Novel clinical and molecular findings in Spanish patients with naevoid basal cell carcinoma syndrome.

BACKGROUND: Naevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by developmental alterations and multiple basal cell carcinomas. Mutations in PTCH1, which encodes a membrane receptor for Sonic Hedgehog, are associated with the development of the disease. Most of them produce a truncated protein, which is unable to suppress Smoothened protein and continuously activates the downstream pathway. OBJECTIVES: We aimed to characterize 22 unrelated Spanish patients with NBCCS, the largest cohort with Gorlin syndrome reported to date in Spain. METHODS: Genomic analysis of PTCH1 was performed in patients with NBCCS and controls, and mutations were analysed using bioinformatics tools. RESULTS: We report for the first time two young patients, one each with uterus didelphys and ganglioneuroma, within the context of NBCCS. One patient showing a severe phenotype of the disease had developed basal cell carcinomas since childhood. Sanger sequencing of PTCH1 in this cohort identified 17 novel truncating mutations (11 frameshift, five nonsense and one mutation affecting an exon-intron splice site) and two novel missense mutations that were predicted to be pathogenic. The patients showed great clinical variability and inconsistent genotype-phenotype correlation, as seen in relatives carrying similar mutations. CONCLUSIONS: This study contributes to increase the pool of clinical manifestations of NBCCS, as well as increasing the number of pathogenic mutations identified in PTCH1 predisposing to the condition. The inconsistencies found between phenotype and genotype suggest the involvement of other modifying factors, genetic, epigenetic or environmental.

Short-term prediction of Betula airborne pollen concentration in Vigo (NW Spain) using logistic additive models and partially linear models.

Betula pollen is a common cause of pollinosis in localities in NW Spain and between 13% and 60% of individuals who are immunosensitive to pollen grains respond positively to its allergens. It is important in the case of all such people to be able to predict pollen concentrations in advance. We therefore undertook an aerobiological study in the city of Vigo (Pontevedra, Spain) from 1995 to 2001, using a Hirst active-impact pollen trap (VPPS 2000) situated in the city centre. Vigo presents a temperate maritime climate with a mean annual temperature of 14.9 degrees C and 1,412 mm annual total precipitation. This paper analyses two ways of quantifying the prediction of pollen concentration: first by means of a generalized additive regression model with the object of predicting whether the series of interest exceeds a certain threshold; second using a partially linear model to obtain specific prediction values for pollen grains. Both models use a self-explicative part and another formed by exogenous meteorological factors. The models were tested with data from 2001 (year in which the total precipitation registered was almost twice the climatological average overall during the flowering period), which were not used in formulating the models. A highly satisfactory classification and good forecasting results were achieved with the first and second approaches respectively. The estimated line taking into account temperature and a calm S-SW wind, corresponds to the real line recorded during 2001, which gives us an idea of the proposed model's validity.

Effect of air temperature on forecasting the start of the Betula pollen season at two contrasting sites in the south of Europe (1995-2001).

In order to survive periods of adverse cold climatic conditions, plant requirements are satisfied by means of physiological adaptations to prevent cells from freezing. Thus, the growth of woody plants in temperate regions slows down and they enter into a physiological state called dormancy. In order to identify the chilling and heat requirements to overcome the dormancy period of Betula in the south of Europe, a comparative study was carried out with aerobiological pollen data of a 7-year (1995-2001) period in Vigo (Spain) and Perugia (Italy). To satisfy chilling requirements, base temperatures of 7 degrees C and 5.75 degrees C showed a lower standard variation coefficient: 3.94% and 2.36% in Perugia and Vigo respectively. In the case of heat accumulation, the sum of mean temperatures in Perugia and the sum of maximum temperatures in Vigo were the parameters that showed a minor coefficient of variation (11.13% and 14.51% respectively).

Pinus pollen in the atmosphere of Vigo and its relationship to meteorological factors.

The Pinus genus has an elevated pollen production and an anemophilous nature. Although considered to be hypoallergenic, numerous cases of allergies caused by Pinus pollen have been cited and different authors believe that its allergenicity should be studied in more depth. In the city of Vigo several patients have tested positive for Pinus pollen extracts in skin tests, some of them being mono-sensitive to such pollens. In order to ascertain the behaviour of Pinus pollen and its correlation to the main meteorological factors, we carried out an aerobiological study in the city of Vigo from 1995 to 1998 by using a Hirst active-impact volumetric sporetrap, model Lanzoni VPPS 2000, placed on the left bank of the Vigo estuary (42 degrees 14'15"N, 8 degrees 43'30"W). Pinus has high quantitative importance in the airborne pollen spectrum of the city. It is one of the best represented taxa constituting 13%-20% of the total annual pollen levels. The quantity of Pinus pollen present in the atmosphere of the city of Vigo throughout a year is 5,751 grains (as the average for the sampled years), with a very long pollination period, from the middle of January until May. The maximum concentration was recorded in 1998 with 1,105 grains/m(3) on 3 March, a much greater value than those for the previous years. At the end of its pollination period there is usually a final increase in Pinus pollen concentrations coinciding with the pollination of Pinus silvestris, which are more abundant in mountainous areas far from the city.