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Bartter's syndrome:clinical findings,genetic causes and therapeutic approach

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World Journal of Pediatrics 2021年第1期17卷 31-39页

作者： flavia cristina carvalho mrad Sílvia Bouissou Morais Soares Luiz Alberto Wanderley de Menezes Silva Pedro Versiani dos Anjos Menezes Ana cristina Simoes-e-Silva Interdisciplinary Laboratory of Medical Investigation Faculty of MedicineFederal University of Minas Gerais(UFMG)Av.Alfredo Balena190Room#281Belo HorizonteMG 30130-100Brazil Pediatric Nephrology Unit Faculty of MedicineUFMGBelo HorizonteBrazil

Backgound Bartter's syndrome(BS)is a rare group of salt losing tubulopathies due to the impairment of transport mecha-nisms at the thick ascending limb of the Henle's *** sources Literature reviews and original research articles were collected from database,including PubMed and *** According to the time of onset and symptoms,BS can be classified into antenatal and classic *** studies have identified different subtypes of *** types Ⅰ,Ⅱ and Ⅲ are caused by mutations on genes encoding the luminal Na^(+)-K^(+)-2Cl^(-) co-transporter,the luminal K+ channel ROMK,and the basolateral chloride channel ClC-Kb(CLCNKB),***-of-function mutations of Barttin CLCNK type accessory beta subunit cause BS type Ⅳ*** mutations of CLCNKB and CLCNKA cause BS type Ⅳ*** type Ⅴ consists in a novel transient form characterized by antenatal presentation due to mutations in the MAGE family member *** gain-of-function mutations of the extracellular calcium sensing receptor gene can result in an autosomal dominant condition of *** clinical and biochemical alterations in BS include polyuria,dehydration,hypokalemia,hypochloremic metabolic alka-losis,hyperreninemia,high levels of prostaglandins,normal or low blood pressure,hypercalciuria and failure to *** focuses mainly at correcting dehydration and electrolyte disturbances and in measures to reduce polyuria,including the use of nonsteroidal anti-inflammatory medications to control excessive renal prostaglandin E2 *** Early diagnosis and treatment of BS may prevent long-term consequences such as growth failure,nephrocal-cinosis and end-stage renal disease.

关键词： Bartter's syndrome Hypercalciuria Hypokalemia Metabolic alkalosis Nephrocalcinosis

Cerium alleviates drought-induced stress in Phaseolus vulgaris

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Journal of Rare Earths 2020年第3期38卷 324-331页

作者： Olívia Graziela Gelioli Salgado Jéssica cristina Teodoro Joyce Pereira Alvarenga Cynthia de Oliveira Teotonio Soares de carvalho Débora Domiciano Paulo Eduardo Ribeiro Marchiori Luiz Roberto Guimaraes Guilherme department of Soil Science Federal University of LavrasCP 3037Campus UFLALavras37200-000Brazil department of Biology Federal University of LavrasCP 3037Campus UFLALavras37200-000Brazil

Extreme drought events are expected to be one of the main challenges for tropical agriculture and,consequently,for global food *** this reason,it is urgent to develop strategies to increase water use efficiency,as well as to increase crops’ ability to cope with *** rare earth elements(REEs) are known to alleviate damages in plants under abiotic stresses,we hypothesized that addition of Ce^3+to nutrient solution would promote the growth of common bean,especially under simulated drought *** test this hypothesis,we conducted an experiment evaluating the effect of six Ce^3+concentrations on the development and physiological traits of common bean grown in nutrient solution under normal condition and under induced drought stress,caused by the addition of polyethylene glycol6000 to the nutrient *** results show that Ce^3+alleviates water stress in common bean plants,increasing their survival rate and *** addition,Ce^3+application increases photosynthesis rate,chlorophyll content and water use efficiency under water ***,we observe no significant effect of Ce^3+on plants growing under normal ***,Ce3+seems to be a promising attenuator of drought stress for common bean.

关键词： Water stress Polyethylene glycol Rare earth elements Cerium nitrate Mitigation Common bean

Fraud investigation in commercial coffee by chromatography

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Food Quality and Safety 2018年第3期2卷 121-133页

作者： Víctor de carvalho Martins Ronoel Luiz de Oliveira Godoy Ana cristina Miranda Senna Gouvêa Manuela cristina Pessanha de Araujo Santiago Renata Galhardo Borguini Elaine cristina de Oliveira Braga Sidney Pacheco Luzimar da Silva de Mattos do Nascimento departamento de Tecnologia de Alimentos Instituto de TecnologiaUniversidade Federal Rural do Rio de JaneiroCEP 23890-000Seropédica-RJBrazil Laboratório de Cromatografia Líquida Embrapa Agroindústria de AlimentosCEP 23020-470Rio de Janeiro-RJBrazil Centro de Tecnologia Instituto de QuímicaUniversidade Federal do Rio de JaneiroCEP 22290-180Rio de Janeiro-RJBrazil

Coffee is currently the second largest commodity on the world market today,and there is great concern about the quality of the beans exported from producer countries to Europe and *** such as using blends of different species and adding low-cost raw materials,such as chicory,corn,and soybean,impair the sensory and functional characteristics of the drink made from roasted and ground coffee *** is a need to adopt more efficient analytical methods than the microscopy technique currently *** first chromatographic method used to determine fraud was reported in *** method used paper chromatography to differentiate between coffee and chicory based on the free reducing *** of the 1980s,different methods involving high-performance liquid chromatography and gas chromatography were developed in order to demonstrate geographic authenticity,distinction between species,occurrence of adulteration,and the presence of defective beans by determining the monosaccharides,oligosaccharides,tocopherols,fatty acids,volatiles,diterpenes,sterols,and phenolic substances,among *** far as the authors know,there are no papers published in the literature that have compiled such an extensive set of information about these chromatographic methods as *** the last 2 years,there has been a trend to develop analytical methods for ultra-performance liquid chromatography coupled with tandem mass spectrometry to confirm fraud in coffee,due to high sensitivity and selectivity.

关键词： adulteration coffee chromatographic methods carbohydrates volatile substances

dectin- 1 isoforms contribute to distinct Th 1/Th 17 cell activation in mucosal candidiasis

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Cellular & Molecular Immunology 2012年第3期9卷 276-286页

作者： Agostinho carvalho Gloria Giovannini AntoneUa de Luca Carmen D＇Angelo Andrea Casagrande Rossana G Iannitti Giovanni Ricci cristina Cunha Luigina Romani department of Experimental Medicine and Biochemical Sciences University of Perugia Perugia Italy Life and Health Sciences Research Institute （ICVS） School of Health Sciences University of Minho Braga Portugal CVS/3B＇s--PT Government Associate Laboratory Braga/Guimaraes Portugal

The recognition of p-glucans by dectin-1 has been shown to mediate cell activation, cytokine production and a variety of antifungal responses. Here, we report that the functional activity of dectin-1 in mucosal immunity to Candida albicans is influenced by the genetic background of the host. dectin-1 was required for the proper control of gastrointestinal and vaginal candidiasis in C57BIJ6, but not BALB/c mice; in fact, the latter showed increased resistance in the absence of dectin-1. The susceptibility of dectin-l-deficient C57BL/6 mice to infection was associated with defects in IL-17A and aryl hydrocarbon receptor-dependent IL-22 production and in adaptive Th I responses. In contrast, the resistance of dectin- 1-deficient BALB/c mice was associated with increased IL-17A and IL-22 production and the skewing towards Thl/Treg immune responses that provide immunological memory. Disparate canonical/ noncanonical NF-KB signaling pathways downstream of dectin-1 were activated in the two different mouse strains. Thus, the net activity of dectin-1 in antifungal mucosal immunity is dependent on the host＇s genetic background, which affects both the innate cytokine production and the adaptive Th1/Th17 cell activation upon dectin-1 signaling.

关键词： dectin-1 Mucosal candidiasis, Th1/Th17, 11-22, genetic background

New approach for obtaining the C-factor of RUSLE considering the seasonal effect of rainfalls on vegetation cover

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International Soil and Water Conservation Research 2021年第2期9卷 207-216页

作者： Pietro Menezes Sanchez Macedo Paulo Tarso Sanches Oliveira Mauro Antonio Homem Antunes Valdemir Lucio Durigon Elaine cristina Cardoso Fidalgo Daniel Fonseca de carvalho Agronomy-Soil Science Post Graduate Program Federal Rural University of Rio de JaneiroBR 465km 723897-000SeropedicaRJBrazil Federal University of Mato Grosso do Sul CxP.549Campo GrandeMS79070-900Brazil Federal Rural University of Rio de Janeiro Engineering DepartmentBR 465km 723897-000SeropedicaRJBrazil Technical College of the Federal Rural University of Rio de Janeiro BR 465km 723897-000SeropedicaRJBrazil National Center for Soil Research Brazilian Agricultural Research CorporationRio de JaneiroBrazil

We present a new approach for calculating the C-factor of RUSLE considering the effect of low-reflectance vegetation cover areas on the reduction of the effects on erosion caused by rainfall *** this,we propose the coefficients Cr2(rescaled 2)and C-PC(Precipitation Correction),which represent the Cfactor,and an adaptation in NDVI calculation,according to the seasonality of precipitation(NDVI-PC).The Cr2 factor is used when there is no seasonal effect of rainfall on vegetation,while the C-PC factor is calculated for localities under the influence of seasonality,from *** proposed approaches were tested using different satellites images in the Palmares-Ribeir~ao do Saco watershed,Rio de Janeiro,*** values of Cr2 and C-PC factors were compared to the Cr factor(rescaled)and to mean values from the literature for different land *** results indicated that the Cr2 factor represents an improvement in accuracy in relation to Cr by considering specific values of the studied area to normalize the data without ***,the C-PC factor is able to simulate the effect of seasonality,providing more realistics values of soil loss by the RUSLE as a function of the proportion of area affected by the rainfall seasonality obtained from *** conclude that both Cr2 and C-PC factors generate values similar of the C-factor observed in the literature,and therefore are able to provide better soil loss estimation than that using the Cr factor.

关键词： Soil erosion Land cover Soil use and management factor Vegetation seasonality NDVI

Non-hematopoietic cells contribute to protective tolerance to Aspergillus fumigatus via a TRIF pathway converging on IDO

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Cellular & Molecular Immunology 2010年第6期7卷 459-470页

作者： Antonella de Luca Silvia Bozza Teresa Zelante Silvia Zagarella Carmen D’Angelo Katia Perruccio Carmine Vacca Agostinho carvalho cristina Cunha Franco Aversa Luigina Romani department of Experimental Medicine and Biochemical Sciences University of PerugiaPerugiaItaly Life and Health Sciences Research Institute(ICVS) School of Health SciencesUniversity of MinhoBragaPortugal

Innate responses combine with adaptive immunity to generate the most effective form of anti-Aspergillus immune *** the pivotal role of dendritic cells in determining the balance between immunopathology and protective immunity to the fungus is well established,we determined that epithelial cells(ECs)also contributes to this ***,EC-mediated protection occurred through a Toll-like receptor 3/Toll/IL-1 receptor domain-containing adaptor-inducing interferon(TLR3/TRIF)-dependent pathway converging on indoleamine 2,3-dioxygenase(IDO)via non-canonical nuclear factor-kB *** with the high susceptibility of TRIF-deficient mice to pulmonary aspergillosis,bone marrow chimeric mice with TRIF unresponsive ECs exhibited higher fungal burdens and inflammatory pathology than control mice,underexpressed the IDO-dependent T helper 1/regulatory T cell(Th1/Treg)pathway and overexpressed the Th17 pathway with massive neutrophilic inflammation in the *** studies with interferon(IFN)-c,IDO or IL-17R unresponsive cells confirmed the dependency of immune tolerance to the fungus on the IFN-c/IDO/Treg pathway and of immune resistance on the MyD88 pathway controlling the fungal ***,distinct immune pathways contribute to resistance and tolerance to the fungus,to which the hematopoietic/non-hematopoietic compartments contribute through distinct,yet complementary,roles.

关键词： aspergillosis epithelial cells IDO Th17/Treg transplantation tolerance

Prevalence of Human Leukocyte Antigen HLA-B*5701 in HIV-1 Infected Individuals in Brazil

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Open Journal of Genetics 2014年第1期4卷 56-62页

作者： Claudinéia de Araújo cristina Valetta de carvalho Miriam Estela de Souza Freire Amanda Yamaguti Ivens Cuiabano Scaff Fernando José de Souza flávia Galindo Silvestre Silva Ricardo Sobhie Diaz Ismael Dale Cotrim Guerreiro da Silva department of Gynecology Molecular Gynecology Laboratory Federal University of S&atildeo Paulo S&atildeo Paulo Brazil State department of Health of Mato Grosso Cuiabá Brazil Unirondon University Cuiabá Brazil Infectious Diseases Division Federal University of Mato Grosso Cuiabá Brazil Imunogenetics Laboratory General University Hospital Cuiabá Brazil

This study was designed to establish the prevalence of HLA-B*5701 at HIV-1 infected individuals in Brazil. A total of 517 consecutive individuals were followed in this study from February 2009 through July 2011. The presence of HLA-B*5701 was determined by Nested-PCR with HLA-B*57 and HLA-B*5701 sequence-specific primers (PCR-SSP). The expression of HLA-B*57 was negative in the 385 (74.5%) and positive in the 103 (19.9%) of infected individuals. Among these, the expression of HLA-B5701 was positive in the 29 (5.6%) of individuals. No demographic or ethnic differences were found between HLA-B*57/HLA-B*5701 HIV-1 negative patients, with a prevalence of Caucasians (57.1%) individuals. During the period of study, 68 patients were submited to an abacavir contain- ing regimen. The HLA-B*5701 allele was observed in 7 (10.3%) patients, with a significant incidence of Hypersensitivity reactions at 4 of them (p < 0.001). Conclusions: Although Brazilian population consists of a mixture of individuals of Caucasian, African and Native American genetic background, prevalence of HLA-B*5701 in this population is similar to the one found in pure Caucasians.

关键词： Immunogenetics Human Immunodeficiency Virus HLA-B*5701 Antigen Human Abacavir

Role of lysophosphatidic acid and its receptors in health and disease:novel therapeutic strategies

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Signal Transduction and Targeted Therapy 2021年第3期6卷 630-647页

作者： Luiz Henrique Medeiros Geraldo Tania cristina Leite de Sampaio Spohr Rackele Ferreira do Amaral Anna Carolina carvalho da Fonseca Celina Garcia Fabio de Almeida Mendes Catarina Freitas Marcos Fabio dosSantos flavia Regina Souza Lima Institute de Ciencias BiomedicasUniversidade Federal do Rio de JaneiroRio de JaneiroBrazil Universite de Paris PARCCINSERMF-75015 ParisFrance Institute Estadual do Cerebro Paulo Niemeyer-Secretaria de Estado de Saude Rio de JaneiroBrazil Instituto de Saiide de Nova Friburgo Universidade Federal Fluminense28625-650 Nova FriburgoBrazil

Lysophosphatidic acid(LPA)is an abundant,bioactive phospholipid,with multiple functions both in development and in pathological ***,we review the literature about the differential signaling of LPA through its specific receptors,which makes this lipid a versatile signaling *** differential signaling is important for understanding how this molecule can have such diverse effects during central nervous system development and angiogenesis;and also,how it can act as a powerful mediator of pathological conditions,such as neuropathic pain,neurodegenerative diseases,and cancer ***,we review the preclinical and clinical uses of Autotaxin,LPA,and its receptors as therapeutic targets,approaching the most recent data of promising molecules modulating both LPA production and *** review aims to summarize the most update knowledge about the mechanisms of LPA production and signaling in order to understand its biological functions in the central nervous system both in health and disease.

关键词： therapeutic clinical diseases

Cytotoxic T lymphocyte antigen-4 gene polymorphisms and susceptibility to type 1 autoimmune hepatitis in the Tunisian population

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Genes & Diseases 2018年第3期5卷 256-262页

作者： Marwa Chaouali Agostinho carvalho Aymen Tezeghdenti Mouna Ben Azaiez cristina Cunha Ezzeddine Ghazouani Radhia Kochkar department of Immunology Military Hospital of TunisMontfleury 1008TunisTunisia El Manar University Laboratory of MycologyPathologies and Biomarkers 1092TunisTunisia Life and Health Sciences Research Institute(ICVS) School of MedicineUniversity of MinhoCampus de Gualtar 4710-057BragaPortugal ICVS/3B’s-PT Government Associate Laboratory Braga/Guimara˜esPortugal

Genetic factors and gene polymorphisms leading to the onset of autoimmune response in autoimmune hepatitis(AIH)are still not full *** the CTLA-4 molecule is a key modulator of the lymphocytes responses we hypothezied that deficiencies or mutations in the gene encoding CTLA4 protein may be involved in AIH susceptibility and trigger the autoimmune *** investigated 3 distinct polymorphic sites(t49A>G,CT60 G>A and e318C>T)of the CTLA4 gene in 50 AIH patients and 100 healthy controls using the KASP genotyping technology.A significant positive association with AIH susceptibility was found for the GG genotype in t49 position of the CTLA4 gene which was significantly higher in AIH patients compared to controls(28%vs 9%,pZ0.003,ORZ3.93[1.56e9.88]).The CTLA4 A/A genotype in position CT60 was more significantly frequent in controls comparing to AIH patients and could be considered as a protective genotype for the tunisian ***4 genotyping in position318 did not show any statistically significant difference in genotype or allele *** CTLA4 gene polymorphism in position t49 is associated to AIH susceptibility in the Tunisian *** in the CTLA4 gene may lead to a modification of the CTLA4 protein structure that could have functional relevance in AIH pathogenesis and onset.

关键词： Autoimmune hepatitis CTLA4 gene polymorphisms Cytotoxic Tlymphocyte antigen 4