Malformation uropathies and multiple malformation syndromes

The authors, from their experience emphasize the associated malformations' frequency in major congenital urinary tract malformations (26,9%). It is essential to recognize in these multiple defects some certified syndromes - inherited or not. The most associations are still unknown, nevertheless the genetic counselling require an accurate diagnosis.     

Selective Coronary Angiography Using a Percutaneous Femoral Technique

Successful use, in 650 patients over a period of two years, of a percutaneous femoral technique of selective coronary angiography is described. This technique is carried out with the use of mouldable, manually preshaped polyethylene catheters. Preparation of the material and the different steps of the technique are discussed. Excellent flexibility and plastic memory of this catheter material allow easy, rapid and consistent percutaneous insertion and removal of catheters and intubation of the coronary arteries.     

Instability of long inverted repeats within mouse transgenes.

Various sequences in the mammalian genomes are unstable. One class of sequence arrangement is long inverted repeats, which are known to be unstable in bacteria and yeast. While in mammals some evidence suggests that short inverted repeats (<10 bp long) may show instability, nothing is known about the stability of long inverted repeats. Here we describe two unrelated multicopy transgenes in the mouse (loci 109 and OX1-5), each of which contains a long inverted repeat that shows substantial mitotic instability. This instability also occurs in the germline so that mutant transgenes appear within pedigrees at a high frequency. The mutation processes acting at these two inverted repeats are complex and can involve insertion or deletion, and can result in stabilization of the transgene. At transgene 109 mutational events range from very small rearrangements at the centre of the inverted repeat to complete transgene deletion. In addition we show that the rates of mutation at the inverted repeat of transgene OX1-5 can vary between the male and female germlines and between inbred strains of mice, suggesting the possibility of a genetic analysis to identify loci that modulate inverted repeat instability.     

Non-linear loss of suitable wine regions over Europe in response to increasing global warming

Evaluating the potential climatic suitability for premium wine production is crucial for adaptation planning in Europe. While new wine regions may emerge out of the traditional boundaries, most of the present-day renowned winemaking regions may be threatened by climate change. Here, we analyse the future evolution of the geography of wine production over Europe, through the definition of a novel climatic suitability indicator, which is calculated over the projected grapevine phenological phases to account for their possible contractions under global warming. Our approach consists in coupling six different de-biased downscaled climate projections under two different scenarios of global warming with four phenological models for different grapevine varieties. The resulting suitability indicator is based on fuzzy logic and is calculated over three main components measuring (i) the timing of the fruit physiological maturity, (ii) the risk of water stress and (iii) the risk of pests and diseases. The results demonstrate that the level of global warming largely determines the distribution of future wine regions. For a global temperature increase limited to 2°C above the pre-industrial level, the suitable areas over the traditional regions are reduced by about 4%/°C rise, while for higher levels of global warming, the rate of this loss increases up to 17%/°C. This is compensated by a gradual emergence of new wine regions out of the traditional boundaries. Moreover, we show that reallocating better-suited grapevine varieties to warmer conditions may be a viable adaptation measure to cope with the projected suitability loss over the traditional regions. However, the effectiveness of this strategy appears to decrease as the level of global warming increases. Overall, these findings suggest the existence of a safe limit below 2°C of global warming for the European winemaking sector, while adaptation might become far more challenging beyond this threshold.     

L'intoxication alloxanique chez la femelle gravide de cobaye

Sommaire Chez la femelle de cobaye gravide, une injection intracardiaque de 200 mg/kg d'alloxane provoque en 6–8 hs, une pycnose généralisée des cellules B des îlots endocriniens du pancréas; 18–20 hs après l'injection, les acini exocrines en bordure des îlots devenus nécrotiques se différencient et prolifèrent des cordons de cellules endocriniennes. Cette régénération intense et rapide est pratiquement achevée 42 hs après l'injection.L'effet, sur le pancréas foetal, de l'alloxane injectée à la femelle gravide, varie suivant le stade de développement atteint par le tissu endocrine au moment de l'injection. Pendant la phase de différenciation, aux dépens de l'épithélium des canaux, des premières cellules A (emb. de 13 mm, 25e jour) et B (emb. de 27 mm, 34e jour), puis de prolifération de cordons aboutissant à la formation des îlots primitifs dits îlots à manteau (foetus de 58 mm, 43e jour), les cellules B sont totalement réfractaires à l'action de l'alloxane. Chez les foetus ayant atteint 75 mm (50–51e jour), les premiers îlots à architecture définitive ont fait leur apparition par remaniement secondaire des îlots à manteau, processus qui continuera jusqu'à la naissance. Dès que ce stade est atteint, l'alloxane injectée à la mère provoque la pycnose généralisée des cellules B dans les îlots définitifs alors que les îlots à manteau voisins restent intacts. Il semble donc que les cellules B doivent atteindre un certain degré de maturité pour être sensibles à l'alloxane.     

Cystic fibrosis in the population of Reunion Island

The frequencies of the delta F 508 mutation and haplotypes linked to the cystic fibrosis (CF) gene and detected with DNA probes XV-2C and KM-19 have been studied in the population of Reunion Island, a French province located in the Indian Ocean. The deletion was present in 41.3% of CF chromosomes, whereas this proportion is about 70% in the French population. The delta F 508 mutation was associated with the haplotype B defined by the DNA markers XV-2C (allele 1) and KM-19 (allele 2) in 76.4% of CF chromosomes, while this proportion is over 90% in the French population. Founder effect, genetic drift and admixture can explain these differences.