Bioindication of volatile elements emission by the Puyehue-Cordón Caulle (North Patagonia) volcanic event in 2011

The emission of volatile pollutants from the volcanic eruption of the Puyehue-Cordón Caulle complex (North Patagonia Andean Range) that started in June 4th, 2011, was investigated by bioindication means with the epyphytic fruticose lichen Usnea sp. The elemental composition of pooled samples made up with 10 lichen thalli were analysed by Instrumental Neutron Activation Analysis. Eleven sampling sites were selected within the impacted region at different distance from the volcanic source. Five sites were selected as they were already sampled in a previous study prior to the eruption. Two other new sampling sites were selected from outside the impacted zone to provide non-impacted baseline sites.The elements associated with the lichen incorporation of particulate matter (PM) of geological origin were identified by linear correlation with a geochemical tracer (Sm concentrations). The elements associated with PM uptake were Ce, Eu, Fe, Hf, La, Lu, Na, Nd, Sb, Sc, Se, Ta, Tb, Th, U, and Yb. Arsenic and Cs concentrations showed contributions exceeding the PM fraction in sites near the volcanic centre, also higher than the baseline concentrations, which could be associated with permanent emissions from the geothermal system of the Puyehue-Cordón Caulle complex. The lichen concentrations of Ba, Ca, Co, Hg, K, Rb, Sr, and Zn were not associated with the PM, not showing higher concentrations in the sites nearby the volcanic source or respect to the baseline values either. Therefore, there is no indication of the emission of volatile forms of these elements in the lichen records. The lichen records only identified Br volatile emissions associated with the Puyehue-Cordón Caulle complex eruption in 2011.     

Der Strahlungshaushalt der terrestrischen Planeten Venus,Erde und Mars

The radiation budget of planets substantially determines their climates. For the terrestrial planets having their own imperceptible heat source compared to the solar radiation, the radiation budget supplies energy that can be transformed and used in their atmospheres and at their surfaces. The crucial role of the radiation budget for the Earth's climate is manifested in current international programs like the World Climate and Global Change Programs. The intercomparison and analysis of the radiation budget of the terrestrial planets, due to quite different atmospheric compositions and external conditions, provide a deeper insight into the relations of the different components of the radiation budget.     

Extraction of DNA from amniotic fluid cells for the early prenatal diagnosis of genetic disease

Ten-ml samples of amniotic fluid were taken from pregnancies being terminated at 8–14 weeks' gestation. DNA was extracted from the amniotic cells by sequential centrifugation and analysed using the polymerase chain reaction (PCR). Fifteen samples were analysed for evidence of maternal contamination using Mfd5 oligo-nucleotide primers for repeat polymorphisms. Ten amniotic fluid samples were tested for the Delta-F₅₀₈ deletion characteristic of cystic fibrosis to demonstrate a diagnostic application for the technique. In each case, DNA extracted from fetal tissue from the same pregnancy was included in the controls. In 14 of the 15 cases tested with the Mfd5 primers, both the amniotic fluid DNA and the fetal DNA showed no evidence of contaminating DNA. In one case, neither the amniotic fluid cells nor the fetal cells yielded results. In nine of the ten cases tested with the Delta-F₅₀₈ primers, the amniotic fluid cell DNA provided accurate information about the genetic status of the fetus; in the tenth, the fetal DNA failed to amplify. The results indicate that adequate DNA can be extracted from amniotic fluid from 8 weeks' gestation onward and these samples are suitable for prenatal diagnosis using PCR.     

Early amniocentesis at 11–14 weeks' gestation for the diagnosis of fetal chromosomal abnormality—a clinical evaluation

Early arnniocentesis between 11 and 14 weeks' gestation was offered to 110 women at risk of a chromosomally abnormal fetus due to maternal age. Four were found to be unsuitable for the procedure, and 106 early amniocenteses were performed. In 102 cases, clear amniotic fluid was obtained with a single tap. There were two dry taps and two bloodstained tapis; sampling was repeated in three of these cases before 15 weeks. In the fourth case, placental biopsy was performed at 16 weeks. Thus, we were able to obtain a satisfactory sample in all but three cases(2.8 percent). Karyotyping of cells harvested from the early amniotic fluid samples was successful in all the 105 cases. Cell culture from the initial samples revealed a normal karyotype in 99 cases, two balanced translocations, two tetraploid karyotypes, and two cases of pseudomosaicism. Of the 105 pregnancies successfully sampled, there have been two losses to date (1–8 per cent). Two further patients presented with premature rupture of membranes, both pregnancies having successful outcomes. Sixty-two babies have delivered to date, with four congenital anomalies. There were no respiratory problems. Twenty-nine pregnancies are continuing without known complications, and details are not yet available on the remaining 12. The results indicate that early arnniocentesis may replace the traditional test at 15–17 weeks.     

Preimplantation diagnosis: A patient perspective

A new dimension in the prevention of birth defects will be achieved when genetic diseases can be routinely diagnosed in embryos prior to implantation. The impressions and attitudes towards preimplantation diagnosis were studied in prospective patients, women at high reproductive risk for a genetic disease. Their perspective highlighted not only the advantages and disadvantages of this new approach, but also those changes necessary in order for preimplantation diagnosis to become a useful and practical technique. The data presented are based on information obtained by a mailed questionnaire answered by 58 women. The main benefit of preimplantation diagnosis for these high-risk women would be the ability to undertake a pregnancy without having to be subjected to the physical and/or emotional trauma of elective termination. Their major concerns related to possible damage to the embryo following biopsy, the cost of the procedure, and the low success rate of completed pregnancies. Other issues to be addressed before preimplantation diagnosis could begin to compare favourably with existing forms of prenatal testing were that the methods of obtaining oocytes or embryos should be simple, well tolerated, highly efficient, and low in maternal risk, and that the genetic analysis of embryonic or extraembryonic cells should be unequivocally accurate.     

Chorionic villus sampling: Analysis of fetal losses to delivery,placental pathology,and cervical microbiology

A population of 1639 patients were seen for chorionic villus sampling (CVS). Embryonic death was identified at ultrasound in 5.3 per cent of patients. The number of patients undergoing CVS was 1551, with 1416 transcervical procedures and 135 transabdominal procedures. The most common indication for CVS was advanced maternal age. Spontaneous pregnancy losses identified by increased risk of pregnancy loss with increasing aspiration attempts. The total fetal loss for this population was 5.4 per cent with the pregnancy loss estimated due to procedure being 1.2 per cent. Analysis of placentae from patients having CVS and amniocen-tesis showed no differences. Microbiological assessment prior to CVS was similar to previous publications.     

An approach to preimplantation diagnosis of β-thalassaemia

Using the polymerase chain reaction (PCR), it was possible to amplify a single copy fragment of the β-globin gene from 2–32 human embryonic cells obtained from arrested preimplantation embryos. For the detection of β-thalassaemia mutations, allele specific priming of the PCR using nested primers was employed using approximately 10 pg of DN A from individuals known to carry these mutations. This approach was successful in detecting the presence or absence of five Asian Indian β-thalassaemia mutations that were selected for this study. In spite of meticulous precautions against contamination, false-positive amplification was observed, a problem that will have to be overcome before this approach can be used in clinical practice.