- SLC25A13 c.1610_1612delinsAT mutation in an Indian patient and literature review of 79 cases of citrin deficiency for genotype-phenotype associations. [Journal Article]
- GENEGene 2018 May 19
- Here, we report SLC25A13 c.1610_1612delinsAT mutation from India in a 13-year old boy who presented with recurrent episodes of delirium and hyperammonemia. This is the second case with this mutation;...
Here, we report SLC25A13 c.1610_1612delinsAT mutation from India in a 13-year old boy who presented with recurrent episodes of delirium and hyperammonemia. This is the second case with this mutation; the first case was of Pakistani origin. The boy responded to diet modification, sodium benzoate and arginine supplementation. Furthermore, we have aimed to establish genotype-phenotype correlation of 79 cases of citrin deficiency (46 males and 33 females) reported in 24 studies from all over the world. Inverse association was observed between age of onset and jaundice (r = -0.73). Late age of onset was associated with delirium (r = 0.61), aggressive behaviour (r = 0.67), altered sensorium (r = 0.67) and tremors (r = 0.65). The most common mutations associated with citrin deficiency were c.851_854del4, IVS16ins3kb, 1638-1660dup with a frequency of 42.41%, 16.46% and 6.33%, respectively. The c.851_854del4 mutation showed positive association with alpha feto protein (r = 0.40), ammonia (r = 0.50) and tyrosine (r = 0.40) while showing inverse association with threonine (r = -0.55). The IVS16ins3kb mutation was associated with high total (r = 0.65) and conjugated bilirubin (r = 0.54) along with high aspartate transaminase (r = 0.49) while citrulline levels are lower (r = -0.36). To conclude, all cases of intrahepatic cholestasis and neuropsychiatric abnormalities should be evaluated for citrin deficiency. However, the ethnic group-specific mutation frequencies should be considered in implementing for screening.
- Regulation of bile secretion by calcium signaling in health and disease. [Review]
- BBBiochim Biophys Acta 2018 May 19
- Calcium (Ca2+) signaling controls secretion in many types of cells and tissues. In the liver, Ca2+ regulates secretion in both hepatocytes, which are responsible for primary formation of bile, and ch...
Calcium (Ca2+) signaling controls secretion in many types of cells and tissues. In the liver, Ca2+ regulates secretion in both hepatocytes, which are responsible for primary formation of bile, and cholangiocytes, which line the biliary tree and further condition the bile before it is secreted. Cholestatic liver diseases, which are characterized by impaired bile secretion, may result from impaired Ca2+ signaling mechanisms in either hepatocytes or cholangiocytes. This review will discuss the Ca2+ signaling machinery and mechanisms responsible for regulation of secretion in both hepatocytes and cholangiocytes, and the pathophysiological changes in Ca2+ signaling that can occur in each of these cell types to result in cholestasis.
- Nutritive support for newborns in critical conditions: semi-elemental formilas as a means of enteral nutrition. [Journal Article]
- WLWiad Lek 2018; 71(2 pt 2):266-270
- CONCLUSIONS: Conclusions: In newborns in critical conditions, adaptation to the onset of enteral nutrition is accompanied by a catabolic direction of metabolism. The use of semi-elemental formulas increases the efficiency nutritional support in the intensive care of newborns.
- [Non-transplant surgical intervention in progressive familial intrahepatic cholestasis]. [Journal Article]
- ZEZhonghua Er Ke Za Zhi 2018 May 02; 56(5):392-395
- [Clinical and genetic analysis of eleven pediatric patients with Alagille syndrome]. [Journal Article]
- ZEZhonghua Er Ke Za Zhi 2018 May 02; 56(5):353-358
- Objective: To explore the clinical and molecular genetic features of patients with Alagille syndrome (AS). Methods: The clinical data of eleven pediatric patients, who were suspected to have AS at ...
Objective: To explore the clinical and molecular genetic features of patients with Alagille syndrome (AS). Methods: The clinical data of eleven pediatric patients, who were suspected to have AS at the Department of Pediatrics in the First Affiliated Hospital of Jinan University from August 2010 to March 2017, were collected and analyzed. Genomic DNA was extracted from peripheral blood leukocytes of the patients and their parents. For 5 patients collected before March 2006, all JAG1 exons and their flanking sequences were directly sequenced. For the remaining 6 patients, high-throughput gene capture technology, chromosomal microarray analysis (CMA) and whole-genome copy-number variant(CNV) analysis were utilized, when necessary, to explore the genetic causes. Results: All patients had cholestasis. However, the γ-glutamyl transpeptidase (GGT) levels in one patient were normal. Nine patients had posterior embryotoxon and facial malformations. Eight patients displayed heart defects. Seven patients presented with vertebral anomalies and among them, 1 patient had sacralization of the cubitus and radius. The condition of nine patients tended to be stabilized on follow-up, but 1 patient died of liver failure in late infancy and 1 got worse. Seven JAG1 variants were detected in 9 out of the 11 AS patients, with c.1977G>A (p.Trp659*) and c.1106_1107delCC (p.Pro369fs) being two novel variants. Two heterozygous interstitial deletions of 3.0 Mb and 9.24 Mb in size, respectively, in chromosome 20 were discovered in the remaining 2 patients. Both deletions involved the entire JAG1 gene. De novo origin was unveiled for the detected variants in 7 patients and interstitial deletions in two. Although the mother of 2 patients carried the relevant variant, she did not demonstrate any clinical features of AS. Conclusions: With cholestasis, posterior embryotoxon, facial malformations, heart defects and vertebral anomalies being the major manifestations, AS demonstrated variable clinical expressivities and incomplete penetrance. This study identified a total of 7 JAG1 variants as well as 2 interstitial deletions involving this gene, and among them, the variants c.1977G>A (p.Trp659* ) and c.1106_1107delCC (p.Pro369fs) as well as the 9.24 Mb chromosomal interstitial deletion had not been reported previously.
- Assessment of Intestinal Failure Associated Liver Disease according to different diagnostic criteria. [Journal Article]
- CNClin Nutr 2018 May 08
- CONCLUSIONS: This is the first study to systematically demonstrate that the frequency of IFALD varies greatly depending on diagnostic criteria used, confirming the need for a consensus definition to be used between different national and international IF units. IFALD can be present at HPN initiation but may resolve thereafter; further work is required to evaluate the factors associated with improvement.
- High mobility group box-1 drives fibrosis progression signaling via the receptor for advanced glycation end-products in mice. [Journal Article]
- HepHepatology 2018 May 18
- CONCLUSIONS: hepatocyte and KC-derived HMGB1 participates in the pathogenesis of liver fibrosis by signaling via RAGE in HSC to activate the pMEK1/2/pERK1/2/pcJun pathway and increase Collagen type I deposition. This article is protected by copyright. All rights reserved.
- Different options of endosonography-guided biliary drainage after endoscopic retrograde cholangio-pancreatography failure. [Journal Article]
- WJWorld J Gastrointest Endosc 2018 May 16; 10(5):99-108
- CONCLUSIONS: The choice of a particular EUS-BD technique should be based on patient's anatomy and on whether the guidewire could be passed through the duodenal papilla.
- Antioxidant Activity and Hepatoprotective Potential of Quercetin 7-Rhamnoside In Vitro and In Vivo. [Journal Article]
- MMolecules 2018 May 16; 23(5)
- Hypericum japonicum is traditionally used as a folk medicine to treat cholestasis and hepatitis. Quercetin 7-rhamnoside (Q7R) is one of the main flavonoid components of Hypericum japonicum and has be...
Hypericum japonicum is traditionally used as a folk medicine to treat cholestasis and hepatitis. Quercetin 7-rhamnoside (Q7R) is one of the main flavonoid components of Hypericum japonicum and has been rarely studied. The aim of the present study was to evaluate the antioxidant activity and hepatoprotective potential of Q7R. In the in vitro experiments, DPPH, ABTS and ferric reducing antioxidant power (FRAP) assays were first performed to assess the antioxidant properties of Q7R, and then a H₂O₂-induced oxidative damage cellular model was used to determine the cytoprotective and antioxidant properties of Q7R in human liver L-02 cells. In the in vivo experiment, the hepatoprotective activity of Q7R was evaluated by carbon tetrachloride (CCl₄)-induced liver damage model in mice. The results of the three in vitro assays (DPPH, ABTS and FRAP) demonstrated that Q7R significantly exhibited antioxidant activity. The cell experiment results showed that Q7R possessed cytoprotective and antioxidant effects on H₂O₂-treated L-02 cells. In the in vivo experiments, Q7R suppressed the up-regulation of serum activities of ALT, AST, LDH and triglyceride (TG) levels with dose-dependency. Q7R down-regulated the production of MDA and increased the hepatic GSH content and antioxidant enzymes CAT activities. Hepatic morphological analysis was also performed to confirm the biochemical changes. In summary, these results suggested that Q7R could be considered as a potential source of natural antioxidants, and may become a promising candidate for the treatment of liver injury in the future.
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- A multi-center preclinical study of gadoxetate DCE-MRI in rats as a biomarker of drug induced inhibition of liver transporter function. [Journal Article]
- PlosPLoS One 2018; 13(5):e0197213
- CONCLUSIONS: Rate constants of gadoxetate uptake and excretion are sensitive and robust biomarkers to detect early changes in hepatobiliary transporter function in vivo in rats prior to established biomarkers of liver toxicity.