The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.

PURPOSE: To characterize in detail the phenotype of five unrelated families with autosomal dominant bull's eye maculopathy (BEM) due to the R373C mutation in the PROM1 gene. METHODS: Forty-one individuals of five families of Caribbean (family A), British (families B, D, E), and Italian (family C) origin, segregating the R373C mutation in PROM1, were ascertained. Electrophysiological assessment, fundus autofluorescence (FAF) imaging, fundus fluorescein angiography (FFA), and optical coherence tomography (OCT) were performed in available subjects. Mutation screening of PROM1 was performed. RESULTS: The R373C mutant was present heterozygously in all affected patients. The age at onset was variable and ranged between 9 and 58 years, with most of the individuals presenting with reading difficulties. Subjects commonly had a mild to moderate reduction in visual acuity except for members of family C who experienced markedly reduced central vision. The retinal phenotype was characterized by macular dystrophy, with retinal pigment epithelial mottling in younger subjects, progressing to typical BEM over time, with the development of macular atrophy in older patients. In addition, all members of family C had typical features of RP. The electrophysiological findings were variable both within and between families. CONCLUSIONS: Mutations in PROM1 have been described to cause a severe form of autosomal recessive RP in two families of Indian and Pakistani descent. The results of this study have demonstrated that a distinct redundant PROM1 mutation (R373C) can also produce an autosomal dominant, fully penetrant retinopathy, characterized by BEM with little inter- and intrafamilial variability, and retinal dystrophy with variable rod or rod-cone dysfunction and marked intra- and interfamilial variability, ranging from isolated maculopathy without generalized photoreceptor dysfunction to maculopathy associated with very severe rod-cone dysfunction.

Statistical analysis and modelling of weather radar beam propagation conditions in the Po Valley (Italy)

Ground clutter caused by anomalous propagation (anaprop) can affect seriously radar rain rate estimates, particularly in fully automatic radar processing systems, and, if not filtered, can produce frequent false alarms. A statistical study of anomalous propagation detected from two operational C-band radars in the northern Italian region of Emilia Romagna is discussed, paying particular attention to its diurnal and seasonal variability. The analysis shows a high incidence of anaprop in summer, mainly in the morning and evening, due to the humid and hot summer climate of the Po Valley, particularly in the coastal zone. Thereafter, a comparison between different techniques and datasets to retrieve the vertical profile of the refractive index gradient in the boundary layer is also presented. In particular, their capability to detect anomalous propagation conditions is compared. Furthermore, beam path trajectories are simulated using a multilayer ray-tracing model and the influence of the propagation conditions on the beam trajectory and shape is examined. High resolution radiosounding data are identified as the best available dataset to reproduce accurately the local propagation conditions, while lower resolution standard TEMP data suffers from interpolation degradation and Numerical Weather Prediction model data (Lokal Model) are able to retrieve a tendency to superrefraction but not to detect ducting conditions. Observing the ray tracing of the centre, lower and upper limits of the radar antenna 3-dB half-power main beam lobe it is concluded that ducting layers produce a change in the measured volume and in the power distribution that can lead to an additional error in the reflectivity estimate and, subsequently, in the estimated rainfall rate.

Determination of testosterone misuse in sport, an international comparative study

Introduction: Urinary steroid profiling is used in doping controls to detect testosterone abuse. A testosterone over epitestosterone (T/E) ratio exceeding 4.0 is considered as suspicious of testosterone administration, irrespectively of individual heterogeneous factors such as the athlete's ethnicity. A deletion polymorphism in the UGT2B17 gene was demonstrated to account for a significant part of the inter-individual variability in the T/E between Caucasians and Asians. However, the anti-doping strategy includes the determination of carbon isotope ratio on androgen metabolites which has been demonstrated to be reliable for the direct detection of testosterone misuse. Herein, we examined the profiles and the variability in the 13C/12Cratios of urinary steroids in a widely heterogeneous cohort of professional soccer players residing in different world countries (Argentina, Italy, Japan, South-Africa, Switzerland and Uganda). Aim: The determination of threshold values based on genotype information and diet specific of the ethnicity is expected to enhance significantly the detection of testosterone misuse. Methods: The steroid profile of 57 Africans, 32 Asians, 50 Caucasians and 32 Hispanics was determined by gas chromatography-mass spectrometry. The carbon isotope ratio of selected androgens in urine specimens were determined by means of gas chromatography/combustion/isotope ratio mass spectrometry (GC-C-IRMS). Results: Significant differences have been observed between all ethnic groups. After estimation of the prevalence of the UGT2B17 deletion/deletion genotype (African:22%; Asian:81%; Caucasian:10%; Hispanic:7%), ethnicspecific thresholds were developed for a specificity of 99% for the T/E (African:5.6; Asian:3.8; Caucasian:5.7; Hispanic:5.8). Italian and Swiss populations recorded an enrichment in 13C of the urinary steroids with respect to the other groups, thereby supporting consumption of a relatively larger proportion of C3 plants in their diet. Noteworthy, detection criteria based on the difference in the carbon isotope ratio of androsterone and pregnanediol for each population were well below the established threshold value for positive cases. Conclusion: These profiling results demonstrate that a unique and nonspecific threshold to evidence testosterone misuse is not fit for purpose. In addition, the carbon isotopic ratio from these different diet groups highlight the importance to adapt the criteria for increasing the sensitivity in the detection of exogenous testosterone. In conclusion, it may be emphasized that combining the use of isotope ratio mass spectrometry including refined interpretation criteria for positivity and the subject-based profiling of steroids will most probably improve the efficiency of the confirmatory test.

Traité de « ce qui concerne les honneurs et rengz des princes, pairs, prelatz, grandz vassaulx et officiers » du royaume, dédié par l'auteur, JEAN DU TILLET, Sr de La Bussière, greffier civil au parlement de Paris, au roi Charles IX. Exemplaire original.

Contient : Préface ; Traité

Programme latin de don d'organes: les intensivistes se mettent en réseau [Latin program for organ donation: the intensivists are networking]

The new Swiss federal law on organ and transplantation strengthens the responsibilities of the intensive care units. In Italian and French speaking parts of Switzerland, the Programme Latin pour le Don d'Organe (PLDO) has been launched to foster a wider collaboration between intensivists and donation coordinators. The PLDO aims at optimising knowledge and expertise in organ donation through improvements in identification, notification and management of organ donors and their next of kin. The PLDO dispenses education to all professionals involved. Such organisation should allow increasing the number of organs available, while improving healthcare professionals experience and next of kin emotion throughout the donation process.

Prevalence of obesity in children in north-east Italy.

This study was performed to analyse the prevalence of obesity in children living in six different areas of the north-east of Italy. The study included 1523 children (749 male, 774 female), divided into four age categories (4, 8, 10, 12 +/- 0.5 years of age, respectively). The physical characteristics of the children were measured by trained and standardized examiners. In accordance with the guidelines on the Italian Consensus Conference on Obesity (Rome, 4-6 June 1991), a child was defined as obese when his weight was higher than 120% of the weight predicted for height, as calculated from the Tanner's tables. On average, the prevalence of obesity was higher in males than in females (15.7% vs. 11%). The highest prevalence was seen in 10-year-old males (23.4%). The prevalence increased with age both in males (4 years = 3.6%, 8 years = 11.2%, 10 years = 23.4%, 12 years = 17.3%) and in females (4 years = 2%, 8 years = 13.3%, 10 years = 12.7%, 12 years = 11.9%). This tendency was maintained when calculating the obesity prevalence by other methods, such as BMI, triceps skinfold and fat mass, although the magnitude of the prevalence was different depending on the criteria used to define it. A consensus on more precise criteria to define obesity is needed for a better diagnosis of obesity in childhood and to allow a more reliable measurement and comparison of the prevalence of obesity among populations.

Politique et réseaux. Logiques de la mobilisation politique populaire dans une vallée alpine 1839-1900

Résumé: Depuis plusieurs années, le thème des réseaux sociaux est au centre de l'intérêt des études historiques. Est-il possible de formaliser l'analyse de réseaux sociaux spécifiques - parenté, clientèle, solidarités locales, etc. - afin d'en analyser l'influence sur des événements historiques et des individus précis ? L'étude présentée prend en considération les luttes souvent violentes entre radicaux et conservateurs dans le Val de Bagnes, en Valais (Suisse), entre 1839 et 1900. La comparaison entre les généalogies des familles de la vallée et les informations sur la vie politique et sociale nous permet de relever l'influence de la parenté dans l'organisation des factions politiques. Les réseaux de parenté sont toutefois ouverts et souples, permettant des adaptations aux évolutions de la situation politique, économique et sociale. L'affaire autour du faux-monnayeur italien Joseph S. Farinet, dans les années 1870, nous permet par exemple de suivre l'évolution des réseaux de solidarité, à la suite d'une crise politique, ainsi que l'émergence de nouvelles activités économiques, notamment le tourisme, avec les hôteliers, les aubergistes et les guides de montagne souvent liés au milieu radical. L'analyse permet également de nuancer l'influence des réseaux de patronage : les collaborations horizontales, à l'intérieur des classes populaires, semblent mieux expliquer les solidarités politiques. Abstract: For several years, historians have been closely concerned with the question of social networks. Is it possible to conceptualize specific networks - like kinship, patronage or local solidarities - and to analyze their influence on concrete individuals or historical events? This paper considers the violent struggles between a radical political faction and a conservative one in a Swiss alpine valley, the Val de Bagnes (Valais) between 1839 and 1900. It compares information about political and social conflicts in the valley with genealogies of local families. By this way the eminent influence of kinship ties on political organizations becomes visible. But kinship networks are open and very supple, allowing adaptations to new political and social configurations. The trials against the Italian smuggler and counterfeiter Joseph S. Farinet in the Seventies allow to describe the evolution of local cooperation networks as a consequence of a political crisis in the canton of Valais and of new economic activities. The paper stresses the active role of a emerging group of hotel- or inn-owners and mountain guides, often closely tied with the radical milieu. The analysis of social transactions raises critical questions about the role of patronage in political mobilization: horizontal cooperation and kinship ties between peasants, small cattle owners and artisans seem to explain political solidarities better than patronage structures.

The international competitiveness of cava : success of a particular firm or the district?

[spa] En primer lugar el autor se pregunta qué es lo que exactamente significa la palabra éxito aplicada al caso de la evolución reciente de la industria catalana del cava. La comparación de las trayectorias seguidas por la industria italiana del spumante y la del más reputado vino espumoso del mundo, el champagne, muestran una trayectoria muy positiva del volumen de producción y de las exportaciones. En segundo lugar el papel se pregunta por el agente responsable de este éxito. ¿Se debe a una empresa en particular o, por el contrario, al distrito en su conjunto, atendiendo que nos hallamos ante un sector muy concentrado geográficamente en torno a Sant Sadurní d’Anoia? La concentración de las exportaciones en más de dos tercios en manos de una sola empresa justificaría atribuir a dicha empresa el éxito. Sin embargo el análisis histórico de la formación del distrito industrial del cava en la zona del Penedés muestra como los productores se han podido beneficiar de las economías externas marshallianas inherentes a este tipo de concentraciones. El papel muestra que el éxito de la empresa exportadora líder se explica por la existencia de este tipo de ventajas invisibles derivadas de la concentración.

Soil aggregation in a crop-livestock integration system under no-tillage

Grazing intensities can influence soil aggregation, which can be temporarily and permanently affected. The objective of this study was to evaluate the aggregate stability in water at the end of a soybean cycle and during pasture development in a crop-livestock integration system under no-tillage and grazing intensities. The experiment was initiated in 2001, in a dystrophic Red Latosol, after soybean harvest. Treatments consisted of pasture (black oat + Italian ryegrass) at heights of 10, 20 and 40 cm, grazed by young cattle, and a control (no grazing), followed by soybean cultivation, in a randomized block design. Soil samples were collected at the end of the soybean cycle (May/2007), during animal grazing (September/2007) and at the end of the grazing cycle (November/2007). The grazing period influences aggregate distribution, since in the September sampling (0-5 cm layer), there was a higher proportion of aggregates > 4.76 mm at all grazing intensities. Soil aggregation is higher in no-tillage crop-livestock integration systems in grazed than in ungrazed areas.

Interpretation of primary care physicians' attitude regarding rotavirus immunisation using diffusion of innovation theories.

To evaluate primary care physicians' attitude towards implementation of rotavirus (RV) immunisation into the Swiss immunisation schedule, an eight-question internet-based questionnaire was sent to the 3799 subscribers of InfoVac, a nationwide web-based expert network on immunisation issues, which reaches >95% of paediatricians and smaller proportions of other primary care physicians. Five demographic variables were also inquired. Descriptive statistics and multivariate analyses for the main outcome "acceptance of routine RV immunisation" and other variables were performed. Diffusion of innovation theory was used for data assessment. Nine-hundred seventy-seven questionnaires were returned (26%). Fifty percent of participants were paediatricians. Routine RV immunisation was supported by 146 participants (15%; so called early adopters), dismissed by 620 (64%), leaving 211 (21%) undecided. However, when asked whether they would recommend RV vaccination to parents if it were officially recommended by the federal authorities and reimbursed, 467 (48.5%; so called early majority) agreed to recommend RV immunisation. Multivariate analysis revealed that physicians who would immunise their own child (OR: 5.1; 95% CI: 4.1-6.3), hospital-based physicians (OR: 1.6; 95% CI: 1.1-2.3) and physicians from the French (OR: 1.6; 95% CI: 1.2-2.3) and Italian speaking areas of Switzerland (OR: 2.5; 95% CI: 1.1-5.8) were more likely to support RV immunisation. Diffusion of innovation theory predicts a >80% implementation if approximately 50% of a given population support an innovation. Introduction of RV immunisation in Switzerland is likely to be successful, if (i) the federal authorities issue an official recommendation and (ii) costs are covered by basic health care insurance.

Prevalence of overweight and obesity in the Swiss population

Introduction: The latest data on prevalence of overweight (OW) and obesity (OB) in the general Swiss resident population rely on the Swiss Health Survey (SHS), a telephonic interview performed in 2007. However, body mass index (BMI) is underestimated when self-reported, leading to a misclassification of up to 60% of obese subjects. The last survey with measured BMI performed in the 3 linguistic regions of Switzerland dates back to 1977. We explored the regional prevalences of OW and OB by measured BMI in the general Swiss resident population. Methods: Cross-sectional population-based survey in the 3 linguistic regions of Switzerland in 2010-2011. Data on 1471 participants aged 15-95 years (712 men, 759 women) were available for the analysis. BMI was calculated from measured height and weight and categorized into 3 groups according to WHO classification: lean (<25 kg/m2), overweight (25-30 kg/m2) and obese (>= 30 kg/m2). Data on medication, smoking, education, physical activity and dietary habitudes were collected using a questionnaire. Results: The overall prevalence of OW and OB was 32.1% and 13.9%, respectively. OB prevalence was similar across the 3 linguistic regions (13.5% in German-, 15.6% in French- and 12.0% in Italian-speaking Switzerland, p = 0.40), unlike OW prevalence, which significantly differed in unadjusted analyses (35.4%, 29.1% and 25.4%, respectively, p = 0.005). In analyses including age, sex, smoking, physical activity and education as covariates, living in the Italian-speaking region was associated neither with BMI (linear regression) nor with OW or OB (logistic regressions) . Age (beta coefficient [SE]: 0.064[0.006] kg/m2 per year, p <0.001) and sex (-1.76 [0.23] kg/m2 in women, p <0.001) were significantly associated with BMI. Conclusions: Overweight and obesity affect nearly half of the Swiss population aged >15 years. We observed no significant differences across regions once we accounted for age, sex, education and lifestyle. Public health interventions addressing modifiable behavioral factors to reduce overweight and obesity in Switzerland can be expected to have substantial benefits.

The international competitiveness of cava : success of a particular firm or the district?

[spa] En primer lugar el autor se pregunta qué es lo que exactamente significa la palabra éxito aplicada al caso de la evolución reciente de la industria catalana del cava. La comparación de las trayectorias seguidas por la industria italiana del spumante y la del más reputado vino espumoso del mundo, el champagne, muestran una trayectoria muy positiva del volumen de producción y de las exportaciones. En segundo lugar el papel se pregunta por el agente responsable de este éxito. ¿Se debe a una empresa en particular o, por el contrario, al distrito en su conjunto, atendiendo que nos hallamos ante un sector muy concentrado geográficamente en torno a Sant Sadurní d’Anoia? La concentración de las exportaciones en más de dos tercios en manos de una sola empresa justificaría atribuir a dicha empresa el éxito. Sin embargo el análisis histórico de la formación del distrito industrial del cava en la zona del Penedés muestra como los productores se han podido beneficiar de las economías externas marshallianas inherentes a este tipo de concentraciones. El papel muestra que el éxito de la empresa exportadora líder se explica por la existencia de este tipo de ventajas invisibles derivadas de la concentración.

Multiple sulfatase deficiency with neonatal manifestation.

Multiple Sulfatase Deficiency (MSD; OMIM 272200) is a rare autosomal recessive inborn error of metabolism caused by mutations in the sulfatase modifying factor 1 gene, encoding the formyglycine-generating enzyme (FGE), and resulting in tissue accumulation of sulfatides, sulphated glycosaminoglycans, sphingolipids and steroid sulfates. Less than 50 cases have been published so far. We report a new case of MSD presenting in the newborn period with hypotonia, apnoea, cyanosis and rolling eyes, hepato-splenomegaly and deafness. This patient was compound heterozygous for two so far undescribed SUMF1 mutations (c.191C¿>¿A; p.S64X and c.818A¿>¿G; p.D273G).

Postglacial recolonization of the Valais (Switzerland) by the shrew Sorex antinorii: is dispersal sex-biased? A preliminary study

One male inherited and 8 biparentaly inherited microsatellite markers developed in the shrew Sorex antinorii were used to analyse population of this species from the Valais mountainous region of Switzerland. The analysis of the Y-chromosome microsatellite showed a nearly complete absence of male gene flow between populations from the Simplon Pass and the St-Bernard pass. These results suggest that the recolonization of the Valais from the Italian refugia after the last Pleistocene glaciations has been done through these two potential routes. To complete these results, we studied the same samples, as well as additional samples from intermediate localities, with a female inherited mtDNA marker. The highly variable D-Loop region of mtDNA was sequenced in 44 individuals. This mtDNA marker does not show a clear geographical structuration. The populations of the intermediate valleys are genetically closer to the populations of the Simplon region for the male marker, but not for the mtDNA marker. Simplon appears to have been the first route of colonisation of Valais. Female-biased dispersal could explain our results. This preliminary study exemplifies the interest of the analysis of sex-specific genetic markers in phylogeography.