Concurrence of novel mutations causing Gilbert's and Dubin-Johnson syndrome with poor clinical outcomes in a Han Chinese family.

Dual-hereditary jaundice (Dubin-Johnson syndrome (DJS) and Gilbert's syndrome (GS)) is a rare clinical entity resulting from defects of the ATP binding cassette subfamily C member 2 (ABCC2) and UDP glucuronosyltransferase family 1 member A1 (UGT1A1) genes with autosomal recessive inheritance. In this study, we aimed to investigate the mutation profiles and characterize the phenotypes in a Han Chinese family with DJS and GS. Genetic screening for variants in the ABCC2 and UGT1A1, immunohistochemistry for expression of ABCC2, and histopathological examination were carried out. The proband and his brother had unconjugated and conjugated hyperbilirubinemia after birth. The proband's sister had only conjugated hyperbilirubinemia after birth. The proband developed into pleural effusions and ascites, pericardial thickening, intrahepatic and extrahepatic biliary duct dilatation, and enlarged gallbladder at age 50. Hepatocellular carcinoma occurred in the proband's brother at age 46. Seven compound defects of the ABCC2 gene [c.2414delG, p.(Ile1489Gly), p.(Thr1490Pro), and p.(Ile1491Gln)] and the UGT1A1 gene (c.-3279T>G, p.(Gly71Arg), and p.(Pro451Leu)) were identified in family members. Accumulation of pigment in hepatocytes characteristic of that in DJS was present in the proband and his brother. Expression of ABCC2 protein was markedly diminished in the patient's liver. Our results show a different genetic profile of DJS and GS in a Han Chinese family, indicating a more complex pattern of dual-hereditary jaundice among different populations. The present study illuminates the underpinnings of DJS and GS and extends the mutation profiles and phenotypes of these two syndromes in dual-hereditary jaundice.

[Pathological grading analysis of liver biopsies in chronic hepatitis B virus carriers of different age ranges].

OBJECTIVE: To study the best time of taking liver biopsy for chronic HBV carriers of age ranges and then guiding antiretroviral treatment. METHOD: The liver biopsy pathologic results of 292 cases of chronic HBV carriers were collected from the First Affiliated Hospital of Kunming Medical College. The patients were divided into three groups according to ages. The differences between groups were compared by calculating the ratio of inflammation above G2 or fibrosis staging above S2. RESULT: The percentages of the chronic HBV carriers with liver histopathology inflammation graded above G2 or fibrosis staging above S2 were 26.5% (36/136) in 11 to 29 year-old group, 39.4% (37/94) in 30-39 year-old group and 58.1% (36/62) in 40-60 year-old group. Significant difference existed among groups in general (P less than 0.01). 39.4% (37/94) of chronic HBV carriers were found with inflammation graded above G2 or fibrosis staging above S2 in 30-39 year-old group, no statistically significant difference found between group 30-39 years old and group and 40-60 years old 58.1% (36/62) (P less than 0.01). 26.5% (36/136) of chronic HBV carriers under 30 years old were with inflammation graded above G2 or fibrosis staging above S2 as compared with the percentage of 46.8% (73/156) in the chronic HBV carriers over 30 years old group, and significant difference existed between the two groups (P less than 0.01). CONCLUSION: The best time choice of taking liver biopsy should be at the ages elder than or equal to 30.

The association of the heterogeneity of HBV reverse transcriptase quasispecies with antiviral efficacy after treatment with nucleos(t)ide analogues for 10 years.

To assess the heterogeneity of HBV reverse transcriptase (RT) quasispecies during 10 years of antiviral therapy and their association with antiviral efficacy. Nineteen patients with chronic hepatitis B (CHB) infection receiving nucleos(t)ide analogues (NAs) were enrolled. Based on the antiviral efficacy after 1 year of treatment, 5 patients were grouped into an early virologic response (EVR) group, while 8 patients were grouped into a late virologic response (LVR) group. Furthermore, 6 CHB patients that had undergone antiviral treatment for 10 years were grouped into a virologic breakthrough (VBT) group. The HBV RT from each patient were amplified, cloned, and sequenced. The complexity of the RT gene in the EVR group was significantly higher than that in the LVR (P = 0.0393) and VBT groups (P = 0.0141). Phylogenetic tree analysis showed that the average branch length of the EVR and LVR groups were significantly greater than that of VBT group (P < 0.001). The complexity (at the nucleotide level) of the RT quasispecies was negatively correlated with the corresponding HBV DNA load (P = 0.0163) at one year post-antiviral treatment. Moreover, both the LVR and VBT groups accumulated more deleterious mutations than the EVR group. After 1 year of NAs treatment, the increased HBV quasispecies complexity and evolutionary topologies, coupled with less deleterious mutations, are likely associated with a favorable efficacy during long-term antiviral treatment.

Performance of a novel vertical-flow settler: a comparative study.

By increasing particle concentration and G value (root-mean-square velocity gradient) to enhance flocculation, a novel vertical-flow settler was designed to increase sedimentation effectiveness, and to simultaneously improve operational stabilization. Due to the gradual decrease in upward flow-rate of raw water, a flocs blanket would form and suspend in the middle section of the settler, not at the bottom as in a conventional clarifier. Enough large flocs, resulted from flocculation or filtration, would continuously settle out of the flocs blanket, and simultaneously, the flocs in raw water or those forming above the blanket would ceaselessly enter the flocs blanket. As a result, the flocs concentration in the blanket could keep a dynamic balance. The hydrodynamic shear in the blanket was improved by flow separation, which was induced by the abrupt change in flow channel. Due to the floes blanket and improved hydrodynamic shear, flocculation would be enhanced, which was helpful for removing fine particles in raw water. A comparative study showed that the novel vertical-flow settler had a much better performance in the removal of the particles in raw water than a conventional one, when they treated kaolin suspensions of different concentrations (500, 100 and 50 mg/L, respectively) coagulated by polyaluminum chloride(PAC1) at the up-flow rates of I and 2 mm/s, respectively.

[Relationship between genetic lineage and pathotype of Pyricularia grisea in Yunnan Plateau].

Rice blast caused by Pyricularia grisea is the most destructive disease in Yunnan Plateau, China. In order to elucidate the relationship between genetic lineage and pathotype of P. grisea of Yunnan Plateau as well as the variability of the fungus at DNA level,the repetitive element-based PCR (rep-PCR) of Pot2, an element found in approximately 100 copies in the fungus genome,was exploited. Two hundred and thirty-six isolates of P. grisea collected from 15 main rice-growing counties of Yunnan Plateau were fingerprinted by using rep-PCR. A linkage graph of the rep-PCR fingerprints from 134 representative isolates was generated using an unweighted pair-grouped average program (UPGMA) of the STATISTICAL 5.0 software. The isolates were classified into 8 genetic lineages (G1 approximately G8) at the level of 1.75 genetic linkage distance, of which the G1, G2 and G4 were the dominant lineages. The isolates in a certain area generally belonged to one correspondent genetic lineage and the isolates from the same plot and host rice variety mostly shared one linkage group though different genetic lineages within one lesion. Furthermore, 29 isolates representing the eight genetic lineages were inoculated on 33 rice cultivars of Yunnan at the stage of 3 approximately 4 leaves in greenhouse. The isolates were divided into 6 pathotype groups (P1 approximately P6) according to its compatibility, which demonstrated that some isolates of one genetic lineage sharing two or three pathotype groups, alternatively, one or four pathotype groups. The isolates from each genetic lineage, however, may share one pathotype group such as P2. The preliminary results implicated that the relationship between genetic lineages and pathotype groups of P. grisea in Yunnan Plateau was complicated rather than simple. On the other hand,2 rice cultivars including HeXi 16 and JingGuo 92 were resistant to the 29 isolates but YunJing 20 and HeXi 30 both susceptible to all of them, which was helpful for deploying the blast-resistant genes in rice production of Yunnan Plateau. Therefore, the rice blast-resistance spectrum of the tentative new rice cultivars should be evaluated before its release considering the blast-resistant rice breeding and the practice of rice production in Yunnan Plateau.

[Electrocatalytic reduction of nitrate from drinking water by porous titanium loaded Pd-Cu cathode].

We investigated performances as well as influencing factors of electrocatalytic denitrification of a porous titanium loaded Pd-Cu (4:1) cathode, from drinking water. Up to 96.9% of NO3(-)-N may be reduced to N2 with electrocatalytic activity as 16.69 mg/ (g x h). The Nitrate reduction presented an apparent first order reaction at lower nitrate concentration, while a zero order reaction at higher nitrate concentration. Little nitrate reduction was observed when cell voltage (or current) was lower than 1.5 V (or 5 mA); the side reaction of ammonium production became noticeable if the cell voltage (or current) was higher than 4.2 V (or 30 mA). Both the activity and the selectivity were good at a neutral pH; at acidic pH, the activity increased while the selectivity decreased. Mass transfer in solution was found little effect on the reactions in the tests. Other anions such as ClO4-, HCO3-, Cl- did somewhat harms to NO3(-)-N removal with sequence of ClO4- < HCO3- < Cl-.

[Electrochemical hydrodehalogenation of pentachloraphenol in aqueous solution by porous titanium loaded Pd cathode].

A study on electrochemical hydrodehalogenation of pentachloraphenol in aqueous solutions was conducted on porous titanium loaded Pd cathode and the operational parameters were investigated. Chloride ions and phenol is the main products analyzed by GC-MS. Up to 100% electrochemical hydrodehalogenation can be achieved with more than 90% conversion to phenol. The result showed that current in the circle play the most important role of dehalogenation while the best parameter is 300mA in this study. Compared to current, the effect of pH value and flow rate on the current efficiency and energy consumption of dehalogenation is limited. Complete dehalogenation, high current efficiency, low energy consumption and operational convenience confirm the feasibility of this method.