Molecular basis of various forms of maple syrup urine disease in Chilean patients.

BACKGROUND: Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder caused by the deficient activity of the branched-chain α-keto acid dehydrogenase (BCKD) enzymatic complex. BCKD is a mitochondrial complex encoded by four genes: BCKDHA, BCKDHB, DBT, and DLD. MSUD is predominantly caused by mutations in the BCKDHA, BCKDHB, and DBT genes which encode the E1α, E1ß, and E2 subunits of the BCKD complex, respectively. The aim of this study was to characterize the genetic basis of MSUD in a cohort of Chilean MSUD patients by identifying point mutations in the BCKDHA, BCKDHB, and DBT genes and to describe their impact on the phenotypic heterogeneity of these patients. METHODS: This manuscript describes a cross-sectional study of 18 MSUD patients carried out using PCR and DNA sequencing. RESULTS: Four novel pathogenic mutations were identified: one in BCKDHA (p.Thr338Ile), two in BCKDHB (p.Gly336Ser e p.Pro240Thr), and one in DBT (p.Gly406Asp). Four additional pathogenic mutations found in this study have been described previously. There were no correlations between the genotype and phenotype of the patients. CONCLUSION: If MSUD is diagnosed earlier, with a newborn screening approach, it might be possible to establish genotype-phenotype relationships more efficiently.

Surface Defect System for Long Product Manufacturing Using Differential Topographic Images.

Current industrial products must meet quality requirements defined by international standards. Most commercial surface inspection systems give qualitative detections after a long, cumbersome and very expensive configuration process made by the seller company. In this paper, a new surface defect detection method is proposed based on 3D laser reconstruction. The method compares the long products, scan by scan, with their desired shape and produces differential topographic images of the surface at very high speeds. This work proposes a novel method where the values of the pixels in the images have a direct translation to real-world dimensions, which enables a detection based on the tolerances defined by international standards. These images are processed using computer vision techniques to detect defects and filter erroneous detections using both statistical distributions and a multilayer perceptron. Moreover, a systematic configuration procedure is proposed that is repeatable and can be performed by the manufacturer. The method has been tested using train track rails, which reports better results than two photometric systems including one commercial system, in both defect detection and erroneous detection rate. The method has been validated using a surface inspection rail pattern showing excellent performance.

Exposición a Bisfenol A (BPA) en mujeres embarazadas y su relación con la obesidad en sus hijos: Revisión Sistemática / Pregnant Women's Exposure to Bisphenol A (BPA) and its Relation to their Children's Obesity: A systematic Review / Exposição ao bisfenol a (BPA) em mulheres engravidadas e a sua relação com a obesidade em seus filhos: uma revisão sistemática

Resumen Introducción: El bisfenol A (BPA) es un contaminante químico no persistente que altera el funcionamiento normal del sistema endocrino. Se sugiere que la exposición prenatal a BPA se asocia con la obesidad en la descendencia. Objetivo: Revisar la literatura sobre la exposición al BPA en mujeres embarazadas y su relación con la obesidad en sus hijos. Metodología: Revisión sistemática de acuerdo a la guía PRISMA, donde se realizaron búsquedas en las bases de datos Pubmed, ScienceDirect, Clinical Key, Medline, Ebsco y Scielo y el motor de búsqueda Google Scholar hasta 30 de abril de 2017 por dos investigadores independientes que utilizaron iguales términos de búsqueda. Se incluyeron estudios prospectivos de cohorte realizados que midieron el BPA en la orina materna. Resultados: Se incluyeron 5 estudios con tamaños de muestra que varían entre 297 y 757 binomios madre e hijo, se encontró asociación positiva entre la exposición prenatal a BPA con la circunferencia de cintura en niños de cuatro años β: 0.28 (IC95%:0.01 a 0.57) y el índice de masa grasa β: 0.31 (IC95%: 0.01 a 0.60) en dos de los estudios. Además, se observaron asociaciones positivas y/o negativas no significativas con índice de masa corporal y su puntaje Z, porcentaje de grasa, sobrepeso/obesidad, peso y talla al nacer, porcentaje de masa grasa. Conclusión: Los resultados del cuerpo existente de estudios epidemiológicos de cohorte, limita las afirmaciones sobre un vínculo causal entre la exposición prenatal BPA y la obesidad postnatal.

Abstract Introduction: Bisphenol A (BPA) is a non-persistent chemical pollutant which alters the normal functioning of the endocrine system. It is suggested that prenatal exposure is related to descendant obesity. Objective: Review literature on pregnant women's exposure to BPA and the relation to their children's obesity. Methodology: Systematic review in accordance with PRISMA guidelines. Searches were conducted on databases including Pubmed, ScienceDirect, Clinical Key, Medline, Ebsco and Scielo and Google Scholar search engine until April 30, 2017 by two independent researchers that used the same search terms. Prospective cohort conducted studies were included because they measured BPA in maternal urine. Results: Five studies were included with sample sizes ranging from 297 to 757 mother-child binomials. The review found a positive association between prenatal BPA exposure with 4-year-old children's waist circumference β: 0.28 (95% CI :0.01 to 0.57) and the fat mass index β: 0.31 (95%CI: 0.01 to 0.60) in two of the studies. non-significant positive and/or negative associations where observed with body mass index z-scores, overweight/ obesity, weight and size at birth, body mass percentage. Conclusion: The results of cohort epidemiological studies constrain statements regarding a causal link between prenatal BPA exposure and postnatal obesity.

Resumo Introdução: O bisfenol A (BPA) é um contaminante químico não persistente que altera o funcionamento normal do sistema endócrino. Se sugere que a exposição pré-natal se associa com a obesidade na descendência. Objetivo: Revisar a literatura sobre a exposição ao BPA em mulheres engravidadas e a sua relação com a obesidade em seus filhos. Metodologia: Revisão sistemática de acordo com a guia PRISMA. Se realizaram pesquisas nas bases de dados Pubmed, ScienceDirect, Clinical Key, Medline, Ebsco e Scielo e o motor de pesquisa Google Scholar até o 30 de Abril de 2017 por dois investigadores independentes que utilizaram os mesmos termos de busca. Se incluíram estudos prospectivos de coorte realizados que calcularam o BPA na urina materna. Resultados: Se incluíram 5 estudos com tamanhos de amostra entre 297 e 757 binômios mãe e filho, se encontrou associação positiva entre a exposição pré-natal a BPA com a circunferência de cintura em meninos de quatro anos β: 0.28 (IC95%:0.01 a 0.57) e o índice de massa de gordura β: 0.31 (IC95%: 0.01 a 0.60) em dois dos estudos. Se enxergaram associações positivas e/ou negativas não significativas com índice de massa corporal e a sua pontuação Z, porcentagem de gordura, sobrepeso/obesidade, peso e dimensão ao nascer, porcentagem de massa de gordura. Conclusão: Os resultados de estudos epidemiológicos de coorte, limita as afirmações sobre um vínculo causal entre a exposição pré-natal BPA e a obesidade pós-natal.

Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations.

BACKGROUND: Classical Galactosemia (CG) is an inborn error of galactose metabolism caused by the deficiency of the galactose-1-phosphate uridyltransferase enzyme. It is transmitted as an autosomal recessive disease and is typically characterized by neonatal galactose intolerance, with complications ranging from neonatal jaundice and liver failure to late complications, such as motor and reproductive dysfunctions. Galactosemia is also heterogeneous from a molecular standpoint, with hundreds of different mutations described in the GALT gene, some of them specific to certain populations, reflecting consequence of founder effect. METHODS: This study reviews the main clinical findings and depicts the spectrum of mutations identified in 19 patients with CG, six with Duarte Galactosemia and one with type 2 Galactosemia in Brazil. Some individuals were diagnosed through expanded newborn screening test, which is not available routinely to all newborns. RESULTS: The main classical Galactosemia mutations reported to date were identified in this study, as well as the Duarte variant and seven novel mutations - c.2 T > C (p.M1T), c.97C > A (p.R33S), c.217C > T (p.P73S), c.328 + 1G > A (IVS3 + 1G > A), c.377 + 4A > C (IVS4 + 4A > C), c.287_289delACA (p.N97del) and c.506A > C (p.Q169P). This was expected, given the high miscegenation of the Brazilian population. CONCLUSIONS: This study expands the mutation spectrum in GALT gene and reinforces the importance of early diagnosis and introduction of dietary treatment, what is possible with the introduction of Galactosemia in neonatal screening programs.

Robot Guidance Using Machine Vision Techniques in Industrial Environments: A Comparative Review.

In the factory of the future, most of the operations will be done by autonomous robots that need visual feedback to move around the working space avoiding obstacles, to work collaboratively with humans, to identify and locate the working parts, to complete the information provided by other sensors to improve their positioning accuracy, etc. Different vision techniques, such as photogrammetry, stereo vision, structured light, time of flight and laser triangulation, among others, are widely used for inspection and quality control processes in the industry and now for robot guidance. Choosing which type of vision system to use is highly dependent on the parts that need to be located or measured. Thus, in this paper a comparative review of different machine vision techniques for robot guidance is presented. This work analyzes accuracy, range and weight of the sensors, safety, processing time and environmental influences. Researchers and developers can take it as a background information for their future works.

The Logistics and Coordination of Respiratory Syncytial Virus Immunoprophylaxis Use Among US Pediatric Specialists.

This study was conducted to survey US pediatric specialists about administration of respiratory syncytial virus (RSV) immunoprophylaxis, communication patterns among physicians and parents, and barriers to access. Separate surveys were sent to neonatologists, pediatricians, pediatric pulmonologists, and pediatric cardiologists. Most physicians (≥93.5%) routinely recommended immunoprophylaxis to high-risk children. Most respondents (≥71.8%) reported that >50.0% of eligible infants and young children received each monthly dose throughout the RSV season, with the first dose most commonly administered before discharge from the birth hospitalization. To ensure receipt of subsequent doses, specialists frequently scheduled a follow-up visit at the end of the current appointment. All specialists reported insurance denials as the biggest obstacle to the administration of immunoprophylaxis to high-risk children. These findings may be used to improve adherence to immunoprophylaxis by enhancing education and physician-parent communications about severe RSV disease prevention, and by reducing known barriers to use of this preventive therapy.

Perceived Risk of Severe Respiratory Syncytial Virus Disease and Immunoprophylaxis Use Among US Pediatric Specialists.

This study was conducted to assess the perception of US pediatric specialists of respiratory syncytial virus (RSV) disease risk and determine their clinical practices regarding immunoprophylaxis for high-risk children. Separate surveys were sent to neonatologists, pediatricians, pediatric pulmonologists, and pediatric cardiologists. Data were collected using structured questions requiring quantitative responses. Most neonatologists and pediatricians (>82.7%) reported a high clinical need for RSV immunoprophylaxis in preterm infants <32 weeks' gestational age. Pediatric pulmonologists and pediatric cardiologists suggested that health conditions indicative of chronic lung disease of prematurity and hemodynamically significant congenital heart disease, respectively, confer eligibility for RSV immunoprophylaxis. Agreement with the changes in the 2014 American Academy of Pediatrics guidance for RSV immunoprophylaxis was mixed among respondents from the 4 specialties. Survey findings may provide a basis to improve education about risk for severe RSV disease and evaluate changes in physician use of RSV immunoprophylaxis based on the 2014 guidance.

Structured-light sensor using two laser stripes for 3D reconstruction without vibrations.

3D reconstruction based on laser light projection is a well-known method that generally provides accurate results. However, when this method is used for inspection in uncontrolled environments, it is greatly affected by vibrations. This paper presents a structured-light sensor based on two laser stripes that provides a 3D reconstruction without vibrations. Using more than one laser stripe provides redundant information than is used to compensate for the vibrations. This work also proposes an accurate calibration process for the sensor based on standard calibration plates. A series of experiments are performed to evaluate the proposed method using a mechanical device that simulates vibrations. Results show excellent performance, with very good accuracy.

On-line flatness measurement in the steelmaking industry.

Shape is a key characteristic to determine the quality of outgoing flat-rolled products in the steel industry. It is greatly influenced by flatness, a feature to describe how the surface of a rolled product approaches a plane. Flatness is of the utmost importance in steelmaking, since it is used by most downstream processes and customers for the acceptance or rejection of rolled products. Flatness sensors compute flatness measurements based on comparing the length of several longitudinal fibers of the surface of the product under inspection. Two main different approaches are commonly used. On the one hand, most mechanical sensors measure the tensile stress across the width of the rolled product, while manufacturing and estimating the fiber lengths from this stress. On the other hand, optical sensors measure the length of the fibers by means of light patterns projected onto the product surface. In this paper, we review the techniques and the main sensors used in the steelmaking industry to measure and quantify flatness defects in steel plates, sheets and strips. Most of these techniques and sensors can be used in other industries involving rolling mills or continuous production lines, such as aluminum, copper and paper, to name a few. Encompassed in the special issue, State-of-the-Art Sensors Technology in Spain 2013, this paper also reviews the most important flatness sensors designed and developed for the steelmaking industry in Spain.

Monitoring sintering burn-through point using infrared thermography.

Sintering is a complex industrial process that applies heat to fine particles of iron ore and other materials to produce sinter, a solidified porous material used in blast furnaces. The sintering process needs to be carefully adjusted, so that the combustion zone reaches the bottom of the material just before the discharge end. This is known as the burn-through point. Many different parameters need to be finely tuned, including the speed and the quantities of the materials mixed. However, in order to achieve good results, sintering control requires precise feedback to adjust these parameters. This work presents a sensor to monitor the sintering burn-through point based on infrared thermography. The proposed procedure is based on the acquisition of infrared images at the end of the sintering process. At this position, infrared images contain the cross-section temperatures of the mixture. The objective of this work is to process this information to extract relevant features about the sintering process. The proposed procedure is based on four steps: key frame detection, region of interest detection, segmentation and feature extraction. The results indicate that the proposed procedure is very robust and reliable, providing features that can be used effectively to control the sintering process.

Vision-based sensor for early detection of periodical defects in web materials.

During the production of web materials such as plastic, textiles or metal, where there are rolls involved in the production process, periodically generated defects may occur. If one of these rolls has some kind of flaw, it can generate a defect on the material surface each time it completes a full turn. This can cause the generation of a large number of surface defects, greatly degrading the product quality. For this reason, it is necessary to have a system that can detect these situations as soon as possible. This paper presents a vision-based sensor for the early detection of this kind of defects. It can be adapted to be used in the inspection of any web material, even when the input data are very noisy. To assess its performance, the sensor system was used to detect periodical defects in hot steel strips. A total of 36 strips produced in ArcelorMittal Avilés factory were used for this purpose, 18 to determine the optimal configuration of the proposed sensor using a full-factorial experimental design and the other 18 to verify the validity of the results. Next, they were compared with those provided by a commercial system used worldwide, showing a clear improvement.

Erros inatos do metabolismo confirmados no Hospital das Clínicas de Ribeirão Preto-SP no período de 2000 a 2008 / Inborn errors of metabolism in the Hospital of Clinics of Ribeirão Preto - SP from 2000 to 2008

Os Erros Inatos do Metabolismo (EIM) vêm sendo cada vez mais identificados nos últimos anos. A preocupação com o diagnóstico precoce decorre do foco na prevenção de deficiências, especialmente a mental. Este estudo descritivo teve por objetivo verificar diagnósticos confirmados e modalidades de tratamento utilizadas de janeiro de 2000 a dezembro de 2008. Método: foi realizada busca ativa de casos confirmados nos serviços que atendem esse tipo doença: neurologia (neuropediatria e doençasneuromusculares), pediatria (serviço de gastrologia e hepatologia) e genética clínica, além de levantamento no Serviço de Arquivo Médico do HCFMRP-USP. Foram confirmados 165 pacientes com EIM, com idades de um dia a 22 anos (mediana de um ano); 50 casos foram defeitos na síntese ou catabolismo de moléculas complexas, 65 no metabolismo intermediário, e 50 na produção ou utilização de energia. O tratamento foi instituído para 12 dos 50 pacientes do grupo I sendo reposição enzimática em 11 e transplante de medula óssea em um; todos do grupo II e III receberam orientação nutricional; 60 do grupo II receberam fórmula dietética industrializada; dos 50 do grupo III, 43 com mitocondriopatias receberam L-carnitina e coenzimas e aqueles com glicogenose, orientação sobre aporte de carbohidratos. A formação de novos recursos humanos, integração com a Rede EIM Brasil e linhas de pesquisa na área são prioridades para melhorar a acuidade na detecção e tratamento de erros inatos do metabolismo.

Inborn Errors of Metabolism have been increasingly identified in recent years. The early diagnosis focuses on prevention of disabilities, especially mental retardation. This descriptive study aims to verify confirmed diagnosis and treatment modalities in HCFMRP-USP cases from January of 2000 to December of 2008. A total of 165 patients with ages ranging from one day to 22 years (median one year) were detected. Fifty patients had synthesis or catabolism of complex molecules (group I), 65 intermediary metabolism (group II), and 50 had production or use of energy (group III) defects. Among the patients of group I, 11 had enzyme replacement therapy, and one bone marrow transplantation; for group II and III, inaddition to daily nutritional guidance for all of the patients, 60 from group II received industrialized diets; from group III, 43 with mitochondrial diseases received L-carnitine and coenzymes, and those with glycogenosis were focused mainly on the intake of carbohydrates. New human resources, integration with the Network EIM Brazil and lines of research in the area are priorities for improving the accuracy in the detection and treatment of inborn errors of metabolism.

Human metapneumovirus and respiratory syncytial virus infections in older children with cystic fibrosis.

BACKGROUND: Human metapneumovirus (hMPV) has been isolated from children with acute respiratory infection worldwide. Its epidemiology remains to be defined in children with cystic fibrosis (CF). We describe the epidemiology and clinical impact of hMPV in CF children and compared it to respiratory syncytial virus (RSV). METHODS: CF children ages 7-18 years were studied prospectively during the 1998 -1999 RSV season. Nasopharyngeal specimens were collected during acute respiratory illnesses and tested for respiratory viruses. Blood specimens were drawn early, mid, and end of the RSV season, and tested for serological evidence of hMPV and RSV infections. Rates of lower respiratory tract illnesses (LRTI) and hospitalizations for pulmonary exacerbations were compared during the time intervals they developed serological evidence of infection to their non-infection intervals. RESULTS: Six of 44 CF children had a virus positive respiratory illness in 56 LTRI events and 18 hospitalizations. Serological evidence of hMPV and RSV infections occurred in 16 and 20 CF children, respectively; 8 had infections with both viruses. A greater proportion of CF children had >or=1 LRTI during their infection intervals compared to their non-infection intervals (13/25 vs. 5/25; P=0.03). A trend for higher rates of LRTI was observed in the infection intervals compared to non-infection intervals (9.5 +/- 11.0 vs. 4.2 +/- 9.9 per 1,000 child-days; P=0.06), and it was significantly greater with a more conservative estimate (one event per child per interval; 7.4 +/- 7.7 vs. 2.6 +/- 5.4 per 1,000 child-days; P