Background Xanthogranulomatous cholecystitis （XGC） is a rare type of gallbladder inflammation.Unlike other cholecystitis,it can be easily misdiagnosed as gallbladder cancer based on radiological images.In response t...Background Xanthogranulomatous cholecystitis （XGC） is a rare type of gallbladder inflammation.Unlike other cholecystitis,it can be easily misdiagnosed as gallbladder cancer based on radiological images.In response to misdiagnosis,extended surgical treatments are inappropriately given to patients,which is not beneficial to their health and/or recovery.In this study,we set out to determine whether tumor biomarkers can help to avoid misdiagnosis in patients with XGC.Methods Between January 2005 and January 2012,a total of 37 preoperative patients at Sir Run Run Shaw Hospital were suspicious of having gallbladder cancer and was pathologically confirmed to be XGC after surgical operations.Before operations,all patients received a tumor biomarker test to verify diagnosis,which included serum CA 19-9,carcinoembryonic antigen （CEA）,and CA 12-5.Results A measured amount （54.05％） of cases （20 in 37） had at least one elevation over the thresholds of CA 19-9 （37 IU/L）,CEA （5 ng/ml）,and CA 12-5 （35 IU/L）,which increased the suspicion of malignancy and consequently enhanced the difficulty to make right diagnosis of XGC as benign.45.95％ of cases （17 in 37） had an elevation in CA 19-9.2.70％of cases （one in 37） had an elevation in CEA and 24.32％ of cases （nine in 37） had an elevation in CA 12-5.Analysis with Fisher＇s exact test discovered that the presence of common bile duct stone was a contributor to elevations of CA19-9 in patients with XGC.However,even in cases without common bile duct stones,42.86％ of patients （nine in 21） had elevations of at least one tumor biomarker.Among them,26.09％ of patients （six in 21） had elevations of CA 19-9,with the maximum of 536.29 IU/L.Conclusions The elevations of tumor biomarkers in XGC were frequent,suggesting their inabilities to clarify the disease＇s nature,especially when there was a suspicion of gallbladder cancer.Intraoperative frozen pathology of gallbladder might be a possible solution.However,it is against the en bloc s展开更多
AIM： To investigate the relationship among gastric xanthomatosis （GX）, Hpylori, dyslipidemia, and gastritis in Korea, a well-known Hpylori endemic area.METHODS： A total of 771 patients who had undergone gastroduod...AIM： To investigate the relationship among gastric xanthomatosis （GX）, Hpylori, dyslipidemia, and gastritis in Korea, a well-known Hpylori endemic area.METHODS： A total of 771 patients who had undergone gastroduodenoscopy by one endoscopist were included in this study. Among them, 54 patients with GX were assessed for Hpylori infection and their endoscopic characteristics and serum lipid profiles. The findings were compared with 54 age- and sex-matched control subjects without GX.RESULTS： The prevalence of GX was 7% （54/771） with no sex difference. GX was mainly single （64.8%） and located in the antrum （53.7%）. The mean diameter was 7 ± 3 mm. Mean body mass index （BMI） of patients with GX was 23.1 ± 2.8 and no one was above 30. Compared with the controls, lipid profiles of GX group showed significantly lower HDL-cholesterol （48.8 ± 12.3 vs 62.9 ± 40.5, P = 0.028） and higher LDL-cholesterol （112.9 ± 29.9 vs 95.9 ± 22.4, P = 0.032）. The level of total serum cholesterol, triglyceride and the existence of dyslipoproteinemia were not related to the presence of GX. However, GX showed a close relationship with endoscopically determined atrophic gastritis and histologic severity （24/53, 44.4% vs 8/54, 14.8%, P = 0.0082）. H pylori infection and bile reflux gastritis were not significantly related with GX.CONCLUSION： The prevalence of GX is 7% and it may be an increasing entity in Korea. Moreover, dyslipidemia and atrophic gastritis are found to be related to GX, but lip, H pylori infection is not.展开更多
BACKGROUND Cerebrotendinous xanthomatosis(CTX)is a rare autosomal recessive lipid-storage disorder caused by mutations in CYP27A1.Psychiatric manifestations in CTX are rare and nonspecific,and they often lead to consi...BACKGROUND Cerebrotendinous xanthomatosis(CTX)is a rare autosomal recessive lipid-storage disorder caused by mutations in CYP27A1.Psychiatric manifestations in CTX are rare and nonspecific,and they often lead to considerable diagnostic and treatment delay.CASE SUMMARY A 33-year-old female patient admitted to the psychiatric ward for presentation of delusions,hallucinations,and behavioral disturbance is reported.The patient presented with cholestasis,cataract,Achilles tendon xanthoma,and cerebellar signs in adulthood and with intellectual disability and learning difficulties in childhood.After the characteristic CTX findings on imaging were obtained,a pathological examination of the Achilles tendon xanthoma was refined.Replacement therapy was then initiated after the diagnosis was clarified by genetic analysis.During hospitalization in the psychiatric ward,the nonspecific psychiatric manifestations of the patient posed difficulty in diagnosis.After the patient’s history of CTX was identified,the patient was diagnosed with organic schizophrenia-like disorder,and psychotic symptoms were controlled by replacement therapy combined with antipsychotic medication.CONCLUSION Psychiatrists should be aware of CTX,its psychiatric manifestations,and clinical features and avoid misdiagnosis of CTX for timely intervention.展开更多
CXT is a rare inherited autosomal recessive lipid storage disease due to the impaired metabolic pathway of cholesterol secondary to a deficiency in 27- sterol hydroxylase, an enzyme in the synthesis of chenodeoxycholi...CXT is a rare inherited autosomal recessive lipid storage disease due to the impaired metabolic pathway of cholesterol secondary to a deficiency in 27- sterol hydroxylase, an enzyme in the synthesis of chenodeoxycholic acid (CDCA), a primary bile acid. Abnormal bile acid synthesis leads to elevated plasma Cholestanol (a derivative of cholesterol) accumulation, especially in the lens, central nervous system (CNS) and tendons.展开更多
文摘Background Xanthogranulomatous cholecystitis （XGC） is a rare type of gallbladder inflammation.Unlike other cholecystitis,it can be easily misdiagnosed as gallbladder cancer based on radiological images.In response to misdiagnosis,extended surgical treatments are inappropriately given to patients,which is not beneficial to their health and/or recovery.In this study,we set out to determine whether tumor biomarkers can help to avoid misdiagnosis in patients with XGC.Methods Between January 2005 and January 2012,a total of 37 preoperative patients at Sir Run Run Shaw Hospital were suspicious of having gallbladder cancer and was pathologically confirmed to be XGC after surgical operations.Before operations,all patients received a tumor biomarker test to verify diagnosis,which included serum CA 19-9,carcinoembryonic antigen （CEA）,and CA 12-5.Results A measured amount （54.05％） of cases （20 in 37） had at least one elevation over the thresholds of CA 19-9 （37 IU/L）,CEA （5 ng/ml）,and CA 12-5 （35 IU/L）,which increased the suspicion of malignancy and consequently enhanced the difficulty to make right diagnosis of XGC as benign.45.95％ of cases （17 in 37） had an elevation in CA 19-9.2.70％of cases （one in 37） had an elevation in CEA and 24.32％ of cases （nine in 37） had an elevation in CA 12-5.Analysis with Fisher＇s exact test discovered that the presence of common bile duct stone was a contributor to elevations of CA19-9 in patients with XGC.However,even in cases without common bile duct stones,42.86％ of patients （nine in 21） had elevations of at least one tumor biomarker.Among them,26.09％ of patients （six in 21） had elevations of CA 19-9,with the maximum of 536.29 IU/L.Conclusions The elevations of tumor biomarkers in XGC were frequent,suggesting their inabilities to clarify the disease＇s nature,especially when there was a suspicion of gallbladder cancer.Intraoperative frozen pathology of gallbladder might be a possible solution.However,it is against the en bloc s
文摘AIM： To investigate the relationship among gastric xanthomatosis （GX）, Hpylori, dyslipidemia, and gastritis in Korea, a well-known Hpylori endemic area.METHODS： A total of 771 patients who had undergone gastroduodenoscopy by one endoscopist were included in this study. Among them, 54 patients with GX were assessed for Hpylori infection and their endoscopic characteristics and serum lipid profiles. The findings were compared with 54 age- and sex-matched control subjects without GX.RESULTS： The prevalence of GX was 7% （54/771） with no sex difference. GX was mainly single （64.8%） and located in the antrum （53.7%）. The mean diameter was 7 ± 3 mm. Mean body mass index （BMI） of patients with GX was 23.1 ± 2.8 and no one was above 30. Compared with the controls, lipid profiles of GX group showed significantly lower HDL-cholesterol （48.8 ± 12.3 vs 62.9 ± 40.5, P = 0.028） and higher LDL-cholesterol （112.9 ± 29.9 vs 95.9 ± 22.4, P = 0.032）. The level of total serum cholesterol, triglyceride and the existence of dyslipoproteinemia were not related to the presence of GX. However, GX showed a close relationship with endoscopically determined atrophic gastritis and histologic severity （24/53, 44.4% vs 8/54, 14.8%, P = 0.0082）. H pylori infection and bile reflux gastritis were not significantly related with GX.CONCLUSION： The prevalence of GX is 7% and it may be an increasing entity in Korea. Moreover, dyslipidemia and atrophic gastritis are found to be related to GX, but lip, H pylori infection is not.
基金National Natural Science Foundation of China,No.82172061the Key Research and Development Plan in Jiangsu,No.BE2022677and the 16th Batch of Six Talent Peak Projects in Jiangsu,No.WSN-166.
文摘BACKGROUND Cerebrotendinous xanthomatosis(CTX)is a rare autosomal recessive lipid-storage disorder caused by mutations in CYP27A1.Psychiatric manifestations in CTX are rare and nonspecific,and they often lead to considerable diagnostic and treatment delay.CASE SUMMARY A 33-year-old female patient admitted to the psychiatric ward for presentation of delusions,hallucinations,and behavioral disturbance is reported.The patient presented with cholestasis,cataract,Achilles tendon xanthoma,and cerebellar signs in adulthood and with intellectual disability and learning difficulties in childhood.After the characteristic CTX findings on imaging were obtained,a pathological examination of the Achilles tendon xanthoma was refined.Replacement therapy was then initiated after the diagnosis was clarified by genetic analysis.During hospitalization in the psychiatric ward,the nonspecific psychiatric manifestations of the patient posed difficulty in diagnosis.After the patient’s history of CTX was identified,the patient was diagnosed with organic schizophrenia-like disorder,and psychotic symptoms were controlled by replacement therapy combined with antipsychotic medication.CONCLUSION Psychiatrists should be aware of CTX,its psychiatric manifestations,and clinical features and avoid misdiagnosis of CTX for timely intervention.
文摘CXT is a rare inherited autosomal recessive lipid storage disease due to the impaired metabolic pathway of cholesterol secondary to a deficiency in 27- sterol hydroxylase, an enzyme in the synthesis of chenodeoxycholic acid (CDCA), a primary bile acid. Abnormal bile acid synthesis leads to elevated plasma Cholestanol (a derivative of cholesterol) accumulation, especially in the lens, central nervous system (CNS) and tendons.
