:: CLDF ::

The spectrum of Progressive Familial Intrahepatic Cholestasis diseases: Update on pathophysiology and emerging treatments

Eur J Med Genet. 2021 Aug 31;104317. doi: 10.1016/j.ejmg.2021.104317.Online ahead of print.

Antonia Felzen¹, Henkjan J Verkade²

Long-Term Outcome after Liver Transplantation for Progressive Familial Intrahepatic Cholestasis

Medicina (Kaunas). 2021 Aug 22;57(8):854. doi: 10.3390/medicina57080854.

Safak Gül-Klein¹, Robert Öllinger¹, Moritz Schmelzle¹, Johann Pratschke¹, Wenzel Schöning¹

ATP7B variant spectrum in a French pediatric Wilson disease cohort

Eur J Med Genet. 2021 Aug 13;104305. doi: 10.1016/j.ejmg.2021.104305. Online ahead of print.

Eduardo Couchonnal¹, Sophie Bouchard², Thomas Damgaard Sandahl³, Cecile Pagan⁴, Laurence Lion-François⁵, Olivier Guillaud⁵, Dalila Habes⁶, Dominique Debray⁷, Thierry Lamireau⁸, Pierre Broué⁹, Alexandre Fabre¹⁰, Claire Vanlemmens¹¹, Rodolphe Sobesky¹², Frederic Gottrand¹³, Laure Bridoux-Henno¹⁴, Abdelouahed Belmalih⁵, Aurelia Poujois¹⁵, Anne Sophie Brunet¹⁶, Alain Lachaux¹⁷, Muriel Bost¹⁸

Long-term outcome of Wilson's disease complicated by liver disease

2021 Jun 5;5(7):793-800. doi: 10.1002/jgh3.12589. eCollection 2021 Jul.

Satoko Arai¹, Tomomi Kogiso¹, Yuri Ogasawara¹, Takaomi Sagawa¹, Makiko Taniai¹, Katsutoshi Tokushige¹

ATP7B variant spectrum in a French pediatric Wilson disease cohort

Eur J Med Genet. 2021 Aug 13;104305. doi: 10.1016/j.ejmg.2021.104305. Online ahead of print.

Long-term outcome of Wilson's disease complicated by liver disease

JGH Open. 2021 Jun 5;5(7):793-800. doi: 10.1002/jgh3.12589. eCollection 2021 Jul.

Satoko Arai¹, Tomomi Kogiso¹, Yuri Ogasawara¹, Takaomi Sagawa¹, Makiko Taniai¹, Katsutoshi Tokushige¹

Clinical experience with non-invasive prenatal screening for single-gene disorders (NIPT-SGD)

Ultrasound Obstet Gynecol. 2021 Aug 6. doi: 10.1002/uog.23756. Online ahead of print.

P Mohan¹, J Lemoine¹, C Trotter¹, I Rakova¹, P Billings¹, S Peacock², C-Y Kao², Y Wang^2 3, F Xia^2 3, C M Eng^2 3, P Benn³

Long-term liver transplant outcomes for progressive familial intrahepatic cholestasis type 1: The Pittsburgh experience

Pediatr Transplant. 2021 Aug 2;e14108. doi: 10.1111/petr.14108. Online ahead of print.

Sarah A F Henkel¹, Claudia M Salgado², Miguel Reyes-Mugica², Kyle A Soltys³, Kevin Strauss^4 5, George V Mazariegos³, Robert H Squires¹, Patrick J McKiernan¹, Xingyu Zhang⁶, James E Squires¹

Wilson's disease: Revisiting an old friend

World J Hepatol. 2021 Jun 27;13(6):634-649. doi: 10.4254/wjh.v13.i6.634.

Ana Lucena-Valera¹, Domingo Perez-Palacios¹, Rocio Muñoz-Hernandez², Manuel Romero-Gómez³, Javier Ampuero⁴

10.

Alagille Syndrome: A Focused Review on Clinical Features, Genetics, and Treatment

Semin Liver Dis. 2021 Jul 2. doi: 10.1055/s-0041-1730951. Online ahead of print.

Taisa J Kohut¹, Melissa A Gilbert², Kathleen M Loomes^1 3

11.

Liver changes in Wilson's disease: the full spectrum. A report of 127 biopsies from 43 patients

Eur Rev Med Pharmacol Sci. 2021 Jun;25(12):4336-4344. doi: 10.26355/eurrev_202106_26142.

D Fanni¹, M Guido, C Gerosa, V Vallascas, M Moi, P Coni, E Vallebona, P Van Eyken, D Barcellona, A Scano, G Orrù, P Pampaloni, M Castagnola, G Faa

12.

Generation of an induced pluripotent stem cell line (TRNDi031-A) from a patient with Alagille syndrome type 1 carrying a heterozygous p. C312X (c. 936 T > A) mutation in JAGGED-1

Stem Cell Res. 2021 Jun 24;54:102447. doi: 10.1016/j.scr.2021.102447. Online ahead of print.

Brianna M Brooks¹, Manisha Pradhan¹, Yu-Shan Cheng¹, Kirill Gorshkov¹, Atena Farkhondeh¹, Catherine Z Chen¹, Jeanette Beers², Chengyu Liu³, Karsten Baumgaertel⁴, Steven Rodems⁴, Wei Zheng⁵

13.

Generation of Alagille syndrome derived induced pluripotent stem cell line carrying heterozygous mutation in the JAGGED-1 gene at splicing site (Chr20: 10,629,709C>A) before exon 11

Stem Cell Res. 2021 May;53:102366. doi: 10.1016/j.scr.2021.102366. Epub 2021 Apr 27.

Wei Zhu¹, Yu-Shan Cheng¹, Miao Xu¹, Atena Farkhondeh¹, Jeanette Beers², Jizhong Zou², Chengyu Liu³, Karsten Baumgaertel⁴, Steven Rodems⁴, Wei Zheng⁵

14.

The morphological and histopathological assessment of Alagille syndrome with extrahepatic bile duct obstruction: the importance of the differential diagnosis with subgroup "o" biliary atresia

Pediatr Surg Int. 2021 Jun 2. doi: 10.1007/s00383-021-04932-z. Online ahead of print.

Masahiro Takeda¹, Seisuke Sakamoto², Hajime Uchida², Seiichi Shimizu², Yusuke Yanagi², Akinari Fukuda², Takako Yoshioka³, Mureo Kasahara²

15.

Pediatric Wilson's Disease: Phenotypic, Genetic Characterization and Outcome of 182 Children in France

J Pediatr Gastroenterol Nutr. 2021 Jun 1. doi: 10.1097/MPG.0000000000003196.Online ahead of print.

Eduardo Couchonnal¹, Laurence Lion-François, Olivier Guillaud, Dalila Habes, Dominique Debray, Thierry Lamireau, Pierre Broué, Alexandre Fabre, Claire Vanlemmens, Rodolphe Sobesky, Frederic Gottrand, Laure Bridoux-Henno, Jérôme Dumortier, Abdelouahed Belmalih, Aurelia Poujois, Emmanuel Jacquemin, Anne Sophie Brunet, Muriel Bost, Alain Lachaux

16.

Effectiveness of Mediterranean Diet's Adherence in children with Inflammatory Bowel Diseases

Nutrients. 2020 Oct 20;12(10):3206. doi: 10.3390/nu12103206.

Caterina Strisciuglio¹, Sabrina Cenni², Maria Rosaria Serra², Pasquale Dolce³, Massimo Martinelli², Annamaria Staiano², Erasmo Miele²

17.

Fiber and Prebiotic Interventions in Pediatric Inflammatory Bowel Disease: What Role Does the Gut Microbiome Play?

Nutrients. 2020 Oct 20;12(10):3204. doi: 10.3390/nu12103204.

Genelle R Healey¹, Larissa S Celiberto¹, Soo Min Lee¹, Kevan Jacobson¹

18.

Progressive familial intrahepatic cholestasis - farnesoid X receptor deficiency due to NR1H4mutation: A case report

World J Clin Cases. 2021 May 26;9(15):3631-3636.doi: 10.12998/wjcc.v9.i15.3631.

Piotr Czubkowski¹, Richard J Thompson², Irena Jankowska³, A S Knisely⁴, Milton Finegold⁵, Pamela Parsons⁵, Joanna Cielecka-Kuszyk⁶, Sandra Strautnieks², Joanna Pawlowska³, Laura N Bull⁷

19.

Alagille syndrome and pregnancy

Obstet Med. 2021 Mar;14(1):39-41.doi: 10.1177/1753495X19849738.Epub 2019 Jun 9.

Adam Morton¹, Sailesh Kumar²

20.

Topic of the Month: Transient Elastography in Pediatric Liver Disease

J Pediatr Gastroenterol Nutr. 2021 May 11. doi: 10.1097/MPG.0000000000003168.Online ahead of print.

Anna M Banc-Husu¹, Lee M Bass

21.

Defining the natural history of rare genetic liver diseases: lessons learned from the NAPPED initiative

Eur J Med Genet. 2021 May 12;104245. doi: 10.1016/j.ejmg.2021.104245. Online ahead of print.

Daan B E van Wessel¹, Emmanuel Gonzales², Bettina E Hansen³, Henkjan J Verkade⁴

22.

Fatty Acid-Binding Protein 1 as a Potential New Serological Marker of Liver Status in Children with Wilson Disease

J Pediatr Gastroenterol Nutr. 2021 Mar 17. doi: 10.1097/MPG.0000000000003128.Online ahead of print.

Joanna Beata Bierla¹, Wojciech Janczyk, Ewa Konopka, Aldona Wierzbicka-Rucinska, Sebastian Wieckowski, Lukasz Obrycki, Jedrzej Sarnecki, Ewelina Kanarek, Bozena Cukrowska, Piotr Socha

23.

Advanced Microscopy for Liver and Gut Ultrastructural Pathology in Patients with MVID and PFIC Caused by MYO5B Mutations

J Clin Med. 2021 Apr 28;10(9):1901. doi: 10.3390/jcm10091901.

Michael W Hess¹, Iris M Krainer², Przemyslaw A Filipek², Barbara Witting¹, Karin Gutleben¹, Ilja Vietor³, Heinz Zoller⁴, Denise Aldrian⁵, Ekkehard Sturm⁶, James R Goldenring⁷, Andreas R Janecke⁵, Thomas Müller⁵, Lukas A Huber³, Georg F Vogel^3 5

24.

Alagille syndrome and non-syndromic paucity of the intrahepatic bile ducts

Transl Gastroenterol Hepatol. 2021 Apr 5;6:22. doi: 10.21037/tgh-2020-03.eCollection 2021.

Melissa A Gilbert¹, Kathleen M Loomes^2 3

25.

Use of a Comprehensive 66-Gene Cholestasis Sequencing Panel in 2171 Cholestatic Infants, Children, and Young Adults

Pediatr Gastroenterol Nutr. 2021 Feb 22. doi: 10.1097/MPG.0000000000003094.Online ahead of print.

Saul J Karpen¹, Binita M Kamath, John J Alexander, Ilia Ichetovkin, Philip Rosenthal, Ronald J Sokol, Shelley Dunn, Richard J Thompson, James E Heubi