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Next Generation Sequencing in Oncological Diagnostics: Hype or Hope?

Journal of Biosciences and Medicines 2024年第2期12卷 244-256页

作者： Rana Hallak Manfred Kuepper Amer Al Chikh Youssef Department of Biochemistry Faculty of Pharmacy Al Rasheed University Ghabareb Syria Rana Hallak Clinical Laboratory Damascus Kafar Sousseh Syria Department of Biochemistry Faculty of Pharmacy Arab International University Ghabareb Syria doctors cancer care center damascus Damascus Syria

The understanding of how genetic and epigenetic factors influence tumorigenesis, progression and invasion, is vastly growing since new technologies allow the analysis of the functional genome namely the exome, the transcriptome and the epigenome, besides enabling genome-wide assessment of genetic variations. With the advent of new drugs that are indicated tissue agnostic, depending on certain mutations, there is a growing demand for fast and cost-effective genetic diagnosis. The method in focus that already became an indispensable tool in viral diagnosis is next-generation sequencing (NGS). This approach allows sequencing of literally every DNA molecule in the sample and can either be used to assess numerous genetic markers of one patient at a time, or to assess fewer markers of many patients in parallel, which reduces costs. We submitted 23 samples of different tumor entities to four diagnostic companies with different analysis profiles. The results as disclosed and discussed in this report indicate that so far, the main application of NGS is rather in cancer research than in diagnosis, as none of the reports had a real impact on the therapeutic scheme. We are perfectly aware that such a small cohort cannot be generalized, but considering the costs vs. benefits, NGS should be engaged upon a very stringent evaluation only. However, in cases where obtaining a tissue biopsy is impossible or unfavorable, analysis of liquid biopsy by NGS provides a vital alternative.

关键词： Oncology Next Generation Sequencing Tumor Diagnosis Personalized Medicine

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Philippine retinoblastoma initiative multi-eye center study 2010-2020

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International Journal of Ophthalmology(English edition) 2024年第1期17卷 144-156页

作者： Roland Joseph D.Tan Gary John V.Mercado Patricia E.Cabrera Paulita Pamela P.Astudillo Rolando Enrique D.Domingo Josept Mari S.Poblete Charmaine Grace M.Cabebe Adriel Vincent R.Te Melissa Anne S.Gonzales Jocelyn G.Sy Beltran Alexis A.Aclan Jayson T.So Fatima G.Regala Kimberley Amanda K.Comia Josemaria M.Castro Mara Augustine S.Galang Aldous Dominic C.Cabanlas Benedicto Juan E.Aguilar Gabrielle S.Evangelista Jo Michael Maniwan Andrei P.Martin Calvin Y.Martinez John Alfred H.Lim Rena Ivy Bascuna Rachel M.Ng Kevin B.Agsaoay Kris Zanna A.Acluba-Arao Ellaine Rose V.Apostol Beatriz M.Prieto Department of Ophthalmology and Visual Sciences Philippine General HospitalManila 1000Philippines Department of Ophthalmology Baguio General Hospital and Medical CenterBaguio City 2600Philippines Department of Ophthalmology Manila Doctors HospitalManila 1000Philippines Department of Ophthalmology Rizal Medical CenterPasig City 1600Philippines Department of Ophthalmology Jose B.Lingad Memorial Regional HospitalPampanga 2000Philippines Department of Ophthalmology Southern Philippines Medical CenterDavao City 8000Philippines Department of Ophthalmology East Avenue Medical CenterQuezon City 1100Philippines Department of Ophthalmology Northern Mindanao Medical CenterCagayan de Oro City 9000Philippines Department of Ophthalmology Cebu Velez General HospitalCebu City 6000Philippines Legazpi Eye center Legazpi City 4500Philippines Department of Ophthalmology Cagayan Valley Medical CenterTuguegarao City 3500Philippines

AIM:To provide a comprehensive and more representative national data on the disease,especially on treatment options and outcomes,and to determine access of retinoblastoma patients from Luzon,Visayas and Mindanao to eye care,and determine if access is associated with delay in consultation,staging and ***:Cohort study of retinoblastoma patients seen in eleven institutions located in the three major areas of the Philippines namely Luzon,Vizayas and Mindanao from ***:Totally 636 patients,involving 821 eyes,were ***(57%)were from Luzon and were seen in institutions in Luzon(72%).Annually,58±10 new cases were seen with 71%having unilateral *** delay of consultation remained long at 9(3,17)mo,longest in patients with unilateral disease(Pcare institutions especially in the Visayas and financial *** delay was still significant that overall survival rate remain low.

关键词： retinoblastoma Philippines clinical profile

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Multiplex Rapid Test with Acceptable Diagnosis Performance as a Solution to Increase Diagnosis of Hepatitis B and C Viruses in Pregnant Women in an Area of High Prevalence of Both Hepatitis Viruses Associated with HIV

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Open Journal of Medical Microbiology 2024年第1期14卷 50-65页

作者： Catherine Boni-Cisse Nina Esther Onstira Ngoyi Hermione Dahlia Mossoro-Kpinde Noella Packo Rabi Senekian Hermann Ndoidet Koutou Coretha Bokia-Baguida Christelle Luce Bobossi-Gadia Arthur Simplice Sombot-Ndicky Daniel Yvon Gonessa Freddy Samuel Ngbonga Konzapa Voulou Christian Diamant Mossoro-Kpinde Alassane OUATTARA National center of Medical Oncology and Radiotherapy Abidjan Ivory Cost Department of Microbiology UFR of Medical Sciences University of Cocody Abidjan Ivory Cost Laboratory of Bacteriology-Virology of Teaching Hospital center of Brazzaville Brazzaville Republic of Congo Faculty of Health Sciences Marien NGOUABI University Brazzaville Republic of Congo Department of Labor Medicine Service of HIV and STDs Control in the Workplace Bangui Central African Republic (CAR) Faculty of Health Sciences University of Bangui Bangui Central African Republic National Reference center of Sexually Transmitted Diseases and Antiretroviral Therapy Bangui Central African Republic National Laboratory of Clinical Biology and Public Health Bangui Central African Republic Medicine Department District Hospital of Alindao Alindao Ouaka Prefecture Central African Republic Doctoral School of Sciences and Technology University of Bangui Bangui Central African Republic Coordination of Specialized Study of Clinical Biology University of Bangui Bangui Central African Republic doctors without Borders Hospital Sica BanguiCRA Laboratory of Medical Analysis of Teaching Hospital center Mother Elisabeth DOMITIEN of Bimbo Bimbo Central African Republic

Background and Objective: HIV, hepatitis B virus (HBV) and hepatitis C virus (HCV) are very widespread in the world, however, less than 20% of the people affected are diagnosed and treated. This study aimed to determine the prevalence of HIV, HCV and HBV co-infections in pregnant women at Bangui Community University Hospital and the cost of screening. Methods: A cross-sectional study involving consenting pregnant women who came for antenatal care was performed. HIV, HCV antibodies and HBV antigens were detected using Exacto Triplex? HIV/HCV/HBsAg rapid test, cross-validated by ELISA tests. Sociodemographic and professional data, the modes of transmission and prevention of HIV and both hepatitis viruses were collected in a standard sheet and analyzed using the Epi-Info software version 7. Results: Pregnant women aged 15 to 24 were the most affected (45.3%);high school girls (46.0%), and pregnant women living in cohabitation (65.3%) were the most represented. Twenty-five (16.7%) worked in the formal sector, 12.7% were unemployed housewives and the remainder in the informal sector. The prevalence of HIV, HBV, and HCV viruses was 11.8%, 21.9% and 22.2%, respectively. The prevalence of co-infections was 8.6% for HIV-HBV, 10.2% for HIV-HCV, 14.7% for HBV-HCV and 6.5% for HIV-HBV-HCV. All positive results and 10% of negative results by the rapid test were confirmed by ELISA tests. The serology of the three viruses costs 39,000 FCFA (60 Euros) by ELISA compared to 10,000 FCFA (15.00 Euros) with Exacto Triplex? HIV/HCV/AgHBs (BioSynex, Strasbourg, France). Conclusion: The low level of education and awareness of hepatitis are barriers to development and indicate the importance of improving the literacy rate of women in the Central African Republic (CAR). Likewise, the high prevalence of the three viruses shows the need for the urgent establishment of a national program to combat viral hepatitis in the CAR.

关键词： HIV-HCV-HBV Co-Infection Multiplex Immunochromatographic Rapid Test Central Africa Serology Test Cost Diagnostic Accessibility

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Antithrombotic therapy in patients with COVID-19:indications,pharmacotherapy and controversy

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Stroke & Vascular Neurology 2023年第4期8卷 263-265页

作者： David Wang Christopher Leo Liping Liu Li Huang Lisa Huang Yun Lu Department of Neurology Petznick Stroke CenterBarrow Neurological InstitutePhoenixArizonaUSA Department of Medicine/Division of General Internal Medicine/Hospital Medicine Duke UniversityDurhamNorth CarolinaUSA Neurosurgical Intensive care Unit(NICU) Beijing Tiantan HospitalCapital Medical UniversityBeijingChina China National Clinical Research center for Neurological Diseases BeijingChina doctors Medical center ModestoCaliforniaUSA Chesapeake Regional Medical center ChesapeakeVirginiaUSA Hennepin Healthcare System and the University of Minnesota MinneapolisMinnesotaUSA

Hypercoagulability associated with COVID-19 infection increases risks for either venous or arterial thrombotic events(ATEs)or both.1 For hospitalised patients with COVID-19,the incidence of venous thromboembolism(VTE)was 4.5%2;the rate among patients with crit-ical illness was 27.9%as compared with those not critically ill(7.1%).The exact mechanism of COVID-19-related thrombotic events is ***,it may partially be related to Virchow triad:alternation of blood flow(stasis),vascular endothelial injury by SARS-CoV 2 virus and alteration of the constituents of the blood including inherited or acquired hypercoagulable ***,it is a challenge to evaluate the thromboembolic risk,select an appropriate antithrombotic agent and decide on the doses and duration of therapy in these *** international and American societies have published clinical guidelines that reviewed evaluation of coagulation abnormalities in patients with COVID-19.3-6 To balance the risk of bleeding and preventing or treating thromboembolic events,a simplified practical summarisation is needed.

关键词： patients thrombotic doses

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Epidemiologic characteristics of oral cancer:single-center analysis of 4097 patients from the Sun Yat-sen University cancer center

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Chinese Journal of cancer 2016年第4期35卷 190-195页

作者： Ji Zhang Fan Gao An-Kui Yang Wen-Kuan Chen Shu-Wei Chen Huan Li Xing Zhang Zhong-Yuan Yang Xin-Lin Chen Ming Song State Key Laboratory of Oncology in South China Collaborative Innovation Center of Cancer MedicineSun Yat-sen University Cancer Center Department of Head and Neck Surgery Sun Yat-sen University Cancer Center Department of Intensive care Sun Yat-sen University Cancer Center Department of Preventive Medicine and Biostatistics School of Basic Medical ScienceGuangzhou Higher Education Mega CenterGuangzhou University of Chinese Medicine

Background:Oral cancer is a common type of head and neck *** its epidemiologic characteristics is crucial to preventing,diagnosing,and treating this *** study aimed to explore the epidemiologic characteristics of oral cancer in South ***:We retrospectively analyzed data from 4097 oral cancer patients treated at the Sun Yat-sen University cancer center between 1960 and *** compared the age of onset,sex ratio,pathologic type,and primary tumor location among three subcultural areas(Guangfu,Hakka,and Chaoshan) and between an economically developed region and a less-developed one in ***:Overall,oral cancer had a male-to-female ratio of approximately 2:1,and this ratio decreased over *** cancer occurred mostly in patients of 45-64 years old(54.5%),and the percentage of older patients gradually increased over *** most common tumor location was the *** cell carcinoma was the predominant pathologic *** percentage of blood type O in oral cancer patients was lower than that in the healthy *** male-to-female ratio in the Chaoshan area was higher than that in the Guangfu and Hakka areas,whereas the age of disease onset in Guangfu was higher than that in Hakka and *** male-to-female ratio was lower and the age of disease onset was higher in the economically developed region than in the less-developed ***:The incidence of oral cancer in South China presents typical characteristics to which doctors should pay attention when diagnosing and treating oral cancer patients.

关键词： Oral cancer Epidemiology Guangdong

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急性甲型肝炎后进行性肝衰竭:三个月期间出现肝肾综合征并死亡

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Gastroenterology Report 2017年第2期5卷 161-164,I0002页

作者： Tarek Turk Tareq Al Saadi Bisher Sawaf Mahmoud Alkhatib Mhd Ismael Zakaria Bisher Daaboul Faculty of Medicine University of DamascusDamascusSyrian Arab Republic Faculty of Medicine Syrian Private UniversityDamascusSyrian Arab Republic Gastroenterology and Hepatology Medical Care CenterDamascusSyrian Arab Republic

Hepatitis A is a common viral illness *** usually results in an acute,self-limiting disease and only rarely leads to fulminant hepatic failure or any other *** the period of conflict in Syria,and due to the damages to water infrastructure and poor sanitation,a dramatic increase in hepatitis A virus infection has been *** we report a rare case of a 14-year-old male whose hepatitis A was complicated with hepatorenal syndrome and subacute liver *** war condition in Syria impeded transportation of the patient to a nearby country for liver transplantation,contributing to his unfortunate death.

关键词： hepatitis A virus acute liver failure hepatorenal syndrome

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临终患者家庭选择安宁疗护服务的决策过程分析

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International Journal of Nursing Sciences 2022年第1期9卷 71-78,I0004,I0005页

作者：陈春雁来小彬徐爱萍杨霜霜金静娴杨慧峰 Department of Nursing Shanghai Cancer Center of Fudan UniversityShanghaiChina Department of Oncology Shanghai Cancer Center of Fudan UniversityShanghaiChina School of Nursing Fudan UniversityShanghaiChina The Community Health Service center of Chengjiaqiao Road ShanghaiChina The Community Health Service center of Linfen Road ShanghaiChina The Hospice care center Yingyuan HospitalShanghaiChina The Community Health Service center of Jinshanwei Town ShanghaiChina

目的探讨临终患者及其家庭选择安宁疗护病房的原因以及相关的决策过程。方法本研究采用定量和定性相结合的方法。2019年9月至2021年7月选取上海市6所社区卫生服务中心安宁疗护病房住院患者的146名医疗决策者,采用自行编制问卷对其进行... 详细信息

目的探讨临终患者及其家庭选择安宁疗护病房的原因以及相关的决策过程。方法本研究采用定量和定性相结合的方法。2019年9月至2021年7月选取上海市6所社区卫生服务中心安宁疗护病房住院患者的146名医疗决策者,采用自行编制问卷对其进行调查。自设问卷包括决策者一般情况及家庭决策过程2个部分,共10个条目。对其中9名医疗决策者进行访谈,了解他们选择安宁疗护并做出决策的过程并采用内容分析法对访谈资料进行分析。结果结果显示,医疗决策者的平均年龄是57.57岁。56.85%的医疗决策者为患者子女,84.93%的家庭中有其他家庭成员参与到安宁疗护的决策讨论中,仅有43.15%的家庭中患者参与相关讨论。有少数家庭的决策过程中有医生(17.81%)和护士(2.05%)的参与。选择安宁疗护病房的主要原因是患者难以被收治到其他医院(82.19%);在获知安宁疗护病房途径方面,亲友邻居(38.36%)和社会媒体(28.77%)2个途径起到了积极的作用。质性研究结果共提炼出2个主题,6个类别,分别为:选择安宁疗护病房的原因包括无法在家照顾患者,住在安宁疗护病房能减轻居家照顾的压力,无法住进二或三级医院,以及认为安宁疗护病房是适合患者的地方;选择安宁疗护病房的决策过程包括获知安宁疗护病房的途径,以及家庭讨论式的决策方式2个类别。结论对于多数家庭而言,安宁疗护病房是临终患者家庭在经历了照顾压力和现实困难后的一个合理而平衡的选择。在以家庭讨论为主的决策方式中,仍需要提高患者的参与,让家属了解患者的心愿。如何引导临终患者家庭做出合理的医疗决策,媒体可继续发挥积极作用,而医务人员也需更积极地参与到这一决策过程中。

关键词：临终关怀医疗决策家庭社会化媒体

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Influence of Robot-Assisted Tumor Surgery Nursing on Patient Rehabilitation in Operating Room and Discussion on Nursing Strategies

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Journal of cancer Therapy 2023年第9期14卷 367-372页

作者： Yuanyuan Zhang cancer center Sun Yat-Sen University Guangzhou China

Objective: To evaluate the effect of operating room nursing on the outcome of patients undergoing robot-assisted tumor surgery. Methods: This research starts from October 2021 to October 2022. The number of patients with robot-assisted tumor surgery included in our hospital is 769. The patients are treated in the operating room, and the prognosis of the patients is summarized. Results: The intraoperative blood loss in patients undergoing robot-assisted tumor surgery was (57.51 ± 12.01) ml;the operation time was (3.57 ± 0.66) h;and the hospital stay was (6.04 ± 0.53) d. There were 21 cases of complications after robot-assisted tumor surgery, accounting for 2.73%. After surgery, all robot-assisted tumor surgery patients recovered and were discharged smoothly after being checked by doctors. Conclusion: Robot-assisted tumor surgery nursing has a definite effect on patients’ rehabilitation in the operating room.

关键词： Robotics Tumor Surgery Operating Room care Rehabilitation

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Artificial intelligence promotes shared decision-making through recommending tests to febrile pediatric outpatients

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World Journal of Emergency Medicine 2023年第2期14卷 106-111页

作者： Wei-hua Li Bin Dong Han-song Wang Jia-jun Yuan Han Qian Ling-ling Zheng Xu-lin Lin Zhao Wang Shi-jian Liu Bo-tao Ning Dan Tian Lie-bin Zhao Pediatric AI Clinical Application and Research center Shanghai Children’s Medical CenterShanghai 200127China Shanghai Engineering Research center of Intelligence Pediatrics(SERCIP) Shanghai 200127China Child Health Advocacy Institute China Hospital Development Institute of Shanghai Jiao Tong UniversityShanghai 200127China Pediatric Intensive care Unit Shanghai Children’s Medical CenterShanghai Jiao Tong University School of MedicineShanghai 200127China Hangzhou YITU Healthcare Technology Co.Ltd. Hangzhou 310000China

BACKGROUND:To promote the shared decision-making(SDM)between patients and doctors in pediatric outpatient departments,this study was designed to validate artificial intelligence(AI)-initiated medical tests for children with ***:We designed an AI model,named Xiaoyi,to suggest necessary tests for a febrile child before visiting a pediatric outpatient *** calculated the sensitivity,specificity,and F1 score to evaluate the efficacy of Xiaoyi’s *** patients were divided into the rejection and acceptance *** we analyzed the rejected examination items in order to obtain the corresponding ***:We recruited a total of 11,867 children with fever who had used Xiaoyi in outpatient *** recommended examinations given by Xiaoyi for 10,636(89.6%)patients were *** average F1 score reached 0.94.A total of 58.4%of the patients accepted Xiaoyi’s suggestions(acceptance group),and 41.6%refused(rejection group).Imaging examinations were rejected by most patients(46.7%).The tests being time-consuming were rejected by 2,133 patients(43.2%),including rejecting pathogen studies in 1,347 patients(68.5%)and image studies in 732 patients(31.8%).The difficulty of sampling was the main reason for rejecting routine tests(41.9%).CONCLUSION:Our model has high accuracy and acceptability in recommending medical tests to febrile pediatric patients,and is worth promoting in facilitating SDM.

关键词： Artificial intelligence Pediatric outpatient Medical examinations Shared decision-making

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Full neurological recovery from severe nonexertional heat stroke with multiple organ dysfunction:A case report

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World Journal of Clinical Cases 2023年第10期11卷 2355-2362页

作者： Fang Du Jun-Wei Zheng Yan-Bo Zhao Kai Yang Hu-Nian Li Emergency and Critical care center Hubei University of MedicineRenmin HospitalShiyan 442000Hubei ProvinceChina Department of Anesthesiology Hubei University of MedicineRenmin HospitalShiyan 442000Hubei ProvinceChina

BACKGROUND We report a rare case of full neurological recovery from severe nonexertional heat stroke in a 67-year-old woman with an initial Glasgow Coma Scale of *** report raises awareness among doctors that when heatstroke is diagnosed,comprehensive treatment should be implemented as soon as ***,targeted temperature management,combination therapy with hemodialysis and hemoperfusion,and hyperbaric oxygen therapy may alleviate multiorgan failure and prevent neurological sequelae caused by *** SUMMARY A previously healthy 67-year-old woman with an initial Glasgow Coma Scale of 3 was found lying prone on the road at noon on a summer *** tests revealed multiorgan *** soon as heatstroke was diagnosed,comprehensive treatment was *** hospital Day 3,the patient was *** initial Sequential Organ Failure Assessment score at hospitalization was 14 and decreased to 2 on hospital Day *** the seventh day following hospital admission,as the patient’s general condition improved,the levels of laboratory test findings decreased ***,the patient gradually recovered with no other neurological symptoms(the Glasgow Coma Scale at discharge was 15,and her ability to walk independently was restored).CONCLUSION This case demonstrated that targeted temperature management,combination therapy with hemodialysis and hemoperfusion,and hyperbaric oxygen therapy may alleviate multiorgan failure and prevent neurological sequelae caused by heatstroke.

关键词： Heat stroke Multiple organ failure Neurological Recovery Case report

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