Read by QxMD icon Read


Maryam Alinejad Dizaj, Seyed Alireza Mahdaviani, Payam Tabarsi, Hamed Ahari, Ahmad Ebrahimi, Seyed Alireza Nadji, Habib Emami, Esmaeil Mortaz
Hypercoagulable state in Mendelian Susceptibility to Mycobacterium Disease (MSMD) patients who are prone to mycobacterium infection has been established in a few studies and thrombosis considered as a rare. In a case-control study, the prevalence of factor V Leiden (FVL), Prothrombin (PTH) G20210A and Methylenetetrahydrofolate Reductase (MTHFR) C677T, A1298C mutations, were investigated among mycobacterium infected patients. The study were compromised 30 patients with mycobacterium infections (Invasive, disseminated and/ or recurrent infections with Bacille Calmette-Guerin (BCG) or non Tuberculosis Mycobacterium (NTM) and Mycobacterium Tuberculosis (MTB), with positive result for Acid Fast Bacilli (AFB), and Tuberculin skin test (TST)) and 30 normal healthy controls...
September 30, 2016: Microbiology and Immunology
Christopher Konialis, Konstantinos Spengos, Panagiotis Iliopoulos, Sophia Karapanou, Elias Gialafos, Birgitta Hagnefelt, Konstantinos Vemmos, Nikolaos Zakopoulos, Constantinos Pangalos
BACKGROUND: Although several studies in various countries have indicated that the presence of the E4 allele of the apolipoprotein-E (APOE) gene is a risk factor for ischemic cerebrovascular disease, the strength of this association still remains a matter of debate. OBJECTIVES: The aim of the study was to determine the frequency of the APOE E4 allele and various other gene polymorphisms in in a well-characterized sample of Greek patients and to evaluate the potential associations with the risk of ischemic stroke (IS) and coronary heart disease (CHD)...
May 2016: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
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
Jinghong Zhang, Lijun Zhang, Guangming Li
BACKGROUND: Studies investigating the association between the methylenetetrahydrofolate reductase (MTHFR) gene 1298A>C polymorphism and the risk of breast cancer have reported inconsistent results. So, we performed this updated meta-analysis and tried to give a more precise estimation of association between MTHFR gene 1298A>C polymorphism and breast cancer susceptibility. METHODS: Relevant studies published before 1 January 2016 were identified by searching PubMed and EMBASE...
2016: World Journal of Surgical Oncology
Claudia M Hattinger, Paola Biason, Erika Iacoboni, Sara Gagno, Marilù Fanelli, Elisa Tavanti, Serena Vella, Stefano Ferrari, Andrea Roli, Rossana Roncato, Luciana Giodini, Katia Scotlandi, Piero Picci, Giuseppe Toffoli, Massimo Serra
This study aimed to identify associations between germline polymorphisms and risk of high-grade osteosarcoma (HGOS) development, event-free survival (EFS) and toxicity in HGOS patients treated with neo-adjuvant chemotherapy and surgery.Germline polymorphisms of 31 genes known to be relevant for transport or metabolism of all four drugs used in HGOS chemotherapy (methotrexate, doxorubicin, cisplatin and ifosfamide) were genotyped in 196 patients with HGOS and in 470 healthy age and gender-matched controls. Of these 196 HGOS patients, a homogeneously treated group of 126 patients was considered for survival analyses (survival cohort)...
August 22, 2016: Oncotarget
Youngsok Choi, Jung Oh Kim, Sung Han Shim, Yubin Lee, Ji Hyang Kim, Young Joo Jeon, Jung Jae Ko, Woo Sik Lee, Nam Keun Kim
The one-carbon metabolism pathway disorder was important role in successful pregnancy. The MTHFR and TS protein were crucial factor in one-carbon metabolism. To investigate the association between recurrent implantation failure (RIF) and enzymes in the one-carbon metabolism pathway. A total of 120 women diagnosed with RIF and 125 control subjects were genotyped for MTHFR 677C>T, 1298A>C, TSER 2R/3R and TS 1494del/ins by a polymerase chain reaction-restriction fragment length polymorphism assay. According to the gene-gene combination analysis, the MTHFR 677/MTHFR 1298 (TT/AA) and MTHFR 677/TS 1494 (TT/6bp6bp) genetic combinations were associated with relatively higher risks [adjusted odds ratio (AOR), 2...
2016: PloS One
Hatip Aydin, Resul Arisoy, Ali Karaman, Emre Erdoğdu, Arda Çetinkaya, Bilge B Geçkinli, Hasan Şimşek, Oya Demirci
BACKGROUND/AIM: Neural tube defects (NTDs) are common congenital malformations that develop as a result of interactions between several genes and environmental factors. Many factors have been investigated in order to understand the etiology of NTDs, and many studies have identified folate intake as a common contributing factor. The exact etiology of the disease is still unknown. MATERIALS AND METHODS: In this study, we compared serum folate, vitamin B12, and homocysteine levels, along with common thrombophilia-related genetic variations, including factor V Leiden, factor II g...
2016: Turkish Journal of Medical Sciences
Nataša Karas-Kuželički, Simona Mencej-Bedrač, Janez Jazbec, Janja Marc, Irena Mlinarič-Raščan
Treatment induced non-traumatic osteonecrosis (ON) has been reported increasingly in children treated for acute lymphoblastic leukemia (ALL). Several risk factors for ON have been identified in childhood cancer patients; however, their diagnostic and prognostic power is limited and the etiology of the disease remains unclear. Therefore, a continuous effort is focused on the identification of additional ON risk factors. We performed a retrospective study of 313 childhood ALL patients to test the association between the ON occurrence in children receiving ALL therapy and common polymorphisms in potential target genes: Thiopurine S-methyltransferase (TPMT; 460G>A, 719A>G), 5,10-methylenetetrahydrofolate reductase (MTHFR; 677C>T, 1298A>C), estrogen receptor alpha 1 (ESR1; XbaI) and collagen type I, α1 (COL1A1; Sp1)...
August 2016: Experimental and Therapeutic Medicine
Dawid Szpecht, Dagmara Frydryszak, Norbert Miszczyk, Marta Szymankiewicz, Janusz Gadzinowski
INTRODUCTION: Intraventricular hemorrhage (IVH) is mostly documented in premature infants, and the younger the gestational age, the more often it occurs. IVH is very rarely reported in full-term neonates. CASE REPORT: Retrospective analysis was performed in 35939 full-term neonates, who were born in the Clinical Hospital of Gynecology and Obstetrics at the University of Medical Sciences in Poznań. Clinical data were retrieved from their medical records. We report a case series of 2 term newborns, who developed severe IVH grade 3 and 4 with no evidence of asphyxia, neuroinfection, TORCH infections, coagulation disorders and trombocytopenia, metabolic disorders, arteriovenous malformations, and selected genetic abnormalities (factor V Leiden 1601G > A polymorphism and MTHFR 677C > T; 1298A > C polymorphisms)...
July 8, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Mehmet Serdar Kutuk, Aslı Subasioglu, Semih Uludag, Nazife Tascioglu, Mahmut Tuncay Ozgun, Munis Dundar
OBJECT: The aim of this study was to assess the effect of parental 5, 10-methylenetetrahydrofolate reductase (MTFHR) gene polymorphisms (677C/T, and 1298A/C) on response to single dose methotrexate (MTX) treatment in tubal ectopic pregnancy. MATERIAL AND METHODS: In this prospective cohort study, cases with unruptured tubal ectopic pregnancies (TEP) were grouped into two according to their response to single dose methotrexate treatment (Group1, responsive, n: 88; Group 2, unresponsive, n: 21)...
July 5, 2016: Journal of Maternal-fetal & Neonatal Medicine
Masayuki Hashiguchi, Tomomi Tsuru, Kumika Miyawaki, Midori Suzaki, Jun Hakamata, Mikiko Shimizu, Shin Irie, Mayumi Mochizuki
BACKGROUND: Rheumatoid arthritis (RA) is a chronic autoimmune disease characterized by systemic inflammatory status, joint destruction, disability, and pain. Methotrexate (MTX) has been confirmed to reduce disease activity and delay or stabilize the development of bone erosions. However, major drawbacks are that patients show great interindividual variability in response to MTX and the unpredictable occurrence of side effects. A strategy for personalized MTX treatment to predict its efficacy and toxicity has not yet been determined...
2016: Journal of Pharmaceutical Health Care and Sciences
Jeong A Park, Hee Young Shin
BACKGROUND: Methotrexate (MTX), one of the main drugs used to treat osteosarcoma, is a representative folic acid antagonist. Polymorphisms of various enzymes involved in the metabolism of MTX could contribute to differences in response to MTX in pediatric osteosarcoma patients. METHODS: Blood and tissue samples were obtained from 37 pediatric osteosarcoma patients who were treated with high-dose MTX therapy. The following 4 single nucleotide polymorphisms (SNPs) were analyzed: ATIC 347C>G, MTHFR 677C>T, MTHFR 1298A>C and SLC19A1 80G>A...
March 2016: Blood Research
Burcu Yazıcıoğlu, Zühre Kaya, Sezen Güntekin Ergün, Ferda Perçin, Ülker Koçak, İdil Yenicesu, Türkiz Gürsel
OBJECTIVE: High-dose methotrexate (HD-MTX) is widely used in the consolidation phase of childhood acute lymphoblastic leukemia (ALL), but the roles that polymorphisms in folate-related genes (FRG) play in HD-MTX toxicity and prognosis in children with ALL are not well known. The aims of this study were to i) investigate the frequencies of polymorphisms in the genes for thymidilate synthase (TS), methionine synthase reductase (MTRR), and methylene tetrahydrofolate reductase (MTHFR) in Turkish children with ALL, and ii) assess for associations between these polymorphisms and HD-MTX-related toxicity and leukemia prognosis in this patient group...
April 18, 2016: Turkish Journal of Haematology: Official Journal of Turkish Society of Haematology
María Enciso, Jonás Sarasa, Leoni Xanthopoulou, Sara Bristow, Megan Bowles, Elpida Fragouli, Joy Delhanty, Dagan Wells
MTHFR is an important enzyme in the metabolism of folic acid and is crucial for reproductive function. Variation in the sequence of MTHFR has been implicated in subfertility, but definitive data are lacking. In the present study, a detailed analysis of two common MTHFR polymorphisms (c.677C>T and c.1298A>C) was performed. Additionally, for the first time, the frequencies of different MTHFR alleles were assessed in preimplantation embryos. Several striking discoveries were made. Firstly, results demonstrated that maternal MTHFR c...
May 2016: Human Genetics
Sarah Long, Jack Goldblatt
BACKGROUND: A polymorphism is a variant within a gene that does not necessarily affect its function, unlike a pathogenic mutation. Genetic testing for two common polymorphisms in the methylenetetrahydrofolate reductase gene (MTHFR), 677C>T and 1298A>C, is being accessed by general practitioners (GPs) and alternative medicine practitioners (based on in-house records from referrals), and promoted through some pharmacies in Western Australia (based on the authors' personal communication)...
April 2016: Australian Family Physician
Hubert Wolski, Maria Kocięcka, Aleksandra E Mrozikiewicz, Magdalena Barlik, Grażyna Kurzawińska
OBJECTIVES: The aim of the study was to evaluate the frequency of the 677C>T and 1298A>C polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) gene, as well as the coexistence of both these genetic variants in women from the Polish population. MATERIAL AND METHODS: A total of 662 women from the Polish population were enrolled in the study group. The frequency of the investigated genotypes of the 677C>T and 1298A>C polymorphisms of the MTHFR gene was analyzed with the use of PCR/RFLP methods...
October 2015: Ginekologia Polska
X F Zhang, T Liu, Y Li, S Li
We performed a case-control study to investigate the association between single nucleotide polymorphisms in the MTHFR gene (677C/T and 1298A/C) and risk of breast cancer. This case-control study included 216 breast cancer cases and 216 controls. The MTHFR 677C/T and 1298A/C gene polymorphisms were assessed by polymerase chain reaction restriction fragment length polymorphism. We observed an increased likelihood of breast cancer patients having a higher age at menarche and first live birth, and a greater family history of breast cancer, especially among first-degree relatives...
2015: Genetics and Molecular Research: GMR
Gabrielle Bradshaw, Heidi G Sutherland, Emily T Camilleri, Rodney A Lea, Larisa M Haupt, Lyn R Griffiths
The methylenetetrahydrofolate reductase (MTHFR) gene codes for the MTHFR enzyme which plays a key role in the pathway of folate and methionine metabolism. Polymorphisms of genes in this pathway affect its regulation and have been linked to lymphoma. In this study we examined whether we could detect an association between two common non-synonymous MTHFR polymorphisms, 677C > T (rs1801133) and 1298A > C (rs1801131), and susceptibility to non-Hodgkin lymphoma (NHL) in an Australian case-control cohort...
December 2015: Meta Gene
Ewelina Kałużna, Ewa Strauss, Olga Zając-Spychała, Ewelina Gowin, Bogna Świątek-Kościelna, Jerzy Nowak, Marta Fichna, Przemysław Mańkowski, Danuta Januszkiewicz-Lewandowska
Methotrexate (MTX) is commonly used agent in therapy of malignancies, including acute lymphoblastic leukemia (ALL). Based on the literature data it is known that MTX elimination and toxicity can be affected by polymorphisms in genes encoding enzymes involved in MTX metabolism. The aim of our study was to investigate the influence of C677T and A1298C polymorphisms in methylenetetrahydrofolate reductase (MTHFR) gene on MTX-induced toxicity during treatment of children with ALL. We also tried to answer the question whether simultaneous occurrence of these two polymorphisms has a clinical significance...
December 15, 2015: European Journal of Pharmacology
K V Bogdanov, M M Nikitin, M N Slyadnev
Single nucleotide polymorphism (SNP) genotyping methods are widely used for the detection of hereditary thrombophilias caused by genetic defects in the coagulation system. The hereditary thrombophilias are frequently associated with higher incidences of point mutations in hemostasis (F2 20210G>A, F5 1691G>A) and folate metabolism (MTHFR 677C>Т, MTHFR 1298A>C) genes. Moreover, the combination of gene abnormalities in F2 or/and MTHFR with F5 Leiden mutation leads to increased risk of developing thrombosis...
May 2015: Biomedit︠s︡inskai︠a︡ Khimii︠a︡
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"