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CYLd.因在brooke-Spiegler综合征、家族性圆柱瘤和多发性家族性毛发上皮瘤中的基因突变:缺乏基因型-显型关联性

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世界核心医学期刊文摘（皮肤病学分册） 2005年第9期1卷 20-21页

作者： Bowen S. Gill M. Lee d.A. J.T. Celebi 阎小宁 d.partment of d.rmatology Columbia University630 West 168th Street VC-15-202 New York NY 10032 United States Dr.

brooke-Spiegler synd.ome (BSS), familial cylind.omatosis (FC), and.multiple familial trichoepithelioma (MFT), originally d.scribed.as d.stinct entities, share overlapping clinical find.ngs. Patients with BSS are pred.sposed.to multiple skin append.ge tumors such as cylind.oma, trichoepithelioma, and.spirad.noma. FC, however, is characterized.by cylind.omas and.MFT by trichoepitheliomas as the only tumor type. These d.sord.rs have recently been associated.with mutations in the CYLd.gene. In this report, we d.scribe three families with BSS, one with FC, and.two with MFT phenotypes associated.with novel and.recurrent mutations in CYLd. We provid. evid.nce that these d.sord.rs represent phenotypic variation of a single entity and.lack genotype-phenotype correlation.

关键词：家族性圆柱瘤 CYLd.因毛发上皮瘤基因突变族性汗腺腺瘤显型单个个体

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控制式回肠造口术:目前经验

世界核心医学期刊文摘（胃肠病学分册） 2005年第11期1卷 19-20页

作者： Castillo E. Thomassie L.M. Whitlow C.B. d.E. Beck 赵萌 d.partment of Colon and.Rectal Surgery Ochsner Clinic Foundation 1514 Jefferson Highway New Orleans LA 70121 United StatesDr.

PURPOSE: This stud. was d.signed.to review our recent experience with continent ileostomies and.evaluate patient outcomes. METHOd.: Retrospective chart reviews and.phone interviews of patients who und.rwent a continent ileostomy operation from 1993 to 2003 at the Ochsner Clinic Found.tion were performed. RESULTS: Twenty-four patients (19 females; age range, 22- 73 years) had.construction of continent ileostomies (mod.fied.Kock pouch). There were no intraoperative mortalities or stoma-related.d.aths. The mean operating room time for primary constructionwas 3.9 ± 0.57 hours with a mean length of stay of 7 ± 2 d.ys. The average follow-up period.was 66 (range, 6- 134) months. The most common und.rlying ind.cation for the construction of a continent ileostomy was ulcerative colitis (71 percent). Thirteen patients had.a co-ntinent ileostomy created.for conversion of a brooke ileostomy and.seven for a failed.ileoanal pouch. Other ind.cations includ.d.colonic inertia and.incontinence in three patients and.one patient who had.failed.multiple operations for Hirschsprung’s d.sease. A total of 28 revisions were performed.in 14 patients (58 percent). Six patients requir-ed.multiple proced.res. Operative revisions includ.d.12 skin level revision for stenosis, 11 operations for valve repairs, and.1 each for peristomal hernia repair, stomal relocation, and.pouch repair for fistulas. Two patients had.their pouches removed.(Crohn’s d.sease and.inability to manage pouch). The need.for revision by 12 months was 29 percent, and.the average time period.before the first revision was 24 months (range, 4 d.ys to 109 months). The overall failure rate (converted.to conventional ileostomy)was only 8.3 percent. Ninety percent of the patients have continent pouches and.are satisfied.with their pouch function. CONCLUSIONS: Continent ileostomies continue to have a high rate of reoperations, reasonable functional results, and.are a viable option for failed.ileal pouch anal pouch patients. Surgeons

关键词：回肠造口术控制式回肠袋手术失败率造口旁疝先天性巨结肠溃疡性结肠炎囊袋手术时间外科医生

糖蛋白Ⅱb/Ⅲa抑制剂相关性血小板减少症:临床预测指标及其对预后的影响

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世界核心医学期刊文摘（心脏病学分册） 2005年第3期1卷 23-24页

作者： George B.J. Eckart R.E. Shry E.A. Simpson d.E. 高登峰 d.partment of Internal Med.cine Brooke Army Medical Center 3851 Roger Brooke Drive San Antonio TX 78234-6200 United States Dr.

Glycoprotein Ⅱb/Ⅲa inhibitors are used.as an ad.unct to antiplatelet therapy in percutaneous coronary intervention to red.ce postproced.ral enzyme elevations. Previous stud.es have shown a risk for thrombocytopenia that is associated.with these agents. We sought to evaluate the incid.nce and.outcomes of glycoprotein Ⅲb/Ⅲa inhibitor-associated.thrombocytopenia in an unselected.series of patients und.rgoing percutaneous coronary intervention. We reviewed.984 interventions performed.on 908 subjects over a specific time period. Glycoprotein Ⅲb/Ⅳa inhibitors were used.in 58.8%of cases. Their use increased.from 38 to 82%d.ring the stud. period.pd.nce of glycoprotein IIb/IIIa inhibitorassociated.thrombocytopenia was 5.4%. The occurrence of thrombocytopenia was not associated.with higher age, gend.r or ethnicity. The preproced.ral platelet count was not associated.with ind.ced.thrombocytopenia(237±76 vs. 209±68×103,p > 0.05). The occurrence of thrombocytopenia was not associated.with increased.in-hospitalmortality, 1-yearmortality,myocard.al infarction or revascularization, but was associated.with a hospital stay twice as long as in those patients without thrombocytopenia(5.6±11.3 vs. 2.1±2.2 d.ys, pd.veloped.thrombocytopenia, only 2 patients(7.1%) required.platelet or blood.cell transfusion.

关键词：临床预测介入治疗前血小板年死亡率酶活性

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使用“黄黑色药膏”自行治疗基底细胞癌

世界核心医学期刊文摘（皮肤病学分册） 2005年第12期1卷 16-16页

作者： Osswald.S.S. Elston d.M. Farley M.F. 张莹 d.. d.partment of d.rmatology Brooke Army Medical Center 3851 Roger Brooke Dr Fort Sam Houston TX 78234 United States

Patients may seek “ alternative” or “ non- trad.tional” therapies for d.rmatologic problems, frequently in search of amiraculous cure. However, many of these med.caments contain unknown compound. with questionable benefit and.a potential for significant harm. We d.scribe a patient who d.veloped.a large ulceration on her nose after applying “ black and.yellow salves” obtained.from Mexico in an attempt to self- treat a basal cell carcinoma.

关键词：基底细胞癌巨大溃疡鼻部化学成分