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Clinical features of severe ADAMTS13 deficienct- thrombotic thrombocytopenic purpura
( Doyeun Oh ),( In-ho Kim ),( Soo-mee Bang ),( Chul-won Jung ),( Jong-wook Lee ),( Hong Ghi Lee ) 대한내과학회 2015 대한내과학회 추계학술발표논문집 Vol.2015 No.1
Background: Diagnostic and prognostic value of ADAMTS13 activity is controversial. We previously reported the characteristics of severe ADAMTS13 deficiency in thrombotic thrombocytopenic purpura (TTP) and patients with severe ADAMTS13 deficiency (Jang MJ et al, Int J Hematol 2011; 93: 163-9). In this report, we enrolled 95 additional patients from January 2009 to June 2014 and analyzed 161 TTPpatients using same methods. Methods: One-hundred sixty nine patients with TTP from January 2005 to June 2014 were analyzed. ADAMTS13 activity and inhibitors were measured by immunoblotting of degraded von Willebrand factor. Clinical information was retrospectively collected and analyzed. Results: Patients with severe ADAMTS13 deficiency at presentation had lower serum creatinine levels (p<0.0001), lower platelet counts (p<0.0001), and higher total bilirubin levels (p=0.0001) than patients with non-severe ADAMTS13 deficiency. Treatment outcomes did not differ significantly between two groups in response, remission, and mortality rate. After adjusting for clinical and laboratory features, multivariate analysis revealed age over 60 year old is an independent risk factor for TTP-associated mortality (p=0.0249). Conclusions: TTP with severe ADAMTS13 deficiency is a unique subgroup characterized by lower platelet count and relatively good renal function. The severity of ADAMTS13 deficiency at presentation does not have prognostic significance.
Jisu Oh,Doyeun Oh,Seon Ju Lee,Jeong Oh Kim,김남근,So Young Chong,Ji Young Huh,Ross I. Baker 대한혈액학회 2019 Blood Research Vol.54 No.3
BackgroundAtypical hemolytic uremic syndrome (aHUS) involves dysregulation of the complement system, but whether this also occurs in thrombotic thrombocytopenic purpura (TTP) re-mains unclear. Although these conditions are difficult to differentiate clinically, TTP can be distinguished by low (<10%) ADAMTS13 activity. The aim was to identify the differ-ences in complement activation products between TTP and aHUS and investigate ADAMTS13 activity as a prognostic factor in aHUS.MethodsWe analyzed patients with thrombotic microangiopathy diagnosed as TTP (N=48) or aHUS (N=50), selected from a Korean registry (N=551). Complement activation prod-ucts in the plasma samples collected from the patients prior to treatment and in 40 healthy controls were measured by ELISA.ResultsThe levels of generalized (C3a), alternate (factor Bb), and terminal (C5a and C5b-9) mark-ers were significantly higher (all P<0.01) in the patients than in the healthy controls. Only the factor Bb levels significantly differed (P=0.008) between the two disease groups. In aHUS patients, high normal ADAMTS13 activity (≥77%) was associated with improved treatment response (OR, 6.769; 95% CI, 1.605‒28.542; P=0.005), remission (OR, 6.000; 95% CI, 1.693‒21.262; P=0.004), exacerbation (OR, 0.242; 95% CI, 0.064‒0.916; P=0.031), and disease-associated mortality rates (OR, 0.155; 95% CI, 0.029‒0.813; P=0.017).ConclusionThese data suggest that complement biomarkers, except factor Bb, are similarly activated in TTP and aHUS patients, and ADAMTS13 activity can predict the treatment response and outcome in aHUS patients.
Jung Oh Kim,Jinkun Bae,Jinkwon Kim,오승헌,Hui Jeong An,In Bo Han,Doyeun Oh,Ok Joon Kim,김남근 대한뇌졸중학회 2018 Journal of stroke Vol.20 No.1
Background and Purpose MicroRNA (miRNA) expression has been examined in multiple conditions, including various cancers, neurological diseases, and cerebrovascular diseases, particularly stroke. Existing evidence indicates that miRNA biosynthesis and function play crucial roles in ischemic stroke physiology and pathology. In this study, we selected six known polymorphisms in miRNAbiogenesis genes; DICER rs13078A>T, rs3742330A>G; DROSHA rs10719T>C, rs6877842G>C; Ran GTPase (RAN) rs14035C>T; exportin 5 (XPO5) rs11077A>C. Methods We analyzed the associations between these polymorphisms and disease status and clinical factors in 585 ischemic stroke patients and 403 controls. Genotyping was performed with the polymerase chain reaction-restriction fragment length polymorphism method. Results The DICER rs3742330A>G (AA vs. AG+GG: adjusted odds ratio [AOR], 1.360; 95% confidence interval [CI], 1.024 to 1.807; P=0.034) and DROSHA rs10719T>C polymorphisms (TT vs.CC: AOR, 2.038; 95% CI, 1.113 to 3.730; P=0.021) were associated with ischemic stroke prevalence. During a mean follow-up of 4.80±2.11 years, 99 (5.91%) of the stroke patients died. In multivariate Cox proportional hazard regression models, a significant association was found between RAN rs14035 and survival of large artery disease patients with ischemic stroke (CC vs. TT: adjusted hazard ratio, 5.978; P=0.015). Conclusions An association was identified between the DICER and DROSHA polymorphisms and ischemic stroke. Specifically, polymorphisms (rs3742330 and rs10719) were more common in stroke patients, suggesting that they may be associated with an increased risk of ischemic stroke.
Kim, Ok Joon,Kim, Un-Kyung,Oh, Seung Hun,Cho, Yong Wook,Oh, Kyung Im,Oh, Doyeun,Park, Young Seok,Kim, Nam Keun D. A. Spandidos 2010 MOLECULAR MEDICINE REPORTS Vol.3 No.3
<P>Polymorphisms of the endothelial nitric oxide synthase (eNOS) gene have been implicated in various diseases associated with cardiovascular risk factors, but little is known regarding the risks of ischemic stroke (IS) in patients with diabetes mellitus (DM). In this study, we evaluated the genotypes and haplotypes of three eNOS polymorphisms (-786T>C, 4a4b and 894G>T) in a Korean population of 223 IS patients and 206 controls classified into four groups: healthy subjects, type 2 DM patients without IS, IS patients without type 2 DM and IS patients with type 2 DM. The genotype frequency of 4a4b in the controls with type 2 DM differed significantly from that in the controls without DM (4b4b vs. 4a4b; OR=2.769; 95% CI 1.233-6.220) and the frequency of the -786C-4a-894G haplotype was higher in the controls with DM compared to the controls without DM (P=0.040). Additionally, the -786C-4b-894G haplotype was more common in the cases with DM than in the controls without type 2 DM (P=0.034). Our findings suggest that the eNOS 4a allele-associated genotype and haplotype is a risk factor for type 2 DM, and that the -786C-4b-894G haplotype is a risk factor for IS with DM.</P>
Genetic Polymorphism of Thymidylate Synthase Enhancer Region (TSER) in Korean
( Jin Kyoung Kim ),( Doyeun Oh ),( Sung Hoon Cho ),( Ok Jun Kim ),( Yun Kyung Cho ),( Sun Hee Kim ),( You Jung Kang ),( Jung Yong Ahn ),( Seong Gyu Hwang ),( Kwang Yul Cha ),( Nam Keun Kim ) 한국유전학회 2003 Genes & Genomics Vol.25 No.4
Methylenetetrahydrofolate Reductase Gene Polymorphisms in Patients with Down Syndrome
Kim, Nam Keun,Han, Jin Hee,Oh, Doyeun,Hwang, Seong Gyu,Chae, Kyu Young,Kim, Hyo Jin,Kim, Sehyun,Hwang, Tae Sun,Jeung, Mingull 한국유전학회 2004 Genes & Genomics Vol.26 No.4
We analyzed C677T and A1298C polymorphisms of methylenetetrahydrofolate reductase (MTHFR) by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 33 patients with Down syndrome and 100 healthy control subjects in order to understand the association between mutations of genes involved in folate metabolism and increased risk of being a child with Down syndrome. The association is still unresolved because of contradictory findings of various studies. In the patients with Down syndrome, the 677CC genotype frequency was 27.3%, 677CT 66.7%, and 677TT 6.1%. In the control group, the 677CC genotype frequency was 24.0%, 677CT 55.0%, and 677TT 21.0%. The frequency of 677TT homozygote in the patient group was 6.1% as compared to 21.0% in the control group. The homozygote showed an odds ratio of 0.14 (95% CI: 0.02-0.95; P = 0.04). In the patients with Down syndrome, the 1298AA genotype was found in 50.0%, the 1298AC in 46.9%, and the 1298CC in 3.1%. In the control, the 1298AA genotype frequency was estimated at 77.0%, the 1298AC at 21.0%, and the 1298CC at 2.0%. The frequency of 1298AC heterozygote was 46.9% in the patients whereas it was 21.0% in the control. The heterozygote showed an odds ratio of 3.3 (95% CI: 1.39-7.82; P= 0.007). Thus, an high prevalence of the MTHFR 677TT genotype in controls or a quite high frequency of the 1298AC genotype in the patients may provide an evidence for the presence of a differential survival advantage.