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Usher syndrome:Genetic diagnosis and current therapeutic approaches

World Journal of Otorhinolaryngology 2024年第1期11卷 1-17页

作者： beatriz rocha cuzzuol.jonathan s.ntos.apol.nio Ronaldo Teixeira da silva Júnior Lorena sousa de Carvalho Luana Kauany de sásantos Luciano Hasimoto Malheiro Marcel silva Luz Mariana santos Calmon Henrique de Lima Crivellaro Fabian Fellipe Bueno Lemos Fabrício Freire de Melo Instituto Multidisciplinar em saúde Universidade Federal da BahiaVitória da Conquista 45029-094BahiaBrazil

Usher syndrome(UsH)is the most common deaf-blind syndrome,affecting approximately 1 in 6000 people in the deaf *** genetic condition is characterized by a combination of hearing loss(HL),retinitis pigmentosa,and,in some cases,vestibular *** the subtypes of UsH,UsH type 1 is considered the most severe form,presenting profound bilateral congenital deafness,vestibular areflexia,and early onset *** type 2 is the most common form,exhibiting congenital moderate to severe HL for low frequencies and severe to profound HL for high ***,type 3 is the rarest,initially manifesting mild symptoms during childhood that become more prominent in the first decades of *** dual impact of UsH on both visual and auditory senses significantly impairs patients'quality of life,restricting their daily activities and interactions with *** date,9 genes have been confirmed so far for UsH:MYO7A,UsH1C,CDH23,PCDH15,UsH1G,UsH2A,ADGRV1,WHRN and *** genes are inherited in an autosomal recessive manner and encode proteins expressed in the inner ear and retina,leading to functional *** non-genetic methods can assist in patient triage and disease extension evaluation,genetic and molecular tests play a pivotal role in providing genetic counseling,enabling appropriate gene therapy,and facilitating timely cochlear implantation(CI).The CRIsPR/Cas9 system and viral-based gene replacement therapy have recently emerged as highly promising techniques for treating *** drug therapy,PTC-124 and Nb54 have been identified as promising drug interventions for genetic HL in ***,CI has proven to be critical in the restoration of *** review aims to summarize the genetic and molecular diagnosis of UsH and highlight the importance of early diagnosis in cuzzuol BR et *** and current treatments of UsH WJO https://*** 2 January 19,2024 Volume 11 Issue 1 guiding appropriate treatment strategies and i

关键词： Usher syndromes Hearing loss Retinitis pigmentosa Diagnosis Genetic therapies Cochlear implantation Quality of life

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syndemic aspects between COVID-19 pandemic and social inequalities

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World Journal of Methodology 2022年第5期12卷 350-364页

作者： jonathan s.ntos.apol.nio Ronaldo Teixeira da silva Júnior beatriz rocha cuzzuol Glauber rocha Lima Araújo Hanna santos Marques Isadora de souza Barcelos Luana Kauany de sásantos Luciano Hasimoto Malheiro Vinícius Lima de souza Gonçalves Fabrício Freire de Melo Universidade Federal da Bahia Instituto Multidisciplinar em SaúdeVitória da Conquista 45029-094BahiaBrazil Universidade Estadual do sudoeste da Bahia Campus Vitória da ConquistaVitória da Conquista 45083-900BahiaBrazil

Although the coronavirus disease 2019(COVID-19)pandemic has reached all over the world population,it has demonstrated a heterogeneous impact on different *** most vulnerable communities which coexist daily with the social inequalities like low access to hygiene and personal protection products,crowded residences,and higher levels of chronic diseases have a higher risk of contact and the spread of infection,beyond unfavorable clinical *** elevation of the risk of infection exposure can be related to gender due to the presence of a larger contingent of women in essential services,as well as frontline and cleaning professionals who regardless of gender have the greatest exposure to the *** exposures can contribute to the development of fear of contaminating themselves or their family members associated also with the work stress,both of which are related to the emergence of mental disturbances in these ***,conditions of unsanitary living and low socioeconomic status,populations at war,pre-existing social barriers,and ethnicity have contributed to more impact of the pandemic both in the exposure to the virus and access to health services,COVID-19 management,and management of other *** the same time,factors such as the closing of non-essential services,the loss of jobs,and the increase in household spending aggravated the social vulnerabilities and impacted the family ***,the COVID-19 pandemic contributed still more to the impact on women's health since it propitiated a favorable environment for increasing domestic violence rates,through the segregation of women from social life,and increasing the time of the victims with their aggressors.

关键词： COVID-19 Minority groups Pandemic social inequalities socioeconomic factors

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COVID-19 neuropsychiatric repercussions:Current evidence on the subject

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World Journal of Methodology 2022年第5期12卷 365-380页

作者： Ronaldo Teixeira da silva Júnior jonathan s.ntos.apol.nio beatriz rocha cuzzuol Bruna Teixeira da Costa Camilo santana silva Glauber rocha Lima Araújo Marcel silva Luz Hanna santos Marques Luana Kauany de sásantos samuel Luca rocha Pinheiro Vinícius Lima de souza Gonçalves Mariana santos Calmon Fabrício Freire de Melo Instituto Multidisciplinar em saúde Universidade Federal da BahiaVitória da Conquista 45029094Brazil Universidade Estadual do sudoeste da Bahia Universidade Estadual do Sudoeste da BahiaVitória da Conquista 45083900Brazil

severe acute respiratory syndrome coronavirus 2(sARs-CoV-2)infection has affected the entire world,causing the coronavirus disease 2019(COVID-19)pandemic since it was first discovered in Wuhan,China in December *** the clinical presentation of the disease,in addition to fever,fatigue,cough,dyspnea,diarrhea,nausea,vomiting,and abdominal pain,infected patients may also experience neurological and psychiatric repercussions during the course of the disease and as a post-COVID-19 ***,headache,dizziness,olfactory and gustatory dysfunction,cerebrovascular disorders,neuromuscular abnormalities,anxiety,depression,and post-traumatic stress disorder can occur both from the infection itself and from social distancing and *** to current evidence about this infection,the virus has the ability to infect the central nervous system(CNs)via angiotensin-converting enzyme 2(ACE2)receptors on host *** studies have shown the presence of ACE2 in nerve cells and nasal mucosa,as well as transmembrane serine protease 2,key points for interaction with the viral spike glycoprotein and entry into the CNs,being olfactory tract and blood-brain barrier,through hematogenous dissemination,potential ***,the presence of sARs-CoV-2 in the CNs supports the development of neuropsychiatric *** management of these manifestations seems more complex,given that the dense parenchyma and impermeability of brain tissue,despite protecting the brain from the infectious process,may hinder virus ***,some alternatives used in non-COVID-19 situations may lead to worse prognosis of acute respiratory syndrome,requiring ***,the aim of this review is to bring more current points related to this infection in the CNs,as well as the repercussions of the isolation involved by the pandemic and to present perspectives on interventions in this scenario.

关键词： sARs-CoV-2 COVID-19 Central nervous system Quarantine Neurologic disorders Mental disorders

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Chronic myeloid leukemia-from the Philadelphia chromosome to specific target drugs:A literature review

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World Journal of Clinical Oncology 2021年第2期12卷 69-94页

作者： Mariana Miranda sampaio Maria Luísa Cordeiro santos Hanna santos Marques Vinícius Lima de souza Gonçalves Glauber rocha Lima Araújo Luana Weber Lopes jonathan s.ntos.apol.nio Camilo santana silva Luana Kauany de sásantos beatriz rocha cuzzuol Quézia Estéfani silva Guimarães Mariana Novaes santos Breno Bittencourt de Brito Filipe Antônio França da silva Márcio Vasconcelos Oliveira Cláudio Lima souza Fabrício Freire de Melo Instituto Multidisciplinar em saúde Universidade Federal da BahiaVitória da Conquista 45029-094BahiaBrazil Campus Vitória da Conquista Universidade Estadual do Sudoeste da BahiaVitória da Conquista 45083-900BahiaBrazil

Chronic myeloid leukemia(CML)is a myeloproliferative neoplasm and was the first neoplastic disease associated with a well-defined genotypic anomaly―the presence of the Philadelphia *** advances in cytogenetic and molecular assays are of great importance to the diagnosis,prognosis,treatment,and monitoring of *** discovery of the breakpoint cluster region(BCR)-Abelson murine leukemia(ABL)1 fusion oncogene has revolutionized the treatment of CML patients by allowing the development of targeted drugs that inhibit the tyrosine kinase activity of the BCR-ABL *** kinase inhibitors(known as TKIs)are the standard therapy for CML and greatly increase the survival rates,despite adverse effects and the odds of residual disease after discontinuation of *** therapeutic alternatives,the subsequent TKIs lead to faster and deeper molecular remissions;however,with the emergence of resistance to these drugs,immunotherapy appears as an alternative,which may have a cure potential in these *** this background,this article aims at providing an overview on CML clinical management and a summary on the main targeted drugs available in that context.

关键词： Chronic myeloid leukemia Breakpoint cluster region-Abelson murine leukemia Immunotherapy Tyrosine kinase inhibitors Philadelphia chromosome Diagnosis

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Effects of nutrients on immunomodulation in patients with severe COVID-19:Current knowledge

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World Journal of Critical Care Medicine 2022年第4期11卷 201-218页

作者： Bruna Teixeira da Costa Glauber rocha Lima Araújo Ronaldo Teixeira da silva Júnior Luana Kauany de sásantos Vinícius Lima de souza Gonçalves Daniel Bastos Alves Lima beatriz rocha cuzzuol.jonathan s.ntos.apol.nio Lorena sousa de Carvalho Hanna santos Marques Camilo santana silva Isadora de souza Barcelos Márcio Vasconcelos Oliveira Fabrício Freire de Melo Instituto Multidisciplinar em saúde Universidade Federal da BahiaVitória da Conquista 45029-094BahiaBrazil Campus Vitória da Conquista Universidade Estadual do Sudoeste da BahiaVitória da Conquista 45083-900BahiaBrazil

Recent research has demonstrated that critically ill patients with coronavirus disease 2019(COVID-19)show significant immune system *** to that,some nutrients that influence immunomodulation have been suggested as a form of treatment against the *** review collected the information on the impact of vitamins on the prognosis of COVID-19,with the intention of facilitating treatment and prevention of the disease risk status in *** collected information was obtained using the PubMed electronic database by searching for articles that relate COVID-19 and the mechanisms/effects of the nutrients:Proteins,glucose,lipids,vitamin B12,vitamin D,calcium,iron,copper,zinc,and magnesium,including prospective,retrospective,and support *** findings reveal an optimal response related mainly to omega-3,eicosapentaenoic acid,docosahexaenoic acid,calcium,and iron that might represent benefits in the treatment of critically ill ***,nutrient supplementation should be done with caution due to the limited availability of randomized controlled studies.

关键词： COVID-19 Immunomodulation Patient care Vitamins Nutrients Micronutrients

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subcutaneous Model for the study of Dengue Virus Infection in Immune Competent Mice

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Journal of Biosciences and Medicines 2018年第5期6卷 97-110页

作者： beatriz senra santos Natalia Lima Pessoa Natalia Lucinda Gustavo Cardoso de Oliveira Thais souza silva Ketyllen Reis Andrade Ketyllen Reis Andrade Bruno Galvã o Filho Marcele Neves rocha Alexandre Vieira Machado Pedro Augusto Alves É rica Alessandra rocha Alves Erna Geessien Kroon Marco Antô nio Campos Instituto René Rachou Funda&amp amp ccedil & amp atilde o Oswaldo Cruz Fiocruz Belo Horizonte Brazil Departamento de Microbiologia Universidade Federal de Minas Gerais Belo Horizonte Brazil Empresa Brasileira de Pesquisa Agropecuá ria Laborat&amp amp oacute rio de Virologia Brasilia Brazil

Various mouse models to study dengue have been described by different authors, some of them using immunodeficient or some using humanized mice. Our group reported previously a deadly murine model, which used the intracranial inoculum of highly virulent Dengue virus (DENV) in immune competent mouse. Here we present a model of immune competent mouse (C57BL/6), infected subcutaneously by the same highly virulent DENV (DENV3 genotype I). In this immunocompetent systemic mice model, the cytokine levels and hematological parameters such as total and differential leukocyte and platelets counts, together with weight loss, were considered important monitoring parameters, allowing a better understanding of the systemic human disease. Mice were inoculated subcutaneously and evaluated by the percentage weight variation as well as the clinical signs. Hematological parameters and cytokines levels were measured and viral titration in brain tissue or serum neutralization was performed to confirm mice infection. The subcutaneously DENV inoculated mice showed weight loss after infection, but they did not show any other clinical signs. The leukocytes and platelets decreased after subcutaneous inoculation. The cytokines TNF alpha and IFN gamma increased after infection in mice. The subcutaneous model provided scope for improved understanding of the dengue pathogenesis, as well as possible mechanism for protection to subsequent mouse infected by intracranial route in mice. This model could be used to study the vertebrate immune response and evaluation of drugs or vaccine against dengue virus.

关键词： subcutaneous Murine Model Dengue Disease Immune Competent Mouse Cytokines Innate Immune Response

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Comparison of morphological and functional outcomes of mouse sciatic nerve repair with three biodegradable polymer conduits containing poly (lactic acid)

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Neural Regeneration Research 2018年第10期13卷 1811-1819页

作者： Fernanda Marques Pestana Rui C.C.Domingues Júlia Teixeira Oliveira Daniela F.P.A.Durco Camila Oliveira Goulart Henrique rocha Mendonca Anne Caroline Rodrigues dos santos Natália Tavares de Campos beatriz Theodoro da silva Cristina Cardoso Pereira Cristiano Piacsek Borges Ana Maria Blanco Martinez Pós Graduacao em Ciências Morfológicas Instituto de Ciências Biomédicas-UFRJRio de Janeiro RJ Brazil Anatomia Patológica-Faculdade de Medicina-HUCFF-UFRJ Rio de Janeiro RJ Brazil Laboratório de Neurodegeneracao e Reparo-Faculdade de Medicina-HUCFF-UFRJ Rio de Janeiro RJ Brazil Programa de Eng. Química COPPE-UFRJRio de Janeiro Brazil Polo Universitário de Macaé Laboratório Integrado de Produtos Bioativos e BiociênciasMacaê UFRJ Brazil

Poly（lactic acid）（PLA）-containing nerve guidance conduits（NGCs） are currently being investigated for nerve repair as an alternative to autograft, which leads to permanent functional impairment in the territory innervated by the removed nerve. Combination of polymers modifies the physical properties of the conduits, altering their nerve-guidance properties. Conduits made from PLA-only or combined with other polymers have been used successfully for nerve repair, but their efficiency has not been compared. We compared the morphological and functional outcomes of peripheral nerve repair by using NGCs made of poly（lactic acid） and combined or not with polycaprolactone（PLA/PCL） or polyvinylpyrrolidone（PLA/PVP）. To assess the functional recovery, we employed a mechanical hyperalgesia analysis, sciatic functional index（sFI）, and electroneuromyography. The mechanical hyperalgesia analysis showed that the PLA group improved more rapidly than the PLA/PVP and PLA/PCL groups; similarly, in the electroneuromyography assay, the PLA group exhibited higher amplitude than the PLA/PCL and PLA/PVP groups. However, the sFI improvement rates did not differ among the groups. Morphologically, the PLA group showed more vascularization, while the nerve fiber regeneration did not differ among the groups. In conclusion, the PLA-only conduits were superior to the other NGCs tested for nerve repair.

关键词： sciatic nerve tubulization biodegradable conduit poly(lactic acid) regeneration

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Helicobacter pylori infection in pregnant women:Gastrointestinal symptoms and pregnancy-related disorders

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World Journal of Clinical Infectious Diseases 2023年第5期13卷 49-57页

作者： Luana Kauany de sásantos jonathan s.ntos.apol.nio beatriz rocha cuzzuol Bruna Teixeira da Costa Vinícius Lima de souza Gonçalves Ronaldo Teixeira da silva Júnior Marcel silva Luz Fabian Fellipe Bueno Lemos samuel Luca rocha Pinheiro Fabrício Freire de Melo Instituto Multidisciplinar em saúde Universidade Federal da BahiaVitória da Conquista 45029-094BahiaBrazil Universidade Estadual do sudoeste da Bahia Campus Vitória da ConquistaVitória da Conquista 45083-900BahiaBrazil

Helicobacter pylori(***)is a gram-negative,flagellated and spiral-shaped bacterial pathogen that impacts approximately 46%among pregnant women globally and has been associated with various maternal-fetal *** deficiency anemia,fetal growth restriction,cardiovascular diseases,and insufficient nutrient absorption can be observed in pregnant women,as well as miscarriages and pregnancy-specific hypertensive disease,such as ***,the evidence supports the influence of *** infection on fetal implantation/placentation failure,and positive strains of the cytotoxin-associated gene A of *** were reported as the most prevalent in these ***,current knowledge indicates a relationship between this infection and the occurrence of hyperemesis gravidarum,characterized by frequent nausea and *** the diagnosis of this bacterial infection,non-invasive approaches such as stool antigen test,urea breath test,and serological tests are more accepted during pregnancy,as they are easy to carry out and ***,the bacteria eradication therapy should consider the risks and benefits for the pregnant woman and her child,with pharmacological intervention depending on the clinical presentation.

关键词： Helicobacter pylori Pregnancy Hyperemesis gravidarum Iron deficiency anemia Pre-eclampsia Fetal growth restriction Miscarriage

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Atypical presentation of pseudomembranous colitis localized in adenomatous polyps

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World Journal of Gastroenterology 2013年第2期19卷 316-318页

作者： Cristian Hernández-rocha jonathan Barra-Carrasco Ana María Guzmán Daniel Paredes-sabja Gabriel Lezcano Pablo Zoroquiaín Manuel lvarez-Lobos Department of Gastroenterology Faculty of MedicinePontificia Universidad Católica de ChileMarcoleta 367Santiago 6510260Chile Laboratory of Mechanisms of Bacterial Pathogenesis Department of Biological SciencesFaculty of Biological SciencesUniversidad Andrés BelloSantiago 6618000Chile Department of Clinical Laboratory Faculty of MedicinePontificia Universidad Católica de ChileMarcoleta 367Santiago 6510260Chile Department of Biomedical sciences College of Veterinary MedicineOregon State UniversityCorvallisOR 97333United States Department of Anatomophatology Faculty of MedicinePontificia Universidad Católica de ChileMarcoleta 367Santiago 6510260Chile

The most frequent cause of pseudomembranous colitis is Clostridium difficile(***) *** type of colitis is characterized by an endoscopic pattern of numerous small,yellowish or whitish plaques diffusely distributed,which typically compromises the rectum extending to proximal ***,the pseudomembranes compromise only the transverse or right colon,but their exclusive localization over polyps has not been *** this case report we have described a patient with symptoms compatible with *** infection and positive for *** toxigenic *** examination showed two small polyps with a whitish surface,and histopathological analysis confirmed them to be pseudomembranes over tubular *** rest of the colonic mucosa was normal and no other cause was *** suggest that this particular distribution might be due to a higher affinity for dysplastic cells such as adenomatous polyps of colon by *** and/or its toxins.

关键词： Clostridium difficile Pseudomembranous colitis Adenomatous polyps Antibiotic-associated colitis Clostridium difficile infections

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Hospitalizations and in-hospital mortality for inflammatory bowel disease in Brazil

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World Journal of Gastrointestinal Pharmacology and Therapeutics 2022年第1期13卷 1-10页

作者： Ana Luiza Vilar Guedes Amanda Lopes Lorentz Larissa Fernandes de Almeida Rios Rios beatriz Camara Freitas Adriano Gutemberg Neves Dias Ana Luísa Eckhard Uhlein Felipe Oliveira Vieira Neto Jobson Felipe soares Jesus Túlio de sáNovaes Torres Raquel rocha Vitor D Andrade Genoile Oliveira santana Life sciences Department State University of BahiaSalvador 41150-000BahiaBrazil sciences of Nutrition Federal University of BahiaSalvador 40110-060BahiaBrazil Medicine Department Universidade Salvador(UNIFACS)Salvador 41820-021BahiaBrazil Medicine and Health Postgraduate Program Federal University of BahiaSalvador 40110-060BahiaBrazil

BACKGROUND Inflammatory bowel disease(IBD)is associated with complications,frequent hospitalizations,surgery and *** introduction of biologic drugs into the therapeutic arsenal in the last two decades,combined with an expansion of immunosuppressant therapy,has changed IBD management and may have altered the profile of hospitalizations and in-hospital mortality(IHM)due to *** To describe hospitalizations from 2008 to 2018 and to analyze IHM from 1998 to 2017 for IBD in *** This observational,retrospective,ecological study used secondary data on hospitalizations for IBD in Brazil for 2008-2018 to describe hospitalizations and for 1998-2017 to analyze *** data were obtained from the Hospital Information system of the Brazilian Unified Health system and population data from demographic *** following variables were analyzed:Number of deaths and hospitalizations,length of hospital stay,financial costs of hospitalization,sex,age,ethnicity and type of hospital *** There was a reduction in the number of IBD hospitalizations,from 6975 admissions in 1998 to 4113 in 2017(trend:y=-0.1682x+342.8;R^(2)=0.8197;Pspitalization rate also decreased,from 3.60/100000 in 2000 to 2.17 in *** rates varied during the 20-year period,between 2.06 in 2017 and 3.64 in 2007,and did not follow a linear trend(y=-0.0005049x+2.617;R^(2)=0,00006;P=0.9741).IHM rates also varied between regions,increasing in all but the southeast,which showed a decreasing trend(y=-0.1122x+4.427;R^(2)=0,728;Psoutheast region accounted for 44.29%of all *** Northeast region had the highest IHM rate(2.86 deaths/100 admissions),with an increasing trend(y=0.1105x+1.110;R^(2)=0.6265;Pst hospitalization rate(1.15).The Midwest and south regions had the highest hospitalization rates(3.27 and 3.17,respectively).A higher IHM rate was observed for nonelective admissions(2.88),which accounted for 81%of IB

关键词： Inflammatory bowel disease Crohn’s disease Ulcerative colitis Hospitalization Hospital mortality Hospital information systems Epidemiology

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