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Publication Name World Journal of Clinical Cases
Manuscript ID 52699
Country/Territory China
Received
2019-11-14 03:58
Peer-Review Started
2019-11-14 03:59
To Make the First Decision
Return for Revision
2019-12-23 17:39
Revised
2019-12-31 05:09
Second Decision
2020-01-18 10:10
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2020-01-18 18:59
Articles in Press
2020-01-18 18:59
Publication Fee Transferred
Edit the Manuscript by Language Editor
2020-03-10 10:02
Typeset the Manuscript
2020-03-23 02:12
Publish the Manuscript Online
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.
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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
Manuscript Source Unsolicited Manuscript
All Author List Hong-Yu Liao, Xiao-Qing Shi and Yi-Fei Li
ORCID
Author(s) ORCID Number
Hong-Yu Liao http://orcid.org/0000-0001-9673-4372
Xiao-Qing Shi http://orcid.org/0000-0003-3024-2820
Yi-Fei Li http://orcid.org/0000-0002-3096-4287
Funding Agency and Grant Number
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
Full Article (PDF) WJCC-8-1137.pdf
Full Article (Word) WJCC-8-1137.docx
CARE Checklist–2016 52699-CARE-Checklist–2016-revision.pdf
Manuscript File 52699-Review-Ma JY.docx
Answering Reviewers 52699-Answering reviewers.pdf
Audio Core Tip 52699-Audio core tip.mp3
Conflict-of-Interest Disclosure Form 52699-CARE Checklist (2016).pdf
Copyright License Agreement 52699-Copyright license agreement.pdf
Signed Informed Consent Form(s) or Document(s) 52699-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate 52699-Language certificate.pdf
Peer-review Report 52699-Peer-review(s).pdf
Scientific Misconduct Check 52699-Scientific misconduct check.pdf
Scientific Editor Work List 52699-Scientific editor work list.pdf