Article
Virology
Aslihan Kiraz, Ozlem Sezer, Adem Alemdar, Sezin Canbek, Nilgun Duman, Atil Bisgin, Tulin Cora, Hatice Ilgin Ruhi, Mahmut Cerkez Ergoren, Bilgen Bilge Geckinli, Sebnem Ozemri Sag, Hilmi Erdem Gozden, Ozlem Oz, Zuhal Mert Altintas, Sinem Yalcintepe, Adem Keskin, Ayseguel Yabaci Tak, Seyma Aktas Paskal, Ugur Fahri Yurekli, Mercan Demirtas, Emine Unal Evren, Abdullah Hanta, Mueserref Basdemirci, Kaya Suer, Burhan Balta, Nadir Kocak, Halil Guerhan Karabulut, Havva Cobanogullari, Esra Arslan Ates, Sevcan Tug Bozdogan, Damla Eker, Sadiye Ekinci, Sueleyman Nergiz, Timur Tuncali, Serap Yagbasan, Ceren Alavanda, Nuket Yurur Kutlay, Hakan Evren, Murat Erdogan, Sule Altiner, Tamer Sanlidag, Gizem Akinci Gonen, Arzu Vicdan, Nazan Eras, Hatice Kocak Eker, Ozgur Balasar, Gulten Tuncel, Munis Dundar, Hakan Gurkan, Sehime Gulsun Temel
Summary: This study examined the impact of hereditary thrombophilia factors Prothrombin (FII) and Factor V Leiden (FVL) genotypes on the severity of COVID-19 disease and the development of thrombosis. FVL gene variation was found to be associated with disease severity and thrombus formation in COVID-19 patients, while Prothrombin mutations had no impact on disease severity. Therefore, possible FVL gene mutations should be investigated in COVID-19 patients and appropriate treatment should be initiated early in FVL-positive patients.
JOURNAL OF MEDICAL VIROLOGY
(2023)
Article
Medicine, General & Internal
Cosmin Adrian Teodoru, Mihnea Munteanu, Nadina Mercea, Alina Moatar, Horia Stanca, Florina Georgeta Popescu, Horatiu Dura, Adrian Hasegan, Doina Ileana Giurgiu, Maria-Emilia Cerghedean-Florea
Summary: This article presents a rare case of Superior Ophthalmic Vein Thrombosis (SOVT) that may be associated with hypercoagulable status. A 77-year-old female patient presented with eye ptosis, chemosis, and conjunctival congestion in the right eye (RE) and was found to have hypertrophy of the right ophthalmic vein and inferior rectus muscle. Further investigations revealed positive results for Factor V Leiden (heterozygous mutation) and methyl-enetetrahydrofolate reductase (MTHFR-C677T homozygous mutations). Immediate systemic treatment with steroids and anticoagulants led to gradual resolution of symptoms and improved visual acuity at follow-up.
Review
Biology
Minerva Codruta Badescu, Lacramioara Ionela Butnariu, Alexandru Dan Costache, Liliana Gheorghe, Petronela Nicoleta Seritean Isac, Adriana Chetran, Sabina Andreea Leanca, Irina Afrasanie, Stefania-Teodora Duca, Eusebiu Vlad Gorduza, Irina Iuliana Costache, Ciprian Rezus
Summary: Factor V Leiden and prothrombin G20210A are the most common hereditary thrombophilias and their relationship with acute myocardial infarction is still uncertain. Screening should be implemented in select cases and followed by optimal control of traditional cardiovascular risk factors for prevention. Extended dual antiplatelet therapy may be considered due to the lower bleeding risk conferred by FV Leiden.
Article
Endocrinology & Metabolism
Lamia M'barek, Salma Sakka, Fatma Meghdiche, Dhaker Turki, Khadija Maalla, Mariem Dammak, Choumous Kallel, Chokri Mhiri
Summary: The study confirmed the involvement of MTHFR polymorphisms as important risk factors for AIS, while the presence of FVL polymorphism or prothrombin G20210A mutation alone is not correlated with stroke occurrence. Patients with both MTHFR and FVL polymorphisms have a synergistic effect, increasing the risk of AIS.
METABOLIC BRAIN DISEASE
(2021)
Article
Multidisciplinary Sciences
Jinghong Rao, Youfang Chen, Xuan Chen, Ruoying Wu, Shimu Luo, Qingfan Lin, Zhenzhu Dong, Jingying Huang
Summary: This study investigated the impact of polymorphisms in the eNOS and MTHFR genes on preeclampsia. The results showed that the frequency of the eNOS -786 C C genotype and MTHFR 677 TT genotype were higher in women with preeclampsia, leading to lower NO levels and higher Hcy levels.
Article
Health Care Sciences & Services
Petra Riedlova, Dagmar Kramna, Silvie Ostrizkova, Hana Tomaskova, Vitezslav Jirik
Summary: Screening for factor V Leiden and factor II prothrombin in young women using ddPCR may effectively prevent TED and be cost-effective in the Czech Republic. The cost-benefit analysis suggests that screening for these genetic risk factors before starting OCs could significantly reduce treatment costs associated with TED.
Article
Developmental Biology
Guifeng Ding, Yan Li, Jianrong Gao, Wenxia Wang, Huijuan Wang, Guiqin Bai
Summary: This study investigated the associations between angiotensinogen, methylenetetrahydrofolate reductase, vascular endothelial growth factor gene polymorphisms, and preeclampsia in the Han Chinese population. The results suggest that a specific variant in the MTHFR gene may increase the risk of preeclampsia in pregnant women, while polymorphisms in the AGT and VEGF genes may not play a significant role in the development of preeclampsia.
Article
Genetics & Heredity
Mihael Tsalta-Mladenov, Mariya Levkova, Silva Andonova
Summary: This meta-analysis investigates the role of inherited thrombophilia predisposition in young adults with ischemic strokes. The results indicate that genetic markers, such as factor V Leiden, factor II prothrombin, protein C, protein S, and antithrombin, are all risk factors for ischemic stroke in this population. The findings suggest that testing for these markers could improve the quality of care.
Article
Medicine, General & Internal
Petronela Vicoveanu, Daniela Cristina Dimitriu, E. Gorduza, Ivona Mitu, Catalina Filip, Demetra Socolov
Summary: The study revealed a significant association between factor V Leiden, MTHFR C667T/A1298C polymorphisms and adverse pregnancy outcomes, such as thrombotic complications, early recurrent pregnancy loss, and intrauterine growth restriction.
MEDICAL-SURGICAL JOURNAL-REVISTA MEDICO-CHIRURGICALA
(2021)
Article
Obstetrics & Gynecology
Sadia Mahmood, Amna Younus, Sammar Nathaniel, Hooria Younas
Summary: This study aimed to investigate the genetic association between MTHFR (A1298C) SNP and preeclampsia (PE) in Punjab, Pakistan. A sample of 80 pregnant women (40 healthy pregnant women and 40 with PE) was genotyped for MTHFR A1298C polymorphism using tetra-primer ARMS PCR. The AC genotype and C allele of MTHFR A1298C were found to be associated with decreased risk of PE.
HYPERTENSION IN PREGNANCY
(2023)
Article
Medicine, Research & Experimental
Frank S. Fan
Summary: Factor V Leiden, a mutant gene defect, exists mainly in Caucasians but is almost absent in Asians. This distribution imbalance may be linked to the Black Death pandemic in fourteenth-century Europe, which exerted selective pressure on the factor V Leiden mutation, providing an evolutionary advantage.
MEDICAL HYPOTHESES
(2023)
Article
Medicine, General & Internal
Abdulghani Msalati, Abdulla Bashein, Murad Ghrew, Ibtesam Khalil, Khaled Sedaa, Abushawashi Ali, Ahmed Zaid
Summary: The study found, for the first time, the presence of FVL and PGM mutations among Libyan DVT and MI patients, with FVL mutation significantly associated with DVT but not with MI. The results do not support the association of PGM G20210A mutation with DVT or MI.
LIBYAN JOURNAL OF MEDICINE
(2021)
Article
Hematology
Beate Luxembourg, Franziska Henke, Anette Kirsch-Altena, Ulrich Sachs, Bettina Kemkes-Matthes
Summary: Double heterozygotes for Factor V Leiden and Prothrombin G20210A exhibit a higher risk of venous thromboembolism in female patients compared to other genotype groups, developing VTE at a younger age. However, there is no significant difference in spontaneous VTE and arterial thromboembolic events compared to other genotypes. Deep vein thrombosis in the lower limb is the predominant VTE location in double heterozygotes.
THROMBOSIS RESEARCH
(2021)
Article
Cardiac & Cardiovascular Systems
Bakhtawar K. Mahmoodi, Niclas Eriksson, Gerrit J. A. Vos, Karina Meijer, Agneta Siegbahn, Stefan James, Lars Wallentin, Jurrien M. ten Berg
Summary: In patients with acute coronary syndrome, factor V Leiden mutation does not increase the risk of ST-segment-elevation myocardial infarction (STEMI) or affect peak cardiac necrosis markers levels.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2021)
Article
Genetics & Heredity
Mai M. Shaker, Manal M. Thomas, Taghreed A. Shalabi
Summary: The study aimed to assess the frequency of three thrombophilic mutations among Egyptian couples with recurrent pregnancy loss (RPL) and found that Factor V Leiden (FVL) mutation was significantly associated with RPL, while MTHFR A1298C and PT G2010A were not. Having multiple thrombophilic mutations and consanguinity were significantly associated with RPL couples.
Article
Biochemistry & Molecular Biology
Mahnaz Sandoughi, Saeedeh Salimi, Hossein Shahraki-Ghadimi, Mohsen Saravani
BIOCHEMICAL GENETICS
(2020)
Article
Medical Laboratory Technology
Z. Heidari, M. Eskandari, A. Aryan, F. Rostamzad, S. Salimi
BRITISH JOURNAL OF BIOMEDICAL SCIENCE
(2020)
Article
Medical Laboratory Technology
M. Asadi-Tarani, M. Saravani, B. Teimoori, M. Ghasemi, S. Salimi
BRITISH JOURNAL OF BIOMEDICAL SCIENCE
(2020)
Article
Medical Laboratory Technology
R. Maruei-Milan, Z. Heidari, A. Aryan, M. Asadi-Tarani, S. Salimi
Summary: Certain ANRIL SNPs haplotypes are associated with papillary thyroid cancer, with AAAC haplotype showing a protective effect while CAAC and CAGT haplotypes are associated with cancer. rs1333048 and rs4977574 variants are linked to tumor size, while rs10757274 and rs1333040 variants might lead to different cancer stages.
BRITISH JOURNAL OF BIOMEDICAL SCIENCE
(2021)
Article
Biotechnology & Applied Microbiology
Nourollah Ramroodi, Azar Khorrami, Seyed Mehdi Hashemi, Mahnaz Rezaei, Hossein Shahraki-Ghadim, Saeedeh Salimi
Summary: The study found an association between RNLS rs10887800 but not rs2576178 polymorphism with IS susceptibility in the overdominant model.
Article
Obstetrics & Gynecology
Saeedeh Salimi, Saman Sargazi, Milad Heidari Nia, Fariba Mirani Sargazi, Marzieh Ghasemi
Summary: The study found an association between HOTAIR gene polymorphisms and susceptibility to recurrent spontaneous abortion (RSA) in Iranian women, with certain polymorphisms increasing the risk while others decreasing it. Specific haplotypes were also linked to an increased risk of RSA.
JOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH
(2021)
Article
Genetics & Heredity
Saeedeh Salimi, Saman Sargazi, Armin Zahedi Abghari, Milad Heidari Nia, Marzieh Ghasemi, Narjes Keikha
Summary: The study reveals a strong protective effect of miR29a rs157907A/G polymorphism against RSA, unaffected by age and Body Mass Index. Bioinformatic analysis shows that miR-29a targets genes involved in cell cycles, angiogenic signaling, and apoptosis of trophoblastic cells.
Article
Biotechnology & Applied Microbiology
Zahra Heidari, Saeedeh Salimi, Mohsen Rokni, Mahnaz Rezaei, Neshat Khalafi, Mahdieh Jafari Shahroudi, Azizallah Dehghan, Mohsen Saravani
Summary: The study found significant associations between IL-1 beta rs1143634 gene SNP and HT development risk, as well as COX-2 rs2745557 gene SNP and HT development. It also showed that IL-1 beta rs1143634 SNP plays a role in GD risk, while there was no significant association with NLRP3 rs3806265 gene polymorphism in the development of HT and GD.
BIOMED RESEARCH INTERNATIONAL
(2021)
Article
Biotechnology & Applied Microbiology
Saeedeh Salimi, Saman Sargazi, Behrouz Mollashahi, Milad Heidari Nia, Shekoufeh Mirinejad, Mahdi Majidpour, Marzieh Ghasemi, Sara Sargazi
Summary: This study found that three functional miR146a gene polymorphisms are associated with the susceptibility to idiopathic recurrent spontaneous miscarriage (IRSM). Among them, rs6864584 T/C decreased the risk of IRSM, while rs2961920 A/C and rs57095329 A/G increased the risk. Haplotype analysis also showed that the ACA genotype combination reduced the risk of IRSM.
Article
Medical Laboratory Technology
Shaghayegh Saljooghi, Zahra Heidari, Mohsen Saravani, Mahnaz Rezaei, Saeedeh Salimi
Summary: This study found an association between AXIN1 rs12921862 C/A and rs1805105 G/A polymorphisms and PTC susceptibility, with the rs1805105 G/A polymorphism being associated with larger tumor size.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2023)
Article
Nutrition & Dietetics
Maryam Saberi-Karimian, Hamideh Ghazizadeh, Mehdi Zanganeh Baygi, Mina Minaie, Farzaneh Sadeghi, Hamed Pouraram, Ibrahim Elmadfa, Habibollah Esmaily, Majid Khadem Rezaian, Shima Tavallaei, Maryam Mohammadi Bajgiran, Reza Zare Feyz-abadi, Ameneh Timar, Payam Sharifan, HamidReza Bahrami Taghanaki, Mahdi Gholian, Seyed Kazem Farahmand, Zahra Abasalti, Ehsan Mousa Farkhani, Abbas Akhgari, AliAsghar Smailzadeh, Hassan Izanloo, Mohammad Nikpour, Aliakbar Haghveysi, Abolfazl Mohammadkarimi, Ali Yaghoubi, Alireza Rahimi, Seyed Mehdi Tabatabaei, Khodadad Sheikhzadeh, Mahdieh Sheikhi, Fatemeh Shahraki, Farzaneh Farajian, Mostafa Salehizadeh, Mahnaz Khanavi, Farzaneh Ghanouni, Sara Goudarzi, Gordon A. Ferns, Zahra Abdollahi, Majid Ghayour-Mobarhan
Summary: This study evaluated the coverage, supplement taking, and efficacy of the vitamin D program in Iran since 2014. The results showed that the availability and accessibility of vitamin D supplements were high among elderly and middle-aged subjects, but the acceptance rate was low. High school students had high coverage and acceptance rates. Lack of knowledge was the main reason for not taking vitamin D supplements.
CLINICAL NUTRITION ESPEN
(2023)
Article
Biochemistry & Molecular Biology
Mohsen Maleki, Mansour Karajibani, Mohsen Sarvani, Farzaneh Montazerifar, Saeedeh Salimi, Zahra Heidari
Summary: The study found a significant association between adiponectin rs2241766 polymorphism and PTC, while there was no significant relationship between adiponectin rs266729 polymorphism and the risk of PTC.
MOLECULAR BIOLOGY RESEARCH COMMUNICATIONS
(2022)
Article
Biochemistry & Molecular Biology
Shaghayegh Saljooghi, Zahra Heidari, Mohsen Saravani, Mahnaz Rezaei, Saeedeh Salimi
Summary: The study found no association between FOXO1 rs17592236 polymorphism and Papillary thyroid carcinoma (PTC). However, the variant was associated with a larger tumor size (>= 1 cm) only in the log-additive model.
REPORTS OF BIOCHEMISTRY AND MOLECULAR BIOLOGY
(2022)