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Chromosomal Alterations in Patients with Alzheimer Disease in Manaus,Amazonas,Brazil

Journal of Pharmacy and Pharmacology 2019年第8期7卷 451-458页

作者： Cleiton Fantin Kledson Moraes Nunes Ernanda Raquel de Queirós Goncalves de Sousa e Fernandes Diana Vieira Brito Natalia Dayane Moura Carvalho Denise corrêa Benzaquem Laboratório de Citogenética Escola Superior de Ciências da SaúdeUniversidade do Estado do AmazonasManausAmazonas 69065-001Brazil Laboratório de Análises Clínicas do Hospital Universitário Getúlio Vargas–HUGV ManausAmazonas 69020-170Brasil Secretaria Municipal de Saúde SEMSAManausAmazonas 69057-000Brasil

Alzheimer disease(AD)is a complex neurodegenerative pathology that is characterized by a cognitive *** causes and mechanisms are still largely *** has been suggested that both genetic and life exposure factors can contribute to AD *** are also evidences that chromosomal alterations can be related to this *** far,there is not a precise diagnosis for AD,which is given only after the exclusion of other dementia by clinical and neurological *** possible association of AD with chromosomal alterations and the easy access of classical cytogenetics analysis are important aspects to consider,given the difficulties in *** to the lack of similar studies in Brazil and the increasing number of AD cases in the state of Amazonas,the aim of this study was to investigate the presence of chromosomal alterations in patients diagnosed with AD in Manaus,Amazonas,*** blood lymphocytes of twelve patients and twelve healthy individuals with the same age were analyzed using conventional *** AD patients presented cells with autosomal aneuploidy,while no chromosomal alterations were found in the age-matched ***,rare events of double and multiple aneuploidies are being reported in association with AD for the first *** results corroborate that the increase in the frequencies of aneuploidies is not related to the aging process itself,but it might be associated to the disease ***,no chromosomes were preferentially affected in all AD patients,and no consistent karyotype pattern for AD lymphocytes was ***,our results do not support the use of standard cytogenetics as a tool for AD *** studies are necessary to understand better the association between chromosomal alterations and AD.

关键词： AD karyotyping numeric chromosomal alterations double aneuploidies multiple aneuploidies

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Predictors of surgical complications in boys with hypospadias:data from an international registry

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World Journal of Pediatric Surgery 2023年第4期6卷 217-223页

作者： Kathryn Scougall Jillian Bryce Federico Baronio Rachel L Boal Jose Roberto Castera Sebastián Castro Tim Cheetham Eduardo correa Costa Feyza Darendeliler Justin H Davies Mirjam Dirlewanger Gabriella Gazdagh Evgenia Globa Gil Guerra-Junior Tulay Guran Gloria Herrmann Paul-Martin Holterhus Ahsen KaragözlüAkgül Renata Markosyan Kenneth McElreavey Marcio Lopes Miranda Anna Nordenstrom Stuart O’Toole Sukran Poyrazoglu Gianni Russo Valerie Schwitzgebel Marianna Stancampiano Michael Steigert S Faisal Ahmed Angela K Lucas-Herald University of Glasgow GlasgowUK IRCCS Azienda Ospedaliero-Universitaria di Bologna Policlinico S Orsola BolognaItaly Great North Children's Hospital Newcastle Upon TyneUK Hospital de Ninos Ricardo Gutiérrez Buenos AiresArgentina Hospital de Clinicas de Porto Alegre Porto AlegreBrazil Istanbul University IstanbulTurkey Southampton Children's Hospital SouthamptonUK University Hospital of Geneva GenevaSwitzerland Ukrainian Research Center of Endocrine Surgery Endocrine Organs and Tissue Transplantation KyivUkraine State University of Campinas CampinasBrazil Marmara University IstanbulTurkey University Medical Centre UlmGermany University Hospital of Schleswig-Holstein Campus Kiel/Christian-Albrechts-University of Kiel KielGermany Marmara University Faculty of Medicine IstanbulTurkey Yerevan State Medical University Endocrinology Clinic YerevanArmenia Institut Pasteur ParisFrance Karolinska University Hospital StockholmSweden Royal Hospital for Children GlasgowUK IRCCS Ospedale San Raffaele MilanoItaly Graubunden Cantonal Hospital ChurSwitzerland

Background Complications are frequently reported after hypospadias repair and there is a need to understand the factors that influence their *** Data from boys with hypospadias born between 2000 and 2020 were obtained from the International Disorders of Sex Development(l-DSD)*** regressions,fisher's exact tests and spearman's correlation tests were performed on the data to assess associations between clinical factors and complication *** Of the 551 eligible boys,data were available on 160(29%).Within the cohort,the median(range)External Masculinization Score(EMS)was 6(2,9).All presented with one or more additional genital malformation and 61(38%)presented with additional extragenital *** of androgen action,androgen synthesis and gonadal development were diagnosed in 28(18%),22(14%)and 9(6%)boys,*** remaining 101(62%)patients were diagnosedas having non-specific 46,XY Disorders of Sex ***(50%)boys had evidence of abnormal biochemistry,and gene variants were identified in 42(26%).Median age at first hypospadias surgery was 2 years(0,9),and median length of follow-up was 5 years(0,17).Postsurgical complications were noted in 102(64%)*** were no significant associations with postsurgical *** Boys with proximal hypospadias in the I-DSD Registry have high rates of additional comorbidities and a high risk of postoperative *** clinical factors were significantly associated with complication *** complication rates with no observable cause suggest the involvement of other factors which need investigation.

关键词： complications surgical involvement

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Evaluation of Different Levels of Addition of Souari Nut Peel (Caryocar brasiliense) on the Quality of the Mombasa Grass Silage

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Journal of Agricultural Science and Technology(B) 2019年第5期9卷 356-364页

作者： Raísa Turcato de Oliveira Andréia Santos Cezário Wallacy Barbacena Rosa dos Santos Jéferson corrêa Ribeiro Tiago Neves Pereira Valente Hellen Cardoso de Oliveira Departament of Animal Science Instituto Federal Goiano(IFGoiano)Campus Morrinhos75650-000Goiás StateBrasil Department of Animal Science Instituto Federal Goiano(IFGoiano)Campus Posse73900-000Goiás StateBrasil

The objective of this study was to evaluate the effects of the addition of souari nut peel on the fermentative characteristics and chemical composition of the Mombasa grass silage.A completely randomized design with five levels of addition(0%,5%,10%,15%and 20%in natural matter basis)of souari nut peel with three replicates was applied in the *** silos were opened at 55 d after starting the ensiling *** data were analyzed by means of linear/quadratic regression analysis,according to the best fit of the data and the probability values to 5%,using the Statistical Analysis System(SAS,2002).There were a linear decreasing effect on the neutral detergent fiber(NDF),ash and increasing values for the effluent in the *** effect was observed for crude protein(CP),lignin and *** the other factors dry matter(DM),acid detergent fiber(ADF)and gases there was no influence on the addition of souari nut *** 15%addition level of souari nut peel increased CP content,decreased NDF and pH,which was recommended to improve the fermentation profile of Mombasa grass silage.

关键词： Additive effluent production fermentation quality

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Descriptive Study:Congenital Malformations in Pediatric Patients of a Public Maternity Hospital of the City of Manaus,Amazonas

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Journal of Pharmacy and Pharmacology 2019年第4期7卷 198-206页

作者： Cleiton Fantin Denise corrêa Benzaquem Marcelo Lasmar Santos Carlos Augusto da Silva Araújo Júnior Lilian Barroso Carvalho Natanael Martins Gomes Larissa Nascimento Souza Gabriela Bentes Sousa Laboratory of Cytogenetics State University of Amazonas Manaus Amazonas Brazil

The Pan American Health Organization(PAHO)defines congenital malformation as any functional or structural anomaly in the development of the fetus,due to factors originating before birth,whether genetic,environmental or *** aim of the present study was to identify the frequency of malformations,the type of congenital malformations and to correlate this with risk factors in live-born infants,using SLB *** data were collected through consultation of the medical records of live-born infants of the Balbina Mestrinho Maternity Hospital,15,621 live births were reported,of which 248(1.58%)presented congenital *** was a higher prevalence of malformations among live-born males(49.7%),with Apgar≥7 at the first and fifth minute,gestational age ranging from 37-41 weeks,with 46%being born with appropriate weight between 3,000-4,000 *** association of two or more defects was observed in 38.7%of the total cases and isolated anomalies in 67.3%,with predominance of alterations of the digestive system(26.3%),followed by malformations of the musculoskeletal system(21.2%),nervous system(20.2%)and cleft lip/cleft palate(9.1%).The results presented here may guide strategic actions to improve care for families of people with congenital malformations.

关键词： Congenital abnormalities epidemiological inquiry prevalence newborn

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Postpartum depression:A systematic review of the genetics involved

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World Journal of Psychiatry 2015年第1期5卷 103-111页

作者： Tiago Castro e Couto Mayra Yara Martins Brancaglion António Alvim-Soares Lafaiete Moreira Frederico Duarte Garcia Rodrigo Nicolato Humberto corrêa Regina Amélia Lopes P Aguiar Henrique Vitor Leite Postgraduate Program in Molecular Medicine School of MedicineUniversidade Federal de Minas Gerais Department of Mental Health School of MedicineUniversidade Federal de Minas Gerais Department of Obstetrics and Gynecology School of MedicineUniversidade Federal de Minas Gerais

Postpartum depression is one of the most prevalent psychopathologies. Its prevalence is estimated to be between 10% and 15%. Despite its multifactorial etiology, it is known that genetics play an important role in the genesis of this disorder. This paper reviews epidemiological evidence supporting the role of genetics in postpartum depression(PPD). The main objectives of this review are to determine which genes and polymorphisms are associated with PPD and discuss how this association may occur. In addition, this paper explores whether these genes are somehow related to or even the same as those linked to Major Depression(MD). To identify gaps in the current knowledge that require investigation, a systematic review was conducted in the electronic databases Pub Med, LILACS and Sci ELO using the index terms "postpartum depression" and "genetics". Literature searches for articles in peerreviewed journals were made until April 2014. PPD was indexed 56 times with genetics. The inclusion criteria were articles in Portuguese, Spanish or English that were available by institutional means or sent by authors upon request; this search resulted in 20 papers. Genes and polymorphisms traditionally related to MD, which are those involved in the serotonin, catecholamine, brain-derived neurotrophic factor and tryptophan metabolism, have been the most studied, and some have been related to PPD. The results are conflicting and some depend on epigenetics, which makes the data incipient. Further studies are required to determine the genes that are involved in PPD and establish the nature of the relationship between these genes and PPD.

关键词： Genetics Single nucleotide polymorphisms Molecular Postpartum depression Genes

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Residual Feed Intake as a Measure to Select Genetically Productive Beef Cattle: A Review

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Journal of Agricultural Science and Technology(B) 2020年第2期10卷 118-123页

作者： Tiago Neves Pereira Valente Andréia Santos Cezário Wallacy Barbacena Rosa dos Santos Jeferson corrêa Ribeiro Eliandra Maria Bianchini Oliveira Erico da Silva Lima Bruno Borges Deminicis Thasia Martins Macedo Rogério de Carvalho Veloso Department of Animal Science Instituto Federal Goiano(IFGoiano)Campus PossePosse City73900-000Goiás StateBrasil Department of Animal Science Instituto Federal Goiano(IFGoiano)Campus MorrinhosMorrinhos City75650-000Goiás StateBrasil Department of Animal Science Faculdades Metropolitanas Unidas(FMU)São Paulo City05607-000São Paulo StateBrazil Department of Animal Science Federal University of Southern Bahia(UFSB-BA)Teixeira de Freitas City45613-204Bahia StateBrazil

Measures such as residual feed intake(RFI)have been increasingly considered to select cattle with superior feed efficiency,as it is a characteristic of feed efficiency calculated as the difference between observed intake and estimated intake considering metabolic weight and the weight *** feed intake is obtained through the multiple regression equation of observed consumption on metabolic mean live weight and weight *** standard was shared among animals into one herd selected for low RFI(high efficiency)and compared to the one selected for high RFI(low efficiency).There was no correlated response in weight per year and in weight gain,and the effectiveness of low RFI selection in reducing feed costs was proven without affecting ***,selection of animals with negative RFI is not done by selecting animals directly according to the size of the viscera,rather it is done indirectly,that is,when selecting the most efficient animals and normally these animals already have the smallest viscera *** RFI is a trait that presents genetic variability,selectable to improve and has moderate heritability,between 0.30 and *** RFI is important because it reduces the direct economic impacts of reduced feed intake,as well as the effects of environmental impact on reducing methane emissions from enteric fermentation of ruminants.

关键词： Feed conversion feed efficiency enteric fermentation

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