X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation

Background: Aproximately 5–10% of cases of mental retardation in males are due to copy number variations (CNV) on the X chromosome. Novel technologies, such as array comparative genomic hybridization (aCGH), may help to uncover cryptic rearrangements in X-linked mental retardation (XLMR) patients. We have constructed an X-chromosome tiling path array using bacterial artificial chromosomes (BACs) and validated it using samples with cytogenetically defined copy number changes. We have studied 54 patients with idiopathic mental retardation and 20 controls subjects. Results: Known genomic aberrations were reliably detected on the array and eight novel submicroscopic imbalances, likely causative for the mental retardation (MR) phenotype, were detected. Putatively pathogenic rearrangements included three deletions and five duplications (ranging between 82 kb to one Mb), all but two affecting genes previously known to be responsible for XLMR. Additionally, we describe different CNV regions with significant different frequencies in XLMR and control subjects (44% vs. 20%). Conclusion:This tiling path array of the human X chromosome has proven successful for the detection and characterization of known rearrangements and novel CNVs in XLMR patients.

Current Account imbalances, thriftiness and the real exchange rate in a growing economy

This paper analyses the theoretical relevance of the dynamical aspects of growth on the discussion about the observed positive correlation between per capita real income and real exchange rates. With this purpose, we develop a simple exogenous growth model where the internal, external and intertemporal equilibrium conditions of a typical macroeconomic model are imposed; this last one through the inclusion of a balanced growth path for the foreign assets accumulation. The main result under this consideration is that the relationship defended by the Balassa-Samuelson hypothesis is no more so straightforward. In our particular approach, the mentioned bilateral relationship depends on a parameter measuring thriftiness in the economy. Therefore, the probability of ending up with a positive relationship between growth and real exchange rates -as the classical economic theory predicts- will be higher when the economy is able to maintain a minimum saving ratio. Moreover, given that our model considers a simple Keynesian consumption function, some explosive paths can also be possible.

The ‘Dragon’ and the ‘Elephant’ and Global Imbalances

Global financial imbalances receive a great deal of attention in relation to the emerging economies China and India. This chapter analyzes this relation, but argues first that they are actually re-balancing the existing structural inequality in the world economy, in which for so long only the Western economies and Japan dominated economic growth and international trade, moving towards a more multi-polar world economy. China in particular, with its rapid export-led growth, has indeed been part and parcel of the emerging financial imbalances, feeding the ‘over-consumption’ in the US and using its accumulating international reserves in buying US-treasury bonds. Finance therefore is moving to the economy that ‘least needs it’. This imbalance can only be redressed if the US (and some of the other OECD countries) start saving more and consuming less (and become more competitive), with China further stimulating domestic demand (which it already did in response to the crisis). China and to a lesser extend India, as emerging large economies and a more important roles in global markets, also contribute to new imbalances, such as the influence of the insatiable appetite for resources (carbon-hydrates, minerals and bio-mass) of these relatively energy-inefficient economies, while at the same time attracting an increasing share of FDI towards them. The chapter finally raises the issue that these three mentioned imbalances make it more difficult for developing countries (except for those who are resource-rich) to get access to the necessary development finance.

For public service or money: Understanding geographical imbalances in the health workforce in Ethiopia

Geographical imbalances in the health workforce have been a consistent feature of nearly all health systems, and especially in developing countries. In this paper we investigate the willingness to work in a rural area among final year nursing and medical students in Ethiopia. Analyzing data obtained from contingent valuation questions, we find that household consumption and the student s motivation to help the poor, which is our proxy for intrinsic motivation, are the main determinants of willingness to work in a rural area. We investigate whoe is willing to help the poor and find that women are significantly more likely than men. Other variables, including a rich set of psychosocial characteristics, are not significant. Finally, we carry out some simulation on how much it would cost to make the entire cohort of starting nurses and doctors chooseto take up a rural post.

Selecting the most relevant variables for anaerobic digestion imbalances : Two case studies

In this study, a wrapper approach was applied to objectively select the most important variables related to two different anaerobic digestion imbalances, acidogenic states and foaming. This feature selection method, implemented in artificial neural networks (ANN), was performed using input and output data from a fully instrumented pilot plant (1 m 3 upflow fixed bed digester). Results for acidogenic states showed that pH, volatile fatty acids, and inflow rate were the most relevant variables. Results for foaming showed that inflow rate and total organic carbon were among the relevant variables, both of which were related to the feed loading of the digester. Because there is not a complete agreement on the causes of foaming, these results highlight the role of digester feeding patterns in the development of foaming

The Politics of Intergovernmental Fiscal Relations in Argentina

The search for political determinants of intergovernmental fiscal relations has shaped much of the recent literature on the economic viability of federalism. This study assesses the explanatory power of two competing views about intergovernmental transfers; one emphasizing the traditional neoclassical approach to federal-subnational fiscal relations and the other suggesting that transfers are contingent on the political fortunes and current political vulnerability of each level of government. The author tests these models using data from Argentina, a federation exhibiting one of the most decentralised fiscal systems in the world and severe imbalances in the territorial distribution of legislative and economic resources. It is shown that overrespresented provinces ruled by governors who belong to opposition parties can bring into play their political overrepresentation to attract shares of federal transfers beyond social welfare criteria and to shield themselves from unwanted reforms to increase fiscal co-responsibilty. This finding suggests that decision makers in federal countries must pay close heed to the need to synchronize institutional reforms and fiscal adjustment.

Una explicación del conflicto social sobre energía eólica en la comarca de la Terra Alta en Cataluña

El estudio investiga las razones que explican un conflicto sobre la instalación de parques eólicos en Terra Alta, una comarca rural de Cataluña. Identificamos tres razones principales. Primero, y de acuerdo con el marco conceptual de ecología política, el conflicto eólico forma parte de un conflicto más generalizado sobre la ‘macro-concentración’ de instalaciones energéticas en el sur de Cataluña que generan energía y beneficios económicos principalmente para el centro del desarrollo económico catalán. Segundo, el impacto paisajístico de los proyectos eólicos choca con iniciativas locales que impulsan el paisaje como un activo valioso capaz de sustentar la vida en la comarca. Por último, desequilibrios de poder en el sistema formal de toma de decisiones sobre parques eólicos impiden la inclusión de valores locales como criterios en el proceso de toma de decisiones y eso también genera conflicto. Para un desarrollo sostenible de energía eólica, la importancia del potencial eólico como criterio principal de localización debe ser reevaluada, y la negociación de la distribución de beneficios debe hacerse en la forma más abierta posible.

Passive modernization? the new human development index and its components in Italy’s regions (1871-2007)

The article presents and discusses estimates of social and economic indicators for Italy’s regions in benchmark years roughly from Unification to the present day: life expectancy, education, GDP per capita at purchasing power parity, and the new Human Development Index (HDI). A broad interpretative hypothesis, based on the distinction between passive and active modernization, is proposed to account for the evolution of regional imbalances over the long-run. In the lack of active modernization, Southern Italy converged thanks to passive modernization, i.e., State intervention: however, this was more effective in life expectancy, less successful in education, expensive and as a whole ineffective in GDP. As a consequence, convergence in the HDI occurred from the late XIX century to the 1970s, but came to a sudden halt in the last decades of the XX century.

Migration across Spanish provinces: Evidence from the social security records (1978-1992)

This paper uses Social Security records to study internal migrationin Spain. This is the first paper that uses this data source, whichhas some advantages with respect to existing data sources: it includesonly job-seeking migrants and it allows to identify temporary migration. Within the framework of an extended gravity model, we estimate a Generalized Negative Binomial regression on gross migration flows between provinces. We quantify the effect of local labor market imbalances on workers' mobility and discuss the equilibrating role of internal migration in Spain. Our main results show that the effect of employment opportunities have changed after 1984; migrants seem to be more responsive to economic conditions but, consistently with previous studies for the Spanish labor market, the migration response to wage differentials is wrongly signed. Our analysis also confirms the larger internal mobility of highly qualified workers.

Array-CGH in patients with a clinical diagnosis of Kabuki syndrome: identification of two cases with terminal 2q37 deletion and no other recurrent rearrangement

Background: Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by specific facial features, mild to moderate mental retardation, postnatal growth delay, skeletal abnormalities, and unusual dermatoglyphic patterns with prominent fingertip pads. A 3.5 Mb duplication at 8p23.1-p22 was once reported as a specific alteration in KS but has not been confirmed in other patients. The molecular basis of KS remains unknown. Methods: We have studied 16 Spanish patients with a clinical diagnosis of KS or KS-like to search for genomic imbalances using genome-wide array technologies. All putative rearrangements were confirmed by FISH, microsatellite markers and/or MLPA assays, which also determined whether the imbalance was de novo or inherited. Results: No duplication at 8p23.1-p22 was observed in our patients. We detected complex rearrangements involving 2q in two patients with Kabuki-like features: 1) a de novo inverted duplication of 11 Mb with a 4.5 Mb terminal deletion, and 2) a de novo 7.2 Mb-terminal deletion in a patient with an additional de novo 0.5 Mb interstitial deletion in 16p. Additional copy number variations (CNV), either inherited or reported in normal controls, were identified and interpreted as polymorphic variants. No specific CNV was significantly increased in the KS group. Conclusion: Our results further confirmed that genomic duplications of 8p23 region are not a common cause of KS and failed to detect other recurrent rearrangement causing this disorder. The detection of two patients with 2q37 deletions suggests that there is a phenotypic overlap between the two conditions, and screening this region in the Kabuki-like patients should be considered.

Patterns of convergence and divergence in the euro area

We study the extent of macroeconomic convergence/divergence among euro area countries. Our analysis focuses on four variables (unemployment, inflation, relative prices and the current account), and seeks to uncover the role played by monetary union as a convergence factor by using non-euro developed economies and the pre-EMU period as control samples.

Geology of the Cerro-Quema Au-Cu deposit (Azuero Peninsula, Panama)

The Cerro Quema district, located on the Azuero Peninsula, Panama, is part of a large regional hydrothermal system controlled by regional faults striking broadly E-W, developed within the Río Quema Formation. This formation is composed of volcanic, sedimentary and volcano-sedimentary rocks indicating a submarine depositional environment, corresponding to the fore-arc basin of a CretaceousPaleogene volcanic arc. The structures observed in the area and their tectono-stratigraphic relationship with the surrounding formations suggest a compressive and/or transpressive tectonic regime, at least during Late CretaceousOligocene times. The igneous rocks of the Río Quema Formation plot within the calc-alkaline field with trace and rare earth element (REE) patterns of volcanic arc affinity. This volcanic arc developed on the Caribbean large igneous province during subduction of the Farallon Plate. Mineralization consists of disseminations of pyrite and enargite as well as a stockwork of pyrite and barite with minor sphalerite, galena and chalcopyrite, hosted by a subaqueous dacitic lava dome of the Río Quema Formation. Gold is present as submicroscopic grains and associated with pyrite as invisible gold. A hydrothermal alteration pattern with a core of advanced argillic alteration (vuggy silica with alunite, dickite, pyrite and enargite) and an outer zone of argillic alteration (kaolinite, smectite and illite) has been observed. Supergene oxidation overprinted the hydrothermal alteration resulting in a thick cap of residual silica and iron oxides. The ore minerals, the alteration pattern and the tectono-volcanic environment of Cerro Quema are consistent with a high sulfidation epithermal system developed in the Azuero peninsula during pre-Oligocene times.

Geology of the Cerro-Quema Au-Cu deposit (Azuero Peninsula, Panama)

The Cerro Quema district, located on the Azuero Peninsula, Panama, is part of a large regional hydrothermal system controlled by regional faults striking broadly E-W, developed within the Río Quema Formation. This formation is composed of volcanic, sedimentary and volcano-sedimentary rocks indicating a submarine depositional environment, corresponding to the fore-arc basin of a Cretaceous-Paleogene volcanic arc. The structures observed in the area and their tectono-stratigraphic relationship with the surrounding formations suggest a compressive and/or transpressive tectonic regime, at least during Late Cretaceous-Oligocene times. The igneous rocks of the Río Quema Formation plot within the calc-alkaline field with trace and rare earth element (REE) patterns of volcanic arc affinity. This volcanic arc developed on the Caribbean large igneous province during subduction of the Farallon Plate. Mineralization consists of disseminations of pyrite and enargite as well as a stockwork of pyrite and barite with minor sphalerite, galena and chalcopyrite, hosted by a subaqueous dacitic lava dome of the Río Quema Formation. Gold is present as submicroscopic grains and associated with pyrite as invisible gold. A hydrothermal alteration pattern with a core of advanced argillic alteration (vuggy silica with alunite, dickite, pyrite and enargite) and an outer zone of argillic alteration (kaolinite, smectite and illite) has been observed. Supergene oxidation overprinted the hydrothermal alteration resulting in a thick cap of residual silica and iron oxides. The ore minerals, the alteration pattern and the tectono-volcanic environment of Cerro Quema are consistent with a high sulfidation epithermal system developed in the Azuero peninsula during pre-Oligocene times.

Geography of talent and regional differences in Spain

Tentative empirical evidence suggests that the agglomeration of talent contributes to regional development. However, given that talented people are not evenly distributed across regions, this paper seeks to determine how the concentration of talent affects patterns of regional development. Here, we empirically evaluate the effects of the distribution of talent on regional differences by means of a detailed analysis of the 17 Autonomous Communities of Spain between 1996 and 2004. We hypothesise that regions specialising in strategic sectors that are creative and which can be assumed to enjoy rapid growth in productivity will experience faster rates of development and, in turn, that this concentration of talent will have a positive impact on the region’s economic performance. Thus, we believe that this mechanism can explain the marked regional imbalances in Spain. Our findings confirm that regional differences, measured in terms of GDP per capita and by, - industrial and service- oriented production, are influenced by the Communities’ talent bases as determined by, educational attainment and employment in assumed to be strategic for regional development, inasmuch as these sectors provide economic specialization.

La regió de Girona: un model territorial en transformació, amb potencial i fràgil

During the most recent years the Regió de Girona has clearly transformed its territorial model, superimposing an emerging clearly hierarchic structure to a polycentric one. This way, Girona and its urban area has gained a diversified centrality. This transformation, though, needs a clearly defined project that, adapted to the current dynamism, makes explicit and supports or corrects the resultant territorial model in order to avoid infrastructural shortages, territorial imbalances, resource wasting and negative impact on the environment