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Objective@#Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a common birth defect with its genetic evidence widely explored. This study explored the potential the parent-of-origin (PoO) effect of WNT pathway on the risks of NSCL/P, using a case-parent trio design.@*Methods@#Data on the single nucleotide polymorphism (SNP) of WNT genes were selected from a genome-wide association study (GWAS). A total of 806 Chinese non-syndromic cleft lip patients, with or without cleft palate (NSCL/P) case-parent trios, were gathered from an international consortium. PoO effect of WNT pathway genes and its haplotypes were explored by log-linear models. Additional Wald tests were performed to assess: a) the heterogeneity of PoO effect between different maternal exposures, b) the interaction between PoO effect, c) maternal exposure to environmental tobacco smoke (ETS), and d) multivitamin supplementation during pregnancy. The threshold for statistical significance was adjusted as 3.47×10-4, according to Bonferroni correction.@*Results@#After quality control, a total of 144 SNPs within seven genes were included for analyses, among which 8 SNPs were of potential PoO effect (P<0.05). However, none of them achieved the statistical significance after Bonferroni correction. The haplotype rs4074668-rs12725747 (T-A) on WNT9A showed significant PoO effect, based on the haplotype test for PoO (P=2.74×10-4). In addition, no statistically significant interaction was found in further exploration of this haplotype under environmental exposures as ETS or multivitamin supplementation.@*Conclusions@#Genes in the WNT pathway may influence the NSCL/P risks through the potential PoO effect. Particularly, the haplotype rs4074668-rs12725747 (T-A) on WNT9A presented significant PoO effect on NSCL/P, statistically. From this current study, findings on WNT pathway related risks among the NSCL/P, need to be further validated by independent samples in the future.
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Objective To discuss the impact of a immunosuppressive protocol using tacrolimus combined with mycophenolate without steroid on glycometabolism after liver tansplantation (LT).Methods 295 adult liver transplant recipients were under investigation and divided into two groups,to receive immunosuppression therapy using tacrolimus and mycophenolate with (n =142) or without steroid (n =153).The fasting blood-glucose level,rate of hyperglycemia,infection and metabolic complications were followed up at 1st,2nd,4th,8th,12th,16th,20th and 24th week after LT.Results There were no significant differences between two groups in gender,age.body weight and FBG level before LT.In both groups,the FBG levels were significantly elevated immediately and reached the peak at 1st week after LT,then gradually decreased over time post-LT.The FBG level and rate of hypcrglycemia were significantly lower in steroid-free group than in steroid group in each observation time point with the differences being significant (P＜0.05) at 4th week post-LT.The overall rate of hyperglycemia was 52.9％ in steroid free group and 76.8％ in steroid group with the difference being significant between the two groups (P＜0.05) and a risk ratio of 2.94 (steroid-free group versus steroid group).The rate of acute rejection was slightly higher in steroid-free group (8.50 ％ ) than in steroid group (7.75％ ) (P ＞ 0.05 ).Also the incidence of intention badness,infection and hypercholesterinemia was significantly lower in steroid group than in steroid-free group.Conclusion The immunosuppressive protocol without steroids is safe and effective of reducing the risk of hyperglycemia and metabolic complications after LT.
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Objective To investigate the value of urinary neutrophil gelatinase-associated lipocalin (NGAL) and liver-type fatty acid-binding proteins (L-FABP) in early diagnosis of acute kidney injury (AKI) after liver transplantation. Methods During 2007-2008, 25 liver transplant recipients were recruited. Blood and urinary samples were collected before operation and at 2, 4, 6,12, 24, 48, 72, 120 h after portal vein opening, and used to determine serum creatinine (Scr), as well as urinary NGAL and L-FABP, which were normalized to urinary creatinine. According to the Acute Kidney Injury Network (AKIN) criteria of AKI, all the patients were divided into AKI and non-AKI groups. Standard statistics were used along with ROC analysis to evaluate the diagnose value of selected markers. Results There were no significant differences in clinical parameters between non-AKI (n=14) and AKI (n=11) groups. Both groups had a transient rise in Scr 2-12 hours after surgery, but the rise lasted longer in AKI patients (2-24 hours). While urinary L-FABP rose transiently in both groups 2-120 hours following surgery, urinary NGAL was only slightly elevated at 2 h in the non-AKI group, but rose and stayed high from 2 to 6 h in the AKI group.ROC analysis revealed that NGAL (cut-off 43.02, 26.97 and 17.19 ng/mgCr, AUC 0.766, 0.773 and 0.773 at 2, 4 and 6 h, respectively) was better than L-FABP (cut-off 3451.75 ng/mgCr, AUC 0.760 at 4 h). Conclusion Urinary NGAL appears to be a sensitive and specific marker of AKI in liver transplant recipients, but these data need to be validated in larger prospective studies.
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Objective To investigate the incidence of acute kidney injury (AKI) post-orthotopic liver transplant (OLT) and its association with prognosis. Methods Data of 28 patients received single OLT in our hospital from 2004 to 2006 were retrospectively analyzed. The incidence of AKI was investigated by new acute kidney injury network (AKIN) criteria. The follow-up was over one year. The prognosis of AKI patients at day 28 and 1 year was evaluated by Kaplan-Meier survival analysis. The association between AKI and prognosis was examined. Results A total of 193 patients were enrolled. The average age was (48.07±10.02) years old. The ratio of male to female was 4:1. One hundred and sixteen (60.1%) patients of post-OLT AKI were found, whose AKI stage 1, 2 and 3 were 50.0%, 21.6% and 28.4% respectively. Ten (8.6%) patients required renal replacement therapy (RRT) after OLT. In AKI post-OLT patients, day 28 and 1 year mortality were significantly higher than those in non-AKI patients (15.5% vs 0, 25.9% vs 3.9%, respectively, both P<0.05). Kaplan-Meier survival analysis showed the 1-year survival rates of AKI stage 1, 2, 3 post-OLT and non-AKl were 84.0%, 81.0%, 42.4% and 90.9%, respectively. The 1-year survival rate of non-AKI was significantly higher than that of AKI stage 1, 2, 3. The 1-year survival rate of AKI stage 3 was significantly lower than that of stage 1 and 2. There was no significant difference between AKI stage 1 and 2. Sct at 1 year post-OLT was significantly higher than that of baseline [(88.35±37.15) vs (73.70±33.88) μmol/L, P<0.05). The change of Scr value at 1 year compared to baseline in AKI patients was similar to non-AKI patients. However such change in AKI stage 2 and 3 was higher than that in stage 1. Conclusions The incidence of AKI post-OLT is quite high and associated to the poor prognosis in short and long periods. Renal function may decrease gradually which is associated to the AKI stage pest-OLTI.