetrasomy 14: a case study

Prenatal specimens were received from a fetus with abnormalities noted on ultrasound. A supernumerary marker chromosome (SMC) was detected: 47,XY,+mar. Fluorescence in situ hybridisation (FISH) further classified this to be partial tetrasomy for chromosome 14. We compare this finding with other cases of SMC (14) and further classify phenotype with karyotype. Copyright © 2002 John Wiley & Sons, Ltd.     

Balkan endemic nephropathy and aristolochic acid I: an investigation into the role of soil and soil organic matter contamination,as a potential natural exposure pathway

Aristolochic acids (AAs) are carcinogenic and nephrotoxic plant alkaloids present in Aristolochia species, used in traditional medicine. Recent biomolecular and environmental studies have incriminated these toxins as an etiological agent in Balkan endemic nephropathy (BEN), a severe kidney disease occurring in the Balkan Peninsula. The questions on how the susceptible populations are exposed to these toxins have not yet been clearly answered. Exposure to AAs through the food chain, and environmental pollution (soil/dust), could provide an explanation for the presence of BEN in the countries where no folkloric use of the plant has been documented (Bulgaria, Croatia). Additional exposure pathways are likely to occur, and we have shown previously that AAs can contaminate crop plants through absorption from soil, under controlled laboratory environment. Here, we attempt to provide additional support to this potential exposure pathway, by revealing the presence of AAI in soil and soil organic matter samples collected from BEN and non-BEN areas. The samples were processed in order to be analyzed by high-pressure liquid chromatography, and ion trap mass spectrometry. Our results showed the presence of AAI in small concentrations, both in BEN and non-BEN soils, especially where Aristolochia plants and seeds were present.     

Calcium signaling and copper toxicity in <Emphasis Type="Italic">Saccharomyces cerevisiae</Emphasis> cells

To respond to metal surpluses, cells have developed intricate ways of defense against the excessive metallic ions. To understand the ways in which cells sense the presence of toxic concentration in the environment, the role of Ca²⁺ in mediating the cell response to high Cu²⁺ was investigated in Saccharomyces cerevisiae cells. It was found that the cell exposure to high Cu²⁺ was accompanied by elevations in cytosolic Ca²⁺ with patterns that were influenced not only by Cu²⁺ concentration but also by the oxidative state of the cell. When Ca²⁺ channel deletion mutants were used, it was revealed that the main contributor to the cytosolic Ca²⁺ pool under Cu²⁺ stress was the vacuolar Ca²⁺ channel, Yvc1, also activated by the Cch1-mediated Ca²⁺ influx. Using yeast mutants defective in the Cu²⁺ transport across the plasma membrane, it was found that the Cu²⁺-dependent Ca²⁺ elevation could correlate not only with the accumulated metal, but also with the overall oxidative status. Moreover, it was revealed that Cu²⁺ and H₂O₂ acted in synergy to induce Ca²⁺-mediated responses to external stress.