目的 分析Peutz-Jeghers綜合征臨床特點，以提高診治水平。 方法 2008年11月-2010年1月對8例Peutz-Jeghers綜合征的臨床資料進行回顧性分析。 結果 男女各4例，年齡13～41歲，病程20 d～40年。8例均有黑斑和息肉，5例有明確的家族史。首發表現以腹痛為主，輕度抑郁表現2例，并發腸套疊2例，結腸癌1例。病理報告：錯構瘤4例。外科手術治療1例，結腸鏡治療6例，保守治療1例。 結論 Peutz-Jeghers綜合征易并發抑郁癥、腸套疊和惡性腫瘤，患者需心理治療和遺傳咨詢，腸鏡下息肉切除是主要手段。
The results of 2389 patients exmained by colonofiverscope in past nine years are reported. Polyps were found in 561 cases, including 1256 polyps in the large intestine and 82 polyps in the terminal ileum. All 1299 polyps were removed with biopsy forceps. Pathology demonstrated that there were 406 adenomas, including 89 atypical hyperplasia and 23 cases with malignant change and 932 non-canerous polyps with 102 atypical hyperplasia. Since adenoma is seen to be a precancerous change, the polypectomy by colonofiberscope , ecpecially atypical hyperplastic polyps may decrease morbidity of large intestinal cancer. Cancer associated with adenoma may be as high as 51.28%, so the recrudescence of polyps may possibly be found even afer the cancer removal. These data showed that an early discovery of small malignant adenoma is key to improve efficiency.
【Abstract】ObjectiveTo review recent studies on Muir-Torre syndrome (MTS) and to improve the knowledge about MTS.MethodsThe literatures in recent years on clinic and gene research of MTS were reviewed.ResultsMTS was is a rare autosomal-dominant disorder characterized by the predisposition to both sebaceous tumors (or multiple keratoacanthomas) and internal malignancies. Gastrointestinal cancers were the most common kind of internal malignancies in MTS patients(61%)，followed by genitourinary cancers(22%). In most cases(56%)，sebaceous tumors appeared after the emergence of internal maliganancy. Both hereditary nonpolyposis colorectal cancer(HNPCC) and MTS were caused by germline mutations in the DNA mismatch repair genes. MTS patients exhibit significantly more mutations in the hMSH2 than in the hMLH1. In these cases , both internal and skin tumors showed the characteristic of high microsatellite instability(MSI).ConclusionThe presence of sebaceous tumors(or multiple keratoacanthomas) necessitates the search for internal malignancies. It is mandatory that patients with MTS, as patients with HNPCC, should be regularly followed up to search new malignancies. Evaluation and monitoring of the family members of patients are also necessary. The patients and their families should be counseled for genetic test. Sequencing the hMSH2 gene should be the prior selection of further examinations when clinical manifestations, history and laboratory tests suggest MTS.
目的 提高對幼年性息肉致小腸套疊的診治水平。方法 按檢索策略，檢索PubMed、中國生物醫學文獻數據庫（CBM）、中文科技期刊全文數據庫（CSJD）、中國期刊全文數據庫（CJFD）及CNKI數字圖書館的相關文獻，并結合筆者所在醫院于2011年收治的1例幼年性息肉致小腸套疊病例資料，對該病進行一系統的描述。結果 共檢出相關文獻65篇，按納入及排除標準，最后納入6篇文獻。共7例患者，臨床表現為腹痛、嘔吐5例，便血2例，貧血3例；經超聲檢查診斷4例；全組均行小腸切除腸吻合術，其中1例為腹腔鏡輔助手術；有1例患者共實施了3次手術，最后死于惡液質，其余患者恢復較好。結論 幼年性息肉致小腸套疊為臨床罕見疾病，超聲檢查仍為首選診斷方法；提高醫師對該病的認識，術中徹底探查腸道，必要時術中行快速冰凍切片病理學檢查，有望減少息肉遺留，改善患者的預后。
The expression of p21, p53, bcl-2 oncoprotein was evaluated using immunohistochemistry in 40 patients with gallbladder carcinoma and 8 patients with gallbladder adenomous polyp. In the study, the positive rate of expression of p21, p53 and bcl-2 oncoprotein was 52.5%, 52.5% and 70.0% respectively in gallbladder carcinoma, while, in gallbladder polyp, they were 0%, 0% and 100% respectively. The positive rate of expression of p53 oncoprotein was significantly higher in poor-differentiated adenocarcinomas than in well-differentiated ones (Ｐ＜0.05). The converse was true for bcl-2 oncoprotein. The positive rate of expression of p21 and p53 oncoprotein was significantly higher in metastatic group than in non-metastatic one. These results suggest that the patients with the expression of p21, p53 might be of poor-prognosis.
ObjectiveTo develop a simple and effective subretinal injection pipeline system to enhance the accuracy and precision of subretinal injection volume control. MethodsA retrospective case series study. From May to October 2023, 18 patients (18 eyes) with submacular hemorrhage (SMH) who continuously received modified subretinal injection treatment in Department of Ophthalmology of Peking Union Medical College Hospital were included in the study. Among them, there were 10 males and 8 females. The mean age was (60.00±7.41) years. The primary causes included polypoid choroidal vasculopathy (14 cases), retinal macroaneurysm (2 cases), traumatic retinopathy (1 case), and Valsalva retinopathy (1 case). Hemorrhage affected 14 eyes of the fovea centralis. All affected eyes underwent standard three-channel 25G vitrectomy via the flat part of the ciliary body combined with modified subretinal injection of recombinant tissue plasminogen activator. The improved injection system consisted of a 1 ml syringe, a Q-SyteTM connector, a 41G subretinal microinjection needle, a converter and a viscoelastic substance control pipeline. The drug preparation time for subretinal injection (i.e., the time consumed by the system connection step), the injection time, whether bubbles occur during the injection process, and the perioperative complications were recorded and analyzed. ResultsThe preparation time prior to drug injection ranged from 230 to 335 seconds, while the injection completion time varied between 43 and 75 seconds. Both times decreased progressively as operator proficiency improved. Among the treated eyes, five received a target injection dose of 0.05 ml and thirteen received 0.10 ml, with all eyes achieving the preset dose accurately. No subretinal bubbles were observed during the injection procedure. Additionally, no intraoperative complications such as retinal hemorrhage or tear secondary to mechanical trauma at the injection site were recorded. Postoperatively, one eye developed anterior chamber hemorrhage, which resolved following intraocular pressure-lowering treatment. No other postoperative complications, including hemorrhage, rhegmatogenous retinal detachment, or infection, were observed in the remaining eyes. ConclusionThe retinal drug injection system developed in this study has a simple structure, safe and stable operation, can achieve precise drug injection, and effectively avoid the formation of bubbles.
目的總結黑斑息肉綜合征的外科治療經驗。方法回顧性分析我院 1986～2002年期間收治的8例黑斑息肉綜合征患者的臨床資料。結果8例中行部分小腸切除（其余段小腸多處切開，切除息肉）5例； 胃大部切除術2例； 右半結腸切除術1例。本組1例腸套疊致腸壞死急診行腸切除，術后2年，因小腸息肉引起腸套疊致腸壞死，再次手術切除壞死腸段； 1例術后內鏡隨訪中發現直腸息肉，給予內鏡下電灼切除； 其余6例未見復發。結論黑斑息肉綜合征手術主要是針對胃腸道息肉的治療，解除臨床癥狀； 并注意把握手術時機，嚴格遵循手術適應證，并加強術后的隨訪。