keyword
https://read.qxmd.com/read/37425215/cell-based-bsep-trans-inhibition-a-novel-non-invasive-test-for-diagnosis-of-antibody-induced-bsep-deficiency
#21
JOURNAL ARTICLE
Jan Stindt, Carola Dröge, Elke Lainka, Simone Kathemann, Eva-Doreen Pfister, Ulrich Baumann, Amelie Stalke, Enke Grabhorn, Mohammad Ali Shagrani, Yael Mozer-Glassberg, Jane Hartley, Marianne Wammers, Caroline Klindt, Paulina Philippski, Roman Liebe, Diran Herebian, Ertan Mayatepek, Thomas Berg, Anjona Schmidt-Choudhury, Constanze Wiek, Helmut Hanenberg, Tom Luedde, Verena Keitel
BACKGROUND & AIMS: Antibody-induced bile salt export pump deficiency (AIBD) is an acquired form of intrahepatic cholestasis, which may develop following orthotopic liver transplantation (OLT) for progressive familial intrahepatic cholestasis type 2 (PFIC-2). Approximately 8-33% of patients with PFIC-2 who underwent a transplant develop bile salt export pump (BSEP) antibodies, which trans-inhibit this bile salt transporter from the extracellular, biliary side. AIBD is diagnosed by demonstration of BSEP-reactive and BSEP-inhibitory antibodies in patient serum...
July 2023: JHEP reports: innovation in hepatology
https://read.qxmd.com/read/37394364/oral-findings-in-children-with-congenital-cholestatic-disease-a-systematic-review-of-case-reports-and-case-series
#22
JOURNAL ARTICLE
Florence Reynal, Ariane Camoin, Corinne Tardieu, Alexandre Fabre, Isabelle Blanchet
Multiple causes of congenital neonatal cholestasis have been identified, and are classified as extrahepatic or intrahepatic. Biliary atresia (BA), Alagille syndrome (AGS), and progressive familial intrahepatic cholestasis (PFIC) are the most common of these. Many factors associated with cholestatic diseases are known to degrade the oral health of these children. What are the oral manifestations associated with these diseases in the pediatric population? The aim of this article was to evaluate the impact of congenital cholestasis on oral health in pediatric patients...
June 30, 2023: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://read.qxmd.com/read/37371180/surgical-versus-medical-management-of-progressive-familial-intrahepatic-cholestasis-case-compilation-and-review-of-the-literature
#23
REVIEW
Maria Noelle Hüpper, Judith Pichler, Wolf-Dietrich Huber, Andreas Heilos, Rebecca Schaup, Martin Metzelder, Sophie Langer
(1) Background: Progressive familial intrahepatic cholestasis (PFIC) is a rare cause of liver failure. Surgical biliary diversion (SBD) and ileal bile salt inhibitors (IBAT) can delay or prevent liver transplantation (LTX). A comparison of the two methodologies in the literature is lacking. The combination has not been investigated. (2) Methods: We performed a literature survey on medical and surgical treatments for PFIC and reviewed the charts of our patients with PFIC of a tertiary hospital. The end points of our analysis were a decrease in serum bile acid (sBA) levels, reduction of pruritus and delay or avoidance of (LTX)...
May 26, 2023: Children
https://read.qxmd.com/read/37361697/progressive-familial-intrahepatic-cholestasis-outcome-and-time-to-transplant-after-biliary-diversion-according-to-genetic-subtypes
#24
JOURNAL ARTICLE
Abdulla Sahloul, Elke Lainka, Simone Kathemann, Sandra Swoboda, Carola Dröge, Verena Keitel, Yahya Saleh Al-Matary, Michael Berger, Maren Schulze
BACKGROUND: Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous disease characterized by progressive cholestasis in early childhood. Surgical therapy aims at preventing bile absorption either by external or internal biliary diversion (BD). Several different genetic subtypes encode for defects in bile transport proteins, and new subtypes are being discovered ongoingly. Overall, the literature is scarce, however, accumulating evidence points to PFIC 2 having a more aggressive course and to respond less favorable to BD...
2023: Frontiers in Surgery
https://read.qxmd.com/read/37200712/microvillus-inclusion-disease-caused-by-myo5b-different-presentation-and-phenotypes-despite-same-mutation
#25
Bente Utoft Andreassen, Lise Aunsholt, Elsebet Østergaard, Jakob Ek, Lisa Leth Maroun, Marianne Hørby Jørgensen
Microvillus inclusion disease (MVID) is associated with specific variants in the MYO5B gene causing disrupt epithelial cell polarity. MVID may present at birth with intestinal symptoms or with extraintestinal symptoms later in childhood. We present 3 patients, of whom 2 are siblings, with MYO5B variants and different clinical manifestations, ranging from isolated intestinal disease to intestinal disease combined with cholestatic liver disease, predominant cholestatic liver disease clinically similar to low-gamma-glutamyl transferase PFIC, seizures, and fractures...
May 2023: JPGN reports
https://read.qxmd.com/read/37187258/iterative-antibody-induced-bile-salt-export-pump-deficiency-after-successive-liver-transplantations-successfully-treated-with-plasmapheresis-and-rituximab
#26
Emma Wischlen, Noémie Laverdure, Domitille Erard, Barbara Rohmer, Olivier Boillot, Rémi Dubois, Alain Lachaux, Sophie Collardeau-Frachon, Valérie Hervieu, Jérôme Dumortier
Post-transplantation evolution of progressive familial intrahepatic cholestasis type 2 patients can be complicated by antibody-induced bile salt export pump deficiency (AIBD). There is no consensus on its management. We describe a patient who presented two episodes, 9 years apart. The first episode was refractory to plasmapheresis and intravenous immunoglobulin (IVIG) started 2 months after AIBD onset, leading to graft loss. The second episode responded to plasmapheresis, IVIG and rituximab initiated less than 2 weeks after the beginning of symptoms, allowing for long-term recovery...
May 13, 2023: Clinics and Research in Hepatology and Gastroenterology
https://read.qxmd.com/read/37137858/-clinical-and-genetic-analysis-of-cases-of-progressive-familial-intrahepatic-cholestasis-type-3
#27
JOURNAL ARTICLE
Y L Shen, X T Zhang, Y H Xun
Objective: To conduct clinical and genetic analysis in two cases of cholestatic liver disease to determine the specific etiology of cholestasis. Methods: Clinical data and the medical histories in family members of two cases were collected. The gene variation was detected by whole-exome sequencing technology. Sanger sequencing validation and bioinformatics analysis were performed on patients and their parents with suspected pathogenic mutations. Results: Whole-exome sequencing showed that the ABCB4 gene of case 1 (a male, 16 years old) had compound heterozygous mutations of c...
March 20, 2023: Zhonghua Gan Zang Bing za Zhi, Zhonghua Ganzangbing Zazhi, Chinese Journal of Hepatology
https://read.qxmd.com/read/37113293/associations-between-dairy-consumption-physical-activity-and-blood-pressure-in-chinese-young-women
#28
JOURNAL ARTICLE
Yining Lu, Huw D Wiltshire, Julien S Baker, Qiaojun Wang, Shanshan Ying
INTRODUCTION: The prevalence of hypertension (HTN) has been increasing in young adults. A healthy dietary pattern and increasing physical activity (PA) are commonly recommended as lifestyle modifications needed to manage blood pressure (BP). However, little is known about the relationship between dairy intake, PA, and BP in Chinese young women. The aim of this study was to examine whether BP was associated with dairy intake, moderate-to-vigorous intensity physical activity (MVPA) and total physical activity (TPA) in a sample of Chinese young women...
2023: Frontiers in Nutrition
https://read.qxmd.com/read/37064744/type-3-of-progressive-familial-intrahepatic-cholestasis-pfic-3-case-report
#29
Mohammad Badr Almoshantaf, Suja Alasaad, Mhd Amin Alzabibi, Mosa Shibani, Weaam Ezzdean
Genetic testing should always be advised in both parents and children of families with progressive familial intrahepatic cholestasis as early detection will provide more options to a better qualitative life.
April 2023: Clinical Case Reports
https://read.qxmd.com/read/36995996/native-liver-survival-in-bile-salt-export-pump-deficiency-results-of-a-retrospective-cohort-study
#30
JOURNAL ARTICLE
Eva-Doreen Pfister, Veronika K Jaeger, André Karch, Denys Shay, Nagoud Schukfeh, Johanna Ohlendorf, Norman Junge, Imeke Goldschmidt, Amelie Stalke, Verena Keitel-Anselmino, Ulrich Baumann
BACKGROUND: Bile salt export pump (ABCB11) deficiency [Progressive familial intrahepatic cholestasis (PFIC2)] is the most common genetic cause of PFIC and is associated with pruritus and progressive liver disease. Surgical biliary diversion or pharmacological [ileal bile acid transporter inhibitor (IBATi)] approaches can be used to block the recirculation of bile acids to the liver. There is a paucity of detailed data on the natural history and, in particular, the longitudinal evolution of bile acid levels to predict treatment response...
April 1, 2023: Hepatology Communications
https://read.qxmd.com/read/36950494/questioning-diagnostic-value-of-serum-matrix-metalloproteinase-7-for-biliary-atresia
#31
JOURNAL ARTICLE
Fereshteh Karbasian, Amirali Mashhadiagha, Mohammad H Anbardar, Maryam Ataollahi, Seyed M Dehghani, Naser Honar, Mahmood Haghighat, Mohammad H Imanieh, Mehrab Sayadi, Iraj Shahramian, Ali Aghsam, Amirhossein Hosseini, Seyedeh M Mahadavi Mortazavi, Behnaz Darban, Abbas Avazpour, Bahador Mirrahimi, Arian K Ruzbahani, Ali Tadayon
BACKGROUND: Matrix metalloproteinase 7 (MMP7) has been suggested as a promising biomarker in diagnosing biliary atresia (BA). This study aimed to assess the diagnostic accuracy of serum MMP7 in BA in the Middle Eastern population. METHODS AND MATERIALS: In this cross-sectional study, neonates and infants with direct hyperbilirubinemia admitted to Namazi referral hospital, Shiraz, Iran, were studied. Baseline demographic and clinical characteristics and blood samples were obtained on admission...
2023: Journal of Clinical and Experimental Hepatology
https://read.qxmd.com/read/36934840/-not-available
#32
JOURNAL ARTICLE
Mahintaj Dara, Negar Azarpira, Nasrin Motazedian, Mahdokht Hossein-Aghdaie, Seyed-Mohsen Dehghani, Bita Geramizadeh, Elaheh Esfandiari
BACKGROUND: MicroRNAs (miRNAs) are a group of small non-coding RNAs that bind to the target mRNA and regulate gene expression. Recently circulating microRNAs were investigated as markers of diseases and therapeutic targets. Although various studies analyze the miRNA expression in liver disease, these studies on PFIC are few. Progressive familial intrahepatic cholestasis (PFIC) is a rare liver disease with autosomal recessive inheritance. Most children with PFIC progress to cirrhosis and liver failure and consequently need to have a liver transplant...
March 17, 2023: Gastroenterología y Hepatología
https://read.qxmd.com/read/36892028/odevixibat-a-review-of-a-bioactive-compound-for-the-treatment-of-pruritus-approved-by-the-fda
#33
JOURNAL ARTICLE
Mayur Porwal, Arvind Kumar, Vaibhav Rastogi, Kamal Kishore Maheshwari, Anurag Verma
Odevixibat is synthesized through chemical modification of Benzothiazepine's structure. It is a tiny chemical that inhibits the ileal bile acid transporter and is used to treat a variety of cholestatic illnesses, including progressive familial intrahepatic cholestasis (PFIC). For cholestatic pruritus and liver disease development, bile acid transporter inhibition is a unique treatment strategy. Odevixibat reduces enteric bile acid reuptake. Oral odevixibat was also studied in children with cholestatic liver disease...
March 8, 2023: Current Drug Research Reviews
https://read.qxmd.com/read/36865697/case-report-add-on-treatment-with-odevixibat-in-a-new-subtype-of-progressive-familial-intrahepatic-cholestasis-broadens-the-therapeutic-horizon-of-genetic-cholestasis
#34
Angela Pepe, Angelo Colucci, Martina Carucci, Lucia Nazzaro, Cristina Bucci, Giusy Ranucci, Angelo Di Giorgio, Pietro Vajro, Claudia Mandato
Odevixibat, an ileal bile acid transporter (IBAT) inhibitor, is effective for the treatment of pruritus in children diagnosed with progressive familial intrahepatic cholestasis (PFIC) type 1 and 2. There are no studies showing the efficacy of Odevixibat in children with different subtypes of PFIC. We describe the case of a 6-year-old girl with chronic cholestatic jaundice. In the last 12 months laboratory data showed high serum levels of bilirubin (total bilirubin x 2.5 ULN; direct bilirubin x 1.7 ULN) and bile acids (sBA x 70 ULN), elevated transaminases (x 3-4 ULN), and preserved synthetic liver function...
2023: Frontiers in Pediatrics
https://read.qxmd.com/read/36855993/ileal-bypass-for-pruritus-relief-in-a-3-year-old-boy-with-advanced-progressive-familial-intrahepatic-cholestasis-how-effective-is-it
#35
JOURNAL ARTICLE
Anastasia Dimopoulou, Dimitra Dimopoulou, Nikolaos Zavras, Eleni Kontaki, George Vaos, Smaragdi Fessatou
Progressive familial intrahepatic cholestasis (PFIC) is a group of liver disorders that manifest in early childhood with cholestasis and pruritus resulting progressively in liver failure. We present a case of a 3-year-old boy with advanced PFIC from refractory pruritus. In order to offer an effective treatment of pruritus, our patient underwent ileal bypass and after a 2-month period free of symptoms, unexpectedly relapsed after a Rota viral infection. Finally, the child underwent orthotopic liver transplantation...
February 28, 2023: Folia Medica
https://read.qxmd.com/read/36747344/costs-of-pediatric-liver-transplantation-among-commercially-and-medicaid-insured-patients-with-cholestasis-in-the-united-states
#36
JOURNAL ARTICLE
Tamir Miloh, Andrea Goldstein, Robin Howard, Douglas B Mogul, Jessica R Marden, Annika Anderson, Katherine Gaburo, Noam Kirson, Philip Rosenthal
Children with rare cholestatic liver diseases, such as Alagille syndrome (ALGS), progressive familial intrahepatic cholestasis (PFIC), and biliary atresia (BA) typically require liver transplantation (LT). The objective of this analysis was to assess the economic burden of LT on these patients. Healthcare resource utilization (HRU) and costs associated with pediatric LT were retrospectively assessed using insurance claims data from the US IBM MarketScan® Commercial and Medicaid databases collected between October 2015 and December 2019...
February 8, 2023: Liver Transplantation
https://read.qxmd.com/read/36687469/genotype-phenotype-relationships-of-truncating-mutations-p-e297g-and-p-d482g-in-bile-salt-export-pump-deficiency
#37
JOURNAL ARTICLE
Antonia Felzen, Daan B E van Wessel, Emmanuel Gonzales, Richard J Thompson, Irena Jankowska, Benjamin L Shneider, Etienne Sokal, Tassos Grammatikopoulos, Agustina Kadaristiana, Emmanuel Jacquemin, Anne Spraul, Patryk Lipiński, Piotr Czubkowski, Nathalie Rock, Mohammad Shagrani, Dieter Broering, Emanuele Nicastro, Deirdre Kelly, Gabriella Nebbia, Henrik Arnell, Björn Fischler, Jan B F Hulscher, Daniele Serranti, Cigdem Arikan, Esra Polat, Dominique Debray, Florence Lacaille, Cristina Goncalves, Loreto Hierro, Gema Muñoz Bartolo, Yael Mozer-Glassberg, Amer Azaz, Jernej Brecelj, Antal Dezsőfi, Pier Luigi Calvo, Enke Grabhorn, Steffen Hartleif, Wendy J van der Woerd, Binita M Kamath, Jian-She Wang, Liting Li, Özlem Durmaz, Nanda Kerkar, Marianne Hørby Jørgensen, Ryan Fischer, Carolina Jimenez-Rivera, Seema Alam, Mara Cananzi, Noemie Laverdure, Cristina Targa Ferreira, Felipe Ordoñez Guerrero, Heng Wang, Valerie Sency, Kyung Mo Kim, Huey-Ling Chen, Elisa de Carvalho, Alexandre Fabre, Jesus Quintero Bernabeu, Aglaia Zellos, Estella M Alonso, Ronald J Sokol, Frederick J Suchy, Kathleen M Loomes, Patrick J McKiernan, Philip Rosenthal, Yumirle Turmelle, Simon Horslen, Kathleen Schwarz, Jorge A Bezerra, Kasper Wang, Bettina E Hansen, Henkjan J Verkade
BACKGROUND & AIMS: Bile salt export pump (BSEP) deficiency frequently necessitates liver transplantation in childhood. In contrast to two predicted protein truncating mutations (PPTMs), homozygous p.D482G or p.E297G mutations are associated with relatively mild phenotypes, responsive to surgical interruption of the enterohepatic circulation (siEHC). The phenotype of patients with a compound heterozygous genotype of one p.D482G or p.E297G mutation and one PPTM has remained unclear...
February 2023: JHEP reports: innovation in hepatology
https://read.qxmd.com/read/36644077/progressive-familial-intrahepatic-cholestasis-type-3-homozygous-pathogenic-variant-c-2906g-a-in-the-atp-binding-cassette-subfamily-b-member-4-abcb4-gene-a-case-report-of-an-unusual-presentation
#38
Badriah G Alasmari, Syed Rayees, Mohammed Alomari, Lina Elzubair, Yassin Hamid
Progressive familial intrahepatic cholestasis (PFIC) describes a heterogeneous group of autosomal-recessive childhood liver disorders in which cholestasis of hepatocellular origin frequently manifests during infancy or the first year of life and progresses to liver failure. We report a case of a five-year-old boy with homozygous pathogenic variant c.2906G>A in the ATP binding cassette subfamily B member 4 ( ABCB4)  gene presented with hepatosplenomegaly and cytopenia without a history of jaundice or itching; he had a history of Epstein-Barr virus infection and family history of liver disease...
December 2022: Curēus
https://read.qxmd.com/read/36624442/dental-management-of-a-pediatric-patient-with-progressive-familial-intrahepatic-cholestasis-having-dental-anomalies-a-case-report-and-brief-review-of-the-literature
#39
JOURNAL ARTICLE
Mina Yazdizadeh, Maryam Sharifi, Arefeh Torabi Parizi, Firoozeh Alipour, Maryam Ghasempuor, Elham Zanguei, Maryam Yazdizadeh
BACKGROUND: Progressive familial intrahepatic cholestasis is a heterogeneous group of disorders, leading to intrahepatic cholestasis, with the possibility of chronic liver failure and biliary cirrhosis. Oligodontia is either the manifestation of a specific syndrome or is non-syndromic. To the best of our knowledge, this is the first case report of type 3 progressive familial intrahepatic cholestasis and concurrent oligodontia, craniosynostosis, dens in dente, taurodontism, and delayed permanent dentition in the medical and dental literature...
January 9, 2023: BMC Oral Health
https://read.qxmd.com/read/36569137/case-series-of-progressive-familial-intrahepatic-cholestasis-type-3-characterization-of-variants-in-abcb4-in-china
#40
JOURNAL ARTICLE
Jinlin Cheng, Ling Gong, Xiaoxiao Mi, Xiangyan Wu, Jun Zheng, Wenjun Yang
OBJECTIVE: To improve the accuracy of the diagnosis of familial progressive intrahepatic cholestasis type 3 (PFIC3, https://www.omim.org/entry/602347). MATERIALS AND METHODS: Between September 2019 and March 2021, we recruited four patients with PFIC3 from two liver centers in East China. Molecular genetic findings of ATP-binding cassette subfamily B member 4 [ATP binding cassette transporter A4 ( ABCB4 ), https://www.omim.org/entry/171060] were prospectively examined, and clinical records, laboratory readouts, and macroscopic and microscopic appearances of the liver were analyzed...
2022: Frontiers in Medicine
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