Hemangioendothelioma ; complications ; Humans ; Infant, Newborn ; Kasabach-Merritt Syndrome ; complications ; Sarcoma, Kaposi ; complications

Objective To evaluate radiography with CO2 combined with contrast agents for endoscopic drainage of unresectable hilar cholangiocarcinoma. Methods Clinical data of 43 patients with unresectable hilar cholangiocarcinoma undergoing endoscopic drainage at the First Hospital of Lanzhou University from October 2010 to October 2015 were analyzed retrospectively. According to different contrast agents in radiography, patients were divided into the study group ( CO2 combined with contrast agent) and the control group ( contrast agent alone) . There were 23 cases in the study group and 20 cases in the control group. Total postoperative bilirubin(TBIL),white blood cell(WBC),procalcitonin(PCT)and the incidence of complications in the two groups were compared. Results The endoscopic procedure ranged from 50 min to 70 min. TBIL, WBC, PCT at 48 h and 72 h after operation in the study group were lower than those in the control group[48 h TBIL:(173. 42±66. 78) μmol/L VS (210. 81±78. 34) μmol/L,P=0. 025;72 h TBIL:(104. 64±56. 35) μmol/L VS (159. 33±59. 59) μmol/L, P=0. 023; 48 h WBC:(11. 51±7. 78)×109/L VS (15.83±6.67)×109/L, P=0.026; 72 h WBC:(10.92±5.64)×109/L VS (14.72±4.97)×109/L, P=0. 026; 48 h PCT:(0. 56±0. 18) ng/mL VS (1. 24±0. 73) ng/mL, P=0. 003; 72 h PCT:(0. 42± 0. 27) ng/mL VS (0. 90±0. 20) ng/mL, P=0. 001]. The incidence of postoperative cholangitis in the study group was lower than that in the control group [ 13. 0％( 3/23) VS 40％( 8/20) , P=0. 043] . Relatively low incidence of postoperative pancreatitis occurred in both groups, with no significant difference [ 4. 3％( 1/23) VS 10. 0％(2/20),P=0. 090]. Conclusion Radiography with CO2 combined with contrast agents during endoscopic drainage procedures for unresectable hilar cholangiocarcinoma is safe and effective, which could lower incidence of postoperative cholangitis.

OBJECTIVE: To detect variants of IVD gene among 4 neonates with suspected isovalerate acidemia in order to provide a guidance for clinical treatment. METHODS: 111 986 newborns and 7461 hospitalized children with suspected metabolic disorders were screened for acyl carnitine by tandem mass spectrometry. Those showing a significant increase in serum isovaleryl carnitine (C5) were analyzed for urinary organic acid and variants of the IVD gene. RESULTS: Four cases of isovalerate acidemia were detected, which included 2 asymptomatic newborns (0.018‰, 2/111 986) and 2 children suspected for metabolic genetic diseases (0.268‰, 2/7461). The formers had no obvious clinical symptoms. Analysis of acyl carnitine has suggested a significant increase in C5, and urinary organic acid analysis has shown an increase in isovaleryl glycine and 3-hydroxyisovalerate. Laboratory tests of the two hospitalized children revealed high blood ammonia, hyperglycemia, decreased red blood cells, white blood cells, platelets and metabolic acidosis. The main clinical manifestations have included sweaty foot-like odor, feeding difficulty, confusion, drowsiness, and coma. Eight variants (5 types) were detected, which included c.158G>A (p.Arg53His), c.214G>A (p.Asp72Asn), c.548C>T (p.Ala183Val), c.757A>G (p.Thr253Ala) and 1208A>G (p.Tyr403Cys). Among these, c.548C>T and c.757A>G were unreported previously. None of the variants was detected by next generation sequencing of 2095 healthy newborns, and all variants were predicted to be likely pathogenic based on the guidelines from the American College of Medical Genetics and Genomics. CONCLUSION The incidence of isovalerate acidemia in Liuzhou area is quite high. Screening of metabolic genetic diseases is therefore recommended for newborns with abnormal metabolism. The discovery of novel variants has enriched the mutational spectrum of the IVD gene.
Infant, Newborn ; Child ; Humans ; Acidosis ; Carnitine ; Erythrocytes ; High-Throughput Nucleotide Sequencing