• Journal of The Korean Society of Inherited Metabolic disease
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• v.19 no.1
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• pp.20-25
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• 2019

Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (OMIM#201475) is an autosomal recessively inherited metabolic disorder of mitochondrial long-chain fatty acid oxidation. The clinical features of VLCAD deficiency is classified by three clinical forms according to the severity. Here, we report a case of later-onset episodic myopathic form of VLCAD deficiency whose diagnosis was confirmed by plasma acylcarnitine analysis and" multigene panel multigene panel sequencing. A 34-year old female patient visited genetics clinic for genetic evaluation for history of recurrent myopathy with intermittent rhabdomyolysis. She suffered first episode of rhabdomyolysis with acute renal failure requiring hemodialysis at twelve years old. After then, she suffered several times of recurrent rhabdomyolysis provoked by prolonged exercise or fasting. Physical and neurologic exam was normal. Serum AST/ALT and creatinine kinase (CK) levels were mildly elevated. However, according to her previous medical records, her AST/ALT, CK were highly elevated when she had rhabdomyolysis. In suspicion of fatty acid oxidation disorder, multigene panel sequencing and plasma acylcarnitine analysis were performed in non-fasting, asymptomatic condition for the differential diagnosis. Plasma acylcarnitine analysis revealed elevated levels of C14:1 ($1.453{\mu}mol/L$; reference, 0.044-0.285), and C14:2 ($0.323{\mu}mol/L$; 0.032-0.301) and upper normal level of C14 ($0.841{\mu}mol/L$; 0.065 -0.920). Two heterozygous mutation in ACADVL were detected by multigene panel sequencing and confirmed by Sanger sequencing: c.[1202G>A(;) 1349G>A] (p.[(Ser 401Asn)(;)(Arg450His)]). Diagnosis of VLCAD deficiency was confirmed and frequent meal with low-fat diet was educated for preventing acute metabolic derangement. Fatty acid oxidation disorders have diagnostic challenges due to their intermittent clinical and laboratorial presentations, especially in milder late-onset forms. We suggest that multigene panel sequencing could be a useful diagnostic tool for the genetically and clinically heterogeneous fatty acid oxidation disorders.

• Korean journal of applied entomology
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• v.24 no.2 s.63
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• pp.65-70
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• 1985

The locational preference of the brown planthopper (BPH) Nilaparvata lugens ($St{\aa}l$) and the whitebacked plant hopper (WBPH) Sogatella furcifera(Horvath) was studied on rice cultivars IR22 and IR36 as an integral part of subsequent research on insect-fungal pathogen relationships. The BPH was observed to stay consistently on the basal portion while the WBPH showed a general preference for the upper portion regardless of varieties, rice growth stages and insect population density levels. The habitat preference of both species (BPH and WBPH) was found not to be affected by the presence of the other species when both species are present on the same host plant Five rice cultivars with different reactions to BPH biotype 2 were used in the study on BPH-Rhizoctonia solani relationship: IR22 and TN1 (susceptible); Triveni and ASD7 (moderately resistant); and IR42 (resistant). Test plants were inoculated with R. solani (Kuhn) $3{\sim}4$days after insect infestation. Sheath blight disease severity/incidence was significantly higher in the treatment where BPH+R. solani were together than in the treatment with only the pathogen. Symptom expression of the disease in the BPH-pathogen combination was faster and mycelial growth was more profuse inducing the formation of more infection structures. Regardless of varietal reaction to BPH biotype 2, the degree of hopperburn was significantly higher in the combination of the two pests as compared with that of BPH alone. There could be a synergistic relationship between the insect pest and the pathogen indicated by a positive interaction between the two species.

• Childhood Kidney Diseases
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• v.9 no.2
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• pp.175-182
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• 2005

Purpose : Interleukin 1 receptor antagonist(IL-1ra) is an endogenous antiinflammatory agent that binds to IL-1 receptor and thus competitively inhibits the binding of IL-1$\alpha$ and IL-1$\beta$. Allele 2 in association with various autoimmune diseases has been reported. In order to evaluate the influence of IL-1ra gene VNTR polymorphism on the susceptibility to HSP and its possible association with disease severity, manifested by severe renal involvement and renal sequelae, we studied the incidence of carriage rate and allele frequency of the 2 repeats of IL-1ra allele 2($IL1RN^{*}2$) of the IL-1ra gene in children with HSP with and without renal involvement. Methods : The IL-1ra gene polymorphisms were determined in children with HSP with(n=40) or without nephritis(n=34) who had been diagnosed at Busan Paik Hospital and the control groups(n=163). Gene polymorphism was identified by PCR amplification of the genomic DNA. Results : The allelic frequency and carriage rate of $IL1RN^{*}1$ were found most frequently in patients with HSP and in controls. The allelic frequency of $IL1RN^{*}2$ was higher in patients with HSP compared to that of controls($4.7\%\;vs.\;2.5\%$, P=0.794). The carriage rate of $IL1RN^{*}2$ was higher In patients with HSP compared to that of controls($8.1\%\;vs.\;6.8\%$, P=0.916). The allelic frequency of $IL1RN^{*}2$ was higher in patients with HSP nephritis compared to that of HSP($5.3\%\;vs.\;2.9\%$, P=0.356). The carriage rate of $IL1RN^{*}2$ was higher in Patients with HSP nephritis compared to that of HSP($10.0\%\;vs.\;5.9\%$, P=0.523). Among 13 patients with heavy proteinuria(>1.0 g), 11 had $IL1RN^{*}1$, 1 had $IL1RN^{*}2$ and the others had $IL1RN^{*}4$. At the time of last follow up 4 patients had sustained proteinuria and their genotype was $IL1RN^{*}1$. Conclusion : The allelic frequency and carriage rate of $IL1RN^{*}1$ were found most frequently in patients with HSP and in controls. Our study suggests that the carriage rate and allele frequency of the 2-repeats of IL-1lra allele 2($IL1RN^{*}2$) of the IL-1ra gene may not be associated with susceptibility and severity of renal involvement in children with HSP (J Korean Soc Pediatr Nephrol 2005;9:175-182)

• Tuberculosis and Respiratory Diseases
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• v.54 no.3
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• pp.311-319
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• 2003

Background : Previous studies have suggested that a B-type natriuretic peptide(BNP) test can provide important information on diagnosis, as well as predicting the severity and prognosis of heart failure. Myocardial dysfunction is often observed in critically ill noncardiac patients admitted to the Intensive Care Unit, and the prognosis of the myocardial dysfunction needs to be determined. This study evaluated the predictability of BNP on the prognosis of critically ill noncardiac patients. Methods : 32 ICU patients, who were hospitalized from June to October 2002 and in whom the BNP test was evaluated, were enrolled in this study. The exclusion criteria included the conditions that could increase the BNP levels irrespective of the severity, such as congestive heart failure, atrial fibrillation, ischemic heart disease, and renal insufficiencies. A triage B-Type Natriuretic Peptide test with a RIA-kit was used for the fluorescence immunoassay of BNP test. In addition, the acute physiology and the chronic health evaluation (APACHE) II score and mortality were recorded. Results : There were 16 males and 16 females enrolled in this study. The mean age was 59 years old. The mean BNP levels between the ICU patients and control were significantly different ($186.7{\pm}274.1$ pg/mL vs. $19.9{\pm}21.3$ pg/mL, p=0.033). Among the ICU patients, there were 14(44----) patients with BNP levels above 100 pg/mL. The APACHE II score was $16.5{\pm}7.6$. In addition, there were 11 mortalities reported. The correlation between the BNP and APACHE II score, between the BNP and mortality were significant (r=0.443, p=0.011 & r=0.530, p=0.002). The mean BNP levels between the dead and alive groups were significantly different ($384.1{\pm}401.7$ pg/mL vs. $83.2{\pm}55.8$ pg/mL p=0.033). However, the $PaO_2/FiO_2$ did not significantly correlate with the BNP level. Conclusion : This study evaluated the BNP level was elevated in critically ill, noncardiac patients. The BNP level could be a useful, noninvasive tool for predicting the prognosis of the critically ill, noncardiac patients.

• Journal of Chest Surgery
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• v.37 no.10
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• pp.845-855
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• 2004

Background: No general consensus has been available regarding the necessity of postoperative radiation therapy (PORT) and its optimal techniques in the patients with chest wall invasion (pT3cw) and node negative (N0) non-small cell lung cancer (NSCLC). We did retrospective analyses on the pT3cwN0 NSCLC patients who received PORT because of presumed inadequate resection margin on surgical findings. And we compared them with the pT3cwN0 NSCLC patients who did not received PORT during the same period. Material and Method: From Aug. of 1994 till June of 2002, 22 pT3cwN0 NSCLC patients received PORT-PORT (＋) group- and 16 pT3cwN0 NSCLC patients had no PORT-PORT (-) group. The radiation target volume for PORT (＋) group was confined to the tumor bed plus the immediate adjacent tissue only, and no regional lymphatics were included. The prognostic factors for all patients were analyzed and survival rates, failure patterns were compared with two groups. Result: Age, tumor size, depth of chest wall invasion, postoperative mobidities were greater in PORT (-) group than PORT (＋) group. In PORT (-) group, four patients who were consulted for PORT did not receive the PORT because of self refusal (3 patients) and delay in the wound repair (1 patient). For all patients, overall survival (OS), disease-free survival (DFS), loco-regional recurrence-free survival (LRFS), and distant metastases-free survival (DMFS) rates at 5 years were 35.3%, 30.3%, 80.9%, 36.3%. In univariate and multivariate analysis, only PORT significantly affect the survival. The 5 year as rates were 43.3% in the PORT (＋) group and 25.0% in PORT (-) group (p=0.03). DFS, LRFS, DMFS rates were 36.9%, 84.9%, 43.1 % in PORT (＋) group and 18.8%, 79.4%, 21.9% in PORT(-) group respectively. Three patients in PORT (-) group died of intercurrent disease without the evidence of recurrence. Few suffered from acute and late radiation side effects, all of which were RTOG grade 2 or lower. Conclusion: The strategy of adding PORT to surgery to improve the probability not only of local control but also of survival could be justified, considering that local control was the most important component in the successful treatment of pT3cw NSCLC patients, especially when the resection margin was not adequate. Authors were successful in the marked reduction of the incidence as well as the severity of the acute and late side effects of PORT, without taking too high risk of the regional failures by eliminating the regional lymphatics from the radiation target volume.

• Tuberculosis and Respiratory Diseases
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• v.49 no.6
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• pp.724-732
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• 2000

Background : In patients with severe chronic lung diseases even a small pneumothorax can result in life-threatening respiratory distress. It is important to treat the attack by chest tube drainage until the lung expands. Pneumothorax with a persistent air leak that does not resolve under prolonged tube thoracostomy suction is usually treated by open operation to excise or oversew a bulla or cluster of blebs to stop the air leak. Pleurodesis by the instillation of chemical agents is used for the patient who has persistent air leak and is not good candidate for surgical treatment. When the primary trial of pleurodesis with common agent fails, it is uncertain which agent should be used f or stopping the air leak by pleurodesis. It is well known that inappropriate drainage of hemothorax results in severe pleural adhesion and thickening. Based on this idea, some reports described a successful treatment with autologous blood instillation for pneumothorax patients with or without residual pleural space. We tried pleurodesis with autologous bood for pneumothorax with persistent air leak and then we evaluated the efficacy and safety. Methods : Fifteen patients who had persistent air leak in the pneumothorax complicated from the severe chronic lung disease were enrolled. They were not good candidates for surgical treatment and doxycycline pleurodesis failed to stop up their air leaks. We used a mixture of autologous blood and 50% dextrose for pleurodesis. Effect and complications were assessed by clinical out∞me, chest radiography and pulmonary function tests. Results : The mean duration of air leak was 18.4${\pm}$6.16 days before ABP (autologous blood and dextrose pleurodesis) and $5.2{\pm}1.68$ days after ABP. The mean severity of pain was $2.3{\pm}0.70$ for DP(doxycycline pleurodesis) and $1.7{\pm}0.59$ for ABDP (p<0.05). There was no other complication except mild fever. Pleural adhesion grade was a mean of $0.6{\pm}0.63$. The mean dyspnea scale was $1.7{\pm}0.46$ before pneumothrax and $2.0{\pm}0.59$ after ABDP (p>0.05). The mean $FEV_1$ was $1.47{\pm}1.01$ before pneumothorax and $1.44{\pm}1.00$ after ABDP (p>0.05). Except in 1 patient, 14 patients had no recurrent pneumothorax. Conclusion : Autologous blood pleurodesis (ABP) was successful for treatment of persistent air leak in the pneumothorax. It was easy and inexpensive and involved less pain than doxycycline pleurodesis. It did not cause complications and severe pleural adhesion. We report that ABP can be considered as a useful treatment for persistent air leak in the pneumothorax complicated from the severe chronic lung disease.

• Journal of Chest Surgery
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• v.41 no.3
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• pp.335-342
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• 2008

Background: Congenital cystic diseases of the lung are uncommon, and they share similar embryogenic and clinical characteristics. But they are sometimes vary widely in their presentation and severity. Therefore they are often difficult to make different diagnosis each other, and all require surgical treatment. Material and Method: From 1993 to 2006, 38 patients underwent surgical procedures under these diagnostic categories in the Depart. of Thoracic and. Cardiovascular Surgery, Busan-Paik Hospital, College of Medicine, Inje University. And we retrospectively reviewed these patients' charts for clinical presentations, surgical procedures, pathologic findings and postoperative morbidity and mortality. Result: There were 22 males and 16 females, ages ranged from 1 month after birth to 51 years and mean age was 20.8 years. The main symptoms were 19 fever, cough, sputum production due to recurrent infection, 7 dyspnea, 8 chest discomfort, 4 hemoptysis, but eight patients were asymptomatic. Computed tomography was chosen as diagnostic modalities and available for operation plan for all of patients. For all the cases, surgical resection were performed. Lobectomy was performed in 28 patients, simple excision (resection) in 8 patients, segmentectomy or wedge resection in 2 patients. There were 10 pulmonary sequestrations, 15 congenital cystic adenomatoid malformations (CCAM), 11 bronchogenic cysts, and 2 congenital lobar emphysemas. They all were confirmed by pathologic exams. The complications were 6 wound disruption or infection, 2 chylothorax, 1 ulnar neuropathy, but all of them were resolved uneventful. There was no persistent air leakage, respiratory failure, operative mortality and recurrence. Conclusion: We performed immediate surgical removal of congenital cystic lung lesions after diagnosis and obtained good results, so reported them with literature review.

• Journal of Korean Medicine Rehabilitation
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• v.19 no.1
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• pp.135-143
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• 2009

Objectives : Low back pain(LBP) is a common disabling disease in clinical practice and loss of working hours due to this condition is huge. The aim of this study was to determine if there was an association between fat deposit of paraspinal muscles as observed on MRI scans in patients presenting with unilateral LBP. Methods : 24 patients who visiting our hospital with a clinical presentation of unilateral LBP were recruited to the study. Patients were between 20 and 30 years and had a history of unilateral LBP within 12 months. After MRI scaning, the images were saved in DICOM file format for Picture Archiving and Communication System(PACS). The percentage of fat infiltrated area was measured using a pseudocoloring technique. Data were analyzed comparing the fat deposits of the muscles on the symptomatic and asymptomatic sides. Paired t-test was used to find the difference between the measurements of fat tissue in individual patients. Results : The amount of fat in the symptomatic side was $7.6{\pm}4.51%$, asymptomatic side was $6.7{\pm}4.29%$. There were increases, statistically significant, in the fat changes of the paraspinal muscles at the L4-5 disc level(P <0.05). Also, men were likely than women to have more fat deposit in symptomatic side(men $8.5{\pm}5.1%$, women $6.5{\pm}3.6%$). Conclusions : The amount of fat in the symptomatic side shows significantly increased than asymptomatic side in the paraspinal muscles at the L4-5 disc level. It suggested that fat infiltration in the muscles associated with LBP. Further studies will be needed to confirm the relationship between the muscle fatty changes and LBP in the large sample size. In addition, the correlation of pain severity with fat infiltration needs to be addressed.

• Journal of Physiology & Pathology in Korean Medicine
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• v.22 no.6
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• pp.1359-1367
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• 2008

DSOM(Diagnosis System of Oriental Medicine) was made as a computerized assistant program for oriental medicine doctors to be able to diagnose with statistical basis. Then DSOM uses questionnaires filled out by subjects without enough explanatory guide. If the subject misunderstand the meaning of the passages, we might not rely on that result. So I designed this study to investigate the diagnostic correspondent rates between DSOM and practitioners. First, let the respondents answer to DSOM(DSOM-Ⅰ for the rest). After that, three doctors diagnosed the respondents and marked how much they had symptoms about 16 pathogenic factors in the score range 0${\sim}$5('0' means they didn't have that symptom, '1' means they had that symptom but mild, '3' means they had that symptom moderately, '5' means they had that symptom severely. And let the respondents answer to DSOM(DSOM-Ⅱ for the rest) again. Finally, we investigated the correspondent rates of diagnosis between DSOM-Ⅰ,Ⅱ and doctors'. We obtained conclusions as following. In the comparison of output frequency rate of the pathogenic factors, the difference between DSOM-Ⅰ and Ⅱ was 1%. In the correspondent rates of diagnosis between DSOM-Ⅰ,Ⅱ and doctors', In DSOM-Ⅰ and Ⅱ answered by subjects two times respectively, the correspondent rate was highest in insufficiency of Yang(陽虛) and liver(肝) as 93.2%, lowest in damp(濕) as 69.5% and showed 81.9% in all 16 pathogenic factors mean. In DSOM-Ⅰ and Ⅱ, and Doctors' diagnose, they showed the complete correspondent rates of 15.3${\sim}$61.0%, 15.3${\sim}$59.3% in individual pathogenic factor, 36.5%, 37.3% in all 16 pathogenic factors mean each, and within ${\pm}$1 errorrange, they showed the correspondent rates of 32.2${\sim}$93.2%, 35.6${\sim}$89.8% in individual pathogenic factor, 67.6%, 67.3% in all 16 pathogenic factors mean each, and within ${\pm}$2 error range, they showed the correspondent rates of 62.7${\sim}$98.3%, 71.2${\sim}$100% in individual pathogenic factor, 85.1 87.6%% in all 16 pathogenic factors mean each. In the correspondent rates of the severe case, In the cases that the Doctors' diagnostic score mean was over 3(the severity of disease is middle), there were deficiency of qi(氣虛), stagnation of qi(氣滯), blood stasis(血瘀), damp(濕), liver(肝), heart(心), spleen(脾) and they all showed the correspondent rates of over 60 except blood stasis(血瘀). In the cases that the weighed pathogenic factor was above 9, the correspondent rates were 50${\sim}$100%. deficiency of qi(氣虛), blood-deficiency(血虛), stagnation of qi(氣滯), blood stasis(血瘀), insufficiency of Yin(陽虛), insufficiency of Yang(陽虛), coldness(寒), heat (熱), damp(濕), dryness(燥), liver(肝), heart(心), spleen(脾), kidney(腎), phlegm(痰).

• Journal of Chest Surgery
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• v.35 no.4
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• pp.296-302
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• 2002

The classic approach for esophagectomy is via the combined thoracic and abdominal approach. Controversy exists whether patients with esophageal carcinoma are best managed with Ivor-Lewis esophagectomy(ILO) as combined thoracic and abdominal approach or transhiatal esophagectomy(THO). The THO approach is known to be superior with respect to operative time, severity of leak, morbidity/mortality, and length of stay, but may represent an inferior cancer operation as a result of survival disadvantage due to inadequate mediastinal clearance compared with ILO. Accordingly, we reviewed the results of our esophageal resections to compare these outcome parameters for each operative approach. Material and Method: From January 1993 to July 2001, We performed a retrospective review of all esophagectomies performed at Keimyung University Dongsan ·Medical Center; 27 underwent THO, and 45 underwent ILO Result: The two groups were comparable in terms of age, sex, and stage of the disease. Mean tumor length and mean operative time were 3.81cm and 354 minutes for THO versus 5.31cm and 453 minutes for ILO, respectively (p<0.01 and p<0.001). Respiratory complications were 11.1% for THO versus 35.6% for ILO(p<0.05). Hospital mortality was 11.1% for THO versus 22.2% for ILO. There were no significant differences between THO and ILO with respect to other types of complications, amount of blood transfusion, leak and stricture rates, and hospital stay. Overall long-term survival at 5 years was 37%, respectively. Conclustion: There was no significant difference in long-term survival of patients of both operative approach. ILO had significant difference in respiratory complications associated with hospital mortality. Hence, THO is a valid alternative to ILO for well selected patients. And either approach appears to be acceptable depending on the surgeons, preferences and experiences.