Methylenetetrahydrofolate reductase polymorphism in a case with atrial septal defect, deep venous thrombosis, thromboembolism and recurrent spontaneous abortion

2012 ◽  
Vol 20 (4) ◽  
pp. 907-909
Author(s):  
Adem Güler
Keyword(s):  
Venous Thrombosis ◽  
Deep Venous Thrombosis ◽  
Atrial Septal Defect ◽  
Spontaneous Abortion ◽  
Septal Defect ◽  
Methylenetetrahydrofolate Reductase ◽  
Recurrent Spontaneous Abortion

scholarly journals Paradoxical embolism: a rare life- and limb-threatening emergency

CJEM ◽  
2004 ◽  
Vol 6 (01) ◽  
pp. 40-44 ◽  
Author(s):  
Christine E. Tang
Keyword(s):  
Pulmonary Embolism ◽  
Venous Thrombosis ◽  
Deep Venous Thrombosis ◽  
Atrial Septal Defect ◽  
Emergency Management ◽  
Septal Defect ◽  
Paradoxical Embolism

ABSTRACT This article presents a case of a 43-year-old man with paradoxical embolism. The patient had simultaneous deep venous thrombosis, pulmonary embolism and bilateral limb-threatening arterial occlusions. The unifying diagnosis was paradoxical embolism through a previously undetected atrial septal defect. Suggestions for the evaluation and emergency management of paradoxical embolism are outlined, and the literature is briefly reviewed.

scholarly journals Association of anticardiolipin antibody and C677T in methylenetetrahydrofolate reductase mutation in women with recurrent spontaneous abortions: a new path to thrombophilia?

2005 ◽  
Vol 123 (1) ◽  
pp. 15-20 ◽  
Author(s):  
Egle Couto ◽  
Ricardo Barini ◽  
Renata Zaccaria ◽  
Joyce Maria Annicchino-Bizzacchi ◽  
Renato Passini Junior ◽  
...  
Keyword(s):  
Spontaneous Abortion ◽  
Methylenetetrahydrofolate Reductase ◽  
Factor V Leiden ◽  
Anticardiolipin Antibody ◽  
Mthfr Gene ◽  
Recurrent Spontaneous Abortion ◽  
Enzyme Linked Immunosorbent Assay ◽  
Inherited Thrombophilia ◽  
C677t Mutation ◽  
Fertile Women

CONTEXT: Recurrent spontaneous abortion (RSA) has been associated with venous thrombosis in the mother. Acquired and inherited thrombophilia factors are possible causes. OBJECTIVE: To evaluate the association between thrombogenic factors and recurrent spontaneous abortion. TYPE OF STUDY: Case-control study. SETTING: Centro de Atenção Integral à Saúde da Mulher, Universidade Estadual de Campinas. METHODS: 40 ml of blood was collected from 88 women attending an RSA clinic and 88 fertile women attending a family planning clinic, to evaluate the presence of acquired and inherited thrombophilia factors. Anticardiolipin antibodies (ACA), lupus anticoagulant and deficiencies of proteins C and S and antithrombin III were evaluated by enzyme-linked immunosorbent assay (ELISA), dilute Russell Viper Venom time (dRVVT), coagulometric and chromogenic methods. DNA was amplified by the polymerase chain reaction (PCR) to study factor V Leiden and G20210A mutations in the prothrombin gene and C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene. Data were analyzed using odds ratios and a regression model for age adjustment. Fisher’s exact test was used to evaluate statistical relationships between associated factors and RSA. RESULTS: ACA was detected in 11 women with RSA and one fertile woman. Heterozygous C677T was detected in 59 women with RSA and 35 fertile women. Concomitant presence of ACA and C677T was found in eight women with RSA and no fertile women (p < 0.01). DISCUSSION: The meaning of the association between C677T mutation in the MTHFR gene and ACA is still not clear. It is possible that an inherited factor that alone would not strongly predispose a woman to thrombosis could, when associated with an acquired factor, start the process and increase the likelihood of thrombosis expression. CONCLUSIONS: ACA and C677T in the MTHFR gene are statistically associated with RSA. The association of these two conditions is a new finding in thrombogenic factors and RSA.

scholarly journals Methylenetetrahydrofolate reductase (MTHFR-677 and MTHFR-1298) genotypes and haplotypes and plasma homocysteine levels in patients with occlusive artery disease and deep venous thrombosis.

2008 ◽  
Vol 55 (3) ◽  
pp. 587-594 ◽  
Author(s):  
Igor Spiroski ◽  
Sashko Kedev ◽  
Slobodan Antov ◽  
Todor Arsov ◽  
Marija Krstevska ◽  
...  
Keyword(s):  
Plasma Concentration ◽  
Venous Thrombosis ◽  
Deep Venous Thrombosis ◽  
Methylenetetrahydrofolate Reductase ◽  
Mthfr C677t ◽  
P Value ◽  
Plasma Thcy ◽  
Total Homocysteine ◽  
Artery Disease ◽  
Student’S T

The aim was to investigate different genotypes and haplotypes of methylenetetrahydrofolate reductase (MTHFR-677, -1298) and plasma concentration of total homocysteine (tHcy) in Macedonian patients with occlusive artery disease (OAD) and deep venous thrombosis (DVT). Investigated groups consists of 80 healthy, 74 patients with OAD, and 63 patients with DVT. Plasma tHcy was measured with Microplate Enzyme Immunoassay. Identification of MTHFR genotypes and haplotypes was done with CVD StripAssay. The probability level (P-value) was evaluated by the Student's t-test. Plasma concentration of tHcy in CC and CT genotypes of MTHFR C677T was significantly increased in patients with OAD and in patients with DVT. Plasma concentration of tHcy in AC genotype of MTHFR A1298C was increased in patients with OAD and in patients with DVT. Plasma concentration of tHcy was significantly increased in AA genotype of patients with OAD, but not in patients with DVT. We found a significant increase of plasma tHcy in patients with OAD in comparison with healthy respondents for normal:heterozygote (CC:AC), heterozygote:normal (CT:AA), and heterozygote:heterozygote (CT:AC) haplotypes. Plasma concentration of tHcy in patients with DVT in comparison with healthy respondents was significantly increased for normal:normal (CC:AA), normal heterozygote (CC:AC), and heterozygote:heterozygote (CT:AC) haplotypes. We conclude that MTHFR C677T and MTHFR A1289C genotypes and haplotypes are connected with tHcy plasma levels in Macedonian patients with OAD and DVT.

scholarly journals Right Atrial Mass Mimicking a Myxoma as a First Presentation of Antiphospholipid Syndrome

2019 ◽  
Vol 22 (6) ◽  
pp. E445-E447
Author(s):  
Nael Al-Sarraf ◽  
Abouelmakarem Abdelmoaty ◽  
Sameh Abu alam ◽  
Jamal Al-Fadhli
Keyword(s):  
Venous Thrombosis ◽  
Spontaneous Abortion ◽  
Antiphospholipid Syndrome ◽  
Recurrent Spontaneous Abortion ◽  
Right Atrial ◽  
Atrial Mass ◽  
Right Atrial Mass

Antiphospholipid syndrome is characterized by recurrent spontaneous abortion, recurrent arterial/venous thrombosis, and thrombocytopenia. The presentation of an atrial mass mimicking a myxoma in this syndrome is exceedingly rare, leading to misdiagnosing of the condition and further risking recurrence due to lack of anticoagulation. In this report, we present such a case that was mistakenly thought to be a myxoma.

scholarly journals Two polymorphisms in methylenetetrahydrofolate reductase gene (C677T and A1298C) frequently associated with recurrent spontaneous abortion show no association in Saudi women

BIOCELL ◽  
2020 ◽  
Vol 44 (4) ◽  
pp. 613-621
Author(s):  
AFRAH ALKHURIJI ◽  
ATEKAH ABDULLAH MOHAMMED ALRAQIBAH ◽  
AMAAL AWAD ALHARBI ◽  
ZENEB BABAY ◽  
FATIMAH BASIL AL-MUKAYNIZI ◽  
...  
Keyword(s):  
Spontaneous Abortion ◽  
Methylenetetrahydrofolate Reductase ◽  
Recurrent Spontaneous Abortion ◽  
Saudi Women ◽  
Reductase Gene ◽  
Methylenetetrahydrofolate Reductase Gene
Sign in / Sign up

Export Citation Format

Share Document