BACKGROUND Xanthomatosis,a metabolic disorder causing yellow growths(xanthomas),poses challenges in lipid metabolism.This case study introduces the first documented instance within China's Yi population,emphasizin...BACKGROUND Xanthomatosis,a metabolic disorder causing yellow growths(xanthomas),poses challenges in lipid metabolism.This case study introduces the first documented instance within China's Yi population,emphasizing the need to explore dietary habits and treatment strategies tailored to this specific community.CASE SUMMARY Xanthomatosis is a metabolic disorder where lipid metabolism goes awry,resulting in the development of yellowish growths called xanthomas.A male patient,47 years of age,from China's Yi population,who is obese,visited our dermatology clinic complaining of widespread,non-painful rashes that have been present for two weeks.The patient works as a chef and has a diet that frequently includes oily and greasy foods.This case represents the initial documentation of xanthomatosis within the Yi population in China,offering a theoretical foundation for understanding dietary patterns and treatment options specific to the Yi community.CONCLUSION The first report of xanthomatosis in the Yi population in China lays a theoretical foundation for understanding Yi dietary patterns and treatment.展开更多
BACKGROUND The neutrophil-to-lymphocyte ratio(NLR)and platelet-to-lymphocyte ratio(PLR)are novel inflammatory indicators that can be used to predict the severity and prognosis of various diseases.We categorize acute p...BACKGROUND The neutrophil-to-lymphocyte ratio(NLR)and platelet-to-lymphocyte ratio(PLR)are novel inflammatory indicators that can be used to predict the severity and prognosis of various diseases.We categorize acute pancreatitis by etiology into acute biliary pancreatitis(ABP)and hypertriglyceridemia-induced acute pancreatitis(HTGP).AIM To investigate the clinical significance of NLR and PLR in assessing persistent organ failure(POF)in HTGP and ABP.METHODS A total of 1450 patients diagnosed with acute pancreatitis(AP)for the first time at Shanxi Bethune Hospital between January 2012 and January 2023 were enrolled.The patients were categorized into two groups according to the etiology of AP:ABP in 530 patients and HTGP in 241 patients.We collected and compared the clinical data of the patients,including NLR,PLR,and AP prognostic scoring systems,within 48 h of hospital admission.RESULTS The NLR(9.1 vs 6.9,P<0.001)and PLR(203.1 vs 160.5,P<0.001)were significantly higher in the ABP group than in the HTGP group.In the HTGP group,both NLR and PLR were significantly increased in patients with severe AP and those with a SOFA score≥3.Likewise,in the ABP group,NLR and PLR were significantly elevated in patients with severe AP,modified computed tomography severity index score≥4,Japanese Severity Score≥3,and modified Marshall score≥2.Moreover,NLR and PLR showed predictive value for the development of POF in both the ABP and HTGP groups.CONCLUSION NLR and PLR vary between ABP and HTGP,are strongly associated with AP prognostic scoring systems,and have predictive potential for the occurrence of POF in both ABP and HTGP.展开更多
Background: Acute pancreatitis (AP) is an extensive inflammation condition that may lead to local and systemic complications, ranging from mild edematous peripancreatic fluid collection to multiorgan failure and death...Background: Acute pancreatitis (AP) is an extensive inflammation condition that may lead to local and systemic complications, ranging from mild edematous peripancreatic fluid collection to multiorgan failure and death. Aim: To report the case of the patient with the complications that happened and the presented management. Case presentation: A 37-year-old female patient presented with acute necrotizing pancreatitis secondary to hypertriglyceridemia. During hospitalization, the patient developed severe ileus with splenic vein thrombosis. She was treated conservatively with Intravenous (IV) fluids, insulin infusion, anticoagulant, pain relief medication and antibiotics. Discussion: This case of pancreatitis induced splenic vein thrombosis (PIVST) was treated supportively with outstanding improvement of the patient’s symptoms. Conclusion: Acute pancreatitis can be complicated by splenic vein thrombosis that can be self-limited and treated with conservative measures.展开更多
Objective: To investigate the association between the mutations in lipoprotein lipase gene and hypertriglyceridemia (HTG). Methods: The lipoprotein lipase (LPL) gene was screened for mutations in 386 Chinese sub...Objective: To investigate the association between the mutations in lipoprotein lipase gene and hypertriglyceridemia (HTG). Methods: The lipoprotein lipase (LPL) gene was screened for mutations in 386 Chinese subjects with (108 cases in the HTG group) or without HTG (278 cases in the control group), by single-strand conformation polymorphism (SSCP) analysis and DNA sequencing. Results: One novel silent mutation L103L, one missense mutation P207L, three splicing mutations Int3/3' -ass/C(-6)→T, and the common S447X polymorphism has been identified in the whole coding region and exon-intron junctions of the LPL gene were examined. Heterozygous P207L found in the HTG group was the first case reported in Asia and subsequently another P207L heterozygote was found in the proband's family, all of which suggested that P207L was one of the causes of familial combined hyperlipidemia, but was not so prevalent as that in French Canadian. Int3/3'-ass/C(-6)→T was found in both groups in the present study although it was regarded as a pathogenic variant to HTG earlier on. Moreover about the beneficial polymorphism S447X, there was also some supportive evidence that the levels of triglycerides (TG) in S447X carriers were significantly lower than noncarders in the subjects without HTG. Conclusions: The association between the LPL variants and HTG is quite complicated and versatile, genotyping of LPL in a larger-scale screening should be necessary and justifiable.展开更多
Background: Acute pancreatitis (AP) is an inflammatory process affecting the pancreas. Hypertriglyceridemic AP (HTAP) is its third leading cause after gallstones followed by alcohol use. It develops when stars align v...Background: Acute pancreatitis (AP) is an inflammatory process affecting the pancreas. Hypertriglyceridemic AP (HTAP) is its third leading cause after gallstones followed by alcohol use. It develops when stars align viz. triggers (acquired surges) in patients with genetic hypertriglyceridemia. Case: severe and acute pancreatitis had developed in a 57-year-old man with type IIb familial hyperlipidemia after heavy fatty meals. The acute phase was controlled by holding oral intake with weekly Evolocumab therapy and long-term prevention by weight reduction and Fenofibrate alone. His pancreatic endocrine and exocrine functions remained normal after 2 years of follow-up. Conclusion: Those four measures were safe, practical and effective for short- and long-term management of HTAP.展开更多
Myeloproliferative neoplasms(MPNs)occur due to the abnormal proliferation of one or more terminal myeloid cell lines in peripheral blood.Subjects suffering from MPNs display a high burden of cardiovascular risk factor...Myeloproliferative neoplasms(MPNs)occur due to the abnormal proliferation of one or more terminal myeloid cell lines in peripheral blood.Subjects suffering from MPNs display a high burden of cardiovascular risk factors,and thrombotic events are often the cause of death in this population of patients.Herein,we provide a brief overview of dyslipidemia and metabolic syndrome and their epidemiology in MPNs and examine the common molecular mechanisms between dyslipidemia,metabolic syndrome,and MPNs,with a special focus on cardio-vascular risk,atherosclerosis,and thrombotic events.Furthermore,we investigate the impact of dyslipidemia and metabolic syndrome on the occurrence and survival of thrombosis in MPN patients,as well as the management of dyslipidemia in MPNs,and the impact of MPN treatment on serum lipid concentrations,particularly as side/adverse effects reported in the context of clinical trials.展开更多
文摘BACKGROUND Xanthomatosis,a metabolic disorder causing yellow growths(xanthomas),poses challenges in lipid metabolism.This case study introduces the first documented instance within China's Yi population,emphasizing the need to explore dietary habits and treatment strategies tailored to this specific community.CASE SUMMARY Xanthomatosis is a metabolic disorder where lipid metabolism goes awry,resulting in the development of yellowish growths called xanthomas.A male patient,47 years of age,from China's Yi population,who is obese,visited our dermatology clinic complaining of widespread,non-painful rashes that have been present for two weeks.The patient works as a chef and has a diet that frequently includes oily and greasy foods.This case represents the initial documentation of xanthomatosis within the Yi population in China,offering a theoretical foundation for understanding dietary patterns and treatment options specific to the Yi community.CONCLUSION The first report of xanthomatosis in the Yi population in China lays a theoretical foundation for understanding Yi dietary patterns and treatment.
基金Supported by Shanxi Province“136”Revitalization Medical Project Construction Funds,No.2019XY004.
文摘BACKGROUND The neutrophil-to-lymphocyte ratio(NLR)and platelet-to-lymphocyte ratio(PLR)are novel inflammatory indicators that can be used to predict the severity and prognosis of various diseases.We categorize acute pancreatitis by etiology into acute biliary pancreatitis(ABP)and hypertriglyceridemia-induced acute pancreatitis(HTGP).AIM To investigate the clinical significance of NLR and PLR in assessing persistent organ failure(POF)in HTGP and ABP.METHODS A total of 1450 patients diagnosed with acute pancreatitis(AP)for the first time at Shanxi Bethune Hospital between January 2012 and January 2023 were enrolled.The patients were categorized into two groups according to the etiology of AP:ABP in 530 patients and HTGP in 241 patients.We collected and compared the clinical data of the patients,including NLR,PLR,and AP prognostic scoring systems,within 48 h of hospital admission.RESULTS The NLR(9.1 vs 6.9,P<0.001)and PLR(203.1 vs 160.5,P<0.001)were significantly higher in the ABP group than in the HTGP group.In the HTGP group,both NLR and PLR were significantly increased in patients with severe AP and those with a SOFA score≥3.Likewise,in the ABP group,NLR and PLR were significantly elevated in patients with severe AP,modified computed tomography severity index score≥4,Japanese Severity Score≥3,and modified Marshall score≥2.Moreover,NLR and PLR showed predictive value for the development of POF in both the ABP and HTGP groups.CONCLUSION NLR and PLR vary between ABP and HTGP,are strongly associated with AP prognostic scoring systems,and have predictive potential for the occurrence of POF in both ABP and HTGP.
文摘Background: Acute pancreatitis (AP) is an extensive inflammation condition that may lead to local and systemic complications, ranging from mild edematous peripancreatic fluid collection to multiorgan failure and death. Aim: To report the case of the patient with the complications that happened and the presented management. Case presentation: A 37-year-old female patient presented with acute necrotizing pancreatitis secondary to hypertriglyceridemia. During hospitalization, the patient developed severe ileus with splenic vein thrombosis. She was treated conservatively with Intravenous (IV) fluids, insulin infusion, anticoagulant, pain relief medication and antibiotics. Discussion: This case of pancreatitis induced splenic vein thrombosis (PIVST) was treated supportively with outstanding improvement of the patient’s symptoms. Conclusion: Acute pancreatitis can be complicated by splenic vein thrombosis that can be self-limited and treated with conservative measures.
基金This work was supported by the Grant from Tianjin Municipal Natural Science Foundations (No. 033607311).
文摘Objective: To investigate the association between the mutations in lipoprotein lipase gene and hypertriglyceridemia (HTG). Methods: The lipoprotein lipase (LPL) gene was screened for mutations in 386 Chinese subjects with (108 cases in the HTG group) or without HTG (278 cases in the control group), by single-strand conformation polymorphism (SSCP) analysis and DNA sequencing. Results: One novel silent mutation L103L, one missense mutation P207L, three splicing mutations Int3/3' -ass/C(-6)→T, and the common S447X polymorphism has been identified in the whole coding region and exon-intron junctions of the LPL gene were examined. Heterozygous P207L found in the HTG group was the first case reported in Asia and subsequently another P207L heterozygote was found in the proband's family, all of which suggested that P207L was one of the causes of familial combined hyperlipidemia, but was not so prevalent as that in French Canadian. Int3/3'-ass/C(-6)→T was found in both groups in the present study although it was regarded as a pathogenic variant to HTG earlier on. Moreover about the beneficial polymorphism S447X, there was also some supportive evidence that the levels of triglycerides (TG) in S447X carriers were significantly lower than noncarders in the subjects without HTG. Conclusions: The association between the LPL variants and HTG is quite complicated and versatile, genotyping of LPL in a larger-scale screening should be necessary and justifiable.
文摘Background: Acute pancreatitis (AP) is an inflammatory process affecting the pancreas. Hypertriglyceridemic AP (HTAP) is its third leading cause after gallstones followed by alcohol use. It develops when stars align viz. triggers (acquired surges) in patients with genetic hypertriglyceridemia. Case: severe and acute pancreatitis had developed in a 57-year-old man with type IIb familial hyperlipidemia after heavy fatty meals. The acute phase was controlled by holding oral intake with weekly Evolocumab therapy and long-term prevention by weight reduction and Fenofibrate alone. His pancreatic endocrine and exocrine functions remained normal after 2 years of follow-up. Conclusion: Those four measures were safe, practical and effective for short- and long-term management of HTAP.
基金Supported by the Grant Funded by Competitiveness Operational Programme A1.1.4.ID:P_37_798 MYELOAL-EDIAPROT(to Găman MA),No.149/26.10.2016(MySMIS2014+:106774).
文摘Myeloproliferative neoplasms(MPNs)occur due to the abnormal proliferation of one or more terminal myeloid cell lines in peripheral blood.Subjects suffering from MPNs display a high burden of cardiovascular risk factors,and thrombotic events are often the cause of death in this population of patients.Herein,we provide a brief overview of dyslipidemia and metabolic syndrome and their epidemiology in MPNs and examine the common molecular mechanisms between dyslipidemia,metabolic syndrome,and MPNs,with a special focus on cardio-vascular risk,atherosclerosis,and thrombotic events.Furthermore,we investigate the impact of dyslipidemia and metabolic syndrome on the occurrence and survival of thrombosis in MPN patients,as well as the management of dyslipidemia in MPNs,and the impact of MPN treatment on serum lipid concentrations,particularly as side/adverse effects reported in the context of clinical trials.