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Phenolic compounds from a hydroalcoholic extract of wet olive pomace were purified and concentrated by an integrated membrane process in organic media. First, UF010104 (Solsep BV) and UP005 (Microdyn Nadir) membranes were tested to be implemented in the ultrafiltration stage, with the aim of purifying the extract and obtaining a permeate enriched in phenolic compounds. Despite the high flux observed with the UF010104 membrane (20.4 ± 0.7 L·h-1·m-2, at 2 bar), the UP005 membrane was selected because of a more suitable selectivity. Even though some secoiridoids were rejected, the permeate stream obtained with this membrane contained high concentrations of valuable simple phenols and phenolic acids, whereas sugars and macromolecules were retained. Then, the ultrafiltration permeate was subjected to a nanofiltration step employing an NF270 membrane (DuPont) for a further purification and fractionation of the phenolic compounds. The permeate flux was 50.2 ± 0.2 L·h-1·m-2, working at 15 bar. Hydroxytyrosol and some phenolic acids (such as vanillic acid, caffeic acid, and ferulic acid) were recovered in the permeate, which was later concentrated by reverse osmosis employing an NF90 membrane. The permeate flux obtained with this membrane was 15.3 ± 0.3 L·h-1·m-2. The concentrated phenolic mixture that was obtained may have important applications as a powerful antioxidant and for the prevention of diabetes and neurodegenerative diseases.
Assuntos
Membranas Artificiais , Olea , Fenóis , Ultrafiltração , Olea/química , Ultrafiltração/métodos , Fenóis/isolamento & purificação , Fenóis/química , Fenóis/análise , Osmose , Solventes/química , Extratos Vegetais/químicaRESUMO
BACKGROUND: Ascending aortic aneurysms are rare pathologies in childhood, especially in the absence of previous diseases such as Marfan syndrome. OBJECTIVE: Present the possibility of successful endovascular management of large vessel aneurysms, using stents and microcatheters with embolization of the aneurysm sac. METHOD: We present the case of a previously healthy ten-year-old patient, in whom a pseudoaneurysm was documented between the origin of the left common carotid artery and left subclavian artery, successfully managed endovascularly, initially with a stent covering the neck of the aneurysm to remodel it and later with embolization of the aneurysm sac using a microcatheter. RESULTS: Aneurysms of large vessels, such common carotid artery and subclavian artery, are at risk of rupture with devastating complications; endovascular management is considered a minimally invasive management option, with favorable results. CONCLUSION: The endovascular management of large vessel aneurysms using stents and microcatheters with embolization of the aneurysmal sac is a novel management option that achieves successful results.
ANTECEDENTES: Los aneurismas de la aorta ascendente son patologías poco frecuentes en la infancia, sobre todo en ausencia de enfermedades previas como el síndrome de Marfan. OBJETIVO: Dar a conocer la posibilidad del manejo endovascular exitoso de los aneurismas de grandes vasos, usando stent y micro catéter con embolización del saco aneurismático. MÉTODO: Presentamos el caso de una paciente de 10 años y 2 meses, previamente sana, en quien se documentó un pseudoaneurisma entre el origen de la arteria carótida común izquierda y la arteria subclavia izquierda, que logró manejarse de forma endovascular, inicialmente con un stent cubriendo el cuello del aneurisma con el fin de remodelarlo y posteriormente por medio de microcatéter se realizó embolización del saco del aneurisma con coils, con resultado exitoso. RESULTADOS: Los aneurismas de los grandes vasos, como la arteria carótida común y la arteria subclavia, tienen riesgo de ruptura con complicaciones devastadoras; el manejo endovascular se plantea como una opción poco invasiva de manejo, con resultados favorables. CONCLUSIÓN: El manejo de aneurismas de grandes vasos, por vía endovascular usando stent y microcatéter con embolización del saco aneurismático, es una opción novedosa de manejo que logra resultados exitosos.
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Aneurisma do Arco Aórtico , Falso Aneurisma , Aneurisma da Aorta Torácica , Aneurisma Aórtico , Procedimentos Endovasculares , Humanos , Criança , Aneurisma Aórtico/cirurgia , Stents , Falso Aneurisma/diagnóstico por imagem , Falso Aneurisma/cirurgia , Resultado do Tratamento , Aneurisma da Aorta Torácica/cirurgiaRESUMO
Resumen Antecedentes: Los aneurismas de la aorta ascendente son patologías poco frecuentes en la infancia, sobre todo en ausencia de enfermedades previas como el síndrome de Marfan. Objetivo: Dar a conocer la posibilidad del manejo endovascular exitoso de los aneurismas de grandes vasos, usando stent y micro catéter con embolización del saco aneurismático. Método: Presentamos el caso de una paciente de 10 años y 2 meses, previamente sana, en quien se documentó un pseudoaneurisma entre el origen de la arteria carótida común izquierda y la arteria subclavia izquierda, que logró manejarse de forma endovascular, inicialmente con un stent cubriendo el cuello del aneurisma con el fin de remodelarlo y posteriormente por medio de microcatéter se realizó embolización del saco del aneurisma con coils, con resultado exitoso. Resultados: Los aneurismas de los grandes vasos, como la arteria carótida común y la arteria subclavia, tienen riesgo de ruptura con complicaciones devastadoras; el manejo endovascular se plantea como una opción poco invasiva de manejo, con resultados favorables. Conclusión: El manejo de aneurismas de grandes vasos, por vía endovascular usando stent y microcatéter con embolización del saco aneurismático, es una opción novedosa de manejo que logra resultados exitosos.
Abstract Background: Ascending aortic aneurysms are rare pathologies in childhood, especially in the absence of previous diseases such as Marfan syndrome. Objective: Present the possibility of successful endovascular management of large vessel aneurysms, using stents and microcatheters with embolization of the aneurysm sac. Method: We present the case of a previously healthy ten-year-old patient, in whom a pseudoaneurysm was documented between the origin of the left common carotid artery and left subclavian artery, successfully managed endovascularly, initially with a stent covering the neck of the aneurysm to remodel it and later with embolization of the aneurysm sac using a microcatheter. Results: Aneurysms of large vessels, such common carotid artery and subclavian artery, are at risk of rupture with devastating complications; endovascular management is considered a minimally invasive management option, with favorable results. Conclusion: The endovascular management of large vessel aneurysms using stents and microcatheters with embolization of the aneurysmal sac is a novel management option that achieves successful results.
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BACKGROUND: Aneurysms and diverticula of the left ventricle are rare entities in childhood, with a prevalence of less than 0.1%. Described since 1886, as a severe and potentially fatal disease if not corrected, mainly due to the presence of associated anomalies and the risk of rupture. OBJETIVE: Present other management options for ventricular diverticula, different from surgical options, using alternative materials that are not used very often in daily practice. METHOD: A detailed description of a case successfully managed with these new treatment modalities. RESULTS: Endovascular management of the left ventricular diverticulum, diagnosed prenatally in the patient presented, was successful after initial failure with surgical management. CONCLUSIONS: Endovascular management of ventricular diverticula, using alternative materials to those commonly used, is an attractive option with satisfactory results in these patients.
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Procedimentos Endovasculares , Aneurisma Cardíaco , Ventrículos do Coração , Humanos , Aneurisma Cardíaco/cirurgia , Aneurisma Cardíaco/diagnóstico por imagem , Ventrículos do Coração/anormalidades , Ventrículos do Coração/cirurgia , Procedimentos Endovasculares/métodos , Masculino , Resultado do Tratamento , Feminino , Divertículo/cirurgia , Divertículo/complicaçõesRESUMO
The textile industry generates large volumes of water characterized mainly by an intense color coming from dyes that are difficult to process due to their synthetic base and the presence of aromatic components. Due to the stricter regulation on the discharge of these effluents, in order to reduce dye waste before discharge into natural channels, alternatives are being sought to manage this wastewater. In this work, the concentration of dyes in simulated wastewater from the textile industry was studied by forward osmosis (with a cellulose triacetate CTA membrane), with the aim of concentrating the dye for its future recovery and reincorporation into the production process. Two dyes of different nature were evaluated to study the efficiency of the proposed process, using NaCl and reverse osmosis brine from a model seawater desalination solution as extraction solutions. It was observed that dye type (reactive or direct) and their charge influence the color rejection with the forward osmosis membrane used. It was able to concentrate the dyes in the feed solution up to approximately 55% with the reverse osmosis brine from the model seawater desalination solution. Finally, the results demonstrate that the FO process is a promising option for concentrating dyes present in wastewater from the textile industry in order to reuse them in the dyeing process.
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The purpose of the study is to test whether NT-proBNP serves as a screening tool for low-risk patent ductus arteriosus and safely avoids routine early echocardiography. This is a prospective observational study in preterm infants ≤32 weeks of gestational age. Infants with ≥5100 pg/ml (positive screening) at 48-72 hours of life received comprehensive echocardiography and were treated according to shunt severity. Infants with NT-proBNP below 5100 pg/ml (negative screening) were managed expectantly. The main outcome was need for ductus treatment within the first 7 days of life. One hundred twenty-five infants were included; 82 had a negative NT-proBNP screening and 43 had a positive NT-proBNP screening. No infant (0%) with a negative screening was treated for ductus while 26 (60.4%) with a positive screening were treated (p < 0.001). NT-proBNP avoided a 65.6% of routine echocardiograms. NT-proBNP had an excellent performance to predict PDA treatment (AUC = 0.967).Conclusion: NT-proBNP at 48-72 hours of life has an excellent performance to detect low risk and avoids unnecessary echocardiograms. This may contribute to optimize PDA management in terms of resource utilization.
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Permeabilidade do Canal Arterial , Recém-Nascido Prematuro , Lactente , Recém-Nascido , Humanos , Seguimentos , Biomarcadores , Peptídeo Natriurético Encefálico , Permeabilidade do Canal Arterial/diagnóstico por imagemRESUMO
Currently, understanding the dynamics of the interaction between the agents in a process is one of the most important factors regarding its operation and design. Membrane processes for industrial wastewater management are not strangers to this topic. One such example is the concentration of compounds with high added value, such as the phenolic compounds present in olive mill wastewater (OMW). This process is a viable option, thanks to the forward osmosis (FO) process, osmotically driven by a saline stream. In this context, the transport of the solute and the solvent through the FO membranes, although essential to the process, remains problematic. This paper presents a study to predict, by means of a theoretical model, the water flux for two membranes (a cellulose triacetate flat sheet and a polyamide hollow fiber with integrated aquaporin proteins) with different characteristics using a sodium chloride solution as the draw solution (DS). The novelty of this model is the consideration of the contribution of organic compounds (in addition to the inorganic salts) to the osmotic pressure in the feed side. Moreover, the geometry of the modules and the characteristics of the membranes were also considered. The model was developed with the ability to run under different conditions, with or without tyrosol (the compound chosen as representative of OMW phenolic compounds) in the feed solution (FS), and was fitted and evaluated using experimental data. The results presented a variability in the model prediction, which was a function of both the membrane used and the FS and DS, with a greater influence of tyrosol observed on the permeate flux in the flat cellulose triacetate membrane.
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In several low-income countries, the transport of sputa could take up to one week to reach the laboratories, resulting in increased contamination rates and a loss of growth. The aim of this study was to evaluate the effect of the OMNIgene-SPUTUM in preserving Mycobacterium tuberculosis on sputum samples simulating three hypothetical scenarios for conservation and/or decontamination: (1) sputum was mixed with OMN and conserved at room temperature for five days and then processed for culture (OMN); (2) sputum cultures followed the routine standing operating procedure at day 0 (STD); and (3) sputum samples were kept at room temperature for five days and mixed with the standard decontamination reagent (SDT5) and then processed for culture. The positivity rate based on smear microscopy was 36.4%, 29.1%, and 27.3% for STD, STD5, and OMN, respectively. The proportion of positive results by liquid culture (MGIT) was 39.1% (43/110) for STD, 26.4% (29/110) for STD5, and 20.0% for OMN (22/110). The overall concordance of liquid culture results was 51.8% (57/110): 37.3% (41/110) for negative results, 11.8% (13/110) for MTBC growth, and 2.7% (3/110) for contaminated results. The OMN arm showed better performance in solid culture than in liquid culture, with a notable reduction in contaminated results.
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Alaria esculenta is a brown seaweed farmed in many European countries for its biomass rich in useful bio compounds. This study aimed to identify the optimal growing season to maximise biomass production and quality. The seeded longlines of the brown seaweed were deployed in the southwest of Ireland in October and November 2019 and samples of the biomass were harvested in different dates, between March and June 2020. Biomass gain and composition, phenolic and flavonoid content (TPC and TFC) and biological activities (antioxidant and anti-hypertensive activities) of seaweed extracts prepared with Alcalase were evaluated. The biomass production was significantly higher for the line deployed in October (>20 kg·m-1). In May and June, an increasing amount of epiphytes was observed on the surface of A. esculenta. The protein content of A. esculenta varied between 11.2 and 11.76% and fat content was relatively low (1.8-2.3%). Regarding the fatty acids profile, A. esculenta was rich in polyunsaturated fatty acids (PUFA), especially in eicosapentaenoic acid (EPA). The samples analysed were very rich in Na, K, Mg, Fe, Mn, Cr and Ni. The content of Cd, Pb Hg was relatively low and below the maximum levels allowed. The highest TPC and TFC were obtained in extracts prepared with A. esculenta collected in March and levels of these compounds decreased with time. In general, the highest radical scavenging activities (ABTS and DPPH), as well as chelating activities (Fe2+ and Cu2+) were observed in early spring. Extracts from A. esculenta collected in March and April presented higher ACE inhibitory activity. The extracts from seaweeds harvested in March exhibited higher biological activity. It was concluded that an earlier deployment allows for maximising growth and harvest of biomass earlier when its quality is at the highest levels. The study also confirms the high content of useful bio compounds that can be extracted from A. esculenta and used in the nutraceutical and pharmaceutical industry.
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Phaeophyceae , Alga Marinha , Antioxidantes/química , Phaeophyceae/química , Alga Marinha/química , Fenóis/farmacologia , Fenóis/análise , Extratos Vegetais/químicaRESUMO
Despite the environmental concerns raised every year by the generation of high volumes of wet olive pomace, it contains valuable phenolic compounds that are essential for the valorization of this by-product. In this work, an integrated process to recover phenolic compounds from wet olive pomace is proposed. It consists of ultrasound-assisted solid-liquid extraction, followed by ultrafiltration and nanofiltration. Several commercial membranes were studied at different operational conditions. The ultrafiltration stage allowed the purification of biophenols, which were obtained in the permeate stream. Regarding organic matter, satisfactory rejection values were obtained with both commercial UH030 and UP005 membranes (Microdyn Nadir), but the latter provided more efficient purification and higher values of permeate flux, above 18 L·h-1·m-2 at 2.5 bar and 1.5 m·s-1. Later, this permeate stream was concentrated by means of a nanofiltration process, obtaining polyphenol rejection values that surpassed 85% with the commercial NF270 membrane (DuPont), then achieving the concentration of the previously purified polyphenols.
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Resumen La enfermedad ósea metabólica del prematuro es una patología multifactorial que representa una importante causa de morbilidad, cuya prevalencia ha aumentado. Su diagnóstico requiere criterios bioquímicos, radiológicos y, en etapas avanzadas, clínicos; por lo cual, muchos autores recomiendan estrategias de tamizaje y prevención. El objetivo del presente artículo es realizar una revisión de los aspectos más relevantes respecto a la enfermedad ósea metabólica del prematuro, con énfasis en la prevención y tratamiento precoz. Se realizó una revisión bibliográfica con términos MeSH, en las bases de datos de Pubmed, ClinicalKey, ScienceDirect, SciELO y LILACS. Aunque no hay consenso en las pautas de tamizaje, diagnóstico y tratamiento, la principal estrategia usada en la actualidad es el soporte nutricional individualizado que cubra las demandas de calcio, fósforo y vitamina D, asociado a métodos de intervención clínica y seguimiento de bebés de alto riesgo. La comprensión de esta patología permitirá mejorar las estrategias de tamización, diagnóstico precoz, y de esta forma evitará complicaciones.
Abstract Metabolic bone disease of prematurity is a multifactorial pathology that represents a significant cause of morbidity and has increased in prevalence. Its diagnosis requires biochemical, radiological, and, in advanced stages, clinical criteria; therefore, many authors recommend screening and prevention strategies. This article aims to review the most relevant aspects of the metabolic bone disease of prematurity, with emphasis on prevention and early treatment. A bibliographic review was carried out with MeSH terms in the Pubmed, ClinicalKey, ScienceDirect, SciELO, and LILACS databases. Although there is no consensus on screening, diagnosis and treatment guidelines, the main strategy currently used is to provide individualized nutritional support that covers the demands of calcium, phosphorus and vitamin D associated with clinical intervention methods and monitoring of high-risk babies. Understanding this pathology will improve screening strategies and early diagnosis and thus avoid complications.
Assuntos
Humanos , Recém-NascidoRESUMO
Genomic studies of the Mycobacterium tuberculosis complex (MTBC) might shed light on the dynamics of its transmission, especially in high-burden settings, where recent outbreaks are embedded in the complex natural history of the disease. To this end, we conducted a 1 year prospective surveillance-based study in Mozambique. We applied whole-genome sequencing (WGS) to 295 positive cultures. We fully characterized MTBC isolates by phylogenetics and dating evaluation, and carried out a molecular epidemiology analysis to investigate further associations with pre-defined transmission risk factors. The majority of strains (49.5%, 136/275) belonged to lineage (L) 4; 57.8â% of them (159/275) were in genomic transmission clusters (cut-off 5 SNPs), and a strikingly high proportion (45.5%) shared an identical genotype (0 SNP pairwise distance). We found two 'likely endemic' clades, comprising 67 strains, belonging to L1.2, which dated back to the late 19th century and were associated with recent spread among people living with human immunodeficiency virus (PLHIV). We describe for the first time the population structure of MTBC in our region, a high tuberculosis (TB)/HIV burden area. Clustering analysis revealed an unforeseen pattern of spread and high rates of progression to active TB, suggesting weaknesses in TB control activities. The long-term presence of local strains in Mozambique, which were responsible for large transmission among HIV/TB-coinfected patients, calls into question the role of HIV in TB transmission.
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Infecções por HIV , Mycobacterium tuberculosis , Tuberculose , Infecções por HIV/epidemiologia , Humanos , Moçambique/epidemiologia , Mycobacterium tuberculosis/genética , Estudos Prospectivos , Tuberculose/epidemiologiaRESUMO
Worldwide, TB is one of the top 10 causes of death and the leading cause from a single infectious agent. Although the development and roll out of Xpert MTB/RIF has recently become a major breakthrough in the field of TB diagnosis, smear microscopy remains the most widely used method for TB diagnosis, especially in low- and middle-income countries. This research tests the feasibility of a crowdsourced approach to tuberculosis image analysis. In particular, we investigated whether anonymous volunteers with no prior experience would be able to count acid-fast bacilli in digitized images of sputum smears by playing an online game. Following this approach 1790 people identified the acid-fast bacilli present in 60 digitized images, the best overall performance was obtained with a specific number of combined analysis from different players and the performance was evaluated with the F1 score, sensitivity and positive predictive value, reaching values of 0.933, 0.968 and 0.91, respectively.
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Crowdsourcing , Mycobacterium tuberculosis , Tuberculose dos Linfonodos , Tuberculose Pulmonar , Humanos , Sensibilidade e Especificidade , Escarro/microbiologia , Tuberculose Pulmonar/diagnóstico , Tuberculose Pulmonar/microbiologiaRESUMO
Microencapsulation procedures have recently focused attention on designing novel microspheres via green synthesis strategies. The use of chitosan (CS) as an encapsulating material has increased interest due to its unique bioactive properties and the various crosslinking possibilities offered by their functional groups. The consolidation of the microspheres by physical crosslinking using sodium tripolyphosphate (TPP) combined with chemical crosslinking using vanillin (VA) open new opportunities in the framework of green dual crosslinking strategies. The developed strategy, a straightforward technique based on an aqueous medium avoiding complex separation/washing steps, offers advantages over the processes based on VA, mostly using water-in-oil emulsion approaches. Thus, in this work, the combination of TPP crosslinking (3, 5, and 10 wt.%) via spray-coagulation technique with two VA crosslinking methods (in situ and post-treatment using 1 wt.% VA) were employed in the preparation of microspheres. The microspheres were characterized concerning morphology, particle size, physicochemical properties, thermal stability, and swelling behavior. Results revealed that the combination of 5 wt.% TPP with in situ VA crosslinking led to microspheres with promising properties, being an attractive alternative for natural bioactives encapsulation due to the green connotations associated with the process.
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Benzaldeídos/química , Quitosana/química , Polifosfatos/química , Emulsões , MicroesferasRESUMO
The objective of this study was to assess the predictive value of a lung ultrasound (LUS) score in the development of moderate-severe bronchopulmonary dysplasia (sBPD). This was a prospective observational diagnostic accuracy study in a third-level neonatal intensive care unit. Preterm infants with a gestational age below 32 weeks were included. A LUS score (range 0-24 points) was calculated by assessing aeration semiquantitatively (0-3 points) in eight lung zones on the 7th day of life (DOL) and repeated on the 28th DOL. ROC curves and logistic regression were used for analysis. Forty-two preterm infants were included. The LUS on the 7th DOL had an area under the receiver operating characteristic curve (AUROC) of 0.94 (95% CI: 0.87-1) for the prediction of sBPD (optimal cutoff of ≥8 points: sensitivity 93%, specificity 91%). The LUS score was independently associated with sBPD [OR 2.1 (95% CI: 1.1-3.9), p = 0.022, for each additional point in the score]. Conclusions: Lung aeration as assessed by LUS on the 7th DOL may predict the development of sBPD.
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Displasia Broncopulmonar , Biomarcadores , Displasia Broncopulmonar/diagnóstico por imagem , Humanos , Lactente , Recém-Nascido , Recém-Nascido Prematuro , Pulmão/diagnóstico por imagem , Estudos Prospectivos , UltrassonografiaRESUMO
Management of wastewater is a major challenge nowadays, due to increasing water demand, growing population and more stringent regulations on water quality. Wastewaters from food conservation are especially difficult to treat, since they have high salinity and high organic matter concentration. The aim of this work is the treatment of the effluent from a table olive fermentation process (FTOP) with the aim of reusing it once the organic matter is separated. The process proposed in this work consists of the following membrane-based technologies: Ultrafiltration (UF) (UP005, Microdyn Nadir), Forward Osmosis (FO) (Osmen2521, Hydration Technology Innovation) and Nanofiltration (NF) (NF245, Dow). The FO process was implemented to reduce the salinity entering the NF process, using the FTOP as draw solution and, at the same time, to concentrate the centrate produced in the sludge treatment of a municipal wastewater treatment plant with the aim of obtaining a stream enriched in nutrients. The UF step achieved the elimination of 50% of the chemical oxygen demand of the FTOP. The UF permeate was pumped to the FO system reducing the volume of the anaerobically digested sludge centrate (ADSC) by a factor of 3 in 6.5 h. Finally, the ultrafiltrated FTOP diluted by FO was subjected to NF. The transmembrane pressure needed in the NF stage was 40% lower than that required if the ultrafiltration permeate was directly nanofiltered. By means of the integrated process, the concentration of organic matter and phenolic compounds in the FTOP decreased by 97%. Therefore, the proposed process was able to obtain a treated brine that could be reused in other processes and simultaneously to concentrate a stream, such as the ADSC.
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BACKGROUND: Contaminant DNA is a well-known confounding factor in molecular biology and in genomic repositories. Strikingly, analysis workflows for whole-genome sequencing (WGS) data commonly do not account for errors potentially introduced by contamination, which could lead to the wrong assessment of allele frequency both in basic and clinical research. RESULTS: We used a taxonomic filter to remove contaminant reads from more than 4000 bacterial samples from 20 different studies and performed a comprehensive evaluation of the extent and impact of contaminant DNA in WGS. We found that contamination is pervasive and can introduce large biases in variant analysis. We showed that these biases can result in hundreds of false positive and negative SNPs, even for samples with slight contamination. Studies investigating complex biological traits from sequencing data can be completely biased if contamination is neglected during the bioinformatic analysis, and we demonstrate that removing contaminant reads with a taxonomic classifier permits more accurate variant calling. We used both real and simulated data to evaluate and implement reliable, contamination-aware analysis pipelines. CONCLUSION: As sequencing technologies consolidate as precision tools that are increasingly adopted in the research and clinical context, our results urge for the implementation of contamination-aware analysis pipelines. Taxonomic classifiers are a powerful tool to implement such pipelines.
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Bactérias/genética , Contaminação por DNA , Variação Genética , Sequenciamento de Nucleotídeos em Larga Escala/normas , Mycobacterium tuberculosis/genética , Sequenciamento Completo do Genoma/normas , Sequenciamento de Nucleotídeos em Larga Escala/instrumentação , Polimorfismo de Nucleotídeo ÚnicoRESUMO
El síndrome WAGR (tumor de Wilms, aniridia, anomalías genitourinarias y retraso mental) es un trastorno genético infrecuente debido a la deleción de la región 11p13, que contiene los genes WT1 y PAX6. Comprende una combinación distintiva de afecciones clínicas; la aniridia y el tumor de Wilms son las más notables. Se presenta a un lactante de 17 meses con microcefalia, alteraciones oculares (buftalmos, leucocoria, aniridia bilateral), hipoplasia escrotal, testículos en la región inguinal y retraso en el neurodesarrollo, a quien se le realizó el estudio de amplificación de sondas dependiente de ligandos múltiples para WT1, que mostró haploinsuficiencia en las sondas que hibridaban la región 11p13, compatible con una deleción en heterocigosis del gen. Posteriormente, se diagnosticó tumor de Wilms. Dada su baja prevalencia, es importante difundir sus características clínicas y hacer énfasis en un manejo interdisciplinario centrado en la identificación precoz del síndrome y de sus posibles complicaciones. .
WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies and mental retardation) is an uncommon genetic disorder due to the deletion of the 11p13 region that contains the WT1 and PAX6 genes. It involves a distinctive combination of clinical conditions, with aniridia and Wilms tumor being the most notable. We present a 17-month-old infant with microcephaly, ocular alterations (buphthalmos, leukocoria, bilateral aniridia), scrotal hypoplasia, undescended testes and neurodevelopmental delay who underwent multiplex ligation-dependent probe amplification study for WT1, showing haploinsufficiency in the probes that hybridize to the 11p13 region, compatible with an heterozygous deletion of the gene. Wilms tumor was later diagnosed. WAGR syndrome is infrequent; its report in Latin America is low. It is important to disseminate its clinical characteristics, emphasizing an interdisciplinary management focused on the early identification of both the syndrome and its possible complications.
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Humanos , Masculino , Lactente , Síndrome WAGR/genética , Tumor de Wilms , Anormalidades Urogenitais , Aniridia , Síndrome WAGR/metabolismo , Proteínas WT1RESUMO
WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies and mental retardation) is an uncommon genetic disorder due to the deletion of the 11p13 region that contains the WT1 and PAX6 genes. It involves a distinctive combination of clinical conditions, with aniridia and Wilms tumor being the most notable. We present a 17-month-old infant with microcephaly, ocular alterations (buphthalmos, leukocoria, bilateral aniridia), scrotal hypoplasia, undescended testes and neurodevelopmental delay who underwent multiplex ligation-dependent probe amplification study for WT1, showing haploinsufficiency in the probes that hybridize to the 11p13 region, compatible with an heterozygous deletion of the gene. Wilms tumor was later diagnosed. WAGR syndrome is infrequent; its report in Latin America is low. It is important to disseminate its clinical characteristics, emphasizing an interdisciplinary management focused on the early identification of both the syndrome and its possible complications.
El síndrome WAGR (tumor de Wilms, aniridia, anomalías genitourinarias y retraso mental) es un trastorno genético infrecuente debido a la deleción de la región 11p13, que contiene los genes WT1 y PAX6. Comprende una combinación distintiva de afecciones clínicas; la aniridia y el tumor de Wilms son las más notables. Se presenta a un lactante de 17 meses con microcefalia, alteraciones oculares (buftalmos, leucocoria, aniridia bilateral), hipoplasia escrotal, testículos en la región inguinal y retraso en el neurodesarrollo, a quien se le realizó el estudio de amplificación de sondas dependiente de ligandos múltiples para WT1, que mostró haploinsuficiencia en las sondas que hibridaban la región 11p13, compatible con una deleción en heterocigosis del gen. Posteriormente, se diagnosticó tumor de Wilms. Dada su baja prevalencia, es importante difundir sus características clínicas y hacer énfasis en un manejo interdisciplinario centrado en la identificación precoz del síndrome y de sus posibles complicaciones.
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Síndrome WAGR/diagnóstico , Proteínas WT1/genética , Tumor de Wilms/diagnóstico , Adolescente , Deleção Cromossômica , Humanos , Masculino , Síndrome WAGR/genética , Síndrome WAGR/fisiopatologia , Tumor de Wilms/genética , Tumor de Wilms/patologiaRESUMO
This study evaluates the application of the vegetal activated carbon (AC), vegetable AC impregnated with Ag and Cu (0.08% m/m) and cationic SupergelTM SGC650H resin for adsorption of Fe3+ and Pb2+ ions in closed and batch system. The best adsorption capacities were obtained by using the cationic resin SGC650H, pH 3, temperature of 30 °C and stirring speed of 100 rpm. Thus, the kinetic and equilibrium experiments, in mono- and bicomponent, were performed using SGC650H resin, wherein the kinetic models of pseudo-first and pseudo-second order presented a good fit to the kinetic data, for mono- and bicomponent, respectively. The Langmuir isotherm adequately represented the monocomponent equilibrium data, showing maximum adsorption capacities values of 7.18 and 4.00 meq g-1 for Fe3+ and Pb2+, respectively. An inhibitory effect between the metal species was verified by fitting the modified extended Langmuir isotherm model to the binary equilibrium data, which allowed to predict changes in the surface affinity to the adsorbent by the metal ions. Based on the observed results, the use of SGC650H resin presents great potential for water treatment systems contaminated with heavy metals.