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Pedigree and genetic analysis of a novel mutation carrier patient suffering from hereditary nonpolyposis colorectal cancer

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World Journal of Gastroenterology 2006年第8期12卷 1192-1197页

作者： Miklós Tanyi Judith Olasz Géza luk.cs Orsolya Csuka László Tóth Zoltán Szentirmay Zsuzsa Ress Zsolt Barta János L Tanyi László Damjanovich 1~(st)Department of Surgery University of DebrecenMedical and Health Sciences CenterDebrecenHungary Department of Pathogenetics National Institute of OncologyBudapestHungary Department of Pathology University of DebrecenMedical and Health Sciences CenterDebrecenHungary Department of Human and Experimental Tumor Pathology National Institute of OncologyBudapestHungary 3~(rd)Department of Medicine University of DebrecenMedical and Health Sciences CenterDebrecenHungary Department of Obstetrics and Gynecology Baylor College of MedicineHoustonTXUnited States

AIM： To screen a suspected Hungarian HNPCC family to find specific mutations and to evaluate their effect on the presentation of the disease. METHODS： The family was identified by applying the Amsterdam and Bethesda Criteria. Immunohistochemistry was performed, and DNA samples isolated from tumor tissue were evaluated for microsatellite instability. The identification of possible mutations was carried out by sequencing the hMLH1 and hMSH2 genes. RESULTS： Two different mutations were observed in the index patient and in his family members. The first mutation was located in exon 7, codon 422 of hMSH2, and caused a change from Glu to STOP codon. No other report of such a mutation has been published, as far as we could find in the international databases. The second mutation was found in exon 3 codon 127 of the hMSH2 gene, resulting in Asp→Ser substitution. The second mutation was already published, as a non-pathogenic allelic variation. CONCLUSION： The pedigree analysis suggested that the newly detected nonsense mutation in exon 7 of the hMSH2 gene might be responsible for the development of colon cancers. In family members where the exon 7 mutation is not coupled with this missense mutation, colon cancer appears after the age of 40. The association of these two mutations seems to decrease the age of manifestation of the disease into the early thirties.

关键词： Hereditary nonpolyposis colon cancer Bethesda criteria Mutation hMLH1 hMSH2

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Characterisation of Fractures and Fracture Zones in a Carbonate Aquifer Using Electrical Resistivity Tomography and Pricking Probe Methodes

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Journal of Geoscience and Environment Protection 2018年第4期6卷 1-21页

作者： Sándor Szalai Attila kovács luk.cs kuslits Gábor Facskó katalin Gribovszki János kalmár László Szarka MTA CSFk GGI Sopron Hungary MTA-ME Geoengineering Research Group Budapest Hungary

Position, width and fragmentation level of fracture zones and position, sig-nificance and characteristic distance of fractures were aimed to determine in a carbonate aquifer. These are fundamental parameters, e.g. in hydrogeological modelling of aquifers, due to their role in subsurface water movements. The description of small scale fracture systems is however a challenging task. In the test area (kádárta, Bakony Mts, Hungary), two methods proved to be applicable to get reasonable information about the fractures: Electrical Resistivity Tomography (ERT) and Pricking-Probe (PriP). PriP is a simple mechanical tool which has been successfully applied in archaeological investigations. ERT results demonstrated its applicability in this small scale fracture study. PriP proved to be a good verification tool both for fracture zone mapping and detecting fractures, but in certain areas, it produced different results than the ERT. The applicability of this method has therefore to be tested yet, although its problems most probably origin from human activity which reorganises the near-surface debris distribution. In the test site, both methods displayed fracture zones including a very characteristic one and a number of individual fractures and determined their characteristic distance and significance. Both methods prove to be able to produce hydrogeologically important parameters even individually, but their simultaneous application is recommended to decrease the possible discrepancies.

关键词： karst Fracture Fracture Zone Electrical Resistivity Tomography Pricking Probe

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Tumor necrosis factor-α-induced protein 1 and immunity to hepatitis B virus

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World Journal of Gastroenterology 2005年第48期11卷 7564-7568页

作者： Marie C Lin Nikki P Lee Ning Zheng Pai-Hao Yang Oscar G Wong Hsiang-Fu kung Chee-kin Hui John M luk.George ka-kit Lau Institute of Molecular Biology The University of Hong KongHong Kong SAR China Department of Surgery The University of Hong Kong Hong Kong SAR China Center for the Study of Liver Diseases The University of Hong Kong Hong Kong SAR China Department of Medicine The University of Hong Kong Hong Kong SAR China

AIM: To compare the gene expression profile in a pair of HBV-infected ***: The gene expression profile was compared in a pair of HBV-infected ***: The twins displayed different disease outcomes. One acquired natural immunity against HBV,whereas the other became a chronic HBV carrier. Eightyeight and forty-six genes were found to be up- or downregulated in their PBMCs, respectively. Tumor necrosis factor-alpha-induced protein 1 (TNF-αIP1) that expressed at a higher level in the HBV-immune twins was identified and four pairs of siblings with HBV immunity by RTPCR. However, upon HBV core antigen stimulation,TNF-αIP1 was downregulated in PBMCs from subjects with immunity, whereas it was slightly upregulated in HBV carriers. Bioinformatics analysis revealed a k+channel tetramerization domain in TNF-αIP1 that shares a significant homology with some human, mouse, and C elegan ***: TNF-αIP1 may play a role in the innate immunity against HBV.

关键词： TNF-α HBV Immunity

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Effectiveness of a Patient-Specific Immobilization and Positioning System to Limit Interfractional Translation and Rotation Setup Errors in Radiotherapy of Prostate Cancers

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International Journal of Medical Physics, Clinical Engineering and Radiation Oncology 2016年第3期5卷 184-195页

作者： Gilbert Law Ronnie Leung Frankle Lee Hollis luk.ka Chai Lee Frank Wong Matthew Wong Steven Cheung Venus Lee Wing Ho Mui Mark Chan Department of Clinical Oncology Tuen Mun Hospital Hong Kong China

Objective: To evaluate the effectiveness of a patient-specific immobilization and positioning device in prostate radiotherapy. Methods: Eighty patients were immobilized and positioned by a patient-specific device. Prostate translations and rotations were estimated from daily cone beam computed tomography scans using a contour-based approach assisted by auto-registration and quantified by the group mean GM, systematic Σ and random σ' errors. Dosimetric impacts of residual prostate rotations where the translation errors were corrected were evaluated by robustness plan analysis. Results: Using the patient-specific immobilization alone without online image-guidance, the GM, Σ and σ' of the prostate translations were 0.8, 1.7, and 1.5 mm (left-right;LR), 0.8, 2.1, and 1.9 mm (superior-inferior;SI), and 0.5, 1.7 and 1.5 mm (anterior-posterior;AP), while for the prostate rotations they were 0.0°, 0.6°, and 0.7°(pitch), 0.2°, 0.5°, and 0.6°(roll), and 0.2°, 0.5°, and 0.6°(yaw). The resulting van Herk’s margin was 5.8 (LR), 7.3 (SI) and 5.8 (AP) mm. With adaptive online image-guidance based on estimates from the first 5 fractions, Σ were reduced by 0.7 - 1.2 mm for the prostate translations, resulting in a margin reduction by 2 - 3.5 mm. Changes of Σ and σ' in the prostate rotations were insignificant regardless of translation corrections. Dosimetric impacts of residual rotation errors were negligible if a 2 mm margin was applied. Conclusions: Our patient-specific immobilization system can effectively limit the prostate translations and rotations, which is important without 6D treatment couches or using ultrasound image-guidance without rotational corrections.

关键词： Immobilization Prostate CBCT Margin Interfractional Motion

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流感与COVID-19患者的免疫球蛋白G糖基化差异

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Engineering 2023年第7期26卷 54-62,I0003页

作者： Marina kljakovic-Gašpic Batinjan Tea Petrovic Frano Vuckovic Irzal Hadz ibegovic Barbara Radovani Ivana Jurin LovorkaÐerek Eva Huljev Alemka Markotic Ivica luk.ic Irena Trbojevic´-Akmacic Gordan Lauc Ivan Gudelj Rok Civljak University Hospital Centre Zagreb Zagreb 10000Croatia Genos Glycoscience Research Laboratory Zagreb 10000Croatia Department of Cardiology University Hospital DubravaZagreb 10000Croatia Faculty of Dental Medicine and Health Josip Juraj Strossmayer UniversityOsijek 31000Croatia Department of Biotechnology University of RijekaRijeka 51000Croatia Department for Laboratory Diagnostics University Hospital DubravaZagreb 10000Croatia Department for Acute Respiratory Infections University Hospital for Infectious Diseases“Dr.Fran Mihaljevic”Zagreb 10000Croatia Department for Urogenital Infections University Hospital for Infectious Diseases“Dr.Fran Mihaljevic”Zagreb 10000Croatia Department for Infectious Diseases School of MedicineCatholic University of Croatia10000 ZagrebCroatia Postdoctoral Study Faculty of MedicineUniversity of RijekaRijeka 51000Croatia Department of Maxillofacial Surgery University of Zagreb School of MedicineDubrava University HospitalZagreb 10000Croatia Faculty of Pharmacy and Biochemistry University of ZagrebZagreb 10000Croatia Department of Infectious Diseases University of Zagreb School of MedicineZagreb 10000Croatia

The essential role of immunoglobulin G(IgG)in immune system regulation and combatting infectious diseases cannot be fully recognized without an understanding of the changes in its N-glycans attached to the asparagine 297 of the fragment crystallizable(Fc)domain that occur under such *** glycans impact the antibody stability,half-life,secretion,immunogenicity,and effector ***,in this study,we analyzed and compared the total IgG glycome—at the level of individual glycan structures and derived glycosylation traits(sialylation,galactosylation,fucosylation,and bisecting Nacetylglucosamine(GlcNAc))—of 64 patients with influenza,77 patients with coronavirus disease 2019(COVID-19),and 56 healthy *** study revealed a significant decrease in IgG galactosylation,sialylation,and bisecting GlcNAc(where the latter shows the most significant decrease)in deceased COVID19 patients,whereas IgG fucosylation was *** the other hand,IgG galactosylation remained stable in influenza patients and COVID-19 *** glycosylation in influenza patients was more time-dependent:In the first seven days of the disease,sialylation increased and fucosylation and bisecting GlcNAc decreased;in the next 21 days,sialylation decreased and fucosylation increased(while bisecting GlcNAc remained stable).The similarity of IgG glycosylation changes in COVID-19 survivors and influenza patients may be the consequence of an adequate immune response to enveloped viruses,while the observed changes in deceased COVID-19 patients may indicate its deviation.

关键词： Influenza COVID-19 Viral infection Glycosylation Immunoglobulin G Pneumonia

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血液透析病人生存质量质性研究

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护理研究 2008年第23期22卷 2098-2100页

作者：喻惠丹 Weety Suet-Ching luk.李斯俭武汉大学HOPE护理学院香港理工大学护理学院

[目的]探讨血液透析病人的生存质量及其影响因素。[方法]采用质性研究中现象学研究法,对15例血液透析病人进行半结构式深入访谈,并运用Colaizzi分析法对资料进行分析。[结果]5个层面8个主题被提炼,生理层面:生理不适的困扰;精神、心理层... 详细信息

[目的]探讨血液透析病人的生存质量及其影响因素。[方法]采用质性研究中现象学研究法,对15例血液透析病人进行半结构式深入访谈,并运用Colaizzi分析法对资料进行分析。[结果]5个层面8个主题被提炼,生理层面:生理不适的困扰;精神、心理层面:焦虑(等待肾源及对未来的不确定感),抑郁、失落、沮丧(各种消极的情绪影响生存质量);经济层面:沉重的经济负担降低了生存质量;社会层面:无法履行社会职能,家庭支持是面对困难的力量;病人需求层面:完善的社会支持系统及医疗保健制度,相关健康教育知识的普及。[结论]开展以病人为中心的护患交流,提供个性化的护理措施,促进病人生理、心理、社会功能方面的适应,提高病人的生存质量。

关键词：血液透析生存质量质性研究

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Clean Air for Sale in China

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China's Foreign Trade 2014年第3期 37-37页

作者： Joseph luk the China Business Review

As China’s cities experience re-cord numbers of hazardous smog days,sales of residential air purifiers have been *** sales of air purifier products on average increased 11 percent annu-ally between 2010 and 2012,acco... 详细信息

关键词： Clean plenty hazardous residential annually custom

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德国luk.拉机离合器的技术特点及其功能、构造、使用和维修(2)

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农业机械 2005年第11期 105-105页

作者：德国luk.车部件服务公司中国代表处德国luk.汽车部件服务公司中国代表处

双作用离合器双作用离合器实际上包含2个离合器：一个离合器（主离合器）用于实现车轮驱动，另一个离合器（副离合器）用于动力输出。这就要求拖拉机变速箱有2根输入轴，分别用来实现这2种功能。通常我们用同轴的一根实心轴穿在一根空... 详细信息

双作用离合器双作用离合器实际上包含2个离合器：一个离合器（主离合器）用于实现车轮驱动，另一个离合器（副离合器）用于动力输出。这就要求拖拉机变速箱有2根输入轴，分别用来实现这2种功能。通常我们用同轴的一根实心轴穿在一根空心轴中，通过花键使这2根轴分别与2个从动盘联接。根据变速箱结构的不同，联接主、副离合器的轴可以互换。

关键词：主离合器拖拉机特点技术德国构造维修输入轴动力输出双作用

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luk.领先源于创新

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汽车与配件 2006年第7期 35-35页

作者：德国luk.车部件服务公司中国代表处德国luk.车部件服务公司中国代表处

舍弗勒集团及旗下的luk.INA和FAG三个品牌．多年来始终坚持以客户为导向、以创新为动力、以质量为生命的企业发展之路。作为舍弗勒集团汽车部成员之一的luk.于1965年在德国的Buehl市成立，是一家专业的离合器制造商。

关键词：创新企业发展 INA 制造商离合器集团客户品牌

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香港垂直居所的适老设计指引

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南方建筑 2019年第2期 13-18页

作者：陆永康香港理工大学社会创新设计院

全球各地面对急剧的人口老龄化现象,均积极地提出及进行相应的适老居住环境改善计划,目的是提供一个安全畅达的生活环境,让老人能独立及自主地、在原住小区内安居颐年。过去二十多年,不同的国家包括英、美、加、澳、新等,已开始订立及... 详细信息

全球各地面对急剧的人口老龄化现象,均积极地提出及进行相应的适老居住环境改善计划,目的是提供一个安全畅达的生活环境,让老人能独立及自主地、在原住小区内安居颐年。过去二十多年,不同的国家包括英、美、加、澳、新等,已开始订立及实行有关的建筑法例或标准,一般以通用设计(Universal Design)为基础原则,同时建议较高水平的最佳实践(Best Practice),作为更具指导性的行业指引。与此同时,老人失智症(香港称为脑退化症)患病率的普遍性亦急剧上升。环境心理科学亦开始探讨相应的循证设计原则(Evidence Based Design),如脑退化设计(Design for Dementia),以缓解患者生活上的障碍、稳定甚至有助改善证状。故此,适老环境设计有必要在现有的知识基础上,有系统地融汇循证设计原则,并配合香港本身地区性的特质,即高密度垂直城市的居住模式,整合为一整体的人境全息设计指引,积极应对香港面临的城市及人口"双老化"严峻挑占("双老化"Double Ageing是指人口与建筑物同时老化,两者的双重效应能构成严重的社会问题^([1])。)。

关键词：适老环境通用设计循证设计失智症脑退化症人境全息设计香港垂直城市双老化

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