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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

High prevalence of occult hepatitis C infection in predialysis patients

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World Journal of Hepatology 2019年第1期11卷 109-118页

作者： Luís Henrique Bezerra Cavalcanti sette edmundo Pessoa de Almeida Lopes Nathália Campello Guedes dos anjos Lucila Maria Valente sávio Augusto Vieira de Oliveira Norma Lucena-silva Nephrology-Department of Clinical Medicine Federal University of Pernambuco Gastroenterology-Department of Clinical Medicine Federal University of Pernambuco Laboratory of Immunogenetics of the Aggeu Magalh?es Institute - Fiocruz Pernambuco

BACKGROUND Occult hepatitis C virus(HCV) infection(OCI) may be associated with extrahepatic diseases and it is known that the patients with chronic kidney disease(CKD) who are on hemodialysis(HD) present a higher prevalence of this type of infection than the general population, with a worse clinical ***, there are no data in the literature to assess the presence of OCI in patients prior to the initiation of renal replacement therapy(RRT). Therefore, this study aimed to evaluate the occurrence and epidemiological aspects of OCI in patients with Predialysis CKD. We hypothesize that this infection could occur before RRT *** To research the status in predialysis patients when HD patients have high prevalence of *** A cross-sectional study was conducted between 2015 and 2017. Adults with creatinine clearance edialysis patients) were recruited to the study. Pregnant and postpartum women, patients with glomerulopathies,and patients showing positivity for serological markers of hepatitis B virus(HBV), HCV or human immunodeficiency virus infection were excluded. Patients were diagnosed with OCI according to test results of anti-HCV antibody negativity and HCV RNA positivity in either ultracentrifuged serum or, if serumnegative, in peripheral blood mononuclear *** Among the 91 total patients included in the study, the prevalence of OCI was 16.5%. Among these 15 total OCI patients, 1 was diagnosed by 14 ultracentrifuged serum results and 14 were diagnosed by peripheral blood mononuclear cell results. Compared to the non-OCI group, the OCI patients presented higher frequency of older age(P = 0.002), patients with CKD of mixed etiology(P = 0.019), and patients with markers of previous HBV infection(i.e.,combined positivity for anti-hepatitis B core protein antibody and anti-hepatitis B surface protein antibody)(P = 0.001).CONCLUsION Among predialysis patients, OCI involved the elderly, patients with CKD of mixed eti

关键词： Occult hepatitis infection Chronic hepatitis C Chronic kidney disease Hemodialysis Hepatitis C virus-RNA Peripheral blood mononuclear cells

Multiomic investigation of sugarcane mosaic virus resistance in sugarcane

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The Crop Journal 2023年第6期11卷 1805-1815页

作者： Ricardo JoséGonzaga Pimenta Alexandre Hild Aono Roberto Carlos Villavicencio Burbano Marcel Fernando da silva Ivan Antônio dos anjos Marcos Guimarães de Andrade Landell Marcos Cesar Gonçalves Luciana Rossini Pinto Anete Pereira de souza Centre for Molecular Biology and Genetic engineering University of CampinasCampinasBrazil Gustavo Galindo Velasco Campus Littoral Polytechnic Superior SchoolGuayaquilEcuador Advanced Centre for Technological Research in sugarcane Agribusiness Agronomic Institute of CampinasRibeirão PretoBrazil Plant Protection Research Centre Biological InstituteSão PauloBrazil Department of Plant Biology Institute of BiologyUniversity of CampinasCampinasBrazil

sugarcane mosaic virus(sCMV)is the main etiological agent of sugarcane mosaic disease,which affects sugarcane and other grass *** the extensive characterization of quantitative trait loci controlling resistance to sCMV in maize,the genetic basis of this trait in sugarcane is largely ***,a genome-wide association study was performed and machine learning coupled with feature selection was used for genomic prediction of resistance to sCMV in a diverse sugarcane *** single-nucleotide polymorphisms(sNPs)explained up to 29.9%of the observed phenotypic variance and a 73-sNP set predicted resistance with high accuracy,precision,recall,and F1 scores(the harmonic mean of precision and recall).Both marker sets were validated in additional sugarcane genotypes,in which the sNPs explained up to 23.6%of the phenotypic variation and predicted resistance with a maximum accuracy of 69.1%.synteny analyses suggested that the gene responsible for the majority of sCMV resistance in maize is absent in sugarcane,explaining why this major resistance source has not been identified in this ***,using sugarcane RNA-seq data,markers associated with resistance to sCMV were annotated,and a gene coexpression network was constructed to identify the predicted biological processes involved in *** network allowed the identification of candidate resistance genes and confirmed the involvement of stress responses,photosynthesis,and the regulation of transcription and translation in resistance to *** results provide a practical marker-assisted breeding approach for sugarcane and identify target genes for future studies of sCMV resistance.

关键词： saccharum sCMV GWAs Machine learning RNA-seq

Complications of surgical Treatment of Anterior shoulder Dislocation:A systematic Review

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Open Journal of Orthopedics 2017年第9期7卷 241-253页

作者： Walter Hugo Brandao Nascimento Lailson Oliveira de Castro Liwerbeth dos anjos Pereira Joao Paulo Pimentel de sousa Paulo Renan Matos sucupira Cunha Rodrigo Martins silva Caetano Resident Physician in Orthopedics and Traumatology University Hospital of the Universidade Federal do MaranhaoSao LuísBrazil scholarship Holder Conselho Nacional de Desenvolvimento Cientifico e Tecnologico(CNPq)Sao LuisBrazil Preceptor of the Medical Residency in Orthopedics and Traumatology University Hospital of the Universidade Federal do MaranhaoSao LuisBrazil

Introduction: shoulder joint has the greatest range of motion in the human body. The shoulder anatomy promotes high mobility and favors relative sacrifice of articular stability, making it susceptible and more prone to events of instability and dislocation. This review aimed at identifying main complications of surgical treatment of anterior shoulder dislocation. Methodology: This systematic review was conducted according to the International Preferred Reporting Items for systematic Reviews and Meta-Analyzes (PRIsMA) guidelines. studies which were eligible for this systematic review included: english or spanish language, studies published from 2000, which mentioned surgical complications of anterior shoulder dislocation in their results, both in open and arthroscopic surgery. Included studies which were required to have at least 1 complication following surgical repair. Only studies from original data were included. Results: We found 228 potentially eligible studies for the survey. Through the inclusion and exclusion criteria and after consensus among reviewers, we chose 9 studies to compose the systematic review. Conclusion: Important information emerges: recurring instability, recurring dislocation, external rotation limitation and arthritis are main surgical complications of anterior shoulder dislocation.

关键词： surgical Complications Anterior shoulder Dislocation and Recurrences

Identification of a Target Region for specific Molecular Diagnosis of Human Papillomavirus subtype 16

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Journal of Pharmacy and Pharmacology 2019年第11期7卷 557-563页

作者： Ketly Rodrigues Barbosa dos anjos Anderson Alves da silva Bezerra Ana Lisa do Vale Gomes Academic Center of Vitoria Department of Nursing Federal University of Pernambuco Victory of Saint Antao 55608-250 Brazil Academic Center of Vitoria Department of Physical Education and Sport Federal University of Pernambuco Victory of Saint Antao 55608-250 Brazil

Objective: To identify a target region for molecular diagnosis from the e6 region of the Human papillomavirus (HPV). Method: This was a quantitative data research. The sample was composed of sequences from the National Center for Biotechnology Information (NCBI), HPV subtype 16, e6 region, using the following search filters: viruses, genomic DNA/RNA. 3227 sequences were obtained, which were separated according to the country of origin. After selection, the total number of samples consisted of 22 sequences that were aligned in the Clustal/o program, available on the online platform at: https://***/Tools/msa/clustalo/ and reading it through the Jalview program to identify consensus regions. For the primer design, the FastPCR program was used and the data were attached to a spreadsheet in Microsoft excel 2010. Results: The consensus sequence among the countries was selected according to the consensus region for the primer design, called the target region, with 95 nucleotides. FastPCR analyzed the sequence and defined 10 pairs of primers, 5 forward and 5 reverse. The primers were selected according to the percentage CG/AT ratio (50%-60%) and the specific temperature of 58 °C, resulting in 3 primer pairs. The pairs were analyzed in the BLAsT program, obtaining a 100% identification and query score, identifying other sequences of HPV 16, region e6. Conclusion: The use of a primer with greater specificity will lead to the specific diagnosis of the virus, making possible the early diagnosis and the most effective treatment.

关键词： Papillomaviridae polymerase chain reaction computational biology