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JOURNAL ARTICLE
Laura Guerrero, Lorena Carmona-Rodríguez, Fátima Milhano Santos, Sergio Ciordia, Luiz Stark, Loreto Hierro, Pablo Pérez-Montero, David Vicent, Fernando J Corrales
Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a severe rare liver disease that affects between 1/50,000 and 1/100,000 children. In physiological conditions, bile is produced by the liver and stored in the gallbladder, and then it flows to the small intestine to play its role in fat digestion. To prevent tissue damage, bile acids (BAs) are kept in phospholipid micelles. Mutations in phosphatidyl choline transporter ABCB4 (MDR3) lead to intrahepatic accumulation of free BAs that result in liver damage...
January 29, 2024: BioFactors
#22
JOURNAL ARTICLE
Shuyun Chen, Viktor H Ahlqvist, Hugo Sjöqvist, Olof Stephansson, Cecilia Magnusson, Christina Dalman, Håkan Karlsson, Brian K Lee, Renee M Gardner
BACKGROUND: Intrahepatic cholestasis of pregnancy (ICP) is the most common obstetric liver disorder and is associated with an increased risk of iatrogenic preterm birth and adverse infant outcomes. Hence, there are several plausible pathways through which ICP could affect offspring neurodevelopment. However, to the best of our knowledge, no studies have investigated these associations. Thus, we aimed to determine whether ICP is associated with offspring neurodevelopmental conditions. METHODS AND FINDINGS: In this Swedish register-based cohort study, we included singleton non-adopted children born in Sweden between the 1st of January 1987 and the 31st of December 2010, who were resident in Sweden >5 years, with no missing covariate information, which we followed until the 31st of December 2016...
January 2024: PLoS Medicine
#23
JOURNAL ARTICLE
Daniel Zamanfar, Seyed MohammadBagher Hashemi-Soteh, Mobin Ghazaiean, Elham Keyhanian
BACKGROUND: Glycogen storage disease type IX is a rare disorder that can cause a wide variety of symptoms depending on the specific deficiency of the phosphorylase kinase enzyme and the organs it affects. CASE PRESENTATION: A 4-and-a-half-year-old Caucasian girl was referred to our clinic with a liver biopsy report indicating a diagnosis of glycogen storage disease. Prior to being referred to our clinic, the patient had been under the care of pediatric gastroenterologists...
January 12, 2024: Journal of Medical Case Reports
#24
JOURNAL ARTICLE
Patrick McKiernan, Jesus Quintero Bernabeu, Muriel Girard, Giuseppe Indolfi, Eberhard Lurz, Palak Trivedi
BACKGROUND & AIMS: Progressive familial intrahepatic cholestasis (PFIC) relates to a group of rare, debilitating, liver disorders which typically present in early childhood, but have also been reported in adults. Without early detection and effective treatment, PFIC can result in end-stage liver disease. The aim of the paper was to put forward recommendations that promote standardisation of the management of PFIC in clinical practice. METHODS: A committee of six specialists came together to discuss the challenges faced by physicians in the management of PFIC...
January 2024: JHEP reports: innovation in hepatology
#25
JOURNAL ARTICLE
Bettina E Hansen, Shannon M Vandriel, Pamela Vig, Will Garner, Douglas B Mogul, Kathleen M Loomes, David A Piccoli, Elizabeth B Rand, Irena Jankowska, Piotr Czubkowski, Dorota Gliwicz-Miedzińska, Emmanuel M Gonzales, Emmanuel Jacquemin, Jérôme Bouligand, Lorenzo D'Antiga, Emanuele Nicastro, Henrik Arnell, Björn Fischler, Étienne Sokal, Tanguy Demaret, Susan Siew, Michael Stormon, Saul J Karpen, Rene Romero, Noelle H Ebel, Jeffrey A Feinstein, Amin J Roberts, Helen M Evans, Shikha S Sundaram, Alexander Chaidez, Winita Hardikar, Sahana Shankar, Ryan T Fischer, Florence Lacaille, Dominique Debray, Henry C Lin, M Kyle Jensen, Catalina Jaramillo, Palaniswamy Karthikeyan, Giuseppe Indolfi, Henkjan J Verkade, Catherine Larson-Nath, Ruben E Quiros-Tejeira, Pamela L Valentino, Maria Rogalidou, Antal Dezsőfi, James E Squires, Kathleen Schwarz, Pier Luigi Calvo, Jesus Quintero Bernabeu, Andréanne N Zizzo, Gabriella Nebbia, Pinar Bulut, Ermelinda Santos-Silva, Rima Fawaz, Silvia Nastasio, Wikrom Karnsakul, María Legarda Tamara, Cristina Molera Busoms, Deirdre Kelly, Thomas Damgaard Sandahl, Carolina Jimenez-Rivera, Jesus M Banales, Quais Mujawar, Li-Ting Li, Huiyu She, Jian-She Wang, Kyung Mo Kim, Seak Hee Oh, Maria Camila Sanchez, Maria Lorena Cavalieri, Way Seah Lee, Christina Hajinicolaou, Chatmanee Lertudomphonwanit, Orith Waisbourd-Zinman, Cigdem Arikan, Seema Alam, Elisa Carvalho, Melina Melere, John Eshun, Zerrin Önal, Dev M Desai, Sabina Wiecek, Raquel Borges Pinto, Victorien M Wolters, Jennifer Garcia, Marisa Beretta, Nanda Kerkar, Jernej Brecelj, Nathalie Rock, Eberhard Lurz, Niviann Blondet, Uzma Shah, Richard J Thompson, Binita M Kamath
BACKGROUND AND AIMS: Alagille syndrome (ALGS) is characterized by chronic cholestasis with associated pruritus and extrahepatic anomalies. Maralixibat, an ileal bile acid transporter inhibitor, is the first-approved pharmacologic therapy for cholestatic pruritus in ALGS. Since long-term placebo-controlled studies are not feasible or ethical in children with rare diseases, a novel approach was taken comparing 6-year outcomes from maralixibat trials with an aligned and harmonized natural history cohort from the Global ALagille Alliance (GALA) study...
December 25, 2023: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
#26
JOURNAL ARTICLE
Ravi Chirag, Thirunavukkarasu Arun Babu
Hepatitis A is a common cause of acute infectious hepatitis in children, transmitted through the faeco-oral route. Although mostly self-limiting, cholestasis is a rare but known complication of acute hepatitis A in children. This report presents an adolescent girl who developed cholestatic features following hepatitis A infection and successful treatment with oral steroid therapy. Prolonged cholestasis jaundice (PCJ) is a known manifestation of hepatitis A infection, characterised by prolonged fever, pruritus and jaundice...
December 9, 2023: BMJ Case Reports
#27
JOURNAL ARTICLE
Antoine Gardin, Mathias Ruiz, Jan Beime, Mara Cananzi, Margarete Rathert, Barbara Rohmer, Enke Grabhorn, Marion Almes, Veena Logarajah, Luis Peña-Quintana, Thomas Casswall, Amaria Darmellah-Remil, Ana Reyes-Domínguez, Emna Barkaoui, Loreto Hierro, Carolina Baquero-Montoya, Ulrich Baumann, Björn Fischler, Emmanuel Gonzales, Anne Davit-Spraul, Sophie Laplanche, Emmanuel Jacquemin
BACKGROUND: Oral cholic acid therapy is an effective therapy in children with primary bile acid synthesis deficiencies. Most reported patients with this treatment have 3β-hydroxy-Δ5 -C27 -steroid oxidoreductase deficiency. The aim of the study was the evaluation of cholic acid therapy in a cohort of patients with the rarer Δ4 -3-oxosteroid 5β-reductase (Δ4 -3-oxo-R) deficiency. METHODS: Sixteen patients with Δ4 -3-oxo-R deficiency confirmed by AKR1D1 gene sequencing who received oral cholic acid were retrospectively analyzed...
December 7, 2023: Orphanet Journal of Rare Diseases
#28
JOURNAL ARTICLE
Jeffrey Teckman, Philip Rosenthal, Rosalinda V Ignacio, Cathie Spino, Lee M Bass, Simon Horslen, Kasper Wang, John C Magee, Saul Karpen, Akihiro Asai, Jean P Molleston, Robert H Squires, Binita M Kamath, Stephen L Guthery, Kathleen M Loomes, Benjamin L Shneider, Ronald J Sokol
BACKGROUND: Our objective was to better understand the natural history and disease modifiers of Alpha-1-antitrypsin deficiency (AATD), a common genetic liver disease causing hepatitis and cirrhosis in adults and children. The clinical course is highly variable. Some infants present with neonatal cholestasis, which can resolve spontaneously or progress to cirrhosis; others are well in infancy, only to develop portal hypertension later in childhood. METHODS: The Childhood Liver Disease Research Network has been enrolling AATD participants into longitudinal, observational studies at North American tertiary centers since 2004...
December 1, 2023: Hepatology Communications
#29
JOURNAL ARTICLE
Theodore S Kocoshis, Theodosia A Kalfa, Alexander G Miethke, William F Balistreri, Katie G Seu, Crystal G Slaughter, Ruchi Singh, Mary Mullen, Samuel A Kocoshis
BACKGROUND: Spur-cell anemia sometimes accompanies cholestasis. We postulated that even in the absence of spur-cells, cholestasis might alter red blood cell (RBC) osmotic fragility and deformability. Therefore, we assessed these RBC measures by ektacytometry in pediatric patients. METHODS: We conducted a single center, prospective, cross-sectional investigation of RBC membrane characteristics by ektacytometry in pediatric patients with intra- and extrahepatic cholestasis followed at Cincinnati Children's Hospital Medical Center...
December 1, 2023: Pediatric Research
#30
JOURNAL ARTICLE
Emine Nur Sunar Yayla, Sinan Sarı, Neslihan Gürcan Kaya, Ödül Eğrİtaş Gürkan, Hakan Sözen, İbrahim Onur Özen, Aydın Dalgıç, Buket Dalgıç
PURPOSE: Portal hypertension (PH) and its complications have a significant impact on morbidity and mortality. This study aimed to evaluate the etiology; clinical, laboratory, and endoscopic findings; treatment approaches; long-term outcomes; and prognosis of pediatric PH. METHODS: This retrospective study included 222 pediatric patients diagnosed with PH between 1998 and 2016, and data encompassing clinical, laboratory, and radiological features; treatments; and complications were analyzed...
November 2023: Pediatric Gastroenterology, Hepatology & Nutrition
#31
JOURNAL ARTICLE
L L Ge, C F Chen, L Liu, X Zheng, X M Zhang, Y D Zhang, S Y Mei
Objective: To investigate the clinical phenotype and gene variation conditions in neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), so as to provide a basis for genetic counseling and clinical diagnosis and treatment of the family. Methods: 11 cases of neonatal intrahepatic cholestasis who visited the Children's Hospital Affiliated to Zhengzhou University between February 2019 and March 2021 were selected as the study subjects. High-throughput sequencing technology was used to detect the gene variation condition in 11 neonatal patients and 100 normal control neonates...
October 20, 2023: Zhonghua Gan Zang Bing za Zhi, Zhonghua Ganzangbing Zazhi, Chinese Journal of Hepatology
#32
REVIEW
Rebecca Jeyaraj, Eamonn R Maher, Deirdre Kelly
Children with Alagille syndrome and progressive familial intrahepatic cholestasis (PFIC) experience debilitating pruritus, for which there have been few effective treatment options. In the past 2 years, the ileal bile acid transporter (IBAT) inhibitors maralixibat and odevixibat have been approved for the management of cholestatic pruritus in these individuals, representing an important step forward in improving their quality of life. Emerging data suggest these drugs might also improve event-free survival, therefore potentially altering the typical disease course currently seen in these disorders...
January 2024: Lancet Child & Adolescent Health
#33
JOURNAL ARTICLE
Francesca Destro, Ugo Maria Pierucci, Eleonora Durante, Anna Maria Caruso, Vincenza Girgenti, Carlotta Paola Maria Canonica, Irene Degrassi, Alessandro Campari, Alessandro Pellegrinelli, Marta Barisella, Manuela Nebuloni, Marco Brunero, Elia Mario Biganzoli, Valeria Calcaterra, Gloria Pelizzo
BACKGROUND: In children, laparoscopic cholecystectomy (LC) is now considered the gold standard for gallbladder (GB) removal. In the past, hemolytic disorders associated with cholelithiasis represented the most frequent conditions requiring LC; this is being overtaken by cholelithiasis and biliary conditions in overweight or ex-premature children. AIMS: This study aims to describe current indications and timing for LC in pediatric patients. METHODS: Retrospective study...
October 31, 2023: Children
#34
JOURNAL ARTICLE
Meng Jin, Jinghua Cui, Huijuan Ning, Meijuan Wang, Wenwen Liu, Kunyu Yao, Jing Yuan, Xuemei Zhong
BACKGROUND: Infantile cholestasis (IC) is the most common hepatobiliary disease in infants, resulting in elevated direct bilirubin levels. Indeed, hepatointestinal circulation impacts bile acid and bilirubin metabolism. This study evaluates changes in the gut microbiota composition in children with IC and identifies abnormal metabolite profiles associated with microbial alterations. RESULTS: The gut microbiota in the IC group exhibits the higher abundance of Veillonella, Streptococcus and Clostridium spp...
November 18, 2023: BMC Microbiology
#35
JOURNAL ARTICLE
Arghya Samanta, Moinak Sen Sarma, Anshu Srivastava, Ujjal Poddar
Cholestatic liver diseases in children often have an underlying genetic defect. Genetic testing by next-generation sequencing has become a crucial part of the diagnostic armamentarium in such clinical scenarios. Here, authors report an infant with recurrent cholestasis, pruritus, elevated gamma-glutamyl transpeptidase, patent biliary tract and biliary changes on histology who was detected to have a novel KIF12 mutation, which is crucial for intracellular transport of microtubules and cellular polarity in hepatocytes...
November 3, 2023: Indian Journal of Pediatrics
#36
JOURNAL ARTICLE
Julia M Boster, Nathan P Goodrich, Cathie Spino, Kathleen M Loomes, Estella M Alonso, Binita M Kamath, Ronald J Sokol, Saul Karpen, Alexander Miethke, Benjamin L Shneider, Jean P Molleston, Rohit Kohli, Simon P Horslen, Philip Rosenthal, Pamela L Valentino, Jeffrey H Teckman, Thomas N Hangartner, Shikha S Sundaram
BACKGROUND: Sarcopenia occurs in pediatric chronic liver disease, although the prevalence and contributing factors in genetic intrahepatic cholestasis are not well-described. The objective of this study was to measure muscle mass in school-aged children with genetic intrahepatic cholestasis and assess relationships between sarcopenia, clinical variables, and outcomes. METHODS: Estimated skeletal muscle mass (eSMM) was calculated on dual-energy x-ray absorptiometry obtained in a Childhood Liver Disease Research Network study of children with bile acid synthesis disorders(BASD) alpha-1 antitrypsin deficiency (a1ATd), chronic intrahepatic cholestasis (CIC), and Alagille syndrome (ALGS)...
November 1, 2023: Hepatology Communications
#37
JOURNAL ARTICLE
Michael Doppler, Christin Fürnstahl, Simone Hammer, Michael Melter, Niklas Verloh, Hans Jürgen Schlitt, Wibke Uller
BACKGROUND: Biliary leaks are a severe complication after pediatric liver transplantation (pLT), and successful management is challenging. OBJECTIVES: The aim of this case series was to assess the outcome of percutaneous transhepatic biliary drainage (PTBD) in children with bile leaks following pLT. The necessity of additional percutaneous bilioma drainage and laboratory changes during therapy and follow-up was documented. MATERIAL AND METHODS: All children who underwent PTBD for biliary leak following pLT were included in this consecutive retrospective single-center study and analyzed regarding site of leak, management of additional bilioma, treatment response, and patient and transplant survival...
October 19, 2023: Tomography: a Journal for Imaging Research
#38
JOURNAL ARTICLE
Weiyuan Fang, Yanhui Zhang, Lian Chen, Xinbao Xie
AIM: This study aimed to summarize and show the characteristics and evolutionary process of neonatal cholestasis caused by McCune-Albright syndrome (MAS), as neonatal cholestasis may be the initial manifestation of MAS before other classic clinical features appear. METHODS: The clinical characteristics, treatment methods, and outcomes of three neonatal cholestasis cases caused by MAS in our center were retrospectively studied. In addition, all the reported cases of MAS combined with cholestasis were reviewed and summarized to show the cholestatic features in them...
2023: Frontiers in Pediatrics
#39
JOURNAL ARTICLE
T Jiang, L Tang, H Zhang, S J Li, W X Ouyang
Objective: To understand the clinical and genetic characteristics of hereditary spherocytosis (HS) combined with cholestasis among pediatric patients. Methods: 12 cases of HS children accompanied by cholestasis at Hunan Children's Hospital were selected as the research subjects between January 2013 and December 2022. Clinical data were collected. Whole-exome sequencing was performed by second-generation sequencing. Suspected pathogenic mutation sites were verified by Sanger sequencing. Results: All pediatric patients were admitted to the hospital due to their yellow skin tone...
September 20, 2023: Zhonghua Gan Zang Bing za Zhi, Zhonghua Ganzangbing Zazhi, Chinese Journal of Hepatology
#40
JOURNAL ARTICLE
M Deng, R Liu, L J Deng, R Chen, M E Cai, G Z Lin, J W Qiu, Y Z Song
Objective: This study focuses on Na(+)-taurocholate cotransporting polypeptide (NTCP) deficiency to analyze and investigate the value of the serum bile acid profile for facilitating the diagnosis and differential diagnosis. Methods: Clinical data of 66 patients with cholestatic liver diseases (CLDs) diagnosed and treated in the Department of Pediatrics of the First Affiliated Hospital of Jinan University from early April 2015 to the end of December 2021 were collected, including 32 cases of NTCP deficiency (16 adults and 16 children), 16 cases of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), 8 cases of Alagille syndrome, and 10 cases of biliary atresia...
September 20, 2023: Zhonghua Gan Zang Bing za Zhi, Zhonghua Ganzangbing Zazhi, Chinese Journal of Hepatology
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