Asthma and rhinitis have different genetic profiles for IL13, IL17A and GSTP1 polymorphisms

BACKGROUND: Asthma and rhinitis have a complex etiology, depending on multiple genetic and environmental risk factors. An increasing number of susceptibility genes are currently being identified, but the majority of reported associations have not been consistently replicated across populations of different genetic backgrounds. PURPOSE: To evaluate whether polymorphisms of IL4R (rs1805015), IL13 (rs20541), IL17A (rs2275913) and GSTP1 (rs1695) genes are associated with rhinitis and/or asthma in adults of Portuguese ancestry. METHODS: 192 unrelated healthy individuals and 232 patients, 83 with rhinitis and 149 with asthma, were studied. All polymorphisms were detected by real time polymerase chain reaction (PCR) using TaqMan assays. RESULTS: Comparing to controls, significant association with asthma was observed for GSTP1 rs1695 AA genotype (odds ratio (OR) - 1.96; 95% CI - 1.18 to 3.25; p=0.010). The association sustains for allergic asthma (OR - 2.17; 95% CI - 1.23 to 3.80; p=0.007). IL13 rs20541 GG genotype was associated with less susceptibility to asthma (OR - 0.55, 95% CI - 0.33 to 0.94, p=0.028). Among patients, IL17A rs2275913 AA genotype was less associated with asthma than with rhinitis (OR - 0.20; 95% CI of 0.07 to 0.56; p=0.002). A similar association was found for IL13 rs20541 GG genotype (OR - 0.48; 95% CI of 0.25 to 0.93; p=0.031). There were no significant differences in the distribution of allelic and genotypic frequencies between patients and controls for the IL4R polymorphism' analyzed. CONCLUSION: These results support the existence of a significant association between GSTP1 rs1695 and IL13 rs20541 SNPs, with susceptibility to asthma, in the population studied. Different genotype profiles of IL17A and IL13 genes seem to influence the clinical pattern of disease expression mainly confined to the upper airways, as rhinitis, or including the lower airways, as asthma.

Global change and climate-driven invasion of the Pacific oyster (Crassostrea gigas) along European coasts: a bioenergetics modelling approach

Aim The spread of non-indigenous species in marine ecosystems world-wide is one of today's most serious environmental concerns. Using mechanistic modelling, we investigated how global change relates to the invasion of European coasts by a non-native marine invertebrate, the Pacific oyster Crassostrea gigas. Location Bourgneuf Bay on the French Atlantic coast was considered as the northern boundary of C. gigas expansion at the time of its introduction to Europe in the 1970s. From this latitudinal reference, variations in the spatial distribution of the C. gigas reproductive niche were analysed along the north-western European coast from Gibraltar to Norway. Methods The effects of environmental variations on C. gigas physiology and phenology were studied using a bioenergetics model based on Dynamic Energy Budget theory. The model was forced with environmental time series including in situ phytoplankton data, and satellite data of sea surface temperature and suspended particulate matter concentration. Results Simulation outputs were successfully validated against in situ oyster growth data. In Bourgneuf Bay, the rise in seawater temperature and phytoplankton concentration has increased C. gigas reproductive effort and led to precocious spawning periods since the 1960s. At the European scale, seawater temperature increase caused a drastic northward shift (1400 km within 30 years) in the C. gigas reproductive niche and optimal thermal conditions for early life stage development. Main conclusions We demonstrated that the poleward expansion of the invasive species C. gigas is related to global warming and increase in phytoplankton abundance. The combination of mechanistic bioenergetics modelling with in situ and satellite environmental data is a valuable framework for ecosystem studies. It offers a generic approach to analyse historical geographical shifts and to predict the biogeographical changes expected to occur in a climate-changing world.

O zambê é nossa cultura: o coco de zambê e a emergência étnica em Sibaúma, Tibau do Sul-RN

The coco de zambê is a dance of which origin is credited to old slaves who inhabited the coastalregion of Rio Grande do Norte. The zambê appears intensely in the narratives related to the past and present of Sibaúma, a quilombola community located in the southern coast of the state. It is conceived as a sign of ethnicity linked to a local black ancestry. The group is known as "remnant of Quilombo," and is demanding the process of territorial settlement, as guaranteed through the Brazilian federal constitution. The coco de zambê, presented as a kind of "certificate of ancestry to the group, besides, after a long period of abandonment, the dance is beeing "revitalized" and exploited by a part of the group alongside the demands for recognition. In this process there are several interlinked actors: NGOs, state agencies to promote the culture, representatives of public authorities and local leaders. Here, I'm interested in understanding how this process of revival occurs with the coco de zambê in Sibaúma: how a "brincadeira" (play) of the ancients comes to be a "cultural reference" and a means of political mobilization concerning their recognition

Análise biogeográfica da dieta de um predador de topo ao longo da região Paleártica

Existem vários estudos sobre a dieta de predadores de topo a uma escala local, mas o estudo da dieta de uma espécie ao longo de diferentes regiões geográficas poderá permitir a deteção de certos padrões e variações ecológicas. Para estudar a variação biogeográfica da dieta do bufo-real (Bubo bubo) ao longo do Paleártico criou-se uma base de dados baseada em 192 estudos. Pretendia-se analisar padrões em macro-escala de descritores da dieta e avaliar o efeito de diferentes condições ambientais, de descritores da paisagem e da disponibilidade de presas. Registaram-se 346813 presas de 698 espécies distintas. As principais presas são os lagomorfos e os roedores, enquanto que as aves constituem importantes presas alternativas. Temperaturas mais elevadas favorecem a diversidade trófica, mas esta diminui com a latitude e a longitude. Os resultados revelam a natureza oportunista do bufo-real e a sua elevada adaptabilidade trófica a diferentes habitats e condições ambientais; Biogeographic analysis of a top predator's diet across the Paleartic Region Summary: There are several studies about top predators' diet at a local scale, but studying a species diet across different geographic regions may allow the detection of certain patterns and variations which might influence its ecological features. We created a database of 192 papers to study the diet of the Eurasian Eagle Owl (Bubo bubo) across the Palearctic region. We analysed large scale biogeographical patterns of diet descriptors in relation to different environmental conditions, including climate, landscape and prey availability. We recorded 346816 preys from 698 different species. The main prey groups are lagomorphs and rodents, whereas birds represent important alternative prey. Higher temperatures favour a higher trophic diversity, which in turn decreases at lower latitudes and longitudes. The results reveal the opportunistic nature of the Eurasian Eagle Owl and its high trophic adaptability to different habitats and environments.

Landscape metrics as indicators of coastal morphology and its use in ecological niche modelling of seagrass species

Dependence of some species on landscape structure has been proved in numerous studies. So far, however, little progress has been made in the integration of landscape metrics in the prediction of species associated with coastal features. Specific landscape metrics were tested as predictors of coastal shape using three coastal features of the Iberian Peninsula (beaches, capes and gulfs) at different scales. We used the landscape metrics in combination with environmental variables to model the niche and find suitable habitats for a seagrass species (Cymodocea nodosa) throughout its entire range of distribution. Landscape metrics able to capture variation in the coastline enhanced significantly the accuracy of the models, despite the limitations caused by the scale of the study. We provided the first global model of the factors that can be shaping the environmental niche and distribution of C. nodosa throughout its range. Sea surface temperature and salinity were the most relevant variables. We identified areas that seem unsuitable for C. nodosa as well as those suitable habitats not occupied by the species. We also present some preliminary results of testing historical biogeographical hypotheses derived from distribution predictions under Last Glacial Maximum conditions and genetic diversity data.

Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a colombian family

Background: Mutations of GDAP1 gene cause autosomal dominant and autosomal recessive Charcot-Marie-Tooth disease and more than 40 different mutations have been reported. The recessive Q163X mutation has been described in patients of Spanish ancestry, and a founder mutation in South American patients, originating in Spain has been demonstrated. Objective: We describe physical and histological features, and the molecular impact of mutation Q163X in a Colombian family. Methods: We report two female patients, daughters of consanguineous parents, with onset of symptoms within the first two years of life, developing severe functional impairment, without evidence of dysmorphic features, hoarseness or diaphragmatic paralysis. Electrophysiology tests showed a sensory and motor neuropathy with axonal pattern. Sequencing of GDAP1 gene was requested and the study identified a homozygous point mutation (c.487 C>T) in exon 4, resulting in a premature stop codon (p.Q163X). This result confirms the diagnosis of Charcot-Marie-Tooth disease, type 4A. Results: The patients were referred to Physical Medicine and Rehabilitation service, in order to be evaluated for ambulation assistance. They have been followed by Pulmonology service, for pulmonary function assessment and diaphragmatic paralysis evaluation. Genetic counseling was offered. The study of the genealogy of the patient, phenotypic features, and electrophysiological findings must be included as valuable tools in the clinical approach of the patient with Charcot-Marie-Tooth disease, in order to define a causative mutation. In patients of South American origin, the presence of GDAP1 gene mutations should be considered, especially the Q163X mutation, as the cause of CMT4A disease.

Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a colombian family

Background: Mutations of GDAP1 gene cause autosomal dominant and autosomal recessive Charcot-Marie-Tooth disease and more than 40 different mutations have been reported. The recessive Q163X mutation has been described in patients of Spanish ancestry, and a founder mutation in South American patients, originating in Spain has been demonstrated. Objective: we describe physical and histological features, and the molecular impact of mutation Q163X in a Colombian family. Methods: We report two female patients, daughters of consanguineous parents, with onset of symptoms within the first two years of life, developing severe functional impairment, without evidence of dysmorphic features, hoarseness or diaphragmatic paralysis. Electrophysiology tests showed a sensory and motor neuropathy with axonal pattern. Sequencing of GDAP1 gene was requested and the study identified a homozygous point mutation (c.487 C>T) in exon 4, resulting in a premature stop codon (p.Q163X). This result confirms the diagnosis of Charcot-Marie-Tooth disease, type 4A. Results: The patients were referred to Physical Medicine and Rehabilitation service, in order to be evaluated for ambulation assistance. They have been followed by Pulmonology service, for pulmonary function assessment and diaphragmatic paralysis evaluation. Genetic counseling was offered. The study of the genealogy of the patient, phenotypic features, and electrophysiological findings must be included as valuable tools in the clinical approach of the patient with Charcot-Marie-Tooth disease, in order to define a causative mutation. In patients of South American origin, the presence of GDAP1 gene mutations should be considered, especially the Q163X mutation, as the cause of CMT4A disease.

Prediction of adult height in girls: the Beunen-MalinaFreitas method

The purpose of this study was to validate and cross-validate the Beunen-Malina-Freitas method for non-invasive prediction of adult height in girls. A sample of 420 girls aged 10–15 years from the Madeira Growth Study were measured at yearly intervals and then 8 years later. Anthropometric dimensions (lengths, breadths, circumferences, and skinfolds) were measured; skeletal age was assessed using the Tanner-Whitehouse 3 method and menarcheal status (present or absent) was recorded. Adult height was measured and predicted using stepwise, forward, and maximum R2 regression techniques. Multiple correlations, mean differences, standard errors of prediction, and error boundaries were calculated. A sample of the Leuven Longitudinal Twin Study was used to cross-validate the regressions. Age-specific coefficients of determination (R2) between predicted and measured adult height varied between 0.57 and 0.96, while standard errors of prediction varied between 1.1 and 3.9 cm. The cross-validation confirmed the validity of the Beunen-Malina-Freitas method in girls aged 12–15 years, but at lower ages the cross-validation was less consistent. We conclude that the Beunen-Malina-Freitas method is valid for the prediction of adult height in girls aged 12–15 years. It is applicable to European populations or populations of European ancestry.

Adaptive cultural transmission biases in children and nonhuman primates

Comparative and evolutionary developmental analyses seek to discover the similarities and differences between humans and non-human species that illuminate both the evolutionary foundations of our nature that we share with other animals, and the distinctive characteristics that make human development unique. As our closest animal relatives, with whom we last shared common ancestry, non-human primates have beenparticularly important in this endeavour. Such studies that have focused on social learning, traditions, and culture have discovered much about the ‘how’ of social learning, concerned with key underlying processes such as imitation and emulation. One of the core discoveries is that the adaptive adjustment of social learning options to different contexts is not unique to human infants, therefore multiple new strands of research have begun to focus on more subtle questions about when, from whom, and why such learning occurs. Here we review illustrative studies on both human infants and young children and on non-human primates to identify the similarities shared more broadly across the primate order, and the apparent specialisms that distinguish human development. Adaptive biases in social learning discussed include those modulated by task comprehension, experience, conformity to majorities, and the age, skill, proficiency and familiarity of potential alternative cultural models.

The taxonomy, zoogeography and ecology of amphibians and reptiles of Hin Nam No National Protected Area (Laos) in comparison with data from Phong Nha – Ke Bang National Park (Vietnam).

In this thesis the mostly unknown herpetofauna in Hin Nam No National Protected Area Laos in the northern Truong Son Range was for the first time intensively investigated, and its diversity was compared to the bordering, and well-investigated Phong Nha - Ke Bang National Park in Vietnam. Twelve new vertebrate species were described comprising 11 geckonids (Cyrtodactylus bansocensis, C. calamei, C. hinnamnoensis, C. jaegeri, C. rufford, C. sommerladi, C. soudthichaki, Gekko boehmei, G. bonkowskii, G. sengchanthavongi, G. thakhekensis, Lycodon banksi and one colubrid snake (Lycodon banksi). Seven species were discovered for the first time in Laos including three frogs (Gracixalus quyeti, G. supercornutus, Rhacophorus maximus), two geckos (Cyrtodactylus cryptus, C. pseudoquadrivirgatus) and two snakes (Lycodon futsingensis, L. ruhstrati abditus). The main hypothesis that the Truong Son Range acted as a biogeographic barrier for the distribution of amphibians and reptiles could be confirmed at least for karst adapted gekkonids. Compared to other herpetofaunal groups the number of gekkonids in karst formations was particularly high (seven bent-toed geckos, four true geckos). By comparing the relative amounts of shared species in Hin Nam No and Phong Nha - Ke Bang, it is interesting to note that fewer reptile species (38%) than amphibian species (66%) were shared between both regions. This might indicate that the Truong Son Range acts as a stronger biogeographical barrier for reptiles than for amphibians. Two pairs of karst-adapted cryptic gecko species (i.e. species with distinct genetic differences, but a similar phenotype) occurred on both sides of the Truong Son Range. Only in one case these were sibling species (Crytodactylus sommerladi in Laos versus C. roesleri in Vietnam), but not in the other (C. hinnamnoensis in Laos versus C. phongnhakebangensis in Vietnam). On the Laotian side, nine gecko species (Cyrtodactylus bansocensis, C. calamei, C. darevskii, C. hinnamnoensis, C. khammouanensis, C. multiporus, C. sommerladi, G. boehmei, G. sengchanthavongi) currently have to be regarded as endemic to the Hin Nam No region. On the Vietnamese side, seven species including two bent-toed geckos (Cyrtodactylus phongnhakebangensis and C. roesleri), three skinks (Lygosoma boehmei, Sphenomorphus tetradactylus and Tropidophorus noggei), and two snakes (Hebius andreae and Boiga bourreti) are currently only known from Phong Nha - Ke Bang and adjacent regions. These high numbers of potential endemic species together with the cryptic species complex in Cyrtodactylus provide strong evidence that the karst formations in the northern Truong Son Range represent a hot spot of reptile diversity and of speciation in Crytodactylus in particular. Correct species identification is a fundamental requirement for conservation measures. The discovery of cryptic species complexes poses a challenge for alpha taxonomy and species conservation, because the true distribution ranges of the species are in fact much smaller than previously assumed. Species conservation in this area of Laos is facing a number of further problems. New and potentially endemic species were discovered in highly populated and disturbed areas. Conversion of the Ho Chi Minh Trail into a highway provided easy access for farmers and still continues to accelerate the destruction of remote forest areas. Southern Hin Nam No with its high diversity of endemic species was identified as the first priority area for conservation. Also Ban Soc, an area isolated from Hin Nam No, should be among the conservation priorities because this region houses a so far overlooked population of the critically endangered Siamese crocodile. Efforts to establish a legal conservation status for this habitat are in progress.

Protect your body, your temple : Get the Facts about Sickle Cell Disease and Sickle Cell Trait

These bookmarks state: Sickle cell disease is an inherited blood disorder that affects red blood cells and causes organ damage, anemia, and lifelong episodes of pain. The disease most commonly affects people of African, Asian, Mediterranean, Central and South American ancestry. About 70,000 Americans are currently diagnosed with sickle cell anemia. Newborn screening for sickle cell disease and trait is required in South Carolina and most other states. One in 10 African Americans has the sickle cell trait. Knowing if you have the trait is important! Also is a list of available resources with addresses and phone numbers.

Prediction of adult height in girls: the Beunen-MalinaFreitas method

The purpose of this study was to validate and cross-validate the Beunen-Malina-Freitas method for non-invasive prediction of adult height in girls. A sample of 420 girls aged 10–15 years from the Madeira Growth Study were measured at yearly intervals and then 8 years later. Anthropometric dimensions (lengths, breadths, circumferences, and skinfolds) were measured; skeletal age was assessed using the Tanner-Whitehouse 3 method and menarcheal status (present or absent) was recorded. Adult height was measured and predicted using stepwise, forward, and maximum R2 regression techniques. Multiple correlations, mean differences, standard errors of prediction, and error boundaries were calculated. A sample of the Leuven Longitudinal Twin Study was used to cross-validate the regressions. Age-specific coefficients of determination (R2) between predicted and measured adult height varied between 0.57 and 0.96, while standard errors of prediction varied between 1.1 and 3.9 cm. The cross-validation confirmed the validity of the Beunen-Malina-Freitas method in girls aged 12–15 years, but at lower ages the cross-validation was less consistent. We conclude that the Beunen-Malina-Freitas method is valid for the prediction of adult height in girls aged 12–15 years. It is applicable to European populations or populations of European ancestry.

Atlas versus range maps: robustness of chorological relationships to distribution data types in European mammals

Aim Chorological relationships describe the patterns of distributional overlap among species. In addition to revealing biogeographical structure, the resulting clusters of species with similar geographical distributions can serve as natural units in conservation planning. Here, we assess the extent to which temporal, methodological and taxonomical differences in the source of species’ distribution data can affect the relationships that are found.

Positive regional species-people correlations: A sampling artefact or a key issue for sustainable development?

Many studies are documenting positive large-scale species– people correlations (Luck, 2007; Schuldt & Assmann, 2010). The issue is scale dependent: the local association of species richness and people is in many cases a negative one (Pautasso, 2007; Pecher et al., 2010). This biogeographical pattern is thus important for conservation. If species-rich regions are also densely populated, preserving biodiversity becomes more difficult, ceteris paribus, than if species-rich regions were sparsely populated. At the same time, positive, regional species–people correlations are an opportunity for the biodiversity education of the majority of the human population and underline the importance of conservation in human-modified landscapes (e.g. Sheil & Meijaard, 2010; Ward, 2010).

Purity of Blood and the Curial Market in Iberian Cathedrals

This article analyses the dynamics of accessing cathedral chapters with purity of blood statutes in the Iberian Peninsula, from a comparative perspective, and the interaction with the phenomenon of commodification of ecclesiastical benefices. This phenomenon created a Curial market that was open to any applicant with sufficient economic capacity, regardless of their ancestry. What was the result of the clash between the Iberian concept of purity and the commodified Roman reality?