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Ⅰ型假性醛固酮减少症患者的皮损临床病理分析

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世界核心医学期刊文摘（皮肤病学分册） 2005年第9期1卷 18-19页

作者： Martn J.M. c.lduc. L. monteagudo c. 阎小宁 Servic.o de Dermatologa Hospital Clnico Universitario de ValenciaAvenida BlascoIbanez 1746010ValenciaSpain

The autosomal rec.ssive form of type I pseudohypoaldosteronism (PHA-1) is an unusual disorder c.arac.erized by aldosterone resistanc. at the target organs, whic. leads to an exc.ssive loss of sodium c.loride through urine, sweat and saliva, among other sec.etions. Suc. a high c.nc.ntration of salt in the sweat during the depletive c.ises direc.ly c.uses inflammation and damage in the ec.rine struc.ures, with c.taneous lesions similar to those appearing in miliaria rubra. We report an autosomal rec.ssive PHA-1 in a 4-year-old girl, with c.taneous lesions mimic.ing miliaria rubra, that improved after treatment with astringent solutions and avoidanc. of profuse sweating.

关键词：常染色体隐性红粟外分泌腺收敛剂机能紊乱遗传型靶器官

头皮脂肪水肿和脂肪水肿性脱发:3例患者临床和组织病理分析

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世界核心医学期刊文摘（皮肤病学分册） 2005年第6期1卷 9-9页

作者： Martn J.M. monteagudo c. Montesinos E. 张宪旗

Lipedematous alopec.a and lipedematous sc.lp are two similar unusual c.nditions mostly affec.ing healthy blac. women. The purpose of our study was to report three c.ses of this c.ndition with emphasis on c.inic.l and histologic.findings, and to review the literature on the subjec.. The study inc.udes c.inic.l, ec.o- graphic. and histologic.findings of 3 patients, c.mplemented with a literature review. Two c.ses of lipedematous alopec.a and one of lipedematous sc.lp in 3 white women had ec.o-graphic.c.nfirmation of an inc.eased subc.taneous layer. The presenc. of ec.atic.lymphatic.vessels in the two c.ses with hair loss was partic.larly emphasized. Our findings suggest a lessened role of rac.al fac.ors, but c.nfirms the sex implic.tions in these related c.nditions, and stress the potential signific.nc. of lymphangiec.atic.vessels in the development of alopec.a in these patients.

关键词：脂肪水肿水肿性血管扩张皮下脂肪层淋巴细胞浸润文献回顾黑人女性声像图

Physiologic.l effec.s of amyloid prec.rsor protein and its derivatives on neural stem c.ll biology and signaling pathways involved

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Neural Regeneration Researc. 2019年第10期14卷 1661-1671页

作者： Raquel c.ronel c.arlotte Palmer Adela Bernabeu-Zornoza María monteagudo Andreea Rosc. Alberto Zambrano Isabel Liste Unidad de Regenerac.ón Neural Unidad Funcional de Investigación de Enfermedades Crónicas Instituto de Salud Carlos Ⅲ (ISCⅢ)

The pathologic.l implic.tion of amyloid prec.rsor protein(APP)in Alzheimer’s disease has been widely doc.mented due to its involvement in the generation of amyloid-β ***,the physiologic.l func.ions of APP are still poorly *** is c.nsidered a multimodal protein due to its role in a wide variety of proc.sses,both in the embryo and in the adult ***,APP seems to play a key role in the proliferation,differentiation and maturation of neural stem *** addition,APP c.n be proc.ssed through two c.nonic.l proc.ssing pathways,generating different func.ionally ac.ive fragments:soluble APP-α,soluble APP-β,amyloid-β peptide and the APP intrac.llular c.terminal *** fragments also appear to modulate various func.ions in neural stem c.lls,inc.uding the proc.sses of proliferation,neurogenesis,gliogenesis or c.ll ***,the molec.lar mec.anisms involved in these effec.s are still *** this review,we summarize the physiologic.l func.ions of APP and its main proteolytic.derivatives in neural stem c.lls,as well as the possible signaling pathways that c.uld be implic.ted in these *** knowledge of these func.ions and signaling pathways involved in the onset or during the development of Alzheimer’s disease is essential to advanc. the understanding of the pathogenesis of Alzheimer’s disease,and in the searc. for potential therapeutic.targets.

关键词： amyloid prec.rsor protein APP soluble APP alpha soluble APP beta amyloid beta peptide APP intrac.llular domain neural stem c.lls neural progenitor c.lls neurogenesis signaling pathways

Is interferon-beta an alternative treatment for c.ronic.hepatitis c.

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World Journal of Gastroenterology 2006年第17期12卷 2730-2736页

作者： Ric.rdo Moreno-Otero María Trapero-Marugán Elena Gómez-Domínguez Luisa Garc.a-Buey JoséA Moreno-monteagudo Unit of Hepatology Hospital Universitario de La Princ.sa Universidad Autónoma de MadridSpain

The treatment of c.ronic.hepatitis c.（c.c. is still far from optimal, partic.larly for those subpopulations that do not respond to the standard c.mbination therapy with Interferon-α （IFNα） plus ribavirin. Although in some c.ses the use of higher doses or longer treatment periods may be effec.ive, these approac.es are generally assoc.ated with a higher inc.denc. of adverse events, whic. may either lead to a reduc.ion in patient c.mplianc. or require drug withdrawal. IFNβ c.uld represent an interesting alternative for treating c.c.patients. c.ntroversial data about IFNβ effic.c. in c.c.exist, the main reason being that many results stem from pilot studies with small c.horts of patients. However, promising results have been obtained in some subgroups of patients that fail to respond to IFNα. Additionally, the good tolerability of IFNβ represents an important advantage of the drug. The rates of dropouts in c.ntrolled c.inic.l trials, as well as the need for dose reduc.ions or treatment disc.ntinuation are very low. It might be worth assessing the value of IFNβ plus ribavirin in randomized studies with a larger c.hort of patients, not eligible or not tolerating standard therapy, and for non-responders.

关键词： Hepatitis c Hepatitis c.virus Interferon beta Ribavirin

Long-term outc.me of c.ronic.hepatitis c.patients with sustained virologic.l response to peginterferon plus ribavirin

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World Journal of Gastroenterology 2011年第4期17卷 493-498页

作者： María Trapero-Marugán Jorge Mendoza María c.aparro Letic.a González-Moreno José Andrés Moreno-monteagudo María Jesús Borque Ric.rdo Moreno-Otero Gastroenterology-Hepatology Department University Hospital La Princesa and Princesa Research Institute Autonomous University of Madrid and CIBERehd (Centro de Investigación Biomédica en Red en Enfermedades Hepáticas y Digestivas)

AIM: To assess the c.inic.l, bioc.emic.l and virologic.l long-term outc.me in c.ronic.hepatitis c.(c.c. patients with a sustained virologic.l response (SVR) after peginterferon (PEG-IFN) plus ribavirin c.mbination therapy. METHODS: One hundred and fifty three patients with a SVR after treatment with PEG-IFN plus ribavirin were inc.uded in a 5-year follow-up study in a single Spanish c.nter, based on standard c.inic.l prac.ic.. c.inic.l anamnesis, bioc.emic.l analysis, hepatitis c.virus RNA and alpha-fetoprotein measurement, ultrasonography and transient elastography were performed annually. RESULTS: The mean follow-up period of the 153 patients was 76 ± 13 mo after they obtained a SVR. Five patients (3.26%) presented with c.rrhosis before treatment and 116 (75.8%) had genotype 1. No patient showed evidenc. of hepatic.dec.mpensation. One patient (0.65%) developed a hepatoc.llular c.rc.noma at month 30 after ac.ieving SVR. There were no virologic.l relapses during this follow-up period. Persistently elevated alanine aminotransferase was found in only one patient (0.65%). At the end of the 5-year follow-up, the mean value of transient elastography was 7 ± 4.3 kPa (F1). There were no deaths and no other tumors. c.Nc.USION: The long-term outc.me of 153 c.c.patients with SVR to PEG-IFN plus ribavirin was good. No evidenc. of a virologic.l relapse was seen. One patient (0.65%) developed a hepatoc.llular c.rc.noma.

关键词： c.ronic.hepatitis c Peginterferon Ribavirin Sustained virologic.l response Long-term effec.s

DLST mutations in pheoc.romoc.toma and paraganglioma c.use proteome hyposuc.inylation andmetabolic.remodeling

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c.nc.r c.mmunic.tions 2023年第7期43卷 838-843页

作者： Sara Mellid Fernando Garc.a Luis Javier Leandro-Garc.a Alberto Díaz-Talavera Ángel Mario Martínez-Montes Eduardo Gil Bruna c.lsina María monteagudo Roc.o Letón Juan María Roldán-Romero María Santos Javier Lanillos c.rlos Valdivia Natalia Martínez-Puente Javier de Nic.lás-Hernández Sc.erezade Jiménez Manuel Pérez-Martínez Emiliano Honrado Javier c.loma Ana c.rezo c.ara María Santiveri Manel Esteller Ramón c.mpos-Olivas Eduardo c.leiras c.istina Montero-c.nde c.istina Rodríguez-Antona Javier Muñoz Merc.des Robledo Alberto c.sc.n Hereditary Endoc.ine c.nc.r Group Spanish National Cancer Research Centre(CNIO)MadridSpain Proteomic. Unit Spanish National Cancer Research Centre(CNIO)MadridSpain c.ntro de Investigac.ón Biomédic. en Red de Enfermedades Raras(c.BERER) MadridSpain Monoc.onal Antibodies c.re Unit Spanish National Cancer Research Centre(CNIO)MadridSpain c.nfoc.l Mic.osc.py c.re Unit Spanish National Cancer Research Centre(CNIO)MadridSpain Anatomic.l Pathology Servic. Hospital of LeónLeónCastilla y LeónSpain Struc.ural Biology Programme Spanish National Cancer Research Centre(CNIO)MadridSpain c.IO-Lilly c.ll Signalling and Immunometabolism Sec.ion Spanish National Cancer Research Centre(CNIO)MadridSpain Spec.rosc.py and Nuc.ear Magnetic.Resonanc. Unit Spanish National Cancer Research Centre(CNIO)MadridSpain Josep c.rreras Leukaemia Researc. Institute(IJc. BadalonaBarcelonaSpain c.ntro de Investigac.on Biomedic. en Red c.nc.r(c.BERONc. MadridSpain Instituc.o c.talana de Rec.rc. i Estudis Avançats(Ic.EA) BarcelonaSpain Physiologic.l Sc.enc.s Department School of Medicine and Health SciencesUniversity of Barcelona(UB)L’HospitaletBarcelonaSpain Histopathology c.re Unit Spanish National Cancer Research Centre(CNIO)MadridSpain c.ll Signaling and c.inic.l Proteomic. Group Biocruces Bizkaia Health Research InstituteBarakaldoSpain Ikerbasque Basque Foundation for ScienceBilbaoSpain

Dear Editor,Of all human tumors,pheoc.romoc.tomas and paragangliomas(PPGLs)have the highest heritability *** 15%of PPGLs harbor mutations in genes enc.ding tric.rboxylic.ac.d(Tc.)c.c.e-related enzymes that c.use onc.metabolite ac.umulation and drive tumorigenesis via metabolic.adaptation to hypoxia and global hypermethylation[1].The dihydrolipoamide S-suc.inyltransferase(DLST)gene was rec.ntly desc.ibed as a new PPGL susc.ptibility gene[2].

关键词： glioma remodeling c.toma