Objective: To explore the relationship between the insulin resistance and thedefects or mutations or mutations in insulin receptor (InsR)gene. Methods: Using the single-strandconformation polymorphism(SSCP), mutations...Objective: To explore the relationship between the insulin resistance and thedefects or mutations or mutations in insulin receptor (InsR)gene. Methods: Using the single-strandconformation polymorphism(SSCP), mutations and polymorphisms were detected in nine patients withacan-thosis nigricans (AN) and their first degree relatives in exon 17 and 20 of InsR gene. Thepolymorphisms and mutations were confirmed by DNA direct sequencing. Results: Fourteen variant SSCPpat-terns were detected. Direct sequencing revealed seven point mutations and six silentpolymorphisms. Five of the mutations appeared not to be mentioned in the previous literature. Thesemutations were all located within the domain of tyrokinase in InsR. Conclusion: It seem to us thatalmost all the AN patients with severe insulin resistance in this study have mutations in InsRtyrokinase domain.展开更多
Deposition of pigment in the intestinal mucosa is commonly observed by the endoscopist, especially within the colon, and particularly during investigations for constipation. Pigment may also be detected in the small i...Deposition of pigment in the intestinal mucosa is commonly observed by the endoscopist, especially within the colon, and particularly during investigations for constipation. Pigment may also be detected in the small intestine. Although labeled as melanosis, electron microscopy and X-ray analytical methods have provided evidence that this pigment is not melanin at all, but lipofuscin. Often, herbal remedies or anthracene containing laxatives are often historically implicated, and experimental studies in both humans and animal models have also confirmed the intimate relationship with these pharmacological or pseudo-pharmacological remedies. The appearance of melanosis coli during colonoscopy is largely due to pigment granule deposition in macrophages located in the colonic mucosa. The pigment intensity is not uniform, being more intense in the cecum and proximal colon compared to the distal colon. Possibly, this reflects higher luminal concentrations of an offending agent in the proximal compared to distal colon, differential absorption along the length of the colon, or finally, differences in macrophage distribution within the colon. Mucosal lymphoid aggregates normally display a distinct absence of pigment producing a "starry sky" appearance, especially in the rectosigmoid region. Interestingly, some focal, usually sessile, colonic mucosal neoplastic lesions, rather than submucosal lesions, may be better appreciated as pigment deposition may be absent or limited. If detected, removal and further histopathologic analysis of the polyp may be facilitated.展开更多
OBJECTIVE To investigate the clinical characteristics of melanosis of the colon （MC） and its correlation with polypus and carcinoma of the large intestine. METHODS Clinical feature and colonoscopic findings of 156 M...OBJECTIVE To investigate the clinical characteristics of melanosis of the colon （MC） and its correlation with polypus and carcinoma of the large intestine. METHODS Clinical feature and colonoscopic findings of 156 MC patients were retrospectively analyzed. Final diagnosis of MC case was made after colonoscopic and pathological examination, and data of the case history was recorded. RESULTS The overall detection rate of MC was 1.12%, with 0.46% in males, 0.66% in females. An 82.69% of the patients suffered various constipations and had a history of taking cathartics. The clinical manifestation of total-colon melanosis occurred in 83.97% of the patients. There was no significant difference between the rate of concomitant polypus （27.56%） in the MC patients and the detection rate of polypus in the patients who underwent a synchronous colonoscopy （χ^2 = 1.205, P = 0.298）. Also there was no significant difference between the detection rate of carcinoma of the large intestine （8.97%） in MC patients and the detection rate of the same disease in the patients who underwent synchronous colonoscopy （χ^2 = 0.268, P = 0.604）. A logistic regression analysis has shown that the older the age of MC patients is, the more opportunities of MC and the concomitant polypus would occur. CONCLUSION MC may be related to constipations and a long-term administration of cathartics, among which total-colon melanosis ranks first in the cases. There is an earlier age of onset in the females, with a higher detection rate. The older the age of the patients is, the higher the detection rate of MC is, and the more possibility the onset of the concomitant polypus.展开更多
文摘Objective: To explore the relationship between the insulin resistance and thedefects or mutations or mutations in insulin receptor (InsR)gene. Methods: Using the single-strandconformation polymorphism(SSCP), mutations and polymorphisms were detected in nine patients withacan-thosis nigricans (AN) and their first degree relatives in exon 17 and 20 of InsR gene. Thepolymorphisms and mutations were confirmed by DNA direct sequencing. Results: Fourteen variant SSCPpat-terns were detected. Direct sequencing revealed seven point mutations and six silentpolymorphisms. Five of the mutations appeared not to be mentioned in the previous literature. Thesemutations were all located within the domain of tyrokinase in InsR. Conclusion: It seem to us thatalmost all the AN patients with severe insulin resistance in this study have mutations in InsRtyrokinase domain.
文摘Deposition of pigment in the intestinal mucosa is commonly observed by the endoscopist, especially within the colon, and particularly during investigations for constipation. Pigment may also be detected in the small intestine. Although labeled as melanosis, electron microscopy and X-ray analytical methods have provided evidence that this pigment is not melanin at all, but lipofuscin. Often, herbal remedies or anthracene containing laxatives are often historically implicated, and experimental studies in both humans and animal models have also confirmed the intimate relationship with these pharmacological or pseudo-pharmacological remedies. The appearance of melanosis coli during colonoscopy is largely due to pigment granule deposition in macrophages located in the colonic mucosa. The pigment intensity is not uniform, being more intense in the cecum and proximal colon compared to the distal colon. Possibly, this reflects higher luminal concentrations of an offending agent in the proximal compared to distal colon, differential absorption along the length of the colon, or finally, differences in macrophage distribution within the colon. Mucosal lymphoid aggregates normally display a distinct absence of pigment producing a "starry sky" appearance, especially in the rectosigmoid region. Interestingly, some focal, usually sessile, colonic mucosal neoplastic lesions, rather than submucosal lesions, may be better appreciated as pigment deposition may be absent or limited. If detected, removal and further histopathologic analysis of the polyp may be facilitated.
文摘OBJECTIVE To investigate the clinical characteristics of melanosis of the colon （MC） and its correlation with polypus and carcinoma of the large intestine. METHODS Clinical feature and colonoscopic findings of 156 MC patients were retrospectively analyzed. Final diagnosis of MC case was made after colonoscopic and pathological examination, and data of the case history was recorded. RESULTS The overall detection rate of MC was 1.12%, with 0.46% in males, 0.66% in females. An 82.69% of the patients suffered various constipations and had a history of taking cathartics. The clinical manifestation of total-colon melanosis occurred in 83.97% of the patients. There was no significant difference between the rate of concomitant polypus （27.56%） in the MC patients and the detection rate of polypus in the patients who underwent a synchronous colonoscopy （χ^2 = 1.205, P = 0.298）. Also there was no significant difference between the detection rate of carcinoma of the large intestine （8.97%） in MC patients and the detection rate of the same disease in the patients who underwent synchronous colonoscopy （χ^2 = 0.268, P = 0.604）. A logistic regression analysis has shown that the older the age of MC patients is, the more opportunities of MC and the concomitant polypus would occur. CONCLUSION MC may be related to constipations and a long-term administration of cathartics, among which total-colon melanosis ranks first in the cases. There is an earlier age of onset in the females, with a higher detection rate. The older the age of the patients is, the higher the detection rate of MC is, and the more possibility the onset of the concomitant polypus.
