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Articles Published Processes
3/26/2020 3:19:09 AM | Browse: 810 | Download: 1115
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Received |
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2019-11-14 03:58 |
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Peer-Review Started |
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2019-11-14 03:59 |
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To Make the First Decision |
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Return for Revision |
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2019-12-23 17:39 |
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Revised |
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2019-12-31 05:09 |
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Second Decision |
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2020-01-18 10:10 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2020-01-18 18:59 |
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Articles in Press |
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2020-01-18 18:59 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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2020-03-10 10:02 |
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Typeset the Manuscript |
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2020-03-23 02:12 |
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Publish the Manuscript Online |
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2020-03-26 03:19 |
| ISSN |
2307-8960 (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: http://creativecommons.org/licenses/by-nc/4.0/ |
| Copyright |
© The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved. |
| Article Reprints |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
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| 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 |
| Category |
Cardiac & Cardiovascular Systems |
| Manuscript Type |
Case Report |
| Article Title |
Metabolic and genetic assessments interpret unexplained aggressive pulmonary hypertension induced by methylmalonic acidemia: A case report
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Hong-Yu Liao, Xiao-Qing Shi and Yi-Fei Li |
| ORCID |
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| Funding Agency and Grant Number |
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| Corresponding Author |
Yi-Fei Li, MD, Associate Professor, Department of Pediatrics and Ministry of Education Key Laboratory of Women and Children's Diseases and Birth Defects, West China Second University Hospital, Sichuan University, No. 20, 3rd section, South Renmin Road, Chengdu 610041, Sichuan Province, China. liyfwcsh@scu.edu.cn |
| Key Words |
Pulmonary hypertension; Methylmalonic acidemia; Genomic sequence; Metabolic disorder; Case report; |
| Core Tip |
This report describes a case who suffered an aggressive pulmonary hypertension (PH) as her first onset manifestation. Following the routine diagnostic and therapeutic procedure, we failed to address any abnormalities which could explain the origins of PH. However, taking the advantage of metabolic screening and genome sequencing, we achieved the diagnosis of methylmalonic acidemia and revealed that the severe PH is secondary to methylmalonic acidemia, which was not mentioned among several guidelines of PH. Although metabolic and genome screenings have been recommended in guideline, this case brought our reconsideration to the timing for perform metabolic and genomic screenings. So that, we would like to mention that for some aggressive unexplained PH patients who meets the criteria, such screening procedure should be applied in an earlier stage to prevent putting the patients into irreversible conditions. |
| Publish Date |
2020-03-26 03:19 |
| Citation |
Liao HY, Shi XQ, Li YF. Metabolic and genetic assessments interpret unexplained aggressive pulmonary hypertension induced by methylmalonic acidemia: A case report. World J Clin Cases 2020; 8(6): 1137-1141 |
| URL |
https://www.wjgnet.com/2307-8960/full/v8/i6/1137.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v8.i6.1137 |
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