Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center

Next-generation sequencing (NGS) technologies have been proposed as a first-line test for the diagnosis of inborn errors of metabolism (IEM), a group of genetically heterogeneous disorders with overlapping or nonspecific phenotypes. Over a 3-year period, we prospectively analyzed 311 pediatric patients with a suspected IEM using four targeted gene panels. The rate of positive diagnosis was 61.86% for intermediary metabolism defects, 32.84% for complex molecular defects, 19% for hypoglycemic/hyperglycemic events, and 17% for mitochondrial diseases, and a conclusive molecular diagnosis was established in 2-4 weeks. Forty-one patients for whom negative results were obtained with the mitochondrial diseases panel underwent subsequent analyses using the NeuroSeq panel, which groups all genes from the individual panels together with genes associated with neurological disorders (1870 genes in total). This achieved a diagnostic rate of 32%. We next evaluated the utility of a tool, Phenomizer, for differential diagnosis, and established a correlation between phenotype and molecular findings in 39.3% of patients. Finally, we evaluated the mutational architecture of the genes analyzed by determining z-scores, loss-of-function observed/expected upper bound fraction (LOEUF), and haploinsufficiency (HI) scores. In summary, targeted gene panels for specific groups of IEMs enabled rapid and effective diagnosis, which is critical for the therapeutic management of IEM patients.info:eu-repo/semantics/publishedVersio

Satisfação materna com o cuidado da enfermeira materno-infantil em Campeche, México

OBJECTIVE: Evaluate and compare maternal-satisfaction (global and areas) with maternal-child nursing care (MSMINC) and to explore the relationship of MSMINC with wait time, length of visit, and maternal age and education. METHODS: Cross-sectional descriptive study comprising 213 mothers. Group 1 (n = 84), mothers of children agedEl objetivo de este estudio fue evaluar y comparar la satisfacción materna (global/áreas) con el cuidado de la enfermera materno infantil (MSMINC) y explorar la relación de MSMINC con el tiempo de espera, duración de la visita, edad y educación materna. Se trata de un estudio descriptivo transversal. Participaron 213 madres. Grupo 1, n = 84 madres de niñosOBJETIVO: Avaliar e comparar a satisfação materna (global e áreas) com o cuidado da enfermeira materno-infantil (SMAEMI) e explorar a relação da SMAEMI com o tempo de espera e duração da visita, idade e educação da mãe. MÉTODOS: ESTUdo descritivo-transversal com a participação de 213 mães. Grupo 1, n = 84 mães de criança

Dynamical Patterns of Cattle Trade Movements

Despite their importance for the spread of zoonotic diseases, our understanding of the dynamical aspects characterizing the movements of farmed animal populations remains limited as these systems are traditionally studied as static objects and through simplified approximations. By leveraging on the network science approach, here we are able for the first time to fully analyze the longitudinal dataset of Italian cattle movements that reports the mobility of individual animals among farms on a daily basis. The complexity and inter-relations between topology, function and dynamical nature of the system are characterized at different spatial and time resolutions, in order to uncover patterns and vulnerabilities fundamental for the definition of targeted prevention and control measures for zoonotic diseases. Results show how the stationarity of statistical distributions coexists with a strong and non-trivial evolutionary dynamics at the node and link levels, on all timescales. Traditional static views of the displacement network hide important patterns of structural changes affecting nodes' centrality and farms' spreading potential, thus limiting the efficiency of interventions based on partial longitudinal information. By fully taking into account the longitudinal dimension, we propose a novel definition of dynamical motifs that is able to uncover the presence of a temporal arrow describing the evolution of the system and the causality patterns of its displacements, shedding light on mechanisms that may play a crucial role in the definition of preventive actions

Dynamical Patterns of Cattle Trade Movements

Despite their importance for the spread of zoonotic diseases, our understanding of the dynamical aspects characterizing the movements of farmed animal populations remains limited as these systems are traditionally studied as static objects and through simplified approximations. By leveraging on the network science approach, here we are able for the first time to fully analyze the longitudinal dataset of Italian cattle movements that reports the mobility of individual animals among farms on a daily basis. The complexity and inter-relations between topology, function and dynamical nature of the system are characterized at different spatial and time resolutions, in order to uncover patterns and vulnerabilities fundamental for the definition of targeted prevention and control measures for zoonotic diseases. Results show how the stationarity of statistical distributions coexists with a strong and non-trivial evolutionary dynamics at the node and link levels, on all timescales. Traditional static views of the displacement network hide important patterns of structural changes affecting nodes' centrality and farms' spreading potential, thus limiting the efficiency of interventions based on partial longitudinal information. By fully taking into account the longitudinal dimension, we propose a novel definition of dynamical motifs that is able to uncover the presence of a temporal arrow describing the evolution of the system and the causality patterns of its displacements, shedding light on mechanisms that may play a crucial role in the definition of preventive actions

[Determinants of the use of different healthcare levels in the General System of Social Security in Health in Colombia and the Unified Health System in Brazil].

OBJECTIVE: To compare the use of different healthcare levels, and its determinants, in two different health systems, the General System of Social Security in Health (GSSSH) and the Unified Health System (UHS) in municipalities in Colombia and Brazil. METHODS: A cross-sectional study was carried out, based on a population survey in two municipalities in Colombia (n=2163) and two in Brazil (n=2155). Outcome variables consisted of the use of primary care services, outpatient secondary care services, and emergency care in the previous 3 months. Explanatory variables were need and predisposing and enabling factors. Bivariate and multivariate logistic regression analyses were performed by healthcare level and country. RESULTS: The determinants of use differed by healthcare level and country: having a chronic disease was associated with a greater use of primary and outpatient secondary care in Colombia, and was also associated with the use of emergency care in Brazil. In Colombia, persons enrolled in the contributory scheme more frequently used the services of the GSSSH than persons enrolled with subsidized contributions in primary and outpatient secondary care and more than persons without insurance in any healthcare level. In Brazil, the low-income population and those without private insurance more frequently used the UHS at any level. In both countries, the use of primary care was increased when persons knew the healthcare center to which they were assigned and if they had a regular source of care. Knowledge of the referral hospital increased the use of outpatient secondary care and emergency care. CONCLUSIONS: In both countries, the influence of the determinants of use differed according to the level of care used, emphasizing the need to analyze healthcare use by disaggregating it by level of care

Effect of phosphorus on the attenuation of lead and chromium

This study analyses the adsorption of Pb(II) and Cr(III) in soils. These metals are commonly found together in nature in urban wastes or industrial spillages, and the theoretical approach of the work was to evaluate the response of the soil to continuous Cr and Pb spillages to soil in terms of several physicochemical parameters. The influence of an anthropogenic input of phosphorus was evaluated. Continuous flow experiments were run in duplicates in acrylic columns (25 cm × 3.2 cm). The influent Cr(III) and Pb(II) solutions of 10 mg l−1 and 25 mg l−1 at pH 5 were pumped upward through the bottom of the columns to ensure saturation flow conditions. Also, successive experiments were run with the above concentrations of Cr(III) and Pb(II) and NaH2PO4, keeping metal to phosphorus ratio of 1:0, 1:0.1 and 1:1. Modelling parameters included Freundlich and Langmuir equations, together with the Two-site adsorption model using CXTFIT code. Results obtained allowed concluding that Pb(II) adsorption presents a certain degree of irreversibility and the continued spillages over soil increment the fraction which is not easily desorbed. Cr(III) desorption was almost complete, evidencing its high mobility in nature. The presence of an anthropogenic input of phosphorus leads to a marked increase of both Pb(II) and Cr(III) adsorption in soils. Z-potential measurements allow to discard the electrostatic attraction of Cr(III) and Pb(II) with the surface charged soil as the dominant process of metal sorption. Instead, CheaqsPro simulation allows to identify PbH2PO4 +, PbHPO4 (aq) and CrHPO4 + as the dominant species which regulate Cr(III) and Pb(II) transport in soils.Fundação para a Ciência e a Tecnologi

Characterizing and modeling citation dynamics

Citation distributions are crucial for the analysis and modeling of the activity of scientists. We investigated bibliometric data of papers published in journals of the American Physical Society, searching for the type of function which best describes the observed citation distributions. We used the goodness of fit with Kolmogorov-Smirnov statistics for three classes of functions: log-normal, simple power law and shifted power law. The shifted power law turns out to be the most reliable hypothesis for all citation networks we derived, which correspond to different time spans. We find that citation dynamics is characterized by bursts, usually occurring within a few years since publication of a paper, and the burst size spans several orders of magnitude. We also investigated the microscopic mechanisms for the evolution of citation networks, by proposing a linear preferential attachment with time dependent initial attractiveness. The model successfully reproduces the empirical citation distributions and accounts for the presence of citation bursts as well.Comment: 8 pages, 5 figure

Can interventions that aim to decrease Lyme disease hazard at non-domestic sites be effective without negatively affecting ecosystem health? A systematic review protocol

Background Lyme disease (LD) is the most commonly reported, broadly distributed vector-borne disease of the northern temperate zone. It is transmitted by ticks and, if untreated, can cause skin, cardiac, nervous system and musculoskeletal disease. The distribution and incidence of LD is increasing across much of North America and Western Europe. Interventions to decrease exposure to LD hazard by encouraging behavioural change have low acceptance in high risk groups, and a safe, effective human LD vaccine is not presently available. As a result, habitat level interventions to decrease LD hazard itself (i.e. levels of infected ticks) have been proposed. However, some interventions may potentially negatively affect ecosystem health, and consequentially be neither desirable, nor politically feasible. This systematic review will catalogue interventions that aim to reduce LD hazard at non-domestic sites, and examine the evidence supporting those which are unlikely to negatively affect ecosystem health. Methods The review will be carried out in two steps. First, a screening and cataloguing stage will be conducted to identify and characterise interventions to decrease LD hazard at non-domestic sites. Secondly, the subset of interventions identified during cataloguing as unlikely to negatively affect ecosystem health will be investigated. In the screening and cataloguing step literature will be collected through database searching using pre-chosen search strings, hand-searching key journals and reviewing the websites of public health bodies. Further references will be identified by contacting stakeholders and researchers. Article screening and assessment of the likely effects of interventions on ecosystem health will be carried out independently by two reviewers. A third reviewer will be consulted if disagreements arise. The cataloguing step results will be presented in tables. Study quality will then be assessed independently by two reviewers, using adapted versions of established tools developed in healthcare research. These results will be presented in a narrative synthesis alongside tables. Though a full meta-analysis is not expected to be possible, if sub-groups of studies are sufficiently similar to compare, a partial meta-analysis will be carried out

Genetic diversity analysis of common beans based on molecular markers

A core collection of the common bean (Phaseolus vulgaris L.), representing genetic diversity in the entire Mexican holding, is kept at the INIFAP (Instituto Nacional de Investigaciones Forestales, Agricolas y Pecuarias, Mexico) Germplasm Bank. After evaluation, the genetic structure of this collection (200 accessions) was compared with that of landraces from the states of Oaxaca, Chiapas and Veracruz (10 genotypes from each), as well as a further 10 cultivars, by means of four amplified fragment length polymorphisms (AFLP) +3/+3 primer combinations and seven simple sequence repeats (SSR) loci, in order to define genetic diversity, variability and mutual relationships. Data underwent cluster (UPGMA) and molecular variance (AMOVA) analyses. AFLP analysis produced 530 bands (88.5% polymorphic) while SSR primers amplified 174 alleles, all polymorphic (8.2 alleles per locus). AFLP indicated that the highest genetic diversity was to be found in ten commercial-seed classes from two major groups of accessions from Central Mexico and Chiapas, which seems to be an important center of diversity in the south. A third group included genotypes from Nueva Granada, Mesoamerica, Jalisco and Durango races. Here, SSR analysis indicated a reduced number of shared haplotypes among accessions, whereas the highest genetic components of AMOVA variation were found within accessions. Genetic diversity observed in the common-bean core collection represents an important sample of the total Phaseolus genetic variability at the main Germplasm Bank of INIFAP. Molecular marker strategies could contribute to a better understanding of the genetic structure of the core collection as well as to its improvement and validation

Effects of biochar amendment on root traits and contaminant availability of maize plants in a copper and arsenic impacted soil

Biochar has been proposed as a tool to enhance phytostabilisation of contaminated soils but little data are available to illustrate the direct effect on roots in contaminated soils. This work aimed to investigate specific root traits and to assess the effect of biochar amendment on contaminant availability. Amendment with two different types of biochar, pine woodchip and olive tree pruning, was assessed in a rhizobox experiment with maize planted in a soil contaminated with significant levels of copper and arsenic. Amendment was found to significantly improve root traits compared to the control soil, particularly root mass density and root length density. Copper uptake to plants and ammonium sulphate extractable copper was significantly less in the biochar amended soils. Arsenic uptake and extractability varied with type of biochar used but was not considered to be the limiting factor affecting root and shoot development. Root establishment in contaminated soils can be enhanced by biochar amendment but choice of biochar is key to maximising soil improvement and controlling contaminant availability