白花蛇舌草干预湿热瘀滞型肠内多发息肉术后复发的临床研究

目的 临床观察白花蛇舌草干预湿热瘀滞型肠内多发息肉患者内镜治疗术后复发情况。方法 采用前瞻性的随机空白对照试验设计，选取2019年9月1日—2020年12月31日上海中医药大学附属普陀医院消化科收治的门诊及住院结直肠多发息肉患者132例作为研究对象。采用随机方法分为对照组和试验组，每组66例。对照组行内镜治疗术给予常规治疗后无药物干预，试验组在对照基础上给予白花蛇舌草汤剂（每日取白花蛇舌草15 g、大枣3枚，煎取400 mL汤剂，分2次饭后温服）治疗，连续干预1年。观察并比较两组术前与术后1年肠道内息肉的复发率、息肉数目、息肉最大直径、中医证候评分及肝肾功能及血常规的差异。结果 干预1年后，试验组复发9例（14.75%），对照组复发21例（33.33%），两组息肉复发率比较，差异有统计学意义（P＜0.05）。试验组腺瘤、伴重度异型增生、体质量指数（BMI）≥24 kg·m^-2患者治疗后息肉复发率均较对照组同类型降低，差异显著（P＜0.05）；术后1年试验组息肉最大直径及息肉数目均较对照组显著减小，差异显著（P＜0.05）；术后1年试验组中医证候各项评分均显著低于对照组（P＜0.05）；术后1年，两组中医证候疗效比较，差异具有统计学意义（P＜0.05），且术前、术后1年两组患者肝肾功能、凝血功能等安全性指标无显著差异。结论 应用白花蛇舌草干预结直肠息肉术后患者，1年后明显降低肠内息肉的复发率，尤以腺瘤性息肉、重度异型增生、BMI超重患者更显著，不仅改善临床症状，还能有效预防结直肠息肉的复发，改善患者的预后。     

Genetic syndromes predisposing to paediatric brain tumours: the chicken or the egg?

Cancer in childhood is a disorder of growth and development. Up to 10% of patients diagnosed with cancer during childhood have a known underlying genetic predisposition syndrome. Affected individuals usually have multisystem involvement from the underlying syndrome and certain syndromes are associated with development of characteristic tumours with sites of predilection within the neuraxis. For the healthcare professionals involved with paediatric patients it is important to have basic knowledge of the cancer susceptibility syndromes. A holistic multidisciplinary approach is required for the overall management of the syndrome itself with specific recommendations for imaging surveillance and genetic counselling based on the pattern of inheritance and the relative risk of developing a tumour. Appropriate knowledge of these syndromes will help paediatricians manage and refer patients at risk to specialist neuro-oncology centres. A typical brain tumour diagnosis can also indicate certain underlying genetic disorders and examples of such tumours include optic pathway glioma, choroid plexus carcinoma and subependymal giant cell astrocytoma. A detailed family history can be helpful in identifying at risk patients and families as the typical clinical signs associated with the genetic condition are often not fully apparent in young children. This article focuses on well-known genetic diagnoses associated with or predisposing to childhood brain tumours. In some instances, the brain tumour diagnosis subsequently leads to the diagnosis of an underlying genetic syndrome.     

三环形回肠贮袋-肛管吻合术在全结肠切除术中的应用

目的探讨全结肠切除后三环形回肠贮袋-肛管吻合加选择性截流术的价值。方法1994年9月至2004年9月对18例全结肠切除患者应用三环形回肠贮袋加选择性截流术,其中家族性大肠腺瘤性息肉病14例,溃疡性结肠炎4例。结果18例获12月～5年随访,无手术死亡。术后发生并发症3例(16.7%),贮袋阴道瘘、早期炎性肠梗阻、切口感染各1例,均治愈。术后平均排便频率:术后2周内4.9次/d,1个月3.8次/d,6个月3.1次/d,1年1.8次/d。至6个月时都能控制干便,其中控制正常者15例(83.3%),控制欠佳者3例(16.7%),无大便失禁。但稀便控制能力较差,至1年时仍有1例(5.6%)患者稀便失禁。无一例须插管排空。结论全结肠切除后三环形回肠贮袋肛管吻合加选择性截流术操作简单,手术并发症少,术后排便功能好,是家族性大肠腺瘤性息肉病和严重溃疡性结肠炎全结肠切除后较为合适的消化道重建方式。     

家族性颅骨锁骨发育不全的影像学表现(附6例分析)

目的探讨家族性锁骨颅骨发育不全的X线及CT表现特征。方法分析6例(2个家庭)锁骨颅骨发育不全的临床、X线及CT表现,并从遗传学角度进行探讨。结果家族性锁骨颅骨发育不全的X线及CT表现主要为颅顶膨隆或下陷、囟门未闭、颅缝增宽、多发缝间骨、颅底相对较窄,蝶骨短、蝶窦小,颅底骨明显增厚,并呈棉花团状改变,边缘模糊、牙齿发育不良、锁骨发育不全或缺如、全身骨骼发育不全。结论家族性锁骨颅骨发育不全的X线及CT表现具有特征性,能够作出正确的诊断。     

Ocular findings in familial adenomatous polyposis

Background: Retinal pigment epithelium (RPE)lesions are predictive congenital phenotypic markersfor familial adenomatous polyposis (FAP). Thisprospective screening study aims at assessing theincidence and significance of these lesions in FAPpatients and their family members.Methods: Sixty-two members from three familiesincluding five patients with the diagnosis of FAP havebeen ophthalmologically surveyed. All RPE lesions weredocumented with fundus photography and fluoresceinangiography was performed in 13 subjects.Sigmoidoscopy and/or radiological examination wereperformed annually in 9 family members with typicalRPE lesions during 4 years to allow early diagnosis ofFAP.Results: Typical RPE lesions were present infive FAP patients and 15 family members.Telangiectatic dilatations in the retinal peripherywith small dot-like hemorrhages were detected in 6subjects from 3 families These lesions wereparticularly evident on fluorescein angiography.Annual colon analysis showed polyps in 3 out of 9subjects who were positive for RPE lesions.Conclusion: RPE lesions are valuable as aclinical marker in predicting FAP. The co-existingperipheral vascular alterations which have not beenreported before, are probably related to FAP.     

A case of Creutzfeldt-Jakob disease related to familial retinitis pigmentosa patients

Similarities between serological alterations and retinal degeneration occurring in natural and experimental CJD and in some forms of human retinal degeneration have recently been reported. In the present paper a family from an areal focal accumulation of CJD in Central Slovakia with 1 histopathologically verified case of Creutzfeldt-Jakob disease and 2 case of retinitis pigmentosa is described. Neuropathological and epidemiological data obtained in investigated patients are discussed from the point of view of a possible relationship between the slow virus infections caused by unconventional agents and degenerative disease affecting the ocular system.     

改良内侧上颌骨切除术治疗21例鼻息肉病

目的:探讨鼻息肉病的可行性手术方法,以提高治疗效果。方法:21例鼻息肉病患者一侧行唇龈沟径路,保留下鼻甲的改良内侧上颌骨切除术(modifiedmedialmaxillectomy,MMM);另侧行单纯鼻息肉摘除和鼻内筛窦切除术,并作为对照组。结果:术后随访12～34个月,平均20个月;改良内侧上颌骨切除术侧未见复发,另侧复发6例,两组复发率差异有显著性(P<0.05)。结论:改良内侧上颌骨切除术使鼻息肉病患者术后复发率显著降低,治疗效果显著,是一种可供选择的有效的治疗手段。     

The impact of new screening protocol on individuals at increased risk of colorectal cancer

OBJECTIVE: Screening colonoscopy has been shown to reduce mortality and cancer stage in hereditary nonpolyposis colorectal cancer (HNPCC) individuals. However, the benefit of screening in intermediate risk groups is unknown. The most recent national guidelines have recommended a reduction of screening frequency for the intermediate risk group. Therefore, this study aims to compare the results of colonoscopic screening in HNPCC and intermediate risk groups and assess the effect of the most recent screening protocol recommendations. METHOD: A total of 244 individuals; 108 from HNPCC families (28 mismatch repair gene carriers) and 136 from intermediate risk families were referred for regular colonoscopic screening by the Regional Genetics Service. Findings from 417 colonoscopies performed between 1992 and 2003 were evaluated. RESULTS: A total of three cancers, 39 adenomas and 41 hyperplastic polyps were found in the HNPCC group compared with one cancer, 22 adenomas and 19 hyperplasic polyps in the intermediate risk group. If the recent screening guidelines for the intermediate group were applied, then 89 (44%) fewer colonoscopies would have been performed. Although no cancers would have been missed, six adenomas (mean size = 5.7 mm, range 2-10 mm) with two graded as severely dysplasic and six hyperplastic polyps would not have been detected. CONCLUSION: The detection rate and distribution of adenomas were similar in both groups. If the new colonoscopic screening recommendations for the intermediate risk group had been applied, a small number of significant lesions would have been missed.