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https://www.readbyqxmd.com/read/27905385/-a-role-of-genetic-factors-and-related-disorder-of-the-folate-cycle-in-ischemic-stroke
#1
V M Shklovsky, I P Lukashevich, A Yu Remennik, S M Gerasimova, G S Selishchev, D I Malin, V V Valyaeva
AIM: To study a role of MTHFR mutations and their associations with the disturbances of basic parameters of the folate cycle in the development of ischemic stroke (IS). MATERIAL AND METHODS: Fifty-one post-stroke patients, 26 women and 25 men, aged from 29 to 87 years, were included in the study. The control group consisted of 47 healthy people, 23 women and 24 men, aged from 30 to 83 years. MTHFR: rs1801131 and rs1801133 polymorphisms were genotyped. Contents of folate, B12 and homocysteine were measured...
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/27855570/genetics-of-suspected-thrombophilia-in-serbian-females-with-infertility-including-three-cases-homozygous-for-fii-20210a-or-fv-1691a-mutations
#2
Jelena Djurovic, Oliver Stojkovic, Jelena Todorovic, Aleksandra Brajic, Sanja Stankovic, Svetlana Obradovic, Gorana Stamenkovic
Reproductive failure (recurrent foetal loss, unexplained infertility and IVF implantation failure) may be, in a number of cases, explained by thrombophilia, either acquired or inherited. Several genes contribute to thrombophilia, some with major effect (Factor V, Factor II), and some with minor effect (MTHFR, PAI-1, ATIII, etc.). The aim of this study was to estimate frequency of thrombophilia-associated genotypes (FII20210G > A, FV1691G > A, MTHFR677C > T and PAI-1 -675 4G/5G) in a group of 1631 Serbian women experiencing reproductive failure, and compare it with a healthy, female control group...
November 18, 2016: Human Fertility: Journal of the British Fertility Society
https://www.readbyqxmd.com/read/27845948/5-fluorouracil-degradation-rate-could-predict-toxicity-in-stages-ii-iii-colorectal-cancer-patients-undergoing-adjuvant-folfox
#3
Concetta E Onesti, Andrea Botticelli, Marco La Torre, Marina Borro, Giovanna Gentile, Adriana Romiti, Luana Lionetto, Antonella Petremolo, Mario Occhipinti, Michela Roberto, Rosa Falcone, Maurizio Simmaco, Paolo Marchetti, Federica Mazzuca
5-Fluorouracil is commonly used for gastrointestinal cancer treatment in an adjuvant setting; however, the toxicity can lead to a reduction, delay, or discontinuation of treatment. We retrospectively investigated the association between the 5-fluorouracil degradation rate (5-FUDR) and genetic polymorphisms of TSER, DPYD, and MHTFR with toxicity in colorectal cancer patients treated with adjuvant FOLFOX. Pretreatment 5-FUDR and MTHFR A1298T or C677T, TSER, and DPYD gene polymorphisms were characterized in stages II-III colorectal cancer patients...
November 11, 2016: Anti-cancer Drugs
https://www.readbyqxmd.com/read/27820879/heparin-for-the-treatment-of-thrombosis-in-neonates
#4
REVIEW
Olga Romantsik, Matteo Bruschettini, Simona Zappettini, Luca Antonio Ramenghi, Maria Grazia Calevo
BACKGROUND: Among pediatric patients, newborns are at highest risk of developing thromboembolism. Neonatal thromboembolic (TE) events may consist of both venous and arterial thromboses and often iatrogenic complications (eg, central catheterization). Treatment guidelines for pediatric patients with TE events most often are extrapolated from the literature regarding adults. Options for the management of neonatal TE events include expectant management; nitroglycerin ointment; thrombolytic therapy or anticoagulant therapy, or a combination of the two; and surgery...
November 7, 2016: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/27805340/heterozygous-mthfr-a1298c-mutation-causing-cerebral-venous-sinus-thrombosis
#5
Jimil H Shah, Kaustubh D Salagre, Ravindra Nath Sahay, Abhinav Anand
A 21 year college student came with a history of generalized tonic-clonic seizures. MR Venography revealed the presence of left sigmoid and transverse sinus thrombosis with secondary venous hemorrhagic infarcts. After thorough investigation into cause of thrombosis patient was found to have a heterozygous MTHFR A1298C mutation which was causing cerebral venous sinus thrombosis.
November 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27805237/the-role-of-genetics-in-coronary-artery-bypass-surgery-patients-under-30-years-of-age
#6
Sabit Sarikaya, Ebuzer Aydin, Yucel Ozen, Tanil Ozer, Kaan Kirali, Murat Bulent Rabus
AIM: We undertook genetic assessment of coronary artery disease (CAD) in 20 patients aged 30 years or less undergoing coronary artery bypass grafting (CABG) surgery, to investigate the prognostic value of pre-defined genes. METHODS: Twenty patients, who underwent CABG surgery between December 2001 and May 2013, were retrospectively analysed to find out the role their genetic make-up played in their disease. We used three genetic diagnostic tests, the plasminogen activator inhibitor (PAI) -1 gene, the A1/A2 polymorphism of glycoprotein IIIa (GpIIIa) gene, and common polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) gene...
October 21, 2016: Cardiovascular Journal of Africa
https://www.readbyqxmd.com/read/27785407/frequency-and-association-of-1691-g-a-fvl-20210-g-a-pt-and-677-c-t-mthfr-with-deep-vein-thrombosis-in-the-population-of-bosnia-and-herzegovina
#7
A Jusić-Karić, R Terzić, Z Jerkić, A Avdić, M Pođanin
The 1691 (G>A) factor V Leiden (FVL) and 20210 (G>A) prothrombin (PT) mutations are the two most common genetic risk factors in venous thromboembolism. The 677 (C>T) methylene tetrahydrofolate reductase (MTHFR) mutation is the most frequently mentioned as an independent genetic risk factor for venous thromboembolism. As there are limited published data on the prevalence of the 1691, 20210 and 677 mutations in our population, the aim of this study was to determine the frequencies and association of these deep vein thrombosis mutations in the Bosnian population...
July 1, 2016: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/27759448/toward-optimal-set-of-single-nucleotide-polymorphism-investigation-before-ivf
#8
A V Ivanov, A G Dedul, Y N Fedotov, E V Komlichenko
BACKGROUND: At present, the patient preparation for IVF needs to undergo a series of planned tests, including the genotyping of single nucleotide polymorphism (SNP) alleles of some genes. In former USSR countries, such investigation was not included in overwhelming majority of health insurance programs and paid by patient. In common, there are prerequisites to the study of more than 50 polymorphisms. An important faced task is to determine the optimal panel for SNP genotyping in terms of price/number of SNP...
October 2016: Gynecological Endocrinology
https://www.readbyqxmd.com/read/27743313/functional-characterization-of-missense-mutations-in-severe-methylenetetrahydrofolate-reductase-deficiency-using-a-human-expression-system
#9
Patricie Burda, Terttu Suormala, Dorothea Heuberger, Alexandra Schäfer, Brian Fowler, D Sean Froese, Matthias R Baumgartner
5,10-Methylenetetrahydrofolate reductase (MTHFR) catalyzes the NADPH-dependent reduction of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate using FAD as the cofactor. Severe MTHFR deficiency is the most common inborn error of folate metabolism, resulting in hyperhomocysteinemia and homocystinuria. Approximately 70 missense mutations have been described that cause severe MTHFR deficiency, however, in most cases their mechanism of dysfunction remains unclear. Few studies have investigated mutational specific defects; most of these assessing only activity levels from a handful of mutations using heterologous expression...
October 14, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27734511/review-article-the-aetiology-of-primary-budd-chiari-syndrome-differences-between-the-west-and-china
#10
REVIEW
X Qi, G Han, X Guo, V De Stefano, K Xu, Z Lu, H Xu, A Mancuso, W Zhang, X Han, D C Valla, D Fan
BACKGROUND: China may have the largest number of Budd-Chiari syndrome (BCS) cases in the world (at least 1914 original papers were published, and at least 20 191 BCS patients were reported). Considering the discrepancy in the clinical profiles and preferred treatment selection of primary BCS between the West and China, understanding its aetiology in these two different regions is very important. AIM: To review the data from large cohort studies and meta-analyses to illustrate the epidemiology of risk factors for BCS in the West and China...
December 2016: Alimentary Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/27729560/thrombophilic-gene-mutations-in-relation-to-different-manifestations-of-venous-thromboembolism-a-single-tertiary-center-study
#11
Tahir Bezgin, Cihangir Kaymaz, Özgür Akbal, Fatih Yılmaz, Hacer Ceren Tokgöz, Nihal Özdemir
BACKGROUND: Venous thromboembolism (VTE) is a common and potentially lethal disorder that manifests mainly as deep vein thrombosis (DVT) of the extremities or pulmonary embolism (PE) and occurs as a consequence of genetic and environmental risk factors. We aimed to assess the role of inherited thrombophilia as a causative or additive factor in the development of VTE. METHODS: The study included 310 patients (female: 154; mean age: 52.3 ± 16.9 years) with a first episode of VTE and 289 age- and sex-matched healthy controls...
October 11, 2016: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/27725412/folate-deficiency-was-associated-with-increased-alanine-aminotransferase-and-glutamyl-transpeptidase-concentrations-in-a-chinese-hypertensive-population-a-cross-sectional-study
#12
Wen-Xing Li, Wei Li, Jia-Qian Cao, Haiyue Yan, Yuanyuan Sun, Hong Zhang, Qiang Zhang, Ling Tang, Manman Wang, Jing-Fei Huang, Dahai Liu
Alanine aminotransferase (ALT), aspartate transaminase (AST), and glutamyl transpeptidase (GGT) were three key enzymes in the hepatic metabolism. This study aimed to investigate the effect of homocysteine (Hcy) metabolism gene polymorphisms and serum Hcy and folate level on the hepatic functions in a Chinese hypertensive population. A representative sample with 480 subjects aged 28-75 was enrolled in 2005.9-2005.12 from six hospitals in different Chinese regions. Serum ALT, AST and GGT were measured by using an automatic biochemistry analyzer...
2016: Journal of Nutritional Science and Vitaminology
https://www.readbyqxmd.com/read/27713094/genetic-variation-associated-with-the-occurrence-and-progression-of-neurological-disorders
#13
Julian Little, Caroline Barakat-Haddad, Rosemary Martino, Tamara Pringsheim, Helen Tremlett, Kyla A McKay, Pascal van Lieshout, Stephanie J Walsh, James Gomes, Daniel Krewski
This paper presents an overview of genetic variation associated with the onset and progression of 14 neurological disorders, focusing primarily on association studies. The 14 disorders are heterogeneous in terms of their frequency, age of onset, etiology and progression. There is substantially less evidence on progression than onset. With regard to onset, the conditions are diverse in terms of their epidemiology and patterns of familial aggregation. While the muscular dystrophies and Huntington's disease are monogenic diseases, for the other 12 conditions only a small proportion of cases is associated with specific genetic syndromes or mutations...
October 3, 2016: Neurotoxicology
https://www.readbyqxmd.com/read/27706773/relationship-between-genetic-polymorphisms-of-methylenetetrahydrofolate-reductase-and-breast-cancer-chemotherapy-response
#14
L Yang, X W Wang, L P Zhu, H L Wang, B Wang, T Wu, Q Zhao, D L X T JinSiHan, X Y Wang
Activity of methylenetetrahydrofolate reductase (MTHFR), an enzyme involved in folate metabolism, is influenced by mutations in the corresponding gene, contributing to a decrease in 5,10-MTHF. Due to such polymorphisms, individuals differ in MTHFR enzyme activity and plasma folate levels. We investigated the relationship between two common MTHFR polymorphisms (C677T and A1298C) and breast cancer (BC) chemotherapy response. From February 2013 to January 2016, 148 advanced BC patients at the Center Hospital of Cangzhou were enrolled and treated with six different chemotherapy regimens...
September 23, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/27698607/hyperhomocysteinemia-and-its-treatment-in-patients-with-parkinson-s-disease
#15
Omer C Ibrahimagic, Dzevdet Smajlovic, Zikrija Dostovic, Zejneba Pasic, Suljo Kunic, Amra Iljazovic, Denisa Salihovic Hajdarevic
INTRODUCTION: Homocysteine is process-product of methionine demethylation. It has proatherogenic, prothrombotic, prooxidative, proapoptotic, osteoporotic, neurotoxic, neuroinflamatory, and neurodegenerative effects. Hyperhomocysteinemia correlates with C667T MTHFR mutation, decrease of folic acid and vitamin B, as well as prolonged use of certain medications. MATERIALS AND METHODS: We measured levels of homocysteine in thirty patients (15::15) with "de novo" Parkinson's disease, with average age 64...
July 24, 2016: Materia Socio-medica
https://www.readbyqxmd.com/read/27686649/association-of-mycobacterium-infections-in-patients-with-mendelian-susceptibility-to-mycobacterial-disease-with-venous-thromboembolism
#16
Maryam Alinejad Dizaj, Seyed Alireza Mahdaviani, Payam Tabarsi, Hamed Ahari, Ahmad Ebrahimi, Seyed Alireza Nadji, Habib Emami, Esmaeil Mortaz
An association between a hypercoagulable state and Mendelian susceptibility to mycobacterial disease (MSMD) has been established in a few studies; resultant thrombosis is considered rare. In a case-control study, the prevalence of factor V Leiden, prothrombin G20210A and methylenetetrahydrofolate reductase (MTHFR) C677T, A1298C mutations were investigated in mycobacterium-infected patients. The study comprised 30 patients with mycobacterial infections (invasive, disseminated and/or recurrent infections with Bacille Calmette-Guerin or non-tuberculosis mycobacteria and Mycobacterium Tuberculosis with positive results for acid-fast bacilli and tuberculin skin tests) and 30 normal healthy controls...
October 2016: Microbiology and Immunology
https://www.readbyqxmd.com/read/27619324/a-variety-of-gene-polymorphisms-associated-with-idiopathic-granulomatous-mastitis
#17
Sebahattin Destek, Vahit Onur Gul, Serkan Ahioglu
Idiopathic granulomatous mastitis (IGM) is a rare and chronic inflammatory disorder. IGM mimics breast cancer regarding its clinical and radiological features. Etiology of IGM remains unclarified. Our patient was 37-year-old and 14 weeks pregnant. There was pain, redness and swelling in the right breast. The mass suggestive of malignancy was detected in sonography. Serum CA 125 and CA 15-3 levels were high. Genetic analysis was performed for the etiology. methylenetetrahydrofolate reductase (MTHFR) C 677 TT, β-fibrinogen-455 G>A, plasminogen activator inhibitor (PAI)-1 5 G/5 G, angiotensin-converting enzyme (ACE) I/D mutation was found...
2016: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/27613114/genetic-causes-of-parkinson-s-disease-in-the-maltese-a-study-of-selected-mutations-in-lrrk2-mthfr-qdpr-and-spr
#18
Charmaine Zahra, Christine Tabone, Graziella Camilleri, Alex E Felice, Rosienne Farrugia, Stephanie Bezzina Wettinger
BACKGROUND: Mutations in Leucine-rich repeat kinase 2 NM_198578 (LRRK2 c.6055G > A (p.G2019S), LRRK2 c.4321C > G (p.R1441G)) and alpha-synuclein NM_000345 (SNCA c.209G > A (p.A53T)) genes causing Parkinson's disease (PD) are common in Mediterranean populations. Variants in the Quinoid Dihydropteridine Reductase NM_000320 (QDPR c.68G > A (p.G23D)), Sepiapterin Reductase NM_003124 (SPR c.596-2A > G) and Methylenetetrahydrofolate Reductase NM_005957 (MTHFR c...
2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27603544/portal-vein-thrombosis-in-a-preterm-newborn-with-mutation-of-the-mthfr-and-pai-1-genes-and-sepsis-by-candida-parapsilosis
#19
Mario Giuffrè, Clelia Lo Verso, Gregorio Serra, Giovanni Moceri, Marcello Cimador, Giovanni Corsello
Objective This report discusses the role of both congenital and acquired risk factors in the pathogenesis of portal vein thrombosis (PVT). Study Design We describe the clinical management and treatment of PVT in a preterm newborn with a homozygous mutation of the methylenetetrahydrofolate reductase (MTHFR) and plasminogen activator inhibitor-1 (PAI-1) genes and sepsis by Candida parapsilosis. Results Although literature data suggest a minor role of genetic factors in thrombophilia in the case of only one mutation, we hypothesize that combined thrombophilic genetic defects may have a cumulative effect and significantly increase the thrombotic risk...
September 2016: American Journal of Perinatology
https://www.readbyqxmd.com/read/27588178/association-of-c677t-mthfr-and-g20210a-fii-prothrombin-polymorphisms-with-susceptibility-to-myocardial-infarction
#20
Wiam Hmimech, Hind Hassani Idrissi, Brehima Diakite, Dalila Baghdadi, Farah Korchi, Rachida Habbal, Sellama Nadifi
Myocardial infarction (MI) is a common complex pathology, localized in the main leading causes of mortality worldwide. It is the result of the interaction of genetic and environmental factors. The aim of the present study was to investigate the potential association of C677T 5,10-methylenetetrahydrofolate reductase (MTHFR) (rs1801133) and G20210A factor II prothrombin (FII) (rs1799963) polymorphisms with the susceptibility of MI. Following extraction by the standard salting-out procedure, DNA samples of 100 MI patients and 182 apparently healthy controls were genotyped by polymerase chain reaction-restriction fragment length polymorphism using HinfI and HindIII restriction enzymes, respectively...
September 2016: Biomedical Reports
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