Chemical Quality of Rainwater and Surface Runoff Water in the Proximity of the Abstractions That Supply the São Pedro do Sul Medical Spa (Portugal)

São Pedro do Sul medical spa provides health services using hot natural groundwater superiorly classified as natural mineral water. The main source of supply of that medical spa, has been over time, the Traditional Spring, which in recent decades has been systematically controlled, and shows spectacular constancy in its chemical quality, if there are no outside contaminations. Within the context presented, the detailed physical-chemical quality of rainwater and surface runoff water was studied, in the proximity of the Traditional Spring, as there is a potential for them to infiltrate at depth and evolve into the natural mineral water aquifer system. Thus, in the present chapter, after presenting the physical-chemical quality of the natural mineral water from the Traditional Spring, as well as some elements of the literature on the physical-chemical quality of rainwater, the methodology of work is followed, and then the results obtained from the physical-chemical composition of rainwater and surface run-off water are presented and discussed, comparing them with the quality of the water from the Traditional Spring. Finally, the main conclusions are presented, and some recommendations are made on research into potential sources of pollution, which justify the poor quality of the rainwater studied

High-cell-density fermentation of Saccharomyces cerevisiae for the optimisation of mead production

Mead is a traditional drink that contains 8 % and 18 % (v/v) of ethanol, resulting from the alcoholic fermentation of diluted honey by yeasts. Mead fermentation is a time-consuming process and the quality of the final product is highly variable. Therefore, the present investigation had two main objectives: first, to determine the adequate inoculum size of two commercial wine-making strains of Saccharomyces cerevisiae for the optimisation of mead fermentation; and second, to determine if an increase in yeast pitching rates in batch fermentations altered the resulting aroma profiles. Minor differences were detected in the growth kinetics between the two strains at the lowest pitching rate. With increasing pitching rates net growth of the strain ICV D47 progressively decreased, whereas for the QA23 the increasing inoculum size had no influence on its net growth. The time required to reach the same stage of fermentation ranged from 24 to 96 h depending on the inoculum size. The final aroma composition was dependent on the yeast strain and inoculum size. Fourteen of the twenty-seven volatile compounds quantified could contribute to mead aroma and flavour because their concentrations rose above their respective thresholds. The formation of these compounds was particularly pronounced at low pitching rates, except in mead fermented by strain ICV D47, at 106 CFUs/mL. The esters isoamyl acetate, ethyl octanoate and ethyl hexanoate were the major powerful odourants found in the meads. The results obtained in this study demonstrate that yeast strain and inoculum size can favourably impact mead’s flavour and aroma profiles.The research presented in this paper was partially funded by the Fundacao para a Ciencia e Tecnologia, (FCT) and by PTDC projects (contracts PTDC/AGR-ALI/68284/2006). A.P.P. is a recipient of a Ph.D. grant from FCT (SFRH/BD/45820/2008)

The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies

Acessível em: www.ncbi.nlm.nih.gov/pmc/articles/PMC4423738/Lysosomal α-galactosidase A (α-Gal) is the enzyme deficient in Fabry disease (FD), an X-linked glycosphingolipidosis caused by pathogenic mutations affecting the GLA gene. The early-onset, multi-systemic FD classical phenotype is associated with absent or severe enzyme deficiency, as measured by in vitro assays, but patients with higher levels of residual α-Gal activity may have later-onset, more organ-restricted clinical presentations. A change in the codon 118 of the wild-type α-Gal sequence, replacing basic arginine by a potentially sulfhydryl-binding cysteine residue - GLA p.(Arg118Cys) -, has been recurrently described in large FD screening studies of high-risk patients. Although the Cys118 allele is associated with high residual α-Gal activity in vitro, it has been classified as a pathogenic mutation, mainly on the basis of theoretical arguments about the chemistry of the cysteine residue. However its pathogenicity has never been convincingly demonstrated by pathology criteria. We reviewed the clinical, biochemical and histopathology data obtained from 22 individuals of Portuguese and Spanish ancestry carrying the Cys118 allele, including 3 homozygous females. Cases were identified either on the differential diagnosis of possible FD manifestations and on case-finding studies (n=11; 4 males), or on unbiased cascade screening of probands' close relatives (n=11; 3 males). Overall, those data strongly suggest that the GLA p.(Arg118Cys) variant does not segregate with FD clinical phenotypes in a Mendelian fashion, but might be a modulator of the multifactorial risk of cerebrovascular disease. The Cys118 allelic frequency in healthy Portuguese adults (n=696) has been estimated as 0.001, therefore not qualifying for "rare" condition

Fluctuating asymmetry in dental and mandibular nonmetric traits as evidence for childcare sex bias in 19th/20th century Portugal.

Fluctuating asymmetry, often considered a measure of developmental instability, was studied in the dental morphological traits of 600 individuals from among the poorest sectors of society in 19th-20th century Portugal. The aims are to identify and interpret any differences between: (1) males and females, and (2) patterns of distribution among teeth with different odontogenic timings, to assess if any sex bias existed in childcare. Dental and mandibular morphological traits were recorded using the Arizona State University Dental Anthropology System. z-Ratios were used to compare summed absolute fluctuating asymmetry frequencies between sexes and age groups. Results from rank correlation coefficients ruled out directional asymmetry and antisymmetry, based on positive (>0.2) bilateral association of traits in larger samples. Sex differences were significant (z-ratio=3.128; p=0.0018), while age differences were not (z-ratio=-0.644; p=0.5196). Teeth forming after infancy tended to be more asymmetric in females. Potential reasons for the sex difference include: (1) greater female susceptibility to developmental instability, (2) greater male childhood mortality that yields lower fluctuating asymmetry in surviving males, and/or (3) cultural bias favoring male access to resources. Results suggest the latter hypothesis is most likely, as fluctuating asymmetry is enhanced during childhood, perhaps coinciding with gender role definitions. There seems to be no association between asymmetry and early mortality in males. A lack of parallels in prior research renders differential sex reaction to environmental stress dubious. This population may have favored male children in their access to appropriate conditions for development