• Clinical and Experimental Pediatrics
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• v.46 no.9
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• pp.883-888
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• 2003

Purpose : The etiology of hemolytic anemia can be classified as either cellular or extracellular defects of red blood cells. The aim of this study was to investigate the clinical and laboratory findings of hemolytic anemia concerning its etiological classification. Methods : Clinical and laboratory findings of the patients with hemolytic anemia treated from January 1987 to May 2002 at Severance Hospital were analyzed retrospectively. They were divided into two groups based on the types of red cell defects(group I : erythrocytic defect, group II : extraerythrocytic defect). Results : Twenty one cases were included in group I, thirty four cases in group II, and three cases were unclassified. In group I, nineteen cases(90.5%) were diagnosed as hereditary spherocytosis and were proved to have red cell membrane disorders while two cases(9.5%) were shown to have red cell enzyme deficiencies. In group II, thirteen cases(38.2%) were noted as autoimmune hemolytic anemia, eleven cases(32.4%) as traumatic or microangiopathic hemolytic anemia, four cases(11.8%) as drug induced hemolytic anemia, two cases(5.9%) were related with systemic lupus erythematosus and one case(2.9%) with malignancy. Hemoglobin at the time of diagnosis(7.5 g/dL vs. 6.2 g/dL, P<0.05) and the incidence of splenomegaly(85.7% vs. 18.2%, P<0.05) were higher in group I though blood urea nitrogen(9.0/0.4 mg/dL vs. 27.8/1.6 mg/dL, P<0.05) was higher in group II. Conclusion : Comparing the clinical features of pediatric hemolytic anemia, we concluded as following : In cases associated with extraerythrocytic defect, blood tests revealed significant initial lower hematocrit with higher level of BUN and Cr while cases with erythrocytic defect, splenomegaly were more common noted.

• Clinical and Experimental Pediatrics
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• v.46 no.3
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• pp.265-270
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• 2003

Purpose : To characterize the infants under 3 months of age with urinary tract infections(UTIs), and especially patients with bacteremia or meningitis Methods : Hospital records of all the infants under 3 months of age discharged from our hospital for 69 consecutive months with the diagnosis of initial episode of UTI were reviewed. UTI was defined when patients had fever with pyuria, and had urine culture results of ${\geq}10^5$ colony forming units/mL from a bag specimen. Patients with previously known urologic abnormality or immunodeficiency were excluded. Nosocomial infections were also excluded from the study. Results : The male:female ratio was 35 : 6. Of the urine cultures, 40(97.6%) yielded single pathogen, one yielded two pathogens. Escherichia coli was the predominant isolate from the urine. Five patients(12%) also had bacteremia. Pathogens isolated from the blood cultures were E. coli(4) and Enterococcus faecalis(1). No patient had culture-positive meningitis or cerebrospinal fluid pleocytosis. Clinical or laboratory findings between patients with and without bacteremia were not different significantly. The rate of vesicoureteral reflux(VUR) was 44%. The sensitivity of ultrasound for detection of VUR was 38%; specificity was 50%. Conclusion : Clinical and laboratory data were not helpful for identifying patients with bacteremia at the time of presentation. Consequently, blood cultures need to be obtained from all febrile infants under 3 months of age with UTIs. A large-scale study including the indication of lumbar puncture for infants with a febrile UTI and study of evaluation and treatment of infants under 3 months of age with UTIs are required.

• Tuberculosis and Respiratory Diseases
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• v.59 no.6
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• pp.651-655
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• 2005

Background : Diagnosing a pulmonary embolism is difficult because its presenting symptoms are nonspecific and there are limitations with all of the objective tests. The D-dimer is known to be a marker of the lysis of intravascular cross-linked fibrin as a result of the activation of the endogenous fibrinolytic pathways, and the D-dimer assay is these an objective method for diagnosing a pulmonary embolism. This study assessed the benefits of the D-dimer test for diagnosing a pulmonary embolism using semiquantitative latex agglutination. Methods : The latex agglutination results of 185 patients were retrospectively reviewed. The D-dimer test was performed at the time a pulmonary embolism was suspected. Ninety patients(group I) were diagnosis with PE through spiral chest CT or a chest CT angiogram, perfusion/ventilation scans, and/or pulmonary angiogram. Ninety-five patients (group II) were found not to have a pulmonary embolism through the above tests. Results : The male to female ratio and mean age in groups I and II was 37:55, and 57 years old to 50:45 and 52 years old, respectively. When the cut off value for a positive D-dimer assay was set to $500{\mu}g$, the sensitivity, positive predictive value, negative predictive value and specificity was 86.7%, 61.4%, 79.3%, and 48.4%, respectively. Conclusion : The semiquantitative latex agglutination method in the D-dimer test has a lower sensitivity and negative predictive value than the well known ELISA test particularly for small emboli. Therefore, this test is not a suitable screening test for excluding a pulmonary embolism.

• Tuberculosis and Respiratory Diseases
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• v.52 no.4
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• pp.367-375
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• 2002

Background : Murine typhus is a flea-borne, worldwide Rickettsial disease caused by Rickettsia typhi. Its symptoms are typically mild but sometimes can be fatal. The major clinical features include fever, rash, and headache. Recently, we experienced 6 cases of ARDS associated with a Rickettsia typhi infection. This study was aimed to analyze the attributing factors for fatal murine typhus and to review the characteristics of the patients who showed acute respiratory distress syndrome as the initial presentation. Methods : The medical records of 15 patients diagnosed as murine typhus were reviewed. The diagnosis was made by single titers of 1:512 or higher, or a 4-fold rise with compatible clinical features. Acute Respiratory Distress Syndrome (ARDS) was defined according to the American-European Consensus Conference. The Characteristics between the ARDS group and the non-ARDS group of murine typhus were compared. Results : Six patients developed ARDS as their initial presentation. Two of them were women and three of them had lived urban area. None of Them a showed skin rash. One of them expired during treatment. The time lapse until the commencement of the specific treatment, the lower serum albumin level, the higher serum total bilirubin level, the higher APACHE III score and the higher MOD score were significantly associated with the ARDS group compared to the non-ARDS group. Conclusion : Murine typhus should be considered as one of the etiologies for the ARDS of unknown cause, particularly in an endemic regions. ARDS caused by Murine typhus generally has a good prognosis.

• Journal of Genetic Medicine
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• v.5 no.1
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• pp.15-20
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• 2008

Purpose : Large exon deletions in the DMD gene are found in about 60% of DMD/BMD patients. Multiplex PCR has been employed to detect the deletion mutation, which frequently generates noise PCR products due to the presence of multiple primers in a single reaction as well as the stringency of PCR conditions. This often leads to a false-negative or false-positive result. To address this problematic issue, we introduced the dual primer oligonucleotide (DPO) system. DPO contains two separate priming regions joined by a polydeoxyinosine linker that results in high PCR specificity even under suboptimal PCR conditions. Methods : We tested 50 healthy male controls, 50 patients with deletion mutation as deletion-positive patient controls, and 20 patients with no deletions as deletion-negative patient controls using DPO-multiplex PCR. Both the presence and extent of deletion were verified by simplex PCR spanning the promoter region (PM) and 18 exons including exons 3, 4, 6, 8, 12, 13, 17, 19, 43-48, 50-52, and 60 in all 120 controls. Results : DPO-multiplex PCR showed 100% sensitivity and specificity for the detection a deletion. However, it showed 97.1% sensitivity and 100% specificity for determining the extent of deletions. Conclusion : The DPO-multiplex PCR method is a useful molecular test to detect large deletions of DMD for the diagnosis of patients with DMD/BMD because it is easy to perform, fast, and cost-effective and has excellent sensitivity and specificity.

• Journal of Genetic Medicine
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• v.5 no.1
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• pp.26-33
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• 2008

Purpose : Phenylketonuria(PKU) is an inborn error of metabolism and a genetic disorder resulting from a deficiency of phenylalanine hydroxylase(PAH) and decreased activity of tetrahydrobiopterin(BH4).In this study the correlation between the DNA mutation and clinical manifestations was investigated and PAH DNA mutations were compared bewteen Asian and Caucasian populations. Methods : DNA was isolated from peripheral leukocytes. The PAH gene was amplified by Polymerase Chain Reaction(PCR) and the sequence was analyzed with Multiplex Ligation-dependent Probe Amplification(MLPA). Results : We characterized the PAH gene of 102 independent Korean patients with PKU. PAH nucleotide sequence analysis revealed 44 different mutations, including 10 novel mutations comprising 9 missense mutations(N207D, K95del, A447P, G344D, P69S, S391I, A202T, G103S, and I306L) and 1 novel splice-site variant mutation(IVS10-3C>G). R243Q was the most prevalent mutation in this study. A259T has not previously been reported in Asian populations, but we found that this mutation had a frequency of 10.1% in our study. Furthermore, the genotypes of $BH_4$ responsive patients were analyzed and were divided into two groups: $BH_4$ medication-only group and $BH_4$ medication with diet therapy group. In the $BH_4$ medication-only group and $BH_4$ medication with diet therapy group, R241C was the most common mutation. Conclusion : Novel mutations in the PAH gene of PKU patients are still being discovered. Additional information as to the frequency of mutations in the tetrahydrobiopterine responsive gene is also accumulating. We anticipate that knowledge of these PKU gene mutations will assist the diagnosis, genetic counseling, and therapeutic treatment of PKU patients in future.

• The Korean Journal of Nuclear Medicine Technology
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• v.20 no.1
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• pp.37-41
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• 2016

Purpose The importance of quality control by the error to a minimum, which for the purpose of enhancing the reliability of the examination is not be emphasized excess. Currently, most nuclear medicine laboratory are conducting the internal and external quality control, and they are applying the Levey-Jennings or Westgard Multi-Rules by using the commercialized quality control materials. The reliability of the nuclear medicine blood test which affects the diagnosis of patients and the treatment policy is being secured through this quality control activity. Therefore, researchers will evaluate the utility of the statistic quality control using the population distribution of the nuclear medicine blood test conducted targeting the checkup examinees by the additional technique of the reliability improvement. Materials and Methods A statistic analysis was performed about 12 items of the nuclear medicine blood test targeting 41,341 peoples who used the health screening and promotion center in Asan Medical Center from January, 2014 to December, 2014. The results of 12 items of the nuclear medicine blood test was divided into the monthly percentage of three groups: within reference values, over reference, and under reference to analyze the average value of the population distribution, standard deviation, and standard deviation index (SDI). Results The standard deviation of the population distribution mostly showed a result within ${\pm}2SD$ in all groups. However, When the standard deviation of the population distribution represented a result over ${\pm}2SD$, it was confirmed SDI was showing a result of SDI > -2 or SDI > 2. As a result of analyzing the population distribution of 12 items(AFP, CEA, CA19-9, CA125, PSA, TSH, FT4, Anti-Tg-Ab, Anti-TPO-Ab, Calcitonin, 25-OH-VitD3, Insulin) of the nuclear medicine blood part basic test, when SDI of the monthly percentage which deviated from the reference values was over ${\pm}2.0$, CA19-9 September was 2.2, Anti-Tg-Ab may was 2.2, Insulin January was 2.3, Insulin March was 2.4. It was confirmed these cases were attributed to the abnormality of the test reagent (maximum combination rate of isotope reagent declined) and the decline of the test response time. Conclusion The population distribution includes the entire attribute which becomes the study object. It is expected the statistic quality management using the population distribution which was conducted targeting the checkup examinees by dividing into three groups: within reference values, over reference, and under reference by means of this characteristics will be able to play a role of complementing the internal quality control program which is being carried out in the laboratory.

• Proceedings of the KOR-BRONCHOESO Conference
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• 1982.05a
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• pp.11.2-12
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• 1982

The major advancement in phonosurgery due to recent development of laryngomicrosurgery enabled more accurate diagnosis and treatment of patient with voice disorders. Among large proportion of voice disordered patients, prominent linear furrow running parallel along the free edge of vocal cord extending from the vocal process to anterior commissure can be seen as well as incomplete closure during phonation. These cases were illustrated and coined as sulcus vocalis by Salvi in 1901, since then other similar paper was reported in Europe and Japan, but has not been reported in Korea. The exact etiology and therapeutic methods of sulcus vocalis has not been elaborated. At Department of Otolaryngology of Yonsei University College of Medicine a series of voice analysis were performed among those 35 patients with sulcus vocalis visited to Vocal Dynamics Laboratory from May, 1981 to March, 1982. Following is the result of clinical statistical investgation and therapeutic modality. 1) The incidance of sulcus vocalis among 290 patients with voice disorder visited to Vocal Dynamics Laboratory was approximately 12%(35 cases). 2) Onset of this voice disorder was most frequent among patient under 10 year-old groups; 19 cases (54%) followed by second decade, third decade groups in decreasing frequency respectably. 3) The etiology of sulcus vocalis was mostly unknown. The sequelae after measle (4 cases) and severe upper respiratory infection (3 cases) and congenital deformity (2 cases) were the possible causes of sulcus vocalis. 4) These patients were involved bilaterally in 25 cases (71%), left side only in 8 cases (23%) and right side only in 2 cases (6%). 5) Almost all patients complained hoarseness and 7 patients were suffering from chronic laryngitis. 6) In aerodynamic analysis, Maximal Phonation Time was decreased in 20 cases (57%), Phonation Quotient was increased in 22 cases (63%) and Mean Air Flow Rate was increased in 23 cases (66%). 7) Among them, 33 cases were analyzed with stroboscopy. The findings were as follows; incomplete glottic closure during phonation in 31 cases (93%), regular vocal cord movement in whole cases, asymmetric cord movement in 4 cases (12%), decreased amplitude in 5 cases (21%) and small mucosal wave in 24 cases (73%). 8) Intracordal Teflon injection in 5 cases and Sulcusectomy in 1 cases were performed as therapeutic management, however, the therapeutic results were not effective except one case with Teflon injection.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.1
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• pp.34-41
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• 2016

Adult-onset type II citrullinemia (CTLN2) is characterized by episodes of neurologic symptoms associated with hyperammonemia leading to disorientation, irritability, seizures, and coma. CTLN2 is distinct from classical citrullinemia, which is caused by a mutation of the argininosuccinic acid synthetase (ASS) gene. The serum citrulline level is elevated, while the activity of ASS in liver tissue is decreased. CTLN2 is known to have a poor prognosis if the proper treatment is not taken. We reported a female aged 37 years who developed recurrent attacks of altered consciousness, aberrant behavior, and vomiting. We initially suspected the patient had CTLN2 because of the signs of hyperammonemic encephalopathy, such as altered mentality, memory disturbance, and aberrant behaviors provoked by exercise-induced stress and excessive intravenous amino acid administration. Through her peculiar diet preferences and laboratory findings that included hyperammonemia and citrullinemia, we diagnosed the patient as CTLN2, and SLC25A13 sequencing revealed known compound heterozygous mutations (IVS11+1G>A, c.674C> A). Her parents were heterozygous carriers, and we identified that her older sister had the same mutations. The older sister had not experienced any episodes of hyperammonemia, but she had peculiar diet preferences. The patient and her sister have been well with conservative management. When considering the clinical course of CTLN2, it was meaningful that the older sister could be diagnosed early in an asymptomatic period and that preemptive treatment was employed. Through this case, CTLN2 should be considered in adults who present symptoms of hyperammonemic encephalopathy without a definite etiology. Because of its rare incidence and similar clinical features, CTLN2 is frequently misdiagnosed as hepatic encephalopathy, and it shows a poor prognosis due to the lack of early diagnosis and proper treatment. A high-carbohydrate diet, which is usually used to treat other urea cycle defects, can also exaggerate the clinical course of CTLN2, so proper metabolic screening tests and genetic studies should be performed.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.3 no.1
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• pp.68-74
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• 2000

Purpose: This study was to investigate the clinical manifestations of FTT in children. Methods: From March 1997 to July 1999, clinical observations were made on patients with FTT who had visited to Samsung Medical Center. Detailed histories and through physical examinations were taken, and when suspected organic FTT, basic laboratory studies were done. Results: Upon the review of medical records, we investigated the clinical manifestations of 74 children, aged 1 month and 13 year 1 month. The causes of FTT were composed of either physiologic (47.8%) or pathologic (52.2%) ones. Among the physiologic FTT, were there familial short stature (FSS, 14.5%), intrauterine growth retardation (IUGR, 14.5%), constitutional growth delay (CGD, 11.6%), idiosyncrasy and prematurity. Among pathologic causes, neurologic disorders (20%) are the most common causes of FTT, and then follow by GI (13.4%), allergic and infectious disorders in decreasing order. The data showed that average caloric intake in patients with FTT was 76,2% of recommended amount. FTT patients with CGD, IUGR, and idiosyncrasy had tendency to take small foods. The FTT children with prematurity, IUGR and pathologic FTT, were short and thin for their ages. However FTT children with CGD and FSS had tendency to be thin with relatively normal heights for their ages, in comparison with those of the children with prematurity, IUGR and pathologic FTT. Conclusion: The diagnosis of FTT was easily obtained with simple and through medical history, physical examination, and minimal laboratory tests. In this study, organic FTT was more prevalent than physiologic one. This results indicate that early intervention is mandatory, because children may develop significant long-term sequelae from nutritional deficiency.