Significance of MTHFR gene mutation with normal homocysteine level in vascular events

2009 ◽  
Vol 27 (15_suppl) ◽  
pp. e20520-e20520
Author(s):  
V. K. Gadiyaram ◽  
M. A. Khan ◽  
T. Hogan ◽  
R. Altaha ◽  
E. Crowell ◽  
...  
Keyword(s):  
Risk Factors ◽  
Gene Mutation ◽  
Gene Polymorphisms ◽  
Homocysteine Level ◽  
Fetal Loss ◽  
Gene Mutations ◽  
Mthfr Gene ◽  
Vascular Events ◽  
Laboratory Test Results ◽  
Increased Risk

e20520 Background: Hyperhomocysteinemia, due to a combination of genetic and environmental factors, is considered to be a risk factor for vascular disease. Two common variations of the MTHFR gene (C677T and A1298C) result in amino acid substitutions and enhanced thermolability of the enzyme. Individuals with MTHFR gene mutations appear to have raised plasma level of homocysteine which may lead to increased risk of vascular events. However, significance of MTHFR gene mutations with normal homocysteine levels is unknown. Objective: To assess the relation of MTHFR gene mutations with normal homocysteine level and risk of Vascular events (deep venous thrombosis (DVT), pulmonary embolism (PE), Ischemic Heart disease (IHD), cerebrovascular accidents (CVA),recurrent fetal loss). Methods: We reviewed the records of 90 patients referred to our benign hematology clinic for thrombophilia evaluation between 2006 and 2008. All available medical history for risk factors and laboratory test results, obtained from first vascular event through time of consultation, including genetic testing, were reviewed. Anti-cardiolipin antibody, MTHFR genotyping and Protein C and Protein S assays were performed at Warde Medical Laboratory, Ann Arbor, MI. Results: 61 patients with documented vascular events were tested for MTHFR gene mutations. Forty one of these patients also had homocysteine levels available. Thirty-eight of these 41 (92 %) patients had an MTHFR gene mutation with normal homocysteine levels. Eighteen (47%) of these 38 patients had only an MTHFR gene mutation with normal homocysteine level and no other congenital or acquired risk factors for vascular events identified. Conclusions: In our clinic population, many patients with documented vascular events had MTHFR gene polymorphisms with normal homocysteine levels with no other thrombophilia risk factors identified, raising the question of whether MTHFR gene polymorphisms alone, without hyperhomocysteinemia, may somehow contribute to thrombophilia. [Table: see text] No significant financial relationships to disclose.

PREVALENCE OF SPINK 1 AND CASR GENE MUTATIONS IN ACUTE AND RECURRENT ACUTE PANCREATITIS : A STUDY FROM CENTRAL INDIA

2021 ◽  
pp. 62-65
Author(s):  
Mohd Talha Noor ◽  
Rahul Sudan ◽  
Vipin Goyal ◽  
Susmit Kosta ◽  
Ravindra Kumar ◽  
...  
Keyword(s):  
Risk Factors ◽  
Acute Pancreatitis ◽  
Gene Mutation ◽  
Genetic Factors ◽  
Receptor Gene ◽  
Gene Mutations ◽  
Recurrent Acute Pancreatitis ◽  
Casr Gene ◽  
Increased Risk ◽  
Spink 1

Background: Genetic factors may play an important role in the pathogenesis of acute pancreatitis. It has been observed in various studies that the presence of risk factors alone like alcohol abuse or gall bladder stones does not lead to attacks of pancreatitis in all the patients. This leads to assumption that genetic factors may decrease the threshold for the development of pancreatitis in presence of one or more risk factors. We observed that there is a paucity of data regarding the role of genetics in acute pancreatitis (AP) and recurrent acute pancreatitis (RAP) in our part of the world and we aimed at studying the prevalence of genetic mutations in such patients. Methods: Our study intended to nd the prevalence of SPINK1 N34S (Serine protease inhibitor kazal type 1) and CaSR (Calcium sensing receptor) gene mutations in patients of AP and RAP. A total of 50 patients and 25 age and gender matched controls entered our study. Blood samples were obtained from all the cases and controls for routine investigations and genetic analysis. SPINK 1 N34S and CaSR gene mutation studies were done in all the patients and controls. Results: Alcohol (64%) followed by gallbladder stone disease (20%) was the most common aetiology of pancreatitis. SPINK 1 N34S mutation was present in 21 patients and 2 controls whereas CaSR gene mutation was present in 13 patients and 2 controls. Patients with SPINK 1 N34S and CaSR gene mutations were younger than the patients without these mutations. Prevalence of both SPINK1 N34S and CaSR gene mutations was higher in patients of RAP than AP. These mutations were not associated with aetiology or severity of pancreatitis. Conclusion: The prevalence SPINK 1 N34S and CaSR gene mutations was higher in patients of AP and RAP. Identication of these mutations in patients of AP can help in the identication of patients who are at increased risk of recurrent attacks of AP

A High Incidence of Patients with MTHFR (methylenetetrahydrofolate reductase) Gene Mutations Noted in An Appalachian Population Seen for Thrombophilia at the West Virginia University Outpatient Hematology Clinic, 2006–2008

Blood ◽  
2008 ◽  
Vol 112 (11) ◽  
pp. 4500-4500
Author(s):  
Mudussara Asad Khan ◽  
Vijaya k Gadiyaram ◽  
Thomas Hogan ◽  
Ramin Altaha ◽  
Edward Crowell ◽  
...  
Keyword(s):  
Risk Factors ◽  
High Risk ◽  
Gene Mutation ◽  
Protein C ◽  
Gene Mutations ◽  
Protein S ◽  
Mthfr Gene ◽  
Factor V ◽  
Inherited Thrombophilia ◽  
Factor Ii

Abstract Background: One or more risk factors for deep vein thrombosis (DVT) and pulmonary embolism (PE), either hereditary or acquired, can be identified in up to 80% of patients with venous thromboembolism (VTE). Some patients have more than one form of inherited thrombophilia and appear to be at greater risk for thrombosis. We noted a higher than expected incidence of MTHFR gene mutations C677T or A1298C in Appalachian patients referred to our benign hematology clinic. Studies have suggested an increased risk of venous thromboembolism (VTE) in patients with hyperhomocysteinemia, and the C677T mutation in the MTHFR gene has been thought responsible for hyperhomocysteinemia. However, the association of MTHFR gene mutations C677T and A1298C and VTE remains controversial. Methods: We reviewed the records of 72 patients for risk factors for acquired or inherited thrombophilia. These patients were referred to our benign hematology clinic for thrombophilia evaluation between 2006 and 2008. All available medical history for risk factors and laboratory test results, obtained from first VTE through time of consultation, including genetic testing, were reviewed. Anti-cardiolipin antibody (ACA), MTHFR genotyping and Protein C and Protein S assays were performed at Warde Medical Laboratory, Ann Arbor, MI. Results: 72 patients were seen from 2006–2008. Of these, 45 patients (63%) had established VTE per ATS clinical practice guidelines and are the subject of this report. Excluded patients had stroke only (CVA) without other VTE, or were screened for thrombophilia based of family history or prior fetal loss. Of the 45 patients with established VTE, median age at first clot was 34 years (range 14–65) and median age at consultation was 41 years (range 19–72). There were 21 men and 24 women (47% and: 53%). Recorded sites of VTE were legs (54 events), arms (8 events), pulmonary embolism (22 events) and stroke with VTE (3 events). Review of risk factors showed that 90 % of the patients had good performance status (NCI 0,1); 47% were obese with BMI > 30 (median BMI was 29.6); 47% were smokers; 49 % had a positive family history of VTE; 42 % had dyslipidemia; 9% had cancer (3 prior, 1 active germ cell testis tumor); and 16% used oral contraceptives or hormones. 33 of the 45 VTE patients had homocysteine levels available, and the median homocysteine level was 10 micromol/L (range 5.8 –63); 7 (21%) had an elevated homocysteine level, greater than 14. 32 of the 45 VTE patients had MTHFR gene mutation testing done, and 28 of the 32 (88 %) had one or more positive mutations, with alleles C677TT (10%-high risk), C677T (68%), A1298CC (14%), A1298C (39%). Further, 9 of the 32 patients (32%) and the “high risk” C677T-A1298C mutation. Thus, 42% of all patients tested had a “high risk” MTHFR gene mutation for VTE. Coagulation Profile of 45 Thrombophilia Clinic Patients with established VTE # tests (+) # tests done % Anti-Cardiolipin Antibody 5 36 13 Anti-Thrombin III 2 36 6 Factor II 20210 Gene Mutation 2 40 6 Factor V Leiden Gene Mutation 10 40 25 Lupus Anti-coagulant 2 31 6.4 xMTHFR Gene Mutation 28 32 88 Protein C 2 30 7 Protein S 3 29 10 Conclusion: Patients with established VTE in our clinic population inherited risk factors as tabulated above. The Factor II and Factor V mutation incidences of 6% and 25%, as well as the number of abnormalities in Protein C, Protein S, and Anti-Cardiolipin Antibody, appear similar to data reported in the literature for Caucasian populations. However, Rodrigues et al reported a C677TT and C677T prevalence of 14–19% and 36–47% respectively in 1,277 normal persons and a A1298 CC and A1298C prevalence of 7–11 % and 28–35 % respectively (Am J Clin Nutr2006;83:701).,. In our Appalachian population, the overall incidence of MTHFR genetic mutations (88 %) and the number of “high risk” MTHFR mutations (42%) appears excessive and deserves further investigation.

Abstract 3632: Secondary Vascular Events and Sleep Adequacy: the SWIFT Study

Stroke ◽  
2012 ◽  
Vol 43 (suppl_1) ◽  
Author(s):  
LAURA EVENSEN ◽  
Nan Liu ◽  
Yijun Wang ◽  
Bernadette Boden-Albala
Keyword(s):  
Risk Factors ◽  
Recurrent Events ◽  
Sleep Problems ◽  
Recurrent Event ◽  
Vascular Events ◽  
Respiratory Impairment ◽  
Vascular Death ◽  
Increased Risk ◽  
Falling Asleep ◽  
The Relationship

Objective: To describe the relationship between sleep problems, measured by the Medical Outcomes Sleep scale (MOS) at baseline, in ischemic stroke and TIA (IS/TIA) patients and the likelihood of having a recurrent event, leading to vascular death. Background: Among IS/TIA patients, there is increased risk for recurrent vascular events, including stroke, MI and vascular death. While history of stroke is a major predictor of recurrent events, there may be unidentified factors in play. Sleep quality may predict recurrent vascular events, but little is known about the relationship between sleep and recurrent events in IS/TIA patients. Methods: The Stroke Warning Information and Faster Treatment (SWIFT) Study is an NINDS SPOTRIAS funded randomized trial to study the effect of culturally appropriate, interactive education on stroke knowledge and time to arrival after IS/TIA. Sleep problems and recurrent event information were collected among consentable IS/TIA patients. Cox proportional hazards models were used to describe relationships between sleep and recurrent vascular events in IS/TIA patients. The MOS, a 12 item sleep assessment, measures 6 dimensions of sleep: initiation, maintenance, quantity, adequacy, somnolence and respiratory impairment. Results: Over 5 years, the SWIFT study cohort of 1198 [77% IS; 23% TIA] patients were prospectively enrolled. This cohort was 50% female; 50% Hispanic, 31% White and 18% Black, with a mean NIHSS of 3.2 [SD ±3.8]. 750 subjects completed the MOS scale at baseline. In a multivariate analysis, after adjusting for demographics and vascular risk factors: gender, age, race ethnicity, NIHSS, stroke history, qualifying event type, hypertension, diabetes, smoking and family stroke history, longer sleep initiation is associated with combined outcome of IS/TIA, MI and vascular death [p=0.1, HR=1.09]. Significant predictors of vascular death included: trouble falling asleep (initiation) [p=0.05, HR=1.15]; not ‘getting enough sleep to feel rested’ and not ‘getting the amount of sleep you need’ (adequacy) [p=0.06, HR=1.18 and p=0.03, HR=1.18, respectively]; shortness of breath or headache upon waking (respiratory impairment) [p=0.003, HR=1.33]; restless sleep [p=0.07, HR=1.15] and waking at night with trouble resuming sleep [p=0.004, HR=1.23] (maintenance); daytime drowsiness [p=0.05, HR=1.18] and trouble staying awake [p=0.01, HR=1.25] (somnolence); and taking naps (quantity) [p=0.03, HR=1.22]. Conclusions: Sleep problems represent diverse, modifiable risk factors for secondary vascular events, particularly vascular death. Exploring sleep dimensions may yield crucial information for reduction of secondary vascular events in IS/TIA patients. Further investigation is needed to fully understand the effects of sleep on secondary vascular event incidence.

scholarly journals NPHS2 gene mutation, atopy, and gender as risk factors for steroid-resistant nephrotic syndrome in Indonesians

2011 ◽  
Vol 51 (5) ◽  
pp. 272 ◽  
Author(s):  
Dedi Rachmadi ◽  
Danny Hilmanto ◽  
Ponpon Ijradinata ◽  
Abdurahman Sukadi
Keyword(s):  
Risk Factors ◽  
Nephrotic Syndrome ◽  
Gene Mutation ◽  
Significant Risk ◽  
Gene Mutations ◽  
Male Gender ◽  
Amplification Refractory Mutation System ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Nphs2 Gene

Background Steroid-resistant nephrotic syndrome (SRNS) often develops into end stage renal disease. Previous studies have reported that NPHS2 gene mutation, gender, and atopic history are risk factors associated with SRNS. Interethnic, sociocultural, and environmental differences have also been suggested to affect these mutations.Objective To analyze possible risk factors for SRNS, including NPHS2 gene mutations (412C→T and 419delG), gender and atopic history, in Indonesian subjects with SRNS.Methods A case-control study with 153 subjects, consisting of 88 SRNS patients and 65 control subjects, was undertaken in 10 Indonesian teaching centre hospitals from September 2006 to December 2007. Analysis of the NPHS2 gene mutation in 412 C→T was performed by amplification refractory mutation system-polymerase chain reaction (ARMS-PCR), while that for the NPHS2 gene mutation in 419delG was performed by restriction fragment length polymorphism (RFLP). Data was analyzed by multiple logistic regression.Results In our Indonesian subjects, the significant risk factors for SRNS were male gender (OR=2.21; CI 95%:1.07-4.56, P=0.036), NPHS2 412C→T gene mutation (OR=18.07; CI 95%:6.76-48.31, P<0.001), and NPHS2 419delG gene mutation (OR=4.55; CI 95%:1.66-12.47, P=0.003). However, atopic history was not a significant risk factor for SRNS (OR=1.807; CI 95%:0.642-5.086, P=0.262).Conclusion NPHS2 412C→T and 419delG gene mutations, as well as male gender are risk factors for SRNS in Indonesian subjects. Atopic history was not significantly associated with SRNS in our subjects. [Paediatr Indones. 2011;51:272-6].

Contribution of the Cystathionine β-Synthase Gene (844ins68) Polymorphism to the Risk of Early-onset Venous and Arterial Occlusive Disease and of Fasting Hyperhomocysteinemia

2000 ◽  
Vol 84 (10) ◽  
pp. 576-582 ◽  
Author(s):  
Raffaella de Franchis ◽  
Isabella Fermo ◽  
Giuseppina Mazzola ◽  
Gianfranco Sebastio ◽  
Giovanni Di Minno ◽  
...  
Keyword(s):  
Early Onset ◽  
Gene Polymorphisms ◽  
Protein C ◽  
Methylenetetrahydrofolate Reductase ◽  
Statistical Significance ◽  
Activated Protein C ◽  
Mthfr Gene ◽  
Occlusive Disease ◽  
Activated Protein C Resistance ◽  
Increased Risk

SummaryThe frequency of the heterozygous 844ins68 mutation of the cystathionine β-synthase (CBS) gene and of its association with the homozygous C677T transition of the methylenetetrahydrofolate reductase (MTHFR) gene, plasma fasting tHcy, folate and vitamin B12 levels were evaluated in 309 consecutive patients with objectively diagnosed early-onset venous (n = 200) or arterial thromboembolic disease (n = 109) recruited over 25 months in Milan (North Italy) and Naples (South Italy). The above gene polymorphisms were also evaluated in a population of 787 unmatched controls, 204 of whom – similar to patients for age- and sex-distribution – had fasting tHcy, vitamins and activated protein C resistance measured in their plasma.Moderate fasting hyperhomocysteinemia was detected in 15.5% of patients and in 5.9% of 204 controls (Mantel-Haenszel OR after stratification for type of occlusive disease and gender: 2.88; 1.48–5.32). The frequencies of the 677TT mutation of the MTHFR gene and of the heterozygous 844ins68 insertion of the CBS gene were not significantly different in the patient (19.4% and 6.9%) and the control population (16.5% and 7.8%), but the association of the two gene polymorphisms – found in 3.9% of patients and in 1.1% of controls – was significantly associated with an increased risk of venous or arterial occlusive diseases (RR = 3.63; 1.48–8.91). The MTHFR 677TT mutation (RR: 6.92; 3.86–12.4) and its association with the 844ins68 insertion (RR: 21.9; 8.35–57.4), but not the isolated insertion (RR: 0.71), were more frequent in patients and controls with fasting hyperhomocysteinemia than in normohomocysteinemic subjects, irrespective of the type of occlusive disease (venous or arterial). When adjusted for determinants of hyperhomocysteinemia in the patient and the control populations (generalized linear model), fasting tHcy levels were significantly higher in subjects with association of the two gene abnormalities (24.2 ± 3.8 µmol/L) than in subjects with the MTHFR 677TT mutation only (14.0 ± 5.8 µmol/L, p = 0.004). Activated protein C resistance was significantly more prevalent in venous patients (9.9%) than in controls (3.9%, OR = 2.69; 1.08–6.88). Six of 21 venous patients with APCresistance also had hyperhomocysteinemia (RR = 5.04; 0.68–37.6), but isolated fasting hyperhomocysteinemia retained statistical significance for the association with venous occlusive disease (RR = 2.84; 1.34–6.01).Heterozygosity for the 844ins68 mutation of the CBS gene is not per se a risk factor for premature arterial and/or venous occlusive diseases. However, when detected in combination with thermolabile MTHFR, it increases by almost 4-fold the risk of occlusive diseases (arterial and/or venous), by increasing the risk and the degree of fasting hyperhomocysteinemia.

scholarly journals Case Report: Homozygous C677T MTHFR Gene Mutation in Male with Hypogonadism

2020 ◽  
Vol 2020 ◽  
pp. 1-3
Author(s):  
Rami Salameh ◽  
Mumtaheena Miah ◽  
Catherine Anastasopoulou
Keyword(s):  
Erectile Dysfunction ◽  
Gene Mutation ◽  
Methylenetetrahydrofolate Reductase ◽  
Hypogonadotropic Hypogonadism ◽  
Mthfr Gene ◽  
Testosterone Replacement Therapy ◽  
Male Hypogonadism ◽  
Increased Risk ◽  
Key Enzyme ◽  
Infertility Patients

We report a 44-year-old male, who was diagnosed with hypogonadotropic hypogonadism after complaining of erectile dysfunction, depression, and fatigue. He was started on testosterone replacement therapy. He persistently complained of fatigue despite increasing the dose of testosterone over two years and having therapeutic testosterone levels. He was found to have homozygous C677T methylenetetrahydrofolate reductase (MTHFR) gene mutation. After treatment with folate and B12, his symptoms resolve completely. MTHFR is a key enzyme in the folate pathway, and it plays an essential role in homocysteine metabolism. Homozygous C677T individuals have decreased activity of MTHFR enzyme with increased homocysteine levels, which is associated with increased risk of thrombosis. An association has been reported between C677T variant and male infertility. Patients identified to have hyperhomocysteinemia should be treated with B-complex vitamin supplements. Our case emphasizes other possible etiologies for fatigue and erectile dysfunction in a male with hypogonadism on testosterone therapy. Also, it shows possible association between MTHFR gene mutation and male hypogonadism.

scholarly journals Prevalence of and Risk Factors for Cerebral Microbleeds in Moyamoya Disease and Syndrome in the American Population

2019 ◽  
Vol 9 (3) ◽  
pp. 139-147
Author(s):  
Nadeem I. Khan ◽  
Ali A. Saherwala ◽  
Mo Chen ◽  
Sepand Salehian ◽  
Hisham Salahuddin ◽  
...  
Keyword(s):  
Risk Factors ◽  
Logistic Regression ◽  
Moyamoya Disease ◽  
Hemorrhagic Stroke ◽  
Medical Center ◽  
Cerebral Microbleeds ◽  
Age At Diagnosis ◽  
University Hospital ◽  
Vascular Events ◽  
Increased Risk

Background and Purpose: Cerebral microbleeds (CMB) are reported to be frequent in moyamoya disease (MMD) and moyamoya syndrome (MMS) in the Asian population. It is associated with an increased risk of intracerebral hemorrhage. The significance of CMB in MMD/MMS in non-Asian populations has not been well established. Our study aimed to investigate the prevalence of CMB in MMD/MMS in a moymoya cohort with a majority of non-Asians and to identify risk factors for developing a CMB and its predictive value for subsequent vascular events. Methods: The moyamoya database was compiled by screening for MMD/MMS among patients admitted to the Zale-Lipshy University Hospital at the University of Texas Southwestern Medical Center. We identified and analyzed data of 67 patients with MMD or MMS. Patients were characterized as CMB+ or CMB– based on MRI findings. In CMB+ patients, the total number and location of CMB were identified. Univariate and multivariate logistic regression were used to identify risk factors for developing CMB and whether CMB are associated with the development of subsequent vascular events. Results: Out of a total of 67 patients, 11 (16%) had CMB. Males had significantly higher odds of having CMB as compared to females (OR 1.76; 95% CI 1.40–24.3, p = 0.021). The incidence of CMB was also associated with age at diagnosis (mean age of CMB+ patients vs. CMB– patients: 44 vs. 34 years, respectively, p = 0.024), smoking (p = 0.006), and hemorrhagic stroke at presentation (p = 0.034). Logistic regression with multivariate analysis found that gender and age at diagnosis remained statistically significant. New ischemic events occurred in 2 (20%) out of 10 CMB+ patients and 13 (23%) out of 55 CMB– patients, respectively (p = 0.79). While 2 (3%) CMB– patients had a new cerebral hemorrhage during follow-up, none of the CMB+ patients did. Conclusions: CMB are less prevalent in MMD/MMS in the USA than in Asia. An older age at diagnosis and male gender were associated with CMB. The presence of CMB was not associated with an increased risk of a subsequent ischemic or hemorrhagic stroke.

scholarly journals Differential U2AF1 mutation sites, burden and co-mutation genes can predict prognosis in patients with myelodysplastic syndrome

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Haiqiong Wang ◽  
Yongbo Guo ◽  
Zhenkun Dong ◽  
Tao Li ◽  
Xinsheng Xie ◽  
...  
Keyword(s):  
Survival Rate ◽  
Myelodysplastic Syndrome ◽  
Gene Mutation ◽  
Poor Prognosis ◽  
Gene Mutations ◽  
Chromosome 8 ◽  
Common Mutation ◽  
Mutation Load ◽  
Mutation Site ◽  
Increased Risk

Abstract To investigate the U2AF1 gene mutation site, mutation load and co-mutations genes in patients with myelodysplastic syndrome (MDS) and their effects on prognosis. Gene mutation detection by next-generation sequence and related clinical data of 234 MDS patients were retrospectively collected and analyzed for the relationship between the clinical characteristics, treatment efficacy and prognosis of U2AF1 gene mutation. Among the 234 MDS patients, the U2AF1 gene mutation rate was 21.7% (51 cases), and the median variant allele frequency was 39.5%. Compared with the wild type, the U2AF1 mutant had a higher incidence of chromosome 8 aberration, and was positively correlated with the occurrence of ASXL1, RUNX1, SETBP1 gene mutation, negatively correlated with SF3B1, NPM1 genes mutation (p < 0.05). The most common mutation site of U2AF1 was S34F (32 cases), while U2AF1 Q157P site mutations had a higher incidence of chromosome 7 abnormalities (p = 0.003). The U2AF1 gene mutation more frequently coincided with signal pathway related gene mutations (p = 0.043) with a trend of shortened overall survival. Among patients with U2AF1 gene mutations, those with ASXL1 mutations were prone to develop into acute myeloid leukemia, those with RUNX1 mutations had an increased risk of relapse, and those with TET2 mutations had higher 1-year survival rate. Compared with the patient group of lower mutation load (VAF ≤ 40%), the group with higher mutation load of U2AF1 (VAF > 40%) had a significantly lower 1-year survival rate (46.1% and 80.5%, p = 0.027). The criteria of U2AF1 VAF > 40% is an independent indicator for poor prognosis of MDS patients. VAF > 40% of U2AF1 is an independent factor of short OS in MDS patients. MDS patients with a mutation in the Q157P site of U2AF1 and a higher U2AF1 mutation load suggests poor prognosis, and co-mutated genes in U2AF1 can affect disease progression and prognosis.

scholarly journals Vascular Events, Vascular Disease and Vascular Risk Factors—Strongly Intertwined with COVID-19

2020 ◽  
Vol 22 (11) ◽  
Author(s):  
Adrian Scutelnic ◽  
Mirjam R. Heldner
Keyword(s):  
Risk Factors ◽  
Vascular Disease ◽  
Vascular Risk Factors ◽  
Vascular Risk ◽  
Vascular Events ◽  
Increased Risk ◽  
Clinical Benefits ◽  
Infection And Inflammation ◽  
Unhealthy Diet ◽  
New Perspective

Abstract Purpose of review To elucidate the intertwining of vascular events, vascular disease and vascular risk factors and COVID-19. Recent findings Strokes are a leading cause of disability and death worldwide. Vascular risk factors are important drivers of strokes. There are unmodifiable vascular risk factors such as age and ethnicity and modifiable vascular risk factors. According to the INTERSTROKE study, the 10 most frequent modifiable vascular risk factors are arterial hypertension, physical inactivity, overweight, dyslipidaemia, smoking, unhealthy diet, cardiac pathologies, diabetes mellitus, stress/depression and overconsumption of alcohol. Also, infection and inflammation have been shown to increase the risk of stroke. There is high-quality evidence for the clinical benefits of optimal primary and secondary stroke prevention. The COVID-19 pandemic brought a new perspective to this field. Vascular events, vascular disease and vascular risk factors—and COVID-19—are strongly intertwined. An increased risk of vascular events—by multifactorial mechanisms—has been observed in COVID-19 patients. Also, a higher rate of infection with COVID-19, severe COVID-19 and bad outcome has been demonstrated in patients with pre-existing vascular disease and vascular risk factors. Summary At present, we suggest that regular interactions between healthcare professionals and patients should include education on COVID-19 and on primary and secondary vascular prevention in order to reduce the burden of disease in our ageing populations.

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