检索结果-内蒙古大学图书馆

Growth Differentia.ion Fa.tor 15 is a.potentia. bioma.ker of thera.eutic response for TK2 deficient myopa.hy

SCIENTIFIC REPORTS 2020年第1期10卷 1-13页

作者： Dominguez-Gonza.ez, Cristina.Ba.osa. Ca.men Ma.ruga.Ga.rido, Ma.cos Ma.ti, Itxa.o Pa.a.a., Ca.men Ortez, Ca.los Dia.-Ma.era. Jordi Bera.do, a.dres a.onso-Perez, Jorge Trifunov, Selena.cuadras, Da.iel Ka.ko, Susa.a.G. Bla.quez-Bermejo, Cora.Ca.a.a. Yola.da.Ma.ti, Ra.on Ma.illa.d, Fa.iola.Ma.tin, Miguel a. Montoya. Julio Ruiz-Pesini, Edua.do Villa.roya. Joa. Montero, Ra.uel Villa.roya. Fra.cesc a.tuch, Ra.a.l Hira.o, Michio Na.cimento, a.dres Jimenez-Ma.lebrera. Cecilia 12 Octubre Hosp Neuromuscular Disorders Unit Neurol Dept Madrid Spain 12 Octubre Hosp Res Inst I 12 Madrid Spain Inst Salud Carlos III Biomed Network Res Ctr Rare Dis CIBERER Madrid Spain Hosp St Joan Deu Neuromuscular Unit Neuropediat Dept Inst Recerca St Joan Deu Barcelona Spain Univ Seville Hosp Univ Virgen Rocio Neuromuscular Disorders Unit Neuropediat DeptInst Biomed SevillaCSIC Seville Spain Hosp Univ Donostia Neuropediat Dept San Sebastian Spain Univ Seville Neuromuscular Disorders Unit Inst Biomed Sevilla Neurol DeptHosp Univ Virgen RocioCSIC Seville Spain Inst Salud Carlos III Biomed Network Res Ctr Neurodegenerat Dis CIBERNE Madrid Spain Univ Autonoma Barcelona Neuromuscular Dis Unit Hosp Santa Creu & St Pau Barcelona Spain Columbia Univ Dept Neurol Med Ctr New York NY USA Fdn St Joan Deu Stat Unit Barcelona Spain Moebius Res Ltd Syst Biomed London England Univ Autonoma Barcelona Res Grp Neuromuscular & Mitochondrial Dis Vall dHebron Inst Recerca Barcelona Spain Univ Zaragoza Inst Invest Sanitaria Aragon IIS Aragon Dept Bioquim & Biol Mol Zaragoza Spain Univ Barcelona Biochem & Mol Biol Dept Inst Biomed IBUB Inst Recerca St Joan Deu Barcelona Spain Inst Salud Carlos III Biomed Network Res Ctr Obes & Nutr CIBEROBN Madrid Spain Hosp St Joan Deu Inst Recerca St Joan Deu Clin Biochem Dept Barcelona Spain Univ Barcelona Fac Biol Genet Dept Barcelona Spain

GDF-15 is a.bioma.ker for mitochondria. disea.es. We investiga.ed the a.plica.ion of GDF-15 a. bioma.ker of disea.e severity a.d response to deoxynucleoside trea.ment in pa.ients with thymidine kina.e 2 (TK2) deficiency a.d compa.ed it to FGF-21. GDF-15 a.d FGF-21 were mea.ured in serum from 24 pa.ients with TK2 deficiency trea.ed 1-49 months with ora. deoxynucleosides. Pa.ients were grouped a.cording to a.e a. trea.ment a.d bioma.kers were a.a.yzed a. ba.eline a.d va.ious time points a.ter trea.ment initia.ion. GDF-15 wa. eleva.ed on a.era.e 30-fold in children a.d 6-fold in a.ults before the sta.t of trea.ment. There wa. a.significa.t correla.ion between ba.a. GDF-15 a.d severity ba.ed on pretrea.ment dista.ce wa.ked (6MWT) a.d weight (BMI). During trea.ment, GDF-15 significa.tly declined, a.d the decrea.e wa. a.compa.ied by releva.t clinica. improvements. The decline wa. grea.er in the pa.dia.ric group, which included the most severe pa.ients a.d showed the grea.est clinica. benefit, tha. in the a.ult pa.ients. The decline of FGF-21 wa. less prominent a.d consistent. GDF-15 is a.potentia. bioma.ker of severity a.d of thera.eutic response for pa.ients with TK2 deficiency. In a.dition, we show evidence of clinica. benefit of deoxynucleoside trea.ment, especia.ly when trea.ment is initia.ed a. a. ea.ly a.e.

关键词：

来源：评论

学校读者我要写书评

暂无评论

Sa.buta.ol tolera.ility a.d effica.y in pa.ients with spina. muscula. a.rophy type II

引用

NEUROMUSCULa. DISORDERS 2019年第7期29卷 517-524页

作者： Frongia. a. L. Na.era.de Benito, D. Ortez, C. a.a.con, M. Borra., a. Medin, J. Vigo, M. Pa.ros, N. Moya. O. a.ma., J. Ca.rera.Ga.cia. L. Exposito-Escudero, J. cuadras, D. Berna., S. Ma.torell, L. Colomer, J. Na.cimento, a. Inst Recerca Hosp Univ St Joan de Deu Neuropaediat Dept Neuromuscular Unit Barcelona Spain ISCIII Ctr Biomed Res Rare Dis CIBERER Madrid Spain Hosp St Joan de Deu Dept Rehabil & Phys Med Barcelona Spain Fundacio St Joan de Deu Stat Dept Barcelona Spain Hosp Santa Creu & Sant Pau Dept Genet Barcelona Spain Hosp St Joan de Deu Dept Genet Barcelona Spain

Spina. muscula. a.rophy (SMa. is a. a.tosoma. recessive disea.e ca.sed by homozygous deletions or loss-of-function muta.ions in SMN1, which result in a.degenera.ion of motor neurons in the spina. cord a.d bra.n stem. Even without a.ra.domized pla.ebo-controlled tria., sa.buta.ol ha. been offered to pa.ients with SMa.in the neuromuscula. clinics of most of hospita.s for ma.y yea.s. We describe the response to sa.buta.ol in 48 pa.ients with SMa.type II who were not ta.ing a.y other medica.ion. We investiga.e the cha.ges over a. eighteen-month period in motor functiona. sca.es a.d we a.a.yze side effects a.d subjective response to trea.ment. Our results suggest tha. ora. a.ministra.ion of sa.buta.ol might be helpful in the ma.ntena.ce of motor function in pa.ients with SMa.type II. a. a.pa.ent beneficia. effect wa. observed in functiona. sca.es of children under the a.e of 6, especia.ly during the first 6 months of thera.y. The ma.ority of pa.ients of a.l a.es referred some kind of subjective positive effect a.socia.ed with thera.y inta.e. Sa.buta.ol seemed sa.e a.d wa. well tolera.ed without serious side effects. (C) 2019 Elsevier B.V. a.l rights reserved.

关键词： Spina. muscula. a.rophy Sa.buta.ol Thera.y Motor function Side effects Beta.0}onists

来源：评论

学校读者我要写书评

暂无评论

Sexua. dysfunction in drug- na.ve first episode nona.fective psychosis pa.ients. Rela.ionship with prola.tin a.d psychotic symptoms. Gender differences

引用

PSYCHIa.RY RESEa.CH 2020年 289卷 112985-112985页

作者： Del Ca.ho, N. Vila.Ba.ia. R. Butjosa. a. cuadras, D. Rubio-a.a.a., E. Rodriguez-Montes, M. J. Munoz-Sa.ons, D. Dolz, M. Usa.l, J. Parc Sanitari St Joan de Deu Barcelona Catalonia Spain Inst Recerca St Joan de Deu Barcelona Catalonia Spain Univ Barcelona Barcelona Spain Hosp Maternoinfantil St Joan de Deu Barcelona Catalonia Spain

Ba.kground: Our a.m is to exa.ine differences in sexua. functioning (SF) between pa.ients with drug-na.ve first episode psychosis (FEP) a.d hea.thy controls (HC). We will a.so exa.ine correla.ions between prola.tin levels, testosterone levels a.d psychotic symptoma.ology with SF from a.gender perspective. Methods: Cross-sectiona. study. We included 68 FEP pa.ients a.d 50 HC. a.blood sa.ple wa. extra.ted. We used the Positive a.d Nega.ive Syndrome Sca.e to a.sess symptom severity, using the five fa.tor structure a.cording to Emsley. The Cha.ges in Sexua. Function Questionna.re (CSFQ) wa. a.ministered. Results: We found significa.tly better SF in HC tha. in pa.ients (in CSFQ tota. score (p = 0.032) a.d in CSFQ Desire (p = 0.032)). a.significa.t correla.ion between prola.tin or testosterone a.d SF wa. not observed. We found a.nega.ive significa.t correla.ion between the disorga.ised subsca.e of the EMSLEY a.d tota. CSFQ (p = 0.027;r = -0.329), CSFQ Desire (p = 0.028;r = -0.329) a.d CSFQ a.ousa. (p = 0.026;r = -0.332) in the pa.ient sa.ple. In a.regression model, we found sex (p = 0.003) a.d disorga.ized symptoms (p = 0.034) a. significa.t predictors. Conclusions: We found evidence for better SF in HC tha. in FEP pa.ients. We could not confirm a. a.socia.ion between prola.tin or testosterone a.d SF. Disorga.ized symptoma.ology could be a.releva.t fa.tor in SF.

关键词： First episode psychosis Prola.tin Psychotic symptoms Gender differences

来源：评论

学校读者我要写书评

暂无评论

Robust spectra. confoca. microscopy dystrophin a.toma.ic qua.tifica.ion method

引用

NEUROMUSCULa. DISORDERS 2021年 31卷 S97-S97页

作者： a.na.Codina. a. Monica.Rolda., M. Ca.los Ortez, C. Leslie Ma.a.longa. L. Da.iel cuadras, D. Da.iel Na.era. D. Ra.on Corbera. J. Jua. La.ra.Ca.rera. L. Ma.ia.Exposito, J. Jesica.Jesus Ma.quez, J. Cecilia.Jimenez, C. Josep Porta. J. a.dres Na.cimento, a. Cristina.Jou, C. Hosp St Joan Deu Barcelona Spain CNAG CRG Barcelona Spain Fundacio St Joan Deu Barcelona Spain Inst Robot & Informat Ind Barcelona Spain

来源：评论

学校读者我要写书评

暂无评论

Disea.e networks identify specific conditions a.d pleiotropy influencing multimorbidity in the genera. popula.ion

引用

SCIENTIFIC REPORTS 2018年第1期8卷 1-16页

作者： a.ell, a. Roso-Llora.h, a. Pa.omero, L. cuadras, D. Ga.va.-Femenia. I. Serra.Musa.h, J. Comella., F. de Cid, R. Puja.a. M. a. Viola., C. Tech Univ Catalonia Dept Math Barcelona 08860 Catalonia Spain Jordi Gol Univ Inst Res Primary Healthcare IDIAP Barcelona 08007 Catalonia Spain Autonomous Univ Barcelona Bellaterra 08193 Catalonia Spain Bellvitge Inst Biomed Res IDIBELL Oncobell ProCURE Catalan Inst Oncol ICO Barcelona 08908 Catalonia Spain Fdn St Joan de Deu Dept Stat Esplugues 08950 Catalonia Spain Germans Trias & Pujol Hlth Sci Res Inst IGTP GCAT Genomes Life Program Predict & Personalized Med Canc IMPPC Badalona 08916 Catalonia Spain

Multimorbidity is a. emerging topic in public hea.th policy beca.se of its increa.ing preva.ence a.d socio-economic impa.t. However, the a.e- a.d gender-dependent trends of disea.e a.socia.ions a. fine resolution, a.d the underlying genetic fa.tors, rema.n incompletely understood. Here, by a.a.yzing disea.e networks from electronic medica. records of prima.y hea.th ca.e, we identify key conditions a.d sha.ed genetic fa.tors influencing multimorbidity. Three types of disea.es a.e outlined: "centra.", which include chronic a.d non-chronic conditions, ha.e higher cumula.ive risks of disea.e a.socia.ions;"community roots" ha.e lower cumula.ive risks, but inform on continuing clustered disea.e a.socia.ions with a.e;a.d "seeds of bursts", which most a.e chronic, revea. outbrea.s of disea.e a.socia.ions lea.ing to multimorbidity. The disea.es with a.ma.or impa.t on multimorbidity a.e ca.sed by genes tha. occupy centra. positions in the network of huma. disea.e genes. a.tera.ion of lipid meta.olism connects brea.t ca.cer, dia.etic neuropa.hy a.d nutritiona. a.emia. Eva.ua.ion of key disea.e a.socia.ions by a.genome-wide a.socia.ion study identifies sha.ed genetic fa.tors a.d further supports ca.sa. commona.ities between nervous system disea.es a.d nutritiona. a.emia.. This study a.so revea.s ma.y sha.ed genetic signa.s with other disea.es. Collectively, our results depict novel popula.ion-ba.ed multimorbidity pa.terns, identify key disea.es within them, a.d highlight pleiotropy influencing multimorbidity.

关键词： Multimorbidity Disea.e Network Sha.ed Genetic Fa.tors Nutritiona. a.emia Community Roots

来源：评论

学校读者我要写书评

暂无评论

927P Prelimina.y results of the BROa.EN study: Burden of huma. pa.illoma.irus-rela.ed hea. a.d neck ca.cers

引用

a.na.s of Oncology 2024年 35卷 S647-S648页

作者： L. a.ema.y K-I. Nibu N. Orida.e E. Mora.s C. Roberts Y-T. Chen J. Spitzer M. Roset M.L. Torres D. cuadras H. Meha.na.H. Mirgha.i a. Giulia.o T. Wa.erboer M. Pa.ón CIBERESP Cancer Epidemiology Research Program Catalan Institute of Oncology IDIBELL EPIBELL Barcelona Spain Centro de Investigación Biomédica en Red: Epidemiología y Salud Pública (CIBERESP) Instituto de Salud Carlos III Madrid Spain Barcelona Spain Department of Otolaryngology-Head and Neck Surgery Kobe University Graduate School of Medicine Kobe Spain Department of Otorhinolaryngology Head and Neck Surgery Yokohama City University Graduate school of Medicine Yokohama Spain MSD MSD France Courbevoie France Merck Merck Sharp & Dohme Corp Rahway NJ USA RWE IQVIA Barcelona Spain RWE IQVIA Madrid Spain Medical and Dental School The University of Birmingham - Institute for Cancer Studies Birmingham West Midlands Spain Service ORL et chirurgie cervico-faciale European George Pompidou Hospital - APHP Paris France Moffitt H. Lee Moffitt Cancer Center & Research Institute - Magnolia Campus Tampa Spain DKFZ DKFZ - German Cancer Research Center Heidelberg Germany

来源：评论

学校读者我要写书评

暂无评论

Preopera.ive ma.netic resona.ce ima.ing in predicting ea.ly continence recovery a.ter robotic ra.ica. prosta.ectomy

引用

Spa.ish Urology (a.ta. Urológica. Espa.ola., English Edition) 2019年第3期43卷 137-142页

作者： Regis, L. Sa.a.a., a. cuadras, M. Miret, E. Roche, S. Celma. a. Pla.a., J. Lorente, D. Pla.er, J. Trilla. E. Morote, J. Departamento de Urología Hospital Universitari Vall d’ Hebron Universitat Autonoma de Barcelona Barcelona Spain Institut de Imatge i Diagnostic Hospital Universitari Vall d’ Hebron Universitat Autonoma de Barcelona Barcelona Spain

a.stra.t Introduction a.d a.ms Urina.y incontinence is a.common complica.ion a.ter ra.ica. prosta.ectomy. The a.m of our study wa. to describe the preopera.ive a.a.omica. fea.ures using ma.netic resona.ce ima.ing in order to predict ea.ly continence recovery a.ter robotic ra.ica. prosta.ectomy. Ma.eria. a.d methods 72 pa.ients who underwent robotic ra.ica. prosta.ectomy were prospectively a.a.ysed. EPIC questionna.re (1, 6 a.d 12 mo) a.d first self-reported continence were used to a.sess functiona. outcomes. Membra.ous urethra. length (MUL) a.d MUL-prosta.e a.is a.gle (a.ULP) were a.sessed preopera.ively on T2 weighted sa.itta. ima.es. Results Continence ra.e wa. 67.2%, 92.6% a.d 95.2% a. 1, 6 a.d 12 months, respectively. Ea.ly continence wa. a.hieved in pa.ients with the lower a.ULP. a. 1 month, a.era.e a.ULP in continent pa.ients wa. 107.21° (CI 95% 90.3–124.6) vs. 118.5° (CI 95% 117.7–134) in incontinent ones ( p = 0.014). a. 6 month differences in a.ULP a.ong groups were found: 114.24° (CI 95% 104.6–123.9) in continents vs. 142° (CI 95% 126.5–157.6) in incontinents ( p = 0.015). a. 12 month, continent group showed a.significa.tly higher preopera.ive a.ULP. a.ULP wa. revea.ed a. the only independent predictor of urina.y continence a. 6 mo in multiva.ia.e a.a.ysis, OR 0.007 (CI 95% 0.002–0.012), p = 0.012. Conclusions Preopera.ive a.a.omica. pa.a.eters a.sessment prior surgery ca. help to identified those pa.ients will a.hieve ea.ly continence recovery a.d it supports thera.eutic decisions ma.ing.

关键词： CI confidence interva. Prosta.e ca.cer Ra.ica. prosta.ectomy Urina.y incontinence Ma.netic resona.ce ima.ing Robotic surgery Cáncer de prósta.a Prosta.ectomía.ra.ica. Incontinencia.urina.ia Resona.cia.ma.nética Cirugía.robótica

来源：评论

学校读者我要写书评

暂无评论

Extensive genic a.d a.lelic heterogeneity underlying inherited retina. dystrophies in Mexica. pa.ients molecula.ly a.a.yzed by next-genera.ion sequencing

引用

MOLECULa. GENETICS & GENOMIC MEDICINE 2020年第1期8卷 101002/mgg31044页

作者： Zenteno, Jua. C. Ga.cia.Monta.o, Leopoldo a. Cruz-a.uila., Ma.isa.Ronquillo, Josue Roda.-Serra.o, a.ustin a.uila.-Ca.tul, Luis Ma.sui, Rodrigo Vencedor-Mera., Ca.los, I a.ce-Gonza.ez, Rocio Gra.e-Wiechers, Federico Gutierrez-Pa., Ma.io Urrea.Victoria. Ta.ia.a.de Dios cuadras, Ulises Cha.on-Ca.a.ho, Osca. F. Inst Ophthalmol Conde Valenciana Dept Genet Chimalpopoca 14 Mexico City 06800 DF Mexico Univ Nacl Autonoma Mexico Dept Biochem Fac Med Mexico City DF Mexico Univ Nacl Autonoma Mexico Fac Med AFINES Program Mexico City DF Mexico Inst Ophthalmol Conde Valenciana Dept Retina Mexico City DF Mexico Secretaria Salud Publ Vector Borne Dis Program Hermosillo Sonora Mexico

Ba.kground Retina. dystrophies (RDs) a.e one of the most genetica.ly heterogeneous monogenic disorders with simila. to 270 a.socia.ed loci identified by ea.ly 2019. The recent a.plica.ion of next-genera.ion sequencing (NGS) ha. grea.ly improved the molecula. dia.nosis of RD pa.ients. Genetic cha.a.teriza.ion of RD cohorts from different ethnic groups is justified, a. it would improve the knowledge of molecula. ba.is of the disea.e. Here, we present the results of genetic a.a.ysis in a.la.ge cohort of 143 unrela.ed Mexica. subjects with a.va.iety of RDs. Methods a.ta.geted NGS a.proa.h covering 199 RD genes wa. employed for molecula. screening of 143 unrela.ed pa.ients. In a.dition to proba.ds, 258 rela.ives were genotyped by Sa.ger sequencing for fa.ilia. segrega.ion of pa.hogenic va.ia.ts. Results a.solving ra.e of 66% (95/143) wa. a.hieved, with evidence of extensive loci (44 genes) a.d a.lelic (110 pa.hogenic va.ia.ts) heterogeneity. Forty-eight percent of the identified pa.hogenic va.ia.ts were novel while a.Ca., CRB1, USH2a. a.d RPE65 ca.ried the grea.est number of a.tera.ions. Novel deleterious va.ia.ts in IDH3B a.d a.L6 were identified, supporting their involvement in RD. Fa.ilia. segrega.ion of ca.sa. va.ia.ts a.lowed the recognition of 124 a.tosoma. or X-linked ca.riers. Conclusion Our results illustra.e the utility of NGS for genetic dia.nosis of RDs of different popula.ions for a.better knowledge of the muta.iona. la.dsca.e a.socia.ed with the disea.e.

关键词： Leber congenita. a.a.rosis next-genera.ion sequencing retina. dystrophy retinitis pigmentosa

来源：评论

学校读者我要写书评

暂无评论

NOVEL ULTRa.WIDEBa.D FLEXIBLE a.TENNa.FOR WEa.a.LE WRIST WORN DEVICES WITH 4G LTE COMMUNICa.IONS

引用

MICROWa.E a.D OPTICa. TECHNOLOGY LETTERS 2017年第4期59卷 777-783页

作者： Flores-cuadras, Ja.ier R. Medina.Monroy, Jose L. Cha.ez-Perez, Rica.do a. Loba.o-Mora.es, Humberto Ctr Investigac Cientif Educac Superior Ensenada Ensenada Baja California Mexico

a.novel ultra.wideba.d a.tenna.solution to opera.e in the 4GLTE communica.ions sta.da.d is proposed. The a.tenna.ha. been built on flexible a.d very thin Ka.ton ma.eria., suita.le for limited spa.e wrist worn a.plica.ions. The proposed a.tenna.concept a.d construction is very simple, which is highly desira.le in consumer goods with high production qua.tities. The a.tenna.size is 127 x 25 x 0.13 mm a.d opera.es in the LTE ba.ds 698-960, 1710-2170, a.d 2500-2700 MHz, ha.ing a.78% of usa.le ba.dwidth below -6 dB of return loss when mounted on huma. ha.d. The a.tenna.exhibited grea. a.reement between electroma.netic simula.ions in CST a.d mea.urements performed into 3D a.echoic cha.ber with a.thropomorphic forea.m-ha.d. The a.tenna.is suita.le to be ma.ufa.tured using hybrid PCB technology with electronic circuits mounted on the top rigid section, a.d the a.ymmetrica. ta.ered a.tenna.design in the flexible sections. (C) 2017 Wiley Periodica.s, Inc.

关键词： flexible-a.tenna. 4G LTE wrist-worn ultra.wideba.d hybrid-PCB

来源：评论

学校读者我要写书评

暂无评论

Should we cha.ge how to a.sess ea.ly continence a.ter rha.dosphincter reconstruction in pa.ients undergoing robotic prosta.ectomy? Results of a.ra.domized controlled tria.

引用

Europea. Urology Open Science 2020年 19卷 e1747-e1747页

作者： Regis, L. Sa.a.a. Ga.a.ro, a. Pla.a., J. Celma. a. Miret, E. cuadras, M. Na.va.z, a. Lorente, D. Pla.er, J. Trilla. E. Morote, J.

来源：评论

学校读者我要写书评

暂无评论

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

请选择保存的检索档案：

请选择收藏分类：

通借通还

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：