Evaluation of Factor V Leiden, Prothrombin and Methylenetetrahydrofolate Reductase Gene Mutations in Patients with Severe Pregnancy Complications in Northern Finland

2006 ◽  
Vol 62 (1) ◽  
pp. 28-32 ◽  
Author(s):  
J. Jarvenpaa ◽  
M. Pakkila ◽  
E.-R. Savolainen ◽  
A. Perheentupa ◽  
I. Jarvela ◽  
...  
Keyword(s):  
Pregnancy Complications ◽  
Methylenetetrahydrofolate Reductase ◽  
Gene Mutations ◽  
Factor V Leiden ◽  
Factor V ◽  
Reductase Gene ◽  
Methylenetetrahydrofolate Reductase Gene

scholarly journals Factor V Leiden and Thermolabile Methylenetetrahydrofolate Reductase Gene Variants in an East Anglian Preeclampsia Cohort

Hypertension ◽  
1999 ◽  
Vol 33 (6) ◽  
pp. 1338-1341 ◽  
Author(s):  
Kevin M. O’Shaughnessy ◽  
Beiyuan Fu ◽  
Franco Ferraro ◽  
Ian Lewis ◽  
Sarah Downing ◽  
...  
Keyword(s):  
Methylenetetrahydrofolate Reductase ◽  
Factor V Leiden ◽  
Gene Variants ◽  
Factor V ◽  
Reductase Gene ◽  
Methylenetetrahydrofolate Reductase Gene

scholarly journals Pulmonary Embolism in a Sarcoidosis Patient Double Heterozygous for Methylenetetrahydrofolate Reductase Gene Polymorphisms and Factor V Leiden and Homozygous for the D-Allele of Angiotensin Converting Enzyme Gene

2015 ◽  
Vol 2015 ◽  
pp. 1-4
Author(s):  
Nadim El-Majzoub ◽  
Rami Mahfouz ◽  
Nadim Kanj
Keyword(s):  
Pulmonary Embolism ◽  
Gene Polymorphisms ◽  
Methylenetetrahydrofolate Reductase ◽  
Factor V Leiden ◽  
Factor V ◽  
Angiotensin Converting Enzyme Gene ◽  
Converting Enzyme ◽  
Enzyme Gene ◽  
Reductase Gene ◽  
Methylenetetrahydrofolate Reductase Gene

Sarcoidosis is a multisystem granulomatous disease of unknown etiology and pathogenesis. It presents in patients younger than 40 years of age. The lungs are the most commonly affected organ. Till the present day, there is no single specific test that will accurately diagnose sarcoidosis; as a result, the diagnosis of sarcoidosis relies on a combination of clinical, radiologic, and histologic findings. Patients with sarcoidosis have been found to have an increased risk of pulmonary embolism compared to the normal population. MTHFR and factor V Leiden mutations have been reported to increase the risk of thrombosis in patients. We hereby present a case of a middle aged man with sarcoidosis who developed a right main pulmonary embolism and was found to be double heterozygous for methylenetetrahydrofolate reductase gene polymorphisms and factor V Leiden and homozygous for the D-allele of the angiotensin converting enzyme gene.

scholarly journals Etiological factors in young patients with Retinal Vein Occlusion

2019 ◽  
Vol 35 (5) ◽  
Author(s):  
Serhad Nalcaci ◽  
Cumali Degirmenci ◽  
Cezmi Akkin ◽  
Jale Mentes
Keyword(s):  
Gene Mutation ◽  
Methylenetetrahydrofolate Reductase ◽  
Factor V Leiden ◽  
Factor V ◽  
Factor V Leiden Mutation ◽  
Etiological Factors ◽  
Reductase Gene ◽  
Prothrombin Gene Mutation ◽  
Prothrombin Gene ◽  
Methylenetetrahydrofolate Reductase Gene

Objective: To present the etiological factors of patients with Retinal Vein Occlusion (RVO) under the age of 50 years. Methods: The study was conducted at Ege University Medicine Faculty Department of Ophthalmology. The clinical records of patients with RVO under the age of 50 seen between January 2014 and March 2018 were analyzed retrospectively. Forty patients comprised the study. Detailed ophthalmologic examination was performed. Past medical history, drug use, thrombophilic features, hyperviscosity syndromes and pathologies that may cause vasculitis were noted. Results: Forty patients, 22 (55%) male and 18 (45%) female, were included. Mean age was 41.6 ± 10.01 years. Mean intraocular pressure and best-corrected visual acuity were 16.8 ± 5.47mmHg and 0.76 ± 0.64 logMAR, respectively. Hyperhomocystenemia (15 patients, 37.5%), Behçet’s disease (three patients, 7.5%), diabetes and/or hypertension (16 patients, 40%), methylenetetrahydrofolate reductase gene mutation (11 patients, 27.5%), prothrombin gene mutation (four patients, 10%) and factor V Leiden mutation (five patients, 12.5%) were present among the patients as etiological factor. Multiple etiological factors were detected in 11 (27.5%) patients. Factor V Leiden mutation and methylenetetrahydrofolate reductase gene mutation were detected in one patient (2.5%) with Behçet’s disease. Four patients with diabetes and/or hypertension also had hyperhomocystenemia and one of them had additionally prothrombin gene mutation. Two patients with methylenetetrahydrofolate reductase gene mutation also had a factor V Leiden mutation and one of them had additionally a prothrombin gene mutation. Three patients with methylenetetrahydrofolate reductase gene mutation also had hyperhomocystenemia and one patient with prothrombin gene mutation also had methylenetetrahydrofolate reductase gene mutation. Conclusions: Etiological factors that might result in RVO in young individuals should be investigated in detail. Targeted therapies may help to prevent development of new RVOs and potential vascular problems in other organs. doi: https://doi.org/10.12669/pjms.35.5.546 How to cite this:Nalcaci S, Degirmenci C, Akkin C, Mentes J. Etiological factors in young patients with Retinal Vein Occlusion. Pak J Med Sci. 2019;35(5):---------. doi: https://doi.org/10.12669/pjms.35.5.546 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Frequency of Factor V, Prothrombin and Methylenetetrahydrofolate Reductase Gene Variants in Preeclampsia

2002 ◽  
Vol 53 (2) ◽  
pp. 84-87 ◽  
Author(s):  
Angela V. D’Elia ◽  
Lorenza Driul ◽  
Roberta Giacomello ◽  
Roberta Colaone ◽  
Dora Fabbro ◽  
...  
Keyword(s):  
Methylenetetrahydrofolate Reductase ◽  
Gene Variants ◽  
Factor V ◽  
Reductase Gene ◽  
Methylenetetrahydrofolate Reductase Gene

Methylenetetrahydrofolate reductase gene mutations as risk factors for sudden hearing loss

2005 ◽  
Vol 26 (6) ◽  
pp. 383-387 ◽  
Author(s):  
Pasquale Capaccio ◽  
Francesco Ottaviani ◽  
Valeria Cuccarini ◽  
Umberto Ambrosetti ◽  
Enrico Fagnani ◽  
...  
Keyword(s):  
Risk Factors ◽  
Hearing Loss ◽  
Methylenetetrahydrofolate Reductase ◽  
Gene Mutations ◽  
Sudden Hearing Loss ◽  
Reductase Gene ◽  
Methylenetetrahydrofolate Reductase Gene
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