Abstract:
:X-linked hyper-IgM syndrome (XHIM) is a rare primary immunodeficiency disorder, caused by mutations of the gene encoding CD40 ligand (CD40L; CD154). We report the clinical manifestations and mutational analysis of the CD40L gene observed in a male patient from a XHIM family. Having hypogammaglobulinemia and elevated IgM, the 3-yr-old boy exhibited the characteristic clinical features of XHIM. The patient suffered from frequent respiratory infections, and chronic enteritis caused by Cryptosporidium parvum. In addition, a lymph node biopsy and a culture from this sample revealed C. neoformans infection. Activated lymphocytes from the patient failed to express CD40L on their surface as assessed by flow cytometry and a missence mutation (W140R) was found at the XHIM hotspot in his CD40L cDNA to confirm the diagnosis. Genetic analysis of the mother and sister showed a heterozygote pattern, indicating carrier status. To our knowledge, this is the first report on the molecular diagnosis of an XHIM patient in Korea.
journal_name
J Korean Med Scijournal_title
Journal of Korean medical scienceauthors
Jo EK,Kim HS,Lee MY,Iseki M,Lee JH,Song CH,Park JK,Hwang TJ,Kook Hdoi
10.3346/jkms.2002.17.1.116keywords:
subject
Has Abstractpub_date
2002-02-01 00:00:00pages
116-20issue
1eissn
1011-8934issn
1598-6357pii
200202116journal_volume
17pub_type
杂志文章abstract::The rapid increases in childhood obesity and physical inactivity are linked to the incidence of diabetes among young individuals. However, few studies have evaluated the prevalence of diabetes among this population. Therefore, we used Korea National Health and Nutrition Examination Survey (KNHANES) data to evaluate th...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
doi:10.3346/jkms.2017.32.12.1984
更新日期:2017-12-01 00:00:00
abstract::We investigated the association between socioeconomic status and hypertension in Korea, a country that has experienced a dynamic socioeconomic transition. We analyzed participants of a prospective cohort study-the Korean Genome and Epidemiology Study-enrolled between 2001 and 2003. We recruited 7,089 subjects who unde...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
doi:10.3346/jkms.2016.31.12.1922
更新日期:2016-12-01 00:00:00
abstract::Initially, acute loss of smell (anosmia) and taste (ageusia) was not considered important symptoms for coronavirus disease 2019 (COVID-19). To determine the prevalence of these symptoms and to evaluate their diagnostic significance, we (approximately 150 physicians of the Daegu Medical Association) prospectively colle...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
doi:10.3346/jkms.2020.35.e174
更新日期:2020-05-11 00:00:00
abstract::An animal model of spinal cord trauma is essential for understanding the injury mechanisms, cord regeneration, and to aid the development of new therapeutic modalities. This study focused on the development of a graded experimental contusion model for spinal cord injury (SCI) using a pneumatic impact device made in Ko...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
doi:10.3346/jkms.2004.19.4.574
更新日期:2004-08-01 00:00:00
abstract::Septic arthritis and gout are major diseases that should be suspected in patients with acute monoarthritis. These two diseases are clinically similar and often indistinguishable without the help of synovial fluid analysis. Recently, a novel diagnostic rule for gout without synovial fluid analysis was developed and sho...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
doi:10.3346/jkms.2015.30.6.700
更新日期:2015-06-01 00:00:00
abstract::To establish the early morphogenetic mechanism in retinoid induced cardiac lesions, we investigated the morphology of the heart in cultured rat embryos treated with retinoic acid (RA) at 9.0 and 9.5 days post coitum (d.p.c). Wistar rat embryos were treated with RA (2 x 10(-7) M) for 6 hours from the embryonic day equi...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
doi:10.3346/jkms.1998.13.2.117
更新日期:1998-04-01 00:00:00
abstract::Congenital adrenal insufficiency is caused by specific genetic mutations. Early suspicion and definite diagnosis are crucial because the disease can precipitate a life-threatening hypovolemic shock without prompt treatment. This study was designed to understand the clinical manifestations including growth patterns and...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
doi:10.3346/jkms.2013.28.11.1650
更新日期:2013-11-01 00:00:00
abstract:BACKGROUND:Few studies have reported on breakthrough urinary tract infection (UTI) associated with the susceptibility of index UTI to prophylactic antibiotics in children with primary vesicoureteral reflux (VUR) receiving continuous antibiotic prophylaxis (CAP). We assessed the impact of the susceptibility of index UTI...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
doi:10.3346/jkms.2019.34.e156
更新日期:2019-06-02 00:00:00
abstract::The Rejuran® is a new filler product made from purified polynucleotides. Here we present data from an animal study and a clinical trial to examine the durability, efficacy and safety of the Rejuran® on crow's feet. For the animal study, 25 mice were divided into three groups: Group 1 received phosphate buffered saline...
journal_title:Journal of Korean medical science
pub_type: 杂志文章,随机对照试验,收录出版
doi:10.3346/jkms.2014.29.S3.S201
更新日期:2014-11-01 00:00:00
abstract:Background:In this prospective cohort study, we investigated the association between fatty acid ethyl esters (FAEEs) in meconium as biomarkers of prenatal ethanol exposure and growth deficits, as birth outcomes, that constitute several of the key cardinal features of fetal alcohol syndrome. Methods:A total of 157 meco...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
doi:10.3346/jkms.2018.33.e318
更新日期:2018-11-15 00:00:00
abstract:BACKGROUND:The coronavirus disease 2019 (COVID-19) outbreak has exposed healthcare workers to extreme physical workloads and psychological challenges. Thus, we aimed to assess the immediate correlates of emotional stress and to identify which specific jobs, departments, and exposure types are risk factors for emotional...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
doi:10.3346/jkms.2020.35.e372
更新日期:2020-10-26 00:00:00
abstract::The fetus is an unstable subject for an isolated physiological and biochemical study. To study the fetus in a controlled and stable environment, a trial was done using 12 goat fetuses. Extrauterine incubation system was devised using an extracorporeal membrane oxygenation system. The system consisted of a venous reser...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
doi:10.3346/jkms.2002.17.5.663
更新日期:2002-10-01 00:00:00
abstract::The aim of this study was to develop a new simple method for measuring the vaporized volume and to evaluate the outcome of high-power potassium-titanyl-phosphate (KTP) photoselective laser vaporization. A total of 65 patients, with a mean age of 67.7 yr (range 53 to 85), were included in the primary analysis. The vapo...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
doi:10.3346/jkms.2009.24.6.1187
更新日期:2009-12-01 00:00:00
abstract:BACKGROUND:Mechanism and predictive biomarkers for tyrosine kinase inhibitor (TKI) resistance of advanced clear cell renal cell carcinoma (ccRCC) have not been fully evaluated. METHODS:We performed gene expression profiling on samples from an acquired TKI resistance cohort that consisted of 10 cases of TKI-treated ccR...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
doi:10.3346/jkms.2020.35.e31
更新日期:2020-02-10 00:00:00
abstract::Using the Korean public health insurance database, we analyzed patients diagnosed as benign prostatic hyperplasia (BPH) from 2004 to 2008. Age and year-specific amount and seasonal variation of hospital visits (HV), duration of treatment (DT), the total and per capita amount of insurance payment (TAIP, PCIP) were eval...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
doi:10.3346/jkms.2015.30.2.180
更新日期:2015-02-01 00:00:00
abstract:BACKGROUND:We aimed to validate Baveno VI and expanded Baveno VI criteria using two dimensional shear-wave elastography (2D-SWE) in compensated advanced chronic liver disease (cACLD) patients with alcohol as the main etiology. METHODS:Clinical data from 305 patients with cACLD who underwent a liver stiffness measureme...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
doi:10.3346/jkms.2020.35.e249
更新日期:2020-08-03 00:00:00
abstract::Although the incidence of bleeding complications during extracorporeal membrane oxygenator (ECMO) support has decreased in various trials, bleeding is still the most fatal complication. We investigated the ideal dosage and efficacy of nafamostat mesilate for use with ECMO in patients with acute cardiac or respiratory ...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
doi:10.3346/jkms.2011.26.7.945
更新日期:2011-07-01 00:00:00
abstract:BACKGROUND:Women with ankylosing spondylitis (AS) show a higher rate of cesarean section (CS) compared with healthy women. In this study, we determined the effects of pregnancy and delivery methods on AS worsening by analyzing prescription patterns. METHODS:The subjects were women with AS aged 20-49 years listed in th...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
doi:10.3346/jkms.2019.34.e238
更新日期:2019-09-30 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
doi:10.3346/jkms.2011.26.12.1548
更新日期:2011-12-01 00:00:00
abstract::Rearrangements of the subtelomeric regions of chromosomes account for a significant proportion of the underlying genetic defects in both idiopathic mental retardation (MR) and multiple congenital anomalies. To detect the rearrangements, a set of subtelomeric fluorescence in situ hybridization (FISH) probes has been de...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
doi:10.3346/jkms.2008.23.4.573
更新日期:2008-08-01 00:00:00
abstract::There have been many epidemiological researches of chronic kidney disease (CKD), accompanied by an increase in the incidence of coronary heart disease (CHD). However, as far as we know, little research has been done to examine the extent of the relationship between CKD and CHD as estimated by Framingham risk score (FR...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
doi:10.3346/jkms.2011.26.6.753
更新日期:2011-06-01 00:00:00
abstract::We experienced two unusual cases of tumor-like polypoid lesions involving the rectosigmoid colon. They could not be readily classified into any well known polypoid tumors of the rectosigmoid colon, but appeared to have some similarities to the previously documented "eroded polypoid hyperplasia (EPH)". A collective rev...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
doi:10.3346/jkms.1994.9.4.319
更新日期:1994-08-01 00:00:00
abstract::The purpose of this study was to review occupational reproductive abnormalities and occupational bladder cancer in Korea and to discuss their toxicological implications. Reproductive dysfunction as a result of 2-bromopropane poisoning was first reported in Korean workers. In 1995, 23 of the 33 workers (25 female and 8...
journal_title:Journal of Korean medical science
pub_type: 杂志文章,评审
doi:10.3346/jkms.2010.25.S.S41
更新日期:2010-12-01 00:00:00
abstract::A case of nerve sheath myxoma also called as neurothekeoma in a 33-year-old woman is described. The lesion appeared as a painful, elevated nodule on the scalp for several months, without an appreciable increase in size. Microscopically, it showed typical histologic characteristics of nerve sheath myxoma, and tumor cel...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
doi:10.3346/jkms.1992.7.1.85
更新日期:1992-03-01 00:00:00
abstract::The objective of this study was to evaluate the prevalence of asthma, allergic rhinitis, and atopic dermatitis, as well as the risk factors of wheezing among young adults in the Korean military. Young military conscripts in five areas completed a modified International Study of Asthma and Allergies in Childhood (ISAAC...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
doi:10.3346/jkms.2011.26.2.201
更新日期:2011-02-01 00:00:00
abstract::A retrospective histological study of 540 malignant lymphomas diagnosed at the Department of Pathology of the Seoul National University from 1976 through 1986 is presented. Malignant lymphoma is the 10th most common malignant tumor in Korea, comprising 3.07% of all malignancy during period of study. Among malignant ly...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
doi:10.3346/jkms.1987.2.4.231
更新日期:1987-12-01 00:00:00
abstract::Intravascular papillary endothelial hyperplasia (Masson's hemangioma) is a disease characterized by exuberant endothelial proliferation within the lumen of medium-sized veins. In 1923, Masson regarded this disease as a neoplasm inducing endothelial proliferation, however, now it is considered to be a reactive vascular...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
doi:10.3346/jkms.2004.19.2.305
更新日期:2004-04-01 00:00:00
abstract::c-erbB-2 oncogene encodes a growth factor receptor whose amino acid sequence has extensive homology with human epidermal growth factor receptor. It is frequently overexpressed in human breast, ovary, lung, and stomach cancers, where its overexpression is related significantly to the prognosis. Tl investigate the possi...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
doi:10.3346/jkms.1993.8.2.153
更新日期:1993-04-01 00:00:00
abstract::Phospholipase C (PLC) and related enzymes in signal transduction system are closely linked to cellular damage in ischemic encephalopathy. This study was undertaken to elucidate the time sequential changes of PLC isoenzymes (beta and gamma) in vulnerable areas of hippocampus in global ischemia and infarcted area in foc...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
doi:10.3346/jkms.1996.11.1.44
更新日期:1996-02-01 00:00:00
abstract::The purpose of the current study was to propose a Korean-specific parameter set for calculating the risk of Down syndrome in the second trimester of pregnancy and to determine the screening performances of triple and quadruple tests in Korean women. Using the data on triple or quadruple screening from three hospitals ...
journal_title:Journal of Korean medical science
pub_type: 杂志文章
doi:10.3346/jkms.2011.26.12.1619
更新日期:2011-12-01 00:00:00