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Report on the External Quality Assessment Scheme for Molecular Diagnostics in Korea (2017)

Kim MJ, Yoon MH, Song JY, Cho SI, Park SS, Seong MW

Quality control for genetic analysis has become more important with a drastic increase in testing volume and clinical demands. The molecular diagnostics division of the Korean Association of Quality Assurance...
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Comparison of Blueberry (Vaccinium spp.) and Vitamin C via Antioxidative and Epigenetic Effects in Human

Kim M, Na H, Kasai H, Kawai K, Li YS, Yang M

BACKGROUND: Chemopreventive effects and the underlying mechanisms of blueberry (Vaccinium spp.) are not clearly understood in human. We hypothesized blueberry would work via antioxidative and epigenetic modulation, which is similar...
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MTHFR 3′-untranslated region polymorphisms contribute to recurrent pregnancy loss risk and alterations in peripheral natural killer cell proportions

Kim ES, Kim JO, An HJ, Sakong JH, Lee HA, Kim JH, Ahn EH, Kim YR, Lee WS, Kim NK

OBJECTIVE: To identify the associations between polymorphisms of the 3′-untranslated region (UTR) of methylenetetrahydrofolate reductase (MTHFR) gene, which codes for an important regulatory enzyme primarily involved in folate metabolism, and...
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Hyper-homocysteinemia Inducing Hyperuricemia: What are the Mechanisms?

Cacciapuoti F

Hyperuricemia is related to metabolic syndrome, and is defined as an over-production or under-excretion of uric acid (UA), with increased UA serum concentration. Among other causes, Hyper-homocysteinemia (H-Hcy) can be...
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Methylenetetrahydrofolate Reductase Polymorphisms and Risk of Recurrent Pregnancy Loss: a Case-Control Study

Hwang KR, Choi YM, Kim JJ, Lee SK, Yang KM, Paik EC, Jeong HJ, Jun JK, Yoon SH, Hong MA

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...
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A Rare Case of Cerebral Sinovenous Thrombosis Associated with MTHFR A1298C and C677T Mutations

Kim SH, Lee NM, Chae SA

Neonatal cerebral sinovenous thrombosis (CSVT) is a rare disease with severe neurological sequelae. Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in the folate cycle, and mutations in MTHFR are associated...
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Intracardiac Thrombosis Involving All Four Cardiac Chambers after Extracardiac Membranous Oxygenation Associated with MTHFR Mutations

Kim BJ, Song SH, Shin YR, Park HK, Park YH, Shin HJ

A 4-month-old boy diagnosed with acute myocarditis was treated with extracorporeal membrane oxygenation (ECMO). Follow-up echocardiography eight hours after ECMO revealed intracardiac thrombosis involving all four heart chambers. Because of...
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Potential Risk Factors Associated With Vascular Diseases in Patients Receiving Treatment for Hypertension

Kim H, Park J, Chae H, Lee GD, Lee SY, Lee JM, Oh YS, Kim M, Kim Y

BACKGROUND: Currently, the hypertension (HTN) patients undergo appropriate medical treatment, and traditional risk factors are highly controlled. Therefore, potential risk factors of atherosclerotic vascular diseases (AVD) and venous thromboembolisms (VTE)...
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Role of Hyperhomocysteinemia and Methylene Tetrahydrofolate Reductase C677T Polymorphism in Idiopathic Portal Vein Thrombosis

Ghaznavi H, Soheili Z, Samiei S, Soltanpour MS

PURPOSE: Portal vein thrombosis (PVT) is a rare and life-threatening vascular disorder characterized by obstruction or narrowing of the portal vein. Hyperhomocysteinemia and methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism has been...
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Annual Report on the External Quality Assessment of Diagnostic Genetics in Korea (2015)

Kim HY, Park CH, Lee SJ, Cho SI, Seong MW, Park SS, Kim SH, Diagnostic Genetics Subcommittee, Korean Association of External Quality Assessment Service

The Diagnostic Genetics Subcommittee of Korean Association of External Quality Assessment Service conducted two trials in 2015 based on cytogenetics and molecular genetics surveys. A total of 43 laboratories participated...
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Annual Report on the External Quality Assessment Scheme for Diagnostic Genetics in Korea (2014)

Park CH, Shin SY, Park H, Cho SI, Seong MW, Park SS, Kim SH, Diagnostic Genetics Subcommittee, The Korean Association of External Quality Assessment Service

Quality control for genetic tests has become more important as testing volume and clinical demands have increased dramatically. The diagnostic genetics subcommittee of Korean Association of External Quality Assessment Service...
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Association of Methylenetetrahydrofolate Reductase C677T Polymorphism with Hyperhomocysteinemia and Deep Vein Thrombosis in the Iranian Population

Ghaznavi H, Soheili Z, Samiei S, Soltanpour MS

PURPOSE: Deep venous thrombosis (DVT) is a common but elusive condition characterized by a high morbidity and mortality rate. The aim of the present study was to investigate the correlation...
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Potential Inherited Causes of Recurrent Prosthetic Mitral Valve Thrombosis in a Pregnant Patient Suffering from Recurrent Miscarriage

Kalcik M, Gursoy MO, Karakoyun , Yesin M, Astarcioglu MA, Ozkan M

An effective anticoagulation is critical in pregnant patients with prosthetic heart valves. Inherited disorders may interfere with the coagulation cascade and may be associated with obstetrical complications as well as...
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Annual Report on the External Quality Assessment of Diagnostic Genetics in Korea (2013)

Jang MA, Shin SY, Park S, Seong MW, Park SS, Kim SH, Diagnostic Genetics Subcommittee, The Korean Association of Quality Assurance for Clinical Laboratory

  • KMID: 2200443
  • J Lab Med Qual Assur.
  • 2014 Jun;36(2):71-83.
Quality control for genetic tests has become more important as the test volume and clinical demands increase dramatically. The diagnostic genetics subcommittee of the Korean Association of Quality Assurance for...
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Methylenetetrahydrofolate Reductase 677 Genotype-Specific Reference Values for Plasma Homocysteine and Serum Folate Concentrations in Korean Population Aged 45 to 74 Years: The Namwon Study

Kweon SS, Lee YH, Jeong SK, Nam HS, Park KS, Choi SW, Kim BH, Kim HN, Choi JS, Shin MH

The reference interval for plasma total homocysteine (tHcy) and serum folate concentrations were estimated. Total of 3,154 reference individuals (1,029 men and 2,125 women) were selected based on stringent exclusion...
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Clinical Characteristics of Colorectal Cancer Patients With a Second Primary Cancer

Lee JW, Kim JW, Kim NK

PURPOSE: The incidence of colorectal cancer is increasing due to a westernized dietary lifestyle, and improvements in treatment and diagnostic tools have resulted in more patients being confirmed of having...
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Clinical Implications of Methylenetetrahydrofolate Reductase Mutations and Plasma Homocysteine Levels in Patients with Thromboembolic Occlusion

Park WC, Chang JH

PURPOSE: Hyperhomocysteinemia has been identified as an independent risk factor in arterial and venous thrombosis. Mutations in genes encoding methylenetetrahydrofolate reductase (MTHFR), involved in the metabolism of homocysteine, may account...
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Small Bowel Infarction by Mesenteric Venous Thrombosis due to Methylenetetrahydrofolate Reductase Gene Mutation

Park IY, Do BJ, Ahn JS, Lee JH, Park JH, Kang JG, Yang BK, Kim HS

Acute mesenteric venous thrombosis (MVT) is an uncommon form of intestinal ischemia with high mortality and usually occurs in the setting of preexisting comorbidities including thrombophilia and abdominal inflammatory conditions....
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Prevalence of thromogenic gene mutations in women with recurrent miscarriage: A retrospective study of 1,507 patients

Incebiyik , Hilali NG, Camuzcuoglu A, Camuzcuoglu H, Akbas H, Kilic A, Vural M

OBJECTIVE: Thromogenic gene mutations has been thought to be associated with recurrent pregnancy loss in women in Turkey. The aim of this study was to investigate the prevalence of thromogenic...
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Hyperhomocysteinemia and Neurologic Disorders: a Review

Ansari R, Mahta A, Mallack E, Luo JJ

Homocysteine (Hcy) is a sulfur-containing amino acid that is generated during methionine metabolism. It has a physiologic role in DNA metabolism via methylation, a process governed by the presentation of...
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