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1例智利男孩发生严重的光过敏和手指缩短:南美洲首例纯合子杂色斑驳卟啉症

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世界核心医学期刊文摘（皮肤病学分册） 2006年第6期2卷 34-35页

作者： poblete-gutiérrez p. Wolff C. Farias R. Frank J. 罗素菊 Dep.rtment of Dermatology University Hospital Maastricht PO Box 5800 6202 AZ Maastricht Netherlands

A 7-year-old Chilean boy p.esented with severe p.otosensitivity, blistering, erosions and scarring on sun-exp.sed areas of the body since the age of 6 months. Additionally, he showed a short stature and shortening of the fingers. Laboratory examination revealed greatly elevated p.otop.rp.yrin levels in the blood. Such biochemical findings can be observed in homozygous variants of usually autosomal dominantly inherited acute p.rp.yrias such as variegate p.rp.yria (Vp. and hereditary cop.op.rp.yria, which usually do not become manifest before the second or third decade of life in heterozygotes. Using p.lymerase chain reaction-based techniques we identified a missense mutation in exon 7 on the p.ternal allele and a frameshift mutation in exon 13 on the maternal allele of the p.otop.rp.yrinogen oxidase gene that harbours the mutations underlying Vp. This is the first homozygous case of Vp.in South America. As Vp.rep.esents the most frequent typ. of acute p.rp.yria not only in Chile but also in South Africa, more such cases could be exp.cted in the future, p.rticularly because a founder mutation for this disease has already been described in the Chilean and South African p.p.lation.

关键词：急性卟啉症纯合子南美洲光过敏智利常染色体显性遗传性色斑首例缩短手指

Metal-modulated ep.taxy of Mg-dop.d Al_(0.80)In_(0.20)N-based layer for ap.lication as the electron blocking layer in deep.ultraviolet light-emitting diodes

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Journal of Semiconductors 2024年第5期45卷 80-89页

作者： Horacio Irán Solís-Cisneros Carlos Alberto Hernández-gutiérrez Enrique Camp.s-González Máximo Lóp.z-Lóp.z Op.omechatronics Group Tecnológico Nacional de México Campus Tuxtla Gutiérrezcarretera Panamericana 1080C.P.29050Tuxtla GutiérrezChiapasMéxico Dep.rtamento de Física Instituto Nacional de Investigaciones NuclearesCarretera México-Toluca s/nC.P.52750La Marquesa OcoyoacacMéxico Dep.rtamento de Física Centro de Investigación y estudios Avanzados del Instituto Politécnico NacionalAv.Instituto Politécnico Nacional 2508San Pedro ZacatencoGustavo A.Madero07360 Ciudad de MéxicoCDMXMéxico

This work rep.rts the growth and characterization of p.AlInN layers dop.d with Mg by p.asma-assisted molecular beam ep.taxy(p.MBE).AlInN was grown with an Al molar fraction of 0.80 by metal-modulated ep.taxy(MME)with a thickness of 180 nm on Si(111)substrates using AlN as buffer *** substrate temp.ratures were used to enhance the incorp.ration of indium atoms into the alloy without clustering,as confirmed by X-ray diffraction(XRD).Cathodoluminescence measurements revealed ultraviolet(UV)range ***,Hall effect measurements indicated a maximum hole mobility of 146 cm^(2)/(V∙s),corresp.nding to a free hole concentration of 1.23×10^(19)cm^(−3).The samp.es were analyzed by X-ray p.otoelectron sp.ctroscop.(Xp.)estimating the alloy comp.sition and extracting the Fermi level by valence band ***-dop.d AlInN layers were studied for use as the electron-blocking layer(EBL)in LED *** varied the Al comp.sition in the EBL from 0.84 to 0.96 molar fraction to assess its theoretical effects on electroluminescence,carrier concentration,and electric field,using SILVACO *** results from this study highlight the imp.rtance and cap.bility of p.oducing high-quality Mg-dop.d p.AlInN layers through *** simulations suggest that an Al content of 0.86 is op.imal for achieving desired outcomes in electroluminescence,carrier concentration,and electric field.

关键词： metal-modulated ep.taxy AlInN DUV-LED EBL simulation

Single atom Cu-N-C catalysts for the electro-reduction of CO_(2) to CO assessed by rotating ring-disc electrode

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Journal of Energy Chemistry 2024年第1期88卷 169-182,I0004页

作者： S.p.rez-Rodríguez M.gutiérrez-Roa C.Giménez-Rubio D.Ríos-Ruiz p.Arévalo-Cid M.V.Martínez-Huerta A.Zitolo M.J.Lázaro D.Sebastián Instituto de Carboquímica(CSIC) Miguel Luesma Castán 450018 ZaragozaSpain Instituto de Catálisis y p.troleoquímica(CSIC) Marie Curie 228049 MadridSpain Synchrotron SOLEIL L’Orme des MerisiersDépartementale 12891190France

The electrochemical CO_(2) reduction reaction(CO_(2)RR) to controllable chemicals is considered as a p.omising p.thway to store intermittent renewable energy. Herein, a set of catalysts based on cop.er-nitrogendop.d carbon xerogel(Cu-N-C) are successfully develop.d varying the cop.er amount and the nature of the cop.er p.ecursor, for the efficient CO_(2)RR. The electrocatalytic p.rformance of Cu-N-C materials is assessed by a rotating ring-disc electrode(RRDE), technique still rarely exp.ored for CO_(2)RR. For comp.rison, p.oducts are also characterized by online gas chromatograp.y in a H-cell. The as-synthesized Cu-NC catalysts are found to be active and highly CO selective at low overp.tentials(from -0.6 to -0.8 V ***) in 0.1 M KHCO_(3), while H_(2) from the comp.titive water reduction ap.ears at larger overp.tentials(-0.9 V vs. RHE). The op.imum cop.er acetate-derived catalyst containing Cu-N_(4) moieties exhibits a CO_(2)-to-CO turnover frequency of 997 h^(-1) at -0.9 V vs. RHE with a H_(2)/CO ratio of 1.8. These results demonstrate that RRDE configuration can be used as a feasible ap.roach for identifying electrolysis p.oducts from CO_(2)RR.

关键词： Cu-N-C Carbon xerogel Rotating ring disc electrode Carbon dioxide reduction reaction Carbon monoxide

Root Sp.outs of Domesticated p.aseolus coccineus L. Overwinter p.ants and the Environment at Its Collection Sites

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Op.n Journal of Ecology 2024年第5期14卷 508-521页

作者： Ma. Luisa p.tricia Vargas-Vázquez Jorge Alberto Acosta-Gallegos Fabián Islas-gutiérrez Enrique Buendía-Rodríguez Camp. Exp.rimental Valle de Mé xico Instituto Nacional de Investigaciones Forestales Agr&#237colas y Pecuarias Texcoco Mexico Camp. Exp.rimental Bají o Instituto Nacional de Investigaciones Forestales Agr&#237colas y Pecuarias Guanajuato M&#233xico

Buds emerge from the roots of domesticated runner bean p.ants (p.aseolus coccineus L.) as sp.outs and give the crop.its p.rsistence. This p.rticularity of the sp.cies seems to be associated with the environment where the sp.cies was cultivated during long time. Data on regrowth traits were recorded on 70 accessions of domesticated p. coccineus after overwintering at a site in the central highlands of Mexico. The characteristics recorded included fresh weight of vegetative regrowth, root length, root crown diameter, and diameter of the main root. Most accessions that sp.out the following sp.ing, after the grain harvest of the p.evious year, come from temp.rate and semi-cold sites with cambisol and andosol soils in mixed Quercus p.ne forest and high mountain fir trees. Those that do not sp.out are from sites of semiarid temp.rate climate, hap.ic p.aeozem soil in shrub grasslands with deciduous broadleaved trees, and semiwarm subhumid climate, eutrop.ic regosol soil in deciduous broadleaved forest. Two typ.s of roots were differentiated: branched and thickened tap.oots, also associated with a different climate, and the typ. of soil of the collection sites.

关键词： p. coccineus Distribution Vegetation-Environment Interactions Drought-Alternative Sp.cies Root-Regrowth

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5周龄女婴出现色素失调症

世界核心医学期刊文摘（皮肤病学分册） 2005年第3期1卷 11-11页

作者： Wiederholt T. poblete-gutié rrez p. Ott H. J. Frank 刘超 Abt. fur Molekulare Dermatologie Klin. F Dermatol. und Allergologie Universitatskliniku m der RWTH Aachen Pauwelsstra.e 30 52074 Aachen GermanyDr.

Shortly after birth, a five-week-old female infant develop.d smal l bliste rs and erythema that followed the lines of Blaschko on the up.er and lower extre mities as well as the abdomen. Histological examination confirmed the clinical p.resump.ive diagnosis of incontinentia p.gmenti. We discuss the clinical features , diagnosis, and the molecular genetic basis of this rare inherited skin disorde r.

关键词：色素失调症遗传性皮肤病小水疱病理检查出生后分子遗传学

Standardizing MI-TLIF, a p.op.sal for a Rep.oducible Technique

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Op.n Journal of Modern Neurosurgery 2024年第2期14卷 91-103页

作者： Iván Ulises Sámano Lóp.z Jesús Alberto p.rez Contreras Emmanuel Cantú Chávez Diana Chávez Lizárraga Ana Sofía p.ña Blesa Thania Karina gutiérrez Anchondo Á ngeles Pedregal Ciudad de México México

Background: Minimally invasive transforaminal lumbar interbody fusion (MI TLIF) is a widely known and p.rformed technique, however its versatility among different p.ysicians continues to hinder its rep.ication and results. Therefore, this study aimed to p.ovide a step.by-step.surgical guide to p.rform a safe MI-TLIF, based on the results obtained in p.tients op.rated on by a single surgeon over a p.riod of 12 years. p.tients and methods: A retrosp.ctive, single center, longitudinal, and observational cohort study was conducted with 931 p.tients who underwent MI TLIF by a single surgeon between 2010 and 2022 using the technique described on this p.p.r, each with a minimum follow-up.of 12 months. Criteria included Schizas classification, listhesis according to Meyerding classification, number of levels treated, cage size, and comp.ications (screw rep.sitioning or cerebrosp.nal fluid leak). p.tient clinical outcomes were assessed using the Oswestry Disability Index (ODI), Visual Analog Scale (VAS) for p.e- and p.stop.rative radicular p.in. Thin slice CT scans were used to assess the p.ogression of the fusion using the Bridwell classification. In the statistical analysis, p.rcentages, median, and interquartile range (IQR) were calculated. Results: Nine hundred and thirty one p.tients underwent MI TLIF using the technique described, eight hundred and eighty (94.5%) had a single level treated and fifty one (5.5%) had a 2 level p.ocedure (982 levels), an 8mm cage was p.aced on five hundred and seventeenlevels (52.7%), six hundred and sixty three levels(67.6%) achieved grade I fusion, two hundred and sixty six levels (27.1%) achieved grade II fusion, 52 levels (5.3) achieved grade III fusion and one level (0.1) achieved a grade IV fusion or non-union. Revision surgery was p.rformed on 3 p.tients (0.3%) for screw rep.sitioning, cerebrosp.nal fluid leak was p.esent on 2 p.tients during surgery and treated before closure. VAS scores and ODI were imp.oved at 12 months p.stop.(V

关键词： MITLIF Lumbar Interbody Fusion Technique p.in Relief and Disability

p.rsonalized nutrition to mitigate inflammation in genetically p.edisp.sed individuals: a secondary analysis of the Danish p.EVENTOMICS intervention

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Food Science and Human Wellness 2024年

作者： Sebastià Galmés Andreu p.lou-March Kristina p.gsborg Mona Adnan Aldubayan Sop.ia M.O.Gormsen Alberto Calleja Joan Trabal Vanesa Martínez Biotza gutiérrez Josep.M.Del Bas Faidon Magkos Francisca Serra Eurecat， Centre tecnològic de Catalunya， Biotechnology Area Avd Universitat 1 Laboratory of Molecular Biology， Nutrition and Biotechnology (Nutrigenomics， Biomarkers and Risk Evaluation-NuBE)， University of the Balearic Islands Health Research Institute of the Balearic Islands (IdISBa) CIBER of p.ysiop.thology of Obesity and Nutrition (CIBEROBN)， Carlos III Health Institute (ISCIII) Alimentómica S.L.， Camí de na p.ntons.s/n (p.l.11，p.rc 3) Dep.rtment of Nutrition， Exercise and Sp.rts， Faculty of Science， University of Cop.nhagen Dep.rtment of Clinical Nutrition， College of Ap.lied Medical Sciences， King Saud bin Abdulaziz University for Health Sciences R&D， Food & Culinary Dep.rtment Simp.e Feast Leitat Technological Center C/Innovació 2 Creaciones Aromáticas Industriales SA， Cuatrecasas i Arumí， Sant Quirze del Valles

Deep.p.enotyp.ng and genetic characterization of individuals are fundamental to assessing the metabolic status and determining nutrition-sp.cific requirements. This study aimed to ascertain the utmost effectiveness of p.rsonalized interventions by aligning dietary adjustments with both the genotyp. and metabolotyp. of individuals. Therefore， we assessed here the usefulness of a p.lygenic score (p.S) characterizing a p.tential p.o-inflammatory p.ofile (p.Si) as a nutrigenetic tool to discern individuals from the Danish p.EVENTOMICS cohort that could better resp.nd to p.ecision nutrition (p.) p.ans， sp.cifically targeted at counteracting the low-grade inflammatory p.ofile typ.cally found in obesity. The cohort followed a p. p.an to counteract the p.o-inflammatory p.ofile (p.i group. or generic dietary recommendations (Control) for 10 weeks. p.Si was ap.lied for genetic stratification (Low/High). The effects of the intervention on anthrop.metrics and biomarkers related to inflammatory p.ofile and carbohydrate metabolism were assessed. Around 30% of subjects had a high genetic p.edisp.sition to p.o-inflammatory status (high-p.Si). These individuals demonstrated the most effective resp.nse to the dietary p.an， exp.riencing imp.oved body comp.sition， with significant decreases in body weight (△: -4.84%; p.0.039) and body fat (△: -4.86%; p.0.007)， and beneficial changes in p.o- and anti-inflammatory biomarkers， with significant increases in IL-10 (△: 71.3%; p.0.025) and decreases in TNF-α (△: -3.0%; p.0.048)， CRp.(△: -31.1%)， ICAM1 (△: -5.8%)， and MCp. (△: -4.2%) circulating levels， comp.red to low-p.Si individuals. Both p.enotyp.c and genetic stratification contributed to a better understanding of metabolic heterogeneity in resp.nse to diet. This ap.roach allows for refinement of the p.ediction of individual requirements and p.tentially for better management of obesity.

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发生于婴儿异位性湿疹患者的传染性软疣:一种治疗学挑战

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世界核心医学期刊文摘（皮肤病学分册） 2005年第3期1卷 10-10页

作者： Erdmann S.M. Rü bben A. Frank J. poblete- gutié rrez p. 牛新武 Klin. fur Dermatol. und Allergologie Unive rsitatsklinikum der RWTH Aachen Pauwelsstra.e 30 52074 Aachen GermanyDr.

Molluscum contagiosum is a viral disease frequently observed in child ren and adolescents with atop.c dermatitis, in whom it p.ses a sp.cial therap.utic chall enge. A 3-year-old girl p.esentedwith atop.c eczema and disseminatedmolluscu mcontagiosum on her buttocks and up.er legs. Top.cal ap.lication of 0.05% tret inoin resulted in a steady regression of the lesions. Other therap.utic op.ions include top.cal antiviral agents, cryosurgery, laser treatment, and curettage. F urther, the therap.utic outcome is highly dep.ndent on an adequate therap. of th e concomitant atop.c eczema.

关键词：异位性湿疹传染性软疣异位性皮炎刮除术泛发性局部应用股部抗病毒药物病毒性疾病

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9岁女性患者的酒渣样皮炎发生治疗耐受

世界核心医学期刊文摘（皮肤病学分册） 2005年第3期1卷 11-11页

作者： poblete-gutié rrez p. Beermann T. Gru.endorf-Conen E.-I. Frank J. 牛新武 Abt. fur Molekulare Dermatologie Klin. F Dermatol. und Allergologie Universitatsklinikum der RWTH Aachen Pauwelsstra.e 30 52074 Aachen GermanyDr.

A9-year-old female develop.d facial p.p.les and p.stules since fo ur years . Clinically, p.rioral dermatitis was susp.cted. Different top.cal therap. regim ens and systemic antibiotics had been unsuccessful and a skin biop.y showed gran ulomatous (lup.id) rosacea. Only systemic antibiotic treatment with minocyclin l ed to healing of the skin lesions. While granulomatous rosacea-like dermatitis is more frequently diagnosed in adults, it is only rarely encountered in childr en where, in most of the cases, it rep.esents a therap.utic challenge.

关键词：美满霉素皮肤活检肉芽肿性面部丘疹