Literature DB >> 14638363

Familial visceral myopathy with pseudo-obstruction, megaduodenum, Barrett's esophagus, and cardiac abnormalities.

Zeynel Mungan1, Filiz Akyüz, Zehra Bugra, Oya Yönall, Sükrü Oztürk, Arif Acar, Ugur Cevikbas.   

Abstract

This report describes a new subgroup of familial visceral myopathy. Three patients from within this family were admitted to the hospital with pseudo-obstruction. Barium x-ray, abdominal plain film, esophageal manometry, colonoscopy, gastroscopy, and echocardiography were performed in all siblings for diagnostic evaluation. Two of our patients had surgery because of suspicion of acute abdomen. In one of them, full-thickness biopsy, which was performed during laparotomy, revealed findings that were compatible with familial visceral myopathy. Three siblings from this family with visceral myopathy, in which the parents were consanguineous, had megaduodenum, long-segment Barrett's esophagus, and different cardiac abnormalities.

Entities:  

Mesh:

Year:  2003        PMID: 14638363     DOI: 10.1111/j.1572-0241.2003.08707.x

Source DB:  PubMed          Journal:  Am J Gastroenterol        ISSN: 0002-9270            Impact factor:   10.864


  9 in total

Review 1.  Cohesin subunit RAD21: From biology to disease.

Authors:  Haizi Cheng; Nenggang Zhang; Debananda Pati
Journal:  Gene       Date:  2020-07-17       Impact factor: 3.688

2.  The expanding phenotypes of cohesinopathies: one ring to rule them all!

Authors:  Jessica Piché; Patrick Piet Van Vliet; Michel Pucéat; Gregor Andelfinger
Journal:  Cell Cycle       Date:  2019-09-13       Impact factor: 4.534

3.  Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.

Authors:  Thuy-Linh Le; Louise Galmiche; Jonathan Levy; Pim Suwannarat; Debby Mei Hellebrekers; Khomgrit Morarach; Franck Boismoreau; Tom Ej Theunissen; Mathilde Lefebvre; Anna Pelet; Jelena Martinovic; Antoinette Gelot; Fabien Guimiot; Amanda Calleroz; Cyril Gitiaux; Marie Hully; Olivier Goulet; Christophe Chardot; Severine Drunat; Yline Capri; Christine Bole-Feysot; Patrick Nitschké; Sandra Whalen; Linda Mouthon; Holly E Babcock; Robert Hofstra; Irenaeus Fm de Coo; Anne-Claude Tabet; Thierry J Molina; Boris Keren; Alice Brooks; Hubert Jm Smeets; Ulrika Marklund; Christopher T Gordon; Stanislas Lyonnet; Jeanne Amiel; Nadège Bondurand
Journal:  J Clin Invest       Date:  2021-03-15       Impact factor: 14.808

Review 4.  Chronic Megacolon Presenting in Adolescents or Adults: Clinical Manifestations, Diagnosis, and Genetic Associations.

Authors:  Xiao Jing Wang; Michael Camilleri
Journal:  Dig Dis Sci       Date:  2019-04-05       Impact factor: 3.199

5.  Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction.

Authors:  Elena Bonora; Francesca Bianco; Lina Cordeddu; Michael Bamshad; Ludmila Francescatto; Dustin Dowless; Vincenzo Stanghellini; Rosanna F Cogliandro; Greger Lindberg; Zeynel Mungan; Kivanc Cefle; Tayfun Ozcelik; Sukru Palanduz; Sukru Ozturk; Asuman Gedikbasi; Alessandra Gori; Tommaso Pippucci; Claudio Graziano; Umberto Volta; Giacomo Caio; Giovanni Barbara; Mauro D'Amato; Marco Seri; Nicholas Katsanis; Giovanni Romeo; Roberto De Giorgio
Journal:  Gastroenterology       Date:  2015-01-06       Impact factor: 22.682

6.  Comment to the Description of a Novel Cohesinopathy in Chronic Intestinal Pseudo Obstruction.

Authors:  Elena Bonora; Francesca Bianco; Roberto De Giorgio
Journal:  J Neurogastroenterol Motil       Date:  2022-07-30       Impact factor: 4.725

7.  Detection of anticonductive tissue autoantibodies in a patient with chronic intestinal pseudo-obstruction and sick sinus syndrome.

Authors:  Giacomo Caio; Umberto Volta; Enrico Cerrato; Paolo Clavenzani; Nicolò Montali; Rosanna Cogliandro; Vincenzo Stanghellini; Pier Giorgio Golzio; Fiorenzo Gaita; Gianrico Farrugia; Roberto De Giorgio
Journal:  Eur J Gastroenterol Hepatol       Date:  2013-11       Impact factor: 2.566

8.  Misato underlies visceral myopathy in Drosophila.

Authors:  Soohong Min; Woongchang Yoon; Hyunho Cho; Jongkyeong Chung
Journal:  Sci Rep       Date:  2017-12-18       Impact factor: 4.379

9.  Delineation of phenotypes and genotypes related to cohesin structural protein RAD21.

Authors:  Lianne C Krab; Iñigo Marcos-Alcalde; Melissa Assaf; Meena Balasubramanian; Janne Bayer Andersen; Anne-Marie Bisgaard; David R Fitzpatrick; Sanna Gudmundsson; Sylvia A Huisman; Tugba Kalayci; Saskia M Maas; Francisco Martinez; Shane McKee; Leonie A Menke; Paul A Mulder; Oliver D Murch; Michael Parker; Juan Pie; Feliciano J Ramos; Claudine Rieubland; Jill A Rosenfeld Mokry; Emanuela Scarano; Marwan Shinawi; Paulino Gómez-Puertas; Zeynep Tümer; Raoul C Hennekam
Journal:  Hum Genet       Date:  2020-03-19       Impact factor: 4.132

  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.