Article
Gastroenterology & Hepatology
Fatma Ilknur Varol, Mukadder Ayse Selimoglu, Sukru Gungor, Sezai Yilmaz, Ibrahim Tekedereli
Summary: PFIC is a rare autosomal recessive inherited disease that causes intrahepatic cholestasis in children. The distribution of different types of PFIC varies among patients, and partial internal biliary diversion and liver transplantation are treatment options for PFIC.
ARAB JOURNAL OF GASTROENTEROLOGY
(2021)
Review
Biochemistry & Molecular Biology
Giovanni Vitale, Alessandro Mattiaccio, Amalia Conti, Sonia Berardi, Vittoria Vero, Laura Turco, Marco Seri, Maria Cristina Morelli
Summary: Idiosyncratic Drug-Induced Liver Injury (iDILI) is a significant health challenge, accounting for a high percentage of hepatitis and acute fulminant hepatic failure cases. It has been found that approximately 30% of iDILI cases are cholestatic, with drugs inhibiting specific transport proteins responsible for bile salt export and bile acids' metabolism and transport. Understanding the molecular pathways and links with familial intrahepatic cholestasis is crucial in identifying the main cholestasis-inducing drugs.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Gastroenterology & Hepatology
Richard J. Thompson, Henrik Arnell, Reha Artan, Ulrich Baumann, Pier Luigi Calvo, Piotr Czubkowski, Buket Dalgic, Lorenzo D'Antiga, Ozlem Durmaz, Bjorn Fischler, Emmanuel Gonzales, Tassos Grammatikopoulos, Girish Gupte, Winita Hardikar, Roderick H. J. Houwen, Binita M. Kamath, Saul J. Karpen, Lise Kjems, Florence Lacaille, Alain Lachaux, Elke Lainka, Cara L. Mack, Jan P. Mattsson, Patrick McKiernan, Hasan Ozen, Sanjay R. Rajwal, Bertrand Roquelaure, Mohammad Shagrani, Eyal Shteyer, Nisreen Soufi, Ekkehard Sturm, Mary Elizabeth Tessier, Henkjan J. Verkade, Patrick Horn
Summary: The study evaluated the effects of odevixibat, an ileal bile acid transporter inhibitor, versus placebo in children with PFIC. The results showed that odevixibat effectively reduced pruritus and serum bile acids compared to placebo, and it was generally well-tolerated.
LANCET GASTROENTEROLOGY & HEPATOLOGY
(2022)
Article
Medicine, General & Internal
Jinlin Cheng, Ling Gong, Xiaoxiao Mi, Xiangyan Wu, Jun Zheng, Wenjun Yang
Summary: This study aims to improve the accuracy of the diagnosis of familial progressive intrahepatic cholestasis type 3 (PFIC3). Through the analysis of clinical records, laboratory tests, liver morphology, and molecular genetics in four PFIC3 patients, it was found that MDR3 immunohistochemistry and molecular genetic analyses of ABCB4 are essential for the accurate diagnosis of PFIC3.
FRONTIERS IN MEDICINE
(2022)
Article
Gastroenterology & Hepatology
Jiong Li, Jiawen Chen, Priscilla Ming Yi Lee, Jun Zhang, Fei Li, Tai Ren
Summary: This study evaluated the familial recurrence of intrahepatic cholestasis of pregnancy (ICP). The results showed that co-twins and first-degree relatives of ICP patients had a similar 5-fold and 2.5-fold increased risk of ICP, respectively. No increased risk was observed in second-degree and third-degree relatives. Further investigation is needed to understand the increased risk of ICP in nonbiological relatives.
Review
Pharmacology & Pharmacy
Shuying Xie, Shizhang Wei, Xiao Ma, Ruilin Wang, Tingting He, Zhao Zhang, Ju Yang, Jiawei Wang, Lei Chang, Manyi Jing, Haotian Li, Xuelin Zhou, Yanling Zhao
Summary: Hereditary cholestatic liver disease, caused by autosomal gene mutations, leads to jaundice and disruptions in bile acid metabolism. The clinical manifestations in children vary due to different gene mutations. Lack of a unified diagnostic standard and single detection method hampers clinical treatment development. Therefore, this review systematically describes the mutated genes of hereditary intrahepatic cholestasis.
FRONTIERS IN PHARMACOLOGY
(2023)
Article
Medicine, Research & Experimental
Qiong Pan, Gang Luo, Jiaquan Qu, Sheng Chen, Xiaoxun Zhang, Nan Zhao, Jingjing Ding, Hong Yang, Mingqiao Li, Ling Li, Ying Cheng, Xuan Li, Qiaoling Xie, Qiao Li, Xueqian Zhou, Huiling Zou, Shijun Fan, Lingyun Zou, Wei Liu, Guohong Deng, Shi-Ying Cai, James L. Boyer, Jin Chai
Summary: The homozygous mutation of SEMA7A(R145W) leads to intrahepatic cholestasis in both mice and children, with further studies showing that this mutation affects the expression of hepatic bile acid transporters and export pumps.
EMBO MOLECULAR MEDICINE
(2021)
Review
Gastroenterology & Hepatology
Rishi Bolia, Akhil Dhanesh Goel, Vishakha Sharma, Anshu Srivastava
Summary: Biliary diversion is effective in relieving pruritus in PFIC, with PIBD having lower complications and LT requirements compared to PEBD.
EXPERT REVIEW OF GASTROENTEROLOGY & HEPATOLOGY
(2022)
Article
Gastroenterology & Hepatology
Patryk Lipinski, Elzbieta Ciara, Dorota Jurkiewicz, Rafal Ploski, Marta Wawrzynowicz-Syczewska, Joanna Pawlowska, Irena Jankowska
Summary: This study presented the phenotypic and genotypic spectrum of 4 Polish PFIC-3 patients, highlighting the importance of NGS in diagnosis and follow-up management. The variability in clinical phenotype was observed, emphasizing the challenges in clinical and biochemical diagnosis of PFIC-3.
ANNALS OF HEPATOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Ruina Liang, Yao Tian, John H. Viles
Summary: Alzheimer's disease involves the neurotoxic self-assembly of Amyloid-beta peptides, and different mutant forms have varying effects on the kinetics and morphology of their assembly. Studies suggest that Aβ42(WT) accelerates fibril formation of Aβ40(Arctic), which may be relevant to the development of early-onset AD.
JOURNAL OF BIOLOGICAL CHEMISTRY
(2022)
Article
Hematology
Llucia Alberti-Servera, Sofie Demeyer, Inge Govaerts, Toon Swings, Jolien De Bie, Olga Gielen, Marco Brociner, Lucienne Michaux, Johan Maertens, Anne Uyttebroeck, Kim De Keersmaecker, Nancy Boeckx, Heidi Segers, Jan Cools
Summary: T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive leukemia characterized by chromosomal rearrangements and somatic mutations in protein-coding regions. Most T-ALL cases have activating mutations in NOTCH1 and other genes related to signaling and regulation. Single-cell DNA sequencing reveals clonal architecture and evolution in T-ALL, showing major and minor clones at diagnosis and during treatment.
Article
Pediatrics
Angela Pepe, Angelo Colucci, Martina Carucci, Lucia Nazzaro, Cristina Bucci, Giusy Ranucci, Angelo Di Giorgio, Pietro Vajro, Claudia Mandato
Summary: Odevixibat, an IBAT inhibitor, is effective for treating pruritus in children with PFIC type 1 and 2. However, there is a lack of studies on the efficacy of Odevixibat in children with different subtypes of PFIC.
FRONTIERS IN PEDIATRICS
(2023)
Article
Multidisciplinary Sciences
G. U. Kulkayeva, V. M. Kemaykin, A. M. Kuttymuratov, Z. Burlaka, J. Z. Saparbay, G. T. Zhakhina, A. A. Adusheva, S. D. Dosayeva
Summary: The study analyzed 398 patients with acute myeloid leukemia (AML) in Kazakhstan and found correlations between ethnicity, cytogenetic group, white blood cell count, and treatment approaches with patient survival. Both cytogenetic group and treatment approaches significantly impacted patient outcomes.
SCIENTIFIC REPORTS
(2021)
Article
Gastroenterology & Hepatology
Gilda Porta, Paula S. M. Rigo, Adriana Porta, Renata P. S. Pugliese, Vera L. B. Danesi, Eliene Oliveira, Cristian C. Borges, Cristiane Ribeiro, Irene K. Miura
Summary: A case of low-gamma-glutamyltranspetidase cholestasis in a Brazilian child was found to be associated with a mutation in the USP53 gene. The patient initially presented with jaundice and hypocholia at 10 days old, and later developed cholelithiasis and intracranial hemorrhage. At 18 months old, the patient no longer had jaundice but experienced moderate pruritus, with genetic testing revealing a novel homozygous mutation in the USP53 gene.
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
(2021)
Article
Medicine, General & Internal
Piotr Czubkowski, Richard J. Thompson, Irena Jankowska, A. S. Knisely, Milton Finegold, Pamela Parsons, Joanna Cielecka-Kuszyk, Sandra Strautnieks, Joanna Pawlowska, Laura N. Bull
Summary: The study presents a case of a boy with severe intrahepatic cholestasis and a homozygous mutation in NR1H4. Although the boy showed good liver function after liver transplantation, he eventually died from an acute infection one year post-transplantation. The study suggests that patients with FXR deficiency may respond well to liver transplantation without developing allograft steatosis.
WORLD JOURNAL OF CLINICAL CASES
(2021)
Article
Gastroenterology & Hepatology
Fabiola Di Dato, Giulia Ranucci, Jean de Ville de Goyet, Daniele Alberti, Raffaele Iorio
Summary: Biliary atresia can lead to rapid deterioration of liver function and may result in death within three years without treatment or liver replacement. However, there are rare cases where patients with biliary atresia splenic malformation syndrome can survive without the need for surgery, suggesting possible alternative mechanisms at play.
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
(2021)
Editorial Material
Gastroenterology & Hepatology
Vincenzo Carollo, Roberto Cannella, Gianvincenzo Sparacia, Giuseppe Mamone, Settimo Caruso, Christine Cannataci, Giovanni Gentile, Giuseppe Salvatore Gallo, Ambra Di Piazza, Fabrizio di Francesco, Jean de Ville de Goyet
LIVER TRANSPLANTATION
(2021)
Letter
Oncology
Isabella Giovannoni, Sabina Barresi, Sabrina Rossi, Alessandra Stracuzzi, Maria Grazia Argentieri, Rita Alaggio
GENES CHROMOSOMES & CANCER
(2021)
Article
Oncology
Sabina Barresi, Isabella Giovannoni, Sabrina Rossi, Alessandra Stracuzzi, Denise Quacquarini, Barbara Cafferata, Domenico Piscitelli, Francesco De Leonardis, Andrea Marzullo, Rita Alaggio
Summary: Epithelioid malignant peripheral nerve sheath tumors (MPNST) are a rare subgroup characterized by diffuse S100 and CD34 expression, often combined with INI-1 loss. This study describes a case of an epithelioid malignancy of the orbit in a 10-year-old girl, with NGS analysis revealing a novel BRD4-LEUTX fusion gene. The fusion gene leads to the re-activation of LEUTX, which has not been reported previously, raising questions about the classification of this tumor entity.
GENES CHROMOSOMES & CANCER
(2021)
Article
Gastroenterology & Hepatology
Giusy Ranucci, Claudia Della Corte, Daniele Alberti, Maria Pia Bondioni, Giovanni Boroni, Pier Luigi Calvo, Mara Cananzi, Manila Candusso, Maria Grazia Clemente, Lorenzo D'Antiga, Irene Degrassi, Jean De Ville De Goyet, Fabiola Di Dato, Angelo Di Giorgio, Carlo Dionisi Vici, Federica Ferrari, Paola Francalanci, Maurizio Fuoti, Fabio Fusaro, Paola Gaio, Chiara Grimaldi, Maria Iascone, Giuseppe Indolfi, Raffaele Iorio, Giuseppe Maggiore, Claudia Mandato, Lorenza Matarazzo, Lidia Monti, Fabio Mosca, Gabriella Nebbia, Federica Nuti, Giulia Paolella, Michele Pinon, Paola Roggero, Marco Sciveres, Daniele Serranti, Marco Spada, Pietro Vajro, Emanuel Nicastro
Summary: Neonatal and infantile cholestasis can be corrected by surgery or treated medically. Timely recognition and identification of the underlying etiology are crucial for improving outcomes. An expert working group was formed to formulate evidence-based positions on the diagnosis of NIC, defining the best-evidence diagnostic approach.
DIGESTIVE AND LIVER DISEASE
(2022)
Article
Gastroenterology & Hepatology
Jean de Ville de Goyet, Ulrich Baumann, Vincent Karam, Rene Adam, Silvio Nadalin, Nigel Heaton, Raymond Reding, Sophie Branchereau, Darius Mirza, Juergen L. Klempnauer, Lutz Fischer, Piotr Kalicinski, Michele Colledan, Manuel Lopez Santamaria, Ruben H. de Kleine, Christophe Chardot, Sezai Yilmaz, Murat Kilic, Olivier Boillot, Fabrizio di Francesco, Wojciech G. Polak, Henkjan J. Verkade, European Liver
Summary: Through retrospective data analysis, it was found that the 5-year graft survival rate of liver transplants in European children has steadily increased, but the late annual graft loss rate in teenagers is relatively higher. Liver transplantation before or after puberty may impact the long-term outcome in children.
Letter
Gastroenterology & Hepatology
Jean de Ville de Goyet, Ulrich Baumann, Vincent Karam, Henkjan J. Verkade
Letter
Gastroenterology & Hepatology
Jean de Ville de Goyet, Olivier Boillot
Editorial Material
Pediatrics
Jean de Ville de Goyet
PEDIATRIC TRANSPLANTATION
(2022)
Article
Medicine, General & Internal
Jean de Ville de Goyet, Toni Illhardt, Christophe Chardot, Peace N. Dike, Ulrich Baumann, Katherine Brandt, Barbara E. Wildhaber, Mikko Pakarinen, Fabrizio di Francesco, Ekkehard Sturm, Marianna Cornet, Caroline Lemoine, Eva Doreen Pfister, Ana M. Calinescu, Maria Hukkinen, Sanjiv Harpavat, Fabio Tuzzolino, Riccardo Superina
Summary: This study analyzed the care pathway of children with biliary atresia (BA) who needed liver transplantation (LT). The results showed that most children required medical assistance while waiting for transplantation and severe clinical deterioration led to the need for prioritized transplantation. Therefore, the focus of BA management should be on pre-transplant care.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Medicine, General & Internal
Caroline P. Lemoine, Omid Madadi-Sanjani, Claus Petersen, Christophe Chardot, Jean de Ville de Goyet, Riccardo Superina
Summary: This study evaluated surgeons' practices in pediatric liver surgery and made recommendations for the management of children needing liver surgery. The findings suggest that pediatric liver surgery should be performed by specialized pediatric surgeons and centralized in regional centers of excellence.
JOURNAL OF CLINICAL MEDICINE
(2023)
Editorial Material
Pediatrics
Jean de Ville de Goyet
PEDIATRIC TRANSPLANTATION
(2023)
Article
Biology
Laura Sparacino, Luca Faes, Gorana Mijatovic, Giuseppe Parla, Vincenzina Lo Re, Roberto Miraglia, Jean de Ville de Goyet, Gianvincenzo Sparacia
Summary: This study presents a methodology for deriving meaningful insights from individual brain signal recordings, focusing on statistical methods that prioritize subject-specific differences under varying experimental conditions. The study confirms the presence of high-order, synergistic subsystems in the brain that can be overlooked by pairwise graph structures, and proposes a multivariate information theory approach to address this limitation.
Article
Medicine, Research & Experimental
Chiara Lago, Aniello Federico, Gloria Leva, Norman L. Mack, Benjamin Schwalm, Claudio Ballabio, Matteo Gianesello, Luana Abballe, Isabella Giovannoni, Sofia Reddel, Sabrina Rossi, Nicolas Leone, Andrea Carai, Angela Mastronuzzi, Alessandra Bisio, Alessia Soldano, Concetta Quintarelli, Franco Locatelli, Marcel Kool, Evelina Miele, Luca Tiberi
Summary: This study presents a protocol for efficient generation, expansion, and biobanking of pediatric brain cancer organoids. These organoids recapitulate histological features, DNA methylation profiles, and intratumor heterogeneity of the tumors. The study also shows that the organoids respond similarly to the same therapeutic regimens as the patients. These findings highlight the potential of organoids for research and personalized medicine.
EMBO MOLECULAR MEDICINE
(2023)
Meeting Abstract
Medicine, General & Internal
Valerie A. McLin, Stephanie Franchi-Abella, Dominique Debray, Simona Korff, Valeria Casotti, Michele Colledan, Lorenzo D'Antiga, Jean De Ville De Goyet, Ebehard Lurz, Xavier Stephenne, Nathalie Rock, Loreto Hierro, Ino Kanavaki, Jose Lipsich, Manuel Lopez-Santamaria, Maria Magnusson, Yael Mozer-Glassberg, Maria-Dolores Ponce, Consuelo Prieto, Ozlem Durmaz, Sharat Varma, Florent Guerin, Tudor Pop, Barbara Wildhaber, Emmanuel M. Gonzales
SWISS MEDICAL WEEKLY
(2022)