RATIONALE: Drugs used in chemotherapy, such as pemetrexed disodium, use different ways to stop tumor cells from dividing so they stop growing or die. Pemetrexed disodium may stop the growth of tumor cells by blocking the enzymes necessary for their growth. PURPOSE: This phase I trial is studying the side effects and best dose of pemetrexed disodium in treating young patients with recurrent solid tumors.

NCT00070473

Conditions

1. Unspecified Childhood Solid Tumor, Protocol Specific

Interventions

1. Drug: pemetrexed disodium

MeSH:Neoplasms

HPO:Neoplasm

- Correlate the presence of the C677T polymorphism of the methylenetetrahydrolate reductase gene, the presence of a polymorphism in the enhancer region of the thymidylate synthase (TS) gene promoter (2R and 3R tandem repeats), the presence of a polymorphism within one of those repeats, and the presence of a functional polymorphism in the 3'-untranslated region with toxicity in patients treated with this drug. --- C677T ---

This study will examine whether the tendency to have thrombosis, or the formation of blood clots inside blood vessels, has a role in the development of pseudotumor cerebri (PTC). PTC causes symptoms and signs of isolated elevated blood pressure in the cranium, or covering of the brain. The disorder can lead to significant, negative effects on the visual system. Increased pressure of the cerebrospinal fluid, that is, fluid around the brain, is a factor, but the cause of the disorder is not clear. There has been documentation of clustering of PTC within families. It suggests that potential genetic polymorphisms-abilities to take on different forms-may become evident after exposure to conditions known to trigger PTC. Thrombosis comes about by interactions between genetic and environmental or acquired factors, or both, resulting in a blood clot at a specific time and location. Because the disease occurs in episodes, the interaction of the genetic and nongenetic risk factors is important. Cystinosis is a recessive disorder caused by deposits of cystine within the lysosomes of cells-that is, sac-like cell parts that contain various enzymes. Involvement of the kidneys remains the primary characteristic, eventually leading to renal failure. Of all of the risk factors that make it easier for blood clotting, a high level of a substance called homocysteine is of particular interest. Too much homocysteine in blood plasma is a common finding in patients with kidney failure, and it has been recently identified as an independent risk factor for diseases of the blood vessels. Participants of all ages who meet the Dandy criteria for PTC may be eligible for this study. Pregnant women will be excluded. There will also be a control group of nephropathic cystinosis patients who do not have PTC. Participants will be asked to undergo the following tests and procedures: - Medical history. - Physical examination, to evaluate the eye and nervous systems. - Collection of blood for DNA and other tests. - Collection of cerebrospinal fluid, through a procedure called lumbar puncture or spinal tap. The evaluation of patients will generally last 3 to 4 days. For the collection of cerebrospinal fluid, the patient's skin on the back will be numbed with a local anesthetic. A special needle will be inserted into the back, and a small amount of the fluid will be drawn through the needle. There will be pain for a minute, although there can be a headache lasting 24 hours. Also, there may be bruising, local pain, bleeding, or infection where the needle enters. Patients may also have a magnetic resonance imaging scan of their head. During the MRI scan, patients will lie still on a table that slides in and out of a metal cylinder surrounded by a strong magnetic field. Patients will be able to communicate with the MRI staff at all times and may ask to be moved out of the machine at any time.

NCT00071903

Conditions

1. Pseudotumor Cerebri
2. Cystinosis

MeSH:Pseudotumor Cerebri Fanconi Syndrome Thrombosis Cystinosis Disease Susceptibility

HPO:Renal Fanconi syndrome

A total of 9 nephropathic cystinosis patients who developed PTC and 9 control nephropathic cystinosis patients without PTC will be screened based upon a thrombosis susceptibility screening panel, including total homocysteine, protein C and S, antithrombin III, fibrinogen, Factor VIII, Factor IX, Factor XI levels, testing for PT, PTT, activated protein C resistance, antiphospholipid antibodies (ACA panel and Lupus AC) and screening for FV Leiden mutation, FV G1628A polymorphism, FV R2 allele, Prothrombin 20210 mutation and 5,10-methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphism in patients with severe homocysteinemia (greater than or equal to 100 micro mol/l). --- G1628A --- --- C677T ---

This study is being conducted at the University Hospital of Lund University in Malmo, Sweden, in collaboration with the U.S. National Institute of Child Health and Human Development. The study will try to identify genetic causes of impaired sperm production and male infertility. It will focus on the possible role of the MTHFR and CBS genes, which regulate absorption and metabolism of the vitamin, folate in infertility. If the nutritional intake or metabolism of this vitamin is related to male infertility, then this cause of infertility would be potentially curable. Fertile and infertile men between 20 and 45 years of age may be eligible for this study. Criteria include the following: - Fertile men: men whose partners are younger than age 40 and are attending Lund University prenatal clinic; who have fathered one or more pregnancies and who stopped birth control to achieve the present pregnancy; who achieved the present pregnancy in less than 12 months of unprotected intercourse. - Infertile men: men referred to the Scandian Andrology Centre whose infertility is unexplained, whose partners are younger than age 40 and who have had regular sexual intercourse without contraception for at least 12 months without achieving a pregnancy. All participants will have the following tests and procedures: - Complete a questionnaire providing information about their reproductive and medical history and recent dietary history; - Provide blood samples for analysis of red cell folate, plasma folate, plasma homocysteine, plasma B12, and for genetic evaluation; - Provide a semen sample for routine analysis, including volume, sperm concentration, sperm motility, and sperm morphology. In addition, infertile men will undergo a physical examination and review of their medical records.

NCT00341120

Conditions

1. Male Infertility

MeSH:Infertility Infertility, Male

HPO:Infertility Male infertility

Methylenetetrahydrofolate Reductase C677T Mutation, Other Variant Genotypes, and Male Infertility. --- C677T ---

A randomized prospective study was done to determine whether i.v. 5-methyltetrahydrofolate vs oral folate improved survival in ESRD patients. Homocysteine, CRP, Lp(a), albumin, folates, vitamin B6 and B12 were checked. The 5-MTHF treated group was associated with lowered C reactive protein and higher survival than the folate treated group.

NCT00626223

Conditions

1. Mortality
2. Hyperhomocysteinemia
3. Inflammation

Interventions

1. Drug: 5-MTHF (5-methyltetrahydrofolate)
2. Drug: folic acid

MeSH:Hyperhomocysteinemia Inflamm Inflammation

Gene polymorphisms analysis on C677T and A1298C loci and differences in polymorphisms distribution in both groups. --- C677T ---

The purpose of this study is to determine the commonness of the C677T mutation in the MTHFR gene in subjects with B12 deficiency. Also, we'd like to investigate the effect of B12 deficiency combined with the C677T mutation on endothelial function.

NCT00730574

Conditions

1. B12 Deficiency Combined With C677T Mutation on MTHFR Gene

Interventions

1. Dietary Supplement: Vitamin B12 + Folic Acid

Examining the Commonness of the C677T Mutation in the MTHFR Gene in Subjects With B12 Deficiency and the Influence of the B12 Deficiency Combined With the C677T Mutation on the MTHFR Gene on Endothelial Function.. Examining B12 Deficiency Associated With C677T Mutation on MTHFR Gene in Terms of Commonness and Endothelial Function The purpose of this study is to determine the commonness of the C677T mutation in the MTHFR gene in subjects with B12 deficiency. --- C677T ---

Examining the Commonness of the C677T Mutation in the MTHFR Gene in Subjects With B12 Deficiency and the Influence of the B12 Deficiency Combined With the C677T Mutation on the MTHFR Gene on Endothelial Function.. Examining B12 Deficiency Associated With C677T Mutation on MTHFR Gene in Terms of Commonness and Endothelial Function The purpose of this study is to determine the commonness of the C677T mutation in the MTHFR gene in subjects with B12 deficiency. --- C677T --- --- C677T ---

Examining the Commonness of the C677T Mutation in the MTHFR Gene in Subjects With B12 Deficiency and the Influence of the B12 Deficiency Combined With the C677T Mutation on the MTHFR Gene on Endothelial Function.. Examining B12 Deficiency Associated With C677T Mutation on MTHFR Gene in Terms of Commonness and Endothelial Function The purpose of this study is to determine the commonness of the C677T mutation in the MTHFR gene in subjects with B12 deficiency. --- C677T --- --- C677T --- --- C677T ---

Examining the Commonness of the C677T Mutation in the MTHFR Gene in Subjects With B12 Deficiency and the Influence of the B12 Deficiency Combined With the C677T Mutation on the MTHFR Gene on Endothelial Function.. Examining B12 Deficiency Associated With C677T Mutation on MTHFR Gene in Terms of Commonness and Endothelial Function The purpose of this study is to determine the commonness of the C677T mutation in the MTHFR gene in subjects with B12 deficiency. --- C677T --- --- C677T --- --- C677T --- --- C677T ---

Also, we'd like to investigate the effect of B12 deficiency combined with the C677T mutation on endothelial function. --- C677T ---

The primary measure to determine the effect of the treatment will be reduced levels of Homocysteine in subjects with B12 deficiency combined with C677T mutation in the MTHFR gene.. null. --- C677T ---

Inclusion Criteria: 1. adult males and females of the broad population aged 20-60 2. with no symptomatic heart disease/condition 3. with Vitamin B12 levels of 150 pmol or less 4. which have not received Vitamin B12 supplement treatment before Exclusion Criteria: 1. Adults suffering from a known heart disease/condition 2. any disease the investigator might find as interfering with the process of the experiment 3. tumor-oriented diseases Inclusion Criteria: 1. adult males and females of the broad population aged 20-60 2. with no symptomatic heart disease/condition 3. with Vitamin B12 levels of 150 pmol or less 4. which have not received Vitamin B12 supplement treatment before Exclusion Criteria: 1. Adults suffering from a known heart disease/condition 2. any disease the investigator might find as interfering with the process of the experiment 3. tumor-oriented diseases B12 Deficiency Combined With C677T Mutation on MTHFR Gene we showed that patiebts with B12 deficiency have higher than expected frequency of MTHFR mutation and patients with both abnormalities havean abnormal endothelial function --- C677T ---

The development of diabetic nephropathy has been linked to several genetic polymorphisms, including those related with homocysteine metabolism such as the methylenetetrahydrofolate reductase (MTHFR)and the cystathionine-beta-synthase genes. Such alterations are associated with hyperhomocysteinemia, which is a known independent risk factor for the development of endothelial dysfunction and cardiovascular disease. In the Mexican population there is a high prevalence of the C677T MTHFR mutation. The investigators performed this study to evaluate the prevalence of this polymorphism in type 2 diabetic patients with diabetic nephropathy compared with type 2 diabetic patients without nephropathy, besides evaluating the relationship of hyperhomocysteinemia with endothelial dysfunction and microalbuminuria before and after the administration of folic acid. We proposed that the endothelial dysfunction caused by the hyperhomocysteinemia could be reversed after the administration of folic acid.

NCT00737126

Conditions

1. Diabetic Nephropathies
2. Hyperhomocysteinemia

Interventions

1. Drug: Folic acid
2. Drug: Placebo

MeSH:Kidney Diseases Diabetic Nephropathies Hyperhomocysteinemia

HPO:Abnormality of the kidney Nephropathy

In the Mexican population there is a high prevalence of the C677T MTHFR mutation. --- C677T ---

The purpose of this trial is to confirm that enalapril maleate and folic acid tablets is more effective in preventing stroke among the patients with primary hypertension when compared to enalapril maleate.

NCT00794885

Conditions

1. Primary Hypertension

Interventions

1. Drug: Enalapril/folic acid
2. Drug: Enalapril maleate

MeSH:Hypertension Essential Hypertension

HPO:Hypertension

Inclusion Criteria: - BP≥140/90 mmHg in both of the two screening visits or currently under anti-hypertension treatment - 45 - 75 years old - Successful determination of MTHFR C677T genotype - For pre-menopausal women, agreed to use contraceptives during the trial - Signed the written informed consent Exclusion Criteria: - Having a history of stroke - Having a history of myocardial infarction - Having a history of physician diagnosed heart failure - Post- coronary revascularization - Severe somatic disease such as cancer - Secondary hypertension - Congenital or acquired organic heart diseases - Contraindicated to angiotensin-converting enzyme inhibitor(ACEI) - History of ACEI adverse effects - Currently long-term use of folic acid or vitamin B12 or vitamin B6 - Pregnant or child breastfeeding women - Severe mental disorders - Lab tests indicating abnormal liver or kidney function - Unwilling to participate the trial, unwilling to change the current antihypertensive treatment Inclusion Criteria: - BP≥140/90 mmHg in both of the two screening visits or currently under anti-hypertension treatment - 45 - 75 years old - Successful determination of MTHFR C677T genotype - For pre-menopausal women, agreed to use contraceptives during the trial - Signed the written informed consent Exclusion Criteria: - Having a history of stroke - Having a history of myocardial infarction - Having a history of physician diagnosed heart failure - Post- coronary revascularization - Severe somatic disease such as cancer - Secondary hypertension - Congenital or acquired organic heart diseases - Contraindicated to angiotensin-converting enzyme inhibitor(ACEI) - History of ACEI adverse effects - Currently long-term use of folic acid or vitamin B12 or vitamin B6 - Pregnant or child breastfeeding women - Severe mental disorders - Lab tests indicating abnormal liver or kidney function - Unwilling to participate the trial, unwilling to change the current antihypertensive treatment Primary Hypertension Hypertension Essential Hypertension Primary hypertension is the most important risk factor leading to cardiovascular events. --- C677T ---

Inclusion Criteria: - BP≥140/90 mmHg in both of the two screening visits or currently under anti-hypertension treatment - 45 - 75 years old - Successful determination of MTHFR C677T genotype - For pre-menopausal women, agreed to use contraceptives during the trial - Signed the written informed consent Exclusion Criteria: - Having a history of stroke - Having a history of myocardial infarction - Having a history of physician diagnosed heart failure - Post- coronary revascularization - Severe somatic disease such as cancer - Secondary hypertension - Congenital or acquired organic heart diseases - Contraindicated to angiotensin-converting enzyme inhibitor(ACEI) - History of ACEI adverse effects - Currently long-term use of folic acid or vitamin B12 or vitamin B6 - Pregnant or child breastfeeding women - Severe mental disorders - Lab tests indicating abnormal liver or kidney function - Unwilling to participate the trial, unwilling to change the current antihypertensive treatment Inclusion Criteria: - BP≥140/90 mmHg in both of the two screening visits or currently under anti-hypertension treatment - 45 - 75 years old - Successful determination of MTHFR C677T genotype - For pre-menopausal women, agreed to use contraceptives during the trial - Signed the written informed consent Exclusion Criteria: - Having a history of stroke - Having a history of myocardial infarction - Having a history of physician diagnosed heart failure - Post- coronary revascularization - Severe somatic disease such as cancer - Secondary hypertension - Congenital or acquired organic heart diseases - Contraindicated to angiotensin-converting enzyme inhibitor(ACEI) - History of ACEI adverse effects - Currently long-term use of folic acid or vitamin B12 or vitamin B6 - Pregnant or child breastfeeding women - Severe mental disorders - Lab tests indicating abnormal liver or kidney function - Unwilling to participate the trial, unwilling to change the current antihypertensive treatment Primary Hypertension Hypertension Essential Hypertension Primary hypertension is the most important risk factor leading to cardiovascular events. --- C677T --- --- C677T ---

C677T gene polymorphism of 5,10-methylenetetrahydrofolate reductase (MTHFR) is one of the genetic determinators of plasma tHcy level. --- C677T ---

This trial will enroll 20,000 patients with primary hypertension and with known MTHFR C677T genotype. --- C677T ---

They will be compared by treatment groups with and without stratification by C677T gene polymorphisms. --- C677T ---

The potential interaction between treatment groups and C677T gene polymorphisms on therapeutic efficacy will also be tested. --- C677T ---

Livedo vasculitis is disease with recurrent courses of painful foot or ankle ulcerations, followed by healed white scars. The actual mechanism of its pathophysiology is not yet clear. It has been reported to be associated with some gene mutations, for example, factor V Leiden gene. This study is aimed to find the possible relation of these gene mutations in Taiwanese patients.

NCT00975871

Conditions

1. Livedo Vasculitis
2. Livedoid Vasculitis
3. Livedoid Vasculopathy
4. Genetic Pleomorphism
5. Leiden Mutation

MeSH:Vasculitis

HPO:Vasculitis

It has been reported to be related to factor V Leiden mutation (heterozygous) (22.2%), prothrombin G20210A gene mutation (8.3%), PAI promotor 4G/4G genotype and methylenetetrahydrofolate reductase (MTHFR) C677T mutation in about total 30% livedo vasculitis patients. --- G20210A --- --- C677T ---

The common polymorphism in MTHFR gene (C677T) has a significant effect on (6S)-5-CH3-H4folate after folic acid supplementation. For example, post supplementation differences in (6S)-5-CH3-H4folate between CC and TT are above 30%.

NCT01105351

Conditions

1. the Effect of MTHFR C677T on Folate Metabolism

Interventions

1. Dietary Supplement: folic acid plus B6 and B12
2. Dietary Supplement: folic acid

Effect of Folic Acid on Primary Folate Forms in Relation to MTHFR The common polymorphism in MTHFR gene (C677T) has a significant effect on (6S)-5-CH3-H4folate after folic acid supplementation. --- C677T ---

methotrexate) treatment - Ileum resection - Current B-vitamin supplement - Epilepsy medications - Megaloblastic anemia or other indications for treatment with high doses of folate or vitamin B12. the Effect of MTHFR C677T on Folate Metabolism The investigators aim to test the effect of low doses of folic acid with or without B6 and B12 on folate forms in relation to polymorphisms in folate catabolising enzymes in elderly people. --- C677T ---

The EVE- technology is intended for determination of intolerance or sensitivity to female sex hormones among women with hormone-related conditions and for further treatment by desensitization procedure inducing a tolerance to the hormones the women are sensitive to. This study is designed to evaluate the safety and the ability of the EVE- Skin-Test Panel to detect sensitivity to female sex hormones in subjects with Unexplained Recurrent Pregnancy Loss (URPL) and in Control parous, healthy women. The Skin Test Panel includes four female hormones and three control solutions. Hormones from the Skin Test Panel are injected intradermally during the luteal phase of the subject's menstrual cycle. The skin reactions are examined by physician for erythema and wheal after 20 minutes and 48 hours and self-assessed by the patient daily for the following month. Skin response monthly data is analyzed and compared between unexplained recurrent pregnancy loss (UPRL) and healthy groups. Following achievement of the significant differences between both groups the immune profile of the healthy and UPRL subjects will be investigated.

NCT01175759

Conditions

1. Abortion, Recurrent

Interventions

1. Drug: Skin test panel
2. Drug: Skin test panel

MeSH:Abortion, Habitual Hypersensitivity

HPO:Allergy

4. Severe allergies or an inflammatory illness at the time of enrollment For healthy group: 1. Women who are pregnant or lactating on the day of screening 2. Abnormal routine blood tests For UPRL: 1. Hereditary thrombophilias (Factor V Leiden, Activated protein C resistance, MTHFR (C677T), Factor II mutation (G20201A)) 2. One or more abnormal test from the list below: 1. Karyotype of either parent (normal: 46XX or 46XY) 2. Glucose tolerance test (This can be altered to fasting blood sugar of 100mg/dl or less); 3. Toxoplasmosis serology (IgM positive); 4. Hysterosalpingogram, 3-D ultrasound or hysteroscopy, thereby excluding anatomical abnormalities, intrauterine adhesions and cervical incompetence; 5. Thyroid function (Euthyroid levels;); 6. Serum prolactin; 7. Normal luteal phase of at least 12 days and plasma progesterone above 24 ng/lL 8. Anti nuclear factor (Negative) 9. Anticardiolipin antibody by Elisa testing (cut off value <13 GPLu/mL and <7.6 MPLu/mlL) and Lupus anticoagulant (according to Kaolin clotting time (KCT), Russell's viper venom tome (RVVT) or APTT. --- C677T ---

There are several factor that can be related to Neonatal Thrombotic events. Among them hypercoagulability can be the cause of those events. Factor V Leiden (FVL) and Prothrombin mutation are the most common causes of hereditary thrombophilia. The incidence of in the arab population is known to be higher than the incidence in another western populations. The purpose of this study is to review retrospectively the thrombophilic risk factors that were found in a cohort of premature babies and term newborns treated and investigated at the Neonatal Intensive Care Unit and at the Pediatric Hematology Unit.

NCT01443273

Conditions

1. Premature
2. Thrombosis

Interventions

1. Other: Medical Records study

MeSH:Thrombosis

Also the three common genetic factors are analysed including Factor F Leiden (G1691A), Prothrombin Mutation (G20210A) and MTHFR polymorphism (C677T). --- G1691A --- --- G20210A --- --- C677T ---

This study evaluated the effect of anticoagulant treatment on the live-birth rate in women with a history of at least two continuous unexplained miscarriages or thrombophilia. It also compared two methods of treatment with aspirin and aspirin plus heparin.

NCT01542411

Conditions

1. Recurrent Pregnancy Loss

MeSH:Abortion, Habitual

Inclusion Criteria: - unexplained recurrent miscarriage, - women had previous venous or arterial thromboembolism or who were heterozygous or homozygous for mutations for FV Leiden G1691A, prothrombin gene G20210A (FII G20210A), and methyltetrahydrofolate reductase C677T (MTHFR C677T) Exclusion Criteria: - abnormal karyotypes of both partners, - uterine and cervical anatomical disorders on pelvic ultrasonography or hysteroscopy, - abnormal ovaries and abnormal endocrine tests. --- G1691A --- --- G20210A --- --- G20210A --- --- C677T ---

Inclusion Criteria: - unexplained recurrent miscarriage, - women had previous venous or arterial thromboembolism or who were heterozygous or homozygous for mutations for FV Leiden G1691A, prothrombin gene G20210A (FII G20210A), and methyltetrahydrofolate reductase C677T (MTHFR C677T) Exclusion Criteria: - abnormal karyotypes of both partners, - uterine and cervical anatomical disorders on pelvic ultrasonography or hysteroscopy, - abnormal ovaries and abnormal endocrine tests. --- G1691A --- --- G20210A --- --- G20210A --- --- C677T --- --- C677T ---

The purpose of this study is to evaluate the effect of supplementation with flaxseed oil combined with a nutritional counseling in reducing cardiovascular risk factors in homocysteine , biomarkers of inflammation, oxidative stress, improving quality of life and cognitive decline in hypertensive and dyslipidemic genotyped for the C677T and A1298C polymorphisms of methylenetetrahydrofolate reductase gene.

NCT01604681

Conditions

1. Hypertension
2. Dyslipidemia

Interventions

1. Dietary Supplement: Placebo
2. Dietary Supplement: Flaxseed Oil

MeSH:Dyslipidemias

HPO:Abnormal circulating lipid concentration

The Effect of Flaxseed Oil Supplementation on Biomarkers, Quality of Life and Cognitive Function in Hypertensive and Dyslipidemic Subjects With or Without the C677T and A1298C Polymorphisms in MTHFR Gene in Different Municipalities of Rio de Janeiro. --- C677T ---

Supplementation With Flaxseed Oil in the State of Rio de Janeiro The purpose of this study is to evaluate the effect of supplementation with flaxseed oil combined with a nutritional counseling in reducing cardiovascular risk factors in homocysteine , biomarkers of inflammation, oxidative stress, improving quality of life and cognitive decline in hypertensive and dyslipidemic genotyped for the C677T and A1298C polymorphisms of methylenetetrahydrofolate reductase gene. --- C677T ---

To evaluate the effect of nutritional counseling associated with linseed oil supplementation on biomarkers estutados according to the C677T and A1298C polymorphisms of the MTHFR gene.. Cognitive decline. --- C677T ---

Our goal is to evaluate the effect of supplementation with flaxseed oil combined with nutritional counseling in reducing cardiovascular risk factors in homocysteine, biomarkers of inflammation, oxidative stress, improving quality of life and cognitive decline in hypertensive individuals dyslipidemic and genotyped for polymorphisms C677T and A1298C methylenetetrahydrofolate reductase gene (MTFHR). --- C677T ---

Will be collecting information on the socio-economic status of study participants through a structured questionnaire will be carried out assessment of food consumption - frequency of consumption and 24 hours, clinic - blood pressure, anthropometric - height, weight, waist circumference and BMI, body composition - bioelectrical impedance analysis, biochemical tests - lipid profile, blood glucose, insulin, homocysteine, serum folate concentrations in erythrocytes and, cobalamin, vitamin C, E and A, minerals - zinc, iron, copper and selenium, markers of oxidative stress and inflammatory response and molecular analysis - C677T and A1298C polymorphisms of methylenetetrahydrofolate reductase gene. --- C677T ---

Our results demonstrate the effectiveness of supplementation with flaxseed oil, in reinforcing the results of nutritional counseling in reducing cardiovascular risk factors and biomarkers studied, besides adding to the knowledge about the interactions between markers of inflammation, oxidative stress with oil supplementation flaxseed and polymorphisms C677T and A1298C MTHFR gene, on which there are no reports in the literature. --- C677T ---

Nutritional anemia is a major public health problem among children and women in developing countries. Despite ongoing national program of supplementing pregnant women with iron-folate, prevalence of anemia is 39% among pregnant women and 78% among infants in Bangladesh. Vitamin B12 deficiency is a more prevalent cause of megaloblastic anemia than folate in many developing countries. This data raises the interest to address the role of vitamin B12 deficiency in nutritional anemia. Low dietary intake of animal products, a predominant source of vitamin B12 may cause anemia. Besides maintaining normal erythropoiesis, B12 is essential for immune function. However, no studies have evaluated the effect of maternal B12 supplementation on reduction of anemia and improving immunity of their infants. The investigators hypothesize that vitamin B12 supplementation plus iron-folate during pregnancy and 3-mo postpartum would: (a) Decrease anemia among mothers and infants; (b) Improve vaccine specific cellular and humoral immune responses among mothers; (c) Improve vaccine specific immunity in infants by passive transfer; (d) Improve DNA methylation and one-carbon metabolism in mother-child pairs; (e) Reduce antenatal/postnatal depression. Results from this study will guide and provide support to the policy makers to identify effective strategies to reduce nutritional anemia in population at risk. The investigators aim to conduct a double-masked placebo controlled trial to investigate the added effect of vitamin B12 on the iron-folate supplementation among pregnant women. Anemic (Hb level <11.0 g/dl) mothers at 11-14 weeks of gestation will be randomized into two groups: supplement group will receive 250 ug vitamin B12 plus 400 ug folate and 60 mg iron; placebo group will receive folate and iron only. This daily supplementation will continue up to 3-mo postpartum. At 26-28 wk of gestation mothers will be given inactivated influenza vaccine. Data on anthropometric indices of mothers and children, birth size, infant growth and morbidity (mothers and children) throughout the study period will be recorded. 24-h dietary recall data will be collected from the mothers bimonthly throughout the study. Biochemical indicators of anemia including Hb, vitamin B12, ferritin, folate and α-glycoprotein (AGP) will be assessed in plasma of mothers (pre- and post-supplementation) and infants (cord blood and 3-months). Additional measurements include serum transferrin receptor (sTfR) in plasma and methyl malonic acid (MMA) and total homocysteine (tHcy) in the urine of mothers. Plasma vaccine specific antibody responses will be measured in mothers (pre- and post supplementation) and in infants (cord blood and 3-months). In breast milk, B12, folate and s-IgA will be determined. Genetic polymorphism (one-carbon metabolism) and DNA methylation will be studied in mothers and in cord blood.

NCT01795131

Conditions

1. Nutritional Anemia in Mothers.
2. Nutritional Anemia in Infants.

Interventions

1. Dietary Supplement: Vitamin B12
2. Dietary Supplement: Placebo

MeSH:Anemia

HPO:Anemia

Mutations in the ALPL, MTHFR C677T and FUT2 genes will be determined by PCR- RFLP assay and DNA sequencing.. Reduce depression scores. --- C677T ---

Mutations in the ALPL, MTHFR C677T and FUT2 genes will be determined by PCR- RFLP assay and DNA sequencing. --- C677T ---

To evaluate the efficacy of Amlodipine-folic Acid Tablets on reduction of blood pressure and plasma homocystein.

NCT01848873

Conditions

1. Essential Hypertension

Interventions

1. Drug: Amlodipine
2. Drug: amlodipine-FA tablet, low dose group
3. Drug: amlodipine-FA tablet ,high dose group

MeSH:Hypertension Essential Hypertension Hyperhomocysteinemia

HPO:Hypertension

Polymorphism of MTHFR C677T leads to a reduction in enzyme activity, which may lead to an increased concentration of plasma homocysteine and lower levels of serum folate, particularly in those with low folate intake. --- C677T ---

In the present study, we sought to assess: (1) the efficacy and safety of Amlodipine-folic Acid Tablets in lowering blood pressure and homocystein in patients with mild to moderate hypertension and hyperhomocysteinemia (hcy≥10μmol/L);(2) if the blood pressure and homocysteine-lowering efficacy of Amlodipine-folic Acid Tablets can be modified by individual methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms. --- C677T ---

MTHFR C677T genotypes were determined for each study subject. --- C677T ---

The purpose of this trial is to confirm that enalapril maleate and folic acid tablets is more effective in preventing renal function decline among the patients with primary hypertension when compared to enalapril maleate.

NCT01871740

Conditions

1. Hypertension
2. Hyperhomocysteinemia

Interventions

1. Drug: Enalapril maleate and folic acid tablets
2. Drug: Enalapril maleate

MeSH:Kidney Diseases Renal Insufficiency, Chronic Hypertension Hyperhomocysteinemia

HPO:Abnormality of the kidney Chronic kidney disease Hypertension Nephropathy

The composite endpoint is consisted of: 1)End stage renal disease (ESRD);2)Doubling of serum creatinine; and 3)Renal disease-induced death.. Inclusion Criteria: - BP≥140/90 mmHg in both of the two screening visits or currently under anti-hypertension treatment; - 45-75 years old; - Successful determination of methylenetetrahydrofolate reductase (MTHFR) C677T genotype; - For pre-menopausal women, agreed to use contraceptives during the trial; - Signed the written informed consent. --- C677T ---

Inclusion Criteria: - BP≥140/90 mmHg in both of the two screening visits or currently under anti-hypertension treatment; - 45-75 years old; - Successful determination of methylenetetrahydrofolate reductase (MTHFR) C677T genotype; - For pre-menopausal women, agreed to use contraceptives during the trial; - Signed the written informed consent. --- C677T ---

To evaluate the efficacy of Amlodipine-Folic Acid Tablets on reduction of blood pressure and plasma total homocysteine.

NCT01956786

Conditions

1. Essential Hypertension

Interventions

1. Drug: Amlodipine-FA tablet,low dose group
2. Drug: Amlodipine-FA tablet,high dose group
3. Drug: Amlodipine

MeSH:Hypertension Essential Hypertension

HPO:Hypertension

Polymorphism of MTHFR C677T leads to a reduction in enzyme activity, which may lead to an increased concentration of plasma homocysteine and lower levels of serum folate, particularly in those with low folate intake. --- C677T ---

In the present study, we sought to assess:(1)the efficacy and safety of Amlodipine-Folic Acid Tablets in lowing blood pressure and homocysteine in patients with mild to moderate hypertension, hyperhomocysteinemia (hcy≥10μmol/L)and ACEI intolerance;(2)whether the blood pressure and homocysteine-lowing efficacy of Amlodipine-Folic Acid Tablets can be modified by individual MTHFR C677T polymorphisms. --- C677T ---

MTHFR C677T genotypes were determined for each study subject. --- C677T ---

Parental one-carbon nutrient intake (folic acid and choline) and the genetic polymorphisms of one-carbon metabolic enzyme were interact with regulating embryonic one-carbon metabolic environment, affect fetal DNA and RNA biosynthesis and methyl modification of the genome molecule, to promote the individual nutrient growth factor of growth and development. Inadequate maternal one-carbon nutrient intake combined with genetic polymorphisms of one-carbon enzymatic mutation, causing one-carbon malnutrition, change fetal methyl metabolic nutrition environment. It not only leads to fetal growth mutation - such as folate and choline deficiency, increasing the risk of fetal neural tube defect but also induce abnormal modifying of fetuses's post-genomic methylation markers, may alter imprinted genes function of progenitors, recompile threshold sensitivity or domain in regulation of metabolic reactions of offspring, resulting in long-lasting effect, increasing the risk of chronic diseases of offspring such as cancer. According to the National Nutrition Survey results show that a considerable proportion of the Taiwanese people had poor one-carbon nutritional status. 48% of women intake 66% below the recommended intake reference value of folate. Whether inadequate parental one-carbon nutrients intake combined with genetic polymorphisms of one-carbon enzymatic mutation will cause one-carbon malnutrition of fetus, affecting fetal growth and modifying the risk of cancer development relationship of offspring. It is due to the lack of local ethnic data and empirical scientific reference at home and abroad, so it can not plan an effective maternal and children nutrient education and prevention strategies about methyl nutrition for early cancer prevention for Taiwanese. Therefore, indigenous people is the intended population of study in this project, screening of healthy pregnant women with high risk factor for cancer and obese pregnant women, and detection of one-carbon nutrient intake and biochemical assessment of the nutritional status of the study group. Supplying nutrition education intervention or multivitamin supplement to improve the poor nutritional status of persons. Using related DNA methylation imprint marker about offspring growth and modifying development of cancer as assessment, this project explores the appropriate one-carbon nutrient intake in parents and children and the assessments in regulation of growth and reducing the cancer-related risk.

NCT02266641

Conditions

1. Off-spring Cancer Risk

Interventions

1. Behavioral: nutrition counseling
2. Dietary Supplement: multivitamin supplement

Measure maternal and cord blood and placenta tissues MTHFR C677T genotypes. --- C677T ---

try to find genomic DNA in culture medium after the embryos develop on Day 3 and Day 5 also in single step culture media. using direct PCR Polymerase Chain Reaction and also WGA Whole Genome Amplification before PCR and sequencing of the samples to find the point mutation

NCT02359747

Conditions

1. Single-Gene Disease

Interventions

1. Genetic: Polymerase Chain Reaction and Whole Genome Amplification

Quantification will be made with a standard curve constructed with genomic DNA (with culture media -day 3 and day5-, to take into account media inhibitory effects) TSPY1 amplification will be use to assess the presence of Y chromosome WGA followed by PCR on a single copy gene (MTHFR gene) will be performed on a subset of some samples to monitor the C677T polymorphism (genotyping by sequencing) WGA followed by PCR on a single copy gene (MTHFR) will be also performed on blastocoele fluids --- C677T ---

Approximately 10% of the world's population have a particular genetic makeup (known as the TT genotype) that may increase their risk of having higher blood pressure. Previous work conducted by the investigators research group at the University of Ulster, in collaboration with clinical colleagues from across Northern Ireland, in premature CVD patients and hypertensive adults generally has demonstrated that a dietary level of riboflavin (1.6mg/d) decreases blood pressure, specifically in those with the TT genotype. To date, the blood pressure lowering effects of higher doses of riboflavin in individuals with the TT genotype is not known. The aim of this study is to investigate whether supplementation with riboflavin at a low dose supplemental level (10mg/d) can decrease blood pressure more effectively than the dietary level (1.6mg/d) by optimising riboflavin status and normalising MTHFR activity. This aim will be achieved by conducting a double-blind placebo-controlled intervention study over a 16 week period. Participants will be recruited from cohorts screened for the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism. Those identified with the TT genotype (homozygous for the polymorphism) that wish to participate in this research will be asked to attend a baseline and week-16 appointment and will be asked to take a daily riboflavin (1.6 or 10mg/d) or placebo capsule for the duration of the study. At each appointment a blood sample will be taken and blood pressure, height, weight and waist circumference will be measured. If the results of this study show that intervention with a higher dose of riboflavin can lower blood pressure more effectively in individuals with the TT genotype this will have important implications for those responsible for the management of blood pressure. The findings will be of particular relevance in populations with a higher prevalence of the polymorphism.

NCT02463513

Conditions

1. Participants With the MTHFR 677TT Genotype

Interventions

1. Dietary Supplement: Placebo comparator
2. Dietary Supplement: 1.6mg riboflavin (Vitamin B2)
3. Dietary Supplement: 10mg riboflavin (Vitamin B2)

MeSH:Hypertension Disease Susceptibility Genetic Predisposition to Disease

HPO:Hypertension

Participants will be recruited from cohorts screened for the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism. --- C677T ---

Background & Aims: Non-cirrhotic portal hypertension (NCPH) represents a relatively infrequent group of conditions. This work aimed at determining causes of NCPH and evaluating the role of some clinical, laboratory, imaging and endoscopic parameters in prediction of variceal bleeding in an Egyptian cohort with NCPH. Methods: Sixty patients with non-cirrhotic portal hypertension and oesophageal varices were included. All underwent complete clinical evaluation, laboratory investigations, Color Doppler ultrasonography, platelet count/spleen diameter (mm) ratio and upper gastrointestinal endoscopy. Patients were classified into two groups according to variceal bleeding: (1) Group I: twenty six patients with history of bleeding or had an attack of bleeding during one year follow-up; and (2) Group II: thirty four patients without bleeding.

NCT02635815

Conditions

1. Portal Hypertension

Interventions

1. Procedure: Upper gastrointestinal endoscopy

MeSH:Hypertension, Portal Hypertension

HPO:Hypertension Portal hypertension

It was done only for patients with Budd-Chiari syndrome and extrahepatic portal vein thrombosis: anticardiolipin antibodies, lupus anticoagulant, antinuclear antibodies, protein C, S, antithrombin III, factor V Leiden G1691A mutation, prothrombin gene G20210A mutation, methylene tetrahydrofolate reductase C677T mutation by PCR, Janus tyrosine kinase-2 (JAK II) V617F mutation by PCR (to exclude myeloproliferative disorders) and flow cytometry for CD55 and CD59 (to exclude paroxysmal nocturnal hemoglobinuria); (4) Abdominal ultrasonography: for liver size, echogenicity, spleen size, portal vein diameter and ascites; (5) Color Doppler ultrasonographic study: was done in the morning after an overnight fasting using a color Doppler unit with a 3.5 MHz convex probe for confirmation of portal vein (PV) patency and diameter, mean PV flow velocity (mean PVV) (cm/sec), PV direction of flow, splenic vein patency and diameter, presence of portosystemic collaterals and patency of hepatic veins; (6) Platelet count/spleen diameter ratio: calculated as: platelet count/ maximum spleen bipolar diameter by ultrasound in mm; (7) Ultrasonography guided liver biopsy: for diagnosis of NCPH and exclusion of cirrhotic portal hypertension; and (8) Upper gastrointestinal endoscopy using the Pentax video endoscope EG 3440. --- G1691A --- --- G20210A --- --- C677T ---

A randomized double-blind placebo controlled study of reduced B vitamins in patients with major depression who were positive for one or both of the common MTHFR polymorphisms was conducted between 8/1/2014 and 4/3/2015. Homocysteine levels and MADRS scores were used as primary measures. The study was designed to test safety and efficacy of reduced B vitamins in MDD associated with MTHFR. This study examines the data from the trial to see effects, effect sizes, and further, if demographic factors and other patient characteristics correlated with findings.

NCT02709668

Conditions

1. Depression

Interventions

1. Dietary Supplement: Enlyte
2. Other: placebo

MeSH:Depression Depressive Disorder

HPO:Depressivity

Clinical Response and Homocysteine Reduction Using Reduced B-Vitamin Therapy in MTHFR C677T/A1298C Patients With Major Depressive Disorder : an Analysis of Findings. --- C677T ---

330 adult patients with MDD (DSM-5), and positive for MTHFR C677T and/or A1298C polymorphisms were enrolled in a trial conducted between August 1, 2014, and April 3, 2015. --- C677T ---

The C677T polymorphism in the MTHFR gene is related to several significant biochemical changes, as dyslipidemia, changes in serum levels of homocysteine, folic acid, vitamin B12 and some oxidative stress markers such as the CAT and MDA, leading to a high risk of the emergence of cardiovascular disease (CVD). A diet containing antioxidants, especially folate, is characterized by being beneficial for individuals with this genetic alteration to possess anti-inflammatory function, act on and oxidative stress play an important gene function. The aim of this study was to evaluate the influence of the C677T polymorphism of the MTHFR gene and the effect of a diet containing folate on oxidative stress, lipid profile and homocysteine levels in adult women are overweight or obese. This is an intervention study, double-blind, held in a city in northeastern Brazil. The study included 48 adult women (20-59 years old) with BMI of 26.19 kg / m² and 49.64 kg / m², in which we evaluated the CAT levels, MDA, lipid profile, folic acid, homocysteine and vitamin B12 addition genotyping for the C677T polymorphism in the MTHFR gene and the food consumption by the food recall 24 hours, being divided by randomization into two groups received daily for 8 weeks, 300g vegetables rich in folate containing 191 ug and 90 ug of this nutrient.

NCT02953522

Conditions

1. Overweight and Obesity

Interventions

1. Other: 191 mcg/day of Folate
2. Other: 90 mcg / day of Folate

MeSH:Overweight

Polymorphism C677T MTHFR and Diet With Folate in Oxidative Stress, Lipid Profile and Homocysteine. --- C677T ---

Polymorphism C677T MTHFR and Effects of Folate Intake The C677T polymorphism in the MTHFR gene is related to several significant biochemical changes, as dyslipidemia, changes in serum levels of homocysteine, folic acid, vitamin B12 and some oxidative stress markers such as the CAT and MDA, leading to a high risk of the emergence of cardiovascular disease (CVD). --- C677T ---

Polymorphism C677T MTHFR and Effects of Folate Intake The C677T polymorphism in the MTHFR gene is related to several significant biochemical changes, as dyslipidemia, changes in serum levels of homocysteine, folic acid, vitamin B12 and some oxidative stress markers such as the CAT and MDA, leading to a high risk of the emergence of cardiovascular disease (CVD). --- C677T --- --- C677T ---

The aim of this study was to evaluate the influence of the C677T polymorphism of the MTHFR gene and the effect of a diet containing folate on oxidative stress, lipid profile and homocysteine levels in adult women are overweight or obese. --- C677T ---

The study included 48 adult women (20-59 years old) with BMI of 26.19 kg / m² and 49.64 kg / m², in which we evaluated the CAT levels, MDA, lipid profile, folic acid, homocysteine and vitamin B12 addition genotyping for the C677T polymorphism in the MTHFR gene and the food consumption by the food recall 24 hours, being divided by randomization into two groups received daily for 8 weeks, 300g vegetables rich in folate containing 191 ug and 90 ug of this nutrient. --- C677T ---

After the selection of individuals from the sample of adults who participated in the II DISANDNT / JP and considering the inclusion criteria and genotyping of the C677T polymorphism in the MTHFR gene, they were invited to participate. --- C677T ---

Prospective randomized study of patients with infertility candidates to Assisted ReproductiveTechniques (ART), screened for all inclusion and exclusion criteria, submitted to ART cycle with or without low molecular weight heparin (LMWH) administration. Aims of the study are to evaluate, primarily, pregnancy rate/embryo transfer, secondarily take home babies/embryo transfer, implantation rate, and the role of thrombophilic factors

NCT02991950

Conditions

1. Infertility
2. Low Molecular Weight Heparin

Interventions

1. Drug: Parnaparin Sodium

MeSH:Infertility Body Weight

HPO:Infertility

All enrolled patients were previously screened for the presence or not of thrombophilic defects: protein C or protein S or AT deficiency, FV G1691A and FIIG20210A mutations, C677T MTHFR polymorphism,hyperhomocysteinemia, antiphospholipid antibodies. --- G1691A --- --- C677T ---

Hypertension, which results from a combination of multiple lifestyle and genetic factors, is a global public health problem affecting 1 billion people worldwide. The identification of cheap treatment interventions without adverse side effects would be hugely advantageous particularly in low-income settings with high prevalence of hypertension such as sub-Saharan Africa where up to 46% of adults are affected. Emerging evidence links a functional polymorphism in the MTHFR gene (rs1801133 C677T), encoding the folate-metabolising enzyme methylenetetrahydrofolate reductase to high blood pressure in adults. Variation at rs1801133 is relatively common and has 3 genotypes; homozygous "normal" CC, heterozygous CT and homozygous "variant" TT genotypes. Of these genotypes, the homozygous "variant" TT is more strongly associated with a higher BP. The precise mechanism by which MTHFR is associated with BP remains unclear. It has been recently shown in 3 separate randomized controlled trials that BP is highly responsive to riboflavin and that this response is differential by MTHFR rs1801133 genotype. In all these clinical trials, significant reduction in both systolic and diastolic blood pressure was observed in the homozygous variant TT genotype and an intermediate effect seen in those with the heterozygous CT genotype. The aim of this study is to evaluate the effect of riboflavin supplementation on blood pressure in a riboflavin-deplete population as well as comparing plasma riboflavin status before and after supplementation. This will be achieved by conducting a randomized single-blind placebo controlled trial over a period of 16 weeks. The Investigators will use the Keneba biobank to invite about 100 adults with the CT genotype and a similar number of age-, sex and village-matched CC homozygotes. Participants within each of the groups will be randomized to receive either riboflavin (5mg/d) or a matching placebo which would be supplied on a weekly basis. Blood sample, blood pressure measurement, socio-demographic data and their anthropometric measurements (height, weight, waist and hip circumference and body composition by BIA) will be taken during the initial visit. An additional blood sample will be taken at the end of the study whilst additional BP measurements will be taken respectively at 8 weeks and at the end of the intervention. The possibility that riboflavin deficiency represents a new, easily-correctible causal factor in hypertension in sub-Saharan Africa would require further large-scale interventions if this pilot study yields encouraging results.

NCT03151096

Conditions

1. High Blood Pressure
2. MTHFR C677T Genotype

Interventions

1. Dietary Supplement: Riboflavin
2. Dietary Supplement: Placebo

MeSH:Hypertension

HPO:Hypertension

Pilot Evaluation of the Effect of Riboflavin Supplementation on Blood Pressure and Possible Effect Modification by the MTHFR C677T Genotype. --- C677T ---

Pilot Evaluation of the Effect of Riboflavin Supplementation on Blood Pressure and Possible Effect Modification by the MTHFR C677T Genotype Hypertension, which results from a combination of multiple lifestyle and genetic factors, is a global public health problem affecting 1 billion people worldwide. --- C677T ---

Emerging evidence links a functional polymorphism in the MTHFR gene (rs1801133 C677T), encoding the folate-metabolising enzyme methylenetetrahydrofolate reductase to high blood pressure in adults. --- C677T ---

- Has available genotype data in the Keneba biobank needed for the current study - Available for the duration of the intervention period Exclusion Criteria: Taking vitamin B/multivitamin supplements - Ongoing pregnancy as confirmed by participant - History of digestive, hepatic, renal or hematological disorders, dementia - Epilepsy or taking anti-epileptic medications - Glucose-6-phosphate dehydrogenase (G6PD) deficiency High Blood Pressure MTHFR C677T Genotype Hypertension This is a recall-by-genotype randomized single-blind placebo-controlled micronutrient supplementation trial. --- C677T ---

The Keneba biobank will be used to identify all potential participants i.e. individuals genotyped for MTHFR C677T for this pilot study. --- C677T ---

The C677T polymorphism of the MTHFR gene is associated to several biochemicals imbalances, as changes in folic acid serum levels and some inflammatory markers, elevating the oxidative stress and increasing the risk of developing non communicable diseases (NCDs). Thus, a diet containing folate as a main antioxidant nutrient, could reduce not only the oxidative stress, but also has many others benefits for individuals with this genetic alteration, like the anti-inflammatory function, which could help restore the altered serum levels and minimizing or avoiding the development of future diseases. The aim of this study was to evaluate the influence of the C677T polymorphism of the MTHFR gene and the effect of a diet containing folate in the inflammatory markers levels, such as homocysteine, Tumor Necrosis Factor alpha (TNF-α) and interleukins in women with overweight or obesity. This is an intervention study, double-blind, held in a city in northeastern Brazil, with a sample of 48 adult women (20-59 years old) with BMI among 26.19 kg / m² and 49.64 kg / m². In which we evaluated the TNF-α levels, Interleukins 1β, Interleukin 6, Interleukin 8, Interleukin 12p70, Interleukin 10, homocysteine, folic acid and in addition to these markers evaluation, were made the genotyping for the C677T polymorphism in the MTHFR gene and the food consumption assessment by the 24 hour dietary recall (24HR). For the intervention, the sample was divided by randomization into two groups, each one with 24 indivuals, receiving daily during 8 weeks, a salad with 300g vegetables containing 191 ug of folate for group 1 and 90 ug for group 2.

NCT03186196

Conditions

1. Overweight and Obesity

Interventions

1. Dietary Supplement: Diet containing Folate

MeSH:Overweight

Influence of Polymorphism C677T MTHFR and Folate Intake in Interleukins, Homocysteine and TNF-α. --- C677T ---

Polymorphism C677T MTHFR and Folate Intake in Inflammatory Biomarkers The C677T polymorphism of the MTHFR gene is associated to several biochemicals imbalances, as changes in folic acid serum levels and some inflammatory markers, elevating the oxidative stress and increasing the risk of developing non communicable diseases (NCDs). --- C677T ---

Polymorphism C677T MTHFR and Folate Intake in Inflammatory Biomarkers The C677T polymorphism of the MTHFR gene is associated to several biochemicals imbalances, as changes in folic acid serum levels and some inflammatory markers, elevating the oxidative stress and increasing the risk of developing non communicable diseases (NCDs). --- C677T --- --- C677T ---

The aim of this study was to evaluate the influence of the C677T polymorphism of the MTHFR gene and the effect of a diet containing folate in the inflammatory markers levels, such as homocysteine, Tumor Necrosis Factor alpha (TNF-α) and interleukins in women with overweight or obesity. --- C677T ---

In which we evaluated the TNF-α levels, Interleukins 1β, Interleukin 6, Interleukin 8, Interleukin 12p70, Interleukin 10, homocysteine, folic acid and in addition to these markers evaluation, were made the genotyping for the C677T polymorphism in the MTHFR gene and the food consumption assessment by the 24 hour dietary recall (24HR). --- C677T ---

After the selection of individuals from the sample of adults who participated in the II DISANDNT / JP and considering the inclusion criteria and genotyping of the C677T polymorphism in the MTHFR gene, they were invited to participate. --- C677T ---

Recurrent miscarriage is a pregnancy loss before 20 weeks of gestation. The recurrent pregnancy loss(RPL) usually occurring in the first trimester of gestation and its rate is quite high (15-20% even in full reproductive period) . In 2012, the American Society for Reproductive Medicine Practice Committee issued a statement that defined recurrent pregnancy loss as a disease distinct from infertility defined by two or more failed consecutive pregnancies.approximately 40% of couples will have an etiology identified that could be associated with their loss.

NCT03209063

Conditions

1. Recurrent Miscarriage

Interventions

1. Diagnostic Test: polymerase chain reaction

MeSH:Abortion, Spontaneous Abortion, Habitual

HPO:Spontaneous abortion

40% of couples will have an etiology identified that could be associated with their loss.Thrombophilia is the tendency to develop thromboses due to inherited defects in the coagulation system.Thrombophilia was identified as a major cause of RPL,Because pregnancy is a hypercoagulable state, thromboembolism is the leading cause of antepartum and postpartum maternal mortality .The four most common genetic markers for thrombophilia are; prothrombin gene mutation(FII, G20210A), methylene tetra hydrofolate reductase mutations (MTHFR ,C677T and A1298C), factor V Leiden (FVL, G1691A) , and plasminogen activator inhibitor 1 (PAI-1) . --- G20210A --- --- C677T ---

This is a multicenter, randomized, double-blind, controlled clinical trial. It aims to investigate the effects of different doses of folic acid on lowering homocysteine (Hcy) in patients with hypertension with different genotypes of MTHFR C677T and to determine a dose-response relationship. This study consists of 3 phases: screening ( 2-10 days ), run-in period (0-2 weeks), and double-blind treatment (8 weeks). Follow-up visits will take place at the beginning of both the run-in period and the double-blind treatment period, and at the end of the 2nd, 4th, 6th, and 8th weeks. Hypertensive patients demonstrating good tolerance and adherence to angiotensin converting enzyme inhibitor (ACEI) drugs and who have already been genotyped for MTHFR C677T polymorphism may pass over the run-in period and directly enter the double-blind randomized treatment period. No medications that could affect the assessment of efficacy may be taken during any stage of the study.

NCT03472508

Conditions

1. Hypertension

Interventions

1. Drug: Folic Acid
2. Drug: Enalapril Maleate and Folic Acid Tablets (Yiye)
3. Drug: Enalapril

MeSH:Hypertension

HPO:Hypertension

A Randomized, Double-Blind, Controlled Trial on the Homocysteine-Lowering Effects of Different Doses of Folic Acid Among Patients With Hypertension According to Methylenetetrahydrofolate Reductase C677T Genotypes. --- C677T ---

It aims to investigate the effects of different doses of folic acid on lowering homocysteine (Hcy) in patients with hypertension with different genotypes of MTHFR C677T and to determine a dose-response relationship. --- C677T ---

Hypertensive patients demonstrating good tolerance and adherence to angiotensin converting enzyme inhibitor (ACEI) drugs and who have already been genotyped for MTHFR C677T polymorphism may pass over the run-in period and directly enter the double-blind randomized treatment period. --- C677T ---

Inclusion Criteria for Double-Blind Treatment Period: - （1）Completed MTHFR C677T gene polymorphism detection in run-in period or MTHFR C677T genotype already known in advance; - （2）Exhibited good tolerance to enalapril and good overall medication compliance (>80%) in run-in period or previously exhibited good tolerance and adherence to ACEI drugs in previous medication history. --- C677T ---

Inclusion Criteria for Double-Blind Treatment Period: - （1）Completed MTHFR C677T gene polymorphism detection in run-in period or MTHFR C677T genotype already known in advance; - （2）Exhibited good tolerance to enalapril and good overall medication compliance (>80%) in run-in period or previously exhibited good tolerance and adherence to ACEI drugs in previous medication history. --- C677T --- --- C677T ---

MTHFR C677T genotype will also be determined during this phase. --- C677T ---

Hypertensive patients demonstrating good tolerance and adherence to angiotensin converting enzyme inhibitor (ACEI) drugs and who have already been genotyped for MTHFR C677T polymorphism may pass over the run-in period and directly enter the double-blind randomized treatment period. --- C677T ---

Patients who remain eligible for participation in the study will first be stratified by gender and MTHFR C677T genotype (CC, CT, TT), for a total of 6 strata at the start of V2. --- C677T ---

For participants who complete the run-in period and are eligible to remain in the study, a randomized treatment allocation list will be generated using a stratified, block-wise, randomized approach by MTHFR C677T genotype and gender. --- C677T ---

Fluoropyrimidines are the backbone of chemotherapy regimes used to treat metastatic colorectal cancer (CRC). These drugs act in different pathways of folate metabolism altering DNA synthesis mainly by inhibition of the tymidylate synthase. For this reaction the 5,10-methylenetetrahydrofolate acts as cofactor. It has been demonstrated that A1298C and C677T polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene result in reduced enzyme activity that leads to reduced availability of this important cofactor. Hence, we hypothesized that the presence of these polymorphisms are related to the efficacy and toxicity of fluoropyrimidines in patients with CRC.

NCT03852290

Conditions

1. Colon Cancer
2. MTHFR Gene Mutation
3. Chemotherapeutic Toxicity
4. Chemotherapy Effect

MeSH:Colonic Neoplasms

HPO:Colon cancer Neoplasm of the colon

Association of the C677T and A1298C MTHFR Polymorphisms With Chemotherapy Effectiveness Among Patients With Metastatic Colorectal Cancer. --- C677T ---

C677T and A1298C MTHFR Polymorphisms and Fluoropyrimidine Effectiveness in Metastatic Colon Cancer Fluoropyrimidines are the backbone of chemotherapy regimes used to treat metastatic colorectal cancer (CRC). --- C677T ---

It has been demonstrated that A1298C and C677T polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene result in reduced enzyme activity that leads to reduced availability of this important cofactor. --- A1298C --- --- C677T ---

Assessment of C677T and A1298C MTHFR polymorphisms and overall survival. --- C677T ---

Assessment of C677T and A1298C MTHFR polymorphisms and progression-free survival. --- C677T ---

Assessment of C677T and A1298C MTHFR polymorphisms and response rate. --- C677T ---

Assessment of C677T and A1298 MTHFR polymorphisms and toxicity. --- C677T ---

Prospective assessment of toxicity according to the National Cancer Institute Common Toxicity Criteria (NCI-CTC) 4.0 criteria according to the C677T and A1298C polymorphisms. --- C677T ---

DNA extraction will be done from blood and tissue samples to determine the C677T (rs1801133) and 1298 A>C (rs18011131) polymorphisms of the MTHFR gene. --- C677T ---

The roles of thrombophilia and cardiovascular risk factors in sudden sensorineural hearing loss (SSNHL) remain controversial. Cochlear micro-thrombosis has been hypothesized as a possible pathogenic mechanism of SSNHL. The objective was thus to measure the levels of markers of macrovascular thrombosis and microvascular risk factors

NCT03919474

Conditions

1. Idiopathic SSNHL
2. Age Over 18

Interventions

1. Diagnostic Test: microvascular markers

MeSH:Hearing Loss

HPO:Hearing impairment

Thrombophilia screening included measurements of antithrombin , protein C, protein S, factor V Leiden, prothrombin G20210A, methylene tetrahydrofolate reductase (MTHFR) C677T, antiphospholipid antibodies anticardiolipin IgG and IgM and anti-beta2 glycoprotein 1 IgG), dilute Russell viper venom time , Rosner index, factor VIII, von Willebrand factor (vWF) activity and antigen. --- G20210A --- --- C677T ---

We hypothesized that polymorphism MTHFR C677T and A1298C should be associated with HD-MTX-related toxicities in children with NHL. Therefore, we aimed to retrospectively explore their relationships in this analysis.

NCT04283955

Conditions

1. Pediatric NHL

Interventions

1. Drug: High-dose MTX based chemotherapy

MeSH:Lymphoma, Non-Hodgkin

HPO:Non-Hodgkin lymphoma

A Retrospective Cohort Study: The Influence of MTHFR C677T and A1298C on the High-dose Methotrexate-Related Toxicities in Pediatric Patients With Non-Hodgkin Lymphoma. --- C677T ---

A Retrospective Cohort Study: The Influence of MTHFR C677T and A1298C on the High-dose Methotrexate-Related Toxicities in Pediatric Patients With Non-Hodgkin Lymphoma We hypothesized that polymorphism MTHFR C677T and A1298C should be associated with HD-MTX-related toxicities in children with NHL. --- C677T ---

A Retrospective Cohort Study: The Influence of MTHFR C677T and A1298C on the High-dose Methotrexate-Related Toxicities in Pediatric Patients With Non-Hodgkin Lymphoma We hypothesized that polymorphism MTHFR C677T and A1298C should be associated with HD-MTX-related toxicities in children with NHL. --- C677T --- --- A1298C --- --- C677T ---

We recorded the toxicities that occurred to the patients after the MTX infusion, including hematological suppression, hepatotoxicity, nephrotoxicity, oral mucositis, vomiting and diarrhea.. Inclusion Criteria: patients who were: - Aged ≤ 18 years old； - Diagnosed as the four main types of NHL, including lymphoblastic lymphoma (LBL), Burkitt's lymphoma (BL), anaplastic large cell lymphoma (ALCL), diffuse large B-cell lymphoma (DLBCL); - Treated with HD-MTX therapy at the dose of 5g/m2; - Genotyped by PCR following Sanger with respect to MTHFR C677T and A1298C - With complete medical records. --- C677T ---

Exclusion Criteria: patients who were: - Aged >18 years old； - Diagnosed as cancer types other than the four main types of NHL; - Treated with no HD-MTX therapy or at the dose other than 5g/m2; - Not genotyped by PCR following Sanger with respect to MTHFR C677T and A1298C - With incomplete medical records . --- C677T ---

Inclusion Criteria: patients who were: - Aged ≤ 18 years old； - Diagnosed as the four main types of NHL, including lymphoblastic lymphoma (LBL), Burkitt's lymphoma (BL), anaplastic large cell lymphoma (ALCL), diffuse large B-cell lymphoma (DLBCL); - Treated with HD-MTX therapy at the dose of 5g/m2; - Genotyped by PCR following Sanger with respect to MTHFR C677T and A1298C - With complete medical records. --- C677T ---

The most two extensively studied SNPs of MTHFR in relation to the toxicities of MTX are the C677T variant (Ala222Val, rs1801133) and A1298C variant (Glu 429Ala, rs1801131), both dampening the enzyme activity by 40-70%. --- C677T ---

Therefore, the aim of this retrospective study was to evaluate the influence of C677T and A1298C polymorphisms on HD-MTX-related toxicities in children with NHL treated according to BFM-modified protocols. --- C677T ---

A randomized controlled trial to study the efficacy and safety of Dabigatran in Cirrhotic patients who develop PVT.In this study the patients who meet the inclusion criteria will be randomized to either receive Dabigatran or placebo [multivitamin tablet]. Blood samples will be taken &Imaging will be done accordingly to notice progression or recanalization of PVT.The patients are followed up every 2 months up to 18 month .Then statistical analysis will be done to find whether the Dabigatran is efficacious in cirrhotic patients for recanalization of PVT.

NCT04433481

Conditions

1. Liver Cirrhosis
2. Portal Vein Thrombosis

Interventions

1. Drug: Dabigatran
2. Other: Placebo

MeSH:Liver Cirrhosis Thrombosis Venous Thrombosis Fibrosis

HPO:Cirrhosis Deep venous thrombosis Hepatic fibrosis Venous thrombosis

All included patients will be evaluated with - 1. Etiology of cirrhosis 2. Upper GI endoscopy 3. Haemogram (including reticulocyte count) 4. Coagulogram- PT/INR,APTT,TEG 5. Prothrombotic profile- protein c/protein-s/AT-III/Factor V Leiden mutation/ MTHFR C677T/PROTHROMBIN G20210A/ JAK2 V617F MUTATION / Anticardiolipin Ab. 6. Liver function tests, Renal function tests 7. Alpha fetoprotein/PIVKA II 8. USG abdomen with Doppler study 9. CECT-TP or CEMRI-TP to R/O HCC or angiography when PVT diagnosis doubtful. --- C677T ---

The primary purpose of this retrospective study was to investigate the influence of methylenetetrahydrofolate reductase (MTHFR) C677T/A1298C polymorphism on the survival of pediatric patients with Non-Hodgkin lymphoma (NHL) treated with modified NHL-BFM95 protocol in south China.

NCT04469543

Conditions

1. Pediatric Non-Hodgkin Lymphoma

MeSH:Lymphoma Lymphoma, Non-Hodgkin

HPO:Lymphoma Non-Hodgkin lymphoma

A Retrospective Cohort Study: Influence of MTHFR C677T and A1298C Polymorphisms on the Survival of Pediatric Patients With Non-Hodgkin's Lymphoma. --- C677T ---

A Retrospective Cohort Study: Influence of MTHFR C677T and A1298C Polymorphisms on the Survival of Pediatric Patients With Non-Hodgkin's Lymphoma The primary purpose of this retrospective study was to investigate the influence of methylenetetrahydrofolate reductase (MTHFR) C677T/A1298C polymorphism on the survival of pediatric patients with Non-Hodgkin lymphoma (NHL) treated with modified NHL-BFM95 protocol in south China. --- C677T ---

A Retrospective Cohort Study: Influence of MTHFR C677T and A1298C Polymorphisms on the Survival of Pediatric Patients With Non-Hodgkin's Lymphoma The primary purpose of this retrospective study was to investigate the influence of methylenetetrahydrofolate reductase (MTHFR) C677T/A1298C polymorphism on the survival of pediatric patients with Non-Hodgkin lymphoma (NHL) treated with modified NHL-BFM95 protocol in south China. --- C677T --- --- A1298C --- --- C677T ---

An estimated 22% of the global population is at an increased risk of a severe form of COVID-19, while one in four coronavirus patients admitted to intensive care unit will develop a pulmonary embolism. A major public health question remains to be investigated: why COVID-19 is mild for some, critically severe for others and why only a percentage of COVID-19 patients develop thrombosis, despite the disease's proven hypercoagulable state? Patients' intrinsic characteristics might be responsible for the deep variety of disease forms. Our study aims to assess the validity of the hypothesis according to which underlining genetic variations might be responsible for different degrees of severity and thrombotic events risks in the novel coronavirus disease. Moreover, we suspect that prothrombotic genotypes occuring in the genes that encode angiotensin-converting enzyme (ACE-DEL/INS) and angiotensinogen (AGT M235T) are involved in the unpredictable evolution of COVID-19, both in terms of severity and thrombotic events, due to the strong interactions of SARS-CoV-2 with the renin-angiotensin-aldosterone system (RAAS). Therefore, we also aim to assess the validity of the theory according to which there is a pre-existing atypical modulation of RAAS in COVID-19 patients that develop severe forms and/or thrombosis. Our hypothesis is based on various observations. Firstly, there is a substantial similarity with a reasonably related condition such as sepsis, for which there is a validated theory stating that thrombophilic mutations affect patients' clinical response. Secondly, racial and ethnic genetic differences are responsible for significant dissimilar thrombotic risks among various nations. Thirdly, an increase in stroke incidence has been reported in young patients with COVID-19, without essential thrombosis risk factors, favoring the idea that a genetic predisposition could contribute to increase the thrombotic and thromboembolic risk. Fourthly, the plasminogen activator inhibitor (PAI)-1 4G/5G inherited mutation was found to be responsible for a thrombotic state causing post-SARS osteonecrosis.

NCT04519398

Conditions

1. Covid19
2. Corona Virus Infection
3. Thrombosis
4. ARDS
5. Thrombophilia
6. Thromboses, Intracranial
7. Thromboses, Deep Vein
8. RAAS

Interventions

1. Genetic: Complete thrombophilic profile testing by multiplex PCR

MeSH:Coronavirus Infections Severe Acute Respiratory Syndrome Intracranial Thrombosis Thrombosis Venous Thrombosis Thrombophilia

HPO:Deep venous thrombosis Hypercoagulability Venous thrombosis

Inclusion Criteria: - All hospitalized patients with cough, fever, myalgia - with confirmed COVID-19 infection • All patients with a positive SARS-CoV-2 PCR test Exclusion Criteria: - Patient refusal - Uncertain tests results - Children Inclusion Criteria: - All hospitalized patients with cough, fever, myalgia - with confirmed COVID-19 infection • All patients with a positive SARS-CoV-2 PCR test Exclusion Criteria: - Patient refusal - Uncertain tests results - Children Covid19 Corona Virus Infection Thrombosis ARDS Thrombophilia Thromboses, Intracranial Thromboses, Deep Vein RAAS Coronavirus Infections Severe Acute Respiratory Syndrome Intracranial Thrombosis Thrombosis Venous Thrombosis Thrombophilia The study's protocol will cover the following steps: • Collected data from COVID-19 patients at admission will include: - Descriptive general demographic data - Previous pathologies and thrombosis risk factors - Routine biological data (the blood routinely collected will also be used for SARS-Cov-2 specific RT-PCR exam) Complete thrombophilic profile testing by multiplex PCR and reverse hybridization of DNA to assess the presence of prothrombotic genotypes: - Factor V Leiden - Factor V 4070 A G (Hr2) - Factor II G20210A - Methylenetetrahydrofolate reductase (MTHFR) C677T - MTHFR A1298C - Cystathionine β-synthase (CBS) 844ins68 - PAI-1 4G/5G - Glycoprotein IIIa T1565C (HPA-1a/b) - ACE-DEL/INS - Apolipoprotein E (ApoE) - AGT M235T - Angiotensin II type 1 receptor (ATR-1) A1166C - Fibrinogen - 455 G A - Factor XIII Val34Leu SpO2, respiratory rate, PaO2/FiO2 RAAS components - Imagistic procedures (chest X-ray or CT) - All patients with a positive SARS-CoV-2 PCR test will be included - Patients will be divided into three groups depending on disease severity and the presence of thrombotic state: - 1st group includes COVID-19 patients with proved - venous thrombosis (deep vein thrombosis, pulmonary embolism or venous thrombosis occurring in more atypical places such as in the veins of the brain, liver, kidney, mesenteric vein and the veins of the arms) - or arterial thrombosis (heart attacks, strokes) - 2nd group encompasses asymptomatic patients and those with mild or moderate disease, according to current guidelines, without thrombosis: no symptoms or evidence of lower respiratory disease by clinical assessment or imaging and a SpO2 ≥ 94% - 3rd group includes severe disease, according to current guidelines, without thrombosis: respiratory frequency > 30 breaths per minute, SpO2 < 94%, PaO2/FiO2 < 300 mmHg, or lung infiltrates >50% - Statistical methods will be employed to check for significant differences between prothrombotic mutations frequency and RAAS components levels for the three groups --- G20210A --- --- C677T ---