• Title/Summary/Keyword: Clinical patterns

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BRCA1 Gene Exon 11 Mutations in Uighur and Han Women with Early-onset Sporadic Breast Cancer in the Northwest Region of China

  • Cao, Yu-Wen;Fu, Xin-Ge;Wan, Guo-Xing;Yu, Shi-Ying;Cui, Xiao-Bin;Li, Li;Jiang, Jin-Fang;Zheng, Yu-Qin;Zhang, Wen-Jie;Li, Feng
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.11
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    • pp.4513-4518
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    • 2014
  • The prevalence of BRCA1 gene mutations in breast cancer differs between diverse ethnic groups. Relatively little information is known about patterns of BRCA1 mutations in early-onset breast cancer in women of Uighur or Han descent, the major ethnic populations of the Xinjiang region in China. The aim of this study was to identify BRCA1 mutations in Uighur and Han patients with early-onset (age <35 years), and sporadic breast cancer for genetic predisposition to breast cancer. For detection of BRCA1 mutations, we used a polymerase chain reaction single-stranded conformation polymorphism approach, followed by direct DNA sequencing in 22 Uighur and 13 Han women with early-onset sporadic breast cancer, and 32 women with benign breast diseases. The prevalence of BRCA1 mutations in this population was 22.9% (8/35) among early-onset sporadic breast cancer cases. Of these, 31.8% (7/22) of Uighur patients and 7.69% (1/13) of Han patients were found to have BRCA1 mutations. In 7 Uighur patients with BRCA1 mutations, there were 11 unique sequence alterations in the BRCA1 gene, including 4 clearly disease-associated mutations on exon 11 and 3 variants of uncertain clinical significance on exon 11, meanwhile 4 neutral variants on intron 20 or 2. None of the 11 BRCA1 mutations identified have been previously reported in the Breast Cancer Information Core database. These findings reflect the prevalence of BRCA1 mutations in Uighur women with early-onset and sporadic breast cancer, which will allow for provision of appropriate genetic counseling and treatment for Uighur patients in the Xinjiang region.

Ulmus Macrocarpa Water Extract Prolongs Splenocyte Life Span (Ulmus Macrocarpa 열수 추출물에 의한 비장세포 수명 연장)

  • Kang, Kyung-Hwa;Hyun, Sook Kyung;Hwang, Hye Jin;Kim, Byoung Woo;Kim, Cheol Min;Chung, Kyung Tae;Lee, Jong-Hwan
    • Journal of Life Science
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    • v.25 no.10
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    • pp.1176-1183
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    • 2015
  • Ulmus macrocarpa has been used in Korean medicinal food material to physical disorder or tonic material. The purpose of the present study was to evaluate splenocyte life span expansion effects of Ulmus macrocarpa water extract (UMWE) in general cell culture condition. Splenocytes were handled in the presence of 100 μg/ml UMWE for several different time conditions. Live cells were detected with Hoechst 33,342 dye and cell survival molecules were identified through Western blot. Changes in level of cytokine synthesis were evaluated by ELISA. UMWE showed an effect on increased splenocyte survival. UMWE elevated slightly PI3K phosphorylation and ERK1/2 phosphorylation used at 48 hr and 96 hr. Moreover, Bcl-2 was elevated at 48 hr and 96 hr in UMWE-treated splenocytes. UMWE decreased caspase-3 level at 48 hr and 96 hr. ICAD protein increased at 48 hr culturing time. Hematopoietin IL-2 cytokine was down-regulated, however IL-4 hematopoietin cytokine was up-regulated in UMWE treated cell culture media. Increased IFN-γ levels were verified in the supernatant of UMWE-treated cells in all periods (48 hr and 96 hr). Increased patterns in the production of IL-12 cytokine occurred as compared with control after 48 and 96 hr in UMWE-treated-cell cultures. These results suggested that UMWE can prolong splenocyte life span by controlling various signal factors and cytokines.

Diffuse Nodular Interstitial Infiltrations with Bilateral Hilar Lymphadenopathy (양측 폐문 림프절 종대를 동반한 간질성 결절성 폐침윤)

  • Yoon, Jae Ho;Yeo, Chang Dong;Shin, Eun Joong;Song, So Hyang;Kim, Chi Hong;Moon, Hwa Sik;Song, Jeong Sup;Park, Sung Hak
    • Tuberculosis and Respiratory Diseases
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    • v.61 no.3
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    • pp.294-298
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    • 2006
  • Lymphocytic interstitial pneumonia(LIP) is an uncommon condition in which the alveolar septa and extra-alveolar interstitial space are markedly expanded by small lymphocytes, plasma cells and histiocytes. Chest radiographs generally show nonspecific patterns with the most common pattern showing bibasilar reticular or reticulonodular infiltrates. Hilar or mediastinal lymphadenopathy and pleural effusions are usually absent. We encountered a 42-year-old female patient who was admitted to hospital because of exertional dyspnea and palpitation. The chest X-ray showed an enlarged bilateral hilar shadow and diffusely increased bronchovascular markings in both lung fields. The chest CT showed diffuse nodular infiltrations with mild septal thickening and combined patchy ground glass opacity in both lungs, and conglomerated mediastinal and bilateral hilar lymphadenopathy. A diagnosis of LIP was made from the tissue pathology taken by a thoracoscopic lung biopsy. The patient showed clinical and radiographic improvement after 3 months of treatment with prednisolone. We report a case of LIP presenting as diffuse nodular interstitial infiltrations with multiple mediastinal and bilateral hilar lymphadenopathy.

Study on the Detection of Anti-Sperm Antibodies in Zygote Intra Fallopian Transfer (ZIFT) Patients with Fertilization Failure or Low Fertilization Rate and Retreatment of Oocyte and Sperm (접합자 난관내 이식 환자에 있어서 수정 실패와 항정자 항체와의 관계 및 난자와 정자의 재처리에 관한 연구)

  • Chung, M.K.;Ko, J.J.;Do, B.R.;Koo, J.J.;Han, S.Y.;Cha, K.Y.
    • Clinical and Experimental Reproductive Medicine
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    • v.19 no.2
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    • pp.169-174
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    • 1992
  • Previous studies have indicated that immunological factor is responsible for the infertility. We have detected sperm antibodies in ZIFT patients which grouped as fertilization failure (A; n=18) and low fertilization rate (${\leq}50%$)(B; n=20). Patients, however, had normal oocytes and sperms. We collected serum from wives and semen from husbands and donors (fertile sperm), if it was needed. We examined class, binding patterns and amounts of antisperm antibodies(ASA) by direct and indirect immunobead binding assay. In group A, 11 husbands were ASA positive showing 62.2% and 61.1% binding with IgA and IgG, respectively, and two wives were ASA positive showing 70.0% and 71.0% binding with IgA and IgG, respectively. Binding sites were mainly at the head of sperms (84%). In group B, 8 husbands were ASA positive showing 37.5% and 40.0% binding with IgA and IgG, respectively, and two wives were ASA positive showing 41.3% and 42.0% binding with IgA and IgG, respectively. Binding sites were also mainly at the head of sperms (78%). For the treatment of ZIFT patients who had fertilization failure at the first trial, we used albumin fractionation method and dilution method with 30% fetal cord serum (FCS) to reduce the titer of ASA. We used partial zona dissection (P.Z.D.) method for wives who have antisperm antibodies in their serum. According to represented method, we could inhance the fertilization rate to 60.0% by albumin fractionation and 20.0% by P.Z.D., respectively. We concluded that the use of micromanipulation like P.Z.D. or the other sperm processing methods is required to increase a chance of fertilization. This result suggested that it should be a prerequisite to test antisperm antibodies prior to entering assisted reproductive technologies (ART) programs.

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Effect of Magnesium Ion in the Culture Medium on the Development of Preimplantation Mouse Embryos In Vitro (배양액 내의 마그네슘 이온이 생쥐 초기 배아 발생에 미치는 영향)

  • Choi, Soo-Jin;Jun, Jin-Hyun;Park, Yong-Seog;Bae, In-Ha
    • Clinical and Experimental Reproductive Medicine
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    • v.28 no.3
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    • pp.199-207
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    • 2001
  • Objective: The present study was undertaken to examine the effects of magnesium ion in the culture medium on the development of mouse fertilized oocytes either before or after pronuclear formation, and to investigate whether the effect of magnesium ion is related with the redistributional change of mitochondria. Methods : Fertilized oocytes obtained from the oviducts of mice at 15 hr after hCG injection before pronuclear formation (pre-PN) or 21 hr after hCG injection after pronuclear formation (post-PN) were used. The embryos were cultured for 3 days with basic T6 medium-magnesium free and various concentrations of magnesium ion, 0.0, 0.5, 1.0, 2.0, 4.0 or 8.0 mM, respectively. After culture, the developmental stages of embryos and the number of nuclei were evaluated. To observe the effects of magnesium ion on the mitochondrial distribution, fertilized oocytes were collected at 21 hr after hCG injection and cultured for 6 hr with various concentration of magnesium ion. As a control, fertilized oocytes with pronuclei at 27 hr after hCG injection were used. Results: The concentration of magnesium ion to accelerate the in vitro development of mouse fertilized oocytes appeared to be at 2.0 mM for the pre-PN and the post-PN stage embryos. In the mitochondrial redistribution patterns, the embryos cultured in 2.0 mM concentration of magnesium ion showed the highest percentage (22.6%) of distinct perinuclear clustering pattern comparing to other experimental group. Conclusion: The effect of magnesium ion may be related to the cytoplasmic redistribution of mitochondria. This relationship seems to connect the developmental competence of preimplantation mouse embryos in vitro. These results can suggest that higher concentration of magnesium ion (2.0 mM) than those of conventional culture medium ($0.2{\sim}1.2\;mM$) is more suitable for in vitro culture of preimplantation mouse embryos.

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Alteration of Gene Expressions in Human Endometrial Stromal Cells by Exogeneous FSH Treatments (난포자극호르몬이 인간의 자궁 기질세포의 유전자 발현 양상에 미치는 영향)

  • Choi, Hye-Won;Jun, Jin-Hyun;Lee, Hyoung-Song;Hong, In-Sun;Kang, Kyung-Sun;Koong, Mi-Kyoung
    • Clinical and Experimental Reproductive Medicine
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    • v.31 no.4
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    • pp.217-223
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    • 2004
  • Objective: To evaluate the effects of recombinant FSH (rFSH) and urinary FSH (uFSH) on the gene expressions of human endometrial stromal cells in vitro. Methods: Endometrial tissue was obtained from a pre-menopausal women undergoing hysterectomy. Primary endometrial stromal cells were isolated and in vitro cultured with FBS-free DMEM/F-12 containing 0, 10, 100, and 1, 000 mIU/ml of rFSH and uFSH for 48 hours, respectively. Total RNA was extracted from the cultured cells and subjected to real time RT-PCR for the quantitative analysis of progesterone receptor (PR), estrogen receptor $\alpha/\beta$ (ER-$\alpha/\beta$), cyclooxygenase 2 (Cox-2), leukemia inhibitory factor (LIF), homeobox A10-1 and -2 (HoxA10-1/-2). Results: Both hormone treatments slightly increased (< 3 folds) the expressions of PR, ER-$\beta$ and HoxA10-1/-2 gene. However, ER-$\alpha$ expression was increased up to five folds by treatments of both FSH for 48 hours. The LIF expression by the 10 mIU/ml of uFSH for 12 hours was significantly higher than that of rFSH (p<0.01). After 24 hours treatment of two kinds of hormones, the expression patterns of LIF were similar. The 100 and 1, 000 mIU/ml of rFSH induced significantly higher amount of Cox-2 expression than those of uFSH, respectively (p<0.05). Conclusion: This study represents no adversely effect of exogeneous gonadotropins, rFSH and uFSH, on the expression of implantation related genes. We suggest that rFSH is applicable for the assisted reproductive technology without any concern on the endometrial receptivity.

Provisional National Nutrition Targets and Strategies for Health Promotion of Koreans (국민건강증진을 위한 영양 부문의 2000년 잠정목표와 전략)

  • 김혜련
    • Korean Journal of Community Nutrition
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    • v.1 no.2
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    • pp.161-177
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    • 1996
  • This study attempts to propose a priority of national nutrition targets and strategies for health promotion by the year 2000 in Korea, as a part of the task set for national health promotion objectives and strategies. Among all of the important health issues raised, ten were chosen, nutrition was one priority area. In the first part, the current status of the nutrition-related health problems and risk factors are reviewed, in conjunction with the newly arisen health phenomena, such as changes in prevalence of lifestyle disease and causes of death, changes of food consumption patterns in our country. In the second section this study suggests six feasible national nutrition targets, eight implementing strategies and current major tasks on the basis of the assessment of present status and in consideration of the other health promotion goals and strategies, with reference to that of other developed countries. The main targets and strategies are suggested as follows ; Firstly, the national nutrition monitoring and surveillance system should be established for identifying the nutritional problems for our people, and current National Nutrition Survey is a strong need for improvement to a more comprehensive and reliable one. Secondly, effective administrative mechanism should be operation at national level for the development of nutrition policy. Ministry of Health and Welfare (MOHW) as well as local health department must be remarkably renewed and strengthened the nutrition section. And it is recommended that MOHW organize and operate “The Council of Nutrition”, in which all government authorities related with foodstuffs and nutrition would incorporated. The Council of Nutrition would act as an adjustor as well as a coordinator in nutrition related policy-making. Thirdly, healthy eating pattern will be supported by activities of introducing a nutrition labeling for providing consumers with the necessary information and skills for food selection. Fourthly, nutrition education, and nutrition intervention programs will be carried out in various settings such as health centers, schools, and clinical fields and workplace. Fifthly, the current dietary guidelines shall be continuously improved in detail, and publicly circulated to particular levels of people by age group and by health condition. And finally, researches and epidemiological studies particularly in regard to diet for development of chronic diseases are needed for more investigation and up-to-date national health and nutrition data should be collected with the support and cooperation from the various medical professional teams . (Korean J Community Nutrition 1(2) : 161-177, 1996)

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Thallium-201 Perfusion Scan in Peripheral Arterial Disease (말초성 동맥 질환에 있어서 $^{201}T1$을 이용한 말초혈관 관류스캔의 유용성)

  • Nah, Jung-Il;Woo, In-Sook;Kim, Deog-Yoon;Koh, Eun-Mi;Kim, Jin-Woo;Kim, Young-Seol;Kim, Kwang-Won;Choi, Young-Kil
    • The Korean Journal of Nuclear Medicine
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    • v.25 no.2
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    • pp.192-199
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    • 1991
  • Peripheral arterial disease, because of it's significant and prolonged morbidity and related mortality is a major medical and surgical problem. Contrast angiogram remains the essential standard for the anatomic demonstration of disease. It does not, however, provide data suitable for quantification or any evaluation of the microcirculation. For these reasons, radionuclide studies are playing an increasingly important role by not only confirming the diagnosis and offering objective data on the physiologic significance of anatomic lesions, but by offering prognosis of healing and prediction of therapeutic results. In addition, radionuclide procedures offer means to safely and repeatedly monitor response to therapy and long term follow up. The object of this study was to evaluate the clinical availability of $^{201}T1$ perfusion scan in patients with peripheral arterial diseases. We performed $^{201}T1$ perfusion scans in patients with five Buerger' s disease (10 legs), six DM gangrenes (12 legs) and classified three perfusion pattern groups. Finally we compared treatment modalities among each groups and compaired T1-201 perfusion scan findings with angiographic findings in six patients with Buerger's disease. The results were as follows: 1) Seven legs showed increased perfusion in stress image and normal or increased perfusion in resting image (type 1). Six legs showed decreased perfusion in stress image and improved in resting image (type II). Of total 13 legs, only 1 leg needed to amputation. 2) Three legs showed decreased perfusion in stress and resting image (type III), and subsequently all cases were received surgical amputation. 3) In six Buerger's disease patients, there were disagreements in two patients (2 legs) between $^{201}T1$ scan and angiography, in which angiograms were normal but $^{201}T1$ scans showed 'type II' perfusion patterns.

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Molecular and cytogenetic findings in 46,XX males

  • Choi, Soo-Kyung;Kim, Young-Mi;Seo, Ju-Tae;Kim, Jin-Woo;Park, So-Yeon;Moon, In-Gul;Ryu, Hyun-Mee;Kang, Inn-Soo;Lee, You-Sik
    • Journal of Genetic Medicine
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    • v.2 no.1
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    • pp.11-15
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    • 1998
  • This paper reports 3 cases with 46,XX sex reversed male. Three 46,XX hypogonadal subjects showed complete sex reversal and had normal phallus and azoospermia. We studied them under clinical, cytogenetic and molecular aspects to find out the origin of the sex reversal. Patients had markedly elevated serum follicle-stimulating hormone (FSH) and lutenizing hormone (LH) and decreased or normal range of serum testosterone. The testicular volumes were small (3-8ml). Testicular biopsy showed Leydig cell hyperplasia and atrophy of seminiferous tubules. We obtained the results of normal 46,XX, and the presence of Y chromosome mosaicism was ruled out through XY dual fluorescent in situ hybridization (FISH). By using polymerase chain reaction (PCR), we amplified short arm (SRY, PABY, ZFY and DYS14), centromere (DYZ3), and heterochromatin (DYZ1) region of the Y chromosome. PCR amplification of DNA from these patients showed the presence of the sex-determining region of the Y chromosome (SRY) but didn't show the centromere and heterochromatin region sequence. The SRY gene was detected in all the three patients. Amplification patterns of the other regions were different in these patients; one had four amplified loci (PABY+, SRY+, ZFY+, DYS14+), another had two loci (SRY+, ZFY+) and the other had two loci (PABY+, SRY+). We have found that each patient's translocation elements had different breakpoints at upstream and downstream of the SRY gene region. We conclude that the testicular development in 46,XX male patients were due to insertion or translocation of SRY gene into X chromosome or autosomes.

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Rapid Molecular Diagnosis using Real-time Nucleic Acid Sequence Based Amplification (NASBA) for Detection of Influenza A Virus Subtypes

  • Lim, Jae-Won;Lee, In-Soo;Cho, Yoon-Jung;Jin, Hyun-Woo;Choi, Yeon-Im;Lee, Hye-Young;Kim, Tae-Ue
    • Biomedical Science Letters
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    • v.17 no.4
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    • pp.297-304
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    • 2011
  • Influenza A virus of the Orthomyxoviridae family is a contagious respiratory pathogen that continues to evolve and burden in the human public health. It is able to spread efficiently from human to human and have the potential to cause pandemics with significant morbidity and mortality. It has been estimated that every year about 500 million people are infected with this virus, causing about approximately 0.25 to 0.5 million people deaths worldwide. Influenza A viruses are classified into different subtypes by antigenicity based on their hemagglutinin (HA) and neuraminidase (NA) proteins. The sudden emergence of influenza A virus subtypes and access for epidemiological analysis of this subtypes demanded a rapid development of specific diagnostic tools. Also, rapid identification of the subtypes can help to determine the antiviral treatment, because the different subtypes have a different antiviral drug resistance patterns. In this study, our aim is to detect influenza A virus subtypes by using real-time nucleic acid sequence based amplification (NASBA) which has high sensitivity and specificity through molecular beacon. Real-time NASBA is a method that able to shorten the time compare to other molecular diagnostic tools and is performed by isothermal condition. We selected major pandemic influenza A virus subtypes, H3N2 and H5N1. Three influenza A virus gene fragments such as HA, NA and matrix protein (M) gene were targeted. M gene is distinguished influenza A virus from other influenza virus. We designed specific primers and molecular beacons for HA, NA and M gene, respectively. In brief, the results showed that the specificity of the real-time NASBA was higher than reverse transcription polymerase chain reaction (RT-PCR). In addition, time to positivity (TTP) of this method was shorter than real-time PCR. This study suggests that the rapid detection of neo-appearance pandemic influenza A virus using real-time NASBA has the potential to determine the subtypes.