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A Synonymous Polymorphism of APCDD1 Affects Translation Efficacy and is Associated with Androgenic Alopecia

Journal of Life Sciences 2014年第2期8卷 106-114页

作者： Nikoletta Nagy katalin farkas Agnes Kinyo Barbara Fazekas Kornelia Szabo Edit Kollar Balazs Sztano Angela Meszes Dora Beke Lajos Kemeny Laszlo Royo Marta Szell Department of Medical Genetics University of Szeged Szeged 6720 Hungary Department of Dermatology andAllergology University ofSzeged Szeged 6720 Hungary Dermatological Research Group Hungarian Academy of Sciences Szeged 6720 Hungary Department of Rhino-Laryngology and Head-Neck Surgery University ofSzeged Szeged 6720 Hungary

The APCDDI （adenomatosis polyposis coli down-regulated 1） gene is an inhibitor of the Wnt signaling pathway, and a rare mutation of this gene has been associated with hereditary hypotrichosis simplex. In this study, the authors aimed to investigate whether common APCDD1 gene polymorphisms contribute to the development of androgenic alopecia. Patients （n = 210） with androgenic alopecia and 98 controls were investigated. SNPs （Single nucleotide polymorphisms） in the coding region of the gene were sequenced. A significant difference in genotype distribution was found for the c. 1781C/T, p.L476L SNP （rs3185480） of the APCDD1 gene. This SNP is located in exon 5 and is associated with a 3.5- and a 2.8-fold increase in risk for the development of androgenic alopecia for homozygote （CI 0.933-13.125; nominal regression P = 0.063） and heterozygote （CI 1.086-7.217; nominal regression P = 0.033） carriers, respectively. These data suggest that the rs3185480 polymorphism contributes to the development of androgenic alopecia. Protein expression experiments revealed that the polymorphism is associated with reduced APCDDI protein abundance. This reduction is likely due to altered codon usage for leucine from a preferred codon （CTC） to a rare codon （CTT）, which might influence translation efficiency and, thus, APCDDI protein level.

关键词： Adenomatosis polyposis coli down-regulated 1 gene hereditary hypotrichosis simplex androgenic alopecia,polymorphism synonymous translation efficacy preferable codon.

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Knowledge explosion for monogenic skin diseases

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World Journal of Dermatology 2015年第1期4卷 44-49页

作者： Nikoletta Nagy katalin farkas Lajos Kemény Márta Széll Dermatological Research Group of the Hungarian Academy of Sciences University of Szeged Department of Dermatology and Allergology University of Szeged Department of Medical Genetics University of Szeged Dermatological Research Group of the Hungarian Academy of Sciences University of Szeged

During the past few decades, the investigative technologies of molecular biology- especially sequencing-underwent huge advances, leading to the sequencing of the entire human genome, as well as the identification of several candidate genes and the causative geneticvariations that are responsible for monogenic skin diseases. These advances provided a solid basis for subsequent studies elucidating mechanisms of monogenic skin diseases and improving our understanding of common skin diseases. Furthermore, these discoveries also contributed to the development of novel therapeutic modalities for monogenic skin diseases. In this review, we have used the disease spectrum caused by mutations in the CYLD gene- Brooke-Spiegler syndrome, familial cylindromatosis and multiple familial trichoepithelioma type 1- as a model for demonstrating the knowledge explosion for this group of diseases.

关键词： Familial trichoepitheliomatosis Familial cylindromatosis Brooke-Spiegler syndrome Monogenic skin diseases

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In-situ study of the microstructure evolution during tension of a Mg-Y-Zn-Al alloy processed by rapidly solidified ribbon consolidation technique

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Journal of Magnesium and Alloys 2024年第5期12卷 2024-2040页

作者： Jeno Gubicza Kristián Máthis Péter Nagy Péter Jenei Zoltán Hegedus Andrea farkas Jozef Vesely Shin-ichi Inoue Daria Drozdenko Yoshihito Kawamura Department of Materials Physics Faculty of ScienceEotvos Loránd UniversityPázmány P.sétány 1/ABudapest H-1117Hungary Department of Physics of Materials Faculty of Mathematics and PhysicsCharles UniversityKe Karlovu 512116 Praha 2Czech Republic Deutsches Elektronen-Synchrotron DESY Notkestr.85Hamburg 22603Germany Magnesium Research Center Kumamoto University2-39-1 KurokamiChuo-kuKumamoto 860-8555Japan

Mg-Y-Zn-Al alloys processed by rapidly solidified ribbon consolidation(RSRC)technique exhibit an exceptional mechanical performance indicating promising application *** material has a bimodal microstructure consisting of fine recrystallized and coarse non-recrystallized grains with solute-rich stacking faults forming cluster arranged layers(CALs)and nanoplates(CANaPs),or complete long period stacking ordered(LPSO)*** order to reveal the deformation mechanisms,in-situ synchrotron X-ray diffraction line profile analysis was employed for a detailed study of the dislocation arrangement created during tension in Mg-0.9%Zn-2.05%Y-0.15%Al(at%)*** uncovering the effect of the initial microstructure on the mechanical performance,additional samples were obtained by annealing of the as-consolidated specimen at 300 and 400℃ for 2 *** heat treatment at 300℃ had no significant effect on the initial microstructure,its evolution during tension and,thus,the overall deformation behavior under tensile *** the other hand,annealing at 400℃ resulted in a significant increase of the recrystallized grains fraction and a decrease of the dislocation density,leading to only minor degradation of the mechanical *** maximum dislocation density at the failure of the samples corresponding to the plastic strain of 10-25% was estimated to be about 16-20×10^(14)m^(-2).The diffraction profile analysis indicated that most dislocations formed during tension were of non-basal and pyramidal types,what was also in agreement with the Schmid factor values revealed independently from orientation *** was also shown that the dislocation-induced Taylor hardening was much lower below the plastic strain of 3% than above this value,which was explained by a model of the interaction between prismatic dislocations and CANaPs/LPSO plates.

关键词： Mg-Zn-Y-Al alloy Long period stacking ordered(LPSO)phase Cluster arranged nanoplates(CANaPs) Annealing Tension Dislocation density Hardening

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Effects of neoadjuvant chemotherapy vs chemoradiotherapy in the treatment of esophageal adenocarcinoma:A systematic review and meta-analysis

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World Journal of Gastroenterology 2024年第11期30卷 1621-1635页

作者： Armand Csontos Alíz Fazekas Lajos Szakó Nelli farkas Csenge Papp Szilárd Ferenczi Szabolcs Bellyei Péter Hegyi András Papp Department of Surgery University of PécsMedical SchoolClinical CenterPécs H-7624BaranyaHungary Institute of Bioanalysis University of PécsMedical SchoolPécs H-7624BaranyaHungary Institute for Translational Medicine University of PécsMedical SchoolPécs H-7624BaranyaHungary Department of Emergency Medicine Clinical CenterUniversity of PécsMedical SchoolPécs 7624BaranyaHungary Department of Oncotherapy University of PécsMedical SchoolClinical CenterPécs H-7624BaranyaHungary Centre for Translational Medicine Semmelweis UniversityBudapest 1085Hungary Institute of Pancreatic Diseases Semmelweis UniversityBudapest H-1083Hungary

BACKGROUND Neoadjuvant therapy is an essential modality for reducing the clinical stage of esophageal cancer;however,the superiority of neoadjuvant chemotherapy(nCT)or neoadjuvant chemoradiotherapy(nCRT)is ***,a discussion of these two modalities is *** To investigate the benefits and complications of neoadjuvant *** To address this concern,predefined criteria were established using the PICO *** independent authors performed comprehensive searches using predetermined *** analyses were performed to identify significant differences between *** publication bias was visualized using funnel *** quality of the data was evaluated using the Risk of Bias Tool 2(RoB2)and the GRADE *** Ten articles,including 1928 patients,were included for the *** difference was detected in pathological complete response(pCR)[P<0.001;odds ratio(OR):0.27;95%CI:0.16-0.46],30-d mortality(P=0.015;OR:0.4;95%CI:0.22-0.71)favoring the nCRT,and renal failure(P=0.039;OR:1.04;95%CI:0.66-1.64)favoring the *** significant differences were observed in terms of survival,local or distal recurrence,or other clinical or surgical *** result of RoB2 was moderate,and that of the GRADE approach was low or very low in almost all *** Although nCRT may have a higher pCR rate,it does not translate to greater long-term ***,nCRT is associated with higher 30-d mortality,although the specific cause for postoperative complications could not be *** the case of nCT,toxic side effects are suspected,which can reduce the quality of *** the quality of available studies,further randomized trials are required.

关键词： Neoadjuvant Chemotherapy Chemoradiotherapy Esophageal cancer Adenocarcinoma

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Long-term outcomes after endoscopic removal of malignant colorectal polyps:Results from a 10-year cohort

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World Journal of Gastrointestinal Endoscopy 2024年第4期16卷 193-205页

作者： Anna Fábián Renáta Bor Béla Vasas Mónika Szűcs Tibor Tóth Zsófia Bősze Kata Judit Szántó Péter Bacsur Anita Bálint Bernadett farkas Klaudia farkas Ágnes Milassin Mariann Rutka Tamás Resál Tamás Molnár Zoltán Szepes Department of Internal Medicine University of SzegedSzent-Györgyi Albert Medical SchoolSzeged 6725Hungary Department of Pathology University of SzegedSzent-Györgyi Albert Medical SchoolSzeged 6725Hungary Department of Medical Physics and Medical Informatics University of SzegedSzent-Györgyi Albert Medical SchoolSzeged 6720Hungary USZ Translational Colorectal Research Group Hungarian Centre of Excellence for Molecular MedicineSzeged 6725Hungary

BACKGROUND Choosing an optimal post-polypectomy management strategy of malignant colorectal polyps is challenging,and evidence regarding a surveillance-only strategy is *** To evaluate long-term outcomes after endoscopic removal of malignant colorectal *** A single-center retrospective cohort study was conducted to evaluate outcomes after endoscopic removal of malignant colorectal polyps between 2010 and *** disease rate and nodal metastases after secondary surgery and local and distant recurrence rate for those with at least 1 year of follow-up were *** rates for categorical variables and means for continuous variables with 95%confidence intervals were calculated,and Fisher’s exact test and Mann-Whitney test were *** risk factors of adverse outcomes were RESULTS In total,135 lesions(mean size:22.1 mm;location:42%rectal)from 129 patients(mean age:67.7 years;56%male)were *** proportion of pedunculated and non-pedunculated lesions was similar,with en bloc resection in 82%and 47%of lesions,*** differentiation,distance from resection margins,depth of submucosal invasion,lymphovascular invasion,and budding were reported at 89.6%,45.2%,58.5%,31.9%,and 25.2%,*** tumor was found in 10 patients,and nodal metastasis was found in 4 of 41 patients who underwent secondary surgical *** analysis identified piecemeal resection as a risk factor for residual malignancy(odds ratio:1.74;P=0.042).At least 1 year of follow-up was available for 117 lesions from 111 patients(mean follow-up period:5.59 years).Overall,54%,30%,30%,11%,and 16%of patients presented at the 1-year,3-year,5-year,7-year,and 9-10-year surveillance *** outcomes occurred in 9.0%(local recurrence and dissemination in 4 patients and 9 patients,respectively),with no difference between patients undergoing secondary surgery and surveillance *** Reporting of histological featur

关键词： Malignant colorectal polyps T1 tumor Endoscopic removal Outcomes Long-term Surveillance

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Selective Absorber Coatings and Technological Advancements in Performance Enhancement for Parabolic Trough Solar Collector

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Journal of Thermal Science 2022年第6期31卷 1990-2008页

作者： ASAAD YASSEEN Al-Rabeeah ISTVAN Seres ISTVAN farkas Doctoral School of Mechanical Engineering Hungarian University of Agriculture and Life SciencesGodollo H-2100Hungary Institute of Mathematics and Basic Science Hungarian University of Agriculture and Life SciencesGodollo H-2100Hungary Institute of Technology Hungarian University of Agriculture and Life SciencesGodollH-2100Hungary

Parabolic trough solar collector systems are the most advanced concentrating solar power technology for large-scale power generation purposes. The current work reviews various selective coating materials and their characteristics for different designs in concentrating solar power. Solar selective absorbing coatings collect solar radiation and convert it to heat. To promote higher efficiency and lower energy costs at higher temperatures requires, this study aims to analyse the fundamental chemistry and thermal stability of some key coatings currently being used and even under investigation to find reasons for differences, information gaps and potential for improvement in results. In recent years, several novel and useful solar absorber coatings have been developed. However, qualification test methods such as corrosion resistance, thermal stability testing and prediction of service life, which have essential technical value for large-scale solar absorbers, are lacking. Coatings are used to enhance the performance of reflectors and absorbers in terms of quality, efficiency, maintenance and cost. Differentiated coatings are required as there are no uniformly perfect materials in various applications, working conditions and material variations. Much more knowledge of the physical and chemical properties and durability of the coatings is required, which will help prevent failures that could not be discovered previously.

关键词： Parabolic trough solar collector selective coatings absorber receivers optical properties thermal stability

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Intralesional steroid is beneficial in benign refractory esophageal strictures:A meta-analysis

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World Journal of Gastroenterology 2018年第21期24卷 2311-2319页

作者： László Szapáry Benedek Tinusz Nelli farkas katalin Márta Lajos Szakó Agnes Meczker Roland Hágendorn Judit Bajor Aron Vincze Zoltan Gyongyi Alexandra Mikó Dezso Csupor Péter Hegyi Balint Eross Institute for Translational Medicine Medical SchoolUniversity of PécsPécs 7624Hungary Institute of Bioanalysis Medical SchoolUniversity of PécsPécs 7624Hungary Department of Gastroenterology First Department of MedicineMedical SchoolUniversity of PécsPécs 7624Hungary Department of Public Health Medicine Medical SchoolUniversity of PécsPécs 7624Hungary Department of Pharmacognosy Faculty of PharmacyUniversity of SzegedSzeged 6720Hungary

AIM To analyze the effect of intralesional steroid injections in addition to endoscopic dilation of benign refractory esophageal *** A comprehensive search was performed in three databases from inception to 10 April 2017 to identify trials, comparing the efficacy of endoscopic dilation to dilation combined with intralesional steroid injections. Following the data extraction, meta-analytical calculations were performed on measures of outcome by the randomeffects method of Der Simonian and Laird. Heterogeneity of the studies was tested by Cochrane's Q and I^2 statistics. Risk of quality and bias was assessed by the Newcastle Ottawa Scale and JADAD assessment *** Eleven articles were identified suitable for analyses, involving 343 patients, 235 cases and 229 controls in total. Four studies used crossover design with 121 subjects enrolled. The periodic dilation index(PDI) was comparable in 4 studies, where the pooled result showed a significant improvement of PDI in the steroid group(MD:-1.12 dilation/month, 95% CI:-1.99 to -0.25 P = 0.012; I^2 = 74.4%). The total number of repeat dilations(TNRD) was comparable in 5 studies and showed a non-significant decrease(MD:-1.17, 95%CI:-0.24-0.05, P = 0.057; I^2 = 0), while the dysphagia score(DS) was comparable in 5 studies and did not improve(SMD: 0.35, 95%CI:-0.38, 1.08, P = 0.351; I^2 = 83.98%) after intralesional steroid *** Intralesional steroid injection increases the time between endoscopic dilations of benign refractory esophageal strictures. However, its potential role needs further research.

关键词： Intralesional steroid Meta-analysis Benign refractory esophageal stricture Dilation

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Polysorb^R(an absorbable lactomer) staples, a safe closure technique for distal pancreatic resection

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World Journal of Gastroenterology 2014年第45期20卷 17185-17189页

作者： Gyula farkas László Leindler János Márton Gyorgy Lázár Gyula farkas Department of Surgery Faculty of Medicine University of Szeged H-6701 SzegedHungary

AIM:To investigate twenty-year experience evaluated the use of the PolysorbR(an absorbable lactomer)staples for distal pancreatic ***:The data on 150 patients[92 men,58women,mean age 52(24-72)years]who underwent distal pancreatectomy(DP)in the last 20 years were collected prospectively from an electronic *** diagnosis was confirmed by endoscopic retrograde cholangiopancreatography,sonography,computed tomography and/or magnetic resonance *** indications for DP were focal pancreatic necrosis,spontaneous pancreatic fistulas,abscesses,pseudocysts,segmental chronic obstructive pancreatitis in the tail,traumatic disruption,and benign(cystadenomas,insulinomas,or glucagonomas)or malignant *** distal resections were performed without splenectomy in 29 of the 150 patients(19%).In the event of splenectomy,the splenic artery and vein were individually ligated,the TA-55 Auto Suture stapler,loaded with Premium PolysorbR 55 staples(5.5mm),was placed across the gland,and the trigger was pulled,the action of which produced two staggered absorbable suture *** gland distal to the stapler wasthen amputated with a scalpel on the TA-55 stapler and the two rows of staples were left in the proximal pancreatic *** the distal resection,a drainage tube was inserted into the pancreatic ***:The average duration of the operation was150 min(range:90-210 min)and no transfusion was indicated during the *** DP in one patient a type B fistula was diagnosed,which was treated successfully by conservative treatment comprising of 12-d octreotide medication(3×0.1 mg/d)and jejunal *** incidence of postoperative pancreatic fistula was therefore0.6%.Another 2 patients suffered postoperative pancreatitis,which was also conservatively *** were performed in 2 patients on the first or second postoperative day,necessitated by bleeding from the retroperitoneal *** morbidity was 3.3%(5 patients),but no mortality

关键词： Distal pancreatic resection PolysorbR sta-ples Closure technique Long-term experience Pancre-atic fistula

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Restoration of energy level in the early phase of acute pediatric pancreatitis

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World Journal of Gastroenterology 2017年第6期23卷 957-963页

作者： Dóra Mosztbacher Nelli farkas Margit Solymár Gabriella Pár Judit Bajor ákos Szucs József Czimmer katalin Márta Alexandra Mikó Zoltán Rumbus Péter Varjú Péter Hegyi Andrea Párniczky First Department of Pediatrics Semmelweis University Institute for Translational Medicine University of Pécs Institute for Bioanalyses University of Pécs Department of Gastroenterology First Department of MedicineUniversity of Pécs Department of Translational Medicine First Department of MedicineUniversity of Pécs First Department of Surgery Semmelweis University Hungarian Academy of Sciences-University of Szeged Momentum Gastroenterology Multidisciplinary Research Group Heim Pál Children’s Hospital

Acute pancreatitis (AP) is a serious inflammatory disease with rising incidence both in the adult and pediatric populations. It has been shown that mitochondrial injury and energy depletion are the earliest intracellular events in the early phase of AP. Moreover, it has been revealed that restoration of intracellular ATP level restores cellular functions and defends the cells from death. We have recently shown in a systematic review and meta-analysis that early enteral feeding is beneficial in adults; however, no reviews are available concerning the effect of early enteral feeding in pediatric AP. In this minireview, our aim was to systematically analyse the literature on the treatmentof acute pediatric pancreatitis. The preferred reporting items for systematic review(PRISMA-P) were followed, and the question was drafted based on participants, intervention, comparison and outcomes: P: patients under the age of twenty-one suffering from acute pancreatitis; I: early enteral nutrition (per os and nasogastric- or nasojejunal tube started within 48 h); C: nil per os therapy; O: length of hospitalization, need for treatment at an intensive care unit, development of severe AP, lung injury (including lung oedema and pleural effusion), white blood cell count and pain score on admission. Altogether, 632 articles (Pub Med: 131; EMBASE: 501) were found. After detailed screening of eligible papers, five of them met inclusion criteria. Only retrospective clinical trials were available. Due to insufficient information from the authors, it was only possible to address length of hospitalization as an outcome of the study. Our mini-meta-analysis showed that early enteral nutrition significantly(SD = 0.806, P = 0.034) decreases length of hospitalization compared with nil per os diet in acute pediatric pancreatitis. In this minireview, we clearly show that early enteral nutrition, started within 24-48 h, is beneficial in acute pediatric pancreatitis. Prospective studies and better pres

关键词： pediatric pancreatitis enteral nutrition nil per os diet ATP restoration length of hospitalization

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Winter is coming:care of the febrile children in the time of COVID-19

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World Journal of Pediatrics 2021年第1期17卷 6-7页

作者： Nicole Gerber Jonathan S.farkas Adam J.Ratner Weill Cornell Medical Center New York Presbyterian525 East 68th StreetM-131New YorkNY 10021USA Department of Emergency Medicine Division of Pediatric Emergency Medicine525 East 68th StreetM130New YorkNY 10021USA New York University Langone Health/Bellevue Hospital Center 462 First AveNew YorkNY 10016USA

In the pediatric emergency department(PED),winter seems to arrive earlier each *** the broken bones and lac-erations of the summer,the winter season brings fevers and respiratory *** is our bread and butter-it is the most common reason for PED visits[1].Fever phobia is ingrained in our society[2].In the pre-vaccine era,a febrile child was cause for concern;those who were ill-appearing had high rates of bacterial meningitis,and even well-appear-ing children could not be rapidly *** bac-teremia was a common condition in well-appearing young febrile children and frequently required laboratory evalua-tion and treatment with empiric antibiotics[3].

关键词： febrile winter children

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