16q24.1 microdeletion in a premature newborn: Usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn.

OBJECTIVE:: Report of a 16q24.1 deletion in a premature newborn, demonstrating the usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn and multiple congenital malformations. DESIGN:: Descriptive case report. SETTING:: Genetic department and neonatal intensive care unit of a tertiary care children's hospital. INTERVENTIONS:: None. PATIENT:: We report the case of a preterm male infant, born at 26 wks of gestation. A cardiac malformation and bilateral hydronephrosis were diagnosed at 19 wks of gestation. Karyotype analysis was normal, and a 22q11.2 microdeletion was excluded by fluorescence in situ hybridization analysis. A cesarean section was performed due to fetal distress. The patient developed persistent pulmonary hypertension unresponsive to mechanical ventilation and nitric oxide treatment and expired at 16 hrs of life. MEASUREMENTS AND MAIN RESULTS:: An autopsy revealed partial atrioventricular canal malformation and showed bilateral dilation of the renal pelvocaliceal system with bilateral ureteral stenosis and annular pancreas. Array-based comparative genomic hybridization analysis (Agilent oligoNT 44K, Agilent Technologies, Santa Clara, CA) showed an interstitial microdeletion encompassing the forkhead box gene cluster in 16q24.1. Review of the pulmonary microscopic examination showed the characteristic features of alveolar capillary dysplasia with misalignment of pulmonary veins. Some features were less prominent due to the gestational age. CONCLUSIONS:: Our review of the literature shows that alveolar capillary dysplasia with misalignment of pulmonary veins is rare but probably underreported. Prematurity is not a usual presentation, and histologic features are difficult to interpret. In our case, array-based comparative genomic hybridization revealed a 16q24.1 deletion, leading to the final diagnosis of alveolar capillary dysplasia with misalignment of pulmonary veins. It emphasizes the usefulness of array-based comparative genomic hybridization analysis as a diagnostic tool with implications for both prognosis and management decisions in newborns with refractory persistent pulmonary hypertension and multiple congenital malformations.

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair

Recurrent submicroscopic genomic copy number changes are the result of nonallelic homologous recombination (NAHR). Nonrecurrent aberrations, however, can result from different nonexclusive recombination-repair mechanisms. We previously described small microduplications at Xq28 containing MECP2 in four male patients with a severe neurological phenotype. Here, we report on the fine-mapping and breakpoint analysis of 16 unique microduplications. The size of the overlapping copy number changes varies between 0.3 and 2.3 Mb, and FISH analysis on three patients demonstrated a tandem orientation. Although eight of the 32 breakpoint regions coincide with low-copy repeats, none of the duplications are the result of NAHR. Bioinformatics analysis of the breakpoint regions demonstrated a 2.5-fold higher frequency of Alu interspersed repeats as compared with control regions, as well as a very high GC content (53%). Unexpectedly, we obtained the junction in only one patient by long-range PCR, which revealed nonhomologous end joining as the mechanism. Breakpoint analysis in two other patients by inverse PCR and subsequent array comparative genomic hybridization analysis demonstrated the presence of a second duplicated region more telomeric at Xq28, of which one copy was inserted in between the duplicated MECP2 regions. These data suggest a two-step mechanism in which part of Xq28 is first inserted near the MECP2 locus, followed by breakage-induced replication with strand invasion of the normal sister chromatid. Our results indicate that the mechanism by which copy number changes occur in regions with a complex genomic architecture can yield complex rearrangements.

Contribuição da Geodésia ao monitoramento costeiro do Litoral Setentrional do Rio Grande do Norte, área de influência da indústria petrolífera

The general objective of this thesis has been seasonal monitoring (quarterly time scale) of coastal and estuarine areas of a section of the Northern Coast of Rio Grande do Norte, Brazil, environmentally sensitive and with intense sediment erosion in the oil activities to underpin the implementation of projects for containment of erosion and mitigate the impacts of coastal dynamics. In order to achieve the general objective, the work was done systematically in three stages which consisted the specific objectives. The first stage was the implementation of geodetic reference infrastructure for carrying out the geodetic survey of the study area. This process included the implementation of RGLS (Northern Coast of the RN GPS Network), consisting of stations with geodetic coordinates and orthometric heights of precision; positioning of Benchmarks and evaluation of the gravimetric geoid available, for use in GPS altimetry of precision; and development of software for GPS altimetry of precision. The second stage was the development and improvement of methodologies for collection, processing, representation, integration and analysis of CoastLine (CL) and Digital Elevation Models (DEM) obtained by geodetic positioning techniques. As part of this stage have been made since, the choice of equipment and positioning methods to be used, depending on the required precision and structure implanted, and the definition of the LC indicator and of the geodesic references best suited, to coastal monitoring of precision. The third step was the seasonal geodesic monitoring of the study area. It was defined the execution times of the geodetic surveys by analyzing the pattern of sediment dynamics of the study area; the performing of surveys in order to calculate and locate areas and volumes of erosion and accretion (sandy and volumetric sedimentary balance) occurred on CL and on the beaches and islands surfaces throughout the year, and study of correlations between the measured variations (in area and volume) between each survey and the action of the coastal dynamic agents. The results allowed an integrated study of spatial and temporal interrelationships of the causes and consequences of intensive coastal processes operating in the area, especially to the measurement of variability of erosion, transport, balance and supply sedimentary over the annual cycle of construction and destruction of beaches. In the analysis of the results, it was possible to identify the causes and consequences of severe coastal erosion occurred on beaches exposed, to analyze the recovery of beaches and the accretion occurring in tidal inlets and estuaries. From the optics of seasonal variations in the CL, human interventions to erosion contention have been proposed with the aim of restoring the previous situation of the beaches in the process of erosion.

Monitoramento ambiental da costa do Rio Grande do Norte com base em sensoriamento remoto e geodésia de precisão

This paper presents models of parameters of Sea Surface Layer (SSL), such as chlorophyll-a, sea surface temperature (SST), Primary Productivity (PP) and Total Suspended Matter (TSM) for the region adjacent to the continental shelf of Rio Grande do Norte (RN), Brazil. Concentrations of these parameters measured in situ were compared in time quasi-synchronous with images AQUA-MODIS between the years 2003 to 2011. Determination coefficients between samples in situ and bands reflectance sensor AQUA-MODIS were representative. From that, concentrations of SSL parameters were acquired for the continental shelf of the RN (eastern and northern) analyzing the geographic distribution of variation of these parameters between the years 2009-2012. Geographical and seasonal variations mainly influenced by global climate phenomena such as El Niño and La Niña, were found through the analysis of AQUA-MODIS images by Principal Components Analysis (PCA). Images show qualitatively the variance and availability of TSM in the regions, as well as their relationship with coastal erosion hotspots, monitored along the coast of the RN. In one of the areas identified as being of limited availability of TSM, we developed a methodology for assessment and evaluation of Digital Elevation Models (DEM) of beach surfaces (emerged and submerged sections) from the integration of topographic and bathymetric data measured in situ and accurately georeferenced compatible to studies of geomorphology and coastal dynamics of short duration. The methodology consisted of surveys with GNSS positioning operated in cinematic relative mode involved in topographic and bathymetric executed in relation to the stations of the geodetic network of the study area, which provided geodetic link to the Brazilian Geodetic System (GBS), univocal , fixed, and relatively stable over time. In this study Ponta Negra Beach, Natal / RN, was identified as a region with low variance and availability of MPS in the region off, as characterized by intense human occupation and intense coastal erosion in recent decades, which presents potential of the proposed methodology for accuracy and productivity, and the progress achieved in relation to the classical methods of surveying beach profiles

An assessment of fiscal and regulatory barriers to deployment of energy efficiency and renewable energy technologies in Guyana

Includes bibliography.

An assessment of fiscal and regulatory barriers to deployment of energy efficiency and renewable energy technologies in Belize

Belize is currently faced with several critical challenges associated with the production, distribution and use of energy. Despite an abundance of renewable energy resources, the country remains disproportionately dependent on imported fossil fuels, which exposes it to volatile and rising oil prices, limits economic development, and retards its ability to make the investments that are necessary for adapting to climate change, which pose a particularly acute threat to the small island states and low-lying coastal nations of the Caribbean. This transition from energy consumption and supply patterns that are based on imported fossil fuels and electricity towards a more sustainable energy economy that is based on environmentally benign, indigenous renewable energy technologies and more efficient use of energy requires concerted action as the country is already challenged by limited fiscal space which reduces its ability to provide some fiscal incentives, which have been proven to be effective tools for the promotion of sustainable energy markets in a number of countries. This report identifies the fiscal and regulatory barriers to implementation of energy efficiency measures and renewable energy technologies in Belize. Data and information were derived from stakeholder consultations conducted within the country. The major result of the assessment is that the transition of policies and plans into tangible action needs to be increased. In this regard, it is necessary to articulate sub-policies of the National Energy Policy to amend the Public Utilities Commission Act, to develop a grid interconnection policy, to establish minimum energy performance standards for buildings and equipment and to develop a public procurement policy. Finally, decisions on renewable energy and energy efficiency-related incentives from the Government formally requires decision-makers to solve what may be extremely complex optimization problems in order to obtain the lowest-cost provision of energy services to society, thereby weighing the cost of revenue losses with the benefits of fuel and infrastructure expansion savings. The establishment of a management system that is efficient, flexible, and transparent, which will facilitate the implementation of the strategic objectives and outputs in the time available, with the financial resources allocated is recommended. Support is required for additional institutional and capacity strengthening.

An assessment of fiscal and regulatory barriers to deployment of energy efficiency and renewable energy technologies in Curaçao

The current energy systems within Curaçao depend primarily on high cost, imported fossil fuels, and typically constitute power sectors that are characterized by small, inefficient generation plants which result in high energy prices. As a consequence of its dependence on external fuel supplies, Curaçao is extremely vulnerable to international oil price shocks, which can impact on economic planning and foreign direct investment within their industrial sectors. The ability of the successive governments to source capital for economic stimulation and social investment is therefore significantly challenging. Additionally, there is over-dependence on two of the most climate-sensitive economic sectors, namely the tourism and fisheries sectors, but the vulnerabilities of the country to the effects of climate change make adaptation difficult and costly. It is within this context that this report focuses on identification of the fiscal and regulatory barriers to implementation of energy efficiency and renewable energy technologies in Curaçao with a view of making recommendations for removal of these barriers. Consultations with key Government officials, the private sector as well as civil society were conducted to obtain information and data on the energy sector in the country. Desktop research was also conducted to supplement the information gathered from the consultations. The major result of the assessment is that Curaçao is at an early stage in the definition of its energy sector. Despite some infrastructural legacies of the pre-independence era, as well as a number of recent developments including the modernization and expansion of its windfarms and completion of a modern Electricity Policy, there are still a number of important institutional and policy gaps within the energy sector in Curaçao. The most significant deficiency is the absence of a ministry or Government agency with portfolio responsibility for the energy sector as a whole; this has: limited the degree to which the activities of energy sector stakeholders are coordinated and retarded the development and implementation of a comprehensive national energy policy. The absence of an energy policy, which provides the framework for energy planning, increases investor risk. Also, the lack of political continuity that has emanated from the frequent changes in Government administrations is a concern among stakeholders and has served to reduce investor confidence in particular, and market confidence in general.

On the synthesis by integer programming of optimal NOR gate networks for four variable switching functions /

"Supported in part by the National Science Foundation under grant no. NSF GJ-503."

Exposición histórica del monstruo que nació el día 30 de mayo próximo anterior en la calle de Sopranis de esta ciuadad, formada por una comisión de la Sociedad Médico-Quirúrgica de Cádiz, con arreglo á las observaciones hechas durante su vida, y al resultado de la inspección del cadaver : presentada y leida á la misma Sociedad en sesión extraordinaria que celebró el día 8 del corriente.

Mode of access: Internet.

Historia de la epidemia padecida en Cádiz el año de 1810, y providencias tomadas para su extinción por las Juntas de Sanidad suprema del Reyno y su superior de esta ciudad : ideas generales de la fiebre amarilla que tienden á fixar su verdadero carácter á fin de establecer en todo el Reyno reglas generales y uniformes de precaución : bosquejo de una Constitución General de Sanidad con los Reglamentos indispensables para el resguardo de mar, y práctica de diligencias en los puertos, y para la conservación de la salud de los pueblos, dividido todo en cuatro partes /

Mode of access: Internet.

Mémoire qui a remporté le prix au jugement de l'Académie de Dijon le 18 août 1776, sur la question proposée en ces termes : déterminer quelles sont les maladies dans lesquelles la médecine agissante est préférable a l'expectante, et celle ce a l'agissante ; et a quels signes le médecin reconnoit qu'il doit agir, ou rester dans l'inaction, en attendant le moment favorable pour placer les remedes? /

Mode of access: Internet.

Adiciones al Reglamento de Infantería que el Duque del Infantado propone y sujeta al dictamen de los Señores Oficiales de esta arma.

Mode of access: Internet.

Abrégé de l'histoire grecque et romaine / traduit du latin du Velleius Paterculus ...

Contiene con portada propia : Abrégé de L' Histoire grecque et romaine. Le modéle inimitable des abrégés en las últimas 12 páginas.

Les vies des peres des deserts d'Orient : avec leur doctrine spirituelle et leur discipline monastique /

Mode of access: Internet.