DNA microarrays on a dendron-modified surface improve significantly the detection of single nucleotide variations in the p53 gene

Selectivity and sensitivity in the detection of single nucleotide polymorphisms (SNPs) are among most important attributes to determine the performance of DNA microarrays. We previously reported the generation of a novel mesospaced surface prepared by applying dendron molecules on the solid surface. DNA microarrays that were fabricated on the dendron-modified surface exhibited outstanding performance for the detection of single nucleotide variation in the synthetic oligonucleotide DNA. DNA microarrays on the dendron-modified surface were subjected to the detection of single nucleotide variations in the exons 5–8 of the p53 gene in genomic DNAs from cancer cell lines. DNA microarrays on the dendron-modified surface clearly discriminated single nucleotide variations in hotspot codons with high selectivity and sensitivity. The ratio between the fluorescence intensity of perfectly matched duplexes and that of single nucleotide mismatched duplexes was >5–100 without sacrificing signal intensity. Our results showed that the outstanding performance of DNA microarrays fabricated on the dendron-modified surface is strongly related to novel properties of the dendron molecule, which has the conical structure allowing mesospacing between the capture probes. Our microarrays on the dendron-modified surface can reduce the steric hindrance not only between the solid surface and target DNA, but also among immobilized capture probes enabling the hybridization process on the surface to be very effective. Our DNA microarrays on the dendron-modified surface could be applied to various analyses that require accurate detection of SNPs

Genetic diversity of Imjin virus in the Ussuri white-toothed shrew (Crocidura lasiura) in the Republic of Korea, 2004-2010

Recently, Imjin virus (MJNV), a genetically distinct hantavirus, was isolated from lung tissues of the Ussuri white-toothed shrew (Crocidura lasiura) captured near the demilitarized zone in the Republic of Korea. To clarify the genetic diversity of MJNV, partial M- and L-segment sequences were amplified from lung tissues of 12 of 37 (32.4%) anti-MJNV IgG antibody-positive Ussuri white-toothed shrews captured between 2004 and 2010. A 531-nucleotide region of the M segment (coordinates 2,255 to 2,785) revealed that the 12 MJNV strains differed by 0-12.2% and 0-2.3% at the nucleotide and amino acid levels, respectively. A similar degree of nucleotide (0.2-11.9%) and amino acid (0-3.8%) difference was found in a 632-nucleotide length of the L segment (coordinates 962 to 1,593) of nine MJNV strains. Phylogenetic analyses, based on the partial M and L segments of MJNV strains generated by the neighbor-joining and maximum likelihood methods, showed geographic-specific clustering, akin to the phylogeography of rodent-borne hantaviruses

Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction

This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.Abstract Background Three main genes are described as causative genes for early-onset Alzheimer dementia (EOAD): APP, PSEN1 and PSEN2. We describe a woman with EOAD had a novel PSEN1 mutation. Case report A 54-year-old right-handed woman presented 12-year history of progressive memory decline. She was clinically diagnosed as familial Alzheimer's disease due to a PSEN1 mutation. One of two daughters also has the same mutation, G209A in the TM-IV of PS1 protein. Her mother had unspecified dementia that began at the age of 40s. PolyPhen2 and SIFT prediction suggested that G209A might be a damaging variant with high scores. 3D modeling revealed that G209A exchange could result significant changes in the PS1 protein. Conclusion We report a case of EOAD having probable novel PSEN1 (G209A) mutation verified with structural prediction

Trends of Presentation and Clinical Outcome of Treated Renal Angiomyolipoma

PURPOSE: The purpose of this study is to set guidelines for the management of renal angiomyolipoma (AML), clinical prognosis according to tumor size, in association with tuberous sclerosis complex (TSC), multiplicity, radiographic finding, and treatment modality. MATERIALS AND METHODS: Between March 1998 and October 2008, 129 out of 254 patients with AML who underwent surgical intervention or angioembolization were enrolled. Diagnosis of AML was determined by the presence of a low attenuated component on CT imaging or by pathological confirmation. Indications of treatment were intractable pain, hematuria, suspicion of malignancy, large tumor size, spontaneous rupture, and radiographically equivocal tumors in which a differential diagnosis was needed to rule out malignancy. Parameters including age, sex, tumor size, multiplicity, radiographic characteristics, association with TSC, and treatment modality were reviewed. RESULTS: Age at presentation was 50.6 years and mean tumor size was 3.5 cm. Presentation symptoms were flank pain, hematuria, spontaneous rupture, and fatigue. 97 (75.2%) patients were incidentally discovered. 100 (77.5%) were females. 68 (52.7%) underwent nephron-sparing surgery (NSS), 35 (27.1%) radical nephrectomy, and 26 (20.2%) angioembolization. TSC was accompanied in 12 (9.3%) patients. No patient developed renal function impairment during the mean follow-up period of 64.8 months. Patients with TSC presented at a younger age, along with larger, bilateral, and multiple lesions. CONCLUSION: Significant differences in clinical manifestations and treatment outcomes were noted in respect to tumor characteristics, association with TSC, and treatment modality. Considering the benign nature of AML, these parameters ought to be considered when deciding upon active surveillance or prophylactic intervention.ope

Current Status of Clinical Diagnosis and Genetic Analysis of Hereditary Hemorrhagic Telangiectasia in South Korea: Multicenter Case Series and a Systematic Review

Purpose Hereditary hemorrhagic telangiectasia (HHT), a rare genetic vascular disorder, has been rarely reported in South Korea. We investigated the current prevalence and presenting patterns of genetically confirmed HHT in South Korea. Materials and Methods We defined HHT patients as those with proven mutations on known HHT-related genes (ENG, ACVRL1, SMAD4, and GDF2) or those fulfilling 3 or 4 of the Curaçao criteria. A computerized systematic search was performed in PubMed and KoreaMed using the following search term: (“hereditary hemorrhagic telangiectasia” AND “Korea”) OR (“Osler-Weber-Rendu” AND “Korea”). We also collected government health insurance data. HHT genetic testing results were collected from three tertiary hospitals in which the genetic tests were performed. We integrated patient data by analyzing each case to obtain the prevalence and presenting pattern of HHT in South Korea. Results We extracted 90 cases from 52 relevant articles from PubMed and KoreaMed. An additional 22 cases were identified from the three Korean tertiary hospitals after excluding seven cases that overlapped with those in the published articles. Finally, 112 HHT patients were identified (41 males and 71 females, aged 4–82 years [mean±standard deviation, 45.3±20.6 years]). The prevalence of HHT in South Korea is about 1 in 500,000, with an almost equal prevalence among men and women. Forty-nine patients underwent genetic testing, of whom 28 had HHT1 (ENG mutation) and 19 had HHT2 (ACVRL1 mutation); the other two patients were negative for ENG, ACVRL1, and SMAD4 mutations. Conclusion The prevalence of HHT is underestimated in Korea. The rate of phenotypic presentation seems to be similar to that found worldwide. Korean health insurance coverage is limited to representative genetic analysis to detect ENG and ACVRL1 mutations. Further genetic analyses to detect HHT3, HHT4, and other forms of HHT should be implemented

Prevalence of Otolaryngologic Diseases in South Korea: Data from the Korea National Health and Nutrition Examination Survey 2008

Objectives. The aims of this study were to evaluate the prevalence of otolaryngologic diseases in Korea. Methods. We obtained data from the 2008 Korea National Health and Nutrition Examination Surveys (KNHANES), which were cross-sectional surveys of the civilian, non-institutionalized population of South Korea (n=4,930). A field survey team that included an otolaryngologist, nurses, and interviewers moved with a mobile examination unit and performed otolaryngologic interviews and physical examinations. Results. The prevalence of subjective hearing loss, tinnitus, preauricular fistua, tympanic membrane perforation, and cholesteatoma were 11.97%, 20.27%, 2.08%, 1.60%, and 1.18%, respectively. Dizziness and vestibular dysfunction were common among Korean adults, since 23.33% of the participants reported symptoms of dizziness or imbalance, and the prevalence of vestibular dysfunction was 3.86%. The prevalence of nasal diseases was relatively high, as the prevalence of allergic rhinitis, chronic rhinosinusitis, and a deviated nasal septum were 28.01%, 7.12%, and 42.94%, respectively. Subjective dysphonia was found in 6.60% of the participants, and the prevalence of subjective dysphonia increased with age. Conclusion. This is the first nation-wide epidemiologic study to assess the prevalence of otolaryngologic diseases by both the Korean Otolaryngologic Society and the Ministry of Health and Welfare. Considering the high prevalence of otolaryngologic diseases in Korea, the results call for additional studies to better prevent and manage otolaryngologic diseases

A Study on Altered Expression of Serine Palmitoyltransferase and Ceramidase in Psoriatic Skin Lesion

Ceramides are the main lipid component maintaining the lamellae structure of stratum corneum, as well as lipid second messengers for the regulation of cellular proliferation and/or apoptosis. In our previous study, psoriatic skin lesions showed marked decreased levels of ceramides and signaling molecules, specially protein kinase C-alpha (PKC-α) and c-jun N-terminal kinase (JNK) in proportion to the psoriasis area and severity index (PASI) scores, which suggested that the depletion of ceramide is responsible for epidermal hyperproliferation of psoriasis via downregulation of proapoptotic signal cascade such as PKC-α and JNK. In this study, we investigated the protein expression of serine palmitoyltransferase (SPT) and ceramidase, two major ceramide metabolizing enzymes, in both psoriatic epidermis and non-lesional epidermis. The expression of SPT, the ceramide generating enzyme in the de novo synthesis in psoriatic epidermis, was significantly less than that of the non-lesional epidermis, which was inversely correlated with PASI score. However, the expression of ceramidase, the degradative enzyme of ceramides, showed no significant difference between the lesional epidermis and the non-lesional epidermis of psoriatic patients. This might suggest that decreased expression of SPT protein is one of the important causative factors for decreased ceramide levels in psoriasis

Comparison of International Normalized Ratio Measurement between CoaguChek XS Plus and STA-R Coagulation Analyzers

Background. Point-of-care testing (POCT) coagulometers are increasingly being used in the hospital setting. We investigated whether the prothrombin time international normalized ratio (INR) results by CoaguChek XS Plus (Roche Diagnostics GmbH, Mannheim, Germany) can be used reliably without being con�rmed with the INR results by STA-R system (Diagnostica Stago S.A.S, Asnières sur Seine, France). Methods. A total of 118 INR measurements by CoaguChek XS Plus and STA-R were compared using Passing/Bablok regression analysis and Bland-Altman plot. Agreement of the INR measurements was further assessed in relation to dosing decision. Results. e correlation of INR measurements between CoaguChek XS Plus and STA-R was excellent (correlation coefficient = 0.964). e mean difference tended to increase as INR results increased and was 0.25 INR in the therapeutic range (2.0-3.0 INR). e overall agreement was fair to good (kappa = 0.679), and 21/118 (17.8%) INR measurements showed a difference in dosing decision. Conclusion. e positive bias of CoaguChek XS Plus may be obvious even in the therapeutic INR range, and dosing decision based on the CoaguChek XS Plus INR results would be different from that based on the STA-R results. e INR measurements by POCT coagulometers still need to be con�rmed with the laboratory INR measurements

Effect of heat treatment of digestion-resistant fraction from soybean on retarding of bile acid transport in vitro

In this study, we investigated the heat effect of digestion-resistant fraction (RF) from soybean on retarding bile acid transport in vitro. The RFs from soybean retarded bile acid transport. A raw, unheated RF of soybean (RRF-SOY) was significantly more effective than the heated RF of soybean (HRF-SOY). The RS1 which physically trapped in milled grains and inaccessible to digestive enzyme after 18 hrs incubation level of content in RRF-SOY was found to be as high as 24.1% and after heating the RS1 of HRF-SOY was significantly reduced to 16.8%. The X-ray diffraction pattern of RF from soybean was altered after heat treatment. The RFs from soybean were characterized by peak at diffraction angles of 12.0° and 20.0° corresponding to RS content. Cellulose contents of RRF-SOY was 5% higher than that of HRF-SOY and pentosan contents of RRF-SOY was 5% higher than that of HRF-SOY, too. Whereas the hemicellulose content of RRF-SOY was 13% lower than HRF-SOY