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Congenital hepatic fibrosis

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https://www.readbyqxmd.com/read/29140564/%C3%AE-catenin-and-il-1%C3%AE-dependent-cxcl10-production-drives-progression-of-disease-in-a-mouse-model-of-congenital-hepatic-fibrosis
#1
Eleanna Kaffe, Romina Fiorotto, Francesca Pellegrino, Valeria Mariotti, Mariangela Amenduni, Massimiliano Cadamuro, Luca Fabris, Mario Strazzabosco, Carlo Spirli
Congenital Hepatic Fibrosis (CHF), a genetic disease caused by mutations in the PKHD1 gene, encoding for the protein fibrocystin (FPC), is characterized by biliary dysgenesis, progressive portal fibrosis, and by a PKA-mediated activating phosphorylation of β-Catenin at Ser675. Biliary structures of Pkhd1(del4/del4) mice, a mouse model of CHF, secrete CXCL10 a chemokine able to recruit macrophages. The aim of this study is to clarify whether CXCL10 plays a pathogenetic role in disease progression in CHF/CD and to understand the mechanisms leading to increased CXCL10 secretion...
November 15, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/29121718/non-invasive-assessment-of-liver-changes-in-eisenmenger-patients
#2
Siegrun Mebus, Nicole Nagdyman, Johanna Kügel, Reinhart Zachoval, Siegmund Lorenz Braun, Guido Haverkämper, Bernd Opgen-Rhein, Felix Berger, Sophia Horster, Jörg Schoetzau, Claudia Pujol Salvador, Ulrike Bauer, John Hess, Peter Ewert, Harald Kaemmerer
BACKGROUND: Eisenmenger syndrome as a severe form of cyanotic congenital heart disease results in a complex multisystemic disorder. Due to increased systemic venous pressure and the inability to ensure systemic perfusion and metabolic requirements, the liver may develop congestion, fibrosis or cirrhosis. This study aimed to assess hepatic abnormalities in Eisenmenger patients non-invasively. METHODS AND RESULTS: 10 adults with Eisenmenger syndrome (six female; median age 44...
December 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/29062909/congenital-hepatic-fibrosis-in-a-9-year-old-female-patient-a-case-report
#3
Kamil Janowski, Maria Goliszek, Joanna Cielecka-Kuszyk, Irena Jankowska, Joanna Pawłowska
Congenital hepatic fibrosis (CHF) is a rare, autosomal recessive disorder, clinically characterized by hepatic fibrosis and portal hypertension. CHF results from ductal plate malformation (DPM) of the intrahepatic bile ducts. Four clinical forms can be observed: portal hypertensive, cholangitic, mixed and latent. CHF is one of the "fibropolycystic diseases" which also include several conditions with a variety of intrahepatic bile duct dilatation and associated periportal fibrosis such as Caroli disease, autosomal recessive and dominant polycystic kidney disease (ARPKD or ADPKD), Ivemark, Jeune, Joubert, Bardet-Biedl, Meckel-Gruber and Arima syndromes...
September 2017: Clin Exp Hepatol
https://www.readbyqxmd.com/read/29043403/hepatic-morphology-abnormalities-beyond-cirrhosis
#4
REVIEW
Giuseppe Mamone, Kelvin Cortis, Aquilina Sarah, Settimo Caruso, Roberto Miraglia
The diagnosis of cirrhosis can be reached on the basis of established hepatic morphological changes. However, some other conditions can mimic cirrhosis. The aim of this pictorial essay is to review the CT and MRI appearances of hepatic morphology abnormalities in the cirrhotic liver and other diseases, describing pathologic conditions that can mimic cirrhosis, with useful tips for the differential diagnosis. Mimickers of cirrhosis include congenital hepatic fibrosis, Caroli disease, Budd-Chiari Syndrome, hepatoportal sclerosis, cavernous transformation of the portal vein, pseudocirrhosis from metastatic disease, acute liver failure, post-therapeutic morphologic changes in the liver, and infective conditions including schistosomiasis and oriental cholangiohepatitis...
October 17, 2017: Abdominal Radiology
https://www.readbyqxmd.com/read/28915934/increased-yap-activation-is-associated-with-hepatic-cyst-epithelial-cell-proliferation-in-arpkd-chf
#5
Lu Jiang, Lina Sun, Genea Edwards, Michael Manley, Darren P Wallace, Seth Septer, Chirag Manohar, Michele T Pritchard, Udayan Apte
Autosomal recessive polycystic kidney disease/congenital hepatic fibrosis (ARPKD/CHF) is a rare but fatal genetic disease characterized by progressive cyst development in the kidneys and liver. Liver cysts arise from aberrantly proliferative cholangiocytes accompanied by pericystic fibrosis and inflammation. Yes associated protein (YAP), the downstream effector of the Hippo signaling pathway, is implicated in human hepatic malignancies such as hepatocellular carcinoma, cholangiocarcinoma, and hepatoblastoma, but its role in hepatic cystogenesis in CHF/ARPKD is unknown...
September 15, 2017: Gene Expression
https://www.readbyqxmd.com/read/28860541/functional-validation-of-novel-mks3-tmem67-mutations-in-coach-syndrome
#6
So-Hyun Lee, Tai-Seung Nam, Wenting Li, Jung Ha Kim, Woong Yoon, Yoo-Duk Choi, Kun-Hee Kim, Hua Cai, Min Jung Kim, Changsoo Kim, Hyon E Choy, Nacksung Kim, Kee Oh Chay, Myeong-Kyu Kim, Seok-Yong Choi
COACH syndrome is an autosomal recessive developmental disorder, a subtype of Joubert syndrome and related disorders, characterized by cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis. Although mutations in TMEM67 (transmembrane protein 67)/MKS3 (Meckel-Gruber syndrome, type 3) were reported to cause COACH syndrome, this causality has not verified by functional studies. In a 20-year-old Korean man, we found cerebellar ataxia, isolated elevation in serum γ-glutamyl transpeptidase (γ-GTP) activity, oligophrenia, the molar tooth sign (MTS) in the brain MR images and congenital hepatic fibrosis (CHF)...
August 31, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28846049/the-safety-of-lumacaftor-and-ivacaftor-for-the-treatment-of-cystic-fibrosis
#7
REVIEW
Maria Talamo Guevara, Susanna A McColley
Lumacaftor-ivacaftor is indicated for treatment of cystic fibrosis (CF) in patients homozygous for the Phe-508del cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations. In clinical trials, treated patients showed improved pulmonary function, reduced pulmonary exacerbations, and other benefits. This article reviews safety of this therapy. Areas covered: Safety findings in ivacaftor, lumacaftor and combined therapy trials, and reported subsequently through post-approval evaluation, were accessed by PubMed and Google searches using key words 'VX-770', 'ivacaftor', 'VX-809', and 'lumacaftor'...
November 2017: Expert Opinion on Drug Safety
https://www.readbyqxmd.com/read/28830294/heterotopic-gastric-mucosa-in-a-duplication-cyst-of-the-common-hepatic-duct-mimicking-cholangiocarcinoma
#8
Amedeo Sciarra, Roxane Hessler, Sébastien Godat, Montserrat Fraga, Clarisse Dromain, Rafael Duran, Nermin Halkic, Christine Sempoux
Heterotopic gastric mucosa in biliary tract is a congenital anomaly that can prove significant clinical dilemmas. Here we report the case of a 28-year-old female patient presenting with jaundice, pruritus, and altered liver tests, with predominant cholestasis. Liver biopsy revealed histological changes suggesting large bile duct obstruction with advanced fibrosis. At imaging, common hepatic duct stricture due to an intraluminal enhancing mass was observed. Endoscopic retrograde cholangiopancreatography and upper echoendoscopy revealed a firm mass of the common hepatic duct with a complete obstruction, suspicious for cholangiocarcinoma...
August 1, 2017: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28814334/abernethy-malformation-associated-with-caroli-s-syndrome-in-a-patient-with-a-pkhd1-mutation-a-case-report
#9
Xiao-Xiao Mi, Xiao-Guang Li, Zi-Rong Wang, Ling Lin, Chun-Hai Xu, Jun-Ping Shi
BACKGROUND: Abernethy malformation is a rare congenital anomaly characterised by the partial or complete absence of the portal vein and the subsequent development of an extrahepatic portosystemic shunt. Caroli's disease is a rare congenital condition characterised by non-obstructive saccular intrahepatic bile duct dilation. Caroli's disease combined with congenital hepatic fibrosis and/or renal cystic disease is referred to - Caroli's syndrome. The combination of Abernethy malformation and Caroli's syndrome has not been reported previously...
August 16, 2017: Diagnostic Pathology
https://www.readbyqxmd.com/read/28737145/congenital-hepatic-fibrosis-with-polycystic-kidney-disease-an-unusual-cause-of-neonatal-cholestasis
#10
Vani Bharani, G Vybhav Venkatesh, Uma Nahar Saikia, B R Thapa
Congenital hepatic fibrosis is characterized by hepatic fibrosis, portal hypertension, and renal cystic disease. Typical presentation of congenital hepatic fibrosis is in the form of portal hypertension, in adolescents and young adults. We present an unusual case of neonatal cholestasis with rapid deterioration within first 4 months of life, who was diagnosed to have congenital hepatic fibrosis with polycystic kidney disease on autopsy.
July 15, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/28688656/notch-signaling-promotes-ductular-reactions-in-biliary-atresia
#11
Jessica A Zagory, William Dietz, Alex Park, Michael Fenlon, Jiabo Xu, Sarah Utley, Nirmala Mavila, Kasper S Wang
BACKGROUND: Biliary atresia (BA) is a congenital, progressive, fibro-obliterative disease of the extrahepatic biliary tree and the most common cause of end-stage liver disease in children. BA is characterized by extensive intrahepatic proliferating ductular reactions that may contribute to biliary fibrosis. Lineage tracing during experimental cholestasis indicates that cells within ductular reactions derive from PROM1-expressing hepatic progenitor cells. Given the role of Notch signaling in normal biliary development, we hypothesize that activated Notch signaling promotes the formation of ductular reactions in BA...
July 2017: Journal of Surgical Research
https://www.readbyqxmd.com/read/28680603/isolated-congenital-hepatic-fibrosis-associated-with-tmem67-mutations-report-of-a-new-genotype-phenotype-relationship
#12
Ida Vogel, Peter Ott, Dorte Lildballe, Stephen Hamilton-Dutoit, Hendrik Vilstrup, Henning Grønbæk
We report an otherwise healthy 32-year-old man with portal hypertension, variceal bleeding, and congenital hepatic fibrosis with ductal plate malformation. Genetic screening identified two TMEM67 mutations. Biallelic TMEM67 mutations are known to cause Joubert/Meckel syndrome or nephronopthisis with hepatic fibrosis, but have never been found in isolated hepatic fibrosis.
July 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28530647/stage-of-liver-fibrosis-in-patients-with-congenital-bleeding-disorders-and-infected-with-hepatitis-c-virus
#13
Marta Kucharska, Urszula Zaleska-Dorobisz, Aleksandra Szymczak, Marcin Inglot, Weronika Rymer, Małgorzata Zalewska, Krzysztof Małyszczak, Małgorzata Kuliszkiewicz-Janus, Małgorzata Inglot
INTRODUCTION    Hepatitis C virus (HCV) is the major cause of chronic liver disease in patients with hemophilia. As liver biopsy should not be routinely used in them, possibilities of accurate assessment of the fibrosis stage have been very limited until recently. OBJECTIVES    The aim of the study was to determine the stage of liver fibrosis in HCV-infected hemophiliacs with use of non-invasive methods of fibrosis assessment and to analyze the influence of risk factors on liver fibrosis.  PATIENTS AND METHODS    The study included 71 HCV-infected patients with hemophilia and other congenital bleeding disorders...
May 22, 2017: Polish Archives of Internal Medicine
https://www.readbyqxmd.com/read/28526690/emerging-concepts-in-biliary-repair-and-fibrosis
#14
REVIEW
Luca Fabris, Carlo Spirli, Massimiliano Cadamuro, Romina Fiorotto, Mario Strazzabosco
Chronic diseases of the biliary tree (cholangiopathies) represent one of the major unmet needs in clinical hepatology and a significant knowledge gap in liver pathophysiology. The common theme in cholangiopathies is that the target of the disease is the biliary tree. After damage to the biliary epithelium, inflammatory changes stimulate a reparative response with proliferation of cholangiocytes and restoration of the biliary architecture, owing to the reactivation of a variety of morphogenetic signals. Chronic damage and inflammation will ultimately result in pathological repair with generation of biliary fibrosis and clinical progression of the disease...
August 1, 2017: American Journal of Physiology. Gastrointestinal and Liver Physiology
https://www.readbyqxmd.com/read/28515578/imaging-in-ductal-plate-malformations
#15
Binit Sureka, Archana Rastogi, Chhagan Bihari, Kishore G S Bharathy, Vikrant Sood, Seema Alam
Ductal plate malformations are a heterogenous group of congenital fibrocystic liver diseases resulting from insult to the ductal plate at various stages of embryogenesis. As a result various biliary malformations, cysts, hamartomas and congenital hepatic fibrosis may be seen. We present a radiological pictorial of ductal plate malformations, accurate diagnosis of which is important for clinical management.
January 2017: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/28402911/hassab-s-operation-for-joubert-syndrome-with-congenital-hepatic-fibrosis-a-case-report
#16
Koji Miyazawa, Yasuyuki Hara, Kenji Shimizu, Wataru Nakanishi, Kazuaki Tokodai, Chikashi Nakanishi, Shigehito Miyagi, Naoki Kawagishi, Noriaki Ohuchi
INTRODUCTION: Joubert syndrome is characterized by psychomotor developmental delay, hypotonia, oculomotor abnormalities, occasional retinal dystrophy and cystic kidneys, and frequent and often, striking breathing abnormalities, especially in the neonatal period, with panting tachypnea followed by apnea. We report a case of Joubert syndrome with hepatic fibrosis, portal hypertension, and pancytopenia treated by Hassab's operation. PRESENTATION OF CASE: Our patient was a 27-year-old woman with a history of tachypnea, muscle hypotonia, and psychomotor retardation shortly after birth and a diagnosis of Joubert syndrome at 2 years of age...
2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28374309/early-and-peri-operative-prognostic-indicators-in-infants-undergoing-hepatic-portoenterostomy-for-biliary-atresia-a-review
#17
REVIEW
Robert N Lopez, Chee Y Ooi, Usha Krishnan
PURPOSE OF REVIEW: Biliary atresia is the most common indication for liver transplantation among children. In recent years, prospective, multi-centre collaboration has been underway with the aim of providing high-quality data on the natural history of the condition, prior to and following hepatic portoenterostomy. RECENT FINDINGS: There is increasing evidence that specific histological findings, and age, at the time of portoenterostomy have relevance as prognostic indicators...
April 2017: Current Gastroenterology Reports
https://www.readbyqxmd.com/read/28302006/transplantation-for-large-liver-tumors-in-the-setting-of-abernethy-malformation
#18
İlgin Özden, Ayşen Yavru, Mine Güllüoğlu, Aydin Alper, Orhan Bilge, Serdar Cantez, Özlem Durmaz
In this study, we report our experiences on the role of transplantation in 2 patients with large liver tumors in the setting of Abernethy malformation. Patient 1 was a 17-year-old boy who was referred for hepatic masses and recurrent hepatic encephalopathy episodes. Computed tomography and magnetic resonance imaging showed 2 large tumors (4 and 8 cm) in the liver. The portal vein drained directly into the vena cava. Core biopsy of the larger mass revealed fibrosis and regenerative hyperplasia. There were hyperintense signals in the T1-weighted images in the globus pallidus...
March 2017: Experimental and Clinical Transplantation
https://www.readbyqxmd.com/read/28260452/unusual-indications-for-a-liver-transplant-a-single-center-experience
#19
Aydincan Akdur, Mahir Kirnap, Ebru H Ayvazoglu Soy, Figen Ozcay, Gokhan Moray, Gulnaz Arslan, Mehmet Haberal
OBJECTIVES: This study sought to evaluate the efficacy of liver transplant for unusual liver diseases. MATERIALS AND METHODS: The results of 476 patients who underwent liver transplant from 1988 to January 2015 were retrospectively analyzed. Two hundred forty-five of them were adult patients and 231 of them were pediatric. Thirty-one patients had unusual liver disease. RESULTS: Of the 31 patients with unusual liver disease, 9 (29%) were adult and 22 (71%) were pediatric patients...
February 2017: Experimental and Clinical Transplantation
https://www.readbyqxmd.com/read/28253873/extended-clinical-features-associated-with-novel-glis3-mutation-a-case-report
#20
K A Alghamdi, A B Alsaedi, A Aljasser, A Altawil, Naglaa M Kamal
BACKGROUND: Mutations in the GLI-similar 3 (GLIS3) gene encoding the transcription factor GLIS3 are a rare cause of neonatal diabetes and congenital hypothyroidism with 12 reported patients to date. Additional features, previously described, include congenital glaucoma, hepatic fibrosis, polycystic kidneys, developmental delay, facial dysmorphism, osteopenia, sensorineural deafness, choanal atresia, craniosynostosis and pancreatic exocrine insufficiency. CASE PRESENTATION: We report a new case for consanguineous parents with homozygous novel mutation in GLIS3 gene who presented with neonatal diabetes mellitus, severe resistant congenital hypothyroidism, cholestatic liver disease, bilateral congenital glaucoma and facial dysmorphism...
March 2, 2017: BMC Endocrine Disorders
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