Tuberous sclerosis complex (TSC) and autosomal dominant polycystic kidney disease (ADPKD) are genetically distinct disorders typically associated with pathogenic variants in TSC1 and TSC2 for the former and PKD1 and PKD2 for the latter. TSC2 and PKD1 lie adjacent to each other, and large deletions comprising both genes lead to TSC2/PKD1 contiguous gene deletion syndrome (CGS). In this study, we describe a young female patient exhibiting symptoms of TSC2/PKD1 CGS in which genetic analysis disclosed two noncontiguous partial gene deletions in TSC2 and PKD1 that putatively are responsible for the manifestations of the syndrome.
View Article and Find Full Text PDFThrombotic microangiopathy (TMA), characterized by microangiopathic hemolytic anemia, thrombocytopenia, and multisystem organ dysfunction, is a life-threatening disease. Patients with TMA who do not exhibit a severe ADAMTS-13 deficiency (defined as a disintegrin-like and metalloprotease with thrombospondin type 1 motif no. 13 activity ≥10%: TMA-13n) continue to experience elevated mortality rates.
View Article and Find Full Text PDFIncidence and prevalence of urolithiasis is apparently increasing worldwide, also among children and adolescents. Nevertheless, robust data have only been obtained in a few countries. In Spain, a voluntary Registry for Pediatric Renal Lithiasis has been active since 2015.
View Article and Find Full Text PDFThe deforestation of tropical forests raises environmental concerns worldwide. Removing the pristine forest impacts the soil, consequently affecting the environmental services it provides. Within this context, the main goal of this study was to determine how the conversion of the tropical rainforest to pasture affects soil fertility across an extended range of soil heterogeneity, including different soil types.
View Article and Find Full Text PDFAdvancing extensive cattle production is a major threat to biodiversity conservation in Amazonia. The dominant vegetation cover has a drastic impact on soil microbial communities, affecting their composition, structure, and ecological services. Herein, we explored relationships between land-use, soil types, and forest floor compartments on the prokaryotic metacommunity structuring in Western Amazonia.
View Article and Find Full Text PDFThe COVID-19 health crisis has caused profound social and economic disruptions. Affecting everyone, its impact is not equal. Exacerbating deep social fissures and long-standing systemic inequalities, the pandemic reveals the fragilities and inequities in global higher education.
View Article and Find Full Text PDFMicrocephalic osteodysplastic primordial dwarfism type II (MOPDII) is a genetic syndrome. Its main characteristics are bony dysplasia, prenatal and postnatal growth deficiencies, microcephaly, and cerebrovascular disease. Several other features have been added recently.
View Article and Find Full Text PDFThrombotic microangiopathy (TMA) has different etiological causes, and not all of them are well understood. In atypical hemolytic uremic syndrome (aHUS), the TMA is caused by the complement dysregulation associated with pathogenic mutations in complement components and its regulators. Here, we describe a pediatric patient with aHUS in whom the relatively benign course of the disease confused the initial diagnosis.
View Article and Find Full Text PDFPediatr Nephrol
August 2020
Background: There is little information about Coronavirus Disease 2019 (COVID-19) in children with underlying chronic renal pathologies.
Cases Report: From March until April 15, 2020, 16 children with chronic renal pathologies were diagnosed with COVID-19 in Spain. Of these, 6 had end-stage kidney disease (ESKD) (3 transplant recipients and 3 on chronic hemodialysis).
Introduction: The analysis of 24-h urine is the gold standard to diagnose metabolic abnormalities in the stone-forming patient. However, urinary composition changes throughout the day and analyzing the whole 24-h urine may mask peaks of increased risk of crystallization.
Objective: To examine variations of stone-promoting and stone-inhibiting factors in urine using split 24-h samples from healthy and stone-forming children.
Three billion people (>40% of the world's population) lack access to clean cooking solutions, including 2.5 billion people that still rely on the traditional use of biomass for cooking. In urban contexts, the rate of access to clean cooking solutions is normally higher than in rural contexts due to greater availability of these solutions.
View Article and Find Full Text PDFBackground: Thrombotic microangiopathy (TMA) is an important complication associated with several diseases that are rare and life-threatening. TMA is common to thrombotic thrombocytopenic purpura (TTP) and hemolytic uremic syndrome (HUS). TTP is defined by a severe deficiency of ADAMTS13, and early treatment is associated with good prognosis.
View Article and Find Full Text PDFJ Expo Sci Environ Epidemiol
March 2019
Air pollution is one of the greatest challenges cities are facing today and improving air quality is a pressing need to reduce negative health impacts. In order to efficiently evaluate which are the most appropriate policies to reduce the impact of urban pollution sources (such as road traffic), it is essential to conduct rigorous population exposure assessments. One of the main limitations associated with those studies is the lack of information about population distribution in the city along the day (population dynamics).
View Article and Find Full Text PDFBlack carbon is the second largest contributor to climate change and also poses risks to human health. Despite the need for black carbon (BC) emissions estimates from residential biomass burning for cooking, quantitative data are still scarce. This scarcity is mainly due to the scattered location of the stoves, as well as relatively costly and complex analytical methods available.
View Article and Find Full Text PDFAim Of The Study: To review our management and outcomes of nephrectomies performed in patients with non-functioning kidneys.
Methods: Retrospective analysis of the patients who underwent nephrectomy surgery in our hospital between 2010 and 2014. Data was collected from the patient charts paying special attention to the clinical resolution of the symptoms that motivated surgery.
The distribution of pollutants is spatially heterogeneous within urban streets making difficult to build a realistic concentration map. In this paper, a methodology based on computational fluid dynamic modeling with Reynolds-averaged Navier-Stokes approach is used to compute maps of concentration for a period of several weeks. The methodology is evaluated by comparing simulation results against experimental data from two different campaigns where a large number of passive samplers deployed in an area with heavy vehicular traffic in Madrid (Spain).
View Article and Find Full Text PDFThis paper presents the evaluation of emissions from vehicle operations in a domain of 300m×300m covering a complex urban roundabout with high traffic density in Madrid. Micro-level simulation was successfully applied to estimate the emissions on a scale of meters. Two programs were used: i) VISSIM to simulate the traffic on the square and to compute velocity-time profiles; and ii) VERSIT+micro through ENVIVER that uses VISSIM outputs to compute the related emissions at vehicle level.
View Article and Find Full Text PDFThis paper analyses the effects of policy making for air pollution abatement in Spain between 2000 and 2020 under an integrated assessment approach with the AERIS model for number of pollutants (NOx/NO2, PM10/PM2.5, O3, SO2, NH3 and VOC). The analysis of the effects of air pollution focused on different aspects: compliance with the European limit values of Directive 2008/50/EC for NO2 and PM10 for the Spanish air quality management areas; the evaluation of impacts caused by the deposition of atmospheric sulphur and nitrogen on ecosystems; the exceedance of critical levels of NO2 and SO2 in forest areas; the analysis of O3-induced crop damage for grapes, maize, potato, rice, tobacco, tomato, watermelon and wheat; health impacts caused by human exposure to O3 and PM2.
View Article and Find Full Text PDFUnlabelled: Air pollution abatement policies must be based on quantitative information on current and future emissions of pollutants. As emission projections uncertainties are inevitable and traditional statistical treatments of uncertainty are highly time/resources consuming, a simplified methodology for nonstatistical uncertainty estimation based on sensitivity analysis is presented in this work. The methodology was applied to the "with measures" scenario for Spain, concretely over the 12 highest emitting sectors regarding greenhouse gas and air pollutants emissions.
View Article and Find Full Text PDFBackground: Improving knowledge about normal urine composition in children is important for early prevention of lithiasis. We describe urinary excretion values of calcium (Ca), magnesium (Mg), phosphate (P), citrate (Cit), uric acid (Ur), and oxalate (Ox) in healthy children with and without a family history of lithiasis, using a 12-h urine collection protocol.
Methods: Urine samples were obtained from 184 children (5-12 years): a spot sample collected in the afternoon, and a 12-h overnight sample.
Background: In recent years, Spain has implemented a number of air quality control measures that are expected to lead to a future reduction in fine particle concentrations and an ensuing positive impact on public health.
Objectives: We aimed to assess the impact on mortality attributable to a reduction in fine particle levels in Spain in 2014 in relation to the estimated level for 2007.
Methods: To estimate exposure, we constructed fine particle distribution models for Spain for 2007 (reference scenario) and 2014 (projected scenario) with a spatial resolution of 16×16km(2).
© LitMetric 2025. All rights reserved.