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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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Relationship between angiotensin-(1-7) and angiotensin Ⅱ correlates with hemodynamic changes in human liver cirrhosis

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World Journal of Gastroenterology 2009年第20期15卷 2512-2519页

作者： Walkíria Wingester Vilas-Boas Antnio Ribeiro-Oliveira Jr Regina Maria Pereira Renata da Cunha Ribeiro Jerusa Almeida Ana Paula Nadu Ana Cristina Simoes e silva Robson augusto Souza dos santos Laboratory of Hypertension Department of Physiology Biological Sciences institute Federal University of Minas Gerais Av. Antonio Carlos 6627 Belo Horizonte MG 31270-901 Brazil Laboratory of Endocrinology Department of Medicine Faculty of Medicine Federal University of Minas Gerais Av. Alfredo Balena 190 Belo Horizonte MG 30130-100 Brazil Hospitalar Foundation of the State of Minas Gerais FHEMIG Belo Horizonte MG Brazil Department of Pediatrics Faculty of Medicine Federal University of Minas Gerais Av.Alfredo Balena 190 Belo Horizonte MG 30130-100 Brazil

AIM： To measure circulating angiotensins at different stages of human cirrhosis and to further evaluate a possible relationship between renin angiotensin system （RAS） components and hemodynamic changes. METHODS： Patients were allocated into 4 groups： mild-to-moderate liver disease （MLD）, advanced liver disease （ALD）, patients undergoing liver transplantation, and healthy controls. Blood was collected to determine plasma renin activity （PRA）, angiotensin （Ang） Ⅰ, Ang Ⅱ, and Ang-（1-7） levels using radioimmunoassays. During liver transplantation, hemodynamic parameters were determined and blood was simultaneously obtained from the portal vein and radial artery in order to measure RAS components. RESULTS： PRA and angiotensins were elevated in ALD when compared to MLD and controls （P 〈 0.05）. In contrast, Ang Ⅱ was significantly reduced in MLD. Ang-（1-7）/Ang Ⅱ ratios were increased in MLD when compared to controls and ALD. During transplantation, Ang Ⅱ levels were lower and Ang-（1-7）/Ang Ⅱ ratios were higher in the splanchnic circulation than in the peripheral circulation （0.52 ± 0.08 vs 0.38 ±0.04, P 〈 0.02）, whereas the peripheral circulating Ang Ⅱ/Ang Ⅰ ratio was elevated in comparison to splanchnic levels （0.18 ±0.02 vs 0.13 ±0.02, P 〈 0.04）. Ang-（1-7）/ Ang Ⅱ ratios positively correlated with cardiac output （r = 0.66） and negatively correlated with systemic vascular resistance （r = -0.70）. CONCLUSION： Our findings suggest that the relationship between Ang-（1-7） and Ang Ⅱ may play a role in the hemodynamic changes of human cirrhosis.

关键词： Renin-angiotensin system Liver cirrhosis Angiotensin-(1-7) Angiotensin Ⅱ Splanchnic circulation Angiotensin converting enzyme 2

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Unveiling an important interaction in forestry:Ectomyelois muriscis and Khaya grandifoliola cankers and tree growth

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Journal of Forestry Research 2021年第3期32卷 1287-1293页

作者： Lísias Coelho AndréRTerra Nascimento Jean Carlos santos Vinícius Flabes silva Instituto de Ciências Agrárias Universidade Federal de UberlandiaUberlandiaBrazil Instituto de Biologia Universidade Federal de UberlandiaUberlandiaBrazil Departamento de Ecologia Universidade Federal de SergipeSergipeBrazil

African mahogany,Khaya grandifoliola ***.,is the most planted mahogany species in Brazil,and became the choice species when plantations of Brazilian mahogany,Swietenia macrophyla King became unsustainable due to their susceptibility to the shoot borer Hypsipyla grandella *** study evaluated plantation growth and the occurrence of cankers associated with Ectomyelois muriscis Dyar *** recorded plantation volume,survival,and canker incidence of a plantation established in 2010 at 6 m×5.5 m *** were collected and reared on canker bark fragments until final adult *** were frequently associated with Ectomyelois muriscis *** average incidence of the moth(2.9%)was not a significant concern,however,an extreme incidence of 45%would indicate that management strategies should be *** is the first report of Ectomyelois muriscis attacking the bark of Khaya grandifoliola in the Cerrado biome.

关键词： African mahogany Stem cankers Potential pest Stand growth

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Fractionation of rare earth and other trace elements in crabs,Ucides cordatus,from a subtropical mangrove affected by fertilizer industry

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Journal of Environmental Sciences 2017年第4期29卷 69-76页

作者： Alice Bosco-santos Wanilson Luiz-silva Emmanoel Vieira da silva-Filho Monique Dias Corrêa de Souza Elton Luiz Dantas Margareth Sugano Navarro State University of Campinas (UNICAMP) Institute of Geosciences Department of Geology and Natural Resources Campinas Sao Paulo 13083870 Brazil . Fluminense Federal University (UFF) Institute of Chemistry Department of Geochemistry Niteroi Rio de Janeiro 24900970 Brazil University of Brasília(UnB) Institute of Geosciences Department of Geology Brasflia Distrito Federal 70910900 Brazil

Fractionation of rare earth elements（REE） and other trace metal concentrations（Th, U, Cd,Cr, Cu, Ni, Pb, and Zn） between mangrove sediments and claw muscles and shells of male crabs（Ucides cordatus） from a subtropical estuary highly impacted by fertilizer industry activities was investigated. This is the first record of REE distribution in these organisms,and the results showed higher accumulations of these metals, U and Th in shells, probably related to the replacement of Ca during molting. Contents of Cd, Cr and Ni were similar in both tissues, but Cu, Zn and Pb were mostly accumulated in the claw muscle with concentrations above those considered safe for human consumption according to the Brazilian legislation. REE fractionation was different in the analyzed tissues being softer in the shells. The results provided evidences that the water absorbed during molting controls the chemistry of REE in shells. In contrast, the chemistry of REE in the claw muscle, in which was observed preferential absorption of light REE, is controlled by diet. REE fractionation obtained for the claw muscles was closely correlated to the observed in the contaminated substrate and in materials related to the production of phosphate fertilizers（contamination source）, which supports their transference to this Ucides cordatus tissue without fractionation by the ingestion of sediments. Our results showed the potential use of crab tissues for monitoring REE and trace element sources in mangrove areas, with claw muscle exhibiting the contaminant source fingerprint.

关键词： Rare earth elements Trace metals Fertilizer contamination Crabs

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Effectiveness of different biochars in remediating a salt-affected Luvisol in Northeast Brazil

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Biochar 2021年第2期3卷 149-159页

作者： Wallace Melo dos santos Maria Isidoria silva Gonzaga JoséAiron da silva AndréQuintão de Almeida JoséCarlos de Jesus santos Thomas Antonio silva Gonzaga Idamar da silva Lima EloáMoura Araújo Water Resources Graduate Program Federal University of SergipeSão CristóvãoSE 49100‑000Brazil Agronomy Department Federal University of SergipeSão CristóvãoSE 49100‑000Brazil Agriculture Engineering Department Federal University of SergipeSão CristóvãoSE 49100‑000Brazil University of Notre Dame Notre DameIN 46556USA Soils and Agricultural Engineering Department Federal University of ParanáCuritibaPR 80060‑000Brazil

Biochar has been proposed as a soil amendment to reclaim salt-affected ***,the evaluation of the different biochar types in these soils is essential due to the significant variation among biochar *** this study,biochars from sugarcane bagasse(SB),orange bagasse(OB),and corncob(CB)were applied alone and in the presence of gypsum(G)to test their potential to remediate a highly degraded saline-sodic soil in Brazil´s Northeast *** that,we conducted a laboratory column-leaching experiment and a greenhouse *** the column-leaching test,we analyzed the sodium adsorption ratio(SAR),the electrical conductivity of the saturation extract(ECe),the concentrations of major ions,and the exchangeable sodium percentage(ESP).Maize plants were grown in the leached soil in a ***-and corncob-derived biochars were more efficient than gypsum in reducing the soil salinity,bringing the indicators below threshold values,and optimizing soil reclamation *** ECe,SAR,and ESP were reduced to 3.42 dS m−1,1.64(mmolc dm−3)0.5 and 4.86%,respectively,in the SB treatment;and to 3.19 dS m−1,0.88(mmolc dm−3)0.5 and 2.53%,respectively,in the CB *** bagasse biochar did not effectively reduce the salinity *** biochar treatments improved seed germination and plant *** SB,CB,SBG,and CBG treatments increased plant height(478–558%),shoot mass(783–983%),and root mass(386–500%),***,the application of SB and CB is an effective alternative to remediate saline-sodic soils and to reduce the impact of soil salinity in the environment.

关键词： Biochar Soil remediation Soil salinity Corn growth

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Peripheral clonal selection shapes the human γδ T-cell repertoire

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Cellular & Molecular Immunology 2017年第9期14卷 733-735页

作者： Biagio Di Lorenzo Julie Déchanet-Merville Bruno silva-santos Instituto de Medicina Molecular Faculdade de MedicinaUniversidade de Lisboa1649-028 LisbonPortugal Instituto Superior Tecnico Universidade de Lisboa1649-028 LisbonPortugal ImmunoConcept CNRS UMR 5164Equipe Labelisée Ligue Contre le CancerUniversity of BordeauxF-33000 BordeauxFrance

γδT cells are often placed at the interface between innate and adaptive *** cells share T-cell receptor(TCR)rearrangements and memory functions1 in common with theirαβT-cell counterparts but differ in terms of the... 详细信息

关键词： Figure kinetics selection

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Clinical and radiographic features of Hutchinson-Gilford progeria syndrome: A case report

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World Journal of Clinical Cases 2014年第3期2卷 67-71页

作者： Daniel Berretta Alves Juliana Melo silva Tatiany Oliveira Menezes Rosely santos Cavaleiro Fabrício Mesquita Tuji Marcio Ajudarte Lopes Alexandre augusto Zaia Ricardo Della Coletta Department of Radiology Esperanca Institute of Higher Learning Santarém-Pará 68040-100 Brazil Department of Endodontics Federal University of Pará Belém-Pará 66055-240 Brazil Department of Dentistry for Patients with Special Needs Federal University of Pará Belém-Pará 66055-240 Brazil Department of Oral and Maxillofacial Pathology Federal University of Pará Belém-Pará 66055-240 Brazil Department of Oral Diagnosis School of Dentistry State University of Campinas Piracicaba-Sao Paulo 13083-970 Brazil Department of Restorative Dentistry School of Dentistry State University of Campinas Piracicaba-Sao Paulo 13083-970 Brazil

Hutchinson-Gilford progeria syndrome(HGPS) is a rare dysmorphic syndrome characterized by several features of premature aging with clinical involvement of the skin, bones, and cardiovascular system. HGPS has an estimated incidence of one in four million to one in eight million births. The main clinical features of HGPS include short stature, craniofacial dimorphism, alopecia, bone fragility, and cardiovascular disorders. The most frequent cause of death is myocardial infarction at a mean age of 13 years old. Dental manifestations include delayed development and eruption of teeth, discoloration, crowding and rotation of teeth, and displaced teeth. Cone beam computed tomography images revealed the absence of the sphenoid, frontal, and maxillary sinus, flattening of the condyles and glenoid fossa, and bilateral hypoplasia of the mandibular condyles. The disease is caused by mutations in lamin A/C(LMNA). Here, we present a case report of an 11-year-old boy with classical features of HGPS, which was caused by a de novo germ-line mutation(C1824T, G608G) in exon 11 of the LMNA gene. Some uncommon HGPS-associated features in our patient, such as alterations in the facial sinuses and hypoplasia of the condyles, contributed to the expansion of the phenotypic spectrum of this syndrome from a dentomaxillofacial perspective.

关键词： Cone beam computed tomography LMNA mutation Craniofacial anomalies Temporomandibular joint

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Effect of propranolol on the splanchnic and peripheral renin angiotensin system in cirrhotic patients

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World Journal of Gastroenterology 2008年第44期14卷 6824-6830页

作者： Walkíria Wingester Vilas-Boas Antnio Ribeiro-Oliveira Jr Renata da Cunha Ribeiro Renata Lúcia Pereira Vieira Jerusa Almeida Ana Paula Nadu Ana Cristina Sim■es e silva Robson augusto Souza santos Laboratório de Hipertenso Departamento de Fisiologia e BiofísicaICB-UFMGAv. Antonio Carlos6627Belo HorizonteMG31270-901Brazil Laboratório de Endocrinologia Departamento de Clínica MédicaFaculdade de Medicina-UFMGAv. Alfredo Balena190Belo HorizonteMG30130-100Brazil Departamento de Pediatria Faculdade de MedicinaUniversidade Federal de Minas Gerais (UFMG)Av. Alfredo Balena190Belo HorizonteMG30130-100Brazil

AIM:To evaluate the effect of β-blockade on angiotensins in the splanchnic and peripheral circulation of cirrhotic patients and also to compare hemodynamic parameters during liver transplantation according to propranolol pre-treatment or not. METHODS:Patients were allocated into two groups:outpatients with advanced liver disease(LD) and during liver transplantation(LT). Both groups were subdivided according to treatment with propranolol or not. Plasma was collected through peripheral venipuncture to determine plasma renin activity(PRA),Angiotensin(Ang) Ⅰ,Ang Ⅱ,and Ang-(1-7) levels by radioimmunoassay in LD group. During liver transplantation,hemodynamic parameters were determined and blood samples were obtained from the portal vein to measure renin angiotensin system(RAS) ***:PRA,Ang Ⅰ,Ang Ⅱ and Ang-(1-7) were signifi cantly lower in the portal vein and periphery in all subgroups treated with propranolol as compared to non-treated. The relationships between Ang-(1-7) and Ang Ⅰ levels and between Ang Ⅱ and Ang Ⅰ were significantly increased in LD group receiving propranolol. The ratio between Ang-(1-7) and Ang Ⅱ remained unchanged in splanchnic and peripheral circulation in patients under β-blockade,whereas the relationship between Ang Ⅱ and Ang Ⅰ was significantly increased in splanchnic circulation of LT patients treated with propranolol. During liver transplantation,cardiac output and index as well systemic vascular resistance and index were reduced in propranolol-treated subgroup. CONCLUSION:In LD group,propranolol treatment reduced RAS mediators,but did not change the ratio between Ang-(1-7) and Ang Ⅱ in splanchnic and peripheral circulation. Furthermore,the modification of hemodynamic parameters in propranolol treated patients was not associated with changes in the angiotensin ratio.

关键词： β-blockade Cirrhosis Renin angiotensinsystem Angiotensin-(1-7)

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Diversity of mycorrhizal fungi and soil indicative species in coastal plantations of northeast Brazil

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Journal of Forestry Research 2021年第3期32卷 1203-1211页

作者： Olmar Baller Weber Maria Cátia Barroso da silva Cristiane Figueira da silva Diva Correia Deborah dos santos Garruti Marcela Claudia Pagano Embrapa Agroindústria Tropical Rua Dra.Sara Mesquita2270PiciFortalezaCeará60511-110Brazil Centro de Ciências E Tecnologia Universidade Estadual Do CearáAv.Dr.Silas Munguba1700Campus do ItaperiFortaleza 60740-000Brazil Universidade Federal Rural Do Rio de Janeiro BR 465 Km 7 Seropédica RJSeropédicaRio de Janeiro CEP 23890-000Brazil Universidade Federal de Minas Gerais Av.Antonio Carlos6627PampulhaBelo Horizonte 31270-001Brazil

The aim of this work was to evaluate arbuscular mycorrhizal(AM)fungi as soil indicators and the mycorrhization of native and exotic tree species planted in the Acaraúbasin,a transition area from the coast to the Brazilian semiarid *** with 6-year-old trees of four native and three non-native species as well as one non-forested area were evaluated in terms of the diversity of AM fungi in the mycorrhizosphere and the root colonization by AM and ectomycorrhizal(EcM)***-four AM fungi were identified;Claroideoglomus etunicatum,Glomus sinuosum,Paraglomus albidum,Acaulospora laevis,and Acaulospora brasiliensis were abundant in the forest ***,dominance,evenness and richness indices of AM fungi were higher in plots with native *** root samples were colonized by AM fungi and only A nadenanthera colubrina,Acacia mangium,Casuarina equisetifolia and Eucalyptus urophylla formed associations with EcM *** morphotypes served as soil indicators for coverings with the native species Astronium fraxinifolium and Colubrina *** species may favor the proliferation of rarer AM *** fungi–plant relationships may be important in the management of forest systems,and the evidence with mycorrhizal associations allows the inclusion of Brazilian species in tropical reforestation.

关键词： Acacia mangium Arbuscular mycorrhizal fungi Brazilian species Casuarina equisetifolia Ectomycorrhizal fungi Eucalyptus urophylla

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Boosting energy-storage capability in carbon-based supercapacitors using low-temperature water-in-salt electrolytes

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Journal of Energy Chemistry 2022年第7期31卷 521-530,I0013页

作者： Joao Pedro A.santos Manuel J.Pinzón érick A.santos Rafael Vicentini Cesar J.B.Pagan Leonardo M.Da silva Hudson Zanin Brazilian Renewable Energies Center for Innovation on New EnergiesSchool of Electrical and Computer EngineeringUniversity of CampinasSao Paulo 13083-852Brazil Department of Semiconductors Instruments and PhotonicsSchool of Electrical and Computer EngineeringUniversity of CampinasSao Paulo 13083-852Brazil Laboratory of Fundamental and Applied Electrochemistry Department of ChemistryFederal University of Jequitinhonha e Mucuri’s ValleyMinas Gerais 39100-000Brazil

Supercapacitors(SCs) are high-power energy storage devices with ultra-fast charge/discharge *** using concentrated aqueous-based electrolytes can work at low temperatures due to their intrinsic properties, such as higher freezing point depression(FPD) and robustness. Besides the traditional organic-and aqueous-based(salt-in-water) electrolytes used in SCs, water-in-salt(WISE) sodium perchlorate electrolytes offer high FPD, non-flammability, and low-toxicity conditions, allowing the fabrication of safer, environmentally friendly, and more robust devices. For the first time, this work reports a comprehensive study regarding WISE system’s charge-storage capabilities and physicochemical properties under low-temperature conditions(T < 0 ℃) using mesoporous carbon-based electrodes. The effect of temperature reduction on the electrolyte viscosity and electrical properties was investigated using different techniques and the in-situ(or operando) Raman spectroscopy under dynamic polarization *** cell voltage, equivalent series resistance, and specific capacitance were investigated as a function of the temperature. The cell voltage(U) increased ~ 50%, while the specific capacitance decreased ~20%when the temperature was reduced from 25 ℃ to -10 ℃. As a result, the maximum specific energy(E = CU^(2)/2) increased ~ 100%. Therefore, low-temperature WISEs are promising candidates to improve the energy-storage characteristics in SCs.

关键词： Carbon supercapacitors Water-in-salt electrolytes Low-temperature charge-storage Specific energy improvement at low temperatures

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