• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.3
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• pp.85-91
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• 2017

Purpose: The aim of this study was to describe the clinical and biochemical features as well as the molecular analysis of a newly diagnosed illustrative case with ML II and to analyze the clinical features of 11 Korean patients with ML II/III. Method: Including a newly diagnosed patient, total 11 patients in 10 families were diagnosed as ML II (n=7) or ML III (n=4) were enrolled in the study. A diagnosis of ML II or III was made by demonstrating increased lysosomal enzyme activities in the plasma and sequence analysis of GNPTAB with characteristic clinical features. Result: A illustrative case of ML II patient was a 17 month-old boy showing characteristic facial appearance, multiple joint contractures with cardiac involvements. The enzyme assay showed increased lysosomal enzyme activities in the plasma. We identified compound heterozygous mutations in GNPTAB sequence analysis, including a frameshift (c.3428dupA [pAsn1143Lysfs*3]) and a nonsense variant c.673C>T (p.Gln225*). In total 11 patients with ML II/III, the patients with ML II showed severe growth retardation (height standard deviation score -3.2 [${\pm}1.5$]), compare to patients with ML III. Furthermore, patients with ML II patients had serious cardiac problem (n=4), hepatomegaly (n=3) and underwent tracheostomy (n=3) with further respiratory support due to respiratory distress. To improve osteoporosis and bone pain, all patients with ML III and four of 7 patients with ML II treated with intravenous pamidronate. Conclusion: Here we showed a newly diagnosed case of ML II and clinical features of 11 Korean patients with ML II or III. These data could be helpful for further diagnosis of mucolipidosis, a rare inherited metabolic disease, in Korea.

• Clinical and Experimental Pediatrics
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• v.45 no.11
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• pp.1411-1416
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• 2002

Purpose : Although the use of intravenous gamma-globulin(IVGG) in Kawasaki disease(KD) is effective in reducing clinical symptoms and coronary artery complications, 20-30% of patients have persistent or recrudescent fever and ongoing clinical symptoms. In these patients, the additional infusion of IVGG is considered. The authors studied the characteristics of patients who received IVGG retreatment, and compared them with the patients who did not need IVGG retreatment, for determination of IVGG retreatment. Methods : We reviewed the medical records of 117 KD patients who could be followed up at least six months. We studied the conventional laboratory findings, electrocardiogram(EKG), signal averaged ECG(SAECG) and echocardiogram. Results : Twenty three patients had early cardiac complications during the six months of follow-up. Four patients had late cardiac complications after six months. The early cardiac complication rate was higher in the IVGG retreatment group than the single infusion group(P<0.0001). The late complication rate was also higher in the retreatment group(P<0.0001). The patients who received methyl-prednisolone(m-PD) pulse therapy had much higher rates of early and late cardiac complications than those who received a single IVGG infusion. Among the clinical data and laboratory findings, only CRP increased significantly in patients who have had the cardiac complications. The IVGG retreatment group had increased CRP than the single infusion group. Conclusion : The patients with increased initial CRP may have an increased incidence of complications and an increased possibility of IVGG retreatment. We thought that retreated KD patients might have inflammations severe enough to need high dose IVGG as shown by high CRP levels, and IVGG retreatment could not prevent coronary artery lesions sufficiently.

• Radiation Oncology Journal
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• v.22 no.2
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• pp.77-90
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• 2004

Purpose: The purpose of this review Is to provide an update on novel radiation treatments for head and neck cancer Recent Findings: Despite the remarkable advances In chemotherapy and radiotherapy techniques, the management of advanced head and neck cancer remains challenging. Epidermal growth factor receptor (EGFR) Is an appealing target for novel therapies In head and neck cancer because not only EGFR activation stimulates many important signaling pathways associated with cancer development and progression, and importantly, resistance to radiation. Furthermore, EGFR overexpression Is known to be portended for a worse outcome in patients with advanced head and neck cancer. Two categories of compounds designed to abrogate EGFR signaling, such as monoclonal antibodies (Cetuxlmab) and tyrosine kinase inhibitors (ZD1839 and 051-774) have been assessed and have been most extensively studied In preclinical models and clinical trials. Additional TKIs In clinical trials include a reversible agent, Cl-1033, which blocks activation of all erbB receptors. Encouraging preclinical data for head and neck cancers resulted In rapid translation Into the clinic. Results from Initial clinical trials show rather surprisingly that only minority of patients benefited from EGFR inhibition as monotherapy or In combination with chemotherapy. In this review, we begin with a brief summary of erbB- mediated signal transduction. Subsequently, we present data on prognostic-predictive value of erbB receptor expression in HNC followed by preclinlcal and clinical data on the role of EGFR antagonists alone or in combination with radiation In the treatment of HNC. Finally, we discuss the emerging thoughts on resistance to EGFR biockade and efforts In the development of multiple-targeted therapy for combination with chemotherapy or radiation. Current challenges for investigators are to determine (1 ) who will benefit from targeted agents and which agents are most appropriate to combine with radiation and/or chemotherapy, (2) how to sequence these agents with radiation and/or cytotoxlc compounds, (3) reliable markers for patient selection and verification of effective blockade of signaling in vivo, and (4) mechanisms behind intrinsic or acquired resistance to targeted agents to facilitate rational development of multi-targeted therapy, Other molecuiar-targeted approaches In head and neck cancer were briefly described, Including angloenesis Inhibitors, farnesyl transferase inhibitors, cell cycle regulators, and gene therapy Summary: Novel targeted theraples are highly appealing in advanced head and neck cancer, and the most premising strategy to use them Is a matter of intense Investigation.

• Korean Journal of Clinical Laboratory Science
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• v.48 no.3
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• pp.255-261
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• 2016

The purpose of this study was to investigate the relationship between excessive daytime sleepiness (EDS) and blood pressure (BP) in patients with obstructive sleep apnea-hypopnea (OSAH). Patients were classified into four groups based on their severity of polysomnographic data: the snoring group (n=108)-characterized by Apnea-Hypopnea Index (AHI<5); the mild OSA group (n=186)-AHI $5{\leq}AHI$<15; the moderate OSA group (n=179)- AHI $15{\leq}AHI$<30; and the severe OSA group (n=233)-$AHI{\geq}30$. On the same night of polysomnography (PSG), BP levels were measured before sleeping (bedtime BP) and immediately after waking up on the following morning (morning BP). EDS was recognized as ESS (epworth sleepiness scale)${\geq}9$. The differences and correlations between BP and PSG parameters in the EDS and non-EDS groups of OSAH patients were analyzed. MAP was positively correlated with BMI, AHI, and total arousal (r=0.099, r=0.142, r=0.135, p<0.01, p<0.01, p<0.01), while negatively correlated with mean $SaO_2$ (r=-0.258, p<0.01). The EDS group had overall younger population ($47.2{\pm}11.3$ vs $50.3{\pm}11.4$, p=0.023), higher DBP (both bedtime and morning, $83.1{\pm}9.7$ vs $81.4{\pm}8.8$ and $86.4{\pm}9.2$ vs $83.6{\pm}9.7$)(p=0.031, p=0.047), and higher SBP (both bedtime and morning, $126.7{\pm}11.2$ vs $123.4{\pm}12.4$, $128.9{\pm}12.4$ vs $125.3{\pm}12.9$)(p=0.021, p=0.021) than compared with the non-EDS group. In hypertensive OSAH patients, patients with EDS were also younger and had higher total arousal number, as well as higher morning and bedtime DBP and SBP than compared with the non-EDS group (p<0.005, p=0.008, p<0.001 and p<0.001). EDS in OSAHS patients is a special phenotype characterized by younger age, higher DBP, more severe desaturation, and hypertension.

• Clinical and Experimental Pediatrics
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• v.49 no.4
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• pp.381-387
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• 2006

Purpose : Neonatal lupus is characterized by congenital complete heart block(CCHB), cutaneous rash, and laboratory abnormalities in infants born to mothers with systemic lupus erythematosus(SLE). This study aims to examine the incidence of CCHB and clinical outcome in neonates born to mothers with SLE. Methods : The study group consisted of 49 neonates, born from 57 pregnancies of 55 women with SLE, diagnosed at Hanyang University Hospital for the period between January 1997 and January 2005. Clinical and laboratory data were retrospectively identified from medical record. Results : There were 5(8.8 percent) spontaneous abortions and one(1.8 percent) still births among 57 pregnancies of 55 mothers. Of 49 live births, 15(26.3 percent) were premature and eight(12.3 percent) were small for their gestational age. There was one(1.8 percent) CCHB suspected during pregnancy on fetal echocardiograpy in a fetus of mother with systemic lupus erythematosus and the fetus was not born by artificial abortion because of mother. There was no CCHB among EKG findings of 49 newborns. Laboratory testing showed hematologic abnormalities among 25.6 percent(10/39) of the babies. 5.1 percent(2/39) and 7.7 percent(3/39) of them were diagnosed as neutropenia, and thrombocytopenia was seen respectively. Anti-SSA(Ro) and antiphospholipid antibodies were predictive factors for prematurity(P=0.003, P=0.049). Anticardiolipin antibodies were predictive factors for ventilatory care(P=0.018). Conclusion : The incidence of CCHB among neonates born to mothers with SLE, which was measured in this study, was lower than that in earlier studies. A high incidence of hematologic abnormalities was found in our study. It is suggested that careful examination should be made of skin for the diagnosis of neonatal lupus.

• Journal of Life Science
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• v.18 no.12
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• pp.1657-1664
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• 2008

We determined the prevalence of human papillomavirus (HPV) by DNA chip test in 549 women and cytologic diagnosis. 237 of 549 women (43.17%) subjected with HPV DNA Chip examination were found positive for HPV. 210 (88.60%, High group) were infected with high-risk HPV types. 17 (7.17%, Low group) were infected with low-risk HPV types (6, 11, 40, 44, 70) and 17 (7.17%, Mixed group) were infected with mixed types. According to age, in their twenties, thirties, forties, fifties and over sixties, the prevalence of infection with high-risk HPV types were 1.26% (3/237), 15.61% (37/237), 31.65% (75/237), 23.21% (55/237), and 13.92% (33/237), respectively. In the Low and Mixed group, percentages of infection with HPV were significantly lower than that of the High group. On the comparison of cytologic diagnosis (224 women) by Pap smear and DNA chip positive (237 women) for HPV, 132 out of 194 cases in the High group (68.04%) suffered cervical lesions with ASCUS (atypical squamous cells of undetermined significance, 7.22%), LSIL (low grade squamous intraepithelial lesion, 15.98%), HSIL (high grade SIL, 23.20%) and ICC (invasive cervical cancer, 21.65%). The Low group (14/224 women) showed 1 case of ASCUS and 6 cases of LSIL, whereas the Mixed group (4/224 women) had only 2 cases of ASCUS. According to the HPV subtypes, the high-risk types 16 and 18 induced 26 and 7 cases of ICC, respectively, whereas other HPV subtypes induced lower or no ICC incidence. In conclusion, the present data imply that the prevalence of HPV was 43.17%, high-risk HPV type 16 is a major factor, which causes precancerous and/or cervical cancer in woman and that HPV DNA chip is an accurate and useful tool for detecting HPV.

• Korean Journal of Clinical Laboratory Science
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• v.49 no.4
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• pp.439-445
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• 2017

In recent years, change in life patterns gave rise to an increase in the number of families with companion animals, and as a result, frequent dermatophytes infections have been reported. Microsporum canis, Trichophyton mentagrophytes, and Trichophyton verrucosum, are among these species of zoophilic dermatophytes. Trichophyton mentagrophytes are transmitted to humans by contact with wild animals. Infection from it causes strong inflammation in humans. Conversely, Trichophyton verrucosum is transmitted by contact with cattles. Microsporum canis will become latent carriers in cats or dogs, causing infectious diseases when it comes in contact with humans. We investigated zoophilic dermatophytes isolated according to annual, sex, age, season, body sites, and clinical types between 2010 and 2016. According to our results, the isolation rate of zoophilic dermatophytes was 0.37%, among which, 88 T. mentagrophytes, 228 Microsporum canis, and 18 Trichophyton verrucosum were isolated in human. It is interesting to note that Microsporum canis has been on the rise since 2014. Microsporum canis and Trichophyton verrucosum were highly isolated in females, but T. mentagrophytes was isolated similarly in both sexes. According to an age-based survey, the isolation rate was higher in children younger than 10 years. Our results is a valuable data for predicting and studying the isolation of zoophilic dermatophytes in the future.

• Tuberculosis and Respiratory Diseases
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• v.53 no.2
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• pp.173-182
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• 2002

Background : Nontuberculous mycobacteria (NTM) have usually been considered to be contaminants of colonizers when isolated from respiratory specimens in Korea, where there is a high prevalence of tuberculosis and a low rate of HIV infections. Therefore, there has been few studies on the clinical significance of NTM species in immunocompetent patients were investigated. Methods : Thirty-five NTM isolates, for which species identification was requested by the treating physicians during 1999 at the Asan Medical Center, were retrospectively analyzed. They were identified to the species level by mycolic acid analysis using high-performance liquid chromatography. The medical records of the patients with the NTM isolates were reviewed to identify those patients who met the American Thoracic Society (ATS)'s criteria for mycobacterial pulmonary infection. Their antimicrobial susceptibility data were compared with the clinical outcomes. Results : The NTM were identified as M. intracellulare (6 isolates), M. avium (5), M. abscessus (5), M. gordonae (5), M. terrae complex (4), M. szulgai (2), M. kansasii (2), M. fortuitum (2), M. peregrinum (1), M. mucogenicum (1), M. celatum (1), and M. chelonae (1). All 35 patients showed clinical symptoms and signs of chronic lung disease, but none had a HIV infections; 16 (45.7%) patients were found to be compatible with a NTM pulmonary infection according to the ATS criteria, 5 and 4 cases were affected with M. intracellulare and M. abscessus, respectively; 8 patients had a history of pulmonary tuberculosis. 13 patients received antimycobacterial therapy for an average of 21 months and 9 patients were treated with second-line drugs. Only 4 patients had improved radiologically. Conclusion : A NTM should be considered a potential pathogen of pulmonary infections in immunocompetent patients with chronic pulmonary diseases. Most NTM infections were left untreated for a prolonged period and showed a poor outcome as a result, M. intracellulare and M. abscessus were the two most frequent causes of NTM pulmonary infections in this study. Species identification and antimycobacterial susceptibility tests based on the species are needed for the optimum management of a NTM pulmonary infection in patients.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.7 no.1
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• pp.31-39
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• 2004

Purpose: Although acute nonspecific mesenteric lymphadenitis (ANML) is probably common cause of abdominal pain in children, which can be severe enough to be an abdominal emergency, the clinical features of mesenteric lymphadenitis are not clear. Also, a differential diagnosis with acute appendicitis (APPE) is indispensable to avoid serious complications. The clinical features of ANML were determined, and the risk factors for differential diagnosis with APPE were analyzed. Methods: Between November 2000 and May 2001, data from 26 patients (aged 1 to 11 years) with ANML and 21 patients (aged 2 to 13 years) with APPE were reviewed. ANML was defined as a cluster of five or more lymph nodes measuring 10 mm or greater in their longitudinal diameter in the right lower quadrant (RLQ) without an identifiable specific inflammatory process on the ultrasonographic examination. There were risk factors on patient's history, physical examination, and laboratory examination; the location of abdominal pain, abdominal rigidity, rebound tenderness, fever, nocturnal pain, the vomiting intensity, the diarrhea intensity, the symptom duration, and the peripheral blood leukocytes count. Results: Of the 26 ANML patients and 21 APPE patients, abdominal pain was noted on periumbilical (76.9% vs 14.2%), on RLQ (11.5% vs 71.4%), with abdomen rigidity (7.6% vs 80.9%), with rebound tenderness (0.0% vs 76.1%)(p<0.05), in the lower abdomen (11.5% vs 14.2%), and at night (80.8% vs 100.0%) (p>0.05). The clinical symptoms were vomiting (38.4% vs 90.4%), the vomiting intensity ($1.5{\pm}0.7$ [1~3]/day vs $4.5{\pm}2.9$ [1~10]/day), diarrhea (65.3% vs 28.5%) (p<0.05), and fever (61.5% vs 76.2%)(p>0.05). The period to the subsidence of abdominal pain in the ANMA patients was $2.5{\pm}0.5$ (2~3) days. The laboratory data showed a significant difference in the peripheral blood leukocytes count ($8,403{\pm}1,737[5,900{\sim}12,300]/mm^3\;vs\;15,471{\pm}3,749[5,400{\sim}20,800]/mm^3$)(p<0.05). Discriminant analysis between ANML and APPE showed that the independent discriminant factors were a vomiting intensity and the peripheral blood leukocytes count and the discriminant power was 95.7%. Conclusion: The clinical characteristics of ANML were abrupt onset of periumbilical pain without rigidity or rebound tenderness, a mild vomiting intensity, normal peripheral leukocytes count, and relatively short clinical course. If the abdominal pain persist for more than 3 days, and/or the vomiting intensity is more than 3 times/day, and/or the peripheral leukocytes count is over $13,500/mm^3$, abdominal ultrasonography is recommended to rule out APPE.

• IMMUNE NETWORK
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• v.1 no.3
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• pp.236-243
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• 2001

Background: An immunological approach for aging mechanism appears to be important. Lymphocyte subsets analysis in peripheral blood is widely performed to assess the immune status and to diagnose and monitor various diseases. Some lymphocyte subsets are known to change with age, but only few data about age-related reference ragnes for these subsets in healthy individuals have been reported. So we attempted to report reference ranges for these subsets in each age group and review changes of the results with age for the secondary studies about immune cell function as lymphocyte blast transformation and immunoglobulin gene rearrangement (VDJ) including recombination activating genes (RAG-1 and RAG-2). Methods: Lymphocyte subset analysis was performed on 302 subjects, 189 males and 113 females with age group of all decades of life. Two color direct immunofluorescene flow cytometry (FCM) was done using $Simultest^{TM}$ IMK-Lymphocyte kit (Becton Dickinson, USA), $FACScan^{TM}$ (Becton Dickinson, USA) and $FACSCalibur^{TM}$ (Becton Dickinson, USA). Lymphocyte subsets analysed were T ($CD3^+$) and B cells ($CD19^+$), helper/inducer T ($CD4^+$) and suppressor/cytotoxic T cells ($CD8^+$), helper/suppressor ($CD4^+/CD8^+$) ratio and natural killer (NK) cells ($CD3^-CD16^+/CD56^+$). The absolute numbers of each subset were calculated from total lymphocyte counts. Data collected was analysed using SAS 6.12. A P-value of < 0.05 was considered significant. Results: We reported the counts and percentages of lymphocyte and these subsets in each age group. There were no statistically significant differences between male and female subjects. The percentage of $CD4^+$ T cells, and the count of NK cells did not show the significant difference among the various age groups. The age-related changes observed in our study were as following: 1) a decrease in the percentages of T cells, B cells and $CD8^+$ T cells ; 2) a decrease in the counts of B cells and $CD8^+$ T cells ; 3) an increase in the percentage and count of NK cells ; and 4) an increase in the $CD4^+/CD8^+$ ratio. Conclusion: The characteristics of aging process appeared to be showing a marked decrease of lympocyte subsets T and B cells as well as T8 ($CD8^+$). The age-related increase of the percentage of cells bearing NK marker can be interpreted as a compensatory consequence to cope with the decrease of T cells related to the thymic involution. These changes with age appeared to be for the secondary study about immune cell function as lymphocyte blast transformation and immunoglobulin gene rearrangement.