BACKGROUND Interleukin-17(IL-17)inhibitors are known to cause exacerbation or new onset of inflammatory bowel disease upon administration.However,few reports have described characteristic endoscopic and histopathologi...BACKGROUND Interleukin-17(IL-17)inhibitors are known to cause exacerbation or new onset of inflammatory bowel disease upon administration.However,few reports have described characteristic endoscopic and histopathologic findings,and no small intestinal lesions have been reported so far.CASE SUMMARY A woman in her 60s with psoriasis was administered ixekizumab(IXE),an anti-IL-17A antibody,for the treatment of psoriasis.Twenty months after commencing treatment,the patient visited our hospital because of persistent diarrhea.Blood tests performed at the time of the visit revealed severe inflammation,and colonoscopy revealed multiple round ulcers throughout the colon.A tissue biopsy of the ulcer revealed infiltration of inflammatory cells and granuloma-like findings in the submucosal layer.Capsule endoscopy revealed multiple jejunal erosions.After the withdrawal of IXE,the symptoms gradually improved,and ulcer reduction and scarring of the colon were endoscopically confirmed.CONCLUSION To the best of our knowledge,17 reports have documented IL-17 inhibitorinduced entero-colitis with endoscopic images,endoscopic findings,and pathological characteristics,including the present case.Nine of these cases showed diffuse loss of vascular pattern,coarse mucosa/ulcer formation in the left colon,and endoscopic findings similar to those of ulcerative colitis.In the remaining eight cases,discontinuous erosions and ulcerations from the terminal ileum to the rectum were seen,with endoscopic findings similar to those of Crohn’s disease.In this case,the findings were confirmed by capsule endoscopy,which has not been previously reported.展开更多
BACKGROUND 17α-Hydroxylase deficiency(17-OHD)is a rare form of congenital adrenal hyperplasia,characterized by hypertension,hypokalemia,and gonadal dysplasia.However,due to the lack of a comprehensive understanding o...BACKGROUND 17α-Hydroxylase deficiency(17-OHD)is a rare form of congenital adrenal hyperplasia,characterized by hypertension,hypokalemia,and gonadal dysplasia.However,due to the lack of a comprehensive understanding of this disease,it is prone to misdiagnosis and missed diagnosis,and there is no complete cure.CASE SUMMARY We report a female patient with 17-OHD.The patient was admitted to the Department of Neurology of our hospital due to limb weakness.During treatment,it was found that the patient’s condition was difficult to correct except for hypokalemia,and her blood pressure was difficult to control with various antihypertensive drugs.She was then transferred to our department for further treatment.On physical examination,the patient's gonadal development was found to be abnormal,and chromosome analysis demonstrated karyotype 46,XY.Considering the possibility of 17-OHD,the cytochrome P450 family 17 subfamily A member 1(CYP17A1)test was performed to confirm the diagnosis.CONCLUSION The clinical manifestations of 17-OHD are complex.Hormone determination,imaging examination,chromosome determination and CYP17A1 gene test are helpful for early diagnosis.展开更多
p.Tyr329fs is a cytochrome P450c17 mutation among Chinese individuals.However,data on 17-α-hydroxylase deficiency caused by cytochrome P450c17 p.Tyr329fs homozygous mutation are lacking.This paper is a case report of...p.Tyr329fs is a cytochrome P450c17 mutation among Chinese individuals.However,data on 17-α-hydroxylase deficiency caused by cytochrome P450c17 p.Tyr329fs homozygous mutation are lacking.This paper is a case report of three patients homozygous for p.Tyr329fs who were diagnosed with 17-α-hydroxylase deficiency between 2005 and 2019.CASE SUMMARY Case 1 presented with hypertension,hypokalemia,sexual infantilism and delayed bone age.The patient had a 46,XY karyotype,was homozygous for p.Tyr329fs and was recently treated with dexamethasone 0.375 mg qn.Case 2 presented with hypokalemia,sexual infantilism,osteoporosis and delayed bone age.The patient had a 46,XY karyotype,was homozygous for p.Tyr329fs and was treated with dexamethasone 0.75 mg qn at the last follow-up.Serum potassium and blood pressure could be maintained within normal range for cases 1 and 2.Case 3 presented with amenorrhea,sexual infantilism,osteopenia and delayed bone age.The patient had a 46,XX karyotype,was homozygous for p.Tyr329fs and was treated with dexamethasone 0.75 mg qn and progynova 1 mg qd.Outpatient follow-up revealed an adrenocorticotropic hormone(8 AM)of<5.00 pg/mL.CONCLUSION The homozygous p.Tyr329fs mutation usually manifests as a combined deficiency,and definitive diagnosis depends primarily on genetic testing.展开更多
BACKGROUND Chromosome i(17)(q10)abnormality is mainly associated with chronic myeloid leukemia(CML),myelodysplastic syndrome/myeloproliferative tumors(MDS/MPD),and acute myeloid leukemia(AML).The role of i(17)(q10)in ...BACKGROUND Chromosome i(17)(q10)abnormality is mainly associated with chronic myeloid leukemia(CML),myelodysplastic syndrome/myeloproliferative tumors(MDS/MPD),and acute myeloid leukemia(AML).The role of i(17)(q10)in AML is still unknown,the differences between AML and acute promyelocytic leukemia(APL)-like AML with i(17)(q10)need more research.This study aimed to investigate the clinical characteristics and laboratory evidence of 2 AML cases with i(17)(q10),similar to APL phenotype.CASE SUMMARY Both pediatric patients were males;case 1 had newly diagnosed AML,and case 2 showed relapsed tumor after 1 year of drug withdrawal.Bone marrow cell morphology,chromosome karyotype analysis,Fully-instrumented submersible housing test,immunological assays,molecular biological methods,and blood tumor panoramic gene test were performed.All-trans retinoic acid(ATRA)combined with arsenic acid(As2O3)were used in the first course of treatment.Bone marrow was dominated by abnormal promyelocytic granulocytes.Karyotype test revealed i(17)(q10)isochromosome.Immunological phenotype mainly included positive expressions of CD9,CD13,CD33,and CD38.Case 1 suffered intracranial hemorrhage after re-chemotherapy and died on D162.For case 2,on D145 and D265,bone marrow promyelocytic granulocytes accounted for 2%.Flow cytometric residual lesion detection showed no abnormal immunophenotype cells.The copy number of WT1 gene in two cases were 1087 and 1010,respectively,and the expression rates were 55.29% and 59.5%,respectively.CONCLUSION ATRA,As2O3,and chemotherapy may be ineffective in treating APL-like AML with i(17)(q10)but without t(15;17)and PML-RARA fusion gene.展开更多
Objective To evaluate effectiveness of urgent surgical correction for infra cardiac total anomalous pulmonary venous drainage (TAPVD) in infants and children. Methods From July 2000 to April 2009,seventeen patients wi...Objective To evaluate effectiveness of urgent surgical correction for infra cardiac total anomalous pulmonary venous drainage (TAPVD) in infants and children. Methods From July 2000 to April 2009,seventeen patients with infra-cardiac type of total anomalous pulmonary venous connection received surgical correction展开更多
Background: Gastrointestinal stromal tumors are the most common type of mesenchymal tumors of the GI tract, most commonly found in the stomach and intestines. They are thought to grow from the interstitial cells of Ca...Background: Gastrointestinal stromal tumors are the most common type of mesenchymal tumors of the GI tract, most commonly found in the stomach and intestines. They are thought to grow from the interstitial cells of Cajal (ICCs) or precursors of these cells. They have an insidious onset and may grow to a very large size depending on the site of origin. Material and method: We present a case series of three patients who had very large GISTs that had different presentations and outcomes. Patients were from different backgrounds and all were above 50 years old. Each one had a palpable mass in the abdomen in the initial presentation with a multilobulated mass at imaging devoting malignant behavior and higher risk of the tumor. They are managed according to guidelines and treated with Imatinib, but none of them had genetic and molecular studies of the tumor due to non-availability of the test. Conclusion: As a conclusion, GISTs are not easy to diagnose especially in the early phase of the disease and it may take years for it to become clinically relevant. Thence a thorough medical history and physical exam with imaging and endoscopies are the main diagnostic modalities with the importance of molecular profiling that will guide therapy and predicting prognosis.展开更多
The China’s Earthquake Cases and Disaster Information System based on GIS (MapECDIS 2002 for Windows) is a GIS system developed to provide a tool for the government and the public to inquire and learn about disaster ...The China’s Earthquake Cases and Disaster Information System based on GIS (MapECDIS 2002 for Windows) is a GIS system developed to provide a tool for the government and the public to inquire and learn about disaster information (since 2221BC) and case study results (since 1966) of destructive earthquakes in China. The system is expected to be helpful, as an applied supplementary tool, for scientists and management personnel in earthquake prediction practice, seismological research and earthquake disaster research. The design idea and main functions of the system are introduced in the paper.展开更多
地理信息科学(GIS,Geographic Information science)课程改革创新实践,对进一步提升课程资源质量、建设适应新时代要求的高水平应用型课程体系和培养GIS复合型人才有重要意义。“GIS空间分析”是地理信息科学专业的核心课程,本文首先介...地理信息科学(GIS,Geographic Information science)课程改革创新实践,对进一步提升课程资源质量、建设适应新时代要求的高水平应用型课程体系和培养GIS复合型人才有重要意义。“GIS空间分析”是地理信息科学专业的核心课程,本文首先介绍了该门课程思政建设总体设计情况;然后从挖掘思政资源、完善课程内容、改进教学方法、探索课程思政建设模式和方法路径以及将课程建设目标融入教学过程5个方面,介绍了课程思政教学实践情况;随后,分别针对点数据、面数据和连续数据3种类型,设计了5个相关空间分析方法的课程思政教学案例;最后,总结了本课程的评价与成效、特色与创新。展开更多
文摘BACKGROUND Interleukin-17(IL-17)inhibitors are known to cause exacerbation or new onset of inflammatory bowel disease upon administration.However,few reports have described characteristic endoscopic and histopathologic findings,and no small intestinal lesions have been reported so far.CASE SUMMARY A woman in her 60s with psoriasis was administered ixekizumab(IXE),an anti-IL-17A antibody,for the treatment of psoriasis.Twenty months after commencing treatment,the patient visited our hospital because of persistent diarrhea.Blood tests performed at the time of the visit revealed severe inflammation,and colonoscopy revealed multiple round ulcers throughout the colon.A tissue biopsy of the ulcer revealed infiltration of inflammatory cells and granuloma-like findings in the submucosal layer.Capsule endoscopy revealed multiple jejunal erosions.After the withdrawal of IXE,the symptoms gradually improved,and ulcer reduction and scarring of the colon were endoscopically confirmed.CONCLUSION To the best of our knowledge,17 reports have documented IL-17 inhibitorinduced entero-colitis with endoscopic images,endoscopic findings,and pathological characteristics,including the present case.Nine of these cases showed diffuse loss of vascular pattern,coarse mucosa/ulcer formation in the left colon,and endoscopic findings similar to those of ulcerative colitis.In the remaining eight cases,discontinuous erosions and ulcerations from the terminal ileum to the rectum were seen,with endoscopic findings similar to those of Crohn’s disease.In this case,the findings were confirmed by capsule endoscopy,which has not been previously reported.
文摘BACKGROUND 17α-Hydroxylase deficiency(17-OHD)is a rare form of congenital adrenal hyperplasia,characterized by hypertension,hypokalemia,and gonadal dysplasia.However,due to the lack of a comprehensive understanding of this disease,it is prone to misdiagnosis and missed diagnosis,and there is no complete cure.CASE SUMMARY We report a female patient with 17-OHD.The patient was admitted to the Department of Neurology of our hospital due to limb weakness.During treatment,it was found that the patient’s condition was difficult to correct except for hypokalemia,and her blood pressure was difficult to control with various antihypertensive drugs.She was then transferred to our department for further treatment.On physical examination,the patient's gonadal development was found to be abnormal,and chromosome analysis demonstrated karyotype 46,XY.Considering the possibility of 17-OHD,the cytochrome P450 family 17 subfamily A member 1(CYP17A1)test was performed to confirm the diagnosis.CONCLUSION The clinical manifestations of 17-OHD are complex.Hormone determination,imaging examination,chromosome determination and CYP17A1 gene test are helpful for early diagnosis.
基金Anhui Province Central Guided Local Science and Technology Development Funding Project,No.2017070802D147Anhui Province Key Clinical Specialist Construction Fund.
文摘p.Tyr329fs is a cytochrome P450c17 mutation among Chinese individuals.However,data on 17-α-hydroxylase deficiency caused by cytochrome P450c17 p.Tyr329fs homozygous mutation are lacking.This paper is a case report of three patients homozygous for p.Tyr329fs who were diagnosed with 17-α-hydroxylase deficiency between 2005 and 2019.CASE SUMMARY Case 1 presented with hypertension,hypokalemia,sexual infantilism and delayed bone age.The patient had a 46,XY karyotype,was homozygous for p.Tyr329fs and was recently treated with dexamethasone 0.375 mg qn.Case 2 presented with hypokalemia,sexual infantilism,osteoporosis and delayed bone age.The patient had a 46,XY karyotype,was homozygous for p.Tyr329fs and was treated with dexamethasone 0.75 mg qn at the last follow-up.Serum potassium and blood pressure could be maintained within normal range for cases 1 and 2.Case 3 presented with amenorrhea,sexual infantilism,osteopenia and delayed bone age.The patient had a 46,XX karyotype,was homozygous for p.Tyr329fs and was treated with dexamethasone 0.75 mg qn and progynova 1 mg qd.Outpatient follow-up revealed an adrenocorticotropic hormone(8 AM)of<5.00 pg/mL.CONCLUSION The homozygous p.Tyr329fs mutation usually manifests as a combined deficiency,and definitive diagnosis depends primarily on genetic testing.
基金Supported by Shaanxi Natural Science Foundation,No.2020SF-004.
文摘BACKGROUND Chromosome i(17)(q10)abnormality is mainly associated with chronic myeloid leukemia(CML),myelodysplastic syndrome/myeloproliferative tumors(MDS/MPD),and acute myeloid leukemia(AML).The role of i(17)(q10)in AML is still unknown,the differences between AML and acute promyelocytic leukemia(APL)-like AML with i(17)(q10)need more research.This study aimed to investigate the clinical characteristics and laboratory evidence of 2 AML cases with i(17)(q10),similar to APL phenotype.CASE SUMMARY Both pediatric patients were males;case 1 had newly diagnosed AML,and case 2 showed relapsed tumor after 1 year of drug withdrawal.Bone marrow cell morphology,chromosome karyotype analysis,Fully-instrumented submersible housing test,immunological assays,molecular biological methods,and blood tumor panoramic gene test were performed.All-trans retinoic acid(ATRA)combined with arsenic acid(As2O3)were used in the first course of treatment.Bone marrow was dominated by abnormal promyelocytic granulocytes.Karyotype test revealed i(17)(q10)isochromosome.Immunological phenotype mainly included positive expressions of CD9,CD13,CD33,and CD38.Case 1 suffered intracranial hemorrhage after re-chemotherapy and died on D162.For case 2,on D145 and D265,bone marrow promyelocytic granulocytes accounted for 2%.Flow cytometric residual lesion detection showed no abnormal immunophenotype cells.The copy number of WT1 gene in two cases were 1087 and 1010,respectively,and the expression rates were 55.29% and 59.5%,respectively.CONCLUSION ATRA,As2O3,and chemotherapy may be ineffective in treating APL-like AML with i(17)(q10)but without t(15;17)and PML-RARA fusion gene.
文摘Objective To evaluate effectiveness of urgent surgical correction for infra cardiac total anomalous pulmonary venous drainage (TAPVD) in infants and children. Methods From July 2000 to April 2009,seventeen patients with infra-cardiac type of total anomalous pulmonary venous connection received surgical correction
文摘Background: Gastrointestinal stromal tumors are the most common type of mesenchymal tumors of the GI tract, most commonly found in the stomach and intestines. They are thought to grow from the interstitial cells of Cajal (ICCs) or precursors of these cells. They have an insidious onset and may grow to a very large size depending on the site of origin. Material and method: We present a case series of three patients who had very large GISTs that had different presentations and outcomes. Patients were from different backgrounds and all were above 50 years old. Each one had a palpable mass in the abdomen in the initial presentation with a multilobulated mass at imaging devoting malignant behavior and higher risk of the tumor. They are managed according to guidelines and treated with Imatinib, but none of them had genetic and molecular studies of the tumor due to non-availability of the test. Conclusion: As a conclusion, GISTs are not easy to diagnose especially in the early phase of the disease and it may take years for it to become clinically relevant. Thence a thorough medical history and physical exam with imaging and endoscopies are the main diagnostic modalities with the importance of molecular profiling that will guide therapy and predicting prognosis.
文摘The China’s Earthquake Cases and Disaster Information System based on GIS (MapECDIS 2002 for Windows) is a GIS system developed to provide a tool for the government and the public to inquire and learn about disaster information (since 2221BC) and case study results (since 1966) of destructive earthquakes in China. The system is expected to be helpful, as an applied supplementary tool, for scientists and management personnel in earthquake prediction practice, seismological research and earthquake disaster research. The design idea and main functions of the system are introduced in the paper.
文摘地理信息科学(GIS,Geographic Information science)课程改革创新实践,对进一步提升课程资源质量、建设适应新时代要求的高水平应用型课程体系和培养GIS复合型人才有重要意义。“GIS空间分析”是地理信息科学专业的核心课程,本文首先介绍了该门课程思政建设总体设计情况;然后从挖掘思政资源、完善课程内容、改进教学方法、探索课程思政建设模式和方法路径以及将课程建设目标融入教学过程5个方面,介绍了课程思政教学实践情况;随后,分别针对点数据、面数据和连续数据3种类型,设计了5个相关空间分析方法的课程思政教学案例;最后,总结了本课程的评价与成效、特色与创新。
