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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 crivel.aro 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

Antioxidant,hypolipidemic and hypoglycemic effect of red wine in wistar rats fed with obesogenic diet

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Food Bioscience 2022年第3期47卷 756-764页

作者： Cornélio Mucaca José henrique Tavares Filho Luciana lima Arruda André Martins Galvão Maria Bernadete de Sousa Maia Eryka Maria dos Santos Alves Eryvelton de Souza Franco Elizabeth do Nascimento department of Nutrition Center of Health SciencesFederal University of Pernambuco (UFPE)Cidade Universitaria50670-901RecifePEBrazil Rural Technology department Federal Rural University of Pernambuco (UFRPE)AD.Manoel de Medeiros Ave.s/nDois Irmãos52171-900RecifePEBrazil department of Physiology and Pharmacology Center of Biological SciencesFederal University of Pernambuco (UFPE)Cidade Universitaria50670-901RecifePEBrazil

The health benefits resulting from the usual ingestion of red wines have been studied in humans and ***,the evaluation of benefits in antioxidant,hypoglycemic and hypolipemic activity concomitant with the use of an obesogenic diet in adult Wistar rats has been little *** present study investigated the use of red wine derived from Northeast Brazil in adult rats fed with an obesogenic diet on antioxidant activity,glucose tolerance,adipose,glycemic and lipemic *** 45-day old male Wistar rats formed two groups:standard diet and westernized *** changes in body mass and glycemic levels,the animals were subdivided into six subgroups (n = 10 per group) and received water,red wine or hydroalcoholic solution by *** data reveal that the moderate and chronic use of red wine improves the glycemic,lipid and oxidative stress profile,being favorable in preventing the risk of cardiovascular diseases in rats fed with an obesogenic diet.

关键词： Dyslipidemia Obesity Rats Westernized diet Red wine

Distinguishing the Regional Atmospheric Controls on Precipitation Isotopic Variability in the Central-Southeast Portion of Brazil

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Advances in Atmospheric Sciences 2022年第10期39卷 1693-1708,I0018-I0020页

作者： Vinícius dos SANTOS Peter MARSHALL FLEMING Luís henrique MANCINI Stela DALVA SANTOS COTA Graziele Beatriz de lima Rafaela RODRIGUES GOMES Roberto Eduardo KIRCHHEIM Ricardo SANCHÉZ-MURILLO Didier GASTMANS São Paulo State University(UNESP) Environmental Studies Center.Av.24ABased1515-Bela Vista13.506-900Rio Claro(SP)Brazil Center for the development of the Nuclear Technology(CDTN-CNEN) Av.Presidente Antônio Carlos6.627Campus da UFMG-Pampulha31270-90Belo Horizonte(MG)Brazil Universidade de Brasília-UnB Instituto de GeociênciasLaboratório de Isótopos Estáveis.Campus"Darcy Ribeiro"Asa Norte70.910-900Brasília(DF)Brasil Hydrology and Territorial Management Directory(DHT) The Geological Survey of Brazil(CPRM-SGB)São Paulo(SP)Brazil University of Texas at Arlington Earth and Environmental Sciences Department500 Yates StreetArlingtonTexas76019USA Stable Isotopes Research Group and Water Resources Management Laboratory Universidad NacionalHerediaCosta Rica

Precipitation isotope ratios(O and H)record the history of water phase transitions and fractionation processes during moisture transport and rainfall ***,we evaluated the isotopic composition of precipitation over the central-southeastern region of Brazil at different *** isotopic compositions were associated with classical effects(rainfall amount,seasonality,and continentality),demonstrating the importance of vapor recirculation processes and different regional atmospheric systems(South American Convergence Zone-SACZ and Cold Fronts-CF).While moisture recycling and regional atmospheric processes may also be observed on a daily timescale,classical effects such as the amount effect were not strongly correlated(δ^(18)O-precipitation rate r≤-0.37).Daily variability revealed specific climatic features,such asδ^(18)O depleted values(~-6‰to-8‰)during the wet season were associated with strong convective activity and large moisture *** isotopic analysis revealed the role of different moisture sources and transport *** ratios combined with d-excess explain how atmospheric recirculation processes interact with convective activity during rainfall formation *** findings provide a new understanding of rainfall sampling timescales and highlight the importance of water isotopes to decipher key hydrometeorological processes in a complex spatial and temporal context in central-southeastern Brazil.

关键词： precipitation stable water isotopes d-excess moisture source and transport southern Atlantic Ocean and Amazon

Effectiveness of Helicobacter pylori eradication in the treatment of early-stage gastric mucosa-associated lymphoid tissue lymphoma:An up-to-date meta-analysis

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World Journal of Gastroenterology 2023年第14期29卷 2202-2221页

作者： Fabian Fellipe Bueno Lemos Caroline Tianeze de Castro Mariana Santos Calmon Marcel Silva Luz Samuel Luca Rocha Pinheiro Clara Faria Souza Mendes dos Santos Gabriel lima Correa Santos Hanna Santos Marques henrique Affonso delgado Kádima Nayara Teixeira Cláudio lima Souza Márcio Vasconcelos Oliveira Fabrício Freire de Melo Instituto Multidisciplinar em Saúde Universidade Federal da BahiaVitória da Conquista 45029094BahiaBrazil Instituto de Saúde Coletiva Universidade Federal da BahiaSalvador 40110040BahiaBrazil Campus Vitória da Conquista Universidade Estadual do Sudoeste da BahiaVitória da Conquista 45029094BahiaBrazil Campus Toledo Universidade Federal do ParanáToledo 85919899ParanáBrazil

BACKGROUND Gastric mucosa-associated lymphoid tissue(MALT)lymphoma(GML)is usually a low-grade B-cell neoplasia strongly associated with Helicobacter pylori(***)-induced chronic *** practice guidelines currently recommend *** eradication as the preferred initial treatment for early-stage *** determine the practical effect of bacterial eradication as the sole initial therapy for early-stage GML,an updated analysis and review of available evidence is *** To perform a meta-analysis to assess the rate of complete remission(CR)of ***-positive early-stage GML following bacterial *** We performed independent,computer-assisted literature searches using the PubMed/MEDLINE,Embase,and Cochrane Central databases through September *** and retrospective observational studies evaluating the CR of early-stage GML following bacterial eradication in ***-positive *** risk of bias was assessed using Joanna Briggs Institute(JBI)Critical Appraisal *** pooled estimate of the complete histopathological remission rate and respective confidence intervals(95%CI)were calculated following the random-effects *** and inconsistency were assessed using Cochran’s Q test and I2 statistic,and heterogeneity was defined as P50%,*** and meta-regression analyses were conducted to explore potential sources of *** The titles and abstracts of 1576 studies were screened;96 articles were retrieved and selected for full-text ***,61 studies were included in the proportional meta-analysis(P-MA).Forty-six were prospective and fifteen were retrospective uncontrolled,single-arm,observational *** overall risk of bias was low to moderate in all but a single report,with an average critical appraisal score across all studies of 79.02%.A total of 2936 ***-positive early-stage GML patients,in whom *** was successfully eradicated,were incl

关键词： Lymphoma B-cell Marginal zone Gastric mucosa-associated lymphoid tissue lymphoma Stomach lymphoma Helicobacter pylori Therapeutics Eradication therapy

Past,present and future of preserving and restoring function in the visual system:removing galectin-3 as a promising treatment

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Neural Regeneration Research 2017年第1期12卷 58-59页

作者： Silmara de lima henrique Rocha Mendonca Camila Oliveira Goulart Ana M.Blanco Martinez Laboratories for Neuroscience Research in Neurosurgery and F.M.Kirby Neurobiology Center Children's Hospital BostonDepartmentsof Surgery and Ophthalmology and Program in NeuroscienceHarvard Medical SchoolBostonMAUSA Laboratorio de Neurodegeneracao e Reparo-departamento de Patologia-Faculdade de Medicina-HUCFF-UFRJ-Rio de Janeiro-RJ Brazil Polo Universitairio Macae UFRJMacaeRJBrazil

Great advances in retinal ganglion cells survival（RGCs）,optic nerve preservation and regeneration have been made in the past ***,we know that RGCs are capable of regenerating the full length of the optic nerve,cross... 详细信息

关键词： RGCs preserving regeneration preservation galectin removing optic capable ganglion microglia

Unpaved rural roads as source areas of sediment in a watershed of the Brazilian semi-arid region

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International Journal of Sediment Research 2019年第5期34卷 475-485页

作者： Teresa Raquel lima Farias Pedro henrique Augusto Medeiros Joaquín Navarro-Hevia José Carlos de Araújo Federal Institute of Education Science and Technology of Ceará University of Valladolid Campus La Yutera Federal University of Ceará Department of Agricultural Engineering Campus do Pici

Approximately 80% of the road network in Brazil is unpaved and shows evidences of a high erosion potential. In the semi-arid Caatinga Biome in the northeast of the country, a monitoring programme has been done for two years in order to analyze runoff and sediment production from unpaved rural roadways and from embankments. Sediment production ranged from 0.30 to 0.92 Mg/ha yr, higher than in undisturbed areas, but generally lower than that reported for unpaved roads in other regions. However,this is a semi-arid area with low rainfall and runoff and, hence, with a limited hydrological connectivity and sediment production. Sediment production on an embankment with no vegetation was around ten times higher than on an embankment with vegetation. On the road surface, annual sediment production(normalized for gradient) in a section with traffic was three times higher than for a road surface without traffic. In addition, events that occurred after roadway maintenance activities generated peaks of sediment concentration of over 5000 mg/L. These results suggest that sediment production from roads and embankments with bare surfaces is at least one order of magnitude higher than in undisturbed catchment areas. Maintenance activity and vehicle traffic contribute to an increase in sediment availability and impact on the sediment concentration, but less intensely on sediment loads, which depend on the runoff magnitude of the events occurring after roadway maintenance. It was also found that the natural vegetation of the semi-arid region potentially captures sediment on roadway embankments; thereby playing an important role in breaking connectivity between the sediment flow from unpaved roads and the natural drainage system of the catchment.

关键词： Sediment production Caatinga vegetation Road maintenance Embankment

Conocarpus erectus L., a plant with a high content of structural sugars, ions and phenolic compounds, shows antioxidant and antimicrobial properties promoted by different organic fractions

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Asian Pacific Journal of Tropical Biomedicine 2018年第9期8卷 463-470页

作者： Dayane Kelly Dias do Nascimento Santos Weslley henrique de Oliveira Melo Anastassia Mariáh Nunes de Oliveira lima Iranildo Joseda Cruz Filho Glaucia Manoella de Souza lima Tulio Diego da Silva Maiara Celine de Moura Marcia Silva do Nascimento Ana Maria Souto Maior Thiago henrique Napoleao Cristiane Moutinho Lagos de Melo department of Biochemistry Biosciences Centre Federal University of Pernambuco department of Antibiotics Biosciences Centre Federal University of Pernambuco Center of Strategic Technologies of the Northeast

Objective: To evaluate the structural and chemical composition of plant and the antioxidant and antimicrobial activities promoted by hexanic, ethanolic and ethyl acetate fractions obtained from leaves of Conocarpus ***: Organic fractions were characterized through UPLC-MS and *** potential was performed through DPPH and molybdenum phosphate *** and antifungal assays were performed in accordance with Clinical and Laboratory Standards Institute ***: The obtained biomass of Conocarpus erectus leaves showed the high presence of glucose(0.45 g/L), cellulose(28.69%), Na(55.126 μg/L) and K(31.163 μg/L).We identified seven compounds in the hexanic and ethyl acetate fractions, and eight compounds in ethanolic ***, phenolic compounds are prevalent in all organic fractions with values of(10.04 ± 0.24),(221.26 ± 1.84),(340.53 ± 0.84) mg/g GAE to hexanic, ethyl acetate and ethanolic fraction, *** results showed a high potential in ethyl acetate fraction(71.82 ± 6.87)% and(10.89 ± 0.05)% in DPPH and molybdenum phosphate techniques, *** ethanolic fraction showed moderate bacteriostatic and bactericidal activity against Staphylococcus aureus and presented a high fungistatic potential for all Candida species ***: Organic fractions obtained from leaves of Conocarpus erectus present antimicrobial and antioxidant properties, and these findings contribute to scientific information for the effectiveness on use of this plant in the development of a phytotherapic compound.

关键词： Combretaceae Phenolic compounds Antimicrobial activity Antioxidant

Autoregressive spatial analysis and individual tree modeling as strategies for the management of Eremanthus erythropappus

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Journal of Forestry Research 2016年第3期27卷 595-603页

作者： henrique Ferraco Scolforo Jose Roberto Soares Scolforo Jose Marcio de Mello Anto nio Carlos Ferraz Filho Diogo Francisco Rossoni Thiza Falqueto Altoe Antonio Donizette Oliveira Renato Ribeiro de lima department of Forest Science Federal University of Lavras PO Box: 3037 Lavras MG 37200-000 Brazil department of Statistics State University of Maringa Av. Colombo 5.790 Jd. Universitario Bloco E90 Maringa PR 87020-900 Brazil department of Statistics Federal University of Lavras PO Box: 3037 Lavras MG 37200-000 Brazil

The objectives of this study were to apply statistical techniques to discriminate fertilization treatments of Eremanthus erythropappus（DC.） Mac *** autoregressive modeling, and to develop individual tree models for diameter and crown area（CA） projection to define management strategies for candeia plantations subjected to different fertilization treatments. This is an important tree species originating from the Brazilian Atlantic Rain forest and Savannah biomes, intensively used in the cosmetic industry. Nonetheless, to date, research has not addressed the management of natural stands or plantations of the species. Our experiment was located in Baependi, Minas Gerais, Brazil, and comprised of four randomized blocks and 13 treatments. The treatments consisted of 12 different regimes of fertilization plus a control. Each sample plot was composed of 50 plants plus two border plants in a planting spacing of 2.5 9 2.0 m and undergoing pruning at 5 and 6 years of age. Starting in the second year, total tree height（H） and circumference（at 1.30 m from the ground or breast height, CBH） were measured every 6 months. Starting in the fifth year CA was measured. Tree growth varied by fertilization *** were detected by using an autoregressive approach, considering that standard statistical methods were not powerful enough to detect significant *** growth groups were formed, and maximum growth was obtained for treatment 10（NPK, 8-28-16）. Management guidelines are provided based on individual tree models for different fertilization levels.

关键词： Management strategies Candeia Fertilization level Brazil Crown area

Energetic-protein supplementation in the last 60 days of gestation improves performance of beef cows grazing tropical pastures

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Journal of Animal Science and Biotechnology 2018年第1期9卷 208-216页

作者： Aline Gomes da Silva Mário Fonseca Paulino Edenio detmann henrique Jorge Fernandes Lincoln da Silva Amorim Román Enrique Maza Ortega Victor Valério de Carvalho Josilaine Aparecida da Costa lima Felipe henrique de Moura Mariana Benevides Monteiro Jéssika Almeida Bitencourt Universidade Federal de Vicosa VicosaMinas Gerais 36570-000Brazil Universidade Federal de Mato Grosso do Sul Campo GrandeMato Grosso do Sul 79074-460Brazil Universidade Estadual de Mato Grosso do Sul AquidauanaMato Grosso do Sul 79200-000Brazil Biotran Biotecnologia e Treinamento em Reproducao Animal AlfenasMinas Gerais 37130-000Brazil Universidade Federal do Acre Rio BrancoAcre 69920-900Brazil

Background： Nutrition is one of the most important factors that affect animal performance, and it therefore also impacts on financial results in beef systems. In this way, finding the best strategy for feeding supplements is of paramount importance. Aiming to evaluate the effect of supplement feeding strategies for beef cows in the last third of gestation, two experiments were conducted. In Experiment 1, 35 pregnant Nellore cows were assigned to a completely randomized design with four treatments： control, which received no supplement; supplementation for the last 30 d of gestation（30-d; 3.0 kg/d）; supplementation for the last 60 d of gestation（60-d; 1.5 kg/d）; or supplementation for the last 90 d of gestation（90-d; 1.0 kg/d）. All supplemented treatments received the same total amount of supplement throughout the experiment： 90 kg（20% of crude protein）. A second experiment（Experiment 2） was delineated to evaluate the effects of the amounts offered in Experiment 1 on intake and metabolism. Four multiparous pregnant Nellore cows were assigned to a 4 × 4 Latin square design, with periods of15 d ***： There was a linear effect of the number of days of supplementation on calving body weight（BW; P 〈 0.05）and a quadratic effect on BW change from parturition to d 31 post-calving（P 〈 0.05）, with cows on the 60-d strategy losing less BW post-calving. No difference was found in offspring birth BW（P 〉 0.10）. A significant linear effect on interval from parturition to conception（P 〈 0.05） was observed, with the highest calving to conception interval being observed in the 90-d strategy. The level of supplementation did not affect forage intake or neutral detergent fiber digestibility（P 〉 0.10）. Nitrogen excreted through urine tended to increase linearly with the level of supplementation（P 〈 0.10）.Conclusion： Providing 1.5 kg of supplement during the last 60 d of gestation improves cow performance after calving, reducing the magnitude of BW lost, and reduces the number of

关键词： Flushing Nutrition Parturition Reproduction