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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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Evaluation of the Acoustic Environment in a Protestant Church Based on Measurements of Acoustic Descriptors

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Journal of Building Construction and Planning Research 2016年第3期4卷 172-189页

作者： samuel Ansay Paulo henrique Trombetta Zannin Laboratory of Environmental and Industrial Acoustics and Acoustic Comfort Federal University of Paraná Curitiba Brazil

The new guidelines of the Catholic Church are in line with the guidelines adopted by Protestant churches since the Reformation, unifying appreciation for the liturgical practices of preaching and congregational singing. These guidelines require that the room, in this case the church, provides appropriate acoustic characteristics, which can be characterized by acoustic descriptors such as Reverberation Time (RT), Clarity (C80) and Definition (D50). In this article, we analyzed the acoustic quality of a protestant church whose design tried to follow these guidelines. Our findings revealed the poor quality of the acoustic environment in terms of both speech intelligibility and music. These findings emphasized the need to adopt not only Reverberation Time but also other acoustic descriptors such as Clarity and Definition in church design.

关键词： Acoustic Quality Church Clarity Definition Reverberation Time

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Glutamine prevents oxidative stress in a model of mesenteric ischemia and reperfusion

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World Journal of Gastroenterology 2014年第32期20卷 11406-11414页

作者： Gilmara Pandolfo Zabot Gustavo Franco Carvalhal Norma Possa Marroni Renata Minuzzo Hartmann Vinícius Duval da silva henrique sarubbi Fillmann Department of surgery School of Medicine Pontifical Catholic University of Rio Grande do Sul Porto Alegre RS 90610-000 Brazil Department of Gastroenterology School of Medicine Federal University of Rio Grande do Sul Porto Alegre RS 90035-903 Brazil Department of Pathology School of Medicine Pontifical Catholic University of Rio Grande do SulPorto Alegre RS 90610-000 Brazil

AIM: To evaluate preventative effects of glutamine in an animal model of gut ischemia/reperfusion (I/R).

关键词： Ischemia-reperfusion Glutamine Lipid peroxidation superoxide dismutase Nuclear factor-kappa beta Interleukin 6

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Hepatitis B virus prevalence and transmission risk factors in inflammatory bowel disease patients at Clementino Fraga Filho university hospital

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World Journal of Gastroenterology 2008年第20期14卷 3201-3206页

作者： Yolanda Faia Manhes Tolentino Homero soares Fogaa Cyrla Zaltman Lia Laura Lewis Ximenes henrique sérgio Moraes Coelho Internal Medicine Department Gastroenterology Unit of Clementino Fraga Filho University Hospital Federal University of Rio de Janeiro Rio de Janeiro 21941-913 Brazil Virology Department OswaldoCruz Foundation 21045-900 Brazil

AIM: To evaluate the prevalence of hepatitis B virus (HBV) infection in inflammatory bowel disease (IBD) patients that followed up in our hospital and try to identify the possible risk factors involved in this infection transmission. METHODs: This was a cross-sectional study for which 176 patients were selected according to their arrival for the medical interview. All these patients had already IBD diagnosis. The patient was interviewed and a questionnaire was filled out. REsULTs: In the group of 176 patients whom we examined, we found that 17% (30) were anti-HBc positive. Out of 30 patients with positive anti-HBc, 2.3% (4) had positive HBsAg and negative HBV-DNA. In an attempt to identify the possible HBV infection transmission risk factors in IBD patients, it was observed that 117 patients had been submitted to some kind of surgical procedure, but only 24 patients had positive anti-HBc (P = 0.085). It was also observed that surgery to treat IBD complications was not a risk factor for HBV infection transmission, since we did not get a statically significant P value. However, IBDpatients that have been submitted to surgery to treat IBD complications received more blood transfusions then patients submitted to other surgical interventions (P = 0.015). CONClusION: There was a high incidence of positive anti-HBc (17%) and positive HBsAg (2.3%) in IBD patient when compared with the overall population (7.9%).

关键词： Inflammatory bowel disease Hepatitis Bvirus Prevalence Risk factors

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Rhyacian-Orosirian tectonic history of the Juiz de Fora Complex:Evidence for an Archean crustal reservoir within an island-arc system

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Geoscience Frontiers 2022年第5期13卷 350-369页

作者： Rasec Almeida Vitalino Elizeu henrique Bruno samuel Moreira Bersan lucas Eduardo de Abreu Barbosa Araujo Ivo Dussin Claudio de Morisson Valeriano Carla Neto Monica Heilbron Universidade do Estado do Rio de Janeiro Faculdade de GeologiaTektos–Grupo de Pesquisa em GeotectônicaRua São Francisco Xavier 524MaracanãRio de JaneiroBrazil Laboratório de Geocronologia e Isótopos Radiogênicos Universidade do Estado do Rio de JaneiroRua São Francisco Xavier 524MaracanãRio de JaneiroBrazil

The southern são Francisco Paleocontinent(sFP)comprises Archean nuclei and Paleoproterozoic complexes encompassing magmatic arcs juxtaposed during a Rhyacian to Orosirian orogenic *** Juiz de Fora Complex(JFC)represents an imbricated thrust system that comprises orthogranulites with a wide compositional range formed in an intra-oceanic setting during the siderian to the Orosirian and later accreted to the southeastern margin of the *** we report new petrological,geochemical,whole-rock Nd and sr data,as well as zircon U–Pb ages from felsic and mafic orthogranulites from the *** new data is combined with a regional compilation that enables an evaluation of the interaction between magmatism and orogenetic episodes in the context of the consolidation of são Francisco Paleocontinent during the Rhyacian–*** collisional Island Arc tholeiites(IAT),Tonalites-Tron dhjemites-Granodiorites(TTGs)and sanukitoid magmatism occurred from 2200 Ma to 2085 *** was followed by post-collisional magmatism,which is represented by hybrid granitoids coeval with the emplacement of E-MORB basic *** signatures for the Rhyacian to Orosirian evolution are highlighted by the dominance of negativeεNd(t)associated with Meso-to Neoarchean Nd TDMmodel ages as well as inherited zircon grains from the hybrid *** JFC is extensively highlighted in the literature as a primitive intra-oceanic arc,but here we propose the reworking or recycling of ancient crustal segments within the mature arc stage of the JFC,suggesting a Mesoarchean crustal source involved in the JFC evolution.

关键词： Juiz de Fora complex Paleoproterozoic magmatic arc TTG and sanukitoid são Francisco Paleocontinent

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Fast Tool for structural Monitoring of a Pier After Impact of a Very Large Vessel Using Ambient Vibration Analysis

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Journal of Marine science and Application 2021年第2期20卷 317-324页

作者： Thiago henrique Walnorio Ferreira Cláudio Martins Civil Engineering Department UFESVitoria PO 29075-910Brazil Civil Engineering Department CEFETSBelo Horizonte PO 30421-169Brazil

Operational modal analysis is a non-destructive structural investigation that considers only the loads resulting from service *** approach allows the measurement of vibrations on a given structure with no need to interrupt its *** present work aims to develop a numerical model to represent the global structural behavior of a vessel breasting dolphin using a technique that is simple and cheap in order to obtain a fast answer about the stiffness of a pier after the collision of ships with capacity up to 400,000 *** determine the modes of vibration,one accelerometer was installed on the breasting dolphin located on the pier and a frequency domain technic was conducted over recorded data to obtain modal parameters of the *** situ measurements were compared to data from a finite element model based on the original structural design in order to adapt the model to accurately represent the actual behavior of the *** allowed a reliable structural analysis that accounted for existing structural damage and *** results of the experiment presented herein are the numerical characterization of the structure,along with the structural analysis to assess the degree of damage currently observed on the *** is noted that the dolphin subjected to ship impacts presents a reduction in stiffness of approximately10%and its global damage level can be monitored from now after new accidents.

关键词： structural health monitoring Ambient vibration analysis Natural frequency Dynamics of structures Marine structures

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The role of hypoxia-induced factor 1α in breast cancer

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Journal of Cancer Metastasis and Treatment 2019年第6期4卷 44-54页

作者： Carlos henrique F.Peiró Jéssica A.Encina Matheus M.Perez Glauco s.A.Aquino Glaucia L.Veiga Fernando Fonseca Beatriz C.A.Alves Laboratório de Análises Clínicas da Faculdade e Medicina do ABC Santo AndréSP CEP 09060-650Brazil Instituto de Ciências Farmacêuticas Universidade Federal de São PauloDiademaSP CEP 09972-270Brazil

Breast cancer usually grows very quickly,becoming insensitive to blood flow in nearby veins;because of that,inside solid tumors it's possible to find a hypoxic environment,in other words,an environment where oxygen is less *** feature of cancer is its angiogenesis rate,because of the high energy demand,new blood vessels must be produced to take nutrients inside the solid tumor *** with normal blood flow bringing the cancer oxygen and nutrients,its cells favor hypoxia,in an event known as Warburg *** to the Warburg Effect,cells,even with normal oxygen rates,prefer to use fermentation instead of the citric acid cycle to produce *** the cancer to operate normally in hypoxia,a transcription factor family is activated,known as hypoxia-induced factors(HIF),composed of a HIF-1βand a HIF-1α*** HIF-1αis expressed during hypoxia,it is a great target for treatments and a breast cancer *** of the role of HIF-1αin cancer and the high incidence of breast cancer worlwide,this review was performed in order to bring the most recent results concerning the role HIF-1αcan exert in breast cancer development and progression.

关键词： Breast neoplasms hypoxia-induced factor 1 HIF-1α

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High-throughput phenotyping of two plant-size traits of Eucalyptus species using neural networks

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Journal of Forestry Research 2022年第2期33卷 591-599页

作者： Marcus Vinicius Vieira Borges Janielle de Oliveira Garcia Tays silva Batista Alexsandra Nogueira Martins silva Fabio henrique Rojo Baio Carlos Antônio da silva Junior Gileno Brito de Azevedo Glauce Taís de Oliveira sousa Azevedo Larissa Pereira Ribeiro Teodoro Paulo Eduardo Teodoro Federal University of Mato Grosso Do sul(UFMs) Chapadão Do SulMato Grosso Do Sul 79560000Brazil Department of Geography State University of Mato Grosso(UNEMAT)SinopMato Grosso 78555000Brazil

In forest modeling to estimate the volume of wood,artificial intelligence has been shown to be quite effi-cient,especially using artificial neural networks(ANNs).Here we tested whether diameter at breast height(DBH)and the total plant height(Ht)of eucalyptus can be pre-dicted at the stand level using spectral bands measured by an unmanned aerial vehicle(UAV)multispectral sensor and vegetation *** do so,using the data obtained by the UAV as input variables,we tested different configurations(number of hidden layers and number of neurons in each layer)of ANNs for predicting DBH and Ht at stand level for different Eucalyptus *** experimental design was randomized blocks with four replicates,with 20 trees in each experimental *** treatments comprised five Eucalyptus species(***,***,***,***-dis,and ***)and Corymbria *** and Ht for each plot at the stand level were measured seven times in separate overflights by the UAV,so that the multispectral sensor could obtain spectral bands to calculate vegetation indices(VIs).ANNs were then constructed using spectral bands and VIs as input layers,in addition to the categorical variable (species), to predict DBH and Ht at the stand level simultaneously. This report represents one of the first appli-cations of high-throughput phenotyping for plant size traits in Eucalyptus species. In general, ANNs containing three hidden layers gave better statistical performance (higher esti-mated r, lower estimated root mean squared error-RMsE) due to their greater capacity for self-learning. Among these ANNs, the best contained eight neurons in the first layer, seven in the second, and five in the third (8 − 7 − 5). The results reported here reveal the potential of using the gener-ated models to perform accurate forest inventories based on spectral bands and VIs obtained with a UAV multispectral sensor and ANNs, reducing labor and time.

关键词： Computational intelligence Diameter at breast height Forest inventory Remote sensing Vegetation indices

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Lafoensia pacari alleviates intestinal damage by modulating cyclooxygenase-2:In silico and in vivo evaluation in a colitis model

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World Journal of Gastroenterology 2023年第17期29卷 2628-2641页

作者： Gabrielle Caroline Peiter Thayene Kamyli Moesch Queiroz Edson luiz Michalkiewicz Jr Raphael henrique Chappuis Jennefer sousa luz luiz henrique Casagrande Piovezani Cleison Ferreira silva Matheus Nozomi Tsutumi Augusto Fernandes Chaves Rafael Messias luiz Cinthia Façanha Wendel Ana Carla Zarpelon-schutz Kádima Nayara Teixeira Programa Multicêntrico de Pós-graduação em Biquímica e Biologia Molecular-setor Palotina Universidade Federal do ParanáPalotina 85.950-000ParanáBrazil Programa de Pós-graduação em Biotecnologia-setor Palotina Universidade Federal do ParanáPalotina 85.950-000ParanáBrazil Campus Toledo Universidade Federal do ParanáToledo 85.919-899ParanáBrazil

BACKGROUND Inflammatory bowel diseases(IBD)are a worldwide health problem and mainly affect young people,consequently affecting the *** treatments are often associated with side effects,and new therapeutic options are *** centuries,plants have represented important substrates in the field of drug *** pacari(***)is a plant whose pharmaceutical potential has been described,and may have biological activity relevant to the treatment of IBD *** To investigate the activity of keto-alcoholic extracts of *** with respect to ameliorating the inflammatory and nociceptive symptoms of acute experimental colitis in *** Keto-alcoholic extracts of *** leaves and bark were administered to male andfemale swiss mice weighing 25 g to 30 g(n=8 male mice and n=8 female mice).The effect of these extracts was observed in an acetic acid-induced acute experimental model of colitis with regard to antinociception/analgesia and inflammatory tissue *** macroscopic indices included the Wallace score and the colon weight obtained using a precision *** hyperalgesia was determined using an electronic *** related to overt pain was determined by quantifying the number of writhing instances within 20 min of administration of acetic *** docking was performed using human and murine cyclooxygenase-2(COX-2)with 3 flavonoids(ellagic acid,kaempferol,and quercetin)on the AutoDock Vina *** of variance followed by Tukey’s posttest was used with Ps murine model of colitis,administration of extracts from *** ameliorated acetic acidinduced writhing and colitis-associated inflammatory *** improvements may be attributable to the reduction in edema,inflammation(e.g.,ulcers,hyperemia,and bowel wall damage),and the intensity of abdominal *** keto-alcoholic extracts of *** leaves and bark administered at a

关键词： Antinociceptive activity Anti-inflammatory activity Cyclooxygenase-2 Flavonoids Inflammatory bowel disease Lafoensia pacari

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Microkernel Development for Embedded systems

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Journal of software Engineering and Applications 2013年第1期6卷 20-28页

作者： Rodrigo Maximiano Antunes de Almeida luis henrique de Carvalho Ferreira Carlos henrique Valério IEsTI-systems Engineering and Information Technology Institute UNIFEI-Federal University of Itajubá Itajubá Brazil.

This paper presents the development of a microkernel with a device driver controller for embedded systems. The implementation was done in C language aiming low cost microcontrollers. The proposed system allowed to perform soft real-time activities while keeping the drivers and the application isolated by a secure layer. The callback system proved itself extremely simple to use while still maintaining the security of the system regarding the temporal constraints.

关键词： Embedded systems Microkernel Device Driver Controller Hardware Devices Callback

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