Chromosomal in situ suppression hybridization of human gonosomes and autosomes and its use in clinical cytogenetics

DNA libraries from sorted human gonosomes were used selectively to stain the X and Y chromosomes in normal and aberrant cultured human cells by chromosomal in situ suppression (CISS-) hybridization. The entire X chromosome was stained in metaphase spreads. Interphase chromosome domains of both the active and inactive X were clearly delineated. CISS-hybridization of the Y chromosome resulted in the specific decoration of the euchromatic part (Ypter-q11), whereas the heterochromatic part (Yq12) remained unlabeled. The stained part of the Y chromosome formed a compact domain in interphase nuclei. This approach was applied to amniotic fluid cells containing a ring chromosome of unknown origin (47,XY; +r). The ring chromosome was not stained by library probes from the gonosomes, thereby suggesting its autosomal origin. The sensitivity of CISS-hybridization was demonstrated by the detection of small translocations and fragments in human lymphocyte metaphase spreads after irradiation with 60Co-gamma-rays. Lymphocyte cultures from two XX-males were investigated by CISS-hybridization with Y-library probes. In both cases, metaphase spreads demonstrated a translocation of Yp-material to the short arm of an X chromosome. The translocated Y-material could also be demonstrated directly in interphase nuclei. CISS-hybridization of autosomes 7 and 13 was used for prenatal diagnosis in a case with a known balanced translocation t(7;13) in the father. The same translocation was observed in amniotic fluid cells from the fetus. Specific staining of the chromosomes involved in such translocations will be particularly important, in the future, in cases that cannot be solved reliably by conventional chromosome banding alone

Multi-scale analysis of the water-energy-food nexus in the Gulf region

We quantify the heavily oil-dominated WEF nexus in three Gulf Cooperation Council (GCC) countries (Kuwait, Qatar and Saudi Arabia) across spatial scales and over time, using available empirical data at the national level, and explore the exposure to nexus stresses (groundwater depletion) in other countries through virtual water trade. At the domestic scale, WEF trade-offs are fairly limited; while all sectors require considerable amounts of energy, the requirements for water and food production are modest compared to other uses. At the international scale, revenues from oil exports in the GCC allow the region to compensate for low food production and scarce water availability. This dependency is dynamic over time, increasing when oil prices are low and food prices are high. We show how reducing domestic trade-offs can lead to higher exposure internationally, with rice imports originating in regions where groundwater is being depleted. However, Saudi Arabia's increased wheat imports, after reversing its food self-sufficiency policy, have had limited effects on groundwater depletion elsewhere. Climate change mitigation links the WEF nexus to the global scale. While there is great uncertainty about future international climate policy, our analysis illustrates how implementation of measures to account for the social costs of carbon would reduce the oil and gas revenues available to import food and desalinate water in the GCC

Multi-scale analysis of the water-energy-food nexus in the Gulf region

We quantify the heavily oil-dominated WEF nexus in three Gulf Cooperation Council (GCC) countries (Kuwait, Qatar and Saudi Arabia) across spatial scales and over time, using available empirical data at the national level, and explore the exposure to nexus stresses (groundwater depletion) in other countries through virtual water trade. At the domestic scale, WEF trade-offs are fairly limited; while all sectors require considerable amounts of energy, the requirements for water and food production are modest compared to other uses. At the international scale, revenues from oil exports in the GCC allow the region to compensate for low food production and scarce water availability. This dependency is dynamic over time, increasing when oil prices are low and food prices are high. We show how reducing domestic trade-offs can lead to higher exposure internationally, with rice imports originating in regions where groundwater is being depleted. However, Saudi Arabia’s increased wheat imports, after reversing its food self-sufficiency policy, have had limited effects on groundwater depletion elsewhere. Climate change mitigation links the WEF nexus to the global scale. While there is great uncertainty about future international climate policy, our analysis illustrates how implementation of measures to account for the social costs of carbon would reduce the oil and gas revenues available to import food and desalinate water in the GCC

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Non-invasive or minimally invasive autopsy compared to conventional autopsy of suspected natural deaths in adults: a systematic review

Objectives: Autopsies are used for healthcare quality control and improving medical knowledge. Because autopsy rates are declining worldwide, various non-invasive or minimally invasive autopsy methods are now being developed. To investigate whether these might replace the invasive autopsies conventionally performed in naturally deceased adults, we systematically reviewed original prospective validation studies. Materials and methods: We searched six databases. Two reviewers independently selected articles and extracted data. Methods and patient groups were too heterogeneous for meaningful meta-analysis of outcomes. Results: Sixteen of 1538 articles met our inclusion criteria. Eight studies used a blinded comparison; ten included less than 30 appropriate cases. Thirteen studies used radiological imaging (seven dealt solely with non-invasive procedures), two thoracoscopy and laparoscopy, and one sampling without imaging. Combining CT and MR was the best non-invasive method (agreement for cause of death: 70 %, 95%CI: 62.6; 76.4), but minimally invasive methods surpassed non-invasive methods. The highest sensitivity for cause of death (90.9 %, 95%CI: 74.5; 97.6, suspected duplicates excluded) was achieved in recent studies combining CT, CT-angiography and biopsies. Conclusion: Minimally invasive autopsies including biopsies performed best. To establish a feasible alternative to conventional autopsy and to increase consent to post-mortem investigations, further research in larger study groups is needed. Key points: • Health care quality control benefits from clinical feedback provided by (alternative) autopsies. • So far, sixteen studies investigated alternative autopsy methods for naturally deceased adults. • Thirteen studies used radiological imaging modalities, eight tissue biopsies, and three CT-angiography. • Combined CT, CT-angiography and biopsies were most sensitive diagnosing cause of death