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Intrahepatic Cholestasis

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https://www.readbyqxmd.com/read/29039163/-screening-for-amino-acid-metabolic-disorders-of-newborns-in-zhejiang-province-prevalence-outcome-and-follow-up
#1
Xinwen Huang, Yu Zhang, Fang Hong, Jing Zheng, Jianbin Yang, Fan Tong, Huaqing Mao, Xiaolei Huang, Xuelian Zhou, Rulai Yang, Zhengyan Zhao
OBJECTIVE: To analyze the result and follow-up data of screening for newborn amino acid metabolic disorders in Zhejiang province. METHODS: A total of 1 861 262 newborns were screened for amino acid metabolic disorders during January 2009 and December 2016 in Zhejiang province. The screening results and the follow-up data were analyzed retrospectively. RESULTS: One hundred and sixty four cases were diagnosed as amino acid metabolic disorders with a prevalence of 1:11 349, including 83 with hyperphenylalaninaemia (1:22 400), 29 with neonatal intrahepatic cholestasis caused by citrin deficiency (1:64 138), 16 with methionine S-adenosyltransferase deficiency (1:116 250), 9 with maple syrup urine disease (1:206 667), 8 with argininemia (1:232 500), 7 with citrullinemia type Ⅰ (1:265 700), 6 with hyperprolinemia type Ⅰ (1:310 000), and 2 with carbamylphosphate synthetase Ⅰ deficiency(1:930 000)...
May 25, 2017: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
https://www.readbyqxmd.com/read/29023905/cholangiopathy-in-critically-ill-patients-surviving-beyond-the-intensive-care-period-a-multicentre-survey-in-liver-units
#2
L Laurent, C Lemaitre, A Minello, A Plessier, G Lamblin, A Poujol-Robert, A Gervais-Hasenknopf, E-A Pariente, P Belenotti, N Mostefa-Kara, P Sogni, M Legrand, J-M Cournac, F Tamion, G Savoye, P Bedossa, D-C Valla, V Vilgrain, O Goria
BACKGROUND: The outcome of cholangiopathy developing in intensive care unit (ICU) is not known in patients surviving their ICU stay. AIM: To perform a survey in liver units, in order to clarify the course of cholangiopathy after surviving ICU stay. METHODS: The files of the liver units affiliated to the French network for vascular liver disease were screened for cases of ICU cholangiopathy developing in patients with normal liver function tests on ICU admission, and no prior history of liver disease...
October 11, 2017: Alimentary Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/29023813/dual-catenin-loss-in-murine-liver-causes-tight-junctional-deregulation-and-progressive-intrahepatic-cholestasis
#3
Tirthadipa Pradhan-Sundd, Lili Zhou, Ravi Vats, An Jiang, Laura Molina, Sucha Singh, Minakshi Poddar, Jacquelyn M Russell, Donna B Stolz, Michael Oertel, Udayan Apte, Simon Watkins, Sarangarajan Ranganathan, Kari N Nejak-Bowen, Prithu Sundd, Satdarshan Pal Monga
β-Catenin, the downstream effector of the Wnt signaling, plays important roles in hepatic development, regeneration and tumorigenesis. However, its role at hepatocyte adherens junctions (AJ) is relatively poorly understood, chiefly due to spontaneous compensation by γ-catenin. Here, we simultaneously ablate β- and γ-catenin expression in mouse liver by interbreeding β-catenin-γ-catenin double-floxed mice and albumin-cre transgenic mice. Double knockout mice (DKO) show failure to thrive, impaired hepatocyte differentiation, cholemia, ductular reaction, progressive cholestasis, inflammation, fibrosis and tumorigenesis, which was associated with deregulation of tight junctions (TJ) and bile acid transporters, leading to early morbidity and mortality, a phenotype reminiscent of Progressive Familial Intrahepatic Cholestasis (PFIC)...
October 10, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/29020816/predictors-of-adverse-perinatal-outcomes-in-intrahepatic-cholestasis-of-pregnancy-with-dichorionic-diamniotic-twin-pregnancies
#4
Youwen Mei, Lan Gao, Yonghong Lin, Dan Luo, Xine Zhou, Li He
OBJECTIVE: The aim of our study was to investigate the predictors of adverse perinatal outcomes in intrahepatic cholestasis of pregnancy (ICP) with dichorionic diamniotic (DCDA) twin pregnancies. METHODS: This study was a retrospective study of women diagnosed with ICP and DCDA twin pregnancies in Chengdu's women and children's central hospital. These patients were subdivided into mild and severe ICP groups according to total bile acid (TBA) level. The clinical characteristics and perinatal outcomes were collected and compared between the two groups...
October 11, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28994348/from-pathogenesis-to-novel-therapies-in-the-treatment-of-primary-biliary-cholangitis
#5
Vincenzo Ronca, Marco Carbone, Francesca Bernuzzi, Federica Malinverno, Hani S Mousa, M Eric Gershwin, Pietro Invernizzi
Primary biliary cholangitis (PBC) is an immune-mediated liver disease characterized by chronic inflammation of the intrahepatic bile ducts, causing progressive ductopenia, cholestasis and fibrosis, and leading to liver failure. Ursodeoxycholic acid (UDCA) is the first-line therapy for the treatment of PBC patients. This is effective in majority of patients; however, up to 20 percent of patients have an incomplete response to UDCA therapy and have a reduced prognosis as compared to healthy individuals. Obeticholic acid (OCA) has been recently registered as second-line therapy for patients with incomplete response to UDCA, with plans to demonstrate the long-term clinical efficacy...
October 10, 2017: Expert Review of Clinical Immunology
https://www.readbyqxmd.com/read/28987776/bile-acid-profiles-in-neonatal-intrahepatic-cholestasis-caused-by-citrin-deficiency
#6
Ching-Hsuan Yang, Chiung-Yu Chen, Yen-Yin Chou, Hung-Chih Chiu, Wei-Lun Tsai, Shu-Chu Shiesh
BACKGROUND: Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is characterized by conjugated hyperbilirubinemia and increased plasma bile acid concentrations. However, the underlying mechanisms remain unclear. We established a liquid chromatography tandem mass spectrometry (LC-MS/MS) method for simultaneously quantifying plasma bile acids and examined bile acid profiles in NICCD infants. METHODS: We measured 15 bile acids within 15min and found a wide linear range for individual bile acids...
October 4, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28987255/genetic-testing-in-liver-disease-what-to-order-in-whom-and-when
#7
REVIEW
Emily A Schonfeld, Robert S Brown
Genetic causes of liver disease lead to a wide range of presentations, from mildly abnormal liver tests to acute liver failure. This article discusses the indications for testing and what to test for hereditary hemochromatosis, progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis, lysosomal acid lipase deficiency, Gilbert syndrome, alpha-1 antitrypsin deficiency, and Wilson disease.
November 2017: Clinics in Liver Disease
https://www.readbyqxmd.com/read/28982379/correction-to-dubin-johnson-syndrome-and-intrahepatic-cholestasis-of-pregnancy-in-a-sri-lankan-family-a-case-report
#8
Grace Angeline Malarnangai Kularatnam, Hewa Dilanthi Warawitage, Dinesha Maduri Vidanapathirana, Subashini Jayasena, Eresha Jasinge, Ginige Nalika Nirmalene de Silva, Kirinda Liyana Arachchige Manoj Sanjeeva Liyanarachchi, Pujitha Wickramasinghe, Manjit Singh Devgun, Veronique Barbu, Olivier Lascols
Following publication of the original article [1], the authors requested the following corrections: 1. Author 2-given name should be Dilanthi and family name Warawitage. 2. Author 6-given name should be Nalika and family name de Silva.
October 5, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28981931/-mutational-analysis-of-ass1-asl-and-slc25a13-genes-in-six-chinese-patients-with-citrullinemia
#9
Yiming Lin, Ke Yu, Lufeng Li, Zhenzhu Zheng, Weihua Lin, Qingliu Fu
OBJECTIVE: To detect potential mutations in six patients with citrullinemia. METHODS: Genomic DNA was extracted from peripheral blood samples from the patients. Mutations of the ASS1, ASL and SLC25A13 genes were screened using microarray genotyping combined with direct sequencing. RESULTS: One patient was diagnosed with argininosuccinate lyase deficiency, and has carried a homozygous c.1311T>G (p.Y437*) mutation of the ASL gene. The remaining five patients were diagnosed with neonatal intrahepatic cholestasis due to citrin deficiency, and have respectively carried mutations of the SLC25A13 gene including [c...
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28965883/nuclear-receptor-fxr-bile-acids-and-liver-damage-introducing-the-progressive-familial-intrahepatic-cholestasis-with-fxr-mutations
#10
REVIEW
Marica Cariello, Elena Piccinin, Oihane Garcia-Irigoyen, Carlo Sabbà, Antonio Moschetta
The nuclear receptor farnesoid X receptor (FXR) is the master regulator of bile acids (BAs) homeostasis since it transcriptionally drives modulation of BA synthesis, influx, efflux, and detoxification along the enterohepatic axis. Due to its crucial role, FXR alterations are involved in the progression of a plethora of BAs associated inflammatory disorders in the liver and in the gut. The involvement of the FXR pathway in cholestasis development and management has been elucidated so far with a direct role of FXR activating therapy in this condition...
September 28, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28945205/post-transplant-recurrent-bile-salt-export-pump-disease-a-form-of-antibody-mediated-graft-dysfunction-and-utilization-of-c4d
#11
Kalyani R Patel, Sanjiv Harpavat, Milton Finegold, Karen Eldin, John Hicks, Mihail Firan, Verena Keitel, Ralf Kubitz, Hao Wu
Recurrent bile salt export pump (rBSEP) disease has been reported in progressive familial intrahepatic cholestasis type 2 (PFIC2) patients following liver transplantation (LT) and is often refractory to standard anti-cellular rejection immunosuppressants. The mechanism of rBSEP disease is proposed to be a form of type II hypersensitivity reaction with de novo anti-BSEP antibodies blocking the function of allograft BSEP. Utilization of C4d has not been evaluated in rBSEP. We describe a girl with 3 episodes of rBSEP with severe pruritus at 8...
October 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28937026/intrahepatic-cholestasis-in-two-omani-siblings-associated-with-a-novel-homozygous-atp8b1-mutation-c-379c-g-p-l127v
#12
Hassib Narchi, Suhailah Alhefeiti, Fatmah Althabahi, Jozef Hertecant, A S Knisely, Abdul-Kader Souid
We report two Omani brothers with intrahepatic cholestasis that resolved with supportive care. In one, cholestasis began in infancy; in the other, only at the age of 18 months. Whole exome sequencing identified a novel homozygous variant, c.379C>G (p.L127V) in ATP8B1. Those attending patients with cholestasis from the Arabian peninsula should be aware of this mutation and of the variation in its phenotypic effects.
September 2017: Saudi Journal of Gastroenterology: Official Journal of the Saudi Gastroenterology Association
https://www.readbyqxmd.com/read/28934223/ursodeoxycholic-acid-prevents-ventricular-conduction-slowing-and-arrhythmia-by-restoring-t-type-calcium-current-in-fetuses-during-cholestasis
#13
Oladipupo Adeyemi, Anita Alvarez-Laviada, Francisca Schultz, Effendi Ibrahim, Michael Trauner, Catherine Williamson, Alexey V Glukhov, Julia Gorelik
BACKGROUND: Increased maternal serum bile acid concentrations in intrahepatic cholestasis of pregnancy (ICP) are associated with fetal cardiac arrhythmias. Ursodeoxycholic acid (UDCA) has been shown to demonstrate anti-arrhythmic properties via preventing ICP-associated cardiac conduction slowing and development of reentrant arrhythmias, although the cellular mechanism is still being elucidated. METHODS: High-resolution fluorescent optical mapping of electrical activity and electrocardiogram measurements were used to characterize effects of UDCA on one-day-old neonatal and adult female Langendorff-perfused rat hearts...
2017: PloS One
https://www.readbyqxmd.com/read/28933123/-meta-analysis-of-yinzhihuang-oral-liquid-in-treatment-of-intrahepatic-cholestasis-of-pregnancy
#14
Jing-Jing Yan, Xiao-Ping Xia, Na Bu
To systematically review the clinical efficacy and safety of Yinzhihuang oral liquid in the treatment of intrahepatic cholestasis of pregnancy(ICP). Literatures published by June 2016 were searched in databases, such as Medline, Pubmed, Cochrane Library, China National Knowledge Infrastructure(CNKI), Chinese Scientific Journals Full-text Database(VIP), Chinese biomedical literature database(CBM), and Wanfang Database. Randomized controlled trials(RCT) of Yinzhihuang oral liquid were collected according to the inclusion criteria, and the methodological quality of selected literatures was evaluated...
December 2016: Zhongguo Zhong Yao za Zhi, Zhongguo Zhongyao Zazhi, China Journal of Chinese Materia Medica
https://www.readbyqxmd.com/read/28928138/progressive-and-preferential-cellular-accumulation-of-hydrophobic-bile-acids-induced-by-cholestatic-drugs-is-associated-with-inhibition-of-their-amidation-and-sulfation
#15
Ahmad Sharanek, Audrey Burban, Lydie Humbert, Christiane Guguen-Guillouzo, Dominique Rainteau, Andre Guillouzo
Drug-induced intrahepatic cholestasis is characterized by cellular accumulation of bile acids (BA) whose mechanisms remain poorly understood. The present study aimed to analyze early and progressive alterations of BA profiles induced by cyclosporine A, chlorpromazine, troglitazone, tolcapone, trovafloxacin and tacrolimus after 4h, 24h and 6 daily treatments of differentiated HepaRG cells. In BA-free medium the potent cholestatic drugs, cyclosporine A, chlorpromazine and troglitazone, reduced endogenous BA synthesis after 24h, while the rarely cholestatic drugs, tolcapone, trovafloxacin and tacrolimus, reduced BA synthesis only after 6 days...
September 19, 2017: Drug Metabolism and Disposition: the Biological Fate of Chemicals
https://www.readbyqxmd.com/read/28926728/a-retrospective-cohort-review-of-intrahepatic-cholestasis-of-pregnancy-in-a-south-australian-population
#16
Jessica A Marathe, Wei How Lim, Michael P Metz, Wendy Scheil, Gustaaf A Dekker, William M Hague
OBJECTIVE: To review the management and outcomes of Intrahepatic Cholestasis of Pregnancy (ICP) in South Australia (SA) over the past decade. DESIGN: Retrospective cohort review. SETTING: Public clinics at two teaching hospitals in SA. POPULATION: All pregnancies associated with ICP (defined as pruritus with serum bile acids≥10μmol/L) managed 2001-2010. METHODS: Identification of subjects (laboratory database), detailed chart-review to ascertain demographics, maternal/perinatal outcomes and associated pregnancy comorbidities, analysis of mild/severe disease cohorts, comparison with normal population data, using Student's t-test or Mann-Whitney U test as appropriate for continuous variables, and Pearson's chi-square test or Fisher's exact test for categorical variables...
November 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28924228/an-expanded-role-for-heterozygous-mutations-of-abcb4-abcb11-atp8b1-abcc2-and-tjp2-in-intrahepatic-cholestasis-of-pregnancy
#17
Peter H Dixon, Melissa Sambrotta, Jennifer Chambers, Pamela Taylor-Harris, Argyro Syngelaki, Kypros Nicolaides, A S Knisely, Richard J Thompson, Catherine Williamson
Intrahepatic cholestasis of pregnancy (ICP) affects 1/140 UK pregnancies; with pruritus, hepatic impairment and elevated serum bile acids. Severe disease is complicated by spontaneous preterm delivery and stillbirth. Previous studies have reported mutations in hepatocellular transporters (ABCB4, ABCB11). High throughput sequencing in 147 patients was performed in the transporters ABCB4, ABCB11, ATP8B1, ABCC2 and tight junction protein 2 (TJP2). Twenty-six potentially damaging variants were identified with the following predicted protein changes: Twelve ABCB4 mutations - Arg47Gln, Met113Val, Glu161Gly, Thr175Ala, Glu528Glyfs*6, Arg590Gln, Ala601Ser, Glu884Ter, Gly722Ala, Tyr775Met (x2), Trp854Ter...
September 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28923092/dubin-johnson-syndrome-and-intrahepatic-cholestasis-of-pregnancy-in-a-sri-lankan-family-a-case-report
#18
Grace Angeline Malarnangai Kularatnam, Dilanthi Warawitage, Dinesha Maduri Vidanapathirana, Subashini Jayasena, Eresha Jasinge, Nalika de Silva, Kirinda Liyana Arachchige Manoj Sanjeeva Liyanarachchi, Pujitha Wickramasinghe, Manjit Singh Devgun, Veronique Barbu, Olivier Lascols
BACKGROUND: Dubin-Johnson syndrome and intrahepatic cholestasis of pregnancy are rare chronic liver disorders. Dubin-Johnson syndrome may manifest as conjugated hyperbilirubinemia, darkly pigmented liver, presence of abnormal pigment in the parenchyma of hepatocytes and abnormal distribution of the coproporphyrin isomers I and III in the urine. Intrahepatic cholestatic jaundice of pregnancy presents as pruritus, abnormal liver biochemistry and increased serum bile acids. CASE PRESENTATION: A Sri Lankan girl presented with recurrent episodes of jaundice...
September 18, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28922472/mirna-506-promotes-primary-biliary-cholangitis-like-features-in-cholangiocytes-and-immune-activation
#19
Oihane Erice, Patricia Munoz-Garrido, Javier Vaquero, Maria J Perugorria, Maite G Fernandez-Barrena, Elena Saez, Alvaro Santos-Laso, Ander Arbelaiz, Raul Jimenez-Agüero, Joaquin Fernandez-Irigoyen, Enrique Santamaria, Verónica Torrano, Arkaitz Carracedo, Meenakshisundaram Ananthanarayanan, Marco Marzioni, Jesus Prieto, Ulrich Beuers, Ronald P Oude Elferink, Nicholas F LaRusso, Luis Bujanda, Jose J G Marin, Jesus M Banales
Primary biliary cholangitis (PBC) is a chronic cholestatic liver disease associated with autoimmune phenomena targeting intrahepatic bile duct cells (cholangiocytes). Although PBC etiopathogenesis still remains obscure, development of anti-mitochondrial auto-antibodies against pyruvate dehydrogenase complex-E2 (PDC-E2) is a common feature. MicroRNA (miR) dysregulation occurs in liver and immune cells of PBC patients, but their functional relevance is largely unknown. We previously reported that miR-506 is overexpressed in PBC cholangiocytes and directly targets both Cl(-) /HCO3(-) anion exchanger 2 (AE2) and type III inositol 1,4,5-trisphosphate receptor (InsP3R3), leading to cholestasis...
September 18, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28919113/hepatic-tmem30a-deficiency-causes-intrahepatic-cholestasis-by-impairing-expression-and-localization-of-bile-salt-transporters
#20
Leiming Liu, Lingling Zhang, Lin Zhang, Fan Yang, Xudong Zhu, Zhongjie Lu, Yeming Yang, Haiqi Lu, Lifeng Feng, Zhuo Wang, Hui Chen, Sheng Yan, Lin Wang, Zhenyu Ju, Hongchuan Jin, Xianjun Zhu
Mutations in ATP8B1 or ATP11C (members of P4-type ATPases) cause progressive familial intrahepatic cholestasis type 1 in human or intrahepatic cholestasis in mice. Transmembrane protein 30A (TMEM30A), as a β-subunit, is essential for the function of P4-type ATPases, including ATP8B1 and ATP11C; however, its role in the cause of cholestasis remains poorly understood. To investigate the function of TMEM30A in bile salt (BS) homeostasis, we developed Tmem30a liver-specific knockout (LKO) mice. Tmem30a LKO mice experienced hyperbilirubinemia, hypercholanemia, inflammatory infiltration, ductular proliferation, and liver fibrosis...
September 15, 2017: American Journal of Pathology
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