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。     

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.     

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。     

Three familial cases of fundic gland polyposis without polyposis coli

We report three cases of fundic gland polyposis in the stomach identified in three patients who were related. Grossly the numerous polyps covered an area limited to the body and fundus of the stomach, no polyps were found in the antrum, duodenum, colon, or rectum, and histologically, the gastric lesions consisted of numerous hamartomatous polyps, characterized by proliferation of the fundic and cystic glands. The gastric lesions were identified in families without polyposis coli. This type of fundic gland polyposis has never been documented before in the literature.     

Cenani–Lenz syndrome and other related syndactyly disorders due to variants in LRP4, GREM1/FMN1, and APC: Insight into the pathogenesis and the relationship to polyposis through the WNT and BMP antagonistic pathways

Cenani–Lenz (C–L) syndrome is characterized by oligosyndactyly, metacarpal synostosis, phalangeal disorganization, and other variable facial and systemic features. Most cases are caused by homozygous and compound heterozygous missense and splice mutations of the LRP4 gene. Currently, the syndrome carries one OMIM number (212780). However, C–L syndrome‐like phenotypes as well as other syndactyly disorders with or without metacarpal synostosis/phalangeal disorganization are also known to be associated with specific LRP4 mutations, adenomatous polyposis coli (APC) truncating mutations, genomic rearrangements of the GREM1‐FMN1 locus, as well as FMN1 mutations. Surprisingly, patients with C–L syndrome‐like phenotype caused by APC truncating mutations have no polyposis despite the increased levels of β catenin. The LRP4 and APC proteins act on the WNT (wingless‐type integration site family) canonical pathway, whereas the GREM‐1 and FMN1 proteins act on the bone morphogenetic protein (BMP) pathway. In this review, we discuss the different mutations associated with C–L syndrome, classify its clinical features, review familial adenomatous polyposis caused by truncating APC mutations and compare these mutations to the splicing APC mutation associated with syndactyly, and finally, explore the pathophysiology through a review of the cross talks between the WNT canonical and the BMP antagonistic pathways.     

Simple,rapid, and accurate determination of deletion mutations by automated dna sequencing of heteroduplex fragments of the adenomatous polyposis coli (APC) gene generated by PCR amplification

Germline mutations in patients with familial adenomatous polyposis were analyzed by polymerase chain reaction (PCR) amplification of the adenomatous polyposis coli gene. PCR products from heterozygous patients for deletions of this gene formed four distinct bands on polyacrylamide gel electrophoresis. The four fragments were subsequently purified and both strands of each fragment were directly sequenced, using an automated DNA sequencer and the same primers as those for PCR amplification. It was found that the two slower migrating fragments were “bulge” heteroduplexes, while the other two were homoduplexes made up of two wild-type strands and two deletion-mutant strands, respectively. The sites of deletions in the adenomatous polyposis coli gene could be exactly determined in four of the five patients. In an attempt to identify deletion-carriers of familial adenomatous polyposis at the presymptomatic stage, a family study was also carried out, and two children were found to have the same mutations as those of their affected parents. The direct sequencing of heteroduplex fragments generated during PCR amplification is a potentially useful method for detecting mutations of not only the adenomatous polyposis coli gene but also many other genes of genetic diseases. © 1993 Wiley-Liss, Inc.     

Electron microscopic studies of endocrine hyperplasia in duodenal adenomas in familial adenomatous polyposis

Summary Electron microscopical studies on endocrine cell hyperplasia of duodenal adenomas from five patients with familial adenomatous polyposis were performed. All the endocrine cell types normally found in the duodenal mucosa were identified. A constant feature was proliferation of duodenal-enterochromaffin cells but an increase in the number of all other endocrine cell types apart from pyloricgastrin cells and somatostatin cells, was also observed. Certain types of intestinal endocrine cells (the intestinal enterochromaffin cell and the glicentin cell) are rare cells in the normal duodenal mucosa. The finding of these cells may indicate increased biological aggressivity.     

Predictive genetic testing in children and adults: a study of emotional impact

AIM—To determine whether, following predictive genetic testing for familial adenomatous polyposis (FAP), children or adults receiving positive results experience clinically significant levels of anxiety or depression, and whether children receiving positive results experience higher levels of anxiety or depression than adults receiving positive results.
DESIGN—Two studies, one cross sectional and one prospective.
SAMPLE—208 unaffected subjects (148 adults and 60 children) at risk for FAP who have undergone genetic testing since 1990.
MAIN MEASURES—Dependent variables: anxiety, depression; independent variables: test results, demographic measures, psychological resources (optimism, self-esteem).
RESULTS—Study 1. In children receiving positive results, mean scores for anxiety and depression were within the normal range. There was a trend for children receiving positive results to be more anxious and depressed than those receiving negative results. In adults, mean scores for anxiety were within the normal range for those receiving negative results, but were in the clinical range for those receiving positive results, with 43% (95% CI 23-65) of the latter having scores in this range. Regardless of test result, adults were more likely to be clinically anxious if they were low in optimism or self-esteem. Children receiving positive or negative results did not experience greater anxiety or depression than adults. Study 2. For children receiving a positive test result, mean scores for anxiety, depression, and self-esteem were unchanged over the year following the result, while mean anxiety scores decreased and self-esteem increased after receipt of a negative test result over the same period of time.
CONCLUSION—Children, as a group, did not show clinically significant distress over the first year following predictive genetic testing. Adults were more likely to be clinically anxious if they received a positive result or were low in optimism or self-esteem, with interacting effects. The association between anxiety, self-esteem, and optimism suggests that counselling should be targeted, not only at those with positive test results, but also at those low in psychological resources.


Keywords: genetic testing; children; familial adenomatous polyposis; emotional impact