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Intrahepatic Cholestasis

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https://www.readbyqxmd.com/read/27898169/cross-sectional-analysis-of-progressive-familial-intrahepatic-cholestasis-in-puerto-rican-children
#1
Dellys M Soler, Antonio I Del Valle, David Fernandez-Lube, Benjamin L Shneider
OBJECTIVE: Specific inherited disorders may be more common in island communities. Prior case reports suggest that cholestatic liver diseases may constitute a group of these inherited disorders in Puerto Rico. A cross-sectional survey of liver diseases in children was conducted to assess this hypothesis. METHODS: A cross-sectional analysis was performed in patients with chronic cholestasis at "Hospital Pediátrico Universitario" in San Juan, Puerto Rico. Ten potential participants with high gamma-glutamyl transpeptidase (GGTP) cholestasis were identified...
December 2016: Puerto Rico Health Sciences Journal
https://www.readbyqxmd.com/read/27891271/intrahepatic-cholestasis-of-pregnancy-with-severe-elevation-of-bile-acids-in-the-setting-of-acute-hepatitis-c-infection
#2
Megan L Lawlor, Agatha S Critchfield
Intrahepatic cholestasis of pregnancy (ICP) is a complication of pregnancy resulting in elevation of serum bile acid levels. ICP is often associated with underlying liver disease, including hepatitis C. Bile acids in relationship to the acute infection of hepatitis C virus have not yet been delineated in the literature. A 26-year-old gravida 4 para 2103 with dichorionic, diamniotic twin gestation and history of intravenous drug abuse developed ICP in the setting of acute hepatitis C infection. In addition to clinical symptoms of pruritus and right upper quadrant pain, she developed severe elevation in bile acids, 239 micromol/L, and transaminitis aspartate aminotransferase 1033 U/L, and alanine aminotransferase 448 U/L...
2016: Case Reports in Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27875503/influence-of-partial-external-biliary-diversion-on-the-lipid-profile-in-children-with-progressive-familial-intrahepatic-cholestasis
#3
Irena Jankowska, Piotr Czubkowski, Aldona Wierzbicka, Joanna Pawłowska, Piotr Kaliciński, Piotr Socha
OBJECTIVES: The concentration of bile acids is highly increased in progressive familial intrahepatic cholestasis (PFIC). Bile acids are the end products of cholesterol metabolism, and aid in the absorption of fat-soluble vitamins and dietary fat. The aim of our study was to investigate lipid metabolism in patients with PFIC with focus on the effect of partial external biliary diversion (PEBD). METHODS: In 26 patients with PFIC, who underwent PEBD surgery at the median age of 2...
December 2016: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/27871465/identification-of-genes-for-normalization-of-real-time-rt-pcr-data-in-placental-tissues-from-intrahepatic-cholestasis-of-pregnancy
#4
Yanli Li, Huifang Lu, Yizhen Ji, Sufang Wu, Yongbin Yang
The selection of suitable reference genes is crucial for proper interpretation of RT-qPCR data. To date, a systematic screening for reference genes in placental tissues from intrahepatic cholestasis of pregnancy (ICP) is missing. Eighteen candidate reference genes were investigated to determine their applicability by descriptive statistics and published algorithms. HPRT1, YWHAZ and PUM1 were found to be the most stable genes and could be used for normalization in gene expression study of placentas from ICP...
December 2016: Placenta
https://www.readbyqxmd.com/read/27843427/isolated-liver-hilar-infiltration-by-igg4-inflammation-mimicking-cholangiocarcinoma
#5
Laurent Bochatay, Pietro Majno, Emiliano Giostra, Jean Louis Frossard
IgG4-related disease represents a heterogeneous group of disease characterized by infiltration of various tissues by IgG4 plasmocytes. In case of liver infiltration, this condition classically mimics primary sclerosing cholangitis or multifocal cholangiocarcinoma due to inflammation that preferentially affects the intra- and extrahepatic bile duct. Diagnostic criteria have recently been reviewed in order to better define the disease and help physicians make the diagnosis. Herein, we present the case of a patient who died after liver surgery for suspected cholangiocarcinoma that finally turned out to be IgG4-associated liver disease, a condition being out of current consensual criteria...
September 2016: Case Reports in Gastroenterology
https://www.readbyqxmd.com/read/27829683/biochemical-and-molecular-characteristics-of-citrin-deficiency-in-korean-children
#6
Seak Hee Oh, Beom Hee Lee, Gu-Hwan Kim, Jin-Ho Choi, Kyung Mo Kim, Han-Wook Yoo
Mutations in SLC25A13 cause citrin deficiency, which has three phenotypes: neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD) and adult-onset type 2 citrullinemia (CTLN2). The purpose of this study was to determine the mutation spectrum and the clinical and biochemical characteristics of citrin deficiency in Korean patients. Thirty-four patients were diagnosed with citrin deficiency based on mutations in SLC25A13, as verified by direct sequencing and long PCR screening of a large transposon insertion...
November 10, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27825922/ursodeoxycholic-acid-therapy-in-intrahepatic-cholestasis-of-pregnancy-results-in-real-world-conditions-and-factors-predictive-of-response-to-treatment
#7
Yannick Bacq, Matthieu le Besco, Anne-Isabelle Lecuyer, Chantal Gendrot, Jérôme Potin, Christian R Andres, Alexandre Aubourg
BACKGROUND: Ursodeoxycholic acid (UDCA) therapy is commonly used in intrahepatic cholestasis of pregnancy (ICP). AIM: To evaluate the efficacy and tolerance of UDCA in real-world conditions and to search for factors predictive of response to treatment. METHODS: This observational study included 98 consecutive patients suffering from pruritus during pregnancy associated with increased ALT levels or total bile acid (TBA) concentrations, without other causes of cholestasis...
October 20, 2016: Digestive and Liver Disease
https://www.readbyqxmd.com/read/27824421/-elevated-liver-enzymes
#8
Axel Holstege
Elevated liver enzymes are a frequent finding in both symptomatic and asymptomatic patients necessitating further evaluation to clarify the underlying disease. Three different patterns of increased liver enzymes can be defined to allow for a more precise and rational further diagnostic approach. A predominant increase in transaminase activities reflects a disturbance of hepatocellular integrity which can be found in patients with viral hepatitis, genetic liver diseases like Wilson`s disease or hemochromatosis, and drug-induced liver diseases...
October 2016: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/27819646/from-laparoscopic-cholecystectomy-to-liver-transplantation-when-the-gallbladder-becomes-the-pandora-s-box
#9
Georgios C Sotiropoulos, Peter Tsaparas, Stylianos Kykalos, Nikolaos Machairas, Ernesto P Molmenti, Andreas Paul
Bile duct injuries (BDI) tend to be more complex in laparoscopic than in open cholecystectomy procedures, and frequently involve young adults with benign pathologies. The ultimate consequence may be a liver transplantation (LT), making this situation one of the most rare transplant indications. Fatal post-transplant outcome is extreme infrequently reported. Aim of this study is to report on our single-case experience and to review the literature concerning lethal outcome after LT for major BDI following cholecystectomy...
2016: Chirurgia
https://www.readbyqxmd.com/read/27816442/metformin-impairs-systemic-bile-acid-homeostasis-through-regulating-sirt1-protein-levels
#10
Qi Chen, Xiaoying Yang, Huabing Zhang, Xingxing Kong, Lu Yao, Xiaona Cui, Yongkang Zou, Fude Fang, Jichun Yang, Yongsheng Chang
Metformin is widely used to treat hyperglycemia. However, metformin treatment may induce intrahepatic cholestasis and liver injury in a few patients with type II diabetes through an unknown mechanism. Here we show that metformin decreases SIRT1 protein levels in primary hepatocytes and liver. Both metformin-treated wild-type C57 mice and hepatic SIRT1-mutant mice had increased hepatic and serum bile acid levels. However, metformin failed to change systemic bile acid levels in hepatic SIRT1-mutant mice. Molecular mechanism study indicates that SIRT1 directly interacts with and deacetylates Foxa2 to inhibit its transcriptional activity on expression of genes involved in bile acids synthesis and transport...
November 3, 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27806127/rifampicin-induced-hepatic-lipid-accumulation-association-with-up-regulation-of-peroxisome-proliferator-activated-receptor-%C3%AE-in-mouse-liver
#11
Jia-Hui Huang, Cheng Zhang, Da-Gang Zhang, Lu Li, Xi Chen, De-Xiang Xu
Previous study found that rifampicin caused intrahepatic cholestasis. This study investigated the effects of rifampicin on hepatic lipid metabolism. Mice were orally administered with rifampicin (200 mg/kg) daily for different periods. Results showed that serum TG level was progressively reduced after a short elevation. By contrast, hepatic TG content was markedly increased in rifampicin-treated mice. An obvious hepatic lipid accumulation, as determined by Oil Red O staining, was observed in mice treated with rifampicin for more than one week...
2016: PloS One
https://www.readbyqxmd.com/read/27799965/ursodeoxycholic-acid-and-s-adenosylmethionine-for-the-treatment-of-intrahepatic-cholestasis-of-pregnancy-a-meta-analysis
#12
REVIEW
Yang Zhang, Linlin Lu, David W Victor, Yongning Xin, Shiying Xuan
CONTEXT: An optimal therapeutic strategy has not yet been identified for the pharmacological treatment of intrahepatic cholestasis of pregnancy (ICP). The aim of this study was to evaluate the efficacy and safety of ursodeoxycholic acid (UDCA) and S-adenosylmethionine (SAMe) in the treatment of ICP, both individually and in combination. EVIDENCE ACQUISITION: A meta-analysis of all randomized controlled trials (RCTs) comparing UDCA, SAMe, and combination therapy was performed...
August 2016: Hepatitis Monthly
https://www.readbyqxmd.com/read/27799961/heterozygous-inactivation-of-the-nuclear-receptor-pxr-nr1i2-in-a-patient-with-anabolic-steroid-induced-intrahepatic-cholestasis
#13
Roman Liebe, Marcin Krawczyk, Joanna Raszeja-Wyszomirska, Beata Kruk, Rebecca Preis, Jocelyn Trottier, Olivier Barbier, Piotr Milkiewicz, Frank Lammert
INTRODUCTION: The incidence of liver damage due to steroid consumption is increasing due to the omnipresence of the idealized body image and the widespread availability of drugs via the Internet. The genetic factors underlying individual susceptibility are not presently known. CASE PRESENTATION: A male patient developed cholestatic liver injury two weeks after a two-month course of anabolic steroids. Next-generation sequencing (NGS) of 24 cholestasis-related genes revealed a heterozygous two-basepair deletion in exon 1 of the pregnane X receptor gene (PXR)...
August 2016: Hepatitis Monthly
https://www.readbyqxmd.com/read/27796940/etiology-clinical-profile-and-outcome-of-liver-disease-in-pregnancy-with-predictors-of-maternal-mortality-a-prospective-study-from-western-india
#14
Dattatray Solanke, Chetan Rathi, Vikas Pandey, Mallanagoud Patil, Aniruddha Phadke, Prabha Sawant
BACKGROUND: The aim of this study is to study the etiology, clinical profile, and prognostic factors related to maternal and fetal health in pregnant patients with liver disease in Western India. METHODS: This study included 103 consecutive pregnant patients with liver dysfunction from August 2013 to July 2015, who underwent regular biochemical tests, viral markers, ultrasound of abdomen, etc. and were followed up for 6 weeks postpartum or until death. RESULTS: Pregnancy-specific causes of liver dysfunction were found in 39 % (40/103) patients...
October 31, 2016: Indian Journal of Gastroenterology: Official Journal of the Indian Society of Gastroenterology
https://www.readbyqxmd.com/read/27788730/-one-case-of-progressive-familial-intrahepatic-cholestasis-type-2
#15
X L Liu, S P Ma, L Liu, X X Wang
No abstract text is available yet for this article.
September 20, 2016: Zhonghua Gan Zang Bing za Zhi, Zhonghua Ganzangbing Zazhi, Chinese Journal of Hepatology
https://www.readbyqxmd.com/read/27788395/in-silico-investigation-of-the-impact-of-synonymous-variants-in-abcb4-gene-on-mrna-stability-structure-splicing-accuracy-and-codon-usage-potential-contribution-to-pfic3-disease
#16
Boudour Khabou, Olfa Siala-Sahnoun, Lamia Gargouri, Emna Mkaouar-Rebai, Leila Keskes, Mongia Hachicha, Faiza Fakhfakh
Progressive Familial Intrahepatic Cholestasis type 3 (PFIC3) is an autosomal-recessive liver disease due to mutations in the ABCB4 gene encoding for the MDR3 protein. In the present study, we performed molecular and bioinformatic analyses in PFIC3 patients in order to understand the molecular basis of the disease. The three studied patients with PFIC3 were screened by PCR amplification followed by direct sequencing of the 27 coding exons of ABCB4. In silico analysis was performed by bioinformatic programs. We revealed three synonymous polymorphisms c...
October 22, 2016: Computational Biology and Chemistry
https://www.readbyqxmd.com/read/27779681/slc25a13-cdna-cloning-analysis-using-peripheral-blood-lymphocytes-facilitates-the-identification-of-a-large-deletion-mutation-molecular-diagnosis-of-an-infant-with-neonatal-intrahepatic-cholestasis-caused-by-citrin-deficiency
#17
Han-Shi Zeng, Wei-Xia Lin, Shu-Tao Zhao, Zhan-Hui Zhang, Heng-Wen Yang, Feng-Ping Chen, Yuan-Zong Song, Zhi-Nan Yin
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive disorder resulting from biallelic mutations of the SLC25A13 gene. Due to the lack of well‑recognized clinical or biochemical diagnostic criteria, the definitive diagnosis of this disease relies on the genetic analysis of SLC25A13 at present. As novel large deletion/insertion mutations of the SLC25A13 gene are difficult to detect using routine DNA analytic approaches, the timely diagnosis of patients with these types of mutations remains a challenge...
October 21, 2016: Molecular Medicine Reports
https://www.readbyqxmd.com/read/27778350/cell-free-dna-is-higher-and-more-fragmented-in-intrahepatic-cholestasis-of-pregnancy-intrahepatic-cholestasis-of-pregnancy-and-cell-free-dna
#18
Barbora Vlková, Marta Kalousová, Anna Germanová, Antonín Pařízek, Zdeněk Hájek, Tomáš Zima, Peter Celec
No abstract text is available yet for this article.
October 25, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27776845/-the-use-of-progestatives-for-the-prevention-of-spontaneous-preterm-birth
#19
E Azria
OBJECTIVES: To identify clinical situations in which progestatives used to reduce the risk of spontaneous preterm delivery and/or reduced adverse neonatal outcomes have been evaluated and identify situations in which 17OHPC or vaginal progesterone might be recommended. METHODS: Bibliographic searches were performed in the Medline and Cochrane databases with the use of a combination of keywords and text words related to "progesterone", "tocolysis", and "preterm labor" from 1956 through July 2016...
October 21, 2016: Journal de Gynécologie, Obstétrique et Biologie de la Reproduction
https://www.readbyqxmd.com/read/27775690/knockout-of-microrna-21-reduces-biliary-hyperplasia-and-liver-fibrosis-in-cholestatic-bile-duct-ligated-mice
#20
Lindsey L Kennedy, Fanyin Meng, Julie K Venter, Tianhao Zhou, Walker A Karstens, Laura A Hargrove, Nan Wu, Konstantina Kyritsi, John Greene, Pietro Invernizzi, Francesca Bernuzzi, Shannon S Glaser, Heather L Francis, Gianfranco Alpini
Cholestasis is a condition that leads to chronic hepatobiliary inflammation, fibrosis, and eventually cirrhosis. Many microRNAs (miRs) are known to have a role in fibrosis progression; however, the role of miR-21 during cholestasis remains unknown. Therefore, the aim of this study was to elucidate the role of miR-21 during cholestasis-induced biliary hyperplasia and hepatic fibrosis. Wild-type (WT) and miR-21(-/-) mice underwent Sham or bile duct ligation (BDL) for 1 week, before evaluating liver histology, biliary proliferation, hepatic stellate cell (HSC) activation, fibrotic response, and small mothers against decapentaplegic 7 (Smad-7) expression...
December 2016: Laboratory Investigation; a Journal of Technical Methods and Pathology
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