Evidence map›Paper›PMID 36313901›Full record

ArticleCase reports in pediatrics2022

Intrauterine Limb Ischemia in Patient Heterozygous for the 677C>T) RS1801133 (Polymorphism of Methylenetetrahydrofolate Reductase MTHR Gene.

Ahmad Al Hammouri, Rami A Misk, Hamza Abumunshar, Fawzy M Abunejma, Tasnim S Idrees, Mahmoud Abu Arqoub, Deiaa Malhis, Abdullah Shroof, Tareq Z Alzughayyar

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In one paragraph

Article in Case reports in pediatrics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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2citing papers in PubMed
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What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Ahmad Al HammouriCollege of Medicine and Health Sciences, Palestine Polytechnic University, Hebron, State of Palestine.
Rami A MiskCollege of Medicine and Health Sciences, Palestine Polytechnic University, Hebron, State of Palestine.ORCID https://orcid.org/0000-0002-6376-8805
Hamza AbumunsharCollege of Medicine and Health Sciences, Palestine Polytechnic University, Hebron, State of Palestine.
Fawzy M AbunejmaDepartment of Plastic and Reconstructive Surgery, Hamad General Hospital, Hamad Medical Corporation, Doha, Qatar.
Tasnim S IdreesDepartment of Plastic and Reconstructive Surgery, Hamad General Hospital, Hamad Medical Corporation, Doha, Qatar.
Mahmoud Abu ArqoubCollege of Medicine and Health Sciences, Palestine Polytechnic University, Hebron, State of Palestine.
Deiaa MalhisCollege of Medicine and Health Sciences, Palestine Polytechnic University, Hebron, State of Palestine.
Abdullah ShroofCollege of Medicine and Health Sciences, Palestine Polytechnic University, Hebron, State of Palestine.
Tareq Z AlzughayyarCollege of Medicine and Health Sciences, Palestine Polytechnic University, Hebron, State of Palestine.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Intrauterine arterial thrombosis is extremely rare. Multiple inherited coagulopathies were found to be associated with thrombophilia and an increased risk of intrauterine arterial thrombosis. Methylenetetrahydrofolate reductase MTHFR (C667T) polymorphism was found to be associated with mild hyper-homocysteinemia, which, in turn, can promote thrombotic complications. Materials and Methods: We reported a case of intrauterine upper limb ischemia in a neonate who was found to be heterozygous for the 677C > T polymorphism of the MTHFR gene despite the dispute regarding its clinical significance as a risk of arterial thrombosis. We also reviewed the literature and summarized the clinical features, treatment, and prognosis of similar cases. Conclusion: Despite the conflict about whether heterozygosity for MTHFR (C667T) polymorphism increases the risk of arterial thrombosis or not, there are few cases in the literature presented with intrauterine upper limb ischemia and were found to be heterozygous for the mutation. We recommend investigating neonates and their parents for complete thrombophilia mutations when they present with unusual vascular occlusion sites as newborns.

Identifiers

PMID36313901
PMCPMC9616673

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