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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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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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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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Clinicopathological Description of a Chronic Lymphocytic Leukemia in a Dog

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Open Journal of Veterinary Medicine 2024年第7期14卷 155-162页

作者： Maria Clara Boni Raffi Giovanna Valverde Magalhães Barbosa Alana Carolina Capais Rodrigues Sheila Canevese Rahal John P. Kastelic Luíz Guilherme Dercore Benevenuto Iolanda Simões Braga beatriz Poloni Batista Felipe César Da Silva Brasileiro Fernanda Barthelson Carvalho de Moura Priscylla Tatiana Chalfun Guimarães Okamoto Regina Kiomi Takahira Alessandra Melchert Noeme Sousa rocha Department of Veterinary Clinics School of Veterinary Medicine and Animal Science So Paulo State UniversityUNESP Botucatu SP Brazil Independent Veterinary Practitioner Department of Veterinary Surgery and Animal Reproduction School of Veterinary Medicine and Animal Science So Paulo State UniversityUNESP Botucatu SP Brazil Faculty of Veterinary Medicine University of Calgary Calgary Canada

Hematopoietic tumors are associated with diagnostic and therapeutic challenges and a poor prognosis. Furthermore, their pathophysiology in dogs is not well understood. Chronic lymphocytic leukemia has been rarely reported in golden retrievers, perhaps due to difficulties in diagnosis and care. An 8-year-old spayed female golden retriever was referred to our hospital with a 2-month history of fatigue, weakness, and selective appetite. The dog was diagnosed with chronic lymphocytic leukemia based on blood smear evaluation. Despite treatment, the dog deteriorated and the owners opted for euthanasia. Histopathological examination revealed atypical lymphocytes in the spleen, extramedullary hematopoiesis in the spleen and liver, bone marrow depletion, moderate neutrophilic myocarditis, and acute renal tubular necrosis. In an immunohistochemical panel, cells in the spleen and bone marrow were positive for anti-CD20, anti-CD45, anti-CD3, anti-IBA-1, anti-Ki67, anti-MUM-1, and anti-PAX-5. In conclusion, the leukemia diagnosis was confirmed through reactive histiocytosis, marked extramedullary hematopoiesis, and other clinical and laboratory findings. Herein, we report a case of chronic lymphocytic leukemia in a female dog with clinical, laboratory, and necroscopy findings.

关键词： Canine Cancer Neoplasia Therapeutics

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Prebiotics in non-dairy products:Technological and physiological functionality,challenges,and perspectives

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Food Bioscience 2022年第2期46卷 122-137页

作者： Tatiana Colombo Pimentel Bianca beatriz Torres de Assis Caique dos Santos rocha Vanessa Aparecida Marcolino Michele Rosset Marciane Magnani Federal Institute of Paran´a Campus Paranavaí87703-536ParanavaíPRBrazil State University of Maring´a Food Engineering Post-GraduationMaring´aPRBrazil Federal Institute of Paran´a Campus ColomboColomboPRBrazil Department of Food Engineering University of ParaíbaJo˜ao PessoaPBBrazil

Vegan consumers look for fresh,tasty,and nutritious products that use eco/animal-friendly *** are substrates selectively utilized by host microorganisms conferring a health *** study aimed to overview the potentially vegan products added with prebiotics,their health benefits,and the main technological and sensory *** main potentially vegan products added with prebiotics studied were based on water-soluble plant-based extracts(fermented beverages,frozen desserts,cheese analog),fruits(fruit juices,fruit jelly,and ready to eat fruits),and cereals(snack bars,granola bars,bread,and cookies).The main prebiotic compounds used were inulin,fructooligosaccharides,oligofructose,polydextrose,and *** effects of prebiotic on food products’,host health,and technological and sensory properties depended on the prebiotic type and dosage,food matrix,and subject *** positive health effects were related to skin health,gut microbiota improvement,hypocholesterolemic impact,reduction of the risk of metabolic diseases,and improvements in postprandial blood glucose and insulin *** could improve vegan products’technological and sensory properties,such as fermentation time,texture and rheological properties,storage length,sensory acceptance,and probiotic ***,they could increase the concentration and/or bioaccessibility of phenolic compounds and ***,it is of paramount importance the determination of prebiotic *** trends direct to new prebiotic compounds based on microalgae,fruit and cereal by-products,and *** review provides industries and researchers with important information about prebiotics and vegan products.

关键词： Inulin-type fructans Non-dairy products Veganism Prebiotic ingredients

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Accidents at Work from Exposure to Biological Material Contamination of Viral Hepatitis“B”and“C”in a Brazilian Capital

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Occupational Diseases and Environmental Medicine 2014年第2期2卷 39-47页

作者： Hanna beatriz Bacelar Tibaes Isabela Mie Takeshita Adelaide De Mattia rocha Federal University of Minas Gerais(UFMG) Belo HorizonteBrazil College of Nursing Federal University of Minas Gerais(UFMG)Belo HorizonteBrazil College of Nursing University of Sao PauloSao PauloBrazil

Background: Occupational exposure to biological materials is a serious risk to the health of workers in their workplaces, due to the possibility of transmitting pathogens such as Hepatitis B Virus (HBV), Hepatitis C Virus (HCV), and Human Immunodeficiency Virus (HIV). The aim of this study was to analyze the accidents of exposure to biological material which resulted in contamination of Hepatitis B and C in the municipal health Belo Horizonte. Methods: Epidemiological study with cross-sectional design performed by querying the data on accidents at work involving exposure to biological materials and notification data of Viral Hepatitis in the Information System for Notifiable Diseases (SINAN) for the period of 2007 to June 2011, filed with the municipal government of Belo Horizonte. A descriptive analysis was performed using frequency distribution and percentages. Results: The 45 research records were arranged in professional categories, with 57.77% of incidents being ignored, followed by 24.44% nursing technicians, 6.66% nursing assistants, and 2.22% marketers, housekeeping, administrators, janitors, and builders. The average age was 39 years and 64.44% of the professionals were female. At the notification of the accident, 75.55% of professionals were not registered at CAT, and 92.85% of exposures occurred in the hospital;64.29% in contact with blood;35.71% of the causative agent was without needle lumen, 28.57% during administration of intravenous medication, and 57.14% from percutaneous exposure. In the distribution of occupation, 57.78% were contaminated with viral Hepatitis B and C. With vaccination regimens for Hepatitis B, 66.67% of the cases went to nursing assistants and 42.22% were “ignored”. Conclusion: These data confirm the need for reorientation of working practices during daily activities of health workers and guidance for notification of occupational accidents involving biological material and viral Hepatitis B and C in order to improve the quality of

关键词： Work Accidents Hepatitis B Hepatitis C Health of the Worker Exposure to Biological Agents

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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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