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Usher syndrome:Genetic diagnosis and current therapeutic approaches

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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

Role of nickel-regulated small RNA in modulation of Helicobacter pylori virulence factors

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World Journal of Clinical Cases 2022年第31期10卷 11283-11291页

作者： Fabrício Freire de Melo Hanna Santos Marques Fabian Fellipe bueno Lemos Marcel Silva Luz Samuel Luca Rocha Pinheiro Lorena Sousa de carvalho Cláudio Lima Souza Márcio Vasconcelos Oliveira Institution Multidisciplinar em Saúde Universidade Federal da BahiaVitória da Conquista 45029-094Brazil Campus Vitória da Conquista Universidade Estadual do Sudoeste da BahiaVitória da Conquista 45083-900Brazil

Helicobacter pylori(***)is a Gram-negative bacterium that infects about half of the world's *** infection prevails by several mechanisms of adaptation of the bacteria and by its virulence factors including the cytotoxin associated antigen A(CagA).CagA is an oncoprotein that is the protagonist of gastric carcinogenesis associated with prolonged *** *** this sense,small regulatory RNAs(sRNAs)are important macromolecules capable of inhibiting and activating gene *** function allows sRNAs to act in adjusting to unstable environmental conditions and in responding to cellular stresses in bacterial *** discoveries have shown that nickelregulated small RNA(NikS)is a post-transcriptional regulator of virulence properties of ***,including the oncoprotein ***,high concentrations of nickel cause the reduction of NikS expression and consequently this increases the levels of *** addition,NikS expression appears to be lower in clinical isolates from patients with gastric cancer when compared to patients *** that in mind,this minireview approaches,in an accessible way,the most important and current aspects about the role of NikS in the control of virulence factors of *** and the potential clinical repercussions of this modulation.

关键词： Helicobacter pylori Small regulatory RNAs Nickel-regulated small RNA Virulence factors Cytotoxin associated antigen A Gastric cancer

Metabolic and nutritional triggers associated with increased risk of liver complications in SARS-CoV-2

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World Journal of Hepatology 2022年第1期14卷 80-97页

作者： Rosangela Passos de Jesus Jozélio Freire de carvalho Lucivalda Pereira Magalhães de Oliveira Carla de Magalhães Cunha Thaisy Cristina Honorato Santos Alves Sandra Tavares Brito Vieira Virginia Maria Figueiredo Allain Amador bueno Postgraduate Program in Food Nutrition and Health at the School of Nutrition of the Federal University of BahiaSalvador 40.110-150BahiaBrazil Institute of Health Sciences Federal University of BahiaSalvador 40231-300BahiaBrazil Institute of Life Sciences State University of BahiaSalvador 41.150-000BahiaBrazil department of Gastroenterology IPEMEDIpemed Faculty of Medical SciencesSalvador 40170-110BahiaBrazil College of Health Life and Environmental SciencesUniversity of WorcesterWorcester WR26AJUnited Kingdom

Obesity,diabetes,cardiovascular and respiratory diseases,cancer and smoking are risk factors for negative outcomes in severe acute respiratory syndrome coronavirus 2(SARS-CoV-2),which can quickly induce severe respiratory failure in 5%of *** disease-associated liver injury may occur during progression of SARS-CoV-2 in patients with or without pre-existing liver disease,and damage to the liver parenchyma can be caused by infection of *** patients may be particularly vulnerable to SARS-CoV-2 if suffering with cirrhosis-associated immune ***,pharmacotherapies including macrolide or quinolone antibiotics and steroids can also induce liver *** this review we addressed nutritional status and nutritional interventions in severe SARS-CoV-2 liver *** guidelines for SARS-CoV-2 in intensive care(IC)specifically are not yet available,strategies for management of sepsis and SARS are suggested in *** enteral nutrition(EN)should be started soon after IC admission,preferably employing iso-osmolar polymeric formula with initial protein content at 0.8 g/kg per day progressively increasing up to 1.3 g/kg per day and enriched with fish oil at 0.1 g/kg per day to 0.2 g/kg per *** is necessary to identify signs of intolerance,hemodynamic instability and metabolic disorders,and transition to parenteral nutrition should not be delayed when energy and protein targets cannot be met via *** including vitamins A,C,D,E,B6,B12,folic acid,zinc,selenium andω-3 fatty acids have in isolation or in combination shown beneficial effects upon immune function and inflammation *** and monitored supplementation up to upper limits may be beneficial in management strategies for SARS-CoV-2 liver patients.

关键词： COVID-19 SARS-CoV-2 Enteral nutrition Parenteral nutrition Hepatic failure

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Food and Nutrition Sciences 2023年第10期14卷 984-996页

作者： Ellen Rodrigues dos Santos José Eduardo Corrente Rachel Santos bueno carvalho Giovana Fumes-Ghantous department of Basic Sciences Faculty of Animal Science and Food Engineering University of S&#227o Paulo Pirassununga Brazil Research Support Group S&#227o Paulo State University “Júlio de Mesquita Filho” Botucatu Brazil

This study aimed to evaluate the features related to consumers’ reading nutritional labels in a city in the interior of the São Paulo State, Brazil. A questionnaire was answered by 100 consumers of a supermarket chain, sociodemographic information and data related to label reading habits were collected. Tables with percentage values and bar graphs were used. Chi-square tests and logistic regression models were performed to verify the association between the variables and the label reading habits. The factors that showed significant associations with the reading labels were gender, ease to understand the labels and access to their information (p 0.10). People who had already read labels reported to have more difficulty to understand the information contained on them, and people who had already received instructions on the labels were three and a half times more likely to read the instructions contained on them than those who hadn’t received any guidance. This study points to the need to expand the disclosure to consumers about the contents present on the labels, through more accessible language, so that the labels fulfill their role to instruct consumers in their choices.

关键词： Association Tests Label Logistic Regression