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Germline mutation analysis of hPMs2 gene in Chinese families with hereditary nonpolyposis colorectal cancer

第10次全国口腔颌面医学影像学专题研讨会暨国家级口腔颌面医学影像诊断学新进展学习班

作者： wang shaoying,shi huimin department of radiology,ninth people’s hospital,school of medicine,shanghai jiao tong university,639 zhi zao ju road,shanghai 200011,china

Objective:The purpose of this study was to determine the computed tomography(CT) findings of pigmented viilonoduiar synovitis(PVNs) of the temporomandibular joint(TMJ). study design:Eight subjects with PVNs were exami...

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World Journal of Gastroenterology 2010年第30期16卷 3847-3852页

作者： Xia sheng, Xiao-Yan Zhou, Xiang Du, Tai-Ming Zhang, WeiQi sheng, Da-Ren shi, department of Pathology, shanghai Cancer Center, Fudan university, shanghai 200032, china department of Oncology, shanghai Medical College, Fudan university, shanghai 200032, china Heng-Hua Zhou, department of Pathology, shanghai ninth people’s hospital Affi liated to shanghai jiao tong university school of medicine, shanghai 200011, china san-jun Cai, department of Abdominal surgery, Cancer Center, Fudan university, shanghai 200032, china department of Pathology Shanghai Cancer Center Fudan University Shanghai 200032 China.

AIM: To study the germline mutation of hPMs2 gene in 26 unrelated Chinese hereditary nonpolyposis colorectal cancer (HNPCC) probands and to fulfill the screening strategy for HNPCC in Chinese. METHODs: Genomic DNA was extracted from the peripheral blood. To avoid the interference of pseudogene in detection of the remaining 11 exons (exon 1-5, 9, 11-15), long-range polymerase chain reaction (PCR) was conducted to amplify the complete coding region of hPMs2 gene firstly. Then 1/8 of the PCR productswere used as template to amplify the individual exon respectively and DNA sequencing was done. Direct DNA sequencing of the conventional PCR products of exon 6, 7, 8 and 10 of hPMs2 gene was performed. The same analysis was made in 130 healthy persons without family histories of HNPCC to further investigate the pathological effects of the detected missense mutation. REsULTs: One HNPCC proband fulf illed Bethesda guidelines and was found to carry the germline mutation of hPMs2 gene, which has not been reported in Chinese HNPCC families. It was a missense mutation at c.1532C>T of exon 11. It was detected in three controls as well with an occurrence rate of 2.3% (3/130). since it could not be found in the PMs2-single nucleotide polymorphism (sNP) database, this missense mutation is a new sNP unreported up to date. Meanwhile, 260 reported sNPs of hPMs2 gene were detected in the 26 HNPCC probands. The 2nd and 5th exons were probably the hot sNP regions of hPMs2 gene in Chinese HNPCC families involving 53.1% of all reported sNP. CONCLUsION: The germline mutation of hPMs2 gene may be rare in Chinese HNPCC families. The 2nd and 5th exons are hot sNP regions of hPMs2 gene.

关键词： Hereditary nonpolyposis colorectal cancer hPMs2 Missense mutation single nucleotide polymorphism Colorectal cancer

Acinic cell carcinoma of the parotid gland:MR features

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Acinic cell carcinoma of the parotid gland:MR features

Pars plana vitrectomy for retinal detachment using perfluoro-n-octane as intraoperative tamponade:a multicenter,randomized,non-inferiority trial

The 9th Asian Congress of Oral and Maxillofacial radiology

作者： shi huimin wang shaoying department of radiology ninth people’s hospital school of medicine shanghai jiao tong university

＜正＞Aims:To evaluate the diagnostic value of MR imaging feature and conventional contrast -enhanced MR imaging appearance in acinic cell carcinoma of the parotid gland. Methods:We retrospectively reviewed pre- and p...

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International Journal of Ophthalmology(English edition) 2024年第1期17卷 82-91页

作者： Xin shi Wei-jun wang Ying Fan Hai-Yun Liu Hong wang Yu-Hui Chen Ao Rong zhi-Feng Wu Xun Xu Kun Liu department of Ophthalmology Shanghai General HospitalShanghai Jiao Tong University School of MedicineNational Clinical Research Center for Eye DiseasesShanghai Key Laboratory of Ocular Fundus DiseasesShanghai Engineering Center for Visual Science and PhotomedicineShanghai Engineering Center for Precise Diagnosis and Treatment of Eye DiseasesShanghai 200085China shanghai Jieshi Medical Technology Co.Ltd. Shanghai 201201China department of Ophthalmology Tongji HospitalSchool of MedicineTongji UniversityShanghai 200065China department of Ophthalmology Wuxi No.2 People’s Hospital(Jiangnan University Medical CenterJUMC)Wuxi 214002Jiangsu ProvinceChina

AIM:To evaluate the efficacy and safety of perfluoro-n-octane(PFO)for ophthalmic surgery versus F-Octane as an intraoperative tamponade in pars plana vitrectomy(PPV)in management of retinal ***:This multicenter,prospective,randomized,double-masked,parallel-controlled,non-inferiority trial was conducted in three ophthalmology clinical centers in *** with retinal detachment,who were eligible for PPV were consecutively *** were assigned to PFO for ophthalmic surgery or F-Octane for intraocular tamponade in a 1:1 ***-corrected visual acuity(BCVA),intraocular pressure(IOP)measurement,and dilated fundus examination were performed preoperatively and at 1,7±1,28±3d *** primary outcome was complete retinal reattachment rate at postoperative day *** non-inferiority margin was set at 9.8%.The secondary outcomes included intraoperative retinal reattachment rate,and mean changes in IOP and BCVA from baseline to 1,7±1,28±3d postoperatively,*** analyses were presented for all randomly assigned participates in this ***:Totally 124 eligible patients completed the study between Mar.14,2016 and jun.7,*** of them were randomly assigned to the PFO for ophthalmic surgery group,and 64 were assigned to the F-Octane *** characteristics were comparable between the two *** groups achieved 100%retinal reattachment at postoperative day one(difference 0,95%CI:-6.21%to 5.75%,P=1).The pre-defined noninferiority criterion was *** significant difference was observed in intraoperative retinal reattachment rate(difference 1.77%,P=0.61),mean changes in IOP(difference 0.36,-0.09,2.22 mm Hg at 1,7±1,28±3d postoperatively,with all P>0.05)and BCVA(difference 0.04,-0.02,0.06 logMAR at 1,7±1,28±3d postoperatively,all P>0.05)between the two *** apparent adverse events related to the utilization of PFO were ***:In patients with retinal detachment undergoing PPV,PFO

关键词： perfluoro-n-octane vitreoretinal surgery intraocular tamponade ophthalmic surgery retinal detachment

A multicenter prospective study on the management of hepatoblastoma in children:a report from the Chinese Children's Cancer Group

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World Journal of Pediatrics 2024年第6期20卷 590-601页

作者： Meng-Jie Tang Xiao-Li Ma Xiang-Ling He Wei-Hua Pan Xiao-Hong Zhang sha-Yi Jiang ju Gao Fu Li Wei Yao song Gu Wei-Ling Zhang Qiang Zhao shi-Hao Huang Yong-jun Fang Wei Liu Hui-Zhong Niu Chun-Mei wang Li-Rong sun Hui Gao Yun-Peng Dai shun-Gen Huang zhi-Yong Zhong Xi-Ge wang Zhong-Rong Li Liang-Chun Yang Ye-Ming Wu Huan-Min wang Xin sun Xiao-jun Yuan department of Pediatric Hematology/Oncology Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of MedicineNo.1665Kongjiang RoadYangpu DistrictShanghai 200092China Medical Oncology department Pediatric Oncology CenterBeijing Children's HospitalCapital Medical UniversityNational Center for Children's HealthBeijing 100045China department of Hematology/Oncology Children's Medical CenterHunan Provincial People's HospitalThe First Affiliated Hospital of Hunan Normal UniversityChangsha 41005China department of Pediatric surgery Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of MedicineShanghai 200092China department of Hematology/Oncology Guangzhou Women and Children's Medical CenterNational Children's Medical Center for South Central RegionGuangzhou 510623China department of Hematology Shanghai Children's HospitalShanghai Jiao Tong UniversityShanghai 200062China department of Pediatrics West China Second University HospitalSichuan UniversityChengdu 610041China department of Hematology/Oncology Qilu Children's Hospital of Shandong UniversityJinan 250022China department of Pediatric surgery Children's Hospital of Fudan UniversityShanghai 201102China department of General surgery Shanghai Children's Medical Center(National Children's Medical Center-Shanghai)Shanghai Jiao Tong University School of MedicineShanghai 200127China department of Pediatrics Beijing Tongren HospitalCapital Medical UniversityBeijing 100730China department of Pediatric Oncology Tianjin Medical University Cancer Institute and HospitalTianjin 300060China department of Hematology/Oncology Children's Hospital of Nanjing Medical UniversityNanjing 210008China department of Hematology/Oncology Henan Children's HospitalZhengzhou 450018China department of Pediatric General surgery Hebei Children's Hospital of Hebei Medical UniversityShijiazhuang City 050031China Children's hospital the First Affliated Hospital of Zhengzhou UniversityZhengzhou 450052China department of Paediatric

Background This study aimed to identify survival risk factors in Chinese children with hepatoblastoma(HB)and assess the effectiveness of the new treatment protocol proposed by the Chinese Children's Cancer Group(CCCG)in *** A multicenter,prospective study that included 399 patients with HB from January 2015 to june 2020 was *** demographics,treatment protocols,and other related information were *** regression models and Kaplan-Meier curve methods were *** The 4-year event-free survival(EFs)and overall survival(Os)were 76.9 and 93.5%,*** 4-year EFs rates for the very-low-risk,low-risk,intermediate-risk,and high-risk groups were 100%,91.6%,81.7%,and 51.0%,*** 4-year 0s was 100%,97.3%,94.4%,and 86.8%,*** regression analysis found that age,tumor rupture(R+),and extrahepatic tumor extension(E+)were independent prognostic factors.A total of 299 patients had complete remission,and 19 *** with declining alpha-fetoprotein(AFP)>75%after the first two cycles of neoadjuvant chemotherapy had a better EFs and Os than those≤75%.Conclusions The survival outcome of HB children has dramatically improved since the implementation of CCCG-HB-2016 ***≥8 years,R+,and E+were independent risk factors for *** with a declining AFP>75%after the first two cycles of neoadjuvant chemotherapy had better EFs and Os.

关键词： Alpha-fetoprotein Hepatoblastoma Multicenter Prospective study survival

Clinical practice guideline for acupuncture and moxibustion:Allergic rhinitis

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Journal of Integrative medicine 2024年第3期22卷 245-257页

作者： shi-hao Du sheng Chen shan-ze wang Guan-qun wang shuo Du Wei Guo Xiao-long Xie Bi-hui Peng Chao Yang Ji-ping Zhao Institute of Acupuncture and Moxibustion China Academy of Chinese Medical SciencesBeijing 100700China department of Acupuncture and Moxibustion Dongzhimen HospitalBeijing University of Chinese MedicineBeijing 100700China department of Acupuncture and Moxibustion Guangdong Provincial Hospital of Chinese MedicineGuangzhou 510120Guangdong ProvinceChina department of Traditional Chinese medicine Shanghai Ninth People’s HospitalShanghai Jiao Tong University School of MedicineShanghai 200011China

Acupuncture is one of the most effective complementary therapies for allergic rhinitis(AR)and has been recommended by several clinical practice guidelines(CPGs)for ***,these CPGs mentioned acupuncture without making recommendations for clinical implementation and therapeutic protocols,therefore limiting the applicability of acupuncture therapies for ***,for the benefit of acupuncture practitioners around the world,the World Federation of Acupuncture-moxibustion societies have initiated a project to develop the CPG for the use of acupuncture and moxibustion to treat *** CPG was developed according to the Grading of Recommendations Assessment,Development,and Evaluation(GRADE)methodology,referring to the principles of the World Health Organization Handbook for Guideline *** the development of the CPG,the guideline development group(GDG)played an important *** clinical questions,recommendations and therapeutic protocols were all formulated by the GDG using the modified Delphi *** CPG contains recommendations for 15 clinical questions about the use of acupuncture and moxibustion *** include one strong recommendation for the intervention based on high-quality evidence,three conditional recommendations for either the intervention or standard care,and 11 conditional recommendations for the intervention based on very low quality of *** CPG also provides one filiform needle acupuncture protocol and five moxibustion protocols extracted based on the protocols presented in randomized controlled trials reviewed by the GDG.

关键词： Clinical practice guideline Allergic rhinitis Acupuncture Moxibustion GRADE

Clinical practice guideline for acupuncture and moxibustion: Female urinary incontinence

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Journal of Integrative medicine 2024年第3期22卷 258-269页

作者： Chao Yang shan-ze wang sheng Chen shuo Du Guan-qun wang Wei Guo Xiao-long Xie Bi-hui Peng shi-hao Du Ji-ping Zhao department of Acupuncture and Moxibustion Dongzhimen HospitalBeijing University of Chinese MedicineBeijing 100700China department of Acupuncture and Moxibustion Guangdong provincial hospital of Chinese MedicineGuangzhou 510120Guangdong ProvinceChina shanghai ninth people’s hospital Shanghai Jiao Tong University School of MedicineShanghai 200011China Institute of Acupuncture and Moxibustion China Academy of Chinese Medical SciencesBeijing 100700China

Urinary incontinence (UI) is a common problem *** has a major impact on physical and social activities and interpersonal *** is common in women,but is under-reported and *** affects the quality of life of female patients *** and moxibustion have been proposed as potentially effective interventions for female ***,for the benefit of acupuncture practitioners around the world,the World Federation of Acupuncture-moxibustion societies initiated a project to develop a clinical practice guideline (CPG) for the use of acupuncture and moxibustion to treat female *** CPG was developed according to the Grading of Recommendations Assessment,Development,and Evaluation (GRADE) methodology,referring to the principles of the World Health Organization Handbook for Guideline *** the development of the CPG,the guideline development group (GDG) played an important *** clinical questions,recommendations and therapeutic protocols were all formulated by GDG using the modified Delphi *** CPG contains ten recommendations about the use of acupuncture and moxibustion interventions for ten clinical questions,which include nine conditional recommendations for the intervention and one conditional recommendation for either the intervention or the *** CPG also provides one protocol for conventional filiform needle therapy,two therapy protocols for deep needling stimulation on lumbosacral acupoints,and four moxibustion therapy protocols,based on the protocols presented in randomized controlled trials reviewed by the GDG.

关键词： Acupuncture Clinical practice guideline Female urinary incontinence Moxibustion GRADE

Prognostic factors for lacrimal gland adenoid cystic carcinoma:a retrospective study in Chinese patients

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International Journal of Ophthalmology(English edition) 2024年第8期17卷 1423-1430页

作者： Lu-Di Yang shi-Chong Jia Jie Yang Xin song Ye-Fei wang Xian-Qun Fan department of Ophthalmology Ninth People’s HospitalShanghai Jiao Tong University School of MedicineShanghai 200011China shanghai Key Laboratory of Orbital Diseases and Ocular Oncology Shanghai 200011China Tianjin Eye hospital Tianjin Key Lab of Ophthalmology and Visual ScienceNankai University Affiliated Eye HospitalTianjin Eye InstituteTianjin 300074China

AIM:To explore the prognostic factors for lacrimal gland adenoid cystic carcinoma(LGACC)in Chinese ***:Clinical and histopathological data were reviewed in patients with pathologically confirmed *** recurrence,metastasis,and disease-specific death were the main outcome *** and multivariate analyses were performed by the Kaplan-Meier method and a Cox proportional hazard ***:This retrospective cohort study included 45 patients with pathologically confirmed LGACC between January 2008 and june ***(T)classification(P=0.005),nodal metastasis(N)classification(P=0.018)and positive margin(P=0.008)were independent risk factors of recurrence;T(P=0.013)and N(P=0.003)classification and the basaloid tumor type(P=0.032)were independent risk factors for metastasis;T classification(Ps an independent factor of death of *** the further analysis,the durations from first surgery to radiotherapy is correlated with metastatic risk in LGACC patients with basaloid component(P=0.022).CONCLUsION:Histological subtype should be emphasized when evaluating prognosis and guiding *** radiotherapy may reduce the risk of metastasis in patients with basaloid component.

关键词： lacrimal gland adenoid cystic carcinoma risk factors prognostic analysis histological subtypes

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1420例颌面部创伤患者临床分析

上海口腔医学 2008年第6期17卷 574-577页

作者：史俊邱蔚六徐兵唐友盛上海交通大学医学院附属第九人民医院·口腔医学院口腔颌面外科上海市口腔医学研究所·上海市口腔医学重点实验室上海200011

目的:对1420例颌面创伤病例进行临床回顾分析。方法:对上海交通大学医学院附属第九人民医院2005-2006年间因颌面部创伤住院的1420例患者进行回顾分析,明确发病年龄、性别、致伤原因、骨折类型和伴发损伤。结果:1420例颌面创伤病例中,男... 详细信息

目的:对1420例颌面创伤病例进行临床回顾分析。方法:对上海交通大学医学院附属第九人民医院2005-2006年间因颌面部创伤住院的1420例患者进行回顾分析,明确发病年龄、性别、致伤原因、骨折类型和伴发损伤。结果:1420例颌面创伤病例中,男女比例为3.24:1;21～30岁(36.22%)为发病的高峰年龄段;道路交通伤(42.07%)在致伤原因中居首位;颧骨(41.83%)和下颌骨(29.50%)为骨折高发部位;发生创伤超过3周后才获得治疗的病例占43.6%。结论:道路交通伤在目前仍为主要的致伤原因,颧骨和下颌骨为最常见的创伤部位,有相当比例的病例因治疗不及时以及治疗不当造成牙颌面畸形,值得引起注意。

关键词：颌面部创伤回顾性研究