bluuebunny/crossref_metadata_2025_split huggingface dataset:
The clinical heterogeneity of coenzyme Q10 deficiency results from genotypic differences in the Coq9 gene
Authors: Luna‐Sánchez Marta , Díaz‐Casado Elena , Barca Emanuele , Tejada Miguel Ángel , Montilla‐García Ángeles , Cobos Enrique Javier , Escames Germaine , Acuña‐Castroviejo Dario , Quinzii Catarina M , López Luis Carlos 
Published: March 2015

AbstractPrimary coenzyme Q10 (CoQ10) deficiency is due to mutations in genes involved in CoQ biosynthesis. The disease has been associated with five major phenotypes, but a genotype–phenotype correlation is unclear. Here, we compare two mouse models with a genetic modification in Coq9 gene (Coq9Q95X and Coq9R239X), and their responses to 2,4‐dihydroxybenzoic acid (2,4‐diHB). Coq9R239X mice manifest severe widespread CoQ deficiency associated with fatal encephalomyopathy and respond to 2,4‐diHB increasing CoQ levels. In contrast, Coq9Q95X mice exhibit mild CoQ deficiency manifesting with reduction in CI+III activity and mitochondrial respiration in skeletal muscle, and late‐onset mild mitochondrial myopathy, which does not respond to 2,4‐diHB. We show that these differences are due to the levels of COQ biosynthetic proteins, suggesting that the presence of a truncated version of COQ9 protein in Coq9R239X mice destabilizes the CoQ multiprotein complex. Our study points out the importance of the multiprotein complex for CoQ biosynthesis in mammals, which may provide new insights to understand the genotype–phenotype heterogeneity associated with human CoQ deficiency and may have a potential impact on the treatment of this mitochondrial disorder.
Vitamin B-12, Folic Acid, and Growth in 6- to 30-Month-Old Children: A Randomized Controlled Trial
Authors: Strand Tor A. , Taneja Sunita , Kumar Tivendra , Manger Mari S. , Refsum Helga , Yajnik Chittaranjan S. , Bhandari Nita 
Published: March 2015

BACKGROUND:Folate and vitamin B-12 are important for growth. Many children in low- and middle-income countries have inadequate intakes of these nutrients.METHODS:We undertook a randomized, placebo controlled double-blind trial in 1000 North Indian children, 6 to 35 months of age, providing twice the recommended daily allowance of folic acid and/or vitamin B-12, or placebo, daily for 6 months. By using a factorial design, we allocated children in a 1:1:1:1 ratio in blocks of 16. We measured the effect of giving vitamin B-12, folic acid, or the combination of both on linear and ponderal growth. We also identified predictors for growth in multiple linear regression models and effect modifiers for the effect of folic acid or vitamin B-12 supplementation on growth.RESULTS:The overall effect of either of the vitamins was significant only for weight; children who received vitamin B-12 increased their mean weight-for-age z scores by 0.07 (95% confidence interval: 0.01 to 0.13). Weight-for-age z scores and height-for-age z scores increased significantly after vitamin B-12 supplementation in wasted, underweight, and stunted children. These subgrouping variables significantly modified the effect of vitamin B-12 on growth. Vitamin B-12 status at baseline predicted linear and ponderal growth in children not receiving vitamin B-12 supplements but not in those who did (P-interaction &lt; .001).CONCLUSIONS:We provide evidence that poor vitamin B-12 status contributes to poor growth. We recommend studies with larger doses and longer follow-up to confirm our findings.
Safety and Efficacy of Pimecrolimus in Atopic Dermatitis: A 5-Year Randomized Trial
Authors: Sigurgeirsson Bardur , Boznanski Andrzej , Todd Gail , Vertruyen André , Schuttelaar Marie-Louise A. , Zhu Xuejun , Schauer Uwe , Qaqundah Paul , Poulin Yves , Kristjansson Sigurdur , von Berg Andrea , Nieto Antonio , Boguniewicz Mark , Paller Amy S. , Dakovic Rada , Ring Johannes , Luger Thomas 
Published: March 2015

BACKGROUND AND OBJECTIVES:Atopic dermatitis (AD) primarily affects infants and young children. Although topical corticosteroids (TCSs) are often prescribed, noncorticosteroid treatments are needed because compliance with TCSs is poor due to concerns about their side effects. In this longest and largest intervention study ever conducted in infants with mild-to-moderate AD, pimecrolimus 1% cream (PIM) was compared with TCSs.Methods:A total of 2418 infants were enrolled in this 5-year open-label study. Infants were randomized to PIM (n = 1205; with short-term TCSs for disease flares) or TCSs (n = 1213). The primary objective was to compare safety; the secondary objective was to document PIM’s long-term efficacy. Treatment success was defined as an Investigator’s Global Assessment score of 0 (clear) or 1 (almost clear).Results:Both PIM and TCSs had a rapid onset of action with &gt;50% of patients achieving treatment success by week 3. After 5 years, &gt;85% and 95% of patients in each group achieved overall and facial treatment success, respectively. The PIM group required substantially fewer steroid days than the TCS group (7 vs 178). The profile and frequency of adverse events was similar in the 2 groups; in both groups, there was no evidence for impairment of humoral or cellular immunity.Conclusions:Long-term management of mild-to-moderate AD in infants with PIM or TCSs was safe without any effect on the immune system. PIM was steroid-sparing. The data suggest PIM had similar efficacy to TCS and support the use of PIM as a first-line treatment of mild-to-moderate AD in infants and children.
Mortality After Burn Injury in Children: A 33-year Population-Based Study
Authors: Duke Janine M. , Rea Suzanne , Boyd James H. , Randall Sean M. , Wood Fiona M. 
Published: March 2015

OBJECTIVE:
To assess the impact of burn injury sustained during childhood on long-term mortality and to quantify any increased risk of death attributable to burn injury.

METHODS:
A population-based cohort study of children younger than 15 years hospitalized for burn injury in Western Australia (1980–2012) and a matched noninjured comparison group. Deidentified extraction of linked hospital morbidity and death records for the period 1980–2012 were provided by the Western Australian Data Linkage System. An inception cohort (1980–2012) of burn cases younger than 15 years of age when hospitalized for a first burn injury (n = 10 426) and a frequency matched noninjured comparison cohort (n = 40 818) were identified. Survival analysis was conducted by using the Kaplan-Meier method and Cox proportional hazards regression. Mortality rate ratios and attributable risk percent adjusted for sociodemographic and preexisting heath factors were generated.

RESULTS:
The median follow-up time for the pediatric burn cohort was 18.1 years after discharge. The adjusted all-cause mortality rate ratios for burn injury was 1.6 (95% confidence interval: 1.3–2.0); children with burn injury had a 1.6 times greater rate of mortality than those with no injury. The index burn injury was estimated to account for 38% (attributable risk percent) of all recorded deaths in the burn injury cohort during the study period.

CONCLUSIONS:
Burn injury sustained by children is associated with an increased risk of long-term all-cause mortality. Estimates of the total mortality burden based on in-hospital deaths alone underestimates the true burden from burn injury.
Executive Function in Adolescents Born &lt;1000 g or &lt;28 Weeks: A Prospective Cohort Study
Authors: Burnett Alice C. , Scratch Shannon E. , Lee Katherine J. , Cheong Jeanie , Searle Karissa , Hutchinson Esther , De Luca Cinzia , Davey Mary-Ann , Roberts Gehan , Doyle Lex W. , Anderson Peter J. 
Published: March 2015

BACKGROUND AND OBJECTIVES:Extremely preterm (EP; &lt;28 weeks) birth and extremely low birth weight (ELBW; &lt;1000 g) are risk factors for poor cognitive outcomes, including in executive function (EF; higher-order cognitive skills necessary for goal-directed, adaptive functioning and important for academic and behavioral-emotional outcomes). We aimed to (1) extend the limited data on EF in EP/ELBW survivors in adolescence compared with normal birth weight controls, and (2) determine changes in EF between ages 8 and 17 years in both groups.METHODS:Two hundred twenty-eight EP/ELBW and 166 control adolescents (mean age, 17 years) from a prospective geographical cohort were assessed with multiple EF tasks, and parent- and self-ratings of behavioral EF. The Rey Complex Figure and Behavior Rating Inventory of Executive Function parent report were also administered at age 8 years, enabling examination of change in scores between childhood and adolescence.RESULTS:EP/ELBW adolescents performed more poorly than controls in verbal processing speed, attentional control, cognitive flexibility, and goal-setting (effect sizes, −0.7 to −0.2 SD), but not psychomotor reaction time. Group differences were of similar magnitude across tasks. From childhood to late adolescence, EP/ELBW children improved their accuracy of the Rey Complex Figure copy more than controls. According to parents, executive behaviors were largely stable over time in both groups.CONCLUSIONS:Adolescents born EP/ELBW have poorer EF skills across multiple domains than controls. From childhood to late adolescence, different aspects of EF improved, but others did not, underscoring the need for multidomain, longitudinal assessments in this high-risk population.
DIMENSIONES DEL EXTRACTIVISMO MINERO EN COLOMBIA. ANÁLISIS DE LAS RACIONALIDADES DE GOBIERNO DURANTE LA ÚLTIMA DÉCADA
Authors: Vélez Torres Irene 
Published: March 2015

Este artículo analiza el boom minero desde el año 2000 en Colombia; en primer lugar, a partir del diseño institucional y fiscal que se ha legislado durante la última década; en segundo lugar, en relación con las dimensiones políticas y territoriales de la securitización militar de los recursos mineros; y, finalmente, en términos de los conflictos socio-ambientales y la organización social que ha entrado a disputar el control jurídico y militar (legal e ilegal) de las geografías extractivas. De esta forma, el artículo contribuye al debate sobre el extractivismo analizando los mecanismos económicos y coercitivos que han jugado en la ampliación de la frontera minera en Colombia.
Analysis of aeromagnetic data for interpretation of seismicity at Fayoum-Cairo area, Egypt
Authors: Khalil Ahmed Bakr , Toni Mostafa , Hassoup Awad , Mansour Khamis 
Published: March 2015

<p>An aeromagnetic reconnaissance study is presented to delineate the subsurface structure and tectonic setting at the Fayoum-Cairo district, which experienced a damaging earthquake on October 12, 1992 of magnitude (M = 5.7). Analysis of aeromagnetic and seismicity data demonstrate three significant tectonic faults with trending to the NE-SW, NW-SE and E-W. The basement is uplifted in the northern and central parts with a depth of 1.3 km, and deepening in the southern part with a depth of 2.5 km. This is a seismically active zone and historically has experienced damaging earthquakes. In 1847, a damaging earthquake with maximum epicentral intensity (Modified Mercalli Intensity (MMI) = VII) was located there. On the eastern side, earthquake sources are well recognized at different locations. These sources created events of moderate size magnitude M &lt; 5. The focal mechanisms of the major events from these sources are generally strike-slip with normal component. The focal mechanism of the earthquake on October 12, 1992 is normal fault type with strike trends in the NW-SE direction. These fault plane solutions are consistent with the tectonic trends derived from the aeromagnetic data mentioned above and suggest that the new tectonics of northeast Africa is predominant. </p><p> </p><p><strong>Resumen</strong></p><p> </p><p>Este estudio presenta una exploración aeromagnética para delimitar la estructura subsuperficial y el marco tectónico del distrito de Fayoum-Cairo, que sufrió un terremoto el 12 de octubre de 1992 de magnitud M=5.7. Los análisis de datos sismicidad y aeromagnéticos señalan tres fallas tectónicas significativas con tendencias NE-SO, NO-SE y E-O. El subsuelo se elevó en el norte y en el centro a una profundidad de 1,3 kilómetros, y se hundió en el sur con una profundidad de 2,5 kilómetros. Esta es una zona sísmicamente activa que en su historia ha tenido terremotos dañinos. En 1847 tuvo lugar un terremoto con intensidad epicentral máxima (escala sismológica de Mercalli) de VII. En el lado este se estudiaron las fuentes de terremotos en diferentes partes. Estas fuentes crearon eventos de magnitud moderada M&lt;5. Los mecanismos focales de los eventos principales en estas fuentes son generalmente fallas de desgarre con componente normal. El mecanismo focal del terremoto del 12 de octubre de 1992 es una falla tipo normal con fuertes movimientos NO-SE. Las soluciones de estas fallas son consistentes con las tendencias tectónicas de los datos aeromagnéticos antes mencionados y sugieren que la nueva tectónica del noreste de África es predominante.</p>
Uncertainty in rainfall input data in a conceptual water balance model: effects on outputs and implications for predictability
Authors: Muñoz Enrique , Tume Pedro , Ortíz Gabriel 
Published: March 2015

<p>As hydrological models become more prevalent in water resources planning and management, increasing levels of detail and precision are needed. Currently, reliable models that simulate the hydrological behavior of a basin are indispensable; however, it is also necessary to know the limits of the predictability and reliability of the model outputs. The present study evaluates the influence of uncertainty in the main input variable of the model, rainfall, on the output uncertainty of a hydrological model. Using concepts of identifiability and sensitivity, the uncertainty in the model structure and parameters was estimated. Then, the output uncertainty caused by uncertainties in i) the rainfall amounts and ii) the periods of the rainfall was determined. The main conclusion is that uncertainty in rainfall estimation during rainy periods produces greater output uncertainty. However, in non-rainy periods, the output uncertainty is not very sensitive to the uncertainty in rainfall. Finally, uncertainties in rainfall during the basin filling and emptying periods (Apr. – Jun. and Sep. – Nov., respectively) alter the uncertainty in subsequent periods. Therefore, uncertainties in these periods could result in limited ranges of model predictability.</p><p> </p><p><strong>Resumen</strong></p><p>Los modelos hidrológicos se han vuelto cada vez más necesarios en la planificación y gestión de recursos hídricos, donde un aumento en los niveles de detalle y precisión es necesario. Actualmente disponer de modelos para simular el comportamiento hidrológico de una cuenca resulta indispensable, sin embargo, también es necesario conocer los límites de predictibilidad y de confiabilidad de las salidas de un modelo. En este estudio se evalúan la influencia de la incertidumbre en la principal entrada de un modelo, la precipitación, sobre la incertidumbre de las salidas de un modelo hidrológico. Utilizando conceptos de identificabilidad y sensibilidad se estima la incertidumbre de los parámetros y estructura de un modelo. Luego, la incertidumbre en las salidas causadas por incertidumbre en i) los montos de precipitación, ii) los períodos de precipitación fue calculada. Como conclusiones se obtuvo que la incertidumbre en la estimación de la precipitación en períodos de lluvia produce mayor incertidumbre sobre las salidas. En períodos no lluviosos, la incertidumbre de las salidas es poco sensible a incertidumbre sobre las precipitaciones. Finalmente, incertidumbres en periodos de llenado y vaciado (Abril-Junio y Septiembre-Noviembre respectivamente) afectan la incertidumbre en las salidas en los períodos subsecuentes. Por lo tanto incertidumbres en aquellos períodos pueden resultar en rangos limitados de predictibilidad de un modelo.</p>
Hydrocarbon Production Scenarios in Colombia. Review of Field Sizes, Hydrocarbon Reserves and Expectations of Conventional and Unconventional Resources.
Authors: Beltrán Rivas Julián Daniel , Vargas Jiménez Carlos Alberto 
Published: March 2015

<div class="page" title="Page 1"><div class="section"><div class="layoutArea"><div class="column"><p><span>The present research work examines three aspects of great importance for the future supply of oil and gas in Colombia. 1) The geographic and stratigraphic distribution of hydrocarbon resources for use in estimations of the contribution </span><span>of different field sizes to the total supply of oil and gas in Colombia. 2) The current state of the hydrocarbon reserves in Colombia and factors that influence their increase or decrease; statistical tools are used to calculate the volume of hydrocarbons that may be found in the future. 3) The observed decline of hydrocarbon production in Colombia, </span><span>which is used to estimate the amount of resources that may be extracted in the future once peak production has been </span><span>reached. Based on these three aspects, we constructed different scenarios to forecast the potential production of oil and gas in Colombia. In addition, we calculated the amount of hydrocarbon reserves in these scenarios. </span></p><p><span><br /></span></p><p><strong>Resumen</strong></p><div class="page" title="Page 1"><div class="section"><div class="layoutArea"><div class="column"><p><span>El presente trabajo resume tres aspectos considerados de gran importancia para el futuro suministro de petróleo y </span><span>gas en Colombia. Estos son: 1) La distribución ¿geográfica y estratigráfica? de los recursos hidrocarburiferos como </span><span>herramienta para conocer la contribución de los diferentes tamaños de campo a la producción total de hidrocarburos </span><span>en Colombia; 2) El estado actual de las reservas de hidrocarburos en Colombia y los factores que inciden en el incremento o disminución de las reservas, que son dos asuntos temas que inciden en el futuro suministro de estos recursos. Al respecto, por medio de herramientas estadísticas se calcula el volumen de hidrocarburo que puede ser encontrado en el futuro. 3) Las tasas de declinación en la producción de hidrocarburos observados observadas en Colombia, permiten modelar los recursos que pueden ser recuperados en el futuro una vez alcanzados los picos de producción. Bajo esta hipótesis, se construyen diferentes escenarios que resumen pronostican la posible producción de petróleo y gas en Colombia para los próximos años, además se calculan las reservas de hidrocarburos para los </span><span>mismos escenarios. </span></p></div></div></div></div><p><strong><br /></strong></p></div></div></div></div>
Sand dunes of the Gaza Strip (southwestern Palestine): morphology, textural characteristics and associated environmental impacts
Authors: Ubeid Khalid Fathi , Albatta Alhasan S. 
Published: March 2015

<p>Sand dunes are wide spread in the Gaza Strip and are present in its northern, central and southern regions. Thirty sand samples were collected at seven locations along the middle region of the Strip. The coordinates for each sampling site were positioned using GPS and processed with ArcGIS software.</p><p>Mechanical and chemical properties were examined to determine the textural characteristics and carbonate contents of the dune sands. The mean grain size is fine to medium, and the sands range from moderate- to well-sorting. The skewness is fine to very fine, and the kurtosis ranges from mesokurtic to very leptokurtic. Additionally, the results show that the carbonate content ranges from 1.5% to 5%.</p><p>The high permeability, good porosity, and low carbonate content of the sand dunes in the Gaza Strip have led to more groundwater pollution via leachates percolating from the solid waste landfills and basins from wastewater treatments constructed above the sand dunes. Sand quarries have also changed the natural landscape of the Gaza Strip. These quarries were excavated randomly, used for a short period and then disused. This random and unregulated excavation has led to the destruction of natural habitats for flora and fauna.</p><p> </p><p><strong>Resumen</strong></p><p>Las dunas de arena se extienden ampliamente en la Franja de Gaza y hacen presencia en las regiones del norte, centro y sur. Para este trabajo se recolectaron treinta muestras de arena en siete puntos a lo largo de la región media de la Franja. Las coordenadas de cada muestra se marcaron con el GPS y se procesaron con el programa ArcGIS. Se examinaron las propiedades químicas y mecánicas para determinar las características de textura y los contenidos de carbonato de las dunas de arena. El tamaño del grano está entre fino y medio y las arenas oscilan entre moderadas y bien definidas. La asimetría estadística va desde fina hasta muy fina y la variedad de la curtosis se ubica entre mesocúrtica y muy leptocúrtica. Adicionalmente, los resultados muestran que los rangos de contenido de carbonato están entre 1,5 % y 5 %. La alta permeabilidad, la buena porosidad y el bajo contenido de carbonato en las dunas de arena de la Franja de Gaza han permitido una mayor contaminación a través de lixiviados que se filtran desde vertederos de desechos sólidos y desde estaciones de tratamiento de aguas residuales construidas sobre las dunas de arena. Las canteras de arena, además, han cambiado el paisaje natural de la Franja de Gaza. Estas canteras fueron excavadas de manera aleatoria, utilizadas por un tiempo corto y luego cayeron en desuso. Estas excavaciones aleatorias y sin regulación han llevado a la destrucción de hábitats naturales de flora y fauna.</p>
Breast Cancer With Brain Metastases: Clinicopathologic Features, Survival, and Paired Biomarker Analysis
Authors: Shen Qi , Sahin Aysegul A. , Hess Kenneth R. , Suki Dima , Aldape Kenneth D. , Sawaya Raymond , Ibrahim Nuhad K. 
Published: March 2015

Abstract

Background.
The aim of this study was to describe clinicopathologic features of patients with breast cancer brain metastasis (BCBM); to evaluate survival after diagnosis of BCBM; and to compare estrogen receptor (ER), progesterone receptor (PR), and HER2 expression in the paired primary and brain tumors.

Materials and Methods.
We identified 140 consecutive patients who underwent craniotomy for BCBM (either for diagnostic purpose or with therapeutic intent) at the University of Texas MD Anderson Cancer Center between 2002 and 2009.

Results.
Most patients had invasive ductal histology (91%), grade 3 tumors (67%), and positive axillary lymph node (64%). Of the tumors, 56% were ER-negative, 62% were PR-negative, 44% were HER2-positive, and 28% were triple negative (TN). Brain metastasis (BM) was solitary in 51% of patients. Median interval from breast cancer diagnosis to BM was 46 months; median survival after BM was 14.1 months. In the univariate analysis, younger age, solitary brain metastasis, and ER or PR positivity in the breast tumors were associated with longer survival. There was a statistical trend toward increased survival in HER2-positive patients compared with HER2-negative patients (18 vs. 11 months). In the multivariate analysis, predictors for longer survival included younger age, solitary brain lesion, and HER2 positivity in the breast cancer. Biomarkers were evaluated in paired primary and brain tumors in 35 patients for ER status, 34 for PR status, and 36 for HER2 status. Discordant rates were 28% for ER, 20% for PR, and 3% for HER2.

Conclusion.
Compared with unselected breast cancer patients at the same institution, patients with breast cancer who had brain metastases had a higher proportion of hormone receptor-negative, HER2-positive, and TN tumors. Younger age, solitary brain lesion, and HER2 expression were independent predictors of better survival in patients with BCBM. HER2 status was highly concordant between the paired primary and brain tumors, whereas changes of ER and PR status occurred in a substantial proportion of the patients. These findings are important for making effective treatment decisions for patients with BCBM.