Abstract：
:Protein C is the central component of a major anti-thrombotic regulatory system and individuals with hereditary protein C deficiency (PCD) tend to have an increased risk of thromboembolism. During the last several years, mutations causing PCD have been identified in Western countries and in Japanese. In the present study, we report a case of hereditary PCD with a missense mutation (C6218T) in a 44 year old female with recurrent pulmonary thromboembolism. The protein C activity (35%) and antigen (58%) levels in this patient were decreased. Furthermore, we have identified the same molecular defect and PCD in other asymptomatic family members including proband's mother and two daughters and one son. To our knowledge, this is the first case of hereditary PCD with identified genetic defect in the Korean population, which may be one of hot spots for mutation in the protein C gene.
journal_name
J Korean Med Scijournal_title
Journal of Korean medical scienceauthors
Song KS,Park YS,Choi CR,Kim HK,Park Q,Kim HSdoi
10.3346/jkms.1998.13.2.186subject
Has Abstractpub_date
1998-04-01 00:00:00pages
186-90issue
2eissn
1011-8934issn
1598-6357journal_volume
13pub_type
杂志文章abstract：:Fifteen cases of papillary cystic tumor of the pancreas (PCTP) were studied (14 female patients, one male patient; mean age: 23.5 years). Most tumors developed in the head of the pancreas as a well circumscribed large mass. The tumor had a mean diameter of 6.7 cm(range; 2 to 15 cm). Histopathologically abundant delica...
journal_title：Journal of Korean medical science
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journal_title：Journal of Korean medical science
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journal_title：Journal of Korean medical science
pub_type： 杂志文章
doi：10.3346/jkms.2006.21.2.358
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journal_title：Journal of Korean medical science
pub_type： 杂志文章,多中心研究,随机对照试验
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journal_title：Journal of Korean medical science
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journal_title：Journal of Korean medical science
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journal_title：Journal of Korean medical science
pub_type： 杂志文章
doi：10.3346/jkms.2006.21.4.724
更新日期：2006-08-01 00:00:00
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journal_title：Journal of Korean medical science
pub_type： 杂志文章
doi：10.3346/jkms.2005.20.3.509
更新日期：2005-06-01 00:00:00
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journal_title：Journal of Korean medical science
pub_type： 杂志文章
doi：10.3346/jkms.2017.32.10.1581
更新日期：2017-10-01 00:00:00
abstract：:This study was performed to determine the incidence and serogroups of meningococcal disease in the Korean Army. From August 2000 to July 2001, we identified prospective cases in the Korean Army. Meningococcal disease was confirmed by isolation of Neisseria meningitidis or detection of its antigen by latex agglutinatio...
journal_title：Journal of Korean medical science
pub_type： 杂志文章
doi：10.3346/jkms.2003.18.2.163
更新日期：2003-04-01 00:00:00
abstract：:This study aimed to investigate whether the demographic variable-adjustment and supplementation of Frontal Assessment Battery (FAB) score can improve the screening ability of Mini-Mental State Examination (MMSE) for dementia and its subtypes. Five hundred forty-one non-demented comparison (NC) and 474 dementia (320 Al...
journal_title：Journal of Korean medical science
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journal_title：Journal of Korean medical science
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journal_title：Journal of Korean medical science
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journal_title：Journal of Korean medical science
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journal_title：Journal of Korean medical science
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journal_title：Journal of Korean medical science
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journal_title：Journal of Korean medical science
pub_type： 杂志文章
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abstract：:Despite the increasing use of the rectal balloon in prostate cancer radiotherapy, many issues still remain to be verified objectively including its positional reproducibility and relevance to treatment morbidity. We have developed a custom rectal balloon that has a scale indicating the depth of insertion and dilates s...
journal_title：Journal of Korean medical science
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