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囊性纤维化的诊断和治疗:NICE指南摘要

英国医学杂志中文版 2022年第7期25卷 406-411页

作者： gemma Villanueva gemma marceniuk M Stephen Murphy Martin Walshaw Rami Cosulich 齐进春(译) 董强(校) National Guideline Alliance Royal College of Obstetricians and GynaecologistsLondon Regional Cystic Fibrosis Clinic Liverpool Heart and Chest HospitalUniversity of LiverpoolUK 河北医科大学第二医院泌尿外科四川大学华西医院泌尿外科

囊性纤维化是一种影响寿命的常染色体隐性遗传疾病,在英国出生的婴儿中,该病的发病率为1/2500。囊性纤维化是一种多系统疾病,它的发病原因为细胞膜表面的囊性纤维化跨膜传导调节蛋白突变,进而影响体内所有产生黏液的器官,包括肺、胰腺... 详细信息

囊性纤维化是一种影响寿命的常染色体隐性遗传疾病,在英国出生的婴儿中,该病的发病率为1/2500。囊性纤维化是一种多系统疾病,它的发病原因为细胞膜表面的囊性纤维化跨膜传导调节蛋白突变,进而影响体内所有产生黏液的器官,包括肺、胰腺、肝和肠。在英国,该病通常通过新生儿筛查即可做出诊断,确诊的平均年龄为2月龄,也有一些患者在更大年龄甚至在成年后才被发现1。

关键词：囊性纤维化新生儿筛查多系统疾病常染色体隐性遗传疾病发病原因

Dietary xylo‑oligosaccharides and arabinoxylans improved growth efficiency by reducing gut epithelial cell turnover in broiler chickens

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Journal of Animal Science and Biotechnology 2024年第3期15卷 1325-1335页

作者： Carla Castro Shahram Niknafs gemma Gonzalez‑Ortiz Xinle Tan Michael R.Bedford Eugeni Roura Centre for Nutrition and Food Sciences Queensland Alliance for Agriculture and Food InnovationThe University of QueenslandSt LuciaQLD 4072Australia AB Vista MarlboroughWiltshire SN84ANUK

Background One of the main roles of the intestinal mucosa is to protect against environmental ***-mentation of xylo-oligosaccharides(XOS)is known to selectively stimulate the growth of beneficial intestinal bacteria and improve gut health and function in *** may have an impact on the integrity of the intestinal epithelia where cell turnover is critical to maintain the compatibility between the digestive and barrier *** aim of the study was to evaluate the effect of XOS and an arabinoxylan-rich fraction(AXRF)supplementation on gut func-tion and epithelial integrity in broiler *** A total of 128 broiler chickens(Ross 308)were assigned into one of two different dietary treatments for a period of 42 d:1)control diet consisting of a corn/soybean meal-based diet;or 2)a control diet supplemented with 0.5%XOS and 1%*** treatment was randomly distributed across 8 pens(n=8)with 8 chickens *** intake and body weight were recorded *** d 42,one male chicken per pen was selected based on aver-age weight and euthanized,jejunum samples were collected for proteomics *** Dietary XOS/AXRF supplementation improved feed efficiency(P<0.05)from d 1 to 42 compared to the con-trol *** analysis was used to understand the mechanism of improved efficiency uncovering 346 dif-ferentially abundant proteins(DAP)(Padj<0.00001)in supplemented chickens compared to the non-supplemented *** the jejunum,the DAP translated into decreased ATP production indicating lower energy expenditure by the tissue(e.g.,inhibition of glycolysis and tricarboxylic acid cycle pathways).In addition,DAP were associated with decreased epithelial cell differentiation,and migration by reducing the actin polymerization ***-ting the two main pathways together,XOS/AXRF supplementation may decrease around 19%the energy required for the maintenance of the gastrointestinal *** Dietary XOS/AXRF supplementation improved gr

关键词： Actin Arabinoxylans Broiler Cell turnover Energy metabolism Jejunum Xylo-oligosaccharides

Using fused filament fabrication to improve the tribocorrosion behaviour of 17-4 PH SS in comparison to other metal forming techniques

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Friction 2024年第10期12卷 2325-2343页

作者： Cristina GARCÍA-CABEZÓN Juan Alfonso NARANJO Celia GARCÍA-HERNÁNDEZ Cristina BERGES gemma HERRANZ Fernando MARTÍN-PEDROSA Materials Engineering E.I.I.Universidad de ValladolidValladolid 47011Spain INEI-Escuela Técnica Superior de Ingeniería Industrial(ETSII) Universidad de Castilla La ManchaCastilla-La Mancha 13071Spain

Fused filament fabrication(FFF)is one of the additive manufacturing processes which has gained more interest because of its simplicity and *** technology is similar to the conventional metal injection moulding(MIM)process,consisting of the feedstock preparation of metal powder and polymer binders,followed by layer-by-layer 3D printing(FFF)or injection(MIM)to create green parts and,finally,debinding and ***,both technologies provide near-dense *** work presents an in-depth study of the processing method’s *** porosity,microstructure,hardness,corrosion,and tribocorrosion behaviour are compared for 17-4 PH SS samples processed from powder by additive manufacturing using FFF and MIM,as well as conventional powder metallurgy(PM)*** samples exhibited the highest macro and microhardness,while corrosion behaviour was similar for both MIM and FFF samples,but superior in comparison to conventional PM ***,the FFF-as fabricated samples displayed a significant improvement in tribocorrosion resistance that could be explained by the higher proportion of delta ferrite and retained austenite in their microstructure.

关键词： 17-4 PH SS fused filament fabrication(FFF) metal injection moulding(MIM) corrosion behaviour powder metallurgy(PM) tribocorrosion behaviour

Lack of evidence for germline WWP1 pathogenic variants in gastrointestinal polyposis and other phenotypes suggestive of PTEN-hamartoma-tumor syndrome

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Genes & Diseases 2024年第2期11卷 524-527页

作者： Noemi Gonzalez-Abuin Tirso Pons Teresa Fuster Isabel Quintana Mariona Terradas gemma Aiza Joan Brunet Gabriel Capellá Heather Hampel Laura Valle Hereditary Cancer Program Catalan Institute of OncologyOncobell ProgramIDIBELLHospitalet de LlobregatBarcelona 08908Spain Department of Immunology and Oncology National Center for BiotechnologySpanish National Research Council (CNB-CSIC)Madrid 28049Spain Centro de Investigación Biomédica en Red de Cáncer (CIBERONC) Madrid 28029Spain Catalan Institute of Oncology IDIBGiGirona 17007Spain Division of Clinical Cancer Genomics Department of Medical Oncology & Therapeutic ResearchCity of Hope National Cancer CenterDuarteCA 91010USA

Germline activating variants in WWP1,which encodes an E3 ubiquitin ligase that antagonizes PTEN tumor suppressive function,have been proposed as an alternative mechanism of PTEN inactivation in PTEN-hamartoma-tumor syndrome(PHTS)-like patients with wildtype PTEN.1 More specifically,heterozygous,potentially activating wwP1 variants were first identified by Lee et al in patients affected with gastrointestinal oligopolyposis,including adenomatous,hyperplastic/serrated,and hamartomatous polyps,and occasionally with colorectal cancer(Table 1).Subsequently,based on the PHTS phenotypic features,wWP1 mutational screening was performed in patients with thyroid nodules,2 or normocephalic autism spectrum disorder(ASD),3 where germline WWP1 variants were also identified(Table S1).

关键词： WWP1 gastrointestinal polyposis

Neuroprotective effects of G9a inhibition through modulation of peroxisome-proliferator activator receptor gamma-dependent pathways by miR-128

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Neural Regeneration Research 2024年第11期19卷 2532-2542页

作者： Aina Bellver-Sanchis Pedro AAvila-López Iva Tic David Valle-García Marta Ribalta-Vilella Luis Labrador Deb Ranjan Banerjee Ana Guerrero gemma Casadesus Coralie Poulard Mercè Pallàs Christian Grinán-Ferré Department of Pharmacology and Therapeutic Chemistry Institut de Neurociències-Universitat de BarcelonaBarcelonaSpain Department of Biochemistry and Molecular Genetics Feinberg School of MedicineNorthwestern UniversityChicagoILUSA Institute of Biotechnology National Autonomous University of MexicoCuernavacaMexico Department of Pharmacology and Therapeutics Health Science Center-University of FloridaGainesvilleFLUSA Department of Chemistry National Institute of Technology DurgapurM G AvenueDurgapurWest BengalIndia Cancer Research Cancer Lyon Universitéde LyonLyonFrance Inserm U1052 Centre de Recherche en Cancérologie de LyonLyonFrance CNRS UMR5286 Centre de Recherche en Cancérlogie de LyonLyonFrance Centro de Investigación en Red Enfermedades Neurodegenerativas(CIBERNED)Instituto de Salud Carlos IIIMadridSpain Neuroimmunology Department National Institute of Neurology and Neurosurgery“Manuel Velasco Suárez”Mexico CityMexico

Dysregulation of G9a,a histone-lysine N-methyltransferase,has been observed in Alzheimer’s disease and has been correlated with increased levels of chronic inflammation and oxidative ***,microRNAs are involved in many biological processes and diseases playing a key role in pathogenesis,especially in multifactorial diseases such as Alzheimer’s ***,our aim has been to provide partial insights into the interconnection between G9a,microRNAs,oxidative stress,and *** better understand the biology of G9a,we compared the global microRNA expression between senescence-accelerated mouse-prone 8(SAMP8)control mice and SAMP8 treated with G9a inhibitor *** found a downregulation of miR-128 after a G9a inhibition treatment,which interestingly binds to the 3′untranslated region(3′-UTR)of peroxisome-proliferator activator receptor γ(PPARG)***,Pparg gene expression levels were higher in the SAMP8 group treated with G9a inhibitor than in the SAMP8 control *** also observed modulation of oxidative stress responses might be mainly driven Pparg after G9a *** confirm these antioxidant effects,we treated primary neuron cell cultures with hydrogen peroxide as an oxidative *** this setting,treatment with G9a inhibitor increases both cell survival and antioxidant ***,up-regulation of PPARγby G9a inhibitor could also increase the expression of genes involved in DNA damage responses and *** addition,we also described that the PPARγ/AMPK axis partially explains the regulation of autophagy markers ***,PPARγ/GADD45αpotentially contributes to enhancing synaptic plasticity and neurogenesis after G9a ***,we propose that pharmacological inhibition of G9a leads to a neuroprotective effect that could be due,at least in part,by the modulation of PPARγ-dependent pathways by miR-128.

关键词： aging cognitive decline epigenetics G9a inhibition microRNAs miR-128 peroxisome-proliferator activator receptorγ(PPARγ) PPARG SAMP8

Adapt or perish:SARS-CoV-2 antibody escape variants defined by deletions in the Spike N-terminal Domain

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Signal Transduction and Targeted Therapy 2021年第5期6卷 1416-1417页

作者： Marta Ribes Carlos Chaccour gemma Moncunill ISGlobal Hospital Clínic-Universitat de BarcelonaBarcelonaSpain Ifakara Health Institute IfakaraUnited Republic of Tanzania Facultad de Medicina Universidad de NavarraPamplonaSpain

In a recent report in Science,McCarthy et *** observed a pattern of recurrent deletions in four discrete regions of the N-terminal Domain(NTD)of the Spike protein,which provide resistance to antibody neutralization,su... 详细信息

关键词： al. prompt Domain

Occupational exposures and colorectal cancers:A quantitative overview of epidemiological evidence

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World Journal of Gastroenterology 2014年第35期20卷 12431-12444页

作者： Enrico Oddone Carlo Modonesi gemma Gatta Department of Public Health Experimental and Forensic MedicineOccupational Medicine UnitUniversity of Pavia Department of Biosciences Natural History MuseumUniversity of Parma Department of Preventive and Predictive Medicine Evaluative Epidemiology UnitFondazione IRCCS Istituto Nazionale dei Tumori

A traditional belief widespread across the biomedical community was that dietary habits and genetic predisposition were the basic factors causing colorectal *** more recent times,however,a growing evidence has shown that other determinants can be very important in increasing(or reducing) incidence of this *** hypothesis that environmental and occupational risk factors are associated with colorectal cancer is gaining ground,and high risks of colorectal cancer have been reported among workers in some industrial *** aim of this study was to investigate the epidemiologic relationship between colorectal cancer and occupational exposures to several industrial activities,by means of a scientific literature review and *** work pointed out increased risks of colorectal cancer for labourers occupied in industries with a wide use of chemical compounds,such as leather(RR = 1.70,95%CI:1.24-2.34),basic metals(RR = 1.32,95%CI:1.07-1.65),plastic and rubber manufacturing(RR = 1.30,95%CI:0.98-1.71 and RR = 1.27,95%CI:0.92-1.76,respectively),besides workers in the sector of repair and installation of machinery exposed to asbestos(RR = 1.40,95%CI:1.07-1.84).Based on our results,the estimated crude excess risk fraction attributable to occupational exposure ranged from about 11% to about 15%.However,homogeneous pattern of association between colorectal cancer and industrial branches did not emerge from this review.

关键词： Colorectal cancer Occupational exposures Public health Chemical compounds Basic metals Meta analysis

Discussion of some‘knowns’and some‘unknowns’about the tumour suppressor p53

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Journal of Molecular Cell Biology 2019年第3期11卷 212-223页

作者： Elizabeth Lieschke Zilu Wang gemma L Kelly Andreas Strasser The Walter and Eliza Hall Institute of Medical Research Melbourne 3052Australia Department of Medical Biology University of MelbourneMelbourne 3050Australia

Activation of the tumour suppressor p53 upon cellular stress can induce a number of different cellular processes?The diverse actions of these processes are critical for the protective function of p53 in preventing the development of ***,it is still not fully understood which process(es)activated by p53 is/are critical for tumour suppression and how this might differ depending on the type of cells undergoing neoplastic transformstion and the nature of the drivers of ***,it is not clear why upon activation of p53 some cells undergo cell cycle arrest and senescence whereas others die by *** we discuss some of the cellular processes that are crucial for p53-mediated tumour suppression and the factors that could impact cell fate upon p53 ***,we describe therapies aimed either at activating wild-type p53 or at changing the behaviour of mutant p53 to unleash tumour growth suppressive processes for therapeutic benefit in malignant disease.

关键词： p53 tumour suppression cell death cell cycle arrest/senescenee

2020 tropical cyclones in the Philippines: A review

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Tropical Cyclone Research and Review 2021年第3期10卷 191-199页

作者： gemma Dela Cruz Santos College of Education Nueva Ecija University of Science and TechnologyPhilippines

The official website of the Philippine Atmospheric Geophysical and Astronomical Services Administration(PAG AS A)said more tropical cyclones(TCs)enter the Philippine Area of Responsibility(PAR)than anywhere else in the *** the average of 20 TCs per year,about eight(8)or nine(9)of them are crossing the *** peak of the typhoon season is July through October,when nearly 70%of all typhoons develop(http://***/climate/tropical-cyclone-information).Based on the report of the Asian Disaster Reduction Center(ADRC),five of the typhoons that visit the country are destructive and being situated in the"Pacific Ring of Fire"makes the country vulnerable to frequent earthquakes and volcanic *** geographical location and physical environment also contribute to its high susceptibility to tsunami,sea-level rise,storm surges,landslides,flash/flood/flooding,and drought(https://***/***?NationCode=608&Lang=en).For the past years,some typhoons that visited the country brought serious damages and kill many Filipinos by floods and *** researcher comes up with the idea of assessing the aftermath of 2020 typhoons that visited the *** data used by the researcher were collected from different sources,namely NDRRMC(National Disaster Risk Reduction and Management Council),PAGASA,social media and other *** result of the study reveals that the most destructive typhoon in 2020 that caused huge damage on the infrastructure and agriculture is Ulysses followed by Rolly,Quinta,Ambo,Vicky,Pepito,Ofel,and *** of the affected areas are those nearer to water bodies,surrounded by mountains with few trees to absorb a huge amount of water and situated in the low-lying areas.

关键词： ADRC NDRRMC PAGASA TC Pacific ring of fire