scholarly journals Investigation of the relationship between inherited thrombophilia and novel coronavirus pneumonia

2021 ◽  
Author(s):  
Aslihan Kiraz ◽  
Seda Guzeldag ◽  
Esma Eren ◽  
Musa Goksu ◽  
Arslan Bayram
Keyword(s):  
Factor V Leiden ◽  
Control Group ◽  
Healthy Population ◽  
Factor V ◽  
Nucleotide Polymorphisms ◽  
Healthy Control ◽  
Prothrombin Gene ◽  
Novel Coronavirus ◽  
Relationship Of ◽  
The Relationship

Aim: This study aimed to investigate the relationship between severe novel coronavirus pneumonia (NCP) and hypercoagulable conditions that predispose patients to thrombosis such as the prothrombin gene ( F2) rs1799963 (G20210A), factor V Leiden ( F5) rs6025 (G1691A) and PAI-1 (rs1799768). Patients: NCP-diagnosed 62 previously healthy patients were enrolled for the investigation of the thrombophilia-related polymorphisms. Materials & methods: The frequency of genotypes were compared with healthy control group frequencies from other studies. Results: There were no statistically significant differences between the severe patient group and the healthy population regarding the investigated single nucleotide polymorphisms (SNPs). Conclusion: This study is the first to rule out the relationship of rs1799963, rs6025 and rs1799768 with severe NCP.

The Investigation of the Relationship Between the Inherited Thrombophilia and Novel Coronavirus Pneumonia

2020 ◽  
Author(s):  
Aslihan Kiraz ◽  
Seda Guzeldag ◽  
Esma Eren ◽  
Musa Goksu ◽  
Arslan Bayram
Keyword(s):  
Genetic Factors ◽  
Factor V Leiden ◽  
Turkish Population ◽  
World Health ◽  
Control Group ◽  
Healthy Population ◽  
Factor V ◽  
Novel Coronavirus ◽  
The Relationship ◽  
Pai 1

Abstract Purpose: Novel coronavirus pneumonia (NCP) is a disease caused by severe acute respiratory syndrome coronavirus 2 virus. It was reported that there is a relationship between severe NCP and hypercoagulable conditions that predispose patients to thrombosis. Thrombophilia is a multifactor condition that can result from genetic factors, acquired factors, or a combination of both. The prothrombin gene (F2 rs1799963 known as G20210A), Factor V Leiden (F5 rs6025 known as G1691A) and PAI-1 (rs1799768) are important polymorphic biomarkers of thrombophilia that are investigated in severe NCP patients within this study.Methods: NCP-diagnosed 62 previously healthy male patients (mean age 38.83±11.04) without any chronic disease were enrolled in this study for the investigation of the well-known thrombophilia-related abovementioned polymorphisms. The diagnosis of NCP was made according to the World Health Organization interim guidance and confirmed by RNA detection. SNPs were detected by real-time PCR. The frequency of genotypes was compared with healthy control group frequencies from other studies performed in the Turkish population.Results: There were no statistically significant differences between the severe patient group and the healthy population regarding the investigated SNPs.Conclusion: This study is the first to rule out the relationship of rs1799963 (FII), rs6025 (FV) and rs1799768 (PAI-1) with severe NCP. As there is an obvious relation between severe NCP and genetic thrombophilia susceptibility, studies focused on other thrombophilia-related genetic factors and this disease must be performed.

scholarly journals THE PREVALENCE OF CELIAC DISEASE AMONG PATIENTS WITH FAMILIAL MEDITERRANEAN FEVER

2015 ◽  
Vol 52 (1) ◽  
pp. 55-58 ◽  
Author(s):  
Sedat IŞIKAY ◽  
Nurgül IŞIKAY ◽  
Halil KOCAMAZ
Keyword(s):  
Celiac Disease ◽  
Familial Mediterranean Fever ◽  
Tissue Transglutaminase ◽  
Control Group ◽  
Marsh Type ◽  
Significant Difference ◽  
Healthy Control ◽  
Mediterranean Fever ◽  
Relationship Of ◽  
The Relationship

Background Familial Mediterranean Fever and celiac disease are both related to auto-inflammation and/or auto-immunity and they share some common clinical features such as abdominal pain, diarrhea, bloating and flatulence. Objectives We aimed to determine the association of these two diseases, if present. Methods Totally 112 patients diagnosed with Familial Mediterranean Fever and 32 cases as healthy control were included in the study. All participants were examined for the evidence of celiac disease, with serum tissue transglutaminase IgA levels (tTG IgA). Results Totally 144 cases, 112 with Familial Mediterranean Fever and 32 healthy control cases were included in the study. tTG IgA positivity was determined in three cases with Familial Mediterranean Fever and in one case in control group. In that aspect there was no significant difference regarding the tTG IgA positivity between groups (P=0.81). Duodenum biopsy was performed to the tTG IgA positive cases and revealed Marsh Type 3b in two Familial Mediterranean Fever cases and Marsh Type 3c in the other one while the biopsy results were of the only tTG IgA positive case in control group was Marsh Type 3b. In HLA evaluation of the celiac cases; HLA DQ2 was present in two celiac cases of the Familial Mediterranean Fever group and in the only celiac case of the control group while HLA DQ8 was present in one celiac case of the Familial Mediterranean Fever group. Conclusions We did not determine an association of Familial Mediterranean Fever with celiac disease. Larger studies with subgroup analysis are warranted to determine the relationship of these two diseases.

The relationship of a Prothrombin G20210A mutation or a factor V Leiden mutation and on-aspirin platelet (re-)activity

2020 ◽  
Vol 19 ◽  
pp. 127-130
Author(s):  
Jeske J.K. van Diemen ◽  
Jeske M. Bij de Weg ◽  
Arda Arduç ◽  
Olivier Veraart ◽  
David Mager ◽  
...  
Keyword(s):  
Factor V Leiden ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Factor V Leiden Mutation ◽  
G20210a Mutation ◽  
Relationship Of ◽  
The Relationship

Prothrombin 20210G>A is an ancestral prothrombotic mutation that occurred in whites approximately 24 000 years ago

Blood ◽  
2006 ◽  
Vol 107 (12) ◽  
pp. 4666-4668 ◽  
Author(s):  
Ariella Zivelin ◽  
Ronit Mor-Cohen ◽  
Victoria Kovalsky ◽  
Nurit Kornbrot ◽  
Jacqueline Conard ◽  
...  
Keyword(s):  
Factor V Leiden ◽  
Wide Distribution ◽  
Factor V ◽  
Nucleotide Polymorphisms ◽  
Founder Effects ◽  
Single Nucleotide ◽  
Linkage Disequilibria ◽  
Last Glaciation ◽  
Prothrombin Gene ◽  
Credible Set

Abstract Prothrombin 20210G>A and factor V Leiden are common prothrombotic mutations in whites for which founder effects have been established. In this study, we analyzed the frequencies of 5 single nucleotide polymorphisms (SNPs) and 9 microsatellites flanking the prothrombin gene (F2) in 88 homozygotes for 20210A and 66 homozygotes for 20210G. For estimating the age of the prothrombin 20210G>A mutation, we used the DMLE+2.0 program, which analyzed linkage disequilibria between the mutation and the multiple markers that had been assessed. This analysis yielded an age estimate of 23 720 years (95% credible set, 19 080-31 340 years). A similar analysis by the DMLE+2.0 program was performed on 5 SNPs from previously studied homozygotes for factor V Leiden and controls that yielded an age estimate of 21 340 years (95% credible set, 16 880-29 480 years). The occurrence of the 2 mutations in whites toward the end of the last glaciation and their presently wide distribution in whites suggest selective evolutionary advantages for which some evidence was reported (diminished blood loss) or is controversial (protection against infections).

Association of factor V Leiden G1691A and prothrombin gene G20210A mutations with adverse pregnancy outcomes

2021 ◽  
pp. 1-15
Author(s):  
Sidra Asad Ali ◽  
Bushra Moiz ◽  
Lumaan Sheikh
Keyword(s):  
Gene Mutation ◽  
Pregnancy Outcomes ◽  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Factor V Leiden ◽  
Control Group ◽  
Factor V ◽  
Prothrombin Gene Mutation ◽  
Prothrombin Gene ◽  
Adverse Pregnancy

Abstract Objective: To determine the association of Factor V Leiden / prothrombin gene mutation in Pakistani women with adverse pregnancy outcomes. Method: The prospective study was conducted at the Aga Khan University Hospital, Karachi, from January 1 to December 31, 2016, and comprised females ?40 years having history of two or more foetal losses with no apparent aetiology. Restriction fragment length polymorphism- Polymerase chain reaction was performed using MnlI and HindIII restriction enzymes for factor V Leiden G1691A and prothrombin gene mutation G20210A. Females with two or more consecutive normal pregnancies were enrolled as the control group. Data was analysed using SPSS 19. Results: Of the 172 participants with a mean age of 29.3±5.9 years (range: 19-38 years). 86(50%) each were healthy controls and those with recurrent pregnancy loss. There were 238 livebirths among the controls compared to 13 in the other group. Factor V Leiden G1691A was identified in 2(2.3%) women, and prothrombin gene mutation G20210A in 1(1.2%) woman in the patient group, while no mutation was identified in the control group. Conclusion: The prevalence of Factor V Leiden / prothrombin gene mutation in women with recurrent pregnancy loss was found to be very low. Continuous....

scholarly journals The Relationship of the Factor V Leiden Mutation and Pregnancy Outcomes for Mother and Fetus

2006 ◽  
Vol 61 (2) ◽  
pp. 78-79
Author(s):  
Donna Dizon-Townson ◽  
Connie Miller ◽  
Baha Sibai ◽  
Catherine Y. Spong ◽  
Elizabeth Thom ◽  
...  
Keyword(s):  
Pregnancy Outcomes ◽  
Factor V Leiden ◽  
Factor V ◽  
Factor V Leiden Mutation ◽  
Relationship Of ◽  
The Relationship

scholarly journals INCREASED OXIDATIVE STRESS IN THE BLOOD OF OSTOMY PATIENTS

2018 ◽  
Vol 55 (2) ◽  
pp. 164-169 ◽  
Author(s):  
Daniela V BAVARESCO ◽  
Mágada T SCHWALM ◽  
Beatriz M de FARIAS ◽  
Luciane B CERETTA ◽  
Maria Inês da ROSA ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Lipid Hydroperoxide ◽  
Dna Oxidation ◽  
Control Group ◽  
Oxidative Stress Parameters ◽  
Group Methods ◽  
Healthy Control ◽  
Relationship Of ◽  
The Relationship ◽  
Stress Parameters

ABSTRACT BACKGROUND: Ostomy is a surgical procedure that creates a stoma that aims to construct a new path for the output of feces or urine. The relationship of oxidative stress (OxS) markers in patients with ostomy is still poorly described. OBJECTIVE: The present study was aimed at investigating the changes in oxidative stress parameters in peripheral blood collected from ostomy patients when compared with a healthy control group. METHODS: It was evaluated 29 ostomy patients and 30 healthy control patients. The oxidative stress parameters evaluated were: lipid peroxidation [lipid hydroperoxide (LPO), 8-isoprostane (8-ISO) and 4-hydroxynonenal (4-HNE)], protein oxidation and nitration [carbonyl and 3-nitrotyrosine (3-NT)] and DNA oxidation [8-hydroxy-2’-deoxyguanosine (8-OHDG)] in serum from ostomy patients compared to health controls. RESULTS: The data showed an increase of LPO, 8-ISO, 4-HNE, 3-NT and 8-OHDG in serum collected from ostomy patients when compared to healthy controls. CONCLUSION: The findings support the hypothesis that ostomy triggers the oxidative stress observed in the blood collected from these patients.

Prevalence of 20210 A Allele of the Prothrombin Gene in Venous Thromboembolism Patients

1998 ◽  
Vol 80 (07) ◽  
pp. 49-51 ◽  
Author(s):  
Bernard Mercier ◽  
Emmanuel Oger ◽  
Eric Chenu ◽  
Jean-François Abgrall ◽  
Claude Férec ◽  
...  
Keyword(s):  
Risk Factor ◽  
Venous Thromboembolism ◽  
Odds Ratio ◽  
Factor V Leiden ◽  
Clinical Suspicion ◽  
Control Group ◽  
Factor V ◽  
Factor V Gene ◽  
Prothrombin Gene ◽  
Allele Variation

SummaryBackground. The 20210 A allele variation in the 3’ -untranslated region of the prothrombin gene was recently identified as a risk factor as regards deep venous thrombosis. Aim. To assess the frequency of the variation in unselected patients with a proven venous thromboembolism (VTE). Methods. The presence of the prothrombin variation was determined in all consecutive patients referred from July 1994 to August 1997 for a clinical suspicion of VTE, and in whom the diagnosis was confirmed. A control group consisted of bone marrow volunteer donors. Results. Of the 366 patients included, 17 (4.6%) were carriers of the 20210 A allele (95% CI, 2.4% to 6.7%). The mutation was present in 1.0% of the 400 controls. Odds ratio for having VTE in the presence of the 20210 A allele was 4.8 (95% CI, 1.5 to 19.8). Forty-six (12.5%) patients had the mutation of the factor V gene and five (1.4%) patients shared both mutations. After excluding the carriers of the factor V mutation, odds ratio for having VTE in the presence of the 20210 A allele was 3.7 (95% CI, 1.1 to 13.6). Mean age at admission as well as mean age of the first VTE episode were both significantly higher in patients free from the two mutations studied, as compared to carriers of the 20210 A allele (p = 0.04 and 0.01, respectively). Conclusion. Our findings in a large series of patients (1) confirm the 20210 A allele prothrombin gene as a risk factor for VTE. (2) suggest that its association with the factor V Leiden is not uncommon.

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