• Tuberculosis and Respiratory Diseases
• /
• v.65 no.3
• /
• pp.207-211
• /
• 2008

X-linked agammaglobulinemia is the most common type of primary immunodeficiency disorder. Mutation ofthe cytoplasmic tyrosine kinase gene, Btk (Bruton's tyrosine kinase), is known to be the etiology of X-linked agammaglobulinemia. The patients with this disease manifest a B-cell deficiency and low levels of serum immunoglobulin; due to the deficient antibodies, they suffers from recurrent upper and lower respiratory infections. We report here a 24-year-old male with an initial clinical impression of recurrent pneumonia and bronchiectasis. The patient presented with marked pan-hypogammaglobulinemia and the absence of circulating B-lymphocytes on the immunologic study, and he carried a splicing mutation of intron 2 in the Btk gene (IVS2 -3C>G).

• Journal of Korean Academy of Fundamentals of Nursing
• /
• v.7 no.2
• /
• pp.208-221
• /
• 2000

The objective of this research was to compare the flushing effects using 1:1,000 diluted heparin or 0.9% normal saline in relation to needle gauge and frequency of IV medications. The comparative categories were clotting, duration of patency, and incidence of phlebitis. The design of research was a Nonequivalent Control group, Post test, Nonsynchrorized Design. The independent variable was 0.9% normal saline flushing the IV locks and the dependent variables were clotting, duration of patency, and incidence of phlebitis. Subjects were medical-surgical inpatients over 15 years old and with peripherally placed IVs who were hospitalized in a university medical center. Exclusion criteria included foreigners and those who were rejected for this research. The final sample for data analysis included 295 IV sites in 194 patients; 154 were in the saline group and 141 were in the heparin group. Subjects were assigned to have IV locks is flushed with 0.9% normal saline in the experimental group and to have IV lock flushed with 1:1,000 diluted heparin(100 units) in the control group. In order to increase reliability, the nurses who were assigned to the units involved in the study received an explanation on the standard method for locking an IV, recording method for observational data and criteria for the detection of phlebitis. Data were collected for a period of 2 weeks, from March 16, 2000 to March 29, 2000. Total duration of IV was defined the time of IV insertion to the time of discontinuation. Phlebitis was defined as the presence of the following : pain, swelling. erythema at the insertion site. Chi-square was used to determine the association between the degree of clotting, duration of patency, and incidence of phlebitis for the diluted heparin or the normal saline and needle gauge and frequency of IV medications. The results are summarized as follows : (a) There was difference in the degree of clotting between two groups($X^2=5.882$, p=.015). (b) There was no difference in the degree of duration of patency between two groups($X^2=2.439$, p=.295). (c) There was no difference in the incidence of phlebitis between two groups($X^2=0.190$, p=.663). (d) There was difference in the degree of clotting($X^2=6.209$, p=.013) and in the degree of duration of patency($X^2=6.978$, p=.031) according the needle guage between the two groups. (e) There was difference in the incidence of phlebitis($X^2=5.008$, p=.025) according to the frequencies of IV injection between two groups.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.5 no.1
• /
• pp.48-56
• /
• 2005

Purpose: Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder affecting 1 per 10,000~15,000 female births worldwide. The disease-causing gene has been identified as MECP2 (methyl-CpG-binding protein). In this study, we carried out diagnostic mutational analysis of MECP2 gene in RTT patients. Methods: We analyzed four exons and putative promoter of MECP2 gene from the peripheral blood of 43 Korean patients with RTT by PCR-RFLP and direct sequencing. Results: Mutations were detected in MECP2 gene about 60.5% of patients. The mutations consisted of 14 different types including 9 missense mutations, 4 nonsense mutations and 1 frameshift mutation. Of these, three mutations (G161E, T311M, P385fsX409) were newly identified and these were determined as disease-causing mutations by PCR-RFLP and direct sequencing analysis. Most of the mutations were located within MBD (42.3%) and TRD (50%). T158M, R270X, and R306C mutations were identified with high frequency. An intronic SNP (IVS3+23C>G) was newly identified in only three of the patients. It may be a disease-related and Korea-specific SNP with RTT. The L100V and A201V have been reported to be unclassified variant and SNP. However, these mutations were not found in more than 100 normal Korean control samples. These base substitutions seem to be the disease-causing mutations in Korean RTT contrary to previous studies. Conclusion: Disease-causing mutations and polymorphisms would be very important for diagnosing of RTT in Korean. The experimental procedure used in this study might be considered for molecular biologic diagnosis used in clinical field.

• Advances in pediatric surgery
• /
• v.20 no.2
• /
• pp.53-57
• /
• 2014

Purpose: Neonatal neuroblastoma (NBL) is the most common malignant tumor in neonates, but there have been few studies about it. The purpose of this study was to investigate the clinical features of NBL and to compare prenatal and postnatal diagnosed groups. Methods: Nineteen patients who were diagnosed with NBL prenatally or within 28 days after birth from February 1986 to February 2013 in Seoul National University Hospital were enrolled in the study. The patients were categorized according to the International Neuroblastoma Staging System (INSS) and Children's Oncology Group (COG). Retrospective medical-record reviews were performed on these patients. The operative date, complication, pathological stage, and overall survival of the prenatally diagnosed group and the postpartum diagnosed group were compared. Results: Tumor was detected via prenatal ultrasonography in 8 patients (42.1%), and 11 patients (57.9%) were diagnosed within 28 days after birth. Based on INSS, the patients were divided into the stage I (n=8), stage II (n=1), stage III (n=3), stage IV (n=4), and stage IVs (n=3) groups, respectively. Based on COG, on the other hand, the patients were divided into the low-risk (n=8), intermediate-risk (n=8), and high-risk (n=3) groups. The postoperative complication rate was 29%. One patient died from complications from chemotherapy. The other 18 patients' mean follow-up period was 77.7 months. The differences between the postoperative complication rate, proportion of early-stage tumor, and overall survival of the prenatal and postnatal groups were not statistically significant (p=0.446, p=0.607, p=0.414). Conclusion: NBL showed favorable outcomes but relatively higher postoperative complications. There seem to be no significant statistical differences in the postoperative complications, proportion of early-stage tumor, and overall survival between the prenatally diagnosed group and the postpartum diagnosed group.

• Journal of Audiology & Otology
• /
• v.23 no.1
• /
• pp.20-26
• /
• 2019

Background and Objectives: Autosomal recessive non-syndromic hearing loss (ARNSHL) with genetic origin is common (1/2000 births). ARNSHL can be associated with mutations in gap junction protein beta 2 (GJB2). To this end, this cohort investigation aimed to find the contribution of GJB2 gene mutations with the genotype-phenotype correlations in 45 ARNSHL cases in the Kurdish population. Subjects and Methods: Genomic DNA was extracted from a total of 45 ARNSHL families. The linkage analysis with 3 short tandem repeat markers linked to GJB2 was performed on 45 ARNSHL families. Only 9 of these families were linked to the DFNB1 locus. All the 45 families who took part were sequenced for confirmation linkage analysis (to perform a large project). Results: A total of three different mutations were determined. Two of which [c.35delG and c.-23+1G>A (IVS1+1G>A)] were previously reported but (c.299-300delAT) mutation was novel in the Kurdish population. The homozygous pathogenic mutations of GJB2 gene was observed in nine out of the 45 families (20%), also heterozygous genotype (c.35delG/N)+(c.-23+1G>A/c.-23+1G>A) were observed in 4/45 families (8.8%). The degree of hearing loss (HL) in patients with other mutations was less severe than patients with c.35delG homozygous mutation (p<0.001). Conclusions: Our data suggest that GJB2 mutations constitute 20% of the etiology of ARNSHL in Iran; moreover, the c.35delG mutation is the most common HL cause in the Kurdish population. Therefore, these mutations should be included in the molecular testing of HL in this population.

• Korean Journal of Audiology
• /
• v.23 no.1
• /
• pp.20-26
• /
• 2019

Background and Objectives: Autosomal recessive non-syndromic hearing loss (ARNSHL) with genetic origin is common (1/2000 births). ARNSHL can be associated with mutations in gap junction protein beta 2 (GJB2). To this end, this cohort investigation aimed to find the contribution of GJB2 gene mutations with the genotype-phenotype correlations in 45 ARNSHL cases in the Kurdish population. Subjects and Methods: Genomic DNA was extracted from a total of 45 ARNSHL families. The linkage analysis with 3 short tandem repeat markers linked to GJB2 was performed on 45 ARNSHL families. Only 9 of these families were linked to the DFNB1 locus. All the 45 families who took part were sequenced for confirmation linkage analysis (to perform a large project). Results: A total of three different mutations were determined. Two of which [c.35delG and c.-23+1G>A (IVS1+1G>A)] were previously reported but (c.299-300delAT) mutation was novel in the Kurdish population. The homozygous pathogenic mutations of GJB2 gene was observed in nine out of the 45 families (20%), also heterozygous genotype (c.35delG/N)+(c.-23+1G>A/c.-23+1G>A) were observed in 4/45 families (8.8%). The degree of hearing loss (HL) in patients with other mutations was less severe than patients with c.35delG homozygous mutation (p<0.001). Conclusions: Our data suggest that GJB2 mutations constitute 20% of the etiology of ARNSHL in Iran; moreover, the c.35delG mutation is the most common HL cause in the Kurdish population. Therefore, these mutations should be included in the molecular testing of HL in this population.

• Clinical and Experimental Pediatrics
• /
• v.48 no.8
• /
• pp.846-856
• /
• 2005

Purpose : To measure the peak myocardial tissue velocities and patterns of longitudinal motion of atrioventricular(AV) annuli and assess body weight and heart rates-related changes in normal children. Methods : Using pulsed wave Tissue Doppler Imaging(TDI), we measured peak systolic, early and late diastolic myocardial velocities in 72 normal children at six different sites in apical-4 chamber (A4C) view and at four different sites in apical-2 chamber(A2C) view and compared those values with each other, also observing effects with body weights and heart rates. Longitudinal motions of the AV annuli were measured at three different sites in A4C. Results : There were no significant differences of the TDI parameters between gender, ECHO-machines and among the three Doctors performing TDI. Peak myocardial velocities were significantly higher at the base of the heart than in the mid-ventricular region and in the right lateral ventricular wall than in the left lateral ventricular wall or IVS. The TDI parameters showed no significant correlation with fractional shortening(%). Peak systolic and early diastolic myocardial velocities had no correlation with heart rates, but peak late diastolic velocities and A/E ratio correlated positively with heart rates. Correlations between the TDI parameters and body weight were inconsistent. Absolute longitudinal displacement and % displacement were not differ between gender and not correlated with the TDI parameters. Conclusion : We measured the peak myocardial velocities with TDI and the longitudinal motion of the AV annuli using M-mode echocardiography in normal children. With more large scale evaluation, we may establish reference values in normal children and broaden clinical applicabilities in congenital and acquired heart diseases.

• Journal of Chest Surgery
• /
• v.44 no.2
• /
• pp.115-122
• /
• 2011

Background: The intramural coronary artery has been known as a risk factor for early death after an arterial switch operation (ASO). We reviewed the morphological characteristics and evaluated the early and mid-term results of ASO for patients with an intramural coronary artery. Materials and Methods: From March 1994 to September 15th 2010, 158 patients underwent ASO at Dong-A and Pusan National University Hospitals for repair of transposition of the great arteries and double outlet right ventricle. Among these patients, 14 patients (8.9%) had an intramural coronary artery. Mean age at operation was $13.4{\pm}10.2$ days (4 to 39 days) and mean body weight was $3.48{\pm}0.33$ kg (2.88 to 3.88 kg). All patients except one were male. Eight patients had TGA/IVS and 4 patients had an aortic arch anomaly. Two patients (14.3%) had side-by-side great artery relation, of whom one had an intramural right coronary artery and the other had an intramural left anterior descending coronary artery. Twelve patients had anterior-posterior relation, all of whom had an intramural left coronary artery (LCA). The aortocoronary flap technique was used in coronary transfer in 8 patients, of whom one patient required a switch to the individual coronary button technique 2 days after operation because of myocardial ischemia. An individual coronary button implantation technique was adopted in 6, of whom 2 patients required left subclavian artery free graft to LCA during the same operation due to LCA injury during coronary button mobilization and LCA torsion. Results: There was 1 operative death (7.1%), which occurred in the first patient in our series. This patient underwent an aortocoronary flap procedure for coronary transfer combining aortic arch repair. Overall operative mortality for 144 patients without an intramural coronary artery was 13.2% (19/144). There was no statistical difference in operative mortality between the patients with and without an intramural coronary artery (p>0.1). There was no late death. The mean follow-up duration was $52.1{\pm}43.0$ months (0.5 to 132 months). One patient who had a subclavian artery free graft required LCA stenting 6.5 years after surgery for LCA anastomotic site stenosis. No other surviving patient needed any intervention for coronary problems. All patients had normal ventricular function at latest echocardiography and were in NYHA class 1. Conclusion: The arterial switch operation in Transposition of Great Arteries or Double Outlet Right Ventricle patients with intramural coronary can be performed with low mortality; however, there is a high incidence of intraoperative or postoperative coronary problems, which can be managed with conversion to the individual coronary button technique and a bypass procedure using a left subclavian free graft. Both aortocoronary flap and individual coronary button implantation techniques for coronary transfer have excellent mid-term results.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.5 no.1
• /
• pp.65-75
• /
• 2005

Purpose: To understand genetic differences and similarities between mucolipidosis and control. Methods: Using the fibroblast of the mucolipidosis II and control, forward and reverse subtracted libraries were constructed. Among these clones, we investigated mutations in the GNPTA (MGC4170) gene, which codes for the ${\alpha}/{\beta}$ subunits of phosphotransferase, and in the GNPTAG gene, which codes for the ${\gamma}$ subunits in 5 Korean patients with mucolipidosis type II or IIIA. Result: Several differentially expressed cDNAs were cloned and their sequences were determined. Mutation analysis of the interested gene, GNPTA was performed and we identified 7 mutations in the GNPTA gene, but none in the GNPTAG gene. The mutations in type II patients included p.Q104X(c.310C>T), p.R1189X(c.3565C>T), p.S1058X(c.3173C>G), p.W894X(c.2681G>A) and p.H1158fsX15(c.3474_3475delTA), all of which are non-sense or frame shift mutations. However, a splicing site mutation, IVS13+1G>A (c.2715+1G>A) was detected along with a non-sense or a frame shift mutation (p.R1189X or p.E858fsX3(c.2574_2575delGA)) in two mucolipidosis type IIIA patients. Conclusion: This report shows that mutations in the GNPTA gene coding for the ${\alpha}{\beta}$subunits of phosphotransferase, and not mutations in the GNPTAG gene, account for most of mutations found in Korean patients with mucolipidosis type II or IIIA.

• Journal of Chest Surgery
• /
• v.34 no.10
• /
• pp.754-762
• /
• 2001

Background: To evaluate the efficacy of arterial switch operation for transposition of great arteries, serial echocardiographic studies were performed in 8 patients who underwent the surgery between 1989 and 1998 at Dept. of Thoracic & Cardiovascular Surgery, Yeungnam University Hospital in Daegu City, Korea. Material and Method: Follow-up period ranged from 6 months to 11 years(average of 4.1 years). Body weight ranged from 2.6kg to 4.8kg, with average of 3.6kg. 5 of 8 patients were preoperatively diagnosed as TGA+VSD, and 3 as TGA+IVS. LV function was evaluated by the measurement of LV shortening fraction, LVSTI, and LVEF. RVSTI was also measured. Postoperative function of valve and growth of great vessels were analyzed by the measurement of PSPGV, valvular regurgitation, LA/AO ratio, root dimension of aorta and pulmonary artery, comparing with the age matched controls, respectively. Result: LVEF had an average of 65.0+9.03% which is tended to increase serially. LVAOPG had an average of 15.9mmHg. RVPAPG, 27.5mmHg. From the measurement of aortic root dimension of 6 patients at end-systole, aortic root growth was assumed to increase more than the mean value of normal growth. PA root dimension at end-systole showed a similar growth progress when compared with age matched normal controls. Postoperative pulmonic valve regurgitation was noted in 5 of total 8 patients, in which 1 patient who showed grade 2 and 4 showed below grade 1. AR, in 6 patients and all grade 1 Except 1 patient, all the valvular regurgitations were below grade 1, which was presumed to be clinically insignificant.