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

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. Case Presentation. We reported a full-term female, born by normal spontaneous vaginal delivery who was found to have a swollen, blue left upper limb in the delivery room. Left upper limb computed tomography angiography (CTA) revealed left subclavian artery thrombosis. Investigations for the risk revealed heterozygosity for the MTHFR (C667T) polymorphism. Left upper limb amputation was done after the failure of medical management. 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.

Developing risk models and subtypes of autophagy-associated LncRNAs for enhanced prognostic prediction and precision in therapeutic approaches for liver cancer patients

“…Over the past few years, the research on the association of HCC with autophagy has been increasing [ 33 ]. For example, CD24 changes sorafenib resistabyough activating autophagy in HCC [ 34 ]. CHD1L enhances autophagy-mediated migration of HCC via ZKSCAN3 [ 35 ].…”

Regional distribution of the MTHFR C677T polymorphism in Chinese females

“…Inclusion criteria: ① Published within the last 6 years (2016-2021); ② The subjects were Chinese females; ③ Reports on the frequency of MTHFR C677T in this region; ④ The data were consistent with Hardy-Weinberg genetic equilibrium. Exclusion criteria: ① Incomplete data (Al Hammouri et al, 2022); Repeated published studies (literature with publications based on the same population sample) (Tinelli et al, 2019); The design of the included samples, such as cohort studies or case-control studies (Al Mutairi, 2020); Non-original studies such as reviews or metaanalyses.…”

“…Polymorphisms of A1298C are common in Europe and North America and are rare in Asia (1%-4%). This change causes glutamate at the 249th position to be replaced by alanine, which affects the MTHFR activity and thermal stability, also leading to hyperhomocysteinemia (Chango et al, 2000;Al Hammouri et al, 2022).…”