• Title/Summary/Keyword: variation in diagnosis

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The Genetic Variations of RETNLB Gene are Associated with Serum Levels of Alkaline Phosphatase in the Korean Population

  • Ahn, Hyo-Jun;Eom, Yong-Bin
    • Biomedical Science Letters
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    • v.19 no.4
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    • pp.338-343
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    • 2013
  • Serum levels of alkaline phosphatase (ALP) are widely used in the clinical diagnosis of hepatic diseases and the assessment of liver status. They also have epidemiological significance to be prospective risk factors for bone diseases, such as osteitis deformans, rickets, osteomalacia, hyperparathyroidism, healing fractures, and osteoblastic bone tumors. In the previous study, single nucleotide polymorphisms (SNPs) in several genes have been reported to be associated with serum levels of liver enzyme in American population. We aimed to confirm whether the genetic variation of RETNLB (resistin like beta) gene also influence the serum levels of liver enzyme in Korean population. We genotyped variants in or near RETNLB in a population-based sample including 994 Korean adults. Here, we performed association analysis to elucidate the possible relations of genetic polymorphisms in RETNLB gene with serum levels of liver enzyme. By examining genotype data of a total of 944 subjects in 5 hospital health promotion centers, we discovered the RETNLB gene polymorphisms are associated with serum levels of ALP. The common and highest significant polymorphism was rs736327 (${\beta}$=8.66, P=2.37E-05), rs7639070 (${\beta}$=8.56, P=3.24E-05) with ALP in all groups. Furthermore, the ALP was consistently associated with rs736327 (${\beta}$=10.40, P=5.23E-05), rs7639070 (${\beta}$=10.32, P=6.74E-05) in the male population. Consequently, we found statistically significant SNPs in RETNLB gene that are associated with serum levels of ALP. In addition, these results suggest that the individuals with the minor alleles of the SNP in the RETNLB gene may have elevated serum levels of ALP in the Korean population.

Implementation and Evaluation of the LUTS Diagnosis System Using FPGA (FPGA를 이용한 LUTS 진단 시스템 구현 및 평가)

  • Jeong, Do-Un;Chung, Wan-Young;Jeon, Gye-Rock
    • Journal of the Institute of Convergence Signal Processing
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    • v.8 no.1
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    • pp.6-14
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    • 2007
  • The purpose of urodynamic investigation is to determine information on the function of the urinary system. One of the most frequently used measurement procedures in urodynamics is filling and voiding cystometry using invasive method. But in this method transurethral catheter is use and it makes patients uncomfortable. The aim of this study was to implement the system that could evaluate the function of urinary tract with noninvasive and comfortable method. Therefor in this study, a sensor and measuring system were implemented to measure uroflow, urophonography and noninvasive bladder pressure signal during urination for diagnosing the LUTS(lower urinary tract symptoms) using noninvasive method. The implemented system compose of the sensor parts, signal conditioning parts, system control parts using FPGA and PC monitoring program. For the evaluation of the implemented system, the simulation of system's control part was performed and the model system for the lower urinary system was designed. From the evaluation of the model system, the mean error rate of the uroflow measurement part was 1.08% and coefficient of variation was 1,48. And the mean error rate of the noninvasive bladder pressure measurement part was 2.41% and coefficient of variation was 2.81. urophongraphy signal analysis was accomplished in a time domain and frequency domain. Average RMS power was used in a time domain analysis, and MF was used in a frequency domain analysis. From the evaluation of the model system average RMS power and MF was dependent on the occlusion degree significantly and median frequency range of $60{\sim}160Hz$ was correlated with the occlusion.

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Lung Adenocarcinoma Gene Mutation in Koreans: Detection Using Next Generation Sequence Analysis Technique and Analysis of Concordance with Existing Genetic Test Methods (한국인의 폐선암 유전자 돌연변이: 차세대 염기서열 분석법을 이용한 검출 및 기존 유전자 검사법과의 일치도 분석)

  • Jae Ha BAEK;Kyu Bong CHO
    • Korean Journal of Clinical Laboratory Science
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    • v.55 no.1
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    • pp.16-28
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    • 2023
  • Lung adenocarcinoma accounts for about 40% of all lung cancers. With the recent development of gene profiling technology, studies on mutations in oncogenes and tumor suppressor genes, which are important for the development and growth of tumors, have been actively conducted. Companion diagnosis using next-generation sequencing helps improve survival with targeted therapy. In this study, formalin-fixed paraffin-embedded tissues of non-small cell lung cancer patients were subjected to hematoxylin and eosin staining for detecting genetic mutations that induce lung adenocarcinoma in Koreans. Immunohistochemical staining was also performed to accurately classify lung adenocarcinoma tissues. Based on the results, next-generation sequencing was applied to analyze the types and patterns of genetic mutations, and the association with smoking was established as the most representative cause of lung cancer. Results of next-generation sequencing analysis confirmed the single nucleotide variations, copy number variations, and gene rearrangements. In order to validate the reliability of next-generation sequencing, we additionally performed the existing genetic testing methods (polymerase chain reaction-epidermal growth factor receptor, immunohistochemistry-anaplastic lymphoma kinase (D5F3), and fluorescence in situ hybridiation-receptor tyrosine kinase 1 tests) to confirm the concordance rates with the next-generation sequencing test results. This study demonstrates that next-generation sequencing of lung adenocarcinoma patients simultaneously identifies mutation.

INVESTIGATION OF EQUINE HEMATOLOGICAL CONSTITUENTS IN CENTRAL TAIWAN. I. DISTRIBUTION OF THE BLOOD CELL PARAMETERS AND THE BIOCHEMICAL COMPOSITIONS OF SERUM

  • Ju, J.C.;Cheng, S.P.;Fan, Y.K.;Hsu, J.C.;Chiang, S.K.;Chen, E.V.;Chang, S.H.;Chiou, S.C.
    • Asian-Australasian Journal of Animal Sciences
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    • v.6 no.1
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    • pp.147-153
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    • 1993
  • A total of 109 heads of horses and ponies from eight horseback riding clubs nearby Central Taiwan were investigated to evaluate the blood parameters and the biochemical compositions of serum for the documentation of clinical pathological diagnosis and exercise physiology. Blood samples were collected from the jugular vein of resting horses. The sex difference in the blood traits were compared both in horses and in ponies. Results shows that total plasma proteins (PP) and hematocrit (PCV) were found higher in male horses than in females (p < 0.05). The sexual effect also exertes a significant influence on the leucocyte (WBC) count, but not on the erythrocyte (RBC) concentration. According to the differential counts of leucocytes, the number of monocytes and lymphocytes was higher in the male pony than that of in male horse. A close relationship Between the erythrocyte sedimention rate (ESR) and the other blood parameters were found especially in PCV, RBC concentration, and plasma protein level. The average ESR observed at 60 minutes were $21.80{\pm}21.87mm$, $39.50{\pm}18.90mm$ and $43.73{\pm}17.89mm$ in stallions, geldings, and mares, respectively. Most of the biochemical components of horse serum detected were distributed in normal ranges, although some of the items show a great variation in such a large sample size.

Participation Determinants in the DRG Payment System of Obstetrics and Gynecology Clinics in South Korea

  • Song, Jung-Kook;Kim, Chang-Yup
    • Journal of Preventive Medicine and Public Health
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    • v.43 no.2
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    • pp.117-124
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    • 2010
  • Objectives: The Diagnosis Related Group (DRG) payment system, which has been mplemented in Korea since 1997, is based on voluntary participation. Hence, the positive impact of this system depends on the participation of physicians. This study examined the factors determining participation of Korean obstetrics & gynecology (OBGYN) clinics in the DRG-based payment system. Methods: The demographic information, practice-related variables of OBGYN clinics and participation information in the DRG-based payment system were acquired from the nationwide data from 2002 to 2007 produced by the National Health Insurance Corporation and the Health Insurance Review & Assessment Service. The subjects were 336 OBGYN clinics consisting of 43 DRG clinics that had maintained their participation in 2003-2007 and 293 no-DRG (fee-for-service) clinics that had never been a DRG clinic during the same period. Logistic regression analysis was carried out to determine the factors associated with the participation of OBGYN clinics in the DRG-based payment system. Results: The factors affecting participation of OBGYN clinics in the DRG-based payment system were as follows (p<0.05): (1) a larger number of caesarian section (c/sec) claims, (2) higher cost of a c/sec, (3) less variation in the price of a c/sec, (4) fewer days of admission for a c/sec, and (5) younger pregnant women undergoing a c/sec. Conclusions: These results suggest that OBGYN clinics with an economic practice pattern under a fee-for-service system are more likely to participate in the DRG-based payment system. Therefore, to ensure adequate participation of physicians, a payment system with a stronger financial incentive might be more suitable in Korea.

Clinical Significance of Axin and β-catenin Protein Expression in Primary Hepatocellular Carcinomas

  • Guan, Cheng-Nong;Chen, Xin-Ming;Lou, Hai-Qing;Liao, Xiang-Hui;Chen, Bao-Ying;Zhang, Pei-Weng
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.2
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    • pp.677-681
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    • 2012
  • The aim of the present research was to investigate clinicopathologic correlations of immunohistochemically-demonstrated axin (axis inhibition) and ${\beta}$-catenin expression in primary hepatocellular carcinomas (HCCs), in comparison with paraneoplastic, cirrhotic and normal liver tissues. Variation in Axin expression across groups were significant (P < 0.01), correlating with alpha fetoprotein (AFP), HBsAg, cancer plugs in the portal vein, and clinical stage of HCCs(P < 0.05); however, there were no links with sex, age, and tumour size (P > 0.05). Differences in cell membrane ${\beta}$-catenin expression were also statistically significant (P < 0.01), again correlated with AFP, HBsAg, cancer plugs in the portal vein, and clinical stage in HCCs (P < 0.05) but not with sex, age, and tumour size (P > 0.05). Axin expression levels in tissues with reduced membrane ${\beta}$-catenin were low (P < 0.05), also being low with nuclear ${\beta}$-catenin expression (P < 0.05). Axin and ${\beta}$-catenin may play an important role in the genesis and progression of HCC via the Wnt signal transmission pathway. Simultaneous determination of axin, ${\beta}$-catenin, AFP, and HBsAg may be useful for early diagnosis, and metastatic and clinical staging of HCCs.

Hormone Receptor Expression and Clinicopathologic Features in Male and Female Breast Cancer

  • Shandiz, Fatemeh Homaei;Tavassoli, Aliraz;Sharifi, Nourieh;Khales, Sima Ardalan;Kadkhodayan, Sima;Khales, Sahar Ardalan
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.2
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    • pp.471-474
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    • 2015
  • Background: Male and female breast cancers were investigated for variation in the clinicopathologic characteristics and expression of steroid hormone receptors in the northeast of Iran. Materials and Methods: Tumor specimens of 17 males and 338 females with breast cancer were collected at the hospitals of Mashhad University of Medical Sciences. Immunohistochemical expression of hormone receptors and clinicopathologic features of breast cancer were compared between two groups. Results: The mean age in men was 15 years higher than women (p=0.000). Males and females were mainly in stage II and III respectively (p=0.007). Although more than 60% of male and female patients were grade II, the respective figures for grade I and III were 25% and 12.5% in men but 7.1% and 27.2% in women respectively (p=0.025). ER was significantly more positive in men against women; 82.3% versus 53.4% (p=0.016). The related measures for PR was 58.8% and 50.3%, respectively (p=0.424). Males also showed significantly more ER expression than postmenopausal females; 82.3% versus 48.9% (p=0.010). Conclusions: Breast cancer in males and females contrasted in age at diagnosis, histological type, stage, grade and ER expression which emphasize they are separate diseases with different behaviors.

Clinical and Biochemical Profile of Monoclonal Gammopathies in Caribbean Patients in a Resource-limited Setting

  • Buchner-Daley, Loretta;Brady-West, Doreen;McGrowder, Donovan
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.12
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    • pp.6501-6504
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    • 2012
  • Background: Multiple myeloma is the most common malignant plasma cell dyscrasia and ranks second among primary haematological malignancies. This study describes the epidemiologic, clinical and pathologic profile of monoclonal gammopathies seen in the University Hospital of the West Indies (UHWI), a tertiary care referral centre. Materials and Method: A retrospective analysis of 85 cases diagnosed at UHWI over the 5-year period 2003-2007 was conducted. The cases were identified from the bone marrow records as well as the computerized database of the Medical Records Department. Clinical presentation, family and personal history and demographic data were retrieved. Haematological and biochemical results were also analyzed. Results: There were 85 patients diagnosed with monoclonal gammopathies. The M:F ratio was 1.2:1 and the mean age was $65.7{\pm}1.3$ years. Eighty percent of the patients had skeletal pain and 40% experienced weight loss. Of the patients experiencing bone pain 56.7% had multiple lytic lesions, 26.7% had pathological fractures and 26.7% had compression fractures. Seventy-four patients (87.1%) had a haemoglobin level <12.0 g/dL with 52.9% having values <8.0 g/dL. Renal impairment was evident at diagnosis in 36.5%. Hypercalcemia was seen in 26.5% and hyperuricemia in 45.9%. Of the 79 patients who had serum protein electrophoresis performed, 77.2% had at least one monoclonal band and of these 24.6% had a monoclonal protein also present on urine protein electrophoresis. Conclusions: The demographic profile in this group of patients is largely similar to other studies in predominantly Caucasian populations; however there was a notable increase in prevalence of severe disease at presentation, with the majority of patients presenting at the most advanced stage. It is probable that these differences reflect socioeconomic factors and not merely inherent ethnic variation in disease biology.

Genetic Variations of Outer Membrane Protein Genes of Vibrio harveyi Isolated in Korea and Immunogenicity of OmpW in Olive Flounder, Paralichthys olivaceus (한국에서 분리된 Vibrio harveyi 외막단백질의 유전적 차이와 넙치(Paralichthys olivaceus)에 대한 OmpW의 면역원성 분석)

  • KIM, Myoung-Sug;JIN, Ji-Woong;JUNG, Sung-Hee;SEO, Jung-Soo;HONG, Suhee
    • Journal of Fisheries and Marine Sciences Education
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    • v.27 no.5
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    • pp.1508-1521
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    • 2015
  • Vibrio harveyi is a pathogenic marine bacterium causing systemic symptoms resulting in mass mortalities in fishes and shrimps in aquaculture. Outer membrane proteins(OMPs) are related to the pathogenicity and thus good targets for diagnosis and vaccination for Gram negative bacteria. Recently vaccination strategies using the OMPs have been suggested to control vibriosis in several fish species. In this study, we have isolated V. harveyi from diseased marine fishes from different regions of Korea and investigated genetic variations of four OMP genes including OmpK, OmpU, OmpV and OmpW. Consequently, OmpK and U genes could be divided into 3 subgroups of type I, II, III and type A, B, C, respectively, without any correlation with geographical regions and species while OmpV and W were highly homologous. OmpW gene of V. harveyi FP4138 was fully sequenced and predicted the deduced amino acid sequence to form ${\beta}-barrel$ with hydrophobic channel. Indeed, the immunogenicity of recombinant OmpW produced in Escherichia coli was assessed by vaccinating flounder. As a result, the high antibody response with antibody titer of $4.2{\pm}0.7$ and protection with relative percent survival of 60% against artificial infection of V. harveyi were demonstrated. This result indicates that OmpW is a virulence related factor and it can be a vaccine candidate to prevent a high mortality caused by V. harveyi infection in olive flounder, Paralichthys olivaceus.

Immunohistochemistry Subtypes (ER/PR/HER) of Breast Cancer: Where Do We Stand in the West of Saudi Arabia?

  • Khabaz, Mohamad Nidal
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.19
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    • pp.8395-8400
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    • 2014
  • In Saudi Arabia, cancer of breast is ranked the most frequent neoplasm and second source of cancer death in the female population. Breast cancer (BC) fast diagnosis, prognosis and medication management necessitate, these days, immunohistochemistry (IHC) assessment of hormone receptors and HER2 expression profile. The present report defines the IHC profile of ER, PR and HER2 in Saudi female breast neoplasms of ductal and lobular types and associations ER, PR and HER2 expression patterns with various clinicopathological factors (age, type of tumor, size, laterality, histological grade, and involvement of axillaries lymph nodes). Ninety nine cases of breast tumors were recruited from the pathology department archive of King Abdulaziz University Hospital, Kingdom of Saudi Arabia. ER, PR and HER2 expression was assessed using IHC staining. Ductal carcinomas with a variety of histological grades constituted 88 (88.8%) of total cases. Seventy four (77.8%), 59 (62.1%), and 35 (36.8%) of ductal carcinomas showed positive staining for ER, PR and HER2, in that order. Remaining breast cancer cases were four (4%) lobular carcinomas and two (2%) mixed form of ductal and lobular types, which were ER+, PR+, and HER2-. Breast cancer expression pattern of ER, PR and HER2 in Saudi female is different from that of Tunisian and Jordanian female populations and closer to the expression pattern of Egyptian, Lebanese, Iraqi and western country females. Furthermore, the present study found two IHC patterns of breast cancer ER+/PR-/HER2+ (5%) and ER+/PR-/HER2- (11.1%), which had not been reported in other Arabic studies. Thus the rates of IHC expression patterns in breast cancer show some variation among Arabic female populations.