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Korean Patients (korean + patient)
Selected AbstractsORIGINAL ARTICLE: Transforming Growth Factor-Beta1 Gene Polymorphisms in Korean Patients with Pre-eclampsiaAMERICAN JOURNAL OF REPRODUCTIVE IMMUNOLOGY, Issue 4 2010Shin Young Kim Citation Kim SY, Lim JH, Park SY, Yang JH, Kim MY, Kim MH, Ryu HM. Transforming growth factor-beta1 (TGF-,1) gene polymorphisms in Korean patients with pre-eclampsia. Am J Reprod Immunol 2010; 63: 291,298 Problem, The aim of this study was to investigate whether c.869T>C (Leu10Pro) and c.915G>C (Arg25Pro) polymorphisms in exon1 of the transforming growth factor-beta1 (TGF-,1) gene are associated with development of pre-eclampsia (PE) in Korean women. Method of study, We analyzed blood samples from 164 patients with PE and 182 healthy pregnant women using the polymerase chain reaction and DNA sequencing. Results, The frequencies of the 869CC and combined TC/CC genotypes were higher in patients with PE than in healthy controls. In the PE with intrauterine growth restriction (IUGR), the frequencies of these genotypes were also higher than that in controls. Furthermore, the 869C allele frequency was significantly higher in both PE and IUGR-complicated PE than in controls. Multivariate analysis showed that the 869TC, CC, and combined TC/CC genotypes were associated with an increased risk of PE compared with the 869TT genotype. In addition, the 869TC, CC, and combined TC/CC genotypes were significantly associated with an increased risk of IUGR-complicated PE compared with the 869TT genotype. The TGF-,1 c.915G>C polymorphism was not detected in our population. Conclusion, Our findings indicate that the TGF-,1 c.869T>C polymorphism may be a genetic risk factor for PE and IUGR-complicated PE. [source] Analysis of hepatitis B virus quasispecies distribution in a Korean chronic patient based on the full genome sequences,JOURNAL OF MEDICAL VIROLOGY, Issue 3 2007Hong Kim Abstract Although Korea is a hepatitis B virus (HBV) endemic area, relatively few full-length genome sequences are available. In particular, no comparative analysis has been performed on the full-genome sequences of different HBV quasispecies from a single Korean patient. This report describes the full-length sequences of five HBV clones (two clones with shorter PCR amplicons and three clones with longer amplicons). Large deletions, that is, 685-bp, 487-bp, and 144-bp, that might interfere with the production of normal proteins were observed in four of five clones. Double mutations in the basal core promoter (BCP) region (T1762/A1764) were detected in two clones but no precore mutations (A1896) were detected in any of the five clones. These data support previous results that genotype C, in particular Korean clones of this genotype, is prone to mutations. Two independent mechanisms, namely, the deletions of long lengths and amino acid substitutions followed by BCP double mutations might contribute to the diversity of HBV quasispecies. Considering the importance of HBV quasispecies as HBV variant sources, the distribution of HBV quasispecies in mutation prone genotype C prevalent areas like Korea, should be monitored to improve the management of chronic HBV infections and to control HBV variants that arise due to the administration of vaccine or antiviral therapy. J. Med. Virol. 79:212,219, 2007. © 2007 Wiley-Liss, Inc. [source] Novel SGCE gene mutation in a Korean patient with myoclonus,dystonia with unique phenotype mimicking Moya,Moya diseaseMOVEMENT DISORDERS, Issue 8 2007Eun Joo Chung MD [source] Keratin 17 mutation in pachyonychia congenita type 2 patient with early onset steatocystoma multiplex and Hutchinson-like tooth deformityTHE JOURNAL OF DERMATOLOGY, Issue 3 2006Se-Woong OH ABSTRACT Pachyonychia congenita type 2 (PC-2) is an autosomal dominant disorder characterized by hypertrophic nail dystrophy, focal keratoderma, multiple pilosebaceous cysts, and other features of ectodermal dysplasia. It has been demonstrated that PC-2 is caused by mutations in the keratin 17 and keratin 6b genes. In this report, we describe a missense mutation in the keratin 17 gene, M88T, in a Korean patient whose phenotype included early onset steatocystoma multiplex and Hutchinson-like tooth deformities along with other typical features of PC-2 such as hypertrophic nails, natal teeth and follicular hyperkeratosis. [source] Hepatitis B e antigen seroconversion after lamivudine therapy is not durable in patients with chronic hepatitis B in KoreaHEPATOLOGY, Issue 4 2000Byung-Cheol Song It has been suggested that hepatitis B e antigen (HBeAg) seroconversion after lamivudine therapy is durable in Caucasians with chronic hepatitis B (CHB). However, little is known whether it is also durable in endemic areas of hepatitis B virus (HBV) infection. We evaluated the posttreatment durability of lamivudine-induced HBeAg seroconversion and the predictive factors for relapse in Korean patients with CHB. We retrospectively analyzed 98 HBeAg-positive patients with CHB who were treated with lamivudine between August 1996 and December 1997. Lamivudine was given at a dose of 150 mg per day. After HBeAg seroconversion, lamivudine was continued for an additional 2 to 4 months, and posttreatment monitoring continued for up to 24 months. HBeAg seroconversion was achieved in 34 of the 98 patients (34.7%). The mean duration of treatment in these seroconverters was 9.3 ± 3.0 months. During the follow-up period, the cumulative relapse rates at 1 year and 2 years posttreatment were 37.5% and 49.2%, respectively. Most relapses were accompanied by elevation of serum alanine transaminase (94%) and reappearance of HBeAg (81%). Pretreatment serum HBV DNA levels and the duration of additional lamivudine therapy after HBeAg seroconversion were 2 independent predictive factors for posttreatment relapse. In conclusion, lamivudine-induced HBeAg seroconversion was not durable in this endemic area. And the duration of additional lamivudine therapy after HBeAg seroconversion significantly affected the posttreatment relapse. Further studies are needed to determine the duration of lamivudine and to elucidate the cause of high relapse after HBeAg seroconversion in endemic areas of HBV. [source] BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancer,,HUMAN MUTATION, Issue 4 2004Jae Hong Seo Abstract In order to evaluate the role of BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancer, 97 patients with sporadic breast cancer were analyzed for mutations in the BRCA1 and BRCA2 coding regions, by using a combination of fluorescent-conformation sensitive gel electrophoresis (F-CSGE) and direct sequencing. Fifty-five distinct sequence variants were detected, which included three pathogenic truncating mutations, 15 missense mutations, 16 polymorphisms, and 21 intronic variants. Twenty-six of these variants have never been previously reported and may be of Korean-specific origin. Two pathogenic BRCA1 mutations (c.922_924delinsT, c.5445G>A) and one pathogenic BRCA2 mutation (c.2259delT) were observed, and two of these (BRCA1 c.5445G>A and BRCA2 c.2259delT) are novel. The total prevalence of germline pathogenic mutations in BRCA1 and/or BRCA2 in Korean sporadic breast cancer is estimated to be about 3.1%. Considering that the majority of breast cancer cases are sporadic, the present study will be helpful in the evaluation of the need for the genetic screening of germline BRCA mutations in sporadic breast cancer patients. Further study using a larger sample size is required to determine the merits of genetic diagnosis and counseling in breast cancer patients. © 2004 Wiley-Liss, Inc. [source] Effectiveness and tolerability of paroxetine controlled release (CR) in the treatment of major depressive disorder: an open-label, prospective, multi-center trial in KoreaHUMAN PSYCHOPHARMACOLOGY: CLINICAL AND EXPERIMENTAL, Issue 6 2007Chi-Un Pae Abstract Objectives This study evaluated the effectiveness and tolerability of paroxetine controlled release (CR) for the treatment of Korean patients with major depressive disorder (MDD) in a naturalistic treatment setting. Methods One hundred and ninety patients with MDD were enrolled in this study. The Hamilton Depression Rating Scale-17 item (HAMD-17) and Clinical Global Impression-Severity (CGI-S) scores were measured at the baseline (day 0) and at weeks 1, 2, 4, and 8 (endpoint). The primary measure of effectiveness was a change in the mean HAMD-17 scores from the baseline to the endpoint. The secondary effectiveness measures included a decrease in the HAMD-17 scores of 50% or more at the endpoint compared with the baseline and a change in the mean CGI-S scores from the baseline to the endpoint. Remission was defined as a HAMD-17 score,,,7 at the endpoint. Results The HAMD-17 scores decreased by 56.5% (observed difference, OD,=,,13.3) (t,=,26.63, p,<,0.0001) from the baseline. The CGI-S scores also decreased by 50.0% (OD,=,,2.3) (t,=,24.47, p,<,0.0001). The response and remission rate at the endpoint was 64.2 and 48.4%, respectively. The adverse events were tolerable. No unexpected or serious side effects were observed. Conclusions Despite the methodological limitations, this study demonstrated that paroxetine CR is effective and tolerable for treating patients with MDD in an East Asian population. Copyright © 2007 John Wiley & Sons, Ltd. [source] Contribution of IL23R but not ATG16L1 to Crohn's disease susceptibility in KoreansINFLAMMATORY BOWEL DISEASES, Issue 9 2009Suk-Kyun Yang MD Abstract Background: Recent genome-wide association studies in Caucasian populations identified IL23R and ATG16L1 as susceptibility genes to Crohn's disease (CD). We tested 5 IL23R single nucleotide polymorphisms (SNPs) and 12 ATG16L1 SNPs in Korean patients to determine whether these genes are associated with susceptibility to CD in a non-Caucasian population. Methods: We analyzed 5 IL23R SNPs and 12 ATG16L1 SNPs in 380 patients with CD and 380 healthy controls. Results: Two IL23R gene variants, an intronic SNP rs1004819 and intergenic SNP rs1495465, showed significant associations with CD; the adjusted odds ratio (aOR) for rs1004819 was 1.822 (95% confidence interval [CI] = 1.164,2.852, P = 0.009) and aOR for rs1495965 was 1.650 (95% CI = 1.102,2.471, P = 0.015). The genotype,phenotype analysis showed subphenotype specificity to stricturing and penetrating behaviors. On the other hand, none of the 12 ATG16L1 SNPs showed any positive association with CD in Koreans. The contribution of IL23R variants in Korean CD patients overall is low in comparison with studies of Caucasian. Conclusions: Our data in Koreans support the previous Caucasian reports of an association of the IL23R gene with CD. (Inflamm Bowel Dis 2009) [source] A randomised controlled trial of the effects of cryotherapy on pain, eyelid oedema and facial ecchymosis after craniotomyJOURNAL OF CLINICAL NURSING, Issue 21 2009Yong Soon Shin Aim., To identify the effects of cryotherapy on patient discomfort following craniotomy. Background., Following craniotomy, many patients suffer from unexpected discomfort, including pain, eyelid oedema and ecchymosis. Cryotherapy is regarded as a safe method for managing these postcraniotomy problems. Design., Randomised controlled trial. Methods., A total of 97 Korean patients who underwent elective supratentorial craniotomy were randomly assigned to a cryotherapy or a control group. In the cryotherapy group, ice bags were applied to surgical wounds, and cold gel packs were applied to periorbital areas, for 20 minutes per hour, beginning three hours postoperatively and for three days thereafter. The level of patient pain was measured using the visual analogue scale while the eyelid oedema was measured using the Kara & Gokalan's scale. Ecchymosis was also classified according to its extent. Results., The level of pain three hours after craniotomy was similar in the cryotherapy and control groups (57·9 vs. 58·7). Three days after surgery, pain had significantly decreased in the cryotherapy group (p = 0·021). After adjusting diagnosis by analysis of covariance (ancova), pain score did not differ significantly between the two groups. The mean eyelid oedema scores were lower in the cryotherapy group than in the control group (0·59 vs. 2·29, p < 0·001), with ancova showing that cryotherapy had a significant effect on eyelid oedema (p < 0·001). Pain (p = 0·047) and eyelid oedema (p < 0·001) in the cryotherapy group were significantly decreased over time. Ecchymosis were significantly less frequent in the cryotherapy (11/48, 22·9%) than in the control (26/49, 53·1%) group (p = 0·003). Logistic regression analysis showed that cryotherapy affected ecchymosis (p = 0·001). Conclusion., These results indicate that cryotherapy can control pain, eyelid oedema and facial ecchymosis after craniotomy. Relevance to clinical practice., Cryotherapy, which is both convenient and cost-effective, can be used to prevent postoperative discomforts in a clinical setting. [source] Low-dose intravenous pantoprazole for optimal inhibition of gastric acid in Korean patientsJOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, Issue 9 2007Jung-Hwan Oh Abstract Background and Aim:, Proton-pump inhibitor (PPI) therapy for bleeding ulcers is more efficacious in Asian patients than in non-Asian patients. The aim of this study was to evaluate the efficacy of various doses of pantoprazole on intragastric acidity in Korean patients. Methods:, A prospective randomized study was conducted in 52 patients either with bleeding peptic ulcers after successful endotherapy or who received endoscopic mucosal resection for gastric neoplasms. Patients were randomized into two doses of intravenous pantoprazole: 40 mg q.d. and 40 mg b.i.d. We compared these results with our preliminary study utilizing high-dose pantoprazole (80 mg + 8 mg/h). The potential contribution of CYP2C19 genetic polymorphisms and the presence of Helicobacter pylori were also assessed. Results:, Pantoprazole 40 mg b.i.d. and high-dose pantoprazole demonstrated better inhibition of intragastric acid than pantoprazole q.d. (P < 0.05). The pantoprazole 40 mg q.d. group exhibited significant variations in acid inhibition correlating with CYP2C19 genotype. Median 24 h pH values did not differ significantly between the pantoprazole b.i.d. and high-dose pantoprazole groups, regardless of H. pylori infection status. A median intragastric pH < 6.0 was observed in only three of 28 patients in the 40 mg b.i.d. group; these three patients were extensive metabolizers. Conclusion:, A 40 mg b.i.d. dose of pantoprazole is sufficient to maintain pH > 6.0 in Korean patients, except for patients with extensive metabolizing CYP2C19 genotypes. [source] Genetic and epigenetic alterations of the KLF6 gene in hepatocellular carcinomaJOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, Issue 8 2006Jaehwi Song Abstract Background and Aim:, Kruppel-like factor 6 (KLF6) is a zinc finger tumor suppressor gene that is frequently mutated in several human cancers and is broadly involved in differentiation and development, growth-related signal transduction, cell proliferation, apoptosis, and angiogenesis. The aim of this study was to elucidate the potential etiological role of KLF6 in the development of hepatocellular carcinoma (HCC) in Korea. Methods:, The gene mutation, allelic loss, and methylation status of the KLF6 gene was analyzed in a series of 85 Korean patients: 21 with dysplastic nodules and 85 with HCC. Results:, No somatic mutations were observed in the patients with dysplastic nodules or with HCC. Allelic loss was found in five (6.8%) of 73 informative HCC tissues. Three of the five patients with allelic loss had HCC with hepatitis B virus infection and cirrhosis, and the remaining two had no viral infection and a non-specific background. In methylation analysis, unmethylated and methylated DNAs of the KLF6 gene were amplified in all corresponding non-neoplastic liver tissues. Only one HCC tissue showed methylated DNA without unmethylated DNA. Conclusions:, The results suggest that genetic and epigenetic alteration of KLF6 may play a minor role in the development of HCC. [source] Molecular epidemiology of hepatitis A virus in Korea,JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, Issue 5 2001Kwan Soo Byun Abstract Background: The prevalence of antibodies for hepatitis A virus (anti-HAV) in adolescents and young adults has decreased remarkably following the economic growth in Korea. As a result, this age group has a high risk for HAV infection paradoxically, and over 1500 cases of clinically overt hepatitis A occurred in 1998. Human isolates of hepatitis A virus (HAV) are categorized within four genotypes (I, II, III, and VII). In some geographic regions, closely related isolates cluster, suggesting endemic spread of the virus, while in other regions multiple genotypes circulate. Virtually no data are available with regard to the genetic relatedness of Korean strains of HAV. Methods and Results: A 168 base pair segment encompassing the putative VP1/2A junction of the HAV genome was amplified by RT-PCR and sequenced in sera of 18 Korean patients with a sporadic form of acute hepatitis A. Pairwise comparisons of the nucleic acid and amino acid sequences of 18 Korean isolates with one another revealed that the Korean isolates showed > 94.6% and > 96.4% identity, respectively. All of the 18 Korean isolates clustered within genotype IA, irrespective of the geographic locations and the time that hepatitis occurred. Unique amino acid sequence changes that had never been reported in genotype IA were found in nine of the 18 isolates. These changes were Gln,Ser and Lys,Arg in 2A-19 and 2A-10 amino acid positions. Conclusion: The presence of single genotype and unique mutations may be related with the circulation of endemic HAV over a long period of time in Korea. [source] Molecular and clinical characteristics of hepatitis B virus in KoreaJOURNAL OF MEDICAL VIROLOGY, Issue 7 2010Sang Hoon Ahn Abstract Korea is an endemic area of hepatitis B virus (HBV) infection but very little is known about the molecular characteristics of HBV isolates from Korean patients or the association with disease progression. The complete HBV genome sequences from 53 Korean patients with chronic hepatitis B, advanced cirrhosis, or hepatocellular carcinoma (HCC) were analyzed to identify (i) subgenotype distribution and genetic diversity and (ii) signature mutations associated with liver disease progression. With the exception of 1 patient infected with HBV/B, all 52 patients (98.1%) were infected with HBV/C, subgenotype C2. These strains were 98.4% identical and the frequency of amino acid substitutions occurring within key immunological epitopes increased with disease severity. A number of amino acid/nucleotide substitutions were associated with HCC, namely sR24K (HBsAg), SI126T (HBsAg), and pcA1846T (precore gene) mutations (P,=,0.029, 0.001, and 0.008, respectively). HBV harboring deletions in the pre-S region were also associated with increased liver disease severity (chronic hepatitis B vs. cirrhosis, P,=,0.040; chronic hepatitis B vs. HCC, P,=,0.040). Despite the high degree of sequence conservation, several key HBV mutations were associated with disease progression. Prospective studies with larger cohorts of patients are required to evaluate further the clinical manifestation of HBV/C2 in Korea. J. Med. Virol. 82: 1126,1134, 2010. © 2010 Wiley-Liss, Inc. [source] Hepatitis B virus X mutations occurring naturally associated with clinical severity of liver disease among Korean patients with chronic genotype C infection,JOURNAL OF MEDICAL VIROLOGY, Issue 8 2008Hyun-Ju Kim Abstract Few reports have detailed mutation frequencies and mutation patterns in the entire X region according to clinical status. The aims of this study were to elucidate the relationships between mutation patterns and their frequencies in the X region and clinical status in a Korean cohort and determine specific X mutation types, related closely with liver disease progression. All X mutations were determined by direct sequencing in 184 patients with different clinical features. Mutation rates in the X region in patients with more severe liver disease, hepatocellular carcinoma (HCC) (3.6%) or liver cirrhosis (4%) were always significantly higher than in patients with corresponding less severe forms, chronic hepatitis (2.9%) or asymptomatic carriers (2.1%), but no significant difference in mutation rates was found in terms of HBeAg serostatus. All five mutation types (V5M/L, P38S, H94Y, I127T/N, and K130M and V131I) affecting the six codons were found to be related significantly to clinical severity. Among these, two mutation types (V5M/L and K130M and V131I) were observed more frequently in HBeAg negative patients than in HBeAg positive patients. In conclusion, the results suggest that an accumulation of mutations in the X region contributes to disease progression in chronic patients, at least Korean patients with genotype C. Specific mutation types appears to be related more to severe liver diseases such as HCC or liver cirrhosis. In particular, a novel mutation type (V5M/L) discovered firstly during the present study was found to be associated significantly with HCC. J. Med. Virol. 80:1337,1343, 2008. © 2008 Wiley-Liss, Inc. [source] Comparison of dentine hypersensitivity in selected occidental and oriental populationsJOURNAL OF ORAL REHABILITATION, Issue 1 2001D. G. Gillam Epidemiological data on dentine hypersensitivity (DH) prevalence are limited. Few studies have compared prevalence between populations. The aim of this investigation, therefore, was to compare the perception and prevalence of DH in two distinct non-periodontal practice populations, one U.K. and one Korean. Completed questionnaires from 557 patients (230 males and 327 females, comprising 115 males and 162 females, mean age 41·7 years (s.d.=14·36), U.K. and 115 males and 165 females, mean age 29·7 years (s.d.=11·86), Korean) were collected. Analysis was by frequency distribution and cross-tabulation (Statistical Package for the Social Sciences (SPSS)). DH prevalence was similar and at levels comparable with those reported previously. Prevalence was higher in the third and fourth decades in both populations. Although there were no differences between U.K. or Korean males and U.K. or Korean females, there was a significant difference between gender reporting of DH, with more females complaining of DH than males (standard normal deviation (SND)=4·3, 95% confidence interval (CI)=0·1134,0·2736). DH appeared to be regarded by patients as not severe in most cases, so treatment was not generally sought. Of those who claimed to have sought treatment, a significant number had received restorative treatment. Of those patients, only 23·3% of U.K. and ,2% of Korean patients claimed to have used a desensitizing dentifrice. Pain from DH was reported as low grade (slight, occasional) occurring over 5 years in both populations. Cold appeared to be the most reported stimulus in the two populations. Less periodontal surgery had been undertaken in these two populations (12·6% U.K. and 7·1% Korean) compared with those referred to a teaching hospital periodontal department (34·5%). This compared favourably with previous findings in the general dental population (15·5%). Discomfort following hygiene therapy did not appear to last ,7 days in either population. The results indicated that there were no significant differences between U.K.- and Korean-based populations in their perception of DH, with the exception that more females complained of sensitivity than males in both groups. Overall, DH was not considered a major dental problem by most patients in either of the populations. [source] Endothelial nitric oxide synthase gene polymorphisms in patients with nontraumatic femoral head osteonecrosisJOURNAL OF ORTHOPAEDIC RESEARCH, Issue 8 2006Kyung-Hoi Koo Abstract As endothelial nitric oxide synthase (eNOS) has beneficial effects on skeletal, vascular, and thrombotic systems, the association between nontraumatic femoral head osteonecrosis (FHON) and eNOS gene polymorphisms was investigated in Korean patients with FHON. Genomic DNA from 103 patients with nontraumatic FHON (idiopathic in 50, steroid-induced in 29, and alcohol abuse in 24) and 103 control subjects matched for gender and age (3-year range) was analyzed for the 27-bp repeat polymorphism in intron 4 and Glu298Asp polymorphism in exon 7. The frequencies of alleles and genotypes were compared between patients and control subjects. The frequency of 4a allele was significantly higher in total patients than control subjects [6.8% vs. 2.4%, p,=,0.0345, odds ratio (OR) 2.931]. In subgroup analysis, the 4a allele significantly increased in patients with idiopathic FHON versus control subjects (9.0% vs. 2.4%, p,=,0.0297, OR 3.976). The frequency of the 4a/b genotype in total patients (13.6% vs. 4.9%, p,=,0.0302, OR 3.083) as well as patients with idiopathic FHON (18.0% vs. 4.9%, p,=,0.0246, OR 4.302) was higher than control subjects. The distribution of Glu298Asp polymorphisms was not significantly different between patients and control subjects. Microstellate polymorphism in intron 4 of eNOS polymorphism was significantly associated with idiopathic FHON in Korean patients. Because 4a allele is associated with lower synthesis of eNOS, these results suggest that carrier state of 4a allele in intron 4 might be a genetic risk factor of FHON and could provide insight into the protective role of nitric oxide in the pathogenesis of FHON. © 2006 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 24:1722,1728, 2006 [source] Effects of ablative 10,600-nm carbon dioxide fractional laser therapy on suppurative diseases of the skin: A case series of 12 patientsLASERS IN SURGERY AND MEDICINE, Issue 8 2009Sung Bin Cho MD Abstract Background and Objectives We have used an ablative 10,600-nm carbon dioxide fractional laser system (CO2 FS) for suppurative diseases in order to attempt improvement. The purpose of our study was to demonstrate the effect of CO2 FS on the course of inflammatory reactions in suppurative diseases. Materials and Methods We reviewed a total of 12 Korean patients with suppurative diseases of the skin who had a history of treatment failure with several therapeutic modalities as well as active and multiple inflammatory lesions at the time of CO2 FS treatment. Results Improvement scores considering the number of suppurative lesions revealed that 3 of the 12 patients demonstrated clinical improvement of grade 4. Seven had clinical improvement of grade 3 and two showed improvement of grade 2. Improvement scores in severity were also evaluated; 2 of the 12 patients showed clinical improvement of grade 4. Six demonstrated clinical improvement of grade 3 and four had clinical improvement of grade 2. No patient showed a worsening of suppurative lesions. Conclusion Our observations demonstrated that the use of CO2 FS did not make active suppurative lesions worse, and might have a therapeutic effect on suppurative diseases and their related scars. Lasers Surg. Med. 41:550,554, 2009. © 2009 Wiley-Liss, Inc. [source] Diagnosis and phenotypic classification of Wilson disease,LIVER INTERNATIONAL, Issue 3 2003Peter Ferenci Wilson disease is an inherited autosomal recessive disorder of hepatic copper metabolism leading to copper accumulation in hepatocytes and in extrahepatic organs such as the brain and the cornea. Originally Wilson disease was described as a neurodegerative disorder associated with cirrhosis of the liver. Later, Wilson disease was observed in children and adolescents presenting with acute or chronic liver disease without any neurologic symptoms. While diagnosis of neurologic Wilson disease is straightforward, it may be quite difficult in non-neurologic cases. Up to now, no single diagnostic test can exclude or confirm Wilson disease with 100% certainty. In 1993, the gene responsible for Wilson disease was cloned and localized on chromosome 13q14.3 (MIM277900) (1, 2). The Wilson disease gene ATP7B encodes a P-type ATPase. More than 200 disease causing mutations of this gene have been described so far (3). Most of these mutations occur in single families, only a few are more frequent (like H1069Q, 3400delC and 2299insC in Caucasian (4,6) or R778L in Japanese (7), Chinese and Korean patients). Studies of phenotype-genotype relations are hampered by the lack of standard diagnostic criteria and phenotypic classifications. To overcome this problem, a working party discussed these problems in depth at the 8th International Meeting on Wilson disease and Menkes disease in Leipzig/Germany (April 16,18, 2001),. After the meeting, a preliminary draft of a consensus report was mailed to all active participants and their comments were incorporated in the final text. [source] Identification of the repeated number of C and D regions of tyrosine phosphorylation motifs in Helicobacter pylori cagA using multiplex PCRMICROBIOLOGY AND IMMUNOLOGY, Issue 10 2008Byungrak An ABSTRACT Various tyrosine phosphorylation motif regions of H. pylori cagA exist. The number of these regions was found to have some influence on cell signaling, which was found to be more pronounced when in D (ESS) region than in C (WSS) region. A molecular biological method with multiplex PCR was developed to distinguish C and D regions, and to identify the repetition number of tyrosine phosphorylation of the cagA gene. Multiplex PCR using novel primer sets was performed on 73 strains of H. pylori isolated from Korean patients with upper gastrointestinal diseases. The Western cagA was identified in only 3 strains (4.1%) whereas East Asia cagA was identified in 69 strains (94.5%). These results were reconfirmed through a sequencing analysis. The method developed in this study would be useful for monitoring the repeated number of C and D regions of tyrosine phosphorylation motifs in H. pylori cagA. [source] Association of DRD3 and GRIN2B with impulse control and related behaviors in Parkinson's disease,MOVEMENT DISORDERS, Issue 12 2009Jee-Young Lee MD Abstract We aimed to assess whether allelic variants of dopamine receptor, glutamate receptor, and serotonin transporter genes are associated with the appearance of impulse control and related behaviors (ICRB) in Parkinson's disease (PD) with dopamine replacement therapy (DRT). We surveyed ICRB in consecutive Korean patients with PD who were treated with stable DRT using modified Minnesota Impulsive Disorders Interview over a period of 4 months. In the 404 patients who completed the interview and the 559 Korean healthy normal controls, genotyping was performed for variants of the DRD3 p.S9G, DRD2Taq1A, GRIN2B c.366C>G, c.2664C>T and c.-200T>G, and the promoter region of the serotonin transporter gene (5-HTTLPR). Behavioral abnormalities suggestive of ICRB including compulsive buying, gambling, sexual behavior and eating, and punding, were present in 14.4% of the patients. Variants of DRD2 and 5-HTTLPR were not associated with the risk of developing ICRB. However, the AA genotype of DRD3 p.S9G and the CC genotype of GRIN2B c.366C>G were more frequent in patients with ICRB than in nonaffected patients (odds ratio [OR] = 2.21, P = 0.0094; and 2.14, P = 0.0087, after adjusting for age and sex). After controlling for clinical variables in the multivariate analysis, carriage of either AA genotype of DRD3 or CC genotype of GRIN2B was identified as an independent risk factor for ICRB (adjusted OR: 2.57, P = 0.0087). Variants of DRD3 p.S9G and GRIN2B c.366C>G may be associated with the appearance of ICRB in PD. © 2009 Movement Disorder Society [source] A Korean experience with chronic actinic dermatitis during an 18-year period: meteorological and photoimmunological aspectsPHOTODERMATOLOGY, PHOTOIMMUNOLOGY & PHOTOMEDICINE, Issue 6 2009Kyu-Won Choi Background and purpose: The authors noted that chronic actinic dermatitis (CAD) increased in connection with increased sun exposure and believed that there may be a correlation between the two. The purpose of this study was to determine the relationship between increased sun exposure and CAD. We also applied a clinical severity scoring system to determine the correlation with various laboratory parameters. Materials and methods: We investigated trends in sun exposure in Pusan during an 18-year period. We conducted photopatch/patch testing in 51 CAD patients. We also determined the total IgE, percentage of eosinophils, and chemokine receptor profiles in the peripheral blood and analyzed correlations between laboratory data and the clinical severity of CAD. Results: A close correlation was demonstrated between the number of CAD patients and increased sun exposure. Positive patch test reactions and positive photopatch reactions were observed in 35 and 41 of the 51 tested patients, respectively. The total IgE levels were higher in the severe group than in the others. CCR4 expression increased in parallel with clinical severity. Conclusion: Korean patients may have increased susceptibility to CAD with increased sun exposure. We believe that the majority of the CAD patients tested had photoallergy and contact allergy. The clinical severity seemed to correlate well with the total IgE level and CCR4 expression. [source] Long-term effect of bronchial artery embolization in Korean patients with haemoptysisRESPIROLOGY, Issue 6 2006Yong Gil KIM Objective and background: Bronchial artery embolization (BAE) has been regarded as a bridging therapy in the management of massive haemoptysis until a more definite therapy can be pursued. The long-term effectiveness of BAE and the factors associated with failure to control bleeding in an Asian setting of tuberculosis are unknown and were investigated. Methods: Over approximately 4 years, 139 patients received BAE to treat haemoptysis at a single centre, of these, 118 had been followed up for more than 1 year (median 23 months) and were retrospectively recruited into the study. Patients were divided into those who required readmission for treatment of recurrent haemoptysis after BAE (re-bleeding group), and those who did not (non-rebleeding group). Results: Of the 118 patients, 112 (95.8%) had haemoptysis of greater than 100 mL per day. The most common underlying cause of haemoptysis was pulmonary tuberculosis. Eight patients, four of whom had advanced lung cancer, died after BAE. There were 32 patients (27.1%) in the re-bleeding group. Aspergillosis was significantly associated with re-bleeding after BAE (P < 0.05). There were no differences in gender, age, degree of haemoptysis, or APACHE II scores between the re-bleeding and non-rebleeding groups. Twelve patients in the re-bleeding group had a repeat BAE only, whereas seven underwent surgery after repeat BAE. Of the 118 patients who underwent initial BAE, one showed a transient spinal ischaemia. Conclusions: BAE with appropriate medical treatment should be sufficient for most patients with massive haemoptysis. In patients with massive haemoptysis due to aspergilloma, however, elective surgery should be considered if bleeding is not controlled by repeated BAE. [source] Quality of life for Korean patients with vitiligo: Skindex-29 and its correlation with clinical profilesTHE JOURNAL OF DERMATOLOGY, Issue 6 2009Do Young KIM ABSTRACT Vitiligo considerably influences the psychological well-being of patients. Disease-induced disfigurement can cause patients to experience a high level of stigmatization, which can lead to psychosocial stresses and negative impacts on quality of life (QOL). This study aims to ascertain the QOL of vitiligo patients compared to patients with other mild skin disorders. We also attempt to study which clinical features of vitiligo are closely related to the patient's QOL. One hundred and thirty-three vitiligo patients and 112 patients with mild skin disorders were analyzed. All participants were asked to fill out questionnaires covering comprehensive clinical profiles and the Korean version of Skindex-29. Statistical correlation between Skindex-29 and each clinical profile were analyzed. The symptom scale of Skindex-29 was significantly lower in vitiligo patients than in controls, but the function scale and the emotion scale were significantly higher in the vitiligo group than in controls. However, the difference in function scales between groups was significant in female patients, but not in male patients. Several clinical profiles, such as duration of disease, severity scores and previous history of treatments, showed close correlations with the function scale. Family history of vitiligo, Köebner phenomenon, patients' perspectives on disease prognosis, and discordance of the severity scores between physicians and patients also influenced the Skindex-29 subscales differently. In conclusion, the present study suggests that patients with vitiligo were highly affected in the functional and emotional aspects of QOL, with some sex differences. Various clinical features may play an important role in the QOL of vitiligo patients. [source] ORIGINAL ARTICLE: Transforming Growth Factor-Beta1 Gene Polymorphisms in Korean Patients with Pre-eclampsiaAMERICAN JOURNAL OF REPRODUCTIVE IMMUNOLOGY, Issue 4 2010Shin Young Kim Citation Kim SY, Lim JH, Park SY, Yang JH, Kim MY, Kim MH, Ryu HM. Transforming growth factor-beta1 (TGF-,1) gene polymorphisms in Korean patients with pre-eclampsia. Am J Reprod Immunol 2010; 63: 291,298 Problem, The aim of this study was to investigate whether c.869T>C (Leu10Pro) and c.915G>C (Arg25Pro) polymorphisms in exon1 of the transforming growth factor-beta1 (TGF-,1) gene are associated with development of pre-eclampsia (PE) in Korean women. Method of study, We analyzed blood samples from 164 patients with PE and 182 healthy pregnant women using the polymerase chain reaction and DNA sequencing. Results, The frequencies of the 869CC and combined TC/CC genotypes were higher in patients with PE than in healthy controls. In the PE with intrauterine growth restriction (IUGR), the frequencies of these genotypes were also higher than that in controls. Furthermore, the 869C allele frequency was significantly higher in both PE and IUGR-complicated PE than in controls. Multivariate analysis showed that the 869TC, CC, and combined TC/CC genotypes were associated with an increased risk of PE compared with the 869TT genotype. In addition, the 869TC, CC, and combined TC/CC genotypes were significantly associated with an increased risk of IUGR-complicated PE compared with the 869TT genotype. The TGF-,1 c.915G>C polymorphism was not detected in our population. Conclusion, Our findings indicate that the TGF-,1 c.869T>C polymorphism may be a genetic risk factor for PE and IUGR-complicated PE. [source] TRAF1 polymorphisms associated with rheumatoid arthritis susceptibility in Asians and in CaucasiansARTHRITIS & RHEUMATISM, Issue 9 2009Tae-Un Han Objective Recent genome-wide association scans and replication studies of European populations have disclosed several single-nucleotide polymorphisms (SNPs) associated with rheumatoid arthritis (RA) susceptibility. The aim of this study was to evaluate the RA-associated loci by genotyping previously reported SNPs and additional tag SNPs in a Korean population. Methods A total of 1,316 unrelated RA patients and 1,006 controls were genotyped for 12 SNPs identified in genome-wide scans and for 12 additional tag SNPs in IL2RB, OLIG3,TNFAIP3, PTPN22, and TRAF1,C5, and the findings were statistically compared. Results None of the SNPs tested was associated with RA susceptibility, except rs7021206 in TRAF1 intron 3 (P = 0.0032) and, among the SNPs previously reported, rs6457617 in HLA (P = 4.6 × 10,35). The association of rs7021206 was positive in patients who were seropositive for rheumatoid factor (P = 0.0051) or for anti,cyclic citrullinated peptide autoantibodies (P = 0.0062). However, Korean patients were negative for the association of rs3761847 in the TRAF1,C5 intergenic region previously reported in Caucasians. Linkage disequilibrium between rs3761847 and rs7021206 was not as high in Koreans (r2 = 0.37) as in Caucasians (r2 = 0.67), which explains the lack of association of rs3761847 in Koreans. Accordingly, RA susceptibility was localized to an extended haplotype marked by rs7021206 rather than rs3761847, and SNPs highly correlated with rs7021206 (r2 , 0.81) extended from rs1953126 in the PHF19,TRAF1 intergenic region to rs2900180 in the TRAF1,C5 intergenic region, spanning 66 kb. Conclusion Our results demonstrate that within and around TRAF1, excluding PHF19 and C5, SNPs highly correlated with rs7021206, but not those correlated with rs3761847, are associated with RA in both Asians and Caucasians and are possibly correlated with causative variations. [source] Genetic risk factors for rheumatoid arthritis differ in caucasian and Korean populationsARTHRITIS & RHEUMATISM, Issue 2 2009Hye-Soon Lee Objective Recent studies have identified a number of novel rheumatoid arthritis (RA) susceptibility loci in Caucasian populations. The aim of this study was to determine whether the genetic variants at 4q27, 6q23, CCL21, TRAF1/C5, and CD40 identified in Caucasians are also associated with RA in a Korean case,control collection. We also comprehensively evaluated the genetic variation within PTPN22, a well-established autoimmune disease,associated gene. Methods We designed an experiment to thoroughly evaluate the PTPN22 linkage disequilibrium region, using tag single-nucleotide polymorphisms (SNPs) and disease-associated SNPs at 5 RA-associated loci recently identified in Caucasians, in 1,128 Korean patients with RA and 1,022 ethnically matched control subjects. We also resequenced the PTPN22 gene to seek novel coding variants that might be contributing to disease in this population. Results None of the susceptibility loci identified in Caucasian patients with RA contributed significantly to disease in Koreans. Although tag SNPs covering the PTPN22 linkage disequilibrium block were polymorphic, they did not reveal any disease association, and resequencing did not identify any new common coding region variants in this population. The 6q23 and 4q27 SNPs assayed were nonpolymorphic in this population, and the TRAF1/C5, CD40, and CCL21 SNPs did not show any evidence for association with RA in this population of Korean patients. Conclusion The genetic risk factors for RA are different in Caucasian and Korean patients. Although patients of different ethnic groups share the HLA region as a major genetic risk locus, most other genes shown to be significantly associated with disease in Caucasians appear not to play a role in Korean patients with RA. [source] COL7A1 mutational analysis in Korean patients with dystrophic epidermolysis bullosaBRITISH JOURNAL OF DERMATOLOGY, Issue 6 2007S-W. Oh First page of article [source] Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 casesBRITISH JOURNAL OF DERMATOLOGY, Issue 2 2006K. Yasukawa Summary Background, Epidermolysis bullosa simplex (EBS) comprises a group of hereditary bullous diseases characterized by intraepidermal blistering caused by mutations in either keratin gene, KRT5 or KRT14. Significant correlation between the position of mutations within these proteins and the clinical severity of EBS has been noted. A recent report showed EBS cases in Israel had unique genetic features compared with European or U.S.A. associated families, which suggests that the ethnic and geographical features of EBS patients may be different. Objectives, To assess the possibility that EBS may present with certain specific features in Japanese and Koreans and to identify additional EBS mutations for genotype/phenotype correlation. Methods, EBS was clinically diagnosed and confirmed by transmission electron microscopic examination of a skin biopsy. Mutation analysis of KRT5 and KRT14 was performed by direct sequencing in 17 Japanese and two Korean EBS patients. Results, We have identified six novel KRT5 missense mutations (V143D, D158V, V186M, Q191P, R352S, G517D). R352S is the first mutation in the 2A domain. Most of these novel mutations changed amino acids that were evolutionarily conserved. Eight including all five mutations in EBS-Dowling,Meara patients have been previously reported. We were unable to detect mutations in five sporadic EBS-Koebner patients. The proportion of mutations in KRT5 (11 of 14; 78%) is higher than that for KRT14 mutations (3 of 14; 21%) in these Japanese and Korean EBS patients. Conclusions, Japanese and Korean patients with EBS showed very similar phenotype and genotype correlations with patients from Western countries. Whether the higher proportion of KRT5 mutations is a definite characteristic of Japanese and Korean patients with EBS or not, requires further research into mutations in Japanese and Korean people. [source] Psoriasis genomics: analysis of proinflammatory (type 1) gene expression in large plaque (Western) and small plaque (Asian) psoriasis vulgarisBRITISH JOURNAL OF DERMATOLOGY, Issue 4 2004W. Lew Summary Background, Type 1 T cells are hypothesized to be central in the immunopathogenesis of psoriasis. Through elaboration of interferon (IFN)-,, type 1 T cells regulate the expression of many ,downstream' inflammatory genes, including an array of chemokines that regulate leucocyte trafficking and activation in skin lesions. Accordingly, disease progression and/or severity might be controlled by the degree to which differing cytokines and chemokines are overexpressed in focal skin regions. To examine this possibility, we studied two forms of chronic psoriasis vulgaris that differ significantly in overall severity and progression: small plaque (SP) psoriasis occurring in Korean patients, and large plaque (LP) psoriasis occurring in North American patients. Objectives, To characterize LP and SP psoriasis vulgaris with respect to expression of proinflammatory genes that define the type 1 T-cell axis in skin lesions [genes encoding interleukin (IL)-12, IFN-,, and IFN-,-regulated chemokines or inflammatory mediators]. Methods, Total cellular RNA of skin samples from groups of patients with LP or SP psoriasis was analysed by quantitative reverse transcription-polymerase chain reaction (TaqMan analysis) to compare the differences in mRNA expression of genes related to the IFN-, pathway. Results, The mRNA expression of keratin 16, CD25, IFN-,, IL-12 p40, signal transducer and activator of transcription-1, inducible nitric oxide synthase, IL-8, macrophage inflammatory protein-3,, monocyte chemoattractant protein-1, S100A12, IFN-,-inducible protein of 10 kDa, IFN-inducible T-cell ,-chemoattractant and monokine induced by IFN-, was increased in the lesions of both LP psoriasis and SP psoriasis. However, IL-18 mRNA expression was significantly different in the lesions of LP psoriasis in comparison with those of SP psoriasis. Conclusions, The results indicate that proinflammatory type 1 genes regulated by IFN-, are similarly increased in both SP and LP psoriasis, but a potential difference in IL-18 exists between these disease forms. The consistent activation of this set of genes argues for a central role of IFN-, as a molecular regulator of inflammation in these distinct subtypes of psoriasis vulgaris. In contrast, disease extent/severity must be controlled by yet other factors. [source] The relationship of pain and health-related quality of life in Korean patients with Parkinson's diseaseACTA NEUROLOGICA SCANDINAVICA, Issue 6 2009J. H. Roh Background,,, Parkinson's disease (PD) is a chronic progressive neurodegenerative disorder. Increasing attention has been focused on the pain and health-related quality of life (HrQOL) in patients with PD. Objective,,, To evaluate the relationship between pain and the HrQOL in patients with PD. Methods,,, Eighty-two patients with PD were included and classified into two groups according to the presence of pain. The Hoehn and Yahr scale, the Unified Parkinson's Disease Rating Scale (UPDRS), the Modified Somatic Perception Questionnaire (MSPQ), the Zung Depression Inventory , Self-rating Depression Scale (SDS), the Visual Analogue Scale and the Medical Outcomes Study 36-Item Short Form Health Survey (SF-36) were administered. The factors influencing the pain, HrQOL and parkinsonian manifestations were evaluated. Results,,, The PD with pain group had higher UPDRS part III scores, lower SF-36 scores, higher SDS scores and higher MSPQ scores than the PD without pain group. The presence of pain, high Hoehn and Yahr stage, advanced age and somatic perception were the factors that had a negative effect on the physical component of the HrQOL. Depression and somatic perception were the most important predictive factors for the mental component of the HrQOL. Depression and poor parkinsonian motor abilities were the leading factors contributing to pain. Conclusion,,, Pain and depression were major detrimental factors affecting the physical and mental aspects of the HrQOL respectively. Therefore, the treatment of pain and depression can be important to improve the HrQOL. [source] | |||||||||||||||||||||||||||||||