Galactosemia is an autosomal recessive disorder caused by deficient or absent activities of one of the three enzymes involved in the galactose metabolic pathway. The predominant form is classic type galactosemia cause...Galactosemia is an autosomal recessive disorder caused by deficient or absent activities of one of the three enzymes involved in the galactose metabolic pathway. The predominant form is classic type galactosemia caused by severe reduction or absence of the galactose- 1-phosphate uridyl transferase (GALT) enzyme. Coexistence of extrahepatic biliary atresia (EHBA) with Duarte 1 and 2 variants of galactosemia has not been described earlier. Here we report a case of EHBA with concordant Duarte 1 and 2 variants of galactosemia in an infant with cholestasis. Genetic analysis of the index patient for galactosemia revealed presence of Duarte 1/Duarte 2 variants of galactosemia with genotype N314D-L218L/N314D-G1105C-GI391A- G1323A-5’UTR-119delGTCA. Clinical evaluation of the patient showed the presence of EHBA. Henceforth, it may be hypothesized that EHBA may have a genetic basis with simultaneous involvement of the GALT gene.展开更多
BACKGROUND Acute pancreatitis(AP),a severe pancreatic inflammatory condition,with a mor-tality rate reaching up to 40%.Recently,AP shows a steadily elevating prevalence,which causes the greater number of hospital admi...BACKGROUND Acute pancreatitis(AP),a severe pancreatic inflammatory condition,with a mor-tality rate reaching up to 40%.Recently,AP shows a steadily elevating prevalence,which causes the greater number of hospital admissions,imposing the substantial economic burden.Acute kidney injury(AKI)complicates take up approximately 15%of AP cases,with an associated mortality rate of 74.7%-81%.AIM To evaluate the efficacy of estimated plasma volume status(ePVS)in forecasting AKI in patients with AP.METHODS In this retrospective cohort study,AP cases were recruited from the First College of Clinical Medical Science of China Three Gorges University between January 2019 and October 2023.Electronic medical records were adopted for data extrac-tion,including demographic data and clinical characteristics.The association between ePVS and AKI was analyzed using multivariate logistic regression models,with potential confounders being adjusted.Nonlinear relationship was examined with smooth curve fitting,and infection points were calculated.Further analyses were performed on stratified subgroups and interaction tests were conducted.RESULTS Among the 1508 AP patients,251(16.6%)developed AKI.ePVS was calculated using Duarte(D-ePVS)and Kaplan-Hakim(KH-ePVS)formulas.After adjusting for covariates,the AKI risk exhibited 46%[odds ratio(OR)=1.46,95%confidence interval(CI):0.96-2.24]and 11%(OR=1.11,95%CI:0.72-1.72)increases in the low tertile(T1)of D-ePVS and KH-ePVS,respectively,and 101%(OR=2.01,95%CI:1.31-3.05)and 51%(OR=1.51,95%CI:1.00-2.29)increases in the high tertile(T3)relative to the reference tertile(T2).Nonlinear curve fitting revealed a U-shaped association of D-ePVS with AKI and a J-shaped association for KH-ePVS,with inflection points at 4.3 dL/g and-2.8%,res-pectively.Significant interactions were not observed in age,gender,hypertension,diabetes mellitus,sequential organ failure assessment score,or AP severity(all P for interaction>0.05).CONCLUSION Our results indicated that ePVS demonstrated the nonlinear association with AKI incidence in AP patients.A U-shaped curve was observed with an inflection point at 4.3 dL/g for the Duarte formula,and a J-shaped curve at-2.8%for the Kaplan-Hakim formula.展开更多
文摘Galactosemia is an autosomal recessive disorder caused by deficient or absent activities of one of the three enzymes involved in the galactose metabolic pathway. The predominant form is classic type galactosemia caused by severe reduction or absence of the galactose- 1-phosphate uridyl transferase (GALT) enzyme. Coexistence of extrahepatic biliary atresia (EHBA) with Duarte 1 and 2 variants of galactosemia has not been described earlier. Here we report a case of EHBA with concordant Duarte 1 and 2 variants of galactosemia in an infant with cholestasis. Genetic analysis of the index patient for galactosemia revealed presence of Duarte 1/Duarte 2 variants of galactosemia with genotype N314D-L218L/N314D-G1105C-GI391A- G1323A-5’UTR-119delGTCA. Clinical evaluation of the patient showed the presence of EHBA. Henceforth, it may be hypothesized that EHBA may have a genetic basis with simultaneous involvement of the GALT gene.
文摘BACKGROUND Acute pancreatitis(AP),a severe pancreatic inflammatory condition,with a mor-tality rate reaching up to 40%.Recently,AP shows a steadily elevating prevalence,which causes the greater number of hospital admissions,imposing the substantial economic burden.Acute kidney injury(AKI)complicates take up approximately 15%of AP cases,with an associated mortality rate of 74.7%-81%.AIM To evaluate the efficacy of estimated plasma volume status(ePVS)in forecasting AKI in patients with AP.METHODS In this retrospective cohort study,AP cases were recruited from the First College of Clinical Medical Science of China Three Gorges University between January 2019 and October 2023.Electronic medical records were adopted for data extrac-tion,including demographic data and clinical characteristics.The association between ePVS and AKI was analyzed using multivariate logistic regression models,with potential confounders being adjusted.Nonlinear relationship was examined with smooth curve fitting,and infection points were calculated.Further analyses were performed on stratified subgroups and interaction tests were conducted.RESULTS Among the 1508 AP patients,251(16.6%)developed AKI.ePVS was calculated using Duarte(D-ePVS)and Kaplan-Hakim(KH-ePVS)formulas.After adjusting for covariates,the AKI risk exhibited 46%[odds ratio(OR)=1.46,95%confidence interval(CI):0.96-2.24]and 11%(OR=1.11,95%CI:0.72-1.72)increases in the low tertile(T1)of D-ePVS and KH-ePVS,respectively,and 101%(OR=2.01,95%CI:1.31-3.05)and 51%(OR=1.51,95%CI:1.00-2.29)increases in the high tertile(T3)relative to the reference tertile(T2).Nonlinear curve fitting revealed a U-shaped association of D-ePVS with AKI and a J-shaped association for KH-ePVS,with inflection points at 4.3 dL/g and-2.8%,res-pectively.Significant interactions were not observed in age,gender,hypertension,diabetes mellitus,sequential organ failure assessment score,or AP severity(all P for interaction>0.05).CONCLUSION Our results indicated that ePVS demonstrated the nonlinear association with AKI incidence in AP patients.A U-shaped curve was observed with an inflection point at 4.3 dL/g for the Duarte formula,and a J-shaped curve at-2.8%for the Kaplan-Hakim formula.
