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Purpose : X-linked agammaglobulinemia(XLA) is an immunodeficiency caused by abnormalities in Bruton's tyrosine kinase(Btk), and is characterized by a deficiency of peripheral blood B cells. We studied cytoplasmic expression of Btk protein and analyzed the Btk gene in peripheral blood mononuclear cells(PBMC) from three XLA families in Korea. Methods : Heparinized venous blood samples were collected from four XLA patients... |
Purpose : We have performed this study to obtain reference data for the distribution of chromosomal aberrations in Korea. Methods : We analyzed 1,180 chromosomal study cases from Kwang ju Christian Hospital during the past 25 years. 756 cases suspected of characteristic chromosomal aberration syndromes and 424 cases with hermaphroditism, mild sexual abnormalities, multiple anomalies, or mental & growth retardation... |
Purpose : Steatorrhea tests have been developed using various methods. Acid steatocrit is a simple method to detect steatorrhea and has very high sensitivity and specificity. This present study was designed to establish the normal values of acid steatocrit in Korean infants and to find the difference according to the various feeding methods. Methods : Acid steatocrit tests were conducted on... |
Purpose : We intended to find out how the red cell transfusion would change the white cell count in preterm neonates under treatment in the intensive care unit. We also speculated whether the magnitude of such a change could indicate a potential neonatal infection. Methods : Total white blood cell count, total neutrophil count, and band count were compared and analyzed... |
Purpose : To investigate the feature of the range of measles in 2000, we studied epidemics of the measles in western Kyungnam District. Methods : Among 489 patients under 15 years of age who visited or were admitted to in our hospital from January to December in 2000, we selected 344 patients whose measles IgM antibody was positive. We investigated age,... |
Purpose : The purpose of this study was to evaluate the clinical usefulness of chest high-resolution computed tomography(HRCT) in patients with chronic coughs or persistent wheezing with normal chest X-ray finding. Methods : We reviewed the charts, chest X-rays, and HRCT findings of patients with chronic coughs or persistent wheezing of less than 2 years of age. The records were sourced... |
Purpose : Penicillin- and multidrug-resistant S. pneumoniae poses a serious threat to clinicians because the rate of resistance of S. pneumoniae to penicillin in Korea has surged up to the world's highest level. This study was performed to assess the carriage rate, serogroups and antimicrobial susceptibility of S. pneumoniae isolated from oropharynx in children. Methods : From March to July 1998,... |
Purpose : Selective introduction of genes conferring chemosensitivity into proliferating tumor cells may be used to treat cancer. We first investigated the bystander effect of retrovirus-mediated gene transfer of herpes simplex virus thymidine kinase(HSV-TK) gene to murine neuroblstoma cell line(neuro-2a) in vitro and in vivo. Second, we examined the mechanism and its enhancement of the bystander effect in murine neuroblastoma. Methods... |
Purpose : Anemia is still the most common nutrient deficiency worldwide, especially in adolescence because of an insufficient supply of iron, an increased iron requirement due to accelerated physical growth and blood loss due to menstruation in girls. This study was designed to assess the anemia and serum iron status of middle school girls. Methods : Hematologic examinations, physical examinations and... |
Purpose : In most cases, myelodysplastic syndrome(MDS) transforms into a more aggressive state or acute myelogenous leukemia; it's prognosis is very poor. It is believed that hematopoietic stem cell transplantation(HSCT) is the only curative treatment of MDS, but available data in children are very sparse. In this report, the short term outcome of HSCT in childhood MDS was analyzed. Methods :... |
Purpose : To identify clinical and laboratory features of atypical Kawasaki disease(KD), and to develop criteria for early diagnosis of atypical KD patients. Methods : All patients with KD treated at our hospital from January 1998 to June 2000 were reviewed retrospectively. Results : Among a total of 167 patients, 28(16.8%) were atypical KD of which seven(25%) were infants. Among the... |
We experienced a case of partial DiGeorge syndrome in a 35+5 week premature female infant presented with micrognathia, fish-shaped mouth, beaked nose, nasal regurgitation, obstructive sleep apnea, velopharyngeal insufficiency and late onset hypocalcemic seizures. The chromosome 22q11 microdeletion was found by the FISH method. The lab findings showed serum calcium level of 4.4 mg/dL, ionized calcium level of 0.49 mg/dL,... |
College of Medicine, Yonsei University, Seoul, Korea Wilms tumor is the second most common malignant retroperitoneal tumor. Inferior vena cava and right atrial involvement is found in about 4-10% and 0.5-3% of cases, respectively. But, right ventricular involvement has not been reported. We experienced a case of Wilms tumor with right ventricular invasion in a 2 year-old male who presented intermittent... |
Recently, the increasing use of antenatal high resolutional ultrasonographic studies, and the increasing expertise of sonographers have contributed to the more frequent prenatal detecton of fetal hepatic calcification. Fetal hepatic calcification can arise from peritoneal, ischemic, infectious, neoplastic, and idiopathic causes. There are many reports that the prognosis is good in isolated fetal hepatic calcification without chromosomal aberrations, associated congenital... |
Mycoplasma pneumoniae(M. pneumoniae) is the leading cause of pneumonia in school-age children and young adults. The clinical courses are usually mild but recently, severe cases were reported such as lung abscess, Swyer-James syndrome and adult respiratory distress syndrome. Spontaneous pneumothorax associated with M. pneumoniae infection is rare. Carlisle reported a 6-year-old patient with bilateral spontaneous pneumothorax associated with M. pneumoniae... |
Henoch-Sch nlein purpura(HSP) is one of the most common vasculitic diseases of childhood, referred to as a leukocytoclastic vasculitis affecting small vessels. Although HSP related gastrointestinal symptoms are seen in up to 80% of patients during acute illness, these symptoms are usually transient. However, some patients with HSP have gastrointestinal major surgical complications such as intussusception, bowel infarction, necrosis, stricture,... |
Gitelman's syndrome is an autosomal recessive disorder characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria that has recently been reported to be linked to thiazide-sensitive Na-Cl cotransporter gene mutation. In this study, we performed renal clearance studies to differentiate Gitelman's from Bartter's syndrome and to confirm the diagnosis in two patients clinically diagnosed with Gitelman's syndrome. Each patient was hydrated... |