Park, Sang Jo;Hwang, Tae Gyu;Son, Byeong Hee;Kim, Chul Min
Clinical and Experimental Pediatrics
/
v.45
no.10
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pp.1263-1272
/
2002
Purpose : Rett syndrome(RTT) is an X-linked dominant neurodevelopmental disorder affecting 1 per 10,000-15,000 female births worldwide. It was initially described by Andreas Rett in 1966. RTT involves developmental regression characterized stereotypic hand movements, tremors, gait apraxia, seizures, deceleration of head growth after the age of 6-18 months. The disease-causing gene was identified as MECP2 on chromosome Xq28. We carried out mutational analysis of MECP2 genes in RTT patients. Methods : Whole blood(5 cc) of 34 sporadic RTT patients was collected in EDTA-anticoagulated tubes. Genomic DNA was extracted from peripheral blood using the E.Z.N.A. blood DNA kit. Four exons of the MECP2 gene were amplified by PCR in 34 Korean with RTT. We carried out PCR divided the exon three into two parts and the exon four into five parts. Primer sequences designed by Amir et al. in 1999 were almost used(AF030876). Sequencing primers used were the same as PCR. DNA sequencing reactions were performed using an ABI 377 DNA sequencer and ABI PRISM dye terminator cycle sequencing reaction kit(Perkin-elmer). The results were compared with the normal DNA sequence(X99686). To confirm the change of sequence on novel mutations, RFLP analysis was performed. Results : The MECP2 mutations were detected in 23(67.6%) of the 34 patients. The mutations consisted of 12 different types including nine missense and three nonsense mutations. Of these, three (L100V, G161E and T311M) mutations were newly identified. Most of the mutations discovered are located within MBD(39.1%) and TRD(39.1%). In this study, three(T158M, R270X, R306C) mutations were identified high frequency. Conclusion : MECP2 gene was also an important cause of Korean RTT patients. MECP2 gene study is an important tool for diagnosis of Korean RTT patients.
Background : Since endotracheal tube is the most important factor involved in the imposed work of breathing during mechanical ventilation, extubation of endotracheal tube is supposed to reduce respiratory work of patient. However, some patients show labored breathing after extubation despite acceptable blood gases. We investigated the changes of work of breathing before and after extubation and the factors involved in the change of WOB after extubation. Methods : The subjects were 34 patients(M : F = 20 : 14, mean age = $61{\pm}17yre$) who recovered from respiratory failure after ventilatory support and were considered to be ready for extubation. The patients with clinical or radiologic evidences of upper airway obstruction before endotracheal intubation for mechanical ventilation were excluded. Vital sign, physical examination, chest X-ray, work of breathing and other respiratory mechanic indices were measured prior to, immediately, 6, 24 and 48 hours after extubation serially. Definition of weaning failure after extubation was resumption of ventilatory support or reintubation of endotracheal tube within 48 hour after extubation because of respiratory failure. The patients were classified into group 1(decreased work of breathing), group 2(unchanged work of breathing) and group 3(increased work of breathing) depending on the statistical difference in the change of work of breathing before and after extubation. Results : Work of breathing decreased in 33%(11/34, group 1), unchanged in 41%(14/34, group 2) and increased in 26%(9/34, group 3) of patients after extubation compared with before extubation. Weaning failure occurred 9%(1/11) of group, 1, 28.6%(4/14) of group 2 and 44%(4/9) of group 3 after extubation(p = 0.07). The change of work of breathing after extubation was positively correlated with change of mean airway resistance(mRaw). (r = 0.794, p > 0.01). In three cases of group 3 whose respiratory indices could be measured until 48 hr after extubation, the change in work of breathing paralleled with the sequential change of mRaw. The work of breathing was peaked at 6 hr after extubation, which showed a tendency to decrease thereafter. Conclusions : Reversible increase of work of breathing after extubation may occur in the patients who underwent extubation, and the increase in mRaw could be responsible for the increase in work of breathing. In addition, the risk of weaning failure after extubation may increase in the patients who have increased WOB immediately after extubation.
Jo, Kyung Uk;Park, Soo Jung;Hong, Seok Chan;Oh, Yeon-Mok;Lee, Sang Do;Kim, Woo Sung;Kim, Dong Soon;Kim, Won Dong;Shim, Tae Sun
Tuberculosis and Respiratory Diseases
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v.62
no.2
/
pp.98-104
/
2007
Background: Although there is an increasing incidence of Mycobacterium abscessus pulmonary disease in Korea, the optimal therapeutic regimen has not yet been established and there are no reports of the long-term treatment outcomes. This study examined the long-term treatment outcomes of M. abscessus pulmonary disease. Methods: Twenty-nine patients diagnosed with M. abscessus pulmonary according to the American Thoracic Society criteria and treated from January 1996 to December 2003 were enrolled in ghis study. The clinical characteristics, radiological findings, treatment outcome, and follow up data were analyzed retrospectively. Results: The mean age of the 29 patients was 56.1 (${\pm}13.6$) years and there was a female (22/29) dominance. The chest radiography revealed the nodular bronchiectatic type to be dominant (69%, 20/29). Twenty-seven (93.1%) were prescribed clarithromycin-containing regimens, and injectable drugs, mainly aminoglycosides, were included in the regimen of nineteen patients. The most predominant regimen (48.3%) consisted of clarithromycin and amikacin. The treatment success, failure, and default were achieved in 19(65.5%), 9(31.0%), and 1(3.4%), respectively. The median duration to culture conversion was 42 days (range 15-362) and the median duration of treatment in the success group was 543 days (range 176-1,160). An adjunctive surgical resection was performed in five patients, which resulted in treatment success in two patients. After the completion of treatment, nineteen patients were followed up for a median duration of 931 days (range 230-2,294). Only one (5.3%) patient relapsed 45 days after completing treatment. Conclusion: Treatment with clarithromycin-containing regimens resulted in a successful treatment in approximately two thirds of patients with M. abscessus pulmonary disease. The long-term relapse rate was also quite low.
Huh, Jin Won;Jegal, Yangjin;Hong, Sang-Bum;Oh, Yeon Mok;Shim, Tae Sun;Lim, Chae-Man;Lee, Sang Do;Kim, Woo Sung;Kim, Dong Soon;Kim, Won Dong;Koh, Younsuck
Tuberculosis and Respiratory Diseases
/
v.62
no.2
/
pp.113-118
/
2007
Background: Paraquat is known to induce oxidant injury that results in multiorgan failure and lung fibrosis. Iron has been considered to play a key role in paraquat-induced oxidant lung injury. This study examined the effect of deferoxamine, an iron-chelating agent, in the treatment of paraquat poisoning. Methods: From September, 2001 to April, 2005, 28 patients with paraquat poisoning who were admitted at a medical intensive care unit of a University-affiliated hospital, were enrolled in this study. Sixteen patients were treated according to the paraquat poisoning treatment guidelines and 12 received an intravenous infusion of deferoxamine in addition to the treatment guidelines. Results: There were no differences between the two groups in terms of age, gender, severity of paraquat poisoning, and the time elapsed from ingestion to presentation at hospital. There was no difference in overall mortality between the two groups but the incidence of respiratory failure in the deferoxamine group was higher than in the conventional group(4/7 versus 0/9, p=0.019). Conclusion: Deferoxamine seems to have no clinical benefit compared with the conventional treatment.
BPES (Blepharophimosis/Ptosis/Epicanthus inversus Syndrome) is an autosomal dominant disorder caused by mutations in FOXL2. Affected individuals have premature ovarian failure (POF) in addition to small palpebral fissures, drooping eyelids, and broad nasal bridge. FOXL2 is a member of the forkhead family transcription factors. In FOXL2-deficient ovaries, granulosa cell differentiation dose not progress, leading to arrest of folliculogenesis and oocytes atresia. Using yeast two-hybrid screening of rat ovarian cDNA library with FOXL2 as bait, we found that small ubiquitin-related modifier (SUMO)-conjugating E2 enzyme UBE2I protein interacted with FOXL2 protein. UBE2I also known as UBC9 is an essential protein for processing SUMO modification. Sumoylation is a form of post-translational modification involved in diverse signaling pathways including the regulation of transcriptional activities of many transcriptional factors. In the present study, we confirmed the protein-protein interaction between FOXL2 and UBE2I in human cells, 293T, by in vivo immunoprecipitation. In addition, we generated truncated FOXL2 mutants and identified the region of FOXL2 required for its association with UBE2I using yeast-two hybrid system. Therefore, the identification of UBE2I as an interacting protein of FOXL2 further suggests a presence of novel regulatory mechanism of FOXL2 by sumoylation.
This study was conducted to obtain the basic information on salt-tolerance of rice cultivars in relations with growth retardation and cation content. As the salt-level increased, less retardation in plant height and dry weight were shown in salt-tolerant than salt-susceptible rice cultivars. Salt tolerant cultivars showed lower N $a^{+}$ and higher $K^{+}$ content and lower N $a^{+}$ / $K^{+}$ ratio at each salt-levels than salt-susceptible ones, while there were no significant differences in $Ca^{++}$ and $Mg^{++}$ content. At the tillering stage, the plant height and dry weight of the salt-treated plots were significantly correlated with N $a^{+}$ and $K^{+}$ content and N $a^{+}$ / $K^{+}$ ratio, implying that N $a^{+}$ and $K^{+}$ content could be an indicator of salt-tolerance of a rice cultivar. There were no tiller-depending differences in cation content in all cultivars. N $a^{+}$ content and N $a^{+}$ / $K^{+}$ ratio in leaves were lower at the top and higher at the bottom. In three $F_1$ hybrids between salt tolerant parent Pokkali and three salt susceptible parents, plant height, dry weight, $K^{+}$ content and N $a^{+}$ / $K^{+}$ ratio were similar to those of Pokkali parent, while N $a^{+}$ content was intermediate of the parents. So, it seemed that salt tolerance is dominant over salt susceptibility. In $F_2$ of Pokkali/wx817 cross, genetic segregation of plant height, dry weight, $K^{+}$ content and N $a^{+}$ / $K^{+}$ ratio varied continuously and was biased onto Pokkali side, while that of N $a^{+}$ content showed normal distribution with intermediate mode. Broad-sense heritability of the characters ranged from 0. 604 to 0. 811. Genotypic and phenotypic correlation coefficients among them were relatively high.fficients among them were relatively high.h.h.
Due to the effects of rapid changes in the living environment since 2000 and the recent unforeseen pandemic, people are refraining from domestic and international traveling and movement, and outdoor activities for health and the public value of forest trails, called Dullegil Trail in Korea, have become more important. This study estimated the environmental value of the tentatively named "East-West Trail," which connects the forest trails crossing Chungcheong and Gyeongsang Provinces using CVM (Contingent Valuation Method). It surveyed visitors to the East-West Trail, and 725 questionnaires were used for analysis. The average characteristics of respondents were those who exercised 2-3 times per week, visited a forest trail not far from their residence with friends or family, and showed a tendency to spend 50 thousand Korean won or more per visit. Visitors to the Dullegil Trail felt that there was a shortage of information boards on the forest trail, and they preferred a shelter in appropriate locations. We used a double-bounded dichotomous choice (BDDC) logit model proposed by Hanemann to measure the conservation value of the East-West Trail. It was estimated that the environmental value that a visitor to the East-West Trail could obtain was 30,087 won per trip. The estimated environmental value of the East-West Trail can be converted to about 94 billion won total visitors annually based on the population belonging to the direct-use zone near the East-West Trail. As there has been no study on the environmental value of forest trails using CVM, the results of this study will be able to suggest the feasibility of the government policies on forest trails.
Lee, Jae Seung;Chung, Joo Won;Koh, Yunsuck;Lim, Chae-Man;Jung, Young Joo;Oh, Youn Mok;Shim, Tae Sun;Lee, Sang Do;Kim, Woo Sung;Kim, Dong-Soon;Kim, Won Dong;Hong, Sang-Bum
Tuberculosis and Respiratory Diseases
/
v.59
no.5
/
pp.522-529
/
2005
Background : Several national societies have published guidelines for empirical antimicrobial therapy in patients with severe community-acquired pneumonia (SCAP). This study investigated the etiologies of SCAP in the Asan Medical Center and assessed the relationship between the initial empirical antimicrobial regimen and 30 day mortality rate. Method : retrospective analysis was performed on patients with SCAP admitted to the ICU between March 2002 and February 2004 in the Asan Medical Center. The basic demographic data, bacteriologic study results and initial antimicrobial regimen were examined for all patients. The clinical outcomes including the ICU length of stay, the ICU mortality rate, and 30 days mortality rates were assessed by the initial antimicrobial regimen. Results : One hundred sixteen consecutive patients were admitted to the ICU (mean age 66.5 years, 81.9 % male, 30 days mortality 28.4 %). The microbiologic diagnosis was established in 58 patients (50 %). The most common pathogens were S. pneumoniae (n=12), P. aeruginosae (n=9), K. pneumonia (n=9) and S. aureus (n=8). The initial empirical antimicrobial regimens were classified as: ${\beta}$-lactam plus macrolide; ${\beta}$-lactam plus fluoroquinolone; anti-Pseudomonal ${\beta}$-lactam plus fluoroquinolone; Aminoglycoside combination regimen; ${\beta}$-lactam plus clindamycin; and ${\beta}$-lactam alone. There were no statistical significant differences in the 30-day mortality rate according to the initial antimicrobial regimen (p = 0.682). Multivariate analysis revealed that acute renal failure, acute respiratory distress syndrome and K. pneumonae were independent risk factors related to the 30 day mortality rate. Conclusion : S. pneumoniae, P. aeruginosae, K. pneumonia and S. aureus were the most common causative pathogens in patients with SCAP and K. pneumoniae was an independent risk factor for 30 day mortality. The initial antimicrobial regimen was not associated with the 30-day mortality.
Lung cancer study group at Asan Medical Center has conducted the second prospective study to determine the efficacy and feasibility of MVP chemotherapy with concurrent hyperfractionated radiotherapy for Patients with stage III unresectable non-small cell lung cancer(NSCLC). All eligible Patients with stage III unresectable NSCLC were treated with hyperfractionated radiotherapy(120 cGy/fx BID. 6480 cGy/54fx) and concurrent 2 cycles of MVP(Mitomycin C $6mg/m^2,$ d2 & d29.Vinblastine $6mg/m^2,$ d2 & d29, Cisplatin $60mg/m^2,$ dl & d28) chemotherapy. Between Aug. 1993 and Nov. 1994, 62 patients entered this study; $6(10\%)$ had advanced stage IIIa and $56(90\%)$ had IIIb disease including 11 with pleural effusion and 10 with supraclavicular metastases. Among 62 patients, $48(77\%)$ completed planned therapy. Fourteen patients refused further treatment during chemoradiotherapy. Of 46 patients evaluable for response, $34(74\%)$ showed major response including $10(22\%)$ with complete and $24(52\%)$ with partial responses. Of 48 patients evaluable for toxicity, $13(27\%)$ showed grade IV hematologic toxicity but treatment delay did not exceed 5 days Two patients died of sepsis during chemoradiotherapy. Severe weight loss(more than $10\%)$ occurred in 9 patients$(19\%)$ during treatment. Nine patients$(19\%)$ developed radiation pneumonitis Six of these patients had grade 1 (mild) Pneumonitis with radiographic changes within the treatment fields Three other patients had grade 11 Pneumonitis, but none of these patients had continuous symptoms after steroid treatment. Concurrent chemoradiotherapy for patients with advanced NSCLC was well tolerated with acceptable toxicity and achieved higher response rates than the first study, but rather low compliance $rate(77\%)$ in this study is worrisome. We need to improve nutritional support during treatment and to use G-CSF to improve leukopenia and if necessary. supportive care will be given as in patients, Longer follow-up and larger sample size is needed to observe survival advantage.
Kim, Dong-Soon;Choi, Kang-Hyun;Yeom, Ho-Kee;Park, Myung-Jae;Lim, Chai-Man;Koh, Yoon-Suck;Kim, Woo-Sung;Kim, Won-Dong
Tuberculosis and Respiratory Diseases
/
v.42
no.4
/
pp.569-583
/
1995
Background: The expression of the adhesion molecules on the cell surface is important in the movement of cells and the modulation of immune response. DILD starts as an alveolitis and progresses to pulmonary fibrosis. So adhesion molecules in these patients is expected to be increased. There are several reports about adhesion molecules in DILD in terms of the percentage of positive cells in immuno-stain, in which the interpretation is subjective and the data were variable. Methods: So we measured the relative median fluorescence intensity(RMFI) which is the ratio of the FI emitted by bound primary monoclonal antibody to FI emitted by isotypic control antibody of the cells in BALF of 28 patients with DILD(IPF:10, collagen disease:7, sarcoidosis:9, hypersensitivity pneumonitis:2) and 9 healthy control. Results: RMFI of the ICAM-1 on AM($3.30{\pm}1.16$) and lymphocyte($5.39{\pm}.70$) of DILD were increased significantly than normal control($0.93{\pm}0.18$, $1.06{\pm}0.21$, respectively, p=0.001, P=0.003). RMFI of the CD18 on lymphocyte was also higher($24.9{\pm}14.9$) than normal($4.59{\pm}3.77$, p=0.0023). And there was a correlation between RMFI of ICAM on AM and the % of AM(r=-0.66, p=0.0001) and lymphocyte(r=0.447, p=0.0116) in BALF. Also RMFI of ICAM on lymphocyte had a significant (r=0.593, p=0.075) correlation with the % of IL-2R(+) lymphocyte in BALF. The soluble ICAM(sICAM) in serum was also significantly elevated in DILD($499.7{\pm}222.2\;ng/ml$) compred to normal($199.0{\pm}38.9$) (p=0.00097) and sICAM in BAL fluid was also significantly higher than normal control group($41.8{\pm}23.0\;ng/ml$ vs $20.1{\pm}13.6\;ng/ml$). There was a Significant correlation between sICAM level in serum and the expression of ICAM-l on AM(r=0.554, p=0.0259).Conclusion: These data suggest that in DILD the expression of adhesion molecules is increased in the AM and BAL lymphocytes with elevated serum sICAM, and these parameter may be useful in determining disease activity.
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