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CTNS Molecular Genetics Profile in a Portuguese Cystinosis Population

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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

Interleukin 28B-related polymorphisms: A pathway for understanding hepatitis C virus infection?

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World Journal of Gastroenterology 2013年第42期19卷 7399-7404页

作者： Raquel Francine Liermann Garcia Simone Moreira ana lucia de Araújo Ramos Leslie Ecker Ferreira Angelo Alves de Mattos Cristiane Valle Tovo Lysandro Alsina Nader Juliene Antonio Ramos Edson Rondinelli Arnaldo de Jesus Dominici Christian Evangelista Garcia Mauro de Souza Leite Pinho Carlos Eduardo Brando-Mello Cristiane Alves Villela-Nogueira Paulo Henrique Condeixa de Frana Departamento de Medicina Universidade da Regio de Joinville/UnivilleJoinville89219-719 Santa CatarinaBrazil Departamento de Clinica Médica e Cirurgia Geral Hospital Municipal So José Joinville89202-000 Santa CatarinaBrazil Departamento de Clínica Médica Servio de HepatologiaFaculdade de Medicina/Hospital Universitário Clementino Fraga Filho/Universidade Federal do Rio de Janeiro21941-913 Rio de JaneiroBrazil Servio de Gastroenterologia e Hepatologia Irmandade da Santa Casa de Misericórdia/ISCMPAPorto Alegre90020-090 Rio Grande do SulBrazil Servio de Endoscopia Universidade Federal de Pelotas/UFPelPelotas96010-610 Rio Grande do SulBrazil Instituto de Biofísica Carlos Chagas Filho/UFRJ 21941-902 Rio de JaneiroBrazil Departamento de Gastroenterologia Hospital Universitário da Universidade Federal do Maranh o/UFMASo Luis65020-560 MaranhoBrazil Servio de Gastroenterologia Hospital Universitário Gaffrée Guinle/HUGG/UNIRIO20270-004 Rio de JaneiroBrazil

AIM:To analyze the role of rs12979860 and rs8099917polymorphisms in hepatitis C virus(HCV)genotype 1infection of ***:A total of 145 adult patients diagnosed with genotype 1 chronic hepatitis C(CHC)who had completed a 48-wk regimen of pegylated-interferonα-2a or-2b plus ribavirin combination therapy were recruited from six large urban healthcare centers and199 healthy blood donors(controls)from a single site between January 2010 and January *** on the patients’response to treatment was *** chain reaction-restriction fragment length polymorphism genotyping of the interleukin(IL)28B gene fragment encompassing the single nucleotide polymorphisms(SNPs)rs12979860(C/T)and rs8099917(T/G)was carried out for 79 of the CHC patients and 199 of the ***-directional amplicon sequencing of the two SNPs was carried out for the remaining 66 CHC ***:SNP rs12979860 genotyping was successful in 99.5%of the controls and 97.2%of the CHC patients,whereas the SNP rs8099917 genotyping was successful in 95.5%of the controls and 100%of the CHC *** genotype and allele distributions for both rs12979860 and rs8099917 were significantly different between the control and CHC patient groups,with significantly higher genotype frequencies of CC and TT in the controls(P=0.037 and 0.046,respectively)and of TT and GG in the CHC patients(P=0.0009and 0.0001,respectively).analysis of the CHC patients who achieved sustained virological response(SVR)to treatment(n=55)indicated that the rs12979860 C allele and CC genotype were predictors of SVR(P=0.02).No significant correlation was found between rs8099917 genotypes and treatment response,but carriers of the T allele showed significantly higher rates of SVR(P=0.02).Linkage disequilibrium analysis of the group that achieved SVR showed a significant association between rs12979860 and rs8099917(P=0.07).CONCLUSION:The higher allele frequency of rs12979860 C and rs8099917 T observed in non-HCVinfec

关键词： Hepatitis C Interleukin 28B Single nucleotide polymorphisms Sustained virological response Brazil

Impact of Pregnancy on the Sex Life of Women: State of the Art

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International Journal of Clinical Medicine 2013年第5期4卷 257-264页

作者： Liliam Renata Silveira Santiago lucia Alves da Silva Lara Adriana Peterson Mariano Salata Romao Maria Fernanda Barbirato da Mata Tiezzi ana Carolina Japur de Sa Rosa e Silva Department of Gynecology and Obstetrics Faculty of Medicine of Ribeirao PretoUniversity of São PauloRibeirao PretoBrazil.

Introduction: Women’s sexual function is a complex ensemble of variables that involve physical, emotional, and psychosocial states. Objective: This review aims to evaluate the evidence about the sexual behavior of women during pregnancy. Methods: Survey of PubMed for the period from 1996 to 2011 for prospective, retrospective and case-control studies, randomized clinical trials, meta-analyses and systematic reviews on the sexual function of women during pregnancy using the terms “sexual function”, “sexual dysfunction”, “sexuality”, “pregnancy”, and “pregnant woman”. Results: Changes occur in the sexual function of women during pregnancy;however, due to the heterogeneity of the studies and the incomparability of samples for lack of pairing for cultural, age, length of relationship and gestational age variables, and other methodological biases, it is not possible to characterize the sexual response of pregnant women. Conclusions: The changes observed are not sufficient to characterize sexual behavior during pregnancy as pathological. It is therefore necessary to standardize the study groups and the instruments for the assessment of sexual function, to determine the presence of distress concomitant with changes in sexual function, and to assess the sexual function of the partner and the impact of changes on the dyadic relationship before and after the gestational period.

关键词： Sexual Function Dysfunction Sexuality Pregnancy Pregnant

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物理 2018年第1期47卷 40-40页

作者：徐仁新 ana lopes 北京大学

洛伦兹不变性意味着物理定律跟实验所选参考系的速度或方向无关。尽管它是粒子物理标准模型和相对论的一个基本对称性,但一些试图统一这两大理论体系的模型却预言该对称性将破缺。不过,迄今尚未发现洛伦兹对称性破缺的证据。两个实验小... 详细信息

洛伦兹不变性意味着物理定律跟实验所选参考系的速度或方向无关。尽管它是粒子物理标准模型和相对论的一个基本对称性,但一些试图统一这两大理论体系的模型却预言该对称性将破缺。不过,迄今尚未发现洛伦兹对称性破缺的证据。两个实验小组最近又给出了更严格的限制。

关键词：相对论对称性破缺标准模型物理定律粒子物理洛伦兹参考系实验

Production and Characterization of New Fibrinolytic Protease from Mucor subtillissimus UCP 1262 in Solid-State Fermentation

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Advances in Enzyme Research 2015年第3期3卷 81-91页

作者： Thiago Pajeu Nascimento Amanda Emmanuelle Sales Camila Souza Porto Romero Marcos Pedrosa Brandao Galba Maria Campos Takaki Jose Antonio Couto Teixeira Tatiana Souza Porto ana lucia Figueiredo Porto Center for Biological Sciences Federal University of PernambucoRecifeBrazil Department of Morphology and Animal Physiology Federal Rural University of PernambucoRecifeBrazil Center for Research in Environmental Sciences Catholic University of PernambucoRecifeBrazil Institute for Biotechnology and Bioengineering Centre of Biological EngineeringUniversity of MinhoCampus of GualtarBragaPortugal Academic Unit of Garanhuns Federal Rural University of PernambucoGaranhunsBrazil

Fibrinolytic enzymes have received attention regarding their medicinal potential for thrombolytic diseases, a leading cause of morbidity and mortality worldwide. Various natural enzymes purified from animal, plant and microbial sources have been extensively studied. The aim of this work was to produce fibrinolytic protease by solid state fermentation using agro industrial substrates. Rhizopus arrhizus var. arrhizus UCP 1295 and Mucor subtillissimus UCP 1262 filamentous fungi species isolated from soil of Caatinga-PE, Brasil, were used as producer microorganisms. Wheat bran was shown to be the best substrate for the production of the enzyme and by using a 23 full factorial design the main effects and interactions of the quantity of the substrate wheat bran, moisture and temperature on the fibrinolytic enzyme production and protease were evaluated. The best results for fibrinolytic and protease activities, 144.58 U/mL and 48.33 U/mL, respectively, were obtained with Mucor subtillissimus UCP 1262 using as culture medium 3 g wheat bran, 50% moisture at a temperature of 25°C for 72 hours. The optimum temperature for the produced enzyme was 45°C and most of its original activity was retained after being subjected to 80°C for 120 min. The protease activity was enhanced by K+, Ca+ and Mn+;but with Cu+ there was an inhibition. The specificity to chromogenic substrate and the inhibition by PMSF indicates that it is a chymotrypsin-like serine protease. Presented results suggest that this enzyme produced by solid-state fermentation is an interesting alternative as a candidate for thrombolytic therapy.

关键词： Mucor Enzyme Protease Fibrinolytic Wheat

Microcephaly prevalence after the 2015 to 2016 Zika outbreak in Tangará da Serra, Brazil: a population-based study

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Reproductive and Developmental Medicine 2022年第2期6卷 98-103页

作者： Juliana Herrero da Silva ana Claudia Pereira Tercas-Trettel Juliano Andre Boquett Giovanny Vinicius Araujo Franca Augusto Cesar Cardoso-dos-Santos Marina Atanaka Marcelo Zagonel Oliveira Anna Pires Terra Viviane Karoline Vivi lucia Andreia Nunes de Oliveira lucia Schaedler Ronaldo Fernandes Santos Alves Lavinia Schuler-Faccini Prefeitura Municipal de Tangara da Serra Secretaria de SaudeVigilancia EpidemiologicaTangara da SerraBrazil Programa de Pos-Graduacao em Genetica e Biologia Molecular Universidade Federal do Rio Grande do SulPorto AlegreBrazil Universidade do Estado de Mato Grosso Tangara da SerraBrazil Programa de Pos-Graduagcao em Saude Coletiva Universidade Federal de Mato GrossoCuiabaBrazil Instituto Nacional de Genetica Medica Populacional-INaGeMP Servico de Genetica MedicaHospital de Clinicas de Porto Alegre(HCPA)Porto AlegreBrazil Programa de Pos-Graduacao em Saude da Crianga e do Adolescente Universidade Federal do Rio Grande do SulPorto AlegreBrazil Secretaria de Vigilancia em Saude Ministerio da SaudeBrasiliaBrazil Laboratorio de Visualizacao Avangada e Geoinformatica(VIZLab) Programa de Pos-Graduacao em Computacao AplicadaUniversidade do Vale do Rio dos SinosSao LeopoldoBrazil Programa de Pos-Graduacao em Ciencia da Informacao Universidade Federal do Rio Grande do SulPorto AlegreBrazil Clinica Santa Luzia Tangara da SerraBrazil

Objective::Prenatal infection with the Zika virus (ZIKV) can lead to congenital Zika syndrome (CZS), characterized by microcephaly and brain injury. However, there are questions regarding the prevalence of microcephaly/CZS after the ZIKV outbreak in defined geographic areas. This study aimed to identify adverse outcomes in live births of fetuses exposed in utero to the ZIKV, compared to unexposed births, as well as maternal sociodemographic, delivery, and birth ***::Here, we conducted a cross-sectional observational study to investigate the characteristics of all live births in the city of Tangará da Serra, Mato Grosso, Brazil, in 2016, after the outbreak of ZIKV infection in late 2015. All live births of children to women residing in the municipality of Tangará da Serra between January 1 and December 31, 2016, were evaluated, and head circumference was measured at birth and after 24 hours. Children born with microcephaly or a maternal history of confirmed or suspected prenatal ZIKV infection were evaluated by a multidisciplinary team. The outcomes of the exposed and non-exposed children were compared. Prevalence ratios and their respective 95% confidence intervals were calculated for sociodemographic, delivery, and live birth ***::Of 1,441 live births, 106 (7.3%) were from mothers with confirmed or highly probable exposure to ZIKV. The prevalence of severe congenital microcephaly (41.7/10,000) in Tangará da Serra in 2016 was ten-fold higher than that in Latin America before ***::This study may serve as a model to investigate possible outbreaks of infections in a defined geographical space in the future.

关键词： Epidemiology Live births Microcephaly Zika virus

厄他培南是否影响假单胞菌对其他碳青霉烯类抗生素的敏感性？

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中国感染与化疗杂志 2013年第3期13卷 235-240页

作者： David P.Nicolar Yehuda Carmeli Christopher W.Crank Debra A.Goff Christopher J.Graber ana lucia.Lima Ellie J.C.Goldstein Elsevier 黄海辉汪复 Information Technology(Beijing)Co.Ltd.Shanghai Branch(a related company to Elsevier Ltd.)

第2组碳青霉烯类抗生素(亚胺培南、美罗培南以及最近上市的多立培南)一直是铜绿假单胞菌、肠杆菌科细菌、其他难治性革兰阴性菌、以及需氧/厌氧菌混合感染导致的严重医院感染的支柱治疗药物。第1组碳青霉烯类抗生素厄他培南面市时,厄他... 详细信息

第2组碳青霉烯类抗生素(亚胺培南、美罗培南以及最近上市的多立培南)一直是铜绿假单胞菌、肠杆菌科细菌、其他难治性革兰阴性菌、以及需氧/厌氧菌混合感染导致的严重医院感染的支柱治疗药物。第1组碳青霉烯类抗生素厄他培南面市时,厄他培南的临床应用是否会选择出对亚胺培南和美罗培南耐药的假单胞菌这一问题随之而来。10项临床研究评估了应用厄他培南对假单胞菌属对第2组碳青霉烯类抗生素敏感性的影响,结果一致显示,应用厄他培南不会降低假单胞菌对第2组碳青霉烯类抗生素的敏感性。现对上述研究进行回顾分析,为厄他培南的临床应用提供参考。

关键词：碳青霉烯类生态学厄他培南假单胞菌管理敏感性

Gastric laceration after cardiopulmonary resuscitation:A case report

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Case Reports in Clinical Medicine 2014年第1期3卷 52-56页

作者： Rita Simone lopes Moreira Solange Guizilini Natasha Marcondes Ramiro Colleoni Isadora S.Rocco Iran Goncalves ana Christina Velloso Caluza Vinicius Santos Batista Antonio Carlos de Camargo Carvalho Hospital Sao Paulo-University Hospital of Federal University of Sao Paulo Sao PauloBrazil Department of Cardiology Federal University of Sao PauloSao PauloBrazil

The cardiopulmonary resuscitation (CPR) persists as the best practice to maintain cerebral and coronary perfusion after cardiac arrest. Due to the chest compressions and ventilation maneuvers during resuscitation, there are common complications reported. Abdominal organs injuries occur in approximately 30% of patients, although studies show that they are under diagnosticated. The aim of this article is to report a case of massive digestive hemorrhage by gastric laceration after cardiopulmonary resuscitation, due to the event severity and rare clinic diagnostic. A 75-year-old Caucasian man suffered a sudden malaise and cardiac arrest and transferred to an Emergency Unit (EU). The set of measures recommended by Advanced Cardiac Life Support (ACLS) was performed. Despite no resistance to the passage of nasogastric survey and spontaneous healing of fresh blood exteriorization, an endoscopy showed ulcers in gastric notch with clots adhered and active blood. There was no track record of liver or gastrointestinal diseases on this patient, identifying a gastric laceration after cardiopulmonary resuscitation. The mechanism by which the gastric laceration after CPR occurred is uncertain. Nevertheless, some precipitating factors are considered such as positioning of the patient during CPR, ideal point of compressions and ventilation pressure. In conclusion, this event is rare with a hard diagnostic however that could be avoided and minimized with preventive measures.

关键词： Cardiac Arrest Ventilation Emergency Care Complications Gastric Injury Cardiopulmonary Resuscitation

Rheological and Morphological Properties of Composites Based on Polylactide and Talc

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材料科学与工程（中英文B版） 2013年第11期3卷 695-699页

作者： Talita F. Cipriano ana lucia Nazareth da Silva Antonio Henrique Monteiro da Fonseca Thome da Silva anaMaria Furtado de Sousa Gustavo Monteiro da Silva Christine Rabello do Nascimento Instituto de Macromol~culas Professora Eloisa Mano (IMA/UFRJ) Rio de Janeiro 21945-970 Brasil Departamento Agricola e Meio Ambiente (UFF) Niteroi 24210-240 Brasil Instituto de Quimica (IQ/UERJ) 20550-013 Brasil Programa de Engenharia Metalurgica (PEMM/COPPE/UFRJ) Rio de Janeiro 21941-908 Brasil