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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 santos Apolonio 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 santos Apolonio 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 santos Apolonio 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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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 santos Apolonio 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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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 santos Apolonio 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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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 santos Apolonio 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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Treatment of Helicobacter pylori infection in children:A systematic review

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World Journal of Meta-Analysis 2020年第4期8卷 292-308页

作者： Filipe Antônio França da silva Breno Bittencourt de Brito Maria Luísa Cordeiro santos Hanna santos Marques Mariana Miranda sampaio Ronaldo Teixeira da silva Júnior Jonathan santos Apolonio Lorena sousa de Carvalho Camilo santana silva luana kauany de sásantos Márcio Vasconcelos Oliveira Gifone Aguiar Rocha Dulciene Maria de Magalhães Queiroz 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 Laboratory of Research in Bacteriology Faculdade de MedicinaUniversidade Federal de Minas Gerais(UFMG)Belo Horizonte 30130-100Minas GeraisBrazil

BACKGROUND Helicobacter pylori(***)infection is predominantly acquired in *** indicated,the most accepted treatment for *** eradication in this age group is first-line triple ***,the increasing resistance to clarithromycin and nitroimidazoles has been associated with treatment failure,and thus,alternative treatment regimens have been *** To perform a systematic review of randomized controlled trials on treatment regimens for *** infection in *** We surveyed relevant articles published in English from 2010 to April 2020 in the PubMed and MEDLINE *** included“Helicobacter pylori“/”children or childhood“/”treatment or eradication.”The risk of bias was evaluated according to the Cochrane Handbook of systematic Reviews for *** Among the 1144 records identified through the database,20 articles were *** studies compared the eradication rates of *** infection between standard triple therapies,changing only the main antibiotic *** studies evaluated the effectiveness of standard triple therapy with the addition of *** study investigated the relationship between the effectiveness in the eradication rates of standard triple therapy and vitamin E *** studies analyzed the eradication rates of sequential *** The findings suggest that although standard triple therapy is the most recommended regimen for children by the current guidelines,other therapeutic schemes have shown promising results and may also be recommended for clinical practice in the future.

关键词： Helicobacter pylori Children Pediatric treatment standard triple therapy Probiotics sequential therapy Eradication therapies

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