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Articles in Press
5/9/2025 8:29:10 AM | Browse: 26 | Download: 0
Category |
Genetics & Heredity |
Manuscript Type |
Case Report |
Article Title |
Hereditary chronic intestinal pseudo-obstruction caused by a rare MYH11 mutation: A case report
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Manuscript Source |
Unsolicited Manuscript |
All Author List |
Shan Jiang, Ya-Xuan Zhou, Xiao-Hong Sun, Pei-Pei Chen, Hao Tang, Yang Chen, Ya-Ping Liu, Yi-Xuan Li and Lin Kang |
Funding Agency and Grant Number |
Funding Agency |
Grant Number |
National High Level Hospital Clinical Research Funding |
2022-PUMCH-B-129 |
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Corresponding Author |
Lin Kang, Chief Physician, MD, PhD, Department of Geriatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, No 1 Shuaifuyuan, Dongcheng District, Beijing 100730, China. kangl@pumch.cn |
Key Words |
Rare disease; Chronic intestinal pseudo-obstruction; Gastrointestinal motility disorder; MYH11; Case report |
Core Tip |
Chronic intestinal pseudo-obstruction (CIPO) is a rare disorder, characterized by severe impairments of gastrointestinal motility. This case involves an elderly male with an insidious onset during adolescence and a disease course spanning several decades, who experienced two episodes of intestinal obstruction requiring ileocecal resection. The histopathological findings confirmed the diagnosis of CIPO. Whole-exome sequencing identified a rare heterozygous MYH11 mutation [NM_001040113.2: C.5819del (p.Pro1940HisfsTer91)], confirming the diagnosis of hereditary myopathic CIPO. This case provides evidence to support the role of MYH11 variants in the CIPO phenotype. |
Citation |
Jiang S, Zhou YX, Sun XH, Chen PP, Tang H, Chen Y, Liu YP, Li YX, Kang L. Hereditary chronic intestinal pseudo-obstruction caused by a rare MYH11 mutation: A case report. World J Gastrointest Surg 2025; In press |
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Received |
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2025-03-19 13:04 |
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Peer-Review Started |
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2025-03-19 13:04 |
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To Make the First Decision |
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Return for Revision |
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2025-03-30 01:07 |
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Revised |
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2025-04-12 04:42 |
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Second Decision |
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2025-05-09 02:46 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2025-05-09 08:29 |
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Articles in Press |
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2025-05-09 08:29 |
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Publication Fee Transferred |
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2025-04-14 08:25 |
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Edit the Manuscript by Language Editor |
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Typeset the Manuscript |
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ISSN |
1948-9366 (online) |
Open Access |
This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/ |
Copyright |
© The Author(s) 2025. Published by Baishideng Publishing Group Inc. All rights reserved. |
Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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Publisher |
Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA |
Website |
http://www.wjgnet.com |
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