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https://www.readbyqxmd.com/read/29299826/differentiation-of-antemortem-pulmonary-thromboembolism-and-postmortem-clot-with-unenhanced-mri-a-case-report
#1
Ingo von Both, Silvio Giancarlo Bruni, Jayantha C Herath
We report a case of a 39-year-old woman who died of fulminant pulmonary thromboembolism (PE). Autopsy showed classical findings of fulminant PE with occlusion of the bilateral main stem pulmonary arteries. Ancillary testing revealed inherited thrombophilia (Prothrombin 20,210 G > A and MTHFR 677 C > T mutation). Pre-autopsy postmortem computed tomography was used to test whether virtual imaging studies alone (virtual autopsy) would be sufficient to detect PE. Our studies show that computed tomography (CT) can differentiate antemortem clots from a postmortem clot in certain cases, particularly when combined with magnetic resonance imaging (MRI), which is superior in the assessment of soft tissue...
January 4, 2018: Forensic Science, Medicine, and Pathology
https://www.readbyqxmd.com/read/29246599/manifestations-of-neurological-symptoms-and-thromboembolism-in-adults-with-mthfr-deficiency
#2
Paulus S Rommer, Johannes Zschocke, Brian Fowler, Manuela Födinger, Vassiliki Konstantopoulou, Dorothea Möslinger, Elisabeth Stögmann, Erhard Suess, Matthias Baumgartner, Eduard Auff, Gere Sunder-Plassmann
BACKGROUND: Methylenetetrahydrofolate-reductase (MTHFR) deficiency is a rare autosomal recessive disorder affecting intracellular folate metabolism with affection of different organ systems and clinical manifestation usually in childhood. OBJECTIVE: We report on four adult members of a family with MTHFR deficiency presenting with neurological and thromboembolic complications in adulthood. METHODS: Extensive diagnostic work-up including genetic testing was performed in four adult members...
December 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29245302/mthfr-c677t-gene-polymorphism-and-the-severity-of-coronary-lesions-in-acute-coronary-syndrome
#3
Miao-Nan Li, Hong-Ju Wang, Ning-Ru Zhang, Ling Xuan, Xiao-Jun Shi, Tong Zhou, Bin Chen, Jun Zhang, Hui Li
The association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism, circulating levels of homocysteine (Hcy), and the severity of coronary lesion in patients with acute coronary syndrome (ACS) remains unknown.Consecutive ACS patients were included. MTHFR C677T polymorphisms were determined via amplification refractory mutation system-polymerase chain reaction (ARMS-PCR). Gensini scores were used to evaluate the severity of coronary lesions.Three hundred ten ACS patients were included, and grouped according to the MTHFR C677T polymorphism variant: CC (n = 78, 25...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29226645/thrombophilic-mutations-among-patients-with-sickle-cell-disease
#4
Rim B Nefissi, Faida Ouali, Taieb Massaoud, Nasreddine Gritli
BACKGROUND: Factor V-Leiden (FVL), Prothrombin (PRT) G20210A, and Methylene Tetrahydro Folate Reductase (MTHFR) C677T and A1298C mutations are major inherited risk factors of thrombotic complications. Our aim in this study was to investigate the prevalence of these mutations among Tunisian sickle cell patients. METHODS: Study subjects comprised 64 patients and 100 healthy controls. FVL, PRT G20210A, and MTHFR genotypes were determined using a reverse dot blot based method...
November 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/29218949/-study-on-relationship-between-constitution-and-syndrome-of-mmp-9-il-6-and-mthfr-gene-in-patients-with-ischemic-stroke
#5
Shuai-Ling Sun, Yan-Ming Xie, Yin Zhang, Zhi-Fei Wang, Jing Yang, Dan-Qiao Wang, Yue Jiao, Jun Chen, Yan-Hui Tao
By studying the relationship between syndromes, physique and MMP-9, IL-6 and MTHFR gene polymorphisms in patients with ischemic stroke,The relationship between MMP-9, IL-6 and MTHFR gene polymorphism was analyzed in patients with ischemic stroke.The data were collected by collecting the data of patients with ischemic stroke, and the statistical analysis was carried out. Syndrome:61 cases of ischemic stroke patients with stroke phlegm stasis syndrome in patients with the highest frequency, a total of 30 cases; Physical constitution: phlegm is ischemic stroke patients prone to physical, a total of 20 cases; The analysis of the relationship between constitution and syndrome shows that the patients with qi deficiency constitution tend to show qi deficiency and blood stasis syndrome after onset, The analysis of the relationship between constitution and syndrome shows that the patients with qi deficiency constitution tend to show qi deficiency and blood stasis syndrome after onset, Phlegm constitution and physical condition after the onset of symptoms tend to wind phlegm stasis syndrome; Syndrome and MMP-9, IL-6 relationship:The distribution of MMP-9 and IL-6 in patients with qi and phlegm stasis syndrome and qi deficiency and blood stasis syndrome was significantly different from that in Z test (P<0...
September 2017: Zhongguo Zhong Yao za Zhi, Zhongguo Zhongyao Zazhi, China Journal of Chinese Materia Medica
https://www.readbyqxmd.com/read/29212064/mthfr-a1298c-and-c677t-polymorphisms-are-associated-with-increased-risk-of-venous-thromboembolism-a-retrospective-chart-review-study
#6
Fang Liu, Danuzia Silva, Mariuxi Viteri Malone, Kala Seetharaman
BACKGROUND: Methylene tetrahydrofolate reductase (MTHFR) is a key enzyme in homocysteine metabolism. This study aims to determine the impact of MTHFR polymorphisms on plasma homocysteine levels and risks of venous thromboembolism (VTE). METHODS: This retrospective chart review study included a total of 188 subjects who were tested for MTHFR polymorphisms at Metrowest Coagulation Laboratory between April 2011 and April 2016. Two independent coders were trained to extract relevant clinical data for statistical analysis...
December 7, 2017: Acta Haematologica
https://www.readbyqxmd.com/read/29185200/the-mthfr-polymorphism-affect-the-susceptibility-of-hcc-and-the-prognosis-of-hcc-liver-transplantation
#7
C Wang, H Xie, D Lu, Q Ling, P Jin, H Li, R Zhuang, X Xu, S Zheng
BACKGROUND: Methylenetetrahyfrofolate reductase (MTHFR) is the key enzyme for one carbon and folate metabolism. Previous studies have drawn different conclusions about the relationship between the mutation of MTHFR and hepatocellular carcinoma (HCC) occurrence. MTHFR polymorphisms' influence on liver transplantation for HCC recurrence has yet not been reported. Aim of this study was to clarify the impact of MTHFR polymorphism on hepatocarcinogenesis and the prognosis of liver transplant recipient with HCC...
November 28, 2017: Clinical & Translational Oncology
https://www.readbyqxmd.com/read/29115087/methylenetetrahydrofolate-reductase-polymorphisms-and-risk-of-recurrent-pregnancy-loss-a-case-control-study
#8
Kyu Ri Hwang, Young Min Choi, Jin Ju Kim, Sung Ki Lee, Kwang Moon Yang, Eun Chan Paik, Hyeon Jeong Jeong, Jong Kwan Jun, Sang Ho Yoon, Min A Hong
The balance between coagulation and fibrinolysis is an essential part in early pregnancy. Mutations in methylenetetrahydrofolate reductase (MTHFR) gene lead to decreased activity of the enzyme and hyperhomocysteinemia, which then induces platelet aggregation by promoting endothelial oxidative damage, possibly resulting in adverse effect on maintenance of pregnancy. We investigated the role of MTHFR single nucleotide polymorphisms (SNPs), C677T and A1298C, in Korean patients with recurrent pregnancy loss (RPL)...
December 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/29094226/aminoacidopathies-prevalence-etiology-screening-and-treatment-options
#9
REVIEW
Muhammad Wasim, Fazli Rabbi Awan, Haq Nawaz Khan, Abdul Tawab, Mazhar Iqbal, Hina Ayesha
Inborn errors of metabolism (IEMs) are a group of inherited metabolic disorders which are caused by mutations in the specific genes that lead to impaired proteins or enzymes production. Different metabolic pathways are perturbed due to the deficiency or lack of enzymes. To date, more than 500 IEMs have been reported with most of them being untreatable. However, fortunately 91 such disorders are potentially treatable, if diagnosed at an earlier stage of life. IEMs have been classified into different categories and one class of IEMs, characterized by the physiological disturbances of amino acids is called as aminoacidopathies...
November 1, 2017: Biochemical Genetics
https://www.readbyqxmd.com/read/29093435/recurrent-thrombosis-a-case-of-hereditary-thromboembolism
#10
Maria Concetta Giofrè, Francesca Napoli, Daniela La Rosa, Alessia Caruso, Natascia Laganà, Lucia Orlando Settembrini, Antonino Saitta, Antonio Giovanni Versace
BACKGROUND Thrombophilia is a predisposition to thrombosis. Genetic causes include antithrombin III, protein C, protein S, factor V Leiden, prothrombin 20210A allele, and MTHFR mutations. Other genetic factors causing thrombosis and pulmonary embolism have been identified in recent studies, including 4G/4G polymorphism of the PAI-1 gene. CASE REPORT A patient with a personal and family history of recurrent thrombosis and pulmonary embolism was admitted to our Internal Medicine Department. After the most common acquired risk factors for thromboembolism were ruled out, the patient and her family members underwent genetic diagnostic testing...
November 2, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/29038711/study-of-the-c677t-and-1298ac-polymorphic-genotypes-of-mthfr-gene-in-autism-spectrum-disorder
#11
Farida El-Baz, Mohammed Abd El-Aal, Tarek Moustafa Kamal, Abdelrahim Abdrabou Sadek, Amr Ahmed Othman
BACKGROUND: Autism is currently known as "a behaviorally defined syndrome" manifested as impairment in social communication, repetitive routines and restricted interests. There is an increased risk of ASDs associated with common mutations affecting the folate/methylation cycle. AIM: The aim of this study was to identify C677T and 1298AC polymorphic genotypes of MTHFR gene among a sample of Egyptian children with autism and to make a phenotype-genotype correlation for the autistic patients...
September 2017: Electronic Physician
https://www.readbyqxmd.com/read/28985766/mutations-in-brca1-brca2-and-other-breast-and-ovarian-cancer-susceptibility-genes-in-central-and-south-american-populations
#12
REVIEW
Lilian Jara, Sebastian Morales, Tomas de Mayo, Patricio Gonzalez-Hormazabal, Valentina Carrasco, Raul Godoy
Breast cancer (BC) is the most common malignancy among women worldwide. A major advance in the understanding of the genetic etiology of BC was the discovery of BRCA1 and BRCA2 (BRCA1/2) genes, which are considered high-penetrance BC genes. In non-carriers of BRCA1/2 mutations, disease susceptibility may be explained of a small number of mutations in BRCA1/2 and a much higher proportion of mutations in ethnicity-specific moderate- and/or low-penetrance genes. In Central and South American populations, studied have focused on analyzing the distribution and prevalence of BRCA1/2 mutations and other susceptibility genes that are scarce in Latin America as compared to North America, Europe, Australia, and Israel...
October 6, 2017: Biological Research
https://www.readbyqxmd.com/read/28976125/in-human-alleles-specific-variation-of-mthfr-c677t-and-a1298c-associated-risk-factor-for-the-development-of-ovarian-cancer
#13
Anupama Singh, S Pandey, L K Pandey, Ajit K Saxena
Etiopathology of tumor biology is highly complex and ovarian cancer is one of the important gynaecological neoplasia associated with <b>high risk<b> of mortality rate. Methlenetetrahydrofolate reductase (MTHFR) mutation are commonly linked to folate metabolism with increased risk factor for the development of neural tube defects, recurrent pregnancy loss and development of several type of cancer but genetic interaction between two alleles of MTHFR has been poorly defined in ovarian cancer in India...
September 2017: Journal of Experimental Therapeutics & Oncology
https://www.readbyqxmd.com/read/28943344/polymorphisms-of-the-folate-metabolizing-enzymes-association-with-sle-susceptibility-and-in-silico-analysis
#14
Saeedeh Salimi, Farshid Keshavarzi, Abbas Mohammadpour-Gharehbagh, Mahdieh Moodi, Mahdieh Mousavi, Mohammad Karimian, Mahnaz Sandoughi
Systemic lupus erythematosus (SLE) is a typical autoimmune disorder with multiple organ involvement and unknown etiology. It has been shown that polymorphic variants of the genes encoding key enzymes of folate and methionine metabolism may influence DNA methylation. Genomic DNA was extracted from blood samples of 150 SLE patients and 160 controls, matching age, sex, and ethnicity. MTHFR rs1801133C>T and MTR rs1805087A>G polymorphisms were genotyped by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method...
September 21, 2017: Gene
https://www.readbyqxmd.com/read/28936998/venous-thromboembolism-due-to-hyperhomocysteinaemia-and-tuberculosis
#15
Ankush Chaudhary, Unnati Desai, Jyotsna M Joshi
An 18-year-old male presented to our hospital with complaints of episodic abdominal pain, dry cough and right pleuritic chest pain. He was diagnosed as a case of right tuberculous pleural effusion on the basis of the pleural fluid Genexpert report of Mycobacterium tuberculosis detected sensitive to rifampicin and was started on antituberculous therapy. Forty-five days later, he presented with acute onset breathlessness, swelling of the right leg, streaky haemoptysis and a fresh left-sided pleural effusion. Evaluation revealed venous thromboembolism (right lower lobar segment pulmonary embolism with right leg deep vein thrombosis)...
May 2017: National Medical Journal of India
https://www.readbyqxmd.com/read/28924877/diagnostic-approach-to-neurotransmitter-monoamine-disorders-experience-from-clinical-biochemical-and-genetic-profiles
#16
Alice Kuster, Jean-Baptiste Arnoux, Magalie Barth, Delphine Lamireau, Nada Houcinat, Cyril Goizet, Bérénice Doray, Stéphanie Gobin, Manuel Schiff, Aline Cano, Daniel Amsallem, Christine Barnerias, Boris Chaumette, Marion Plaze, Abdelhamid Slama, Christine Ioos, Isabelle Desguerre, Anne-Sophie Lebre, Pascale de Lonlay, Laurence Christa
BACKGROUND AND AIM: To improve the diagnostic work-up of patients with diverse neurological diseases, we have elaborated specific clinical and CSF neurotransmitter patterns. METHODS: Neurotransmitter determinations in CSF from 1200 patients revealed abnormal values in 228 (19%) cases. In 54/228 (24%) patients, a final diagnosis was identified. RESULTS: We have reported primary (30/54, 56%) and secondary (24/54, 44%) monoamine neurotransmitter disorders...
September 18, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28889200/prevalence-of-common-hereditary-risk-factors-for-thrombophilia-in-somalia-and-identification-of-a-novel-gln544arg-mutation-in-coagulation-factor-v
#17
Abshir Ali Abdi, Abdimajid Osman
Thrombophilia, commonly manifested as venous thromboembolism (VTE), is a worldwide concern but little is known on its genetic epidemiology in many parts of the globe particularly in the developing countries. Here we employed TaqMan genotyping and pyrosequencing to evaluate the prevalence of known common nucleotide polymorphisms associated with thrombophilia in a Somali population in the Puntland region of Somalia. We also employed next generation sequencing (NGS) to investigate other genetic variants in a Somali patient with deep venous thrombosis (DVT)...
November 2017: Journal of Thrombosis and Thrombolysis
https://www.readbyqxmd.com/read/28862981/need-for-pharmacogenetic-studies-on-the-prevalence-of-mthfr-mutations-in-puerto-ricans-and-hispanics
#18
Raúl H Morales-Borges
Methylenetetrahydrofolate reductase (MTHFR) mutations have been linked to many diseases. Evidence has been provided to prove that we need to perform pharmacogenetic studies regarding the prevalence of MTHFR mutations and diseases, risks, and the impact on folate requirement in general, but little has been published about Puerto Ricans. A multi center cross-sectional retrospective review study or a prospective pharmacogenetic study of valid genotypes and phenotypes of MTHFR mutations within the different populations of Puerto Ricans and Hispanics are recommended, because differences within them and within the general population are expected...
September 26, 2017: Drug Metabolism and Personalized Therapy
https://www.readbyqxmd.com/read/28858863/association-of-plasminogen-activator-inhibitor-1-gene-polymorphisms-and-methylene-tetrahydrofolate-reductase-polymorphisms-with-spontaneous-miscarriages
#19
Petra Bubalo, Iva Buterin, Zrinko Šalek, Vesna Ðogić, Silva Zupančić-Šalek
AIM: The objective of this study was to investigate a possible correlation between the plasminogen activator inhibitor-1 (PAI-1) and methylene tetrahydrofolate reductase (MTHFR) polymorphisms and unexplained spontaneous miscarriages (SM). MATERIALS AND METHODS: PAI-1 polymorphisms were evaluated in 150 women with pregnancy in their history. One hundred women with a history of SM formed the study group and 50 women with normal pregnancies served as the control group...
2017: Acta Haematologica
https://www.readbyqxmd.com/read/28847029/prevalence-of-the-mthfr-c677t-mutation-in-fertile-and-infertile-women
#20
Adriana de Góes Soligo, Ricardo Barini, Joyce Maria Annichino-Bizzacchi
Introduction The importance of the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene in infertile women remains controversial. Objective To evaluate if the MTHFR C677T mutations are more frequent in infertile women, and if they can be associated with the occurrence of infertility in the Brazilian population. Methods This case-control study included 130 infertile women consulting at a private clinic between March 2003 and March 2005 (data previously published), and 260 fertile women attending the family planning outpatient clinic of our institution between April 2012 and March 2013...
August 28, 2017: Revista Brasileira de Ginecologia e Obstetrícia
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