Abstract:
:Multiple epiphyseal dysplasia is caused by heterogeneous genotypes involving more than six genes. Recessive mutations in the DTDST gene cause a phenotype of recessive multiple epiphyseal dysplasia (rMED). The authors report a 9-yr old Korean girl with the rMED phenotype having novel compound heterozygous mutations in the DTDST gene, which were inherited from both parents. This is the first Korean rMED case attributed to DTDST mutations, and expands the spectrum of diseases caused by DTDST mutations.
journal_name
J Korean Med Scijournal_title
Journal of Korean medical scienceauthors
Cho TJ,Kim OH,Lee HR,Shin SJ,Yoo WJ,Park WY,Park SS,Cho SI,Choi IHdoi
10.3346/jkms.2010.25.7.1105subject
Has Abstractpub_date
2010-07-01 00:00:00pages
1105-8issue
7eissn
1011-8934issn
1598-6357journal_volume
25pub_type
杂志文章abstract::This study was undertaken to evaluate the incidence and risk factors associated with relative adrenal insufficiency (RAI) in Korean critically-ill patients. All patients who were admitted to the Medical Intensive Care Unit (MICU) of Samsung Medical Center between January 1, 2006 and April 30, 2007 were prospectively e...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
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更新日期:2009-08-01 00:00:00
abstract::It has been suggested that there is an association between environmental, low-level arsenic exposure and the risk of diabetes mellitus (DM), but little research has been conducted. Here, the glucose tolerance status and urinary creatinine adjusted total arsenic concentrations were analyzed in 3,602 subjects ≥ 20 yr of...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
doi:10.3346/jkms.2013.28.6.861
更新日期:2013-06-01 00:00:00
abstract:BACKGROUND:Meniscus surgeries are frequently performed in orthopaedics. However, their current status is not well known in many countries, including Korea. This study aimed to investigate the national trends of meniscus surgery in Korea. METHODS:Information from the national database was acquired through the Korean He...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
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更新日期:2019-08-19 00:00:00
abstract::Breast cancer ranks second or third to uterine cervix cancer and stomach cancer as a cause of death in women, and as a common site of primary cancer. The large difference in its incidence between Westernized and non-Westernized countries is remarkable. There is a linear increase with age that is observed in Western co...
journal_title:Journal of Korean medical science
pub_type: 杂志文章,评审
doi:10.3346/jkms.2002.17.1.1
更新日期:2002-02-01 00:00:00
abstract::The safety of accelerated schedules of allergen immunotherapy (ASAI) in patients with bronchial asthma (BA) has been reported but there are little data on the safety of ASAI for patients with atopic dermatitis (AD). In this study, we investigated the safety of ASAI in patients with AD. Sixty patients with AD and 18 pa...
journal_title:Journal of Korean medical science
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更新日期:2011-09-01 00:00:00
abstract::Childhood kidney tumors seldom metastasize into the cranial cavity unless it is a special histological variant. We report a 4-year-old boy with multiple intracranial metastases in the left parietotemporal and right cerebellar area from primary clear cell sarcoma of the kidney without evidence of bony metastases. Metas...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
doi:10.3346/jkms.1997.12.5.473
更新日期:1997-10-01 00:00:00
abstract::Cystic hypersecretory lesions of the breast are rare. These breast lesions include cystic hypersecretory hyperplasia (CHH), atypical CHH, and cystic hypersecretory carcinoma (CHC). The characteristic features are dilated ducts and cysts filled with thyroid colloid-like eosinophilic secretion. Only seven cases of invas...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
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abstract::This study was undertaken to compare renal damage, as determined by serum creatinine and degree of apoptosis, caused by iodinated contrast or gadolinium in an acute renal failure (ARF) rat model. Rats were divided into three groups; controls (n=3), a CT contrast medium group (n=9), and an MR contrast medium group (n=9...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
doi:10.3346/jkms.2005.20.5.841
更新日期:2005-10-01 00:00:00
abstract::Histiocytic sarcoma (HS) is a very rare neoplasm that often shows an aggressive clinical course and systemic symptoms, such as fever, weight loss, adenopathy, hepatosplenomegaly and pancytopenia. It may present as localized or disseminated disease. We describe here a 63-yr-old male who manifested systemic symptoms, in...
journal_title:Journal of Korean medical science
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doi:10.3346/jkms.2010.25.2.313
更新日期:2010-02-01 00:00:00
abstract::A series of five endodermal sinus tumors was studied for their cytoskeletal and other phenotypic markers. They included 2 ovarian, 2 testicular, and 1 inguinal tumors. The cytoskeletal expression was also studied by gel electrophoresis and immunoblotting. Every tumor was diffusely and strongly immunostained for cytoke...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
doi:10.3346/jkms.1994.9.2.93
更新日期:1994-04-01 00:00:00
abstract::A mediastinal mass was incidentally found on chest radiography in a 46-yr-old woman who had had myasthenia gravis (MG) for 2 months. Computed tomography revealed a 4-cm in size, well-defined, and lobulating mass with nodular calcification that was located in the thymus. Microscopically, the mass consisted of diffuse a...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
doi:10.3346/jkms.2014.29.1.145
更新日期:2014-01-01 00:00:00
abstract::Neuronal migration disorders (NMDs) constitute the main pathologic substrate of medically intractable epilepsy in human. This study is designed to investigate the changes in expression of glutamate receptor subtypes on radiation-induced NMD in rats. The lesion was produced by intrauterine irradiation (240 cGy) on E17 ...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
doi:10.3346/jkms.2004.19.3.419
更新日期:2004-06-01 00:00:00
abstract::In patients with chronic hepatitis C virus disease, there is a high incidence of development of hepatocellular carcinoma (HCC) in the process of transition from chronic hepatitis to hepatic cirrhosis. Although ginseng traditionally has been used mainly as a nutritional supplement in Asian countries, a case-control stu...
journal_title:Journal of Korean medical science
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.3346/jkms.2001.16.S.S70
更新日期:2001-12-01 00:00:00
abstract::Telomerase play a key role in the maintenance of telomere length and chromosome integrity. We have evaluated the association between telomerase activity and the risk of lung cancer in peripheral blood. Telomerase activity in peripheral blood mononuclear cells was measured by a PCR-designed telomeric repeat amplificati...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
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abstract::Drug rash with eosinophilia and systemic symptoms (DRESS) syndrome associated with anticonvulsant drugs is a rare but potentially life-threatening disease that occurs in response to arene oxide producing anticonvulsant such as phenytoin and carbamazepine. There have been many reports of cross reactivity among the anti...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
doi:10.3346/jkms.2006.21.4.768
更新日期:2006-08-01 00:00:00
abstract::Maspin is a unique serine proteinase inhibitor that has tumor suppressor activity. It has been reported that maspin is expressed in normal human mammary epithelial cells and it is down-regulated during the progression of cancer. However, to date, there is very limited data on the clinical significance of maspin expres...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
doi:10.3346/jkms.2006.21.2.309
更新日期:2006-04-01 00:00:00
abstract::Thirty-six cases of necrotizing lymphadenitis--including 33 cases of unknown etiology, 1 typhoid lymphadenopathy, and 2 cases of suspicious lupus lymphadenopathy--were clinico-pathologically reviewed and analyzed with immunostaining for s-100 and lysozyme. All cases histologically showed architectural effacement by pa...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
doi:10.3346/jkms.1991.6.1.55
更新日期:1991-03-01 00:00:00
abstract::The cloning and sequencing of thyroid-stimulating hormone (TSH) receptor (TSHR), combined with advances in molecular techniques, have facilitated the understanding of the interaction of the TSHR antibodies (TSHRAbs) with the TSHR at the molecular level and have allowed the delineation of their clinical role. TSHRAbs i...
journal_title:Journal of Korean medical science
pub_type: 杂志文章,评审
doi:10.3346/jkms.2002.17.3.293
更新日期:2002-06-01 00:00:00
abstract::Transverse myelitis (TM) extending from midbrain to the entire spinal cord accompanied by internuclear ophthalmoplegia is extremely rare but cause serious central nervous system complications in patients with systemic lupus erythematosus. We report a case of a 28-yr-old woman with TM extending from the midbrain to the...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
doi:10.3346/jkms.2005.20.6.1085
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journal_title:Journal of Korean medical science
pub_type: 杂志文章
doi:10.3346/jkms.1988.3.3.99
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journal_title:Journal of Korean medical science
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abstract::Smoking is associated with poor symptom control and impaired therapeutic responses in asthma. A total of 843 patients with asthma were recruited. The patients received treatment for 1 yr according to the severity of their asthma. We compared the forced expiratory volume in 1 sec (FEV1), the ratio of FEV1 to forced vit...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
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journal_title:Journal of Korean medical science
pub_type: 杂志文章
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更新日期:2006-10-01 00:00:00
abstract::We describe a 51-yr-old man presenting with syncope due to torsade de pointes. The torsade de pointes was refractory to conventional medical therapy, including infusion of isoproterenol, MgSO4, potassium, lidocaine, and amiodarone. His past history, physical findings, and hormone study confirmed that QT prolongation w...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
doi:10.3346/jkms.2001.16.3.355
更新日期:2001-06-01 00:00:00
abstract::We describe a 37-yr-old man who developed central pontine myelinolysis (CPM) after allogeneic hematopoietic stem cell transplantation (HSCT) for acute lymphoblastic leukemia. After HSCT, desquamation developed on the whole body accompanied by hyperbilirubinemia. The liver biopsy of the patient indicated graft-versus-h...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
doi:10.3346/jkms.2008.23.2.324
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abstract::Congenital insensitivity to pain with anhidrosis (CIPA) is a very rare genetic disorder of the peripheral nervous system characterized by recurrent episodes of unexplained fever, generalized anhidrosis, insensitivity to pain and temperature, and accompanied by self-mutilating behavior and mental retardation. We report...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
doi:10.3346/jkms.1999.14.4.460
更新日期:1999-08-01 00:00:00
abstract::Aim of this study was to compare the outcomes of transplantation by donor source and to help select the best alternative donor in children with leukemia. Donor sources included matched related donor (MRD, n = 35), allele-matched unrelated donor (M-UD, n = 10) or -mismatched (MM)-UD (n = 13) or unrelated umbilical cord...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
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更新日期:2011-12-01 00:00:00
abstract::Glioblastoma (GBM) can be classified into molecular subgroups, on the basis of biomarker expression. Here, we classified our cohort of 163 adult GBMs into molecular subgroups according to the expression of proteins encoded by genes of alpha thalassemia/mental retardation syndrome X-linked (ATRX), isocitrate dehydrogen...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
doi:10.3346/jkms.2016.31.8.1208
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abstract::Previous studies have suggested that the Gly460Trp polymorphism of the alpha-adducin gene (ADD-1) is associated with salt sensitivity and primary hypertension. The results of linkage or association studies of ADD-1 of different populations are controversial. This study investigated the relationship between the Gly460T...
journal_title:Journal of Korean medical science
pub_type: 临床试验,杂志文章
doi:10.3346/jkms.2004.19.6.812
更新日期:2004-12-01 00:00:00
abstract::The efficacy of antibiotic prophylaxis in radical prostatectomy (RP) remains to be established. We retrospectively compared the occurrence of perioperative infections after RP between the 2 different antibiotic protocols. This study involved 428 cases of laparoscopic radical prostatectomy (LRP). After excluding patien...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
doi:10.3346/jkms.2017.32.6.1009
更新日期:2017-06-01 00:00:00