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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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Non-pharmacological management of pediatric functional abdominal pain disorders:Current evidence and future perspectives

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World journal of Clinical Pediatrics 2022年第2期11卷 105-119页

作者： Maria Luísa Cordeiro Santos ronaldo teixeira da silva júnior Breno Bittencourt de Brito Filipe Antônio França da silva Hanna Santos Marques Vinícius Lima de SouzaGonçalves Talita Costa dos Santos Carolina Ladeia Cirne Natália Oliveira e silva 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

Functional abdominal pain disorders(FAPDs) are an important and prevalent cause of functional gastrointestinal disorders among children, encompassing the diagnoses of functional dyspepsia, irritable bowel syndrome, abdominal migraine, and the one not previously present in Rome Ⅲ, functional abdominal pain not otherwise specified. In the absence of sufficiently effective and safe pharmacological treatments for this public problem, non-pharmacological therapies emerge as a viable means of treating these patients, avoiding not only possible side effects, but also unnecessary prescription, since many of the pharmacological treatments prescribed do not have good efficacy when compared to placebo. Thus, the present study provides a review of current and relevant evidence on non-pharmacological management of FAPDs, covering the most commonly indicated treatments, from cognitive behavioral therapy to meditation, acupuncture, yoga, massage, spinal manipulation, moxibustion, and physical activities. In addition, this article also analyzes the quality of publications in the area, assessing whether it is possible to state if non-pharmacological therapies are viable, safe, and sufficiently well-based for an appropriate and effective prescription of these treatments. Finally, it is possible to observe an increase not only in the number of publications on the non-pharmacological treatments for FAPDs in recent years, but also an increase in the quality of these publications. Finally, the sample selection of satisfactory age groups in these studies enables the formulation of specific guidelines for this age group, thus avoiding the need for adaptation of prescriptions initially made for adults, but for children use.

关键词： Functional abdominal pain disorder Pediatrics Rome IV Behavioral intervention Nonpharmacological treatment Complementary medicine

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Transmission of severe acute respiratory syndrome coronavirus 2 via fecal-oral:Current knowledge

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World journal of Clinical Cases 2021年第28期9卷 8280-8294页

作者： Filipe Antônio França da silva Breno Bittencourt de Brito Maria Luísa Cordeiro Santos Hanna Santos Marques ronaldo teixeira da silva júnior Lorena Sousa de Carvalho Samuel de Sousa Cruz Gabriel Reis Rocha Gabriel Lima Correa Santos Kathlen Coutinho de Souza Rebeca Gabrielle Almeida Maciel daiana silva Lopes Natália Oliveira e silva Márcio Vasconcelos Oliveira Fabrício Freire de Melo Instituto Multidisciplinar em Saúde Universidade Federal da BahiaVitória da Conquista 45002175BahiaBrazil Departamento de Ciências Naturais Universidade Estadual do Sudoeste da BahiaVitória da Conquista 45002175BahiaBrazil Departamento de Bioquímica e Biofísica Universidade Federal da BahiaSalvador 40.110-100BahiaBrazil Instituto Multidisciplinar em Saúde Universidade Federal da BahiaVitória da Conquista 45029-094BahiaBrazil

The pandemic caused by severe acute respiratory syndrome coronavirus 2(SARS-CoV-2)has resulted in more than 93 million cases and 2 million deaths in the ***-CoV-2 respiratory tract infection and its main clinical manifestations such as cough and shortness of breath are well known to the scientific ***,a growing number of studies have reported SARS-CoV-2-related gastrointestinal involvement based on clinical manifestations,such as diarrhea,nausea,vomiting,and abdominal pain as well as on the pathophysiological mechanisms associated with coronavirus disease ***,current evidence suggests SARS-CoV-2 transmission via the fecal-oral route and aerosol ***,studies have shown a high risk of contamination through hospital surfaces and personal ***,viable SARS-CoV-2 specimens can be obtained from aerosols,which raises the possibility of transmission through aerosolized viral particles from ***,the infection by SARS-CoV-2 via fecal-oral route or aerosolized particles should *** addition,a possible viral spread to sources of drinking water,sewage,and rivers as well as the possible risk of viral transmission in shared toilets become a major public health concern,especially in the least developed *** authors have emphasized the presence of viral RNA and even viable SARS-CoV-2 in human feces,studies on the possible fecal-oral coronavirus disease 2019 transmission become essential to understand better the dynamics of its transmission and,then,to reinforce preventive measures against this infection,leading to a more satisfactory control of the incidence of the infection.

关键词： COVID-19 SARS-CoV-2,Transmission Via fecal-oral

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Crohn's disease and clinical management today:How it does?

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World journal of Methodology 2023年第5期13卷 399-413页

作者： ronaldo teixeira da silva júnior jonathan Santos Apolonio jessica Oliveira de Souza Nascimento Bruna teixeira da Costa Luciano Hasimoto Malheiro Marcel silva Luz Lorena Sousa de Carvalho Cleiton da silvaSantos Fabrício Freire de Melo Instituto Multidisciplinar em Saúde Universidade Federal da BahiaVitória da Conquista 45029-094BahiaBrazil

Crohn’s Disease(CD)is an Inflammatory Bowel Disease and is characterized by an immune-mediated *** etiology results from the interaction between genetic,enviromental and microbial *** pathophysiology,it involves high levels of interleukin(IL)-12,IL-17,and Th1 profile,along with loss of tolerance mechanisms,an increase in pro-inflammatory interleukins,beyond the possibility to affect any part of the gastrointestinal *** symptoms include abdominal pain,chronic diarrhea,weight loss,anorexia,and fatigue,as well as blood in the stool or ***,conditions comprising musculoskeletal,cutaneous,ocular,hepatic,and hematological alterations may be associated with this scenario and extra-intestinal presentation,such as erythema nodosum,anterior uveitis,osteoporosis,and arthritis can also ***,clinical history,exams as fecal calprotectin,ileocolonocopy,and capsule endoscopy can be performed in the diagnosis investigation,along with treatments to induce and maintain *** this sense,anti-inflammatory drugs,such as corticosteroids,immunomodulators,and biological agents,as well as surgery and non-pharmacological interventions plays a role in its *** aim of this review is to bring more current evidence to clinical management of CD,as well as to briefly discuss aspects of its pathophysiology,surveillance,and associated disorders.

关键词： Crohn's disease Inflammatory bowel diseases Diagnosis Treatment Immunomodulation Biological agents

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Beyond authorship: Analyzing contributions in PLOS ONE and the challenges of appropriate attribution

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journal of data and Information Science 2024年第3期9卷 88-115页

作者： Abdelghani Maddi jaime A.teixeira da silva GEMASS-CNRS-Sorbonne Université 59/61 rue Pouchet 75017 ParisFrance Independent researcher Ikenobe 3011-2Kagawa-ken761-0799Japan

Purpose:This study aims to evaluate the accuracy of authorship attributions in scientific publications,focusing on the fairness and precision of individual contributions within academic ***/methodology/approach:The study analyzes 81,823 publications from the journal PLOS ONE,covering the period from january 2018 to june *** examines the authorship attributions within these publications to try and determine the prevalence of inappropriate *** also investigates the demographic and professional profiles of affected authors,exploring trends and potential factors contributing to inaccuracies in ***:Surprisingly,9.14%of articles feature at least one author with inappropriate authorship,affecting over 14,000 individuals(2.56%of the sample).Inappropriate authorship is more concentrated in Asia,Africa,and specific European countries like *** researchers with significant publication records and those affiliated with companies or nonprofits show higher instances of potential monetary *** limitations:Our findings are based on contributions as declared by the authors,which implies a degree of trust in their ***,this reliance on self-reporting may introduce biases or inaccuracies into the *** research could employ additional verification methods to enhance the reliability of the *** implications:These findings have significant implications for journal publishers,Beyond authorship:Analyzing contributions in PLOS ONE and Maddi,A.,&the challenges of appropriate attribution highlighting the necessity for robust control mechanisms to ensure the integrity of authorship ***,researchers must exercise discernment in determining when to acknowledge a contributor and when to include them in the author *** these issues is crucial for maintaining the credibility and fairness of academic ***/value:This study contributes to an unders

关键词： Authorship Funding acquisition Research integrity Author contributions CRediT Inappropriate authorship APC ring

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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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Molecular and serology methods in the diagnosis of COVID-19: An overview

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World journal of Methodology 2022年第3期12卷 83-91页

作者： Marcel silva Luz ronaldo teixeira da silva júnior Gabriella Almeida Santos de Santana Gabriela SantosRodrigues Henrique de Lima Crivellaro Mariana Santos Calmon Clara Faria Souza Mendes dos Santos LuisGuilherme de Oliveira silva Qesya Rodrigues Ferreira Guilherme Rabelo Mota Heloísa Heim Filipe AntônioFrança da silva Breno Bittencourt de Brito Fabrício Freire de Melo Instituto Multidisciplinar em Saúde Universidade Federal da BahiaVitória da Conquista 45002175BahiaBrazil Instituto Multidisciplinar em Saúde Universidade Federal da BahiaVitória da Conquista 45029-094BahiaBrazil

Coronavirus disease-19(COVID-19)has become a pandemic,being a global health concern since December 2019 when the first cases were *** acute respiratory syndrome coronavirus 2,the COVID-19 causal agent,is aβ-coronavirus that has on its surface the spike protein,which helps in its virulence and pathogenicity towards the ***,effective and applicable diagnostic methods to this disease come as an important tool for the management of the *** use of the molecular technique PCR,which allows the detection of the viral RNA through nasopharyngeal swabs,is considered the gold standard test for the diagnosis of ***,serological methods,such as enzyme-linked immunosorbent assays and rapid tests,are able to detect severe acute respiratory syndrome coronavirus 2-specific immunoglobulin A,immunoglobulin M,and immunoglobulin G in positive patients,being important alternative techniques for the diagnostic establishment and epidemiological *** the other hand,reverse transcription loop-mediated isothermal amplification also proved to be a useful diagnostic method for the infection,mainly because it does not require a sophisticated laboratory apparatus and has similar specificity and sensitivity to ***,imaging exams provide findings of typical pneumonia,such as the ground-glass opacity radiological pattern on chest computed tomography scanning,which along with laboratory tests assist in the diagnosis of COVID-19.

关键词： COVID-19 Pandemic Diagnosis Polymerase chain reaction Molecular biology Serology

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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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Highlighting COVID-19:What the imaging exams show about the disease

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World journal of Radiology 2021年第5期13卷 122-136页

作者： Lorena Sousa de Carvalho ronaldo teixeira da silva júnior Bruna Vieira silva Oliveira Yasmin silva de Miranda Nara Lúcia Fonseca Rebouças Matheus Sande Loureiro Samuel Luca Rocha Pinheiro Regiane Santos da silva Paulo Victor silva Lima Medrado Correia Maria josé Souza silva Sabrina Neves Ribeiro Filipe Antônio França da silva Breno Bittencourt de Brito Maria Luísa Cordeiro Santos Rafael Augusto Oliveira Sodré Leal Márcio Vasconcelos Oliveira Fabrício Freire de Melo Department of Instituto Multidisciplinar em Saúde Universidade Federal da BahiaVitória da Conquista 45029-094BahiaBrazil

Coronavirus disease 2019(COVID-19),a global emergency,is caused by severe acute respiratory syndrome coronavirus *** gold standard for its diagnosis is the reverse transcription polymerase chain reaction,but considering the high number of infected people,the low availability of this diagnostic tool in some contexts,and the limitations of the test,other tools that aid in the identification of the disease are *** this scenario,imaging exams such as chest X-ray(CXR)and computed tomography(CT)have played important *** is useful for assessing disease progression because it allows the detection of extensive consolidations,besides being a fast and cheap *** the other hand,CT is more sensitive for detecting lung changes in the early stages of the disease and is also useful for assessing disease *** note,ground-glass opacities are the main COVID-19-related CT *** emission tomography combined with CT can be used to evaluate chronic and substantial damage to the lungs and other organs;however,it is an expensive *** ultrasound(LUS)has been shown to be a promising technique in that context as well,being useful in the screening and monitoring of patients,disease classification,and management related to mechanical ***,LUS is an inexpensive alternative available at the ***,magnetic resonance imaging,although not usually requested,allows the detection of pulmonary,cardiovascular,and neurological abnormalities associated with ***,it is important to consider the challenges faced in the radiology field in the adoption of control measures to prevent infection and in the follow-up of post-COVID-19 patients.

关键词： SARS-CoV-2 COVID-19 Pneumonia Pandemic Radiology Tomography

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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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