AIM To evaluate the role of small bowel capsule endoscopy(SBCE) on the reclassification of colonic inflammatory bowel disease type unclassified(IBDU).METHODS We performed a multicenter, retrospective study including p...AIM To evaluate the role of small bowel capsule endoscopy(SBCE) on the reclassification of colonic inflammatory bowel disease type unclassified(IBDU).METHODS We performed a multicenter, retrospective study including patients with IBDU undergoing SBCE, between 2002 and 2014. SBCE studies were reviewed and the inflammatory activity was evaluated by determining the Lewis score(LS). Inflammatory activity was considered significant and consistent with Crohn's disease(CD) when the LS ≥ 135. The definitive diagnosis during follow-up(minimum 12 mo following SBCE) was based on the combination of clinical, analytical, imaging, endoscopic and histological elements.RESULTS Thirty-six patients were included, 21 females(58%) with mean age at diagnosis of 33 ± 13(15-64) years. The mean follow-up time after the SBCE was 52 ± 41(12-156) mo. The SBCE revealed findings consistent with significant inflammatory activity in the small bowel(LS ≥ 135) in 9 patients(25%); in all of them the diagnosis of CD was confirmed during follow-up. In 27 patients(75%), the SBCE revealed no significant inflammatory activity(LS < 135); among these patients, the diagnosis of Ulcerative Colitis(UC) was established in 16 cases(59.3%), CD in 1 case(3.7%) and 10 patients(37%) maintained a diagnosis of IBDU during follow-up. A LS ≥ 135 at SBCE had a sensitivity = 90%, specificity = 100%, positive predictive value = 100% and negative predictive value = 94% for the diagnosis of CD.CONCLUSION SBCE proved to be fundamental in the reclassification of patients with IBDU. Absence of significant inflammatory activity in the small intestine allowed exclusion of CD in 94% of cases.展开更多
Niemann-Pick disease type C(NPC) is a fatal, neurovisceral lipid storage disease, neuropathologically characterized by cytoplasmic sequestration of glycolipids in neurons, progressive neuronal loss, neurofibrillary ta...Niemann-Pick disease type C(NPC) is a fatal, neurovisceral lipid storage disease, neuropathologically characterized by cytoplasmic sequestration of glycolipids in neurons, progressive neuronal loss, neurofibrillary tangles(NFTs) formation, and axonal spheroids(AS). Cytoskeletal pathology including accumulation of hyperphosphorylated cytoskeletal proteins is a neuropathological hallmark of the mouse model of NPC(npc mice). With a goal of elucidating the mechanisms underlying the lesion formation, we investigated the temporal and spatial characteristics of cytoskeletal lesions and the roles of cdc2, cdk4, and cdk5 in lesion formation in young npc mice. Cytoskeletal lesions were detectable in npc mice at three weeks of age. Importantly, concomitant activation of cdc2/cyclin B1 kinase and accumulation of a subsequently generated cohort of phospho-epitopes were detected. The activation of cdk4/cyclin D1 and cdk5/p25 kinases was observed during the fourth week of life in npc mice, and this activation contributed to the lesion formation. We concluded that the progression of cytoskeletal pathology in npc mice older than four weeks is accelerated by the cumulative effect of cdc2, cdk4, and cdk5 activation. Furthermore, cdc2/cyclin B1 may act as a key initial player one week earlier. Targeting cell cycle activation may be beneficial to slow down the NPC pathogenesis.展开更多
BACKGROUND Glycogen storage disease type Ia(GSDIa) is an autosomal recessive inborn error of carbohydrate metabolism that is caused by deficiency of the enzyme glucose-6-phosphatase(G6Pase),leading to disturbed glycog...BACKGROUND Glycogen storage disease type Ia(GSDIa) is an autosomal recessive inborn error of carbohydrate metabolism that is caused by deficiency of the enzyme glucose-6-phosphatase(G6Pase),leading to disturbed glycogenolysis and gluconeogenesis.Patients with GSDIa show severe fasting hypoglycemia,hyperlipidemia,hyperlactacidemia,and hyperuricemia,which are associated with fatal outcomes in pregnant women and fetuses.CASE SUMMARY Herein,we report the case of a 24-year-old female who on her first visit to the hospital,presented with pregnancy combined with extremely high hyperlipidemia and hyperlactic acidosis with anemia,and frequent hypoglycemia occurred during the treatment.Genetic tests revealed a mutation in the G6Pase gene(G6PC) at 17q21,the patient was finally diagnosed with glycogen storage disease type Ia for the first time after 22 years of inaccurate treatment.She has been treated with a continuous double filtration plasmapheresis(DFPP) strategy to remove blood lipids,and a cornstarch diet therapy.The patient did not develop pancreatitis during the course of the disease and a healthy baby girl weighing 3 kg was delivered.CONCLUSION Patients with GSDIa may be misdiagnosed as epilepsy.DFPP can be used to control hyperlipidemia in GSDIa patients during pregnancy.展开更多
BACKGROUND A patient with type Ⅲ Kummell’s disease had a ruptured posterior cortex of the fractured vertebral body, which caused spinal cord compression. An open surgery was considered the best choice of operation. ...BACKGROUND A patient with type Ⅲ Kummell’s disease had a ruptured posterior cortex of the fractured vertebral body, which caused spinal cord compression. An open surgery was considered the best choice of operation. However, the patient and her family refused open surgery and instead demanded a minimally invasive surgical treatment such as percutaneous vertebroplasty(PVP). After preoperative discussion, we finally adopted the novel therapy of traditional Chinese medicine manipulative reduction(TCMMR) combined with PVP.CASE SUMMARY A patient with type Ⅲ Kummell’s disease exhibiting bone block-induced spinal cord compression was admitted to our hospital. She suffered from a variety of medical disorders but refused open surgery, and instead asked for PVP surgery. TCMMR, in parallel with PVP, was used to restore the height of the compressed vertebral body and reduce the symptoms of spinal cord compression by the bone block in order to strengthen the vertebral body and prevent further collapse. The surgery was very successful. The height of the compressed vertebra was restored, and the symptom of spinal cord compression by bone block was reduced successfully via TCMMR. The fractured vertebra was solidified by the PVP. The pain visual analog score declined from preoperative 7 scores to postoperative 2 scores, and the Frankel spinal cord scale increased from preoperative D degree to postoperative E degree.CONCLUSION The new method has advantages in treating patients with type Ⅲ Kummell’s disease who cannot be treated with open surgery.展开更多
Pompe disease (PD) is a rare inborn error of metabolism due to an abnormal acid alpha-glucosidase (GAA) activity that comprises glycogen breakdown mainly in the lysosomes. Since the introduction of enzyme replacement ...Pompe disease (PD) is a rare inborn error of metabolism due to an abnormal acid alpha-glucosidase (GAA) activity that comprises glycogen breakdown mainly in the lysosomes. Since the introduction of enzyme replacement therapy (ERT), with recombinant human GAA for the early onset PD patient, a relevant field of clinical research due to the benefits regarding survival rate has been widely documented worldwide. Objective: To describe the clinical characteristics and the ERT effects in a series of Brazilian patients with infantile onset PD (IOPD) under ERT. Methods: Brazilian patients diagnosed with IOPD under ERT were recruited through their physicians participating in the International Pompe Disease Registry from 2009 to 2017. Data were collected by an online survey. Results: 10 IOPD patients were identified through the survey with a death rate of 30% and technology dependency rate reported as 80% (motor, respiratory or nutritional fields) of the patients. After the third year of ERT, motor disabilities were lost in 50% of ambulated patients. The overall characteristics were similar to international studies. Conclusion: Despite ERT benefits in cardiac involvement, motor disabilities seem to be much more compromised in IOPD patients, with high technology dependence, especially after three years of age.展开更多
Objective:This study was undertaken to evaluate the clinical efficacy of Western medicine combined with Chinese medicine for pelvic inflammatory disease(damp-heat and stasis type).Methods:Seventy-four patients who wer...Objective:This study was undertaken to evaluate the clinical efficacy of Western medicine combined with Chinese medicine for pelvic inflammatory disease(damp-heat and stasis type).Methods:Seventy-four patients who were diagnosed with pelvic inflammatory disease(damp-heat and stasis type)by our hospital during July 2021 to July 2022 were randomized into two groups:the participants in the control group received conventional Western medicine treatment,and the participants in the study group received Western medicine combined with Chinese medicine.Results:After treatment,the total effectiveness of the control group(72.98%)was significantly lower than that of the study group(94.59%),(P<0.05);the whole blood viscosity high cut,whole blood viscosity low cut,fibrinogen and plasma viscosity of the control group were all lower than those of the study group(P<0.05);the levels of CRP,IL-6,and TNF-αin the control group were higher and IL-2 levels in the control group were lower than those in the study group(P<0.05).Conclusion:Western medicine combined with Chinese medicine is more effective in curing damp-heat and stasis-type pelvic inflammatory disease by improving the blood rheological indexes and lowering the level of inflammatory factors.展开更多
Objective Modified upper abdominal cluster transplantation ( MCT) ,which was inspired by classical cluster transplant technique,has been proven more effective and feasible in the treatment of patients with end stage l...Objective Modified upper abdominal cluster transplantation ( MCT) ,which was inspired by classical cluster transplant technique,has been proven more effective and feasible in the treatment of patients with end stage liver diseases associated with insulin - dependent展开更多
Certain amino acids changes in the human Na^(+)/K^(+)-ATPase pump,ATPase Na^(+)/K^(+)transporting subunit alpha 1(ATP1A1),cause Charcot-Marie-Tooth disease type 2(CMT2)disease and refractory seizures.To develop in viv...Certain amino acids changes in the human Na^(+)/K^(+)-ATPase pump,ATPase Na^(+)/K^(+)transporting subunit alpha 1(ATP1A1),cause Charcot-Marie-Tooth disease type 2(CMT2)disease and refractory seizures.To develop in vivo models to study the role of Na^(+)/K^(+)-ATPase in these diseases,we modified the Drosophila gene homolog,Atpα,to mimic the human ATP1A1 gene mutations that cause CMT2.Mutations located within the helical linker region of human ATP1A1(I592T,A597T,P600T,and D601F)were simultaneously introduced into endogenous Drosophila Atpαby CRISPR/Cas9-mediated genome editing,generating the Atpα^(TTTF)model.In addition,the same strategy was used to generate the corresponding single point mutations in flies(Atpα^(I571T),Atpα^(A576T),Atpα^(P579T),and Atpα^(D580F)).Moreover,a deletion mutation(Atpα^(mut))that causes premature termination of translation was generated as a positive control.Of these alleles,we found two that could be maintained as homozygotes(Atpα^(I571T)and Atpα^(P579T)).Three alleles(Atpα^(A576T),Atpα^(P579)and Atpα^(D580F))can form heterozygotes with the Atpαmut allele.We found that the Atpαallele carrying these CMT2-associated mutations showed differential phenotypes in Drosophila.Flies heterozygous for Atpα^(TTTF)mutations have motor performance defects,a reduced lifespan,seizures,and an abnormal neuronal morphology.These Drosophila models will provide a new platform for studying the function and regulation of the sodium-potassium pump.展开更多
BACKGROUND Glycogen storage disease type Ib(GSD-Ib)is a glycogen metabolism disorder that leads to the manifestations of inflammatory bowel disease(IBD),especially Crohn’s disease(CD)-like colitis.Although biological...BACKGROUND Glycogen storage disease type Ib(GSD-Ib)is a glycogen metabolism disorder that leads to the manifestations of inflammatory bowel disease(IBD),especially Crohn’s disease(CD)-like colitis.Although biological agents are effective for treating CD,their application in the treatment of GSD-Ib with CD-like colitis has been rarely reported.CASE SUMMARY A 13-year-old Han male was diagnosed with GSD-Ib with CD.The patient was treated with granulocyte colony-stimulating factor.When he had symptoms of CD-like colitis,he was continuously pumped with enteral nutrition and administered oral mesalazine for 2 wk;however,the symptoms did not improve significantly.Hence,infliximab(IFX)was administered.Hitherto,the patient has been followed up for 1 year,and no clinical manifestations have been observed.After 6 mo of treatment(fifth IFX treatment),the disease activity index and all inflammatory indexes decreased,and a review of the colonoscopy data showed that the ulcers appeared smooth.CONCLUSION In this study,the patient was successfully treated with IFX.In cases of GSD-Ib,IBD should be highly considered.展开更多
Glycogen storage disease type Ia(GSD-Ia)is an autosomal recessive metabolic disorder caused by a deficiency in glucose-6-phosphatase-α(G6Pase-αor G6PC)that is expressed primarily in the liver,kidney,and intestine.G6...Glycogen storage disease type Ia(GSD-Ia)is an autosomal recessive metabolic disorder caused by a deficiency in glucose-6-phosphatase-α(G6Pase-αor G6PC)that is expressed primarily in the liver,kidney,and intestine.G6Pase-αcatalyzes the hydrolysis of glucose-6-phosphate(G6P)to glucose and phosphate in the terminal step of gluconeogenesis and glycogenolysis,and is a key enzyme for endogenous glucose production.The active site of G6Pase-αis inside the endoplasmic reticulum(ER)lumen.For catalysis,the substrate G6P must be translocated from the cytoplasm into the ER lumen by a G6P transporter(G6PT).The functional coupling of G6Pase-αand G6PT maintains interprandial glucose homeostasis.Dietary therapies for GSD-Ia are available,but cannot prevent the long-term complication of hepatocellular adenoma that may undergo malignant transformation to hepatocellular carcinoma.Animal models of GSD-Ia are now available and are being exploited to both delineate the disease more precisely and develop new treatment approaches,including gene therapy.展开更多
Objective To explore the relationship between serum osteocalcin levels and glucolipid metabolism in elderly type 2 diabetic patients with non-alcoholic fatty liver disease(NAFLD).Methods Data collected from 97 pa-tien...Objective To explore the relationship between serum osteocalcin levels and glucolipid metabolism in elderly type 2 diabetic patients with non-alcoholic fatty liver disease(NAFLD).Methods Data collected from 97 pa-tients with type 2 diabetes mellitus(T2DM)admitted to the Department of Geriatric Endocrinology of the First Affiliated hospital of Zhengzhou University from June展开更多
Objective To investigate the relationship between baseline serum uric acid and the severity of coronary artery disease(CAD)in the first-degree relatives or nonfirst-degree relatives of men with type 2 diabetes.Methods...Objective To investigate the relationship between baseline serum uric acid and the severity of coronary artery disease(CAD)in the first-degree relatives or nonfirst-degree relatives of men with type 2 diabetes.Methods Three hundred and eighty-one men with negative coronary angiography for the first time were divided into diabetes and non-diabetes groups and followed-up for展开更多
文摘AIM To evaluate the role of small bowel capsule endoscopy(SBCE) on the reclassification of colonic inflammatory bowel disease type unclassified(IBDU).METHODS We performed a multicenter, retrospective study including patients with IBDU undergoing SBCE, between 2002 and 2014. SBCE studies were reviewed and the inflammatory activity was evaluated by determining the Lewis score(LS). Inflammatory activity was considered significant and consistent with Crohn's disease(CD) when the LS ≥ 135. The definitive diagnosis during follow-up(minimum 12 mo following SBCE) was based on the combination of clinical, analytical, imaging, endoscopic and histological elements.RESULTS Thirty-six patients were included, 21 females(58%) with mean age at diagnosis of 33 ± 13(15-64) years. The mean follow-up time after the SBCE was 52 ± 41(12-156) mo. The SBCE revealed findings consistent with significant inflammatory activity in the small bowel(LS ≥ 135) in 9 patients(25%); in all of them the diagnosis of CD was confirmed during follow-up. In 27 patients(75%), the SBCE revealed no significant inflammatory activity(LS < 135); among these patients, the diagnosis of Ulcerative Colitis(UC) was established in 16 cases(59.3%), CD in 1 case(3.7%) and 10 patients(37%) maintained a diagnosis of IBDU during follow-up. A LS ≥ 135 at SBCE had a sensitivity = 90%, specificity = 100%, positive predictive value = 100% and negative predictive value = 94% for the diagnosis of CD.CONCLUSION SBCE proved to be fundamental in the reclassification of patients with IBDU. Absence of significant inflammatory activity in the small intestine allowed exclusion of CD in 94% of cases.
基金supported by the National Natural Science Foundation of China(No.81271406)
文摘Niemann-Pick disease type C(NPC) is a fatal, neurovisceral lipid storage disease, neuropathologically characterized by cytoplasmic sequestration of glycolipids in neurons, progressive neuronal loss, neurofibrillary tangles(NFTs) formation, and axonal spheroids(AS). Cytoskeletal pathology including accumulation of hyperphosphorylated cytoskeletal proteins is a neuropathological hallmark of the mouse model of NPC(npc mice). With a goal of elucidating the mechanisms underlying the lesion formation, we investigated the temporal and spatial characteristics of cytoskeletal lesions and the roles of cdc2, cdk4, and cdk5 in lesion formation in young npc mice. Cytoskeletal lesions were detectable in npc mice at three weeks of age. Importantly, concomitant activation of cdc2/cyclin B1 kinase and accumulation of a subsequently generated cohort of phospho-epitopes were detected. The activation of cdk4/cyclin D1 and cdk5/p25 kinases was observed during the fourth week of life in npc mice, and this activation contributed to the lesion formation. We concluded that the progression of cytoskeletal pathology in npc mice older than four weeks is accelerated by the cumulative effect of cdc2, cdk4, and cdk5 activation. Furthermore, cdc2/cyclin B1 may act as a key initial player one week earlier. Targeting cell cycle activation may be beneficial to slow down the NPC pathogenesis.
文摘BACKGROUND Glycogen storage disease type Ia(GSDIa) is an autosomal recessive inborn error of carbohydrate metabolism that is caused by deficiency of the enzyme glucose-6-phosphatase(G6Pase),leading to disturbed glycogenolysis and gluconeogenesis.Patients with GSDIa show severe fasting hypoglycemia,hyperlipidemia,hyperlactacidemia,and hyperuricemia,which are associated with fatal outcomes in pregnant women and fetuses.CASE SUMMARY Herein,we report the case of a 24-year-old female who on her first visit to the hospital,presented with pregnancy combined with extremely high hyperlipidemia and hyperlactic acidosis with anemia,and frequent hypoglycemia occurred during the treatment.Genetic tests revealed a mutation in the G6Pase gene(G6PC) at 17q21,the patient was finally diagnosed with glycogen storage disease type Ia for the first time after 22 years of inaccurate treatment.She has been treated with a continuous double filtration plasmapheresis(DFPP) strategy to remove blood lipids,and a cornstarch diet therapy.The patient did not develop pancreatitis during the course of the disease and a healthy baby girl weighing 3 kg was delivered.CONCLUSION Patients with GSDIa may be misdiagnosed as epilepsy.DFPP can be used to control hyperlipidemia in GSDIa patients during pregnancy.
文摘BACKGROUND A patient with type Ⅲ Kummell’s disease had a ruptured posterior cortex of the fractured vertebral body, which caused spinal cord compression. An open surgery was considered the best choice of operation. However, the patient and her family refused open surgery and instead demanded a minimally invasive surgical treatment such as percutaneous vertebroplasty(PVP). After preoperative discussion, we finally adopted the novel therapy of traditional Chinese medicine manipulative reduction(TCMMR) combined with PVP.CASE SUMMARY A patient with type Ⅲ Kummell’s disease exhibiting bone block-induced spinal cord compression was admitted to our hospital. She suffered from a variety of medical disorders but refused open surgery, and instead asked for PVP surgery. TCMMR, in parallel with PVP, was used to restore the height of the compressed vertebral body and reduce the symptoms of spinal cord compression by the bone block in order to strengthen the vertebral body and prevent further collapse. The surgery was very successful. The height of the compressed vertebra was restored, and the symptom of spinal cord compression by bone block was reduced successfully via TCMMR. The fractured vertebra was solidified by the PVP. The pain visual analog score declined from preoperative 7 scores to postoperative 2 scores, and the Frankel spinal cord scale increased from preoperative D degree to postoperative E degree.CONCLUSION The new method has advantages in treating patients with type Ⅲ Kummell’s disease who cannot be treated with open surgery.
文摘Pompe disease (PD) is a rare inborn error of metabolism due to an abnormal acid alpha-glucosidase (GAA) activity that comprises glycogen breakdown mainly in the lysosomes. Since the introduction of enzyme replacement therapy (ERT), with recombinant human GAA for the early onset PD patient, a relevant field of clinical research due to the benefits regarding survival rate has been widely documented worldwide. Objective: To describe the clinical characteristics and the ERT effects in a series of Brazilian patients with infantile onset PD (IOPD) under ERT. Methods: Brazilian patients diagnosed with IOPD under ERT were recruited through their physicians participating in the International Pompe Disease Registry from 2009 to 2017. Data were collected by an online survey. Results: 10 IOPD patients were identified through the survey with a death rate of 30% and technology dependency rate reported as 80% (motor, respiratory or nutritional fields) of the patients. After the third year of ERT, motor disabilities were lost in 50% of ambulated patients. The overall characteristics were similar to international studies. Conclusion: Despite ERT benefits in cardiac involvement, motor disabilities seem to be much more compromised in IOPD patients, with high technology dependence, especially after three years of age.
文摘Objective:This study was undertaken to evaluate the clinical efficacy of Western medicine combined with Chinese medicine for pelvic inflammatory disease(damp-heat and stasis type).Methods:Seventy-four patients who were diagnosed with pelvic inflammatory disease(damp-heat and stasis type)by our hospital during July 2021 to July 2022 were randomized into two groups:the participants in the control group received conventional Western medicine treatment,and the participants in the study group received Western medicine combined with Chinese medicine.Results:After treatment,the total effectiveness of the control group(72.98%)was significantly lower than that of the study group(94.59%),(P<0.05);the whole blood viscosity high cut,whole blood viscosity low cut,fibrinogen and plasma viscosity of the control group were all lower than those of the study group(P<0.05);the levels of CRP,IL-6,and TNF-αin the control group were higher and IL-2 levels in the control group were lower than those in the study group(P<0.05).Conclusion:Western medicine combined with Chinese medicine is more effective in curing damp-heat and stasis-type pelvic inflammatory disease by improving the blood rheological indexes and lowering the level of inflammatory factors.
文摘Objective Modified upper abdominal cluster transplantation ( MCT) ,which was inspired by classical cluster transplant technique,has been proven more effective and feasible in the treatment of patients with end stage liver diseases associated with insulin - dependent
基金supported by the Natural Science Foundation of Fujian Province,No.2020J02027the National Natural Science Foundation of China,No.31970461the Foundation of NHC Key Laboratory of Technical Evaluation of Fertility Regulation for Non-human Primate,Fujian Maternity and Child Health Hospital,No.2022-NHP-05(all to WC).
文摘Certain amino acids changes in the human Na^(+)/K^(+)-ATPase pump,ATPase Na^(+)/K^(+)transporting subunit alpha 1(ATP1A1),cause Charcot-Marie-Tooth disease type 2(CMT2)disease and refractory seizures.To develop in vivo models to study the role of Na^(+)/K^(+)-ATPase in these diseases,we modified the Drosophila gene homolog,Atpα,to mimic the human ATP1A1 gene mutations that cause CMT2.Mutations located within the helical linker region of human ATP1A1(I592T,A597T,P600T,and D601F)were simultaneously introduced into endogenous Drosophila Atpαby CRISPR/Cas9-mediated genome editing,generating the Atpα^(TTTF)model.In addition,the same strategy was used to generate the corresponding single point mutations in flies(Atpα^(I571T),Atpα^(A576T),Atpα^(P579T),and Atpα^(D580F)).Moreover,a deletion mutation(Atpα^(mut))that causes premature termination of translation was generated as a positive control.Of these alleles,we found two that could be maintained as homozygotes(Atpα^(I571T)and Atpα^(P579T)).Three alleles(Atpα^(A576T),Atpα^(P579)and Atpα^(D580F))can form heterozygotes with the Atpαmut allele.We found that the Atpαallele carrying these CMT2-associated mutations showed differential phenotypes in Drosophila.Flies heterozygous for Atpα^(TTTF)mutations have motor performance defects,a reduced lifespan,seizures,and an abnormal neuronal morphology.These Drosophila models will provide a new platform for studying the function and regulation of the sodium-potassium pump.
基金the Digestive Medical Coordinated Development Center of Beijing Hospitals Authority,No.XXZ0505.
文摘BACKGROUND Glycogen storage disease type Ib(GSD-Ib)is a glycogen metabolism disorder that leads to the manifestations of inflammatory bowel disease(IBD),especially Crohn’s disease(CD)-like colitis.Although biological agents are effective for treating CD,their application in the treatment of GSD-Ib with CD-like colitis has been rarely reported.CASE SUMMARY A 13-year-old Han male was diagnosed with GSD-Ib with CD.The patient was treated with granulocyte colony-stimulating factor.When he had symptoms of CD-like colitis,he was continuously pumped with enteral nutrition and administered oral mesalazine for 2 wk;however,the symptoms did not improve significantly.Hence,infliximab(IFX)was administered.Hitherto,the patient has been followed up for 1 year,and no clinical manifestations have been observed.After 6 mo of treatment(fifth IFX treatment),the disease activity index and all inflammatory indexes decreased,and a review of the colonoscopy data showed that the ulcers appeared smooth.CONCLUSION In this study,the patient was successfully treated with IFX.In cases of GSD-Ib,IBD should be highly considered.
基金This research was supported by the Intramural Research Program of the Eunice Kennedy Shriver National Institute of Child Health and Human Development,National Institutes of Health(HD000912-38).
文摘Glycogen storage disease type Ia(GSD-Ia)is an autosomal recessive metabolic disorder caused by a deficiency in glucose-6-phosphatase-α(G6Pase-αor G6PC)that is expressed primarily in the liver,kidney,and intestine.G6Pase-αcatalyzes the hydrolysis of glucose-6-phosphate(G6P)to glucose and phosphate in the terminal step of gluconeogenesis and glycogenolysis,and is a key enzyme for endogenous glucose production.The active site of G6Pase-αis inside the endoplasmic reticulum(ER)lumen.For catalysis,the substrate G6P must be translocated from the cytoplasm into the ER lumen by a G6P transporter(G6PT).The functional coupling of G6Pase-αand G6PT maintains interprandial glucose homeostasis.Dietary therapies for GSD-Ia are available,but cannot prevent the long-term complication of hepatocellular adenoma that may undergo malignant transformation to hepatocellular carcinoma.Animal models of GSD-Ia are now available and are being exploited to both delineate the disease more precisely and develop new treatment approaches,including gene therapy.
文摘Objective To explore the relationship between serum osteocalcin levels and glucolipid metabolism in elderly type 2 diabetic patients with non-alcoholic fatty liver disease(NAFLD).Methods Data collected from 97 pa-tients with type 2 diabetes mellitus(T2DM)admitted to the Department of Geriatric Endocrinology of the First Affiliated hospital of Zhengzhou University from June
文摘Objective To investigate the relationship between baseline serum uric acid and the severity of coronary artery disease(CAD)in the first-degree relatives or nonfirst-degree relatives of men with type 2 diabetes.Methods Three hundred and eighty-one men with negative coronary angiography for the first time were divided into diabetes and non-diabetes groups and followed-up for
