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Two major ecological transitions marked the history of the Black Sea after the last Ice Age. The first was the postglacial transition from a brackish-water to a marine ecosystem dominated by porpoises and dolphins once this basin was reconnected back to the Mediterranean Sea (ca. 8,000 y B.P.). The second occurred during the past decades, when overfishing and hunting activities brought these predators close to extinction, having a deep impact on the structure and dynamics of the ecosystem. Estimating the extent of this decimation is essential for characterizing this ecosystem's dynamics and for formulating restoration plans. However, this extent is poorly documented in historical records. We addressed this issue for one of the main Black Sea predators, the harbor porpoise, using a population genetics approach. Analyzing its genetic diversity using an approximate Bayesian computation approach, we show that only a demographic expansion (at most 5,000 y ago) followed by a contemporaneous population collapse can explain the observed genetic data. We demonstrate that both the postglacial settlement of harbor porpoises in the Black Sea and the recent anthropogenic activities have left a clear footprint on their genetic diversity. Specifically, we infer a strong population reduction (~90%) that occurred within the past 5 decades, which can therefore clearly be related to the recent massive killing of small cetaceans and to the continuing incidental catches in commercial fisheries. Our study thus provides a quantitative assessment of these demographically catastrophic events, also showing that two separate historical events can be inferred from contemporary genetic data.

Recent climate change has triggered profound reorganization in northeast Atlantic ecosystems, with substantial impact on the distribution of marine assemblages from plankton to fishes. However, assessing the repercussions on apex marine predators remains a challenging issue, especially for pelagic species. In this study, we use Bayesian coalescent modelling of microsatellite variation to track the population demographic history of one of the smallest temperate cetaceans, the harbour porpoise (Phocoena phocoena) in European waters. Combining genetic inferences with palaeo-oceanographic and historical records provides strong evidence that populations of harbour porpoises have responded markedly to the recent climate-driven reorganization in the eastern North Atlantic food web. This response includes the isolation of porpoises in Iberian waters from those further north only approximately 300 years ago with a predominant northward migration, contemporaneous with the warming trend underway since the 'Little Ice Age' period and with the ongoing retreat of cold-water fishes from the Bay of Biscay. The extinction or exodus of harbour porpoises from the Mediterranean Sea (leaving an isolated relict population in the Black Sea) has lacked a coherent explanation. The present results suggest that the fragmentation of harbour distribution range in the Mediterranean Sea was triggered during the warm 'Mid-Holocene Optimum' period (approx. 5000 years ago), by the end of the post-glacial nutrient-rich 'Sapropel' conditions that prevailed before that time.

We report an association of proximal renal tubular dysfunction in a 50-day-old girl with glucose-galactose malabsorption who was found to have nephrocalcinosis, but no sign of nephrolithiasis. A novel homozygous nonsense mutation at 267Arg-->stop (CGA-->TGA) in the Na(+)-dependent glucose transporter (SGLT1) was found in loop 5 connecting transmembrane segments 6 and 7, indicating the complete loss of glucose transport activity. This case indicates that hypercalcaemia, nephrocalcinosis and proximal tubular dysfunction may be seen in association with glucose-galactose malabsorption and that most of these abnormalities improve with a glucose-galactose-free diet.