Two polymorphisms, rs755622 and rs5844572, in the promoter region of the macrophage migration inhibitory factor (MIF) gene influence the basal and/or induced transcriptional activity and have been linked to several inflammatory and autoimmune diseases. The aim of this study was to investigate the association between these two polymorphisms and disease susceptibility in patients with biliary atresia (BA). Allele frequencies of rs755622 and rs5844572 were assessed in 60 Egyptian infants with a confirmed diagnosis of BA. DNA was extracted from archival material. For the rs755622, samples were tested using Taqman real-time PCR, and for the rs5844572, samples were tested using fluorescence-based genotyping. The allele frequency in the general population was assessed in 141 healthy adults from the same geographical location. No statistical differences were observed in the allele frequencies of either rs755622 or rs5844572 between BA patients and controls. The homozygous and heterozygous short repeats (5/5, or 5/X) of rs5844572 were observed more frequently (16/28, 57.1%) in BA patients with mild to moderate fibrosis compared with those with marked fibrosis (10/32, 31.3%). The difference was statistically significant (P = 0.032). In conclusion, we observed no association between MIF rs755622 and rs5844572 polymorphisms and susceptibility to BA; however, the rs5844572 could be linked to the rate of progression of the disease and extent of fibrosis.
Aim of the study Biliary atresia (BA) is a fibro-inflammatory cholangiopathy of intra- and extrahepatic biliary radicles. The standard-of-care treatment is surgical restoration of bile flow by Kasai hepatoportoenterostomy (HPE). We aimed to identify the predictors of short-term outcome of the Kasai operation three months postoperatively. Material and methods This retrospective study included 107 infants diagnosed with BA by intraoperative cholangiography. All underwent a Kasai operation. The surgical outcome was classified after 3 months post-operatively as successful (bilirubin ≤ 2 mg/dl) or failed (bilirubin > 2 mg/dl). The two groups were compared according to basic clinical, ultrasonographic and histopathological characteristics. Results Of the studied patients 29 (27.1%) had a successful outcome while 78 (72.9%) had failed Kasai HPE. Of the preoperative characteristics, lower age and lower serum alkaline phosphatase (ALP) were significantly associated with successful surgical outcome ( p = 0.009 and < 0.0001, respectively). In addition, surgical type of BA affected the short-term outcome ( p = 0.017), while there was no statistically significant difference regarding the other studied parameters between groups. Age of 69.5 days or less was predictive of successful outcome with 74.4% specificity but with low sensitivity (58.6%), and ALP at a cutoff level of 532.5 U/l or less was predictive of successful outcome with 75.9% sensitivity and 74.4% specificity. Conclusions Younger age at the time of surgery and lower ALP are good predictors for the short-term outcome of Kasai HPE with better performance of ALP. This may help to anticipate those who can benefit from surgical correction and those who should be given high priority for transplant referral.
Background Early detection of biliary atresia (BA) is a great challenge providing the main useful way to improve its clinical consequence. Promising metabolomics provides an effective method for determining innovative biomarkers and biochemical ways for improving early diagnosis. This study aimed to determine the benefit of serum and urinary potential bile acid metabolites in the differentiation of BA from non-biliary atresia (non-BA) cases using tandem mass spectrometry (MS/MS). Fourteen bile acids metabolites were measured quantitively by MS/MS in serum and urine samples from 102 cholestatic infants and 102 control infants, in addition to the assay of the total serum bile acid enzymatically. Results After the diagnostic clinical and laboratory workflow, cholestatic infants were divided into BA (37 infants) and non-BA (65 infants) subgroups. Remarkably on analysis of serum individual bile acid concentrations, there were significant differences between cholestatic BA and non-BA regarding serum (glycocenodeoxycholic acid (GCDCA), taurochenodeoxycholic acid (TCDCA), taurocholic acid (TCA), and GCDCA/chenodeoxycholic acid (CDCA) ratio) (p < 0.001, for all), while there was no significant difference between the two groups regarding serum level of (cholic acid (CA), glycocholic (GCA), or TCDCA/CDCA ratio). There were no significant differences in either the urinary individual bile acids or urinary primary bile acids (conjugated or unconjugated) between BA and non-BA. Further principal component analysis (PCA) analysis was done and receiver operating characteristic (ROC) analysis was performed using score plots of the positive factors in the first two principal components PC1 (CA, GCA, GCDCA, TCA, TCDCA) and PC2 (CA, CDCA, lithocholic (LCA), ursodeoxycholic acid (UDCA)) for establishing the differences between the two diseased groups and revealed that the area under the curve (AUC) for PC1 was (0.770) higher than AUC for PC2 (0.583) indicating that the positive components of PC1 may be potential biomarkers for differentiation between the two cholestatic groups. Conclusions Metabolomics of serum bile acid levels using tandem mass spectrometry might change the paradigm differentiating BA from non-BA saving patients from unnecessary invasive procedures.
Background: In advanced biliary atresia, the majority of TGF-hepatic expression is restricted to hepatocytes. These results imply paracrine fibrogenesis-driven by TGF-β1 in advanced biliary atresia. Objective: To study the hepatic expression of TGF-β1 in biliary atresia (BA) as well as other causes of neonatal cholestasis. Patients and Methods: This study included sixty infants from those who attended to the
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