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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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Downregulation of TNFR2 decreases survival gene expression,promotes apoptosis and affects the cell cycle of gastric cancer cells

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World journal of Gastroenterology 2022年第24期28卷 2689-2704页

作者： Ana Flávia Teixeira Rossi Fernanda da Silva Manoel-Caetano joice Matos Biselli Ágata Silva Cabral Marilia de Freitas calmon Saiki Marcelo Lima Ribeiro Ana Elizabete Silva Department of Biological Sciences Sao Paulo State University(UNESP)São Josédo Rio Preto 15054-000São PauloBrazil Clinical Pharmacology and Gastroenterology Unit São Francisco University(USF)Bragança Paulista 12916-900São PauloBrazil

BACKGROUND Chronic inflammation due to Helicobacter pylori(***)infection promotes gastric *** necrosis factor-α(TNF-α),a key mediator of inflammation,induces cell survival or apoptosis by binding to two receptors(TNFR1 and TNFR2).TNFR1 can induce both survival and apoptosis,while TNFR2 results only in cell *** dysregulation of these processes may contribute to *** To evaluate the effects of TNFR1 and TNFR2 downregulation in AGS cells treated with *** extract on the TNF-α*** AGS cell lines containing TNFR1 and TNFR2 receptors downregulated by specific shRNAs and nonsilenced AGS cells were treated with *** extract for 6 ***,quantitative polymerase chain reaction with TaqMan®assays was used for the relative quantification of the mRNAs(TNFA,TNFR1,TNFR2,TRADD,TRAF2,CFLIP,NFKB1,NFKB2,CASP8,CASP3)and miRNAs(miR-19a,miR-34a,miR-103a,miR-130a,miR-181c)related to the TNF-αsignalling *** cytometry was employed for cell cycle analysis and apoptosis *** In nonsilenced AGS cells,*** extract treatment increased the expression of genes involved in cell survival and inhibited both apoptosis(NFKB1,NFKB2 and CFLIP)and the TNFR1 ***1 downregulation significantly decreased the expression of the TRADD and CFLIP genes,although no change was observed in the cellular process or miRNA *** contrast,TNFR2 downregulation decreased the expression of the TRADD and TRAF2 genes,which are both important downstream mediators of the TNFR1-mediated pathway,as well as that of the NFKB1 and CFLIP genes,while upregulating the expression of miR-19a and ***,a reduction in the number of cells in the G0/G1 phase and an increase in the number of cells in the S phase were observed,as well as the promotion of early *** Our findings mainly highlight the important role of TNFR2 in the TNF-αpathway in gastric cancer,indicating that silencing it can reduce the

关键词： Gastric cancer Helicobacter pylori Tumour necrosis factor-αsignalling pathway TNFR1 TNFR2 miRNAs

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Some Tools to Model Ground or Supply Bounces Induced in and out of Heterogeneous Integrated Circuits

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Computer Technology and Application 2011年第10期2卷 788-800页

作者： Christian Gontrand Olivier Valorge Rabah Dahmanil Fengyuan Sun Francis calmon jacques Verdier Paul Dautriche Universite de Lyon INSA- Lyon INL CNRS-UMR5270 Villeurbanne F-69621 France R3 Logic 50 chemin de l＇Etoile Monbonnot-Saint-Martin 38330 France STMicroelectronics 12 Rue Jules Horowitz 38019 Grenoble Cedex 9 France

Electrical ground looks simple on a schematic; unfortunately, the actual performance of a circuit is dictated by its layout （and by its printed-circuit-board）. When the ground node moves, system performance suffers and the system radiates electromagnetic interferences. But the understanding of the physics of ground noise can provide an intuitive sense for reducing the problem. Ground bounce can produce transients with amplitudes of volts; most often changing magnetic flux is the cause; in this work, the authors use a Finite-Difference Time-Domain to begin to understand such phenomena. Additionally, predicting substrate cross-talks in mixed-signal circuits has become a critical issue to preserve signal integrity in future integrated systems. Phenomena that involve parasitic signal propagation into the substrate are discussed. A simple methodology to predict the substrate cross-talk and some associated tools are presented. Finally, the authors indicate a stochastic method which could grasp both outer or inner RF （Radio-Frequency） radiations and substrate parasites.

关键词： Electromagnetism 3D (three-dimensional) integration noise TSV (through silicon vias) ground or supply bounce mixed analog-digital integrated circuits substrate noise stochastic methodology.

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Analytical and Numerical Model Confrontation for Transfer Impedance Extraction in Three-Dimensional Radio Frequency Circuits

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Circuits and Systems 2012年第2期3卷 126-135页

作者： Olivier Valorge Fengyuan Sun jean-Etienne Lorival Mohamed Abouelatta-Ebrahim Francis calmon Christian Gontrand Faculty of Engineering-Ain Shams University Cairo Egypt R3 Logic Inc. Monbonnot-Saint-Martin France Université de Lyon Villeurbanne France

3D chip stacking is considered known to overcome conventional 2D-IC issues, using through silicon vias to ensure vertical signal transmission. From any point source, embedded or not, we calculate the impedance spread out;our ultimate goal will to study substrate noise via impedance field method. For this, our approach is twofold: a compact Green function or a Transmission Line Model over a multi-layered substrate is derived by solving Poisson’s equation analytically. The Discrete Cosine Transform (DCT) and its variations are used for rapid evaluation. Using this technique, the substrate coupling and loss in IC’s can be analyzed. We implement our algorithm in MATLAB;it permits to extract impedances between any pair of embedded contacts. Comparisons are performed using finite element methods.

关键词： Through Silicon Via (TSV) Green’s Function Transmission Line Model Radio Frequency (RF) Transfer Impedance Extraction

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The“microwave oven”practice in Brazil

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Forensic Sciences Research 2022年第4期7卷 628-632页

作者： Yara Vieira Lemos Luciene Menrique Corradi Melina calmon Silva Lorena de Oliveira Couto Giovanna Hooper Bittencourt Alexander Santos Dionísio Adriana Zatti Lima Márcio Alberto Cardoso Eugénia Cunha Forensic Anthropology Laboratory Medico-Legal Institute AndréRoquette in Belo HorizonteMinas GeraisBrazil Medical Sciences Faculty of Minas Gerais Minas GeraisBrazil Brazilian Association of Forensic Anthropology(ABRAF) BrasíliaBrazil.

This article presents a forensic case of an unusual illegal cremation of a person using a process colloquially known as the“microwave oven”practice in *** microwave process involves two actions:placing the victim in a tire stack and then setting the structure on fire using flammable substances to accelerate the *** practice,identified as“necklacing”,has also been reported in other countries such as South *** report presents a case of microwave oven cremation of a body found in a rural area of Minas Gerais,*** forensic work helped determine the biological profile and identity of the victim using radiological *** the microwave oven cremation practice is rare,it can impose challenges for ***,fully understanding this practice can be helpful to the academic and forensic communities.

关键词： Forensic sciences carbonization cremation homicide human identification

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Insights into Three-Dimensional Radiofrequency Circuits Connections

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Computer Technology and Application 2011年第6期2卷 456-470页

作者： Rabah Dahmani Olivier Valorge Fengyuan Sun Samir Labiod Francis calmon Saida Latreche Ian O＇Connor Christian Gontrand INL CNRS-UMR5270 INSA-Lyon Universite de Lyon Villeurbanne F-69621 France R3 Logic 50 chemin de l ＇Etoile Monbonnot-Saint-Martin 38330 France Laboratoire Hyperfrdquence ＆ Semi-conducteur Ddpartement d＇Electronique Facultd des Sciences de l ＇Ingdnieur Universite Mentouri Constantine 25000 Algeria

The authors state briefly the possibility of various simulators to handle propagation of electromagnetic waves along some interconnections, in 3D RF （Radio Frequency） circuits. The studies are first derived in the time domain： a Finite-Difference Time-Domain method is applied, taking spectra via FFTs （Fast Fourier Transform） as post-processors. Electric and magnetic field distributions, pulse propagations along stripline structures or vias are highlighted. The scattering parameters for various cases are extracted and compared. Some original issue of this work is an insight on crosstalk or shielding phenomena between lines.

关键词： Maxwell's equations radio frequency (RF) numerical methods shielding effects through silicon via.

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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

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Pediatric multisystem inflammatory syndrome associated with COVID-19: Insights in pathogenesis and clinical management

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World journal of Virology 2023年第3期12卷 193-203页

作者： Marcel Silva Luz Fabian Fellipe Bueno Lemos Samuel Luca Rocha Pinheiro Hanna Santos Marques Luís Guilherme de Oliveira Silva Mariana Santos calmon Karolaine da Costa Evangelista 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 45029-094BahiaBrazil

The pandemic caused by severe acute respiratory syndrome coronavirus 2(SARS-CoV-2)infection has been a major challenge to be faced in recent *** adults suffered the highest morbidity and mortality rates of coronavirus disease 2019,children were thought to be exclusively asymptomatic or to present with mild ***,around April 2020,there was an outbreak of a new clinical syndrome related to SARS-CoV-2 in children-multisystemic inflam-matory syndrome in children(MIS-C)-which comprises a severe and uncon-trolled hyperinflammatory response with multiorgan *** Centers for Disease Control and Prevention considers a suspected case of MIS-C an individual aged2)organ involvement,no alternative plausible diagnoses,and positive for recent SARS-CoV-2 *** its severity,there are no definitive disease management guidelines for this ***,the complex pathogenesis of MIS-C is still not completely understood,although it seems to rely upon immune ***,in this study,we aim to bring together current evidence regarding the pathogenic mechanisms of MIS-C,clinical picture and management,in order to provide insights for clinical practice and implications for future research directions.

关键词： Pediatric multisystem inflammatory disease COVID-19 related Multisystem inflammatory syndrome in children COVID-19 SARS-CoV-2 Etiology Disease management

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儿童高级别中线丘脑胶质瘤的MRI及分子特征：HERBY Ⅱ期临床试验

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国际医学放射学杂志 2022年第5期 603-604页

作者： D.Rodriguez R.calmon E.S.Aliaga D.Warren M.Warmuth-Metz C.jones 邓亚鑫王浩入

摘要弥漫性中线胶质瘤（DMG）的特点是H3 K27突变发生率高、预后较差。HERBY临床试验提供了可用的影像学、组织学-基因型和生存数据，是儿童DMG最大的研究队

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组蛋白H3F3A和HIST1H3B K27M突变将桥脑内弥漫型胶质瘤分为不同的预后和表型

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临床与实验病理学杂志 2016年第1期32卷 90-90页

作者： Castel D Philippel C calmon R 李晓玲(译) 王行富(审校) 不详福建医科大学附属第一医院病理科福州350005

桥脑内弥漫型胶质瘤是最致命的儿童实体瘤，在过去50年里依然未取得显著的治疗进展。最近的研究表明，伴有H3B K27M突变的中线弥漫型胶质瘤可能包含不止一个生物学类型。该文回顾性研究91例经典桥脑内弥漫型胶质瘤，均经立体定位活检证... 详细信息

桥脑内弥漫型胶质瘤是最致命的儿童实体瘤，在过去50年里依然未取得显著的治疗进展。最近的研究表明，伴有H3B K27M突变的中线弥漫型胶质瘤可能包含不止一个生物学类型。该文回顾性研究91例经典桥脑内弥漫型胶质瘤，均经立体定位活检证实。组蛋白H3B基因突变通过免疫组化和直接测序法评估，应用芯片检测全基因表达谱和染色体异常。将患者初诊及复发时完整的MRI结果与分子谱资料和临床预后整合分析，除1例外所有桥脑内弥漫型胶质瘤伴有体细胞H3B K27M突变和（或）H3BK27三甲基化丢失。

关键词：基因突变临床预后胶质瘤弥漫型组蛋白脑内表型立体定位活检

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