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CTNS Molecular Genetics Profile in a Portuguese Cystinosis Population

Open Journal of Genetics 2018年第4期8卷 91-100页

作者： Filipa Ferreira Ines Leal David Sousa Teresa Costa Conceicao Mota Ana Marta Gomes Daniela Lopes Maria do Carmo Macario Isabel Tavares Helena Pinto Joao Paulo Oliveira Rita Magrico Celia Carmona Sonia Ramos raquel neiva Ana Marcao Laura Vilarinho Newborn Screening Metabolism and Genetics UnitHuman Genetics DepartmentNational Institute of Health Dr Ricardo JorgePortoPortugal Centro Hospitalar Lisboa Norte Hospital de Santa MariaLisboaPortugal Centro Hospitalar Universitario do Porto PortoPortugal Centro Hospitalar Vila Nova de Gaia EspinhoPortugal Centro Hospitalar Universitario de Coimbra CHUCCoimbraPortugal Servico de Genetica Medica Centro Hospitalar de Sao JoaoPortoPortugal Unidade de Genetica Faculdade de Medicina da Universidade do PortoPortoPortugal I3S—Instituto de Investigacao e Inovacao em Saude PortoPortugal Servico de Nefrologia do Hospital Garcia de Orta AlmadaPortugal Research and Development Unit Department of Human GeneticsNational Institute of Health Dr Ricardo JorgePortoPortugal

Background: Cystinosis is a multisystemic autosomal recessive deficiency of the lysosomal membrane transporter protein (cystinosin) caused by mutations in CTNS gene. Objective: This study summarizes the Portuguese experience in the diagnosis and management of patients with this rare disease over the past few years and reports recurrent mutations in the CTNS gene. Methods: Unrelated patients from different pediatric and adult hospitals all over Portugal with non-nephrotic proteinuria, hypercalciuria, hypokalemia impaired proximal reabsorption of amino acids, glycosuria and hypophosphatemia, suggestive of a Fanconi syndrome and ocular problems, were studied. Intra-leukocyte cystine levels were determined and molecular analysis was performed, to determine the presence or absence of the 57-kb deletion in CTNS, followed by direct sequencing of the coding exons of CTNS. Results: From 1998 to 2017, twenty-one cystinotic patients were biochemically diagnosed. From the remaining seventeen (four deceased), eleven were studied for CTNS gene. Five out of eleven patients were homozygous for the 57-kb deletion (10/22;45.5%), and other five were compound heterozygous for this variant (15/22;68.2%). The other mutations found were p.Q128X (c.721 C>T;2/22), p.S139F (c.755 C>T;4/22) and c.18-21delGACT (p.T7FfsX7;1/22). All of these seventeen cystinotic patients are in treatment. Approximately 84% are adults, 16% are young children, and 54.5% are kidney transplant recipient. Conclusions: The authors would like to emphasize the importance of first screening for the 57-kb deletion since it is very common in our population. This genetic study is the first in our country and it could be the basis for future genetic counseling in Portuguese population.

关键词： Cystinosis CTNS Gene Mutational Spectrum Kidney Failure 57-kb Deletion

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Differential diagnosis between autism spectrum disorder and other developmental disorders with emphasis on the preschool period

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世界儿科杂志:英文版 2023年第8期19卷 715-726页

作者： Taynara Amancio de Lima Patricia Aparecida Zuanetti Marina Estima neiva Nunes Ana Paula Andrade Hamad Department of Neurosciences and Behavioral Sciences Ribeirão Preto Medical SchoolUniversity of São PauloAv.Bandeirantes3900Monte AlegreRibeirão PretoSP14049-900Brazil University Hospital Ribeirão Preto Medical SchoolUniversity of São Paulo(HCFMRP-USP)Ribeirão PretoSPBrazil

Background Neurodevelopmental disorders are a heterogeneous group of conditions that manifest as delays or deviations in the acquisition of expected developmental milestones and behavioral *** spectrum disorder(ASD)is a neurodevelopmental disorder characterized by deficits in communication and social interaction and by repetitive and restricted patterns of behavior,interests and *** aim of this review is to discuss the clinical features of the differential diagnoses of ASD that are prevalent among preschoolers,focusing on their similarities and *** sources The international medical literature search was conducted using PubMed and was revised regarding the subject using single and/or combined keywords as follows:differential diagnosis,preschoolers,diagnostic challenge,attention deficit hyperactivity disorder,intellectual disability,high abilities/giftedness,childhood apraxia of speech,social communication disorder,Landau–Kleffner syndrome,stereotyped movement disorder and excessive screen *** We describe conditions commonly found in clinical practice,taking ASD as a *** addressed converging and divergent aspects of behavior,cognition,communication,language,speech,socialization,and stereotypes for the diagnosis of ASD and other disorders identified as potential differential or comorbid *** The ranking and characterization of symptoms appear to be essential for better understanding the underlying common ground between children with developmental disorders and children with ASD,thus properly diagnosing and directing social,professional,or medication *** detailed discussion adds to the literature since,although ASD differential diagnoses are frequently mentioned and discussed in textbooks and journal articles,they rarely occupy a prominent place as we aimed herein.

关键词： Autism spectrum disorder Clinical features Differential diagnosis Neurodevelopmental disorders Preschool

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Lethal and Sublethal Effects of Leaves Extracts from Native and Exotic Plants in Southern Brazil against Spodoptera frugiperda （Lepidoptera： Noctuidae） Caterpillars

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Journal of Agricultural Science and Technology(A) 2014年第2期4卷 141-148页

作者： Marianna Pilla D'Incao Barbara Cravo de Quadros Paula Soares neiva Knaak Lidia Mariana Fiuza Laborat6rio de Microbiologia e Toxicologia PPG em Biologia Universidade do Vale do Rio dos Sinos (UNISINOS) Sao LeopoldoRio Grande do Sul CEP. 93022-000 Brasil

The caterpillar Spodopterafrugiperda is an important pest of several crops, due to the damage it causes and the difficulty of its control. The method of controlling these pests is through chemical insecticides, which cause adverse effects to the biotic and abiotic environment. The selection of new insecticides that meet the requirements of efficacy, safety, selectivity and those are economically viable, is highlighting the study of mechanisms of plant defense. The present study aimed to verify the insecticide effect of 27 plants in three different types of plants extracts： aqueous, decoction and polypeptide on S. frugiperda. Three plants were chosen for performing sublethal effects bioassays： two plants with the highest corrected mortality （E. pulcherrima and R. simsii） and the other plant （Maytenus ilicifolia （espinheira santa）） with corrected mortality similar to control. In preliminaries bioassays, 25 plants showed corrected mortality less than 50%, according to Abbott＇s formula. R. simsii （azalea） and E. pulcherrima （billed parrot） showed 51% and 68% of corrected mortality, respectively. Only R. simsii aqueous and the three extracts of E. pulcherrima differ significantly from control （P 〈 0.05）. The aqueous extracts and decoction of R. simsii and polypeptide extract of E. pulcherrima reduced the larval period of S. frugiperda, different from control （P 〈 0.05）. The polypeptide extract of R. simsii reduced the pupal period of the target insect. The extracts obtained by decoction, aqueous and polypeptide of E. pulcherrima extracts and decoction of polypeptides and R. simsii affected the fertility and fecundity of S. frugiperda. For the other parameters, there is no significant difference when compared with the control. The results of this study suggest that the extracts obtained by decoction, aqueous and polypeptide of E. pulcherrima and R. simsii can be used to control S. frugiperda. However, the successful search, product starting from extracts of plants depends

关键词： Armyworm Spodopterafrugiperda plant extracts bioassays biopesticide

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ROSE: Alternative for Cancelled and Inconclusive Cytopathologic Examinations, as Well as Professional Training at the UNESP-Botucatu Veterinary Hospital

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Open Journal of Veterinary Medicine 2019年第9期9卷 121-135页

作者： Fabiane Andrade Correia neiva Eduardo Eburnio Paula de Sanctis Nayara Maria Gil Mazzante Noeme Sousa Rocha Investigative and Comparative Pathology Laboratory S&Atilde o Paulo State University (UNESP) Botucatu Brazil School of Medicine from Botucatu S&Atilde o Paulo State University (UNESP) Botucatu Brazil

ROSE is a method for fast sample evaluation that does not compromise sensitivity and specificity in the hospital environment when establishing the diagnosis and the therapeutic protocol. The technique is already well-established in human medicine as it operates within the standard operational procedure, reducing the rates of inconclusive results and cancelled cytopathology assays in the hospital environment. However, its application is scarce in Veterinary Medicine, including in hospitals where intensive care is available. This study aims at conducting a case-by-case assessment of inconclusive and cancelled examinations in the Cytopathology Outpatient Clinic at UNESP (HV), Botucatu, Brazil, from 2012 to 2016 and ascertains the causes. For this purpose, a retrospective study was conducted for 9587 examinations in canines, of which 4.1% and 10.44% were inconclusive and cancelled, respectively. These results are not in line with ROSE, which foresees a total rate of 5% for these occurrences. The reasons for these high rates in the outpatient clinic were the lack of a Standard Operating Procedure (SOP) and the relative inexperience of the residents in a university hospital. Therefore, with the adoption of the ROSE protocol for veterinary cytopathological examinations, together with adequate training for the outpatient professionals responsible for the examinations, the goals set forth by the ROSE protocol would be met and the rates of inconclusive and cancelled examinations would decrease considerably. Lastly, this study hopes to contribute towards the diagnosis and therapeutic protocols of the main diseases affecting dogs.

关键词： PAAF Inconclusive or Canceled Cytology Canine ROSE Rapid On-Site Evaluation

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含锡花岗岩的地球化学

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地球与环境 1985年第6期 62-69页

作者： A.M.R.neiva ,黄林

引言 Tarson和Kozlov(1973)曾利用Rb/Ba和Rb/Sr比值作为花岗岩含Sn、W、Mo潜势的指标。Lawrence(1974)也认为Rb/Sr比值可作为酸性花岗岩含矿潜势的有用标志。Beus和Grigorian(1977)把Mg/Li作为含锡花岗岩的标志。Oliveira和Pereira(1980... 详细信息

关键词：白云母 Rb Ba 伟晶岩石英脉脉岩花岗岩区含锡花岗岩锡含量云英岩化花岗岩长英岩酸性岩细晶岩地球科学地球化学

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Low-Cost Sensors Calibration for Monitoring Air Quality in the Federal District—Brazil

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Journal of Environmental Protection 2015年第2期6卷 173-189页

作者： Erick Frederico Kill Aguiar Henrique Llacer Roig Luís Henrique Mancini Eduardo neiva Caetano Botelho de Carvalho Institute of Geosciences (IG) University of Brasilia Brasilia Brazil

Critical situations that cannot be solved by conventional approaches (traditional air quality monitoring networks), have the possibility of being managed quickly by a wide network of portable systems with sensors. The purpose of this research was to calibrate and validate low-cost sensors. Pilot indoor and outdoor areas, in the central area of Brasilia (Brazil’s capital city) were chosen for corporative performance evaluation of the sensors. The CO at 99.999% volumetric injection method has been used in a gas test box, among two MiCS-5521 (CO/VOC) sensors, one being new and the other one with a short useful life. The number of injections adopted to each volume (from 1 ml to 6 ml) was 10, rising each sensor’s confidence interval mean. A increase of the injected volume (ml) of CO resulted in significant decrease in a resistance (Ohms), as shown by a good inverse relationship on the interaction of these two variables (r = 0.88), with good measurement accuracy, when compared to the manufacturer’s reference datasheet. Finally, a geospatial management system was built for the pollution data measured by the low-cost sensors.

关键词： Low-Cost Sensors Monitoring Air Quality Calibration of Micro-Sensors MiCS-5521 (CO/VOC) WebGIS

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应用下颌隆突进行牙槽嵴增量和上颌窦提升：病例报告

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中国口腔医学继续教育杂志 2008年第4期11卷 31-35页

作者： Rodrigo F. neiva Gise e F, neiva Horn-Lay Wang 李率（译）梁成（审）不详北京大学口腔医院颌面外科北京海淀区中关村南大街22号100081

本文报道了应用下颌隆突作为自体骨移植的供骨源进行牙槽嵴增量和上颌窦提升植骨．使种植体获得理想的植入位置。1例伴有双侧下颌舌侧隆突患者需要修复缺失的上颌磨牙和下颌前磨牙。两个缺失牙区域的牙槽嵴均存在骨量不足，种植前需要... 详细信息

本文报道了应用下颌隆突作为自体骨移植的供骨源进行牙槽嵴增量和上颌窦提升植骨．使种植体获得理想的植入位置。1例伴有双侧下颌舌侧隆突患者需要修复缺失的上颌磨牙和下颌前磨牙。两个缺失牙区域的牙槽嵴均存在骨量不足，种植前需要进行骨移植。下颌隆突被用于下颌牙槽嵴的侧方增量以及为增加上颌牙槽嵴垂直高度而进行的上颔窦提升。植骨术后6个月，两个植骨区均可见足够的新骨形成。植骨区新形成的骨质形态与正常骨质相一致。种植体成功植入并负重，美观和功能得到恢复。通过本病例的观察，下颌隆突可用于牙槽嵴增量和上颌窦提升。但是下颌隆突作为自体骨移植的供骨源，其疗效尚有待进一步的临床研究。

关键词：植骨牙种植体外生性骨疣上颌窦提升术牙槽嵴增量术下颌隆突

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Validation of Educational Video to Promote Self-Efficacy in Preventing Childhood Diarrhea

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Health 2015年第2期7卷 192-200页

作者： Ludmila Alves do Nascimento Andressa Peripolli Rodrigues Emanuella Silva Joventino neiva Francenely Cunha Vieira Patrícia Neyva da Costa Pinheiro Lorena Barbosa Ximenes Department of Nursing Federal University of Ceará Fortaleza Brazil

The aim of this study was to evaluate and to validate an educational video to promote maternal self-efficacy in preventing childhood diarrhea with women assisted in a health unit. Validation study, developed with 17 mothers whose children were under five years old, was analyzed on scenes of an educational video according to the validity of appearance (clarity/comprehension) and of content (relevance). The scenes were considered clear and comprehensive with a perceptual above 70% and with an average of 96.9% of agreement. Regarding the relevance, the agreement was maintained between 94% and 100%, however only scenes 03 and 13 presented 76.6% and 70.6% of agreement respectively. Global Content Validation Index of the educational video scenes was 0.97 meaning an excellent level of agreement among mothers. The video showed to be a valid and a trustworthy material to promote maternal self-efficacy in preventing childhood diarrhea. Therefore, it is important that the material is disseminated in other health services so that other mothers may have contact with the same, providing greater reliability of the material.

关键词： Diarrhea Infantile Self Efficacy Educational Technology Health Education Nursing

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灵长类动物神经压迫致面瘫模型：小型非人类灵长类动物的新型面瘫模型

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临床耳鼻咽喉头颈外科杂志 2013年第8期27卷 429-431页

作者： FELIPE COSTA neiva ANDREI BORIN SIMONE CININI LUIZ EUGENIO A.M MELLO OSWALDO LARCIO M.CRUZ JOS RICARDO G.TESTA 张甦琳周柳青孔维佳 Otorhinolaryngology and Head and Neck Surgery Department Federal University of Sao Paulo / UNIFESPSao PauloBrazil Physiology Department Federal University of Sao Paulo / UNIFESPSao PauloBrazil 华中科技大学同济医学院附属协和医院耳鼻咽喉科武汉430022

目的:推广一种面神经损伤模型(绒猴)。方法:将各个非人类灵长类动物绒猴进行3种不同的面神经损伤处理,术后均观察27d,通过图像记录面部运动。结果:两种神经压迫后严重面瘫的模型能够在预估的时间内逐渐恢复到正常水平,而切除神经后则完... 详细信息

目的:推广一种面神经损伤模型(绒猴)。方法:将各个非人类灵长类动物绒猴进行3种不同的面神经损伤处理,术后均观察27d,通过图像记录面部运动。结果:两种神经压迫后严重面瘫的模型能够在预估的时间内逐渐恢复到正常水平,而切除神经后则完全失去了面部运动恢复的可能。结论:我们认为压迫所致面神经损伤可以在一个合理的观察窗(4周)内,进行神经营养效果的可能分析。此外,没有迹象表明半面的肌肉有来自于对侧神经的交叉支配,或者其他伴行的神经支配。

关键词：面神经神经再生动物模型神经学脑神经病脑神经神经退化

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快速扩弓的螺旋CT研究

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中国口腔医学继续教育杂志 2006年第1期9卷 58-63页

作者： Susana Maria Deon Rizzatto Guilherme Thiesen Marcus Vinicius neiva Nunes do Rego Ernani Menezes Marchioro Luciane Mecedo Menezes 张若芳（译）傅民魁（校）不详北京大学口腔医学院北京海淀区中关村南大街22号 100081

目的对比改良Haas扩弓器快速扩弓的传统影像学和螺旋CT研究的区别。材料和方法一个7岁零6个月的患儿进行上颌快速扩弓，扩弓效果通过常规的X线影像学方法和螺旋CT研究进行评价。结论结果表明过度扩弓是可取的。螺旋CT研究表明腭中缝... 详细信息

目的对比改良Haas扩弓器快速扩弓的传统影像学和螺旋CT研究的区别。材料和方法一个7岁零6个月的患儿进行上颌快速扩弓，扩弓效果通过常规的X线影像学方法和螺旋CT研究进行评价。结论结果表明过度扩弓是可取的。螺旋CT研究表明腭中缝在后部的扩展要比传统X线观察的扩弓程度要小。

关键词：上颌快速扩弓 CT研究螺旋影像学方法 X线观察扩弓效果扩弓器腭中缝

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