• Journal of Chest Surgery
• /
• v.41 no.2
• /
• pp.239-246
• /
• 2008

Background: Aortic surgery for high risk patients has high mortality and morbidity rates, and the necessity of performing aortic surgery in cancer patients is questionable because of their short life expectancy. Endovascular repair of aneurysm repair can be considered for high risk patients and cancer patients because it has relatively lower invasiveness and shorter recovery times than aortic surgery does. Especially, percutaneous endovascular stent graft treatment is more useful for high risk patients because it does not require general anesthesia. Material and Method: From July 2003 to September 2007, twelve patients who had inoperable malignancy or who had a high risk of complication because of their combined diseases during aortic surgery underwent endovascular aortic aneurysm repair. he indications for endovascular repair were abdominal aortic aneurysm in 5 patients, descending thoracic aortic aneurysm in 6 patients and acute type B aortic dissection in one patient. The underlying combined disease of these patients were malignancy in 3 patients, respiratory disease in 6 patients, old age with neurologic disease in 6 patients, Behcet's iseae in one patient and chronic renal failure in one patient. Result: Stent grafts were inserted percutaneously in all cases. There were 4 hospital deaths and there were 3 delayed deaths during the follow-up periods. There were no deaths from aortic disease, except one hospital death. There were several complications: a mild cerebrovascular accident occurred in one patient, acute renal failure occurred in 2 patients and ischemic bowel necrosis occurred in one patient. Mild type I endoleak was observed in 2 patients and type II endoleak was observed in a patient after stent graft implantation. Newly developed type I endoleak was observed in a patient during the follow-up period. Conclusion: Percutaneous endovascular stent graft insertion is relatively safe procedure for high risk patients and cancer patients. Yet it seems that its indications and its long term results need to be further researched.

• Childhood Kidney Diseases
• /
• v.9 no.1
• /
• pp.8-14
• /
• 2005

Purpose : This study was peformed to study normative blood pressure data in full-term neonates that may be used to facilitate Identification of neonatal hypertension.Methods : 383 newborns born in our hospital from May 2003 to January 2004 were enrolled in this study Using an oscillometric device(BP-88 NEXT, COLIN Corp.), their blood pressures were measured more than one time within a week after birth. According to each clinical variable such as sex, delivery mode, birth weight, gestational age and presence of maternal disease or perinatal problems, we divided the population into groups and calculated the mean blood pressures of each group. We compared mean blood pressures between the divided groups according to each clinical variable statistically.Results : Mean systolic and diastolic blood pressure of the Population was 70.8$\pm$ 10.9 mmHg and 43.4 $\pm$ 8.0 mmHg, respectively. There was no satistically significant difference in blood pressure according to clinical variables. Mean systolic pressure showed positive correlation with birth weight and gestational age(r=0.1420, 0.03130).Conclusion : Our results are almost in agreement with Zubrow's data from 695 newborns in U.S.A, 1995. Our data may be helpful for early detection and management of neonatal hypertension, thereby maintaining renal function ,and preventing possible complications of renal disease.

• Childhood Kidney Diseases
• /
• v.10 no.1
• /
• pp.27-32
• /
• 2006

Purpose : Conservative management of multicystic dysplastic kidney(MCDK) without nephrectomy has recently been advocated. The purpose of this study was to determine the clinical course of conservatively managed MCDK and to find out possible predictive factors for involution of MCDK by ultrasonography(US). Methods : A retrospective analysis was made on 45 patients(26 boys and 20 girls) in whom MCDK was detected and had been traced by US between Dec. 1993 and Aug. 2005 at Severance Hospital. Results : Median follow-up time was 30 months(range 2-102 months). All patients under-went radionuclide scans and voiding eystourethrograms. The serial follow-up US showed complete involution in 11(24%), partial involution in 19(41%), and no interval change or increased in cyst size in 13(28%) patients. Nephrectomy was done in 3 patients(7%) due to relapsing urinary tract infection(UTI) and severe abdominal distension. The mean age of complete involution of MCDK was 37 months(range 12-84 months). Episodes of UTI were present in 17 patients(37%) and additional genitourinary(GU) abnormalities were found in 22 patients(44%). Hypertension and renal insufficiency was complicated in one patient. No child developed malignant tumor. Univariate analysis showed that five variables were associated with complete involution of the MCDK; gender, site, UTI episode, additional GU abnormalities, and renal length on initial US. After adjusting using the Pearson model, the presence of additional GU abnormalities was exclusively associated with complete involution among the 5 variables(P=0.034). Conclusion : In our review of 46 cases of MCDK, non-surgical approach for patients with MCDK was advisable and we could predict poor prognosis when MCDK is associated with other GU anomalies.

• Childhood Kidney Diseases
• /
• v.7 no.2
• /
• pp.157-165
• /
• 2003

Purpose : $Henoch-Sch\"{o}nlein$ purpura(HSP) is a systemic vasculitis that involves multiple organs, especially the kidney, which is the most important organ in determining the prognosis of the disease. The morbidity of HSP nephritis in adults is low and there have been little research done on its clinical course so far. Therefore, we have compared the clinical course of HSP nephritis in children and adults in Korea. Methods : We retrospectively analyzed 81 cases of HSP nephritis in children younger than 15 years of age, and 25 cases of adults older than 15 years of age who were admitted to Yonsei University Medical College Severance Hospital from Jan. 1986 to May 2003. Results : The male to female ratio was 1.5 : 1 in children and 1.3 : 1 in adults. The incidence of HSP nephritis for both age groups was found to be increased during the autumn and winter. Infection was the predisposing factor in 39 cases(48.1%) of children, 16 cases(64.0%) of adults, and drugs were the predisposing factor in 8 cases(9.9%) of children and 4 cases (16.0%) of adults. All patients initially presented with microscopic hematuria. Thirteen cases (16.0%) of children and 7 cases(28.0%) of adults initially showed proteinuria of nephrotic range. Thirty four cases(42.0%) of children and 4 cases(16.0%) of adults showed normal urinalysis after treatment. Asymptomatic urinary abnormalities were found in 41 cases(50.6%) of children and 18 cases(72.0%) of adults. Complications such as nephrotic syndrome and hypertension were found in 3 cases(3.7%) of children and 2 cases(8.0%) of adults. Three children(3.7%) and 1(4.0%) adult required dialysis or renal transplantation. Follow-up renal biopsies were performed on 21 children, of whom 10 cases(47.6%) did not show any histologic change, 9 cases(42.9%) showed low grade changes, and 2 cases(9.5%) showed high grade changes. Prognosis was gloomy when proteinuria of nephrotic range and high grade of abnormal histology were present at diagnosis, and there was no significant difference between the two groups(P<0.05) Conclusion : This study showed that there was no difference in terms of the clinical features and courses between the children and adults with HSP nephritis. Proteinuria of nephrotic range and the severity of abnormal histologic changes at diagnosis were found to be associated with a bad prognosis, therefore we recommend that patients with these features require long term follow-up and management.

• Childhood Kidney Diseases
• /
• v.14 no.1
• /
• pp.22-31
• /
• 2010

Purpose : This study was performed to evaluate the relationship between glomerular basement membrane (GBM) alterations to epithelial cell (EpC) structure and renal function in Alport Syndrome (AS) patients. Methods : Fifteen patients diagnosed with AS (4-26yrs) were examined. The GBM in AS was categorized as : C1) normal, C2) minor alterations (widening of lamina rara interna or externa without lamina densa change), C3) nonspecific splitting of lamina densa, C4) basket-weaving pattern of lamina densa splitting. The length of each GBM portion along the epithelial side was measured on the systematically obtained electron microscopic photographs. Furthermore to obtain an objective assessment of the degree of glomerular EpC foot process change, the number of slit pores along $10\;{\mu}m$ of peripheral GBM in each category was obtained. Results : The percentage of normal GBM portion (C1) correlated inversely with daily protein excretion (g/day/$m^2$, P<0.05) and sum of the percentage of abnormal GBM portion (C2+C3+C4) had direct correlation with daily protein excretion (g/day/$m^2$, P<0.05). There were no significant relationships between the percentages of other categories of GBM alterations and creatinine clearance or protein excretion. There were no significant relationships between of creatinine clearance in relation to normal GBM(C1) portion as well as that in relation to sum of the percentage of abnormal GBM portion (C2+C3+C4). GBM abnormality did not correlate with age at biopsy. Conclusion : The extent of GBM structural abnormality is related to proteinuria in AS but the epithelial response is uniform even though the GBM ultrastructural lesions are not.

• Archives of Plastic Surgery
• /
• v.34 no.5
• /
• pp.659-662
• /
• 2007

Purpose: Multiple skin leiomyoma and uterine myoma bearing autosomal dominant traits are benign smooth muscle tumors which originate in skin or female uterus. Skin leiomyoma occurs after gene mutation originating from arrector pili muscle of hair follicle where its clinical manifestations vary significantly from person to person. Our department hereby reports the histological findings and genetic evaluations of this very rare disease. Methods: A 57-year-old woman presented in our institute with multiple tumors in the left and central parts of her back that started to appear since 19 years ago. The patient was diagnosed as having uterine myoma 15 years ago and underwent hysterectomy. Biopsy has been done on the specimen, and genomic DNA was separated from Fumarate hydratase gene for it to go through PCR amplification. The results of PCR amplification were aligned by sequencer. Results: According to the results of biopsy, tumor cells were spindle-shaped and were aligned in a bundle where there was no dysplasia or mitosis. Moreover, these cells had abundant eosinophilic cytoplasm with elongated nucleus, and benign leiomyoma that showed positive reactions to SMA stain were found. In genetic examination, mutations such as heterozygous single nucleotide substitutions were found in alignments of amplified DNA. Conclusion: Multiple skin leiomyoma and uterine myoma are relatively uncommon diseases that are transmitted through autosomally dominant traits from genetic mutations. When a patient's chief complaint lies upon skin-colored or brown masses that occur in multiples appearing in the trunk or extremities with characteristic clinical symptoms and histological findings, and when the patient's family history is acknowledged such as skin or uterine leiomyoma or renal tumor, necessary genetic examination on multiple skin leiomyoma and uterine myoma could be done, and thereby precise diagnosis could also be made.

• Journal of Genetic Medicine
• /
• v.16 no.2
• /
• pp.55-61
• /
• 2019

Purpose: Genetic defects in the nuclear-encoded mitochondrial aminoacyl-tRNA synthetases were first identified as causes of various disorders in 2007. Variants in IARS2, which encodes a mitochondrial isoleucyl-tRNA synthetase, were first reported in 2014. These variants are associated with diverse phenotypes ranging from CAGSSS (CAtaracts, Growth hormone deficiency, Sensory neuropathy, Sensorineural hearing loss, and Skeletal dysplasia) and Leigh syndrome to isolated nonsyndromic cataracts. Here, we describe the phenotypic and genetic spectrum of Korean patients with IARS2-related disorders. Materials and Methods: Using whole-exome sequencing followed by Sanger sequencing, we identified five patients with IARS2 mutations. Their medical records and brain magnetic resonance images were reviewed retrospectively. Results: All five patients presented with developmental delay or regression before 18 months of age. Three patients had bilateral cataracts, but none had hearing loss or sensory neuropathy. No evidence of skeletal dysplasia was noted, but two had short stature. One patient had cardiomyopathy and another exhibited renal tubulopathy and hypoparathyroidism. Their brain imaging findings were consistent with Leigh syndrome. Interestingly, we found the recurrent mutations p.R817H and p.V105Dfs*7 in IARS2. Conclusion: To our knowledge, this is the first report of Korean patients with IARS2-related disorders. Our findings broaden the phenotypic and genotypic spectrum of IARS2-related disorders in Korea and will help to increase clinical awareness of IARS2-related neurodegenerative diseases.

• Childhood Kidney Diseases
• /
• v.5 no.1
• /
• pp.15-21
• /
• 2001

Purpose : Urinary tract infections (UTIs) of children require prompt and correct diagnosis and treatment to reduce the risk of renal damage. As a first step to improve the outcome of UTI in Korea, we investigated the practical variations in the methods of diagnosis, treatment, and evaluation of children with UTI and UTI prevention. Method :A questionnaire related to the individual policy on UTI diagnosis. treatment, imaging test, and prevention was submitted to 26 experts. Result Majority of the experts used bag-collected urine specimen for infants and mid-stream urine specimen for children for urinary culture. With a negative result of culture study, they diagnosed UTI when there was pyuria, positive results of the nitrite test, or bacteriuria. 80 $\%$ of experts prescribed prophylactic antibiotics after upper tract UTI. Operative treatment of vesicoureteral reflux (VUR) was indicated for children older than one or two years old with high-grade VUR, refractory breakthrough infections, or recurrent UTIs. Most of them performed kidney ultrasonography on the diagnosis of UTI and more than half of them evaluated children treated of UTI with vesicocystourethrogram and/or DMSA scintigraphy. Majority did not recommend circumcision. Half of the experts were screening siblings of VUR patients. Conclusion : Considering the variations exposed through this study systematic guidelines for management of children with UTI in Korean would be necessary. (J. Korean Soc Pediatr Nephrol 5 : 15-21, 2001)

• Journal of Chest Surgery
• /
• v.35 no.4
• /
• pp.255-260
• /
• 2002

Paraplegia remains unresolved as the most dreaded operative complication with surgical treatment of descending thoracic and thoracoabdominal aortic diseases. In this study, the neuroprotective effect of trimetazidine that has been used clinically for ischemic heart disease was investigated in a rabbit spinal cord ischemia model. Material and Method: Thirty-three New Zealand white rabbits were randomized as follows: control group undergoing abdominal aortic occlusion but receiving no pharmacologic intervention(Group 1, n= 17); TMZ group(Group 2, n= 16) receiving 3 mg/kg trimetazidine intravenously before the occlusion of the aorta. Ischemia was induced by clamping the abdominal aorta just distal to the left renal artery for 30 minutes. Neurologic status was assessed at 2, 24, and 48 hours after the operation according to the modified Tarlov scale, then the lumbosacral spinal cord was processed for histopathologic examinations 48 hours after the final assessment. Result: The average motor function score was significantly higher in the TMZ group(3.20 $\pm$ 0.77 vs 1.13 $\pm$ 1.25 at 2 hours, 3.50 $\pm$ 0.76 vs 1.45 $\pm$ 1.57 at 24 hours, and 3.91 $\pm$ 0.30 vs 1.86 $\pm$ 1.86 at 48 hours after operation; p value$\leq$0.05). Histologic observations were correlated with the motor scores. Conclusion: The results suggested that trimetazidine reduced spinal cord injury during aortic clamping and that it may have clinical utility for the thoracoabdominal aortic surgery:

• Childhood Kidney Diseases
• /
• v.13 no.1
• /
• pp.75-83
• /
• 2009

Purpose : Chronic kidney disease (CKD) and obesity are the worldwide public health problem. Obesity is an already well-established risk factor for CKD. The objective of this study is to evaluate the relationship between high BMI and increased risk for nephropathy by clinical data. Methods : Study group were 26 patients who had $BMI{\geq}25\;kg/m^2$ and control group were 49 patients with BMI<$25\;kg/m^2$. Both groups received renal biopsy in Kyung Hee Medical Center between 2003. Jan.-2007. Dec. BMI was calculated from measured weight and height when they were admitted to the hospital. We collected laboratory data such as CBC and blood chemistry. Results : Our hypothesis was that overweight and obesity are associated with incidence and progression of CKD. From kidney biopsy, we found IgAN 17, MesPGN 5, HSPN 2, Intestitial nephritis 1, IgMN 1 (total 26) in the study group whereas IgAN 22, MesPGN 17, HSPN 3, MGN 3, benign hematuria 2, MPGN 1, Intestitial nephritis 1, (total 49) were found in the control group. There was no significant difference between the two groups. Overweight patients demonstrated significantly higher platelet, TG, ALT, and uric acid level compared to control group. Conclusion : We identified a significant relationship between overweight and development of CKD. These results suggest that overweight children have an increased risk for CKD than those who are not obese. So, we should pay attention to children with overweight who have CKD and earlier weight management is crucial to prevent aggravation of CKD.