Spectrum of ankylosing spondylitis in Portugal. Development of BASDAI, BASFI, BASMI and mSASSS reference centile charts

The availability of population-specific normative data regarding disease severity measures is essential for patient assessment. The goals of the current study were to characterize the pattern of ankylosing spondylitis (AS) in Portuguese patients and to develop reference centile charts for BASDAI, BASFI, BASMI and mSASSS, the most widely used assessment tools in AS. AS cases were recruited from hospital outpatient clinics, with AS defined according to the modified New York criteria. Demographic and clinical data were recorded. All radiographs were evaluated by two independent experienced readers. Centile charts for BASDAI, BASFI, BASMI and mSASSS were constructed for both genders, using generalized linear models and regression models with duration of disease as independent variable. A total of 369 patients (62.3% male, mean ± (SD) age 45.4 ± 13.2 years, mean ± (SD) disease duration 11.4 ± 10.5 years, 70.7% B27-positive) were included. Family history of AS in a first-degree relative was reported in 17.6% of the cases. Regarding clinical disease pattern, at the time of assessment 42.3% had axial disease, 2.4% peripheral disease, 40.9% mixed disease and 7.1% isolated enthesopatic disease. Anterior uveitis (33.6%) was the most common extra-articular manifestation. The centile charts suggest that females reported greater disease activity and more functional impairment than males but had lower BASMI and mSASSS scores. Data collected through this study provided a demographic and clinical profile of patients with AS in Portugal. The development of centile charts constitutes a useful tool to assess the change of disease pattern over time and in response to therapeutic interventions.

ANKH and susceptibility to and severity of ankylosing spondylitis

Objective. Unconfirmed reports describe association of ankylosing spondylitis (AS) with several candidate genes including ANKH. Cellular export of inorganic pyrophosphate is regulated by the ANK protein, and mutant mice (ank/ank), which have a premature stop codon in the 3′ end of the ank gene, develop severe ankylosis. We tested the association between single-nucleotide polymorphisms (SNP) in these genes and susceptibility to AS in a population of patients with AS. We investigated the role of these genes in terms of functional (BASFI) and metrological (BASMI) measures, and the association with radiological severity (mSASSS). Methods. Our study was conducted on 355 patients with AS and 95 ethnically matched healthy controls. AS was defined according to the modified New York criteria. Four SNP in ANKH (rs27356, rs26307, rs25957, and rs28006) were genotyped. Association analysis was performed using Cochrane-Armitage and linear regression tests for dichotomous and quantitative variables. Analyses of Bath Ankylosing Spondylitis Disease Activity Index (BASDAI), BASFI, and mSASSS were controlled for sex and disease duration. Results. None of the 4 markers showed significant single-locus disease associations (p > 0.05), suggesting that ANKH was not a major determinant of AS susceptibility in our population. No association was observed between these SNP and age at symptom onset, BASDAI, BASFI, BASMI, or mSASSS. Conclusion. These results confirm data in white Europeans that ANKH is probably not a major determinant of susceptibility to AS. ANKH polymorphisms do not markedly influence AS disease severity, as measured by BASMI and mSASSS. The Journal of Rheumatology

La modernización entre cafetales : San José, Costa Rica, 1880-1930

This work examines the urban modernization of San José, Costa Rica, between 1880 and 1930, using a cultural approach to trace the emergence of the bourgeois city in a small Central American capital, within the context of order and progress. As proposed by Henri Lefebvre, Manuel Castells and Edward Soja, space is given its rightful place as protagonist. The city, subject of this study, is explored as a seat of social power and as the embodiment of a cultural transformation that took shape in that space, a transformation spearheaded by the dominant social group, the Liberal elite. An analysis of the product built environment allows us to understand why the city grew in a determined manner: how the urban space became organized and how its infrastructure and services distributed. Although the emphasis is on the Liberal heyday from 1880-1930, this study also examines the history of the city since its origins in the late colonial period through its consolidation as a capital during the independent era, in order to characterize the nineteenth century colonial city that prevailed up to 1890 s. A diverse array of primary sources including official acts, memoirs, newspaper sources, maps and plans, photographs, and travelogues are used to study the initial phase of San Jose s urban growth. The investigation places the first period of modern urban growth at the turn of the nineteenth century within the prevailing ideological and political context of Positivism and Liberalism. The ideas of the city s elite regarding progress were translated into and reflected in the physical transformation of the city and in the social construction of space. Not only the transformations but also the limits and contradictions of the process of urban change are examined. At the same time, the reorganization of the city s physical space and the beginnings of the ensanche are studied. Hygiene as an engine of urban renovation is explored by studying the period s new public infrastructure (including pipelines, sewer systems, and the use of asphalt pavement) as part of the Saneamiento of San José. The modernization of public space is analyzed through a study of the first parks, boulevards and monuments and the emergence of a new urban culture prominently displayed in these green spaces. Parks and boulevards were new public and secular places of power within the modern city, used by the elite to display and educate the urban population into the new civic and secular traditions. The study goes on to explore the idealized image of the modern city through an analysis of European and North American travelogues and photography. The new esthetic of theatrical-spectacular representation of the modern city constructed a visual guide of how to understand and come to know the city. A partial and selective image of generalized urban change presented only the bourgeois facade and excluded everything that challenged the idea of progress. The enduring patterns of spatial and symbolic exclusion built into Costa Rica s capital city at the dawn of the twentieth century shed important light on the long-term political social and cultural processes that have created the troubled urban landscapes of contemporary Latin America.

New genetic loci link adipose and insulin biology to body fat distribution

Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10−8). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms.

Genetic studies of body mass index yield new insights for obesity biology

Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure commonly used to define obesity and assess adiposity, in up to 339,224 individuals. This analysis identifies 97 BMI-associated loci (P < 5 × 10−8), 56 of which are novel. Five loci demonstrate clear evidence of several independent association signals, and many loci have significant effects on other metabolic phenotypes. The 97 loci account for ~2.7% of BMI variation, and genome-wide estimates suggest that common variation accounts for >20% of BMI variation. Pathway analyses provide strong support for a role of the central nervous system in obesity susceptibility and implicate new genes and pathways, including those related to synaptic function, glutamate signalling, insulin secretion/action, energy metabolism, lipid biology and adipogenesis.

Defining the role of common variation in the genomic and biological architecture of adult human height

Using genome-wide data from 253,288 individuals, we identified 697 variants at genome-wide significance that together explained one-fifth of the heritability for adult height. By testing different numbers of variants in independent studies, we show that the most strongly associated approximately 2,000, approximately 3,700 and approximately 9,500 SNPs explained approximately 21%, approximately 24% and approximately 29% of phenotypic variance. Furthermore, all common variants together captured 60% of heritability. The 697 variants clustered in 423 loci were enriched for genes, pathways and tissue types known to be involved in growth and together implicated genes and pathways not highlighted in earlier efforts, such as signaling by fibroblast growth factors, WNT/beta-catenin and chondroitin sulfate-related genes. We identified several genes and pathways not previously connected with human skeletal growth, including mTOR, osteoglycin and binding of hyaluronic acid. Our results indicate a genetic architecture for human height that is characterized by a very large but finite number (thousands) of causal variants.

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index

Obesity is globally prevalent and highly heritable, but its underlying genetic factors remain largely elusive. To identify genetic loci for obesity susceptibility, we examined associations between body mass index and approximately 2.8 million SNPs in up to 123,865 individuals with targeted follow up of 42 SNPs in up to 125,931 additional individuals. We confirmed 14 known obesity susceptibility loci and identified 18 new loci associated with body mass index (P < 5 x 10(-)(8)), one of which includes a copy number variant near GPRC5B. Some loci (at MC4R, POMC, SH2B1 and BDNF) map near key hypothalamic regulators of energy balance, and one of these loci is near GIPR, an incretin receptor. Furthermore, genes in other newly associated loci may provide new insights into human body weight regulation.

Hundreds of variants clustered in genomic loci and biological pathways affect human height

Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants associated with human traits, but these typically explain small fractions of phenotypic variation, raising questions about the use of further studies. Here, using 183,727 individuals, we show that hundreds of genetic variants, in at least 180 loci, influence adult height, a highly heritable and classic polygenic trait. The large number of loci reveals patterns with important implications for genetic studies of common human diseases and traits. First, the 180 loci are not random, but instead are enriched for genes that are connected in biological pathways (P = 0.016) and that underlie skeletal growth defects (P < 0.001). Second, the likely causal gene is often located near the most strongly associated variant: in 13 of 21 loci containing a known skeletal growth gene, that gene was closest to the associated variant. Third, at least 19 loci have multiple independently associated variants, suggesting that allelic heterogeneity is a frequent feature of polygenic traits, that comprehensive explorations of already-discovered loci should discover additional variants and that an appreciable fraction of associated loci may have been identified. Fourth, associated variants are enriched for likely functional effects on genes, being over-represented among variants that alter amino-acid structure of proteins and expression levels of nearby genes. Our data explain approximately 10% of the phenotypic variation in height, and we estimate that unidentified common variants of similar effect sizes would increase this figure to approximately 16% of phenotypic variation (approximately 20% of heritable variation). Although additional approaches are needed to dissect the genetic architecture of polygenic human traits fully, our findings indicate that GWA studies can identify large numbers of loci that implicate biologically relevant genes and pathways.

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

Waist-hip ratio (WHR) is a measure of body fat distribution and a predictor of metabolic consequences independent of overall adiposity. WHR is heritable, but few genetic variants influencing this trait have been identified. We conducted a meta-analysis of 32 genome-wide association studies for WHR adjusted for body mass index (comprising up to 77,167 participants), following up 16 loci in an additional 29 studies (comprising up to 113,636 subjects). We identified 13 new loci in or near RSPO3, VEGFA, TBX15-WARS2, NFE2L3, GRB14, DNM3-PIGC, ITPR2-SSPN, LY86, HOXC13, ADAMTS9, ZNRF3-KREMEN1, NISCH-STAB1 and CPEB4 (P = 1.9 × 10−9 to P = 1.8 × 10−40) and the known signal at LYPLAL1. Seven of these loci exhibited marked sexual dimorphism, all with a stronger effect on WHR in women than men (P for sex difference = 1.9 × 10−3 to P = 1.2 × 10−13). These findings provide evidence for multiple loci that modulate body fat distribution independent of overall adiposity and reveal strong gene-by-sex interactions.

The Liminality of Cosmopolitanism from the Global South – Transnational Activists in Costa Rica between Colonial Legacies and Decolonial Attitudes

The Master’s thesis examines whether and how decolonial cosmopolitanism is empirically traceable in the attitudes and practices of Costa Rican activists working in transnational advocacy organizations. Decolonial cosmopolitanism is defined as a form of cosmopolitanism from below that aims to propose ways of imagining – and putting into practice – a truly globe-encompassing civic community not based on relations of domination but on horizontal dialogue. This concept has been developed by and shares its basic presumptions with the theory on coloniality that the modernity/coloniality/decoloniality research group is putting forward. It is analyzed whether and how the workings of coloniality as underlying ontological assumption of decolonial cosmopolitanism and broadly subsumable under the three logics of race, capitalism, and knowledge, are traceable in intermediate postcolonial transnational advocacy in Costa Rica. The method of analysis chosen to approach these questions is content analysis, which is used for the analysis of qualitative semi-structured in-depth interviews with Costa Rican activists working in advocacy organizations with transnational ties. Costa Rica was chosen as it – while unquestionably a Latin American postcolonial country and thus within the geo-political context in which the concept was developed – introduces a complex setting of socio-cultural and political factors that put the explanatory potential of the concept to the test. The research group applies the term ‘coloniality’ to describe how the social, political, economic, and epistemic relations developed during the colonization of the Americas order global relations and sustain Western domination still today through what is called the logic of coloniality. It also takes these processes as point of departure for imagining how counter-hegemonic contestations can be achieved through the linking of local struggles to a global community that is based on pluriversality. The issues that have been chosen as most relevant expressions of the logic of coloniality in the context of Costa Rican transnational advocacy and that are thus empirically scrutinized are national identity as ‘white’ exceptional nation with gender equality (racism), the neoliberalization of advocacy in the Global South (capitalism), and finally Eurocentrism, but also transnational civil society networks as first step in decolonizing civic activism (epistemic domination). The findings of this thesis show that the various ways in which activists adopt practices and outlooks stemming from the center in order to empower themselves and their constituencies, but also how their particular geo-political position affects their work, cannot be reduced to one single logic of coloniality. Nonetheless, the aspects of race, gender, capitalism and epistemic hegemony do undeniably affect activist cosmopolitan attitudes and transnational practices. While the premisses on which the concept of decolonial cosmopolitanism is based suffer from some analytical drawbacks, its importance is seen in its ability to take as point of departure the concrete spaces in which situated social relations develop. It thus allows for perceiving the increasing interconnectedness between different levels of social and political organizing as contributing to cosmopolitan visions combining local situatedness with global community as normative horizon that have not only influenced academic debate, but also political projects.

Trees of Panama and Costa Rica

Book Review

An estimate of the number of tropical tree species

The high species richness of tropical forests has long been recognized, yet there remains substantial uncertainty regarding the actual number of tropical tree species. Using a pantropical tree inventory database from closed canopy forests, consisting of 657,630 trees belonging to 11,371 species, we use a fitted value of Fisher's alpha and an approximate pantropical stem total to estimate the minimum number of tropical forest tree species to fall between similar to 40,000 and similar to 53,000, i.e., at the high end of previous estimates. Contrary to common assumption, the Indo-Pacific region was found to be as species-rich as the Neotropics, with both regions having a minimum of similar to 19,000-25,000 tree species. Continental Africa is relatively depauperate with a minimum of similar to 4,500-6,000 tree species. Very few species are shared among the African, American, and the Indo-Pacific regions. We provide a methodological framework for estimating species richness in trees that may help refine species richness estimates of tree-dependent taxa.

Evaluación de tres sistemas de manejo sobre el crecimiento, estructura productiva y calidad del café (Coffea arabica L.) vr. Costa Rica 95

El café(Coffea arabica L) es un componente importante del paisaje y la economía nacional, los arboles de sombra y el manejo agronómico influyen en la ecofisiología y calidad del café,mejorando la sostenibilidad de las fincas cafetaleras y su viabilidad económica; por tal razón es de suma importancia el estudio de diferentes sistemas de manejo agronómico del cafeto asociados o no con arboles de sombra. El presente estudio se realizó en la Finca San Francisco de Inversiones Generales S. A., ubicada en el km 39 ½ de la carretera San Marcos,Las Esquinas, en el departamento de Carazo, en un periodo comprendido de Agosto del 2002 hasta Junio del 2003.Los suelos pertenecen a la serie San Marcos del orden de los Andisoles, la finca tiene una altitud de 670 msnm, precipitación anual de 1400 mm, con temperatura promedio anual de 24 ºC y humedad relativa de 80 %. El objetivo general del experimento fue evaluar tres sistemas de manejo del café sobre el crecimiento, estructura productiva, acumulación de biomasa y nitrógeno en la raíz,tallo,ramas, hojas y frutos;producción y calidad del café oro de los cafetos. El diseño utilizado fue de bloques completos al azar (BCA), con tres tratamientos que consistieron en: a)Café(Coffea arabica L cv. Costa Rica 95) bajo sombra de madero negro (Gliricidia sepium(Jacquin) Kunth ex Walpers) y fertilización química,b)Café a plena explosión solar y fertilización química y c) Café bajo sombra sin fertilización.En cada parcela se seleccionaron 8 plantas a las cuales se les tomaron los datos de altura,diámetro, proyección de copa,nudos totales en el tallo principal, numero de ramas primarias,secundarias y terciarias tanto totales como productivas de la planta y rendimiento de café oro por parcela.Una muestra por tratamiento de café oro en cada una de las cuatro cosechas fue tomada y enviada a CERCAFENIC de UNICAFE en Managua para determinar los aspectos físicos y organolépticos de cada una de las muestras de café oro.Empleando el método destructivo se midió la biomasa y cantidad de nitrógeno acumulado en la raíz, tallo,ramas, hojas y frutos por planta. A cada una de las variables estudiadas se le realizó un análisis de varianza (ANDEVA) y separación de medias por rangos múltiples de Tukey al 5 % de margen de error.En Agosto del 2002 las plantas de café bajo sombra sin fertilizante,presentaron la mayor biomasa de raíces (Pr = 0.0065) y el mayor contenido de nitrógeno en raíces (Pr = 0.0084), tallo (Pr = 0.0023) y hojas (Pr = 0.0177); el sistema de café a pleno sol y fertilizante obtuvo la mayor biomasa de tallo (Pr = 0.0165), en las variables restantes no se encontró diferencia significativa. Para el mes de Diciembre del 2002 el sistema café a pleno sol y fertilización presentó el mayor número de ramas terciarias totales (Pr =0.0166), en las variables restantes no se encontró diferencia significativa. Los datos del mes de Junio del 2003 presentan al sistema café bajo sombra y fertilizante con la mayor altura (Pr =0.0001) y el mayor número de ramas primarias totales (Pr = 0.0137) y el sistema café a pleno sol y fertilizante con el mayor número de ramas terciarias productivas (Pr = 0.0303)para las demás variables no se encontró diferencia estadística. El sistema de café bajo sombra sin fertilización obtuvo el mejor rendimiento con 438 kg oro ha–1. La calidad del café fue mejor en el sistema café bajo sombra con fertilizante en la cosecha cuatro y cinco presentando una taza OK, tipo GW y calidad como café lavado Nicaragua. Por ser el primer año de estudio, al no presentarse diferencia significativa en la mayoría de las variables se afirma que se inició con una población altamente homogénea lo cual seria de mucha utilidad para los datos que se tomaran en la continuidad de esta investigación.

Efecto de la sombra y fertilización sobre el crecimiento, estructura productiva, rendimiento y calidad del café (Coffea arabica) vr. Costa Rica 95

El ensayo se realizó en la Finca San Francisco, propiedad de Inversiones Generales S. A., ubicada en el km 39 ½ de la carretera San Marcos, Carazo, desde agosto del 2002 hasta junio del 2004, un estudio cuyo objetivo general fue evaluar tres sistemas de manejo del café sobre el crecimiento, estructura productiva, acumulación de biomasa y nitrógeno en la planta; producción y calidad del grano de café. El ensayo se estableció en tres franjas cuyos tratamientos correspondieron a: a) Café bajo sombra de madero negro (Glericidia sepium jacquin kunth ex walpers) y fertilización química, b) Café a plena explosión solar y fertilización química y c) Café bajo sombra sin fertilización. En cada parcela se seleccionaron 48 plantas de las cuales se tomaron 8 plantas en cada una de las 6 fechas para realizar las mediciones correspondientes. Una muestra de café oro por tratamiento de cada una de las cosechas de cada año fue tomada y enviada a laboratorio de CERCAFENIC de UNICAFE en Managua para determinar los aspectos físicos y organolépticos.Empleando el método destructivo se midió la biomasa y cantidad de Nitrógeno acumulado en laraíz, tallo, ramas, hojas y frutos de cada una de las 8 plantas seleccionadas por fecha. Las variables de crecimiento y rendimiento se presentan a través de figuras y la acumulación de biomasa en los diferentes componentes de la planta de café se explica de acuerdo a resultados de la prueba de t-stundent.Para los meses junio 2003, septiembre 2003, diciembre 2003, y junio 2004 el sistema café sombra con fertilizante obtuvo la mayor altura con 166, 170.25, 179.87 y 204 cm respectivamente mientras este mismo tratamiento en el mes de diciembre 2003 obtuvo el mayor diámetro con 4.87 cm, en septiembre y diciembre 2003 obtuvo una mayor proyección de copa con 2.63 y 2.46m, el mayor números de nudos totales lo obtuvo en diciembre 2003 con 42.50 el mayor número de ramas primarias totales se encontraron en diciembre 2003 con 74.87 y las terciarias totales en diciembre 2002 con 11.50, el mayor número de ramas terciarias productivas se encontraron en junio 2003 con 6, estas en el sistema café a pleno sol. En agosto del 2002 las plantas del sistema café sombra sin fertilizante presentaron la mayor biomasa de raíces con 21.75%; mayor contenido de nitrógeno en raíces con 19.73%; en hojas con 52.02% y en tallos con 8.71% el sistema café a pleno sol obtuvo la mayor biomasa del tallo con 18.87%, en septiembre 2003, el sistema a pleno sol obtuvo la mayor biomasa de raíces con 20.49% en cambio para el junio 2004 el mayor contenido de biomasa fue para el tallo en el sistema café sombra sin fertilizante con 27.63% y el mayor cantidad total de nitrógeno fue para las hojas en el sistema café sombra con fertilizante con 38.41%. El sistema de café sombra sin fertilizante obtuvo el mayor rendimiento en el 2002 con 438 kg oro ha–1 y el sistema a pleno sol obtuvo el mayor rendimiento en 2003 con 2952 kg oro ha–1 . La calidad 2003 fue buena en los tres sistemas pero la cosecha seis para los tres tratamientos presento una taza OK, tipo SHG y calidad como café lavado Matagalpa /Jinotega o estrictamente de altura.