The Cornelia de Lange syndrome is characterized by severe growth and mental retardation; typical facies; low-pitched, weak, growling cry, and various bone abnormalities, as was first described by Cornelia de Lange in 1933. On the other hand, Legg-Perthes disease is the condition, in which avascular necrosis of the femoral head develops, as was first described by Legg, Calve and Perthes in 1910. Review of the worlds literature disclosed only one case of Legg-Perthes disease associated with Cornelia de Lange syndrome. We experienced a case of Legg-Perthes disease associated with Cornelia de Lange syndrome in a 8 years old boy, which was treated surgically for Legg-Perthes disease. A brief review of literature was made.
De Lange Syndrome ; Facies ; Hand ; Head ; Humans ; Intellectual Disability ; Legg-Calve-Perthes Disease ; Male ; Necrosis

OBJECTIVES: Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder showing many neuropsychological deficits. Many environmental risk factors have been thought to increase the risk for the disorder. We examined blood iron levels in children with ADHD and a control group to find an association between iron deficit and diagnosis, neuropsychological characteristics and clinical features. METHODS: An ADHD group (n=50) and control group (n=45) of children 6-12 years of age were recruited. Both groups were diagnosed by semi-structured interview, and they were evaluated using the Korean version of the ADHD Rating Scale (K-ARS), Korean version of IOWA Conner's Rating Scale (K-IOWA), intelligence quotient (IQ), and neurocognitive function tests (continuous performance test, children's color trails test, Stroop color-word test). Iron levels in blood were determined using the inductively coupled plasma mass spectrometry instrument. Independent t-test and correlation were used to determine the relation of blood iron levels with symptom ratings and neurocognitive function. Logistic regression was performed to determine the diagnostic value of blood iron levels. RESULTS: Blood iron levels were significantly lower in ADHD than in control and showed negative correlation with K-ARS and K-IOWA scores. Blood iron levels showed positive association with IQ and Stroop color-word test results and negative association with results of continuous performance testing. Low blood iron levels predicted the diagnosis of ADHD. CONCLUSION: Lower levels of blood iron were associated with ADHD symptom severity, IQ, and frontal lobe-mediated neurocognitive function. As blood iron levels may influence ADHD, measurement of iron levels in blood may be useful for evaluation of symptoms and neurocognitive function in ADHD.
Child* ; Diagnosis ; Humans ; Intelligence ; Iowa ; Iron* ; Logistic Models ; Mass Spectrometry ; Plasma ; Risk Factors

OBJECTIVE: This study is undertaken to review clinical characteristics of spontaneous intracranial aneurysms in young adult patients. METHODS: The authors reviewed medical records and radiological findings in patients, aged 16 to 35 with spontaneous intracranial aneurysm(s) who underwent transcranial or endovascular treatment in our hospital from 1989 to 2002. RESULTS: The number of cases was 157 and the ratio of male to female was 95:62. The majority(88.5%) of patients presented with subarachnoid hemorrhage and underlying medical diseases were found only in 12.1%. Acccording to Hunt-Hess grade, 145 patients(92.4%) showed good clinical grade on admission. Aneurysms were located most commomly at the anterior communicating artery(35.7%). Patients with multiple aneurysms were 11.5% and giant aneurysms were found in 4.5%. We performed transcranial surgery in 95.5% and endovascular treatment in 4.5%. 144 patients(91.7%) showed good outcome at discharge and 8 patients died of rebleeding in two cases, brain swelling in two cases, postoperative infarction after parent artery occlusion in two cases, vasospasm in one case, and acute myocardial infarction in one case. CONCLUSION: Because of good neurological status on admission, low incidence of intraventricular hemorrhage and hydrocephaus, low incidence of underlying medical disease, and low incidence of symptomatic vasospasm, the overall outcomes of the young adult patients are better than those of the old patients.
Aneurysm ; Arteries ; Brain Edema ; Female ; Hemorrhage ; Humans ; Incidence ; Infarction ; Intracranial Aneurysm* ; Male ; Medical Records ; Myocardial Infarction ; Parents ; Retrospective Studies* ; Subarachnoid Hemorrhage ; Young Adult*

PURPOSE: To investigate the effects of phacoemulsification in glaucomatous eyes with a functioning Ahmed glaucoma valve insertion. METHODS: This retrospective analysis followed 28 eyes from 26 patients with a functioning Ahmed glaucoma valve who had clear corneal phacoemulsification from December 1999 to February 2006. Intraocular pressure (IOP), best corrected visual acuity (BCVA), number of glaucoma medications and additional glaucoma surgeries were measured. RESULTS: The mean IOP before phacoemulsification was 17.4 mmHg +/- 5.8 (SD). Postoperative IOP was 13.6 +/- 4.4 mmHg, 13.7 +/- 4.0 mmHg, 14.1 +/- 4.0 mmHg and 15.4 +/- 3.8 mmHg at 1, 2, 6, and 12 months, respectively. The change in the number of glaucoma medications significantly changed at 1 month (p<0.05), but did not change at 2, 6 and 12 months (p>0.05) postoperatively. The IOP significantly changed at 1 week, 1 month, 2 months, and 6 months (p<0.05), but did not significantly change at 12 months (p>0.05) postoperatively. No eyes required additional surgery. BCVA improved in 23 eyes; the mean improvement was 3.7 +/- 2.9 Snellen lines at 2 months postoperatively. CONCLUSIONS: Phacoemulsification in glaucomatous eyes with a functioning Ahmed glaucoma valve improved BCVA and maintained control of IOP.
Glaucoma* ; Humans ; Intraocular Pressure ; Phacoemulsification* ; Retrospective Studies ; Visual Acuity

PURPOSE: The purpose of the study was to assess the efficacy and safety of biweekly oxaliplatin in combination with leucovorin (LV)-modulated bolus plus infusion of 5-fluorouracil (5-FU) in patients with relapsed or metastatic colorectal cancer (CRC) as a second line therapy. MATERIALS AND METHODS: Between November 2002 and October 2005, 26 patients with histologically confirmed relapsed or metastatic CRC were enrolled. All patients were previously treated with irinotecan-based combination chemotherapy. The chemotherapy regimen consisted of oxaliplatin 85 mg/m2 on day 1; LV 200 mg/m2 on days 1 and 2; and 5-FU 400 mg/m2 bolus IV with 600 mg/m2 with a 22-hour infusion on days 1 and 2 every 2 weeks. RESULTS: The median age of the 26 patients was 50.5 years (range, 31~72). Their metastatic sites included: the liver (42.3%), peritoneum (26.9%), lung (23.1%) and ovary (7.7%). Twenty five patients were evaluated for their response. Four patients achieved partial responses and 15 patients had stable disease. The overall response rate was 16% (95% confidence interval; 1.7~30.3%). The median follow-up duration for the surviving patients was 7.4 months (range, 2.08~21.2). Median overall survival (OS) and 1-year OS rates were 16.7 months and 63.9%, respectively. The most common hematological toxicities were: NCI grade I/II leucopenia (49.3%), grade I/II neutropenia (41%) and grade I/II anemia (65.2%). The main non-hematological toxicities were: grade I/II peripheral neuropathy (16.1% and 21.5%, respectively) and nausea/ vomiting (23.6%/18.5%). There was no life-threatening toxicity. CONCLUSION: The oxaliplatin, 5-FU and LV combination chemotherapy, scheduled as a biweekly protocol, was effective and well tolerated in the treatment of relapsed or metastatic colorectal cancer patients as second line chemotherapy.
Anemia ; Colorectal Neoplasms* ; Drug Therapy ; Drug Therapy, Combination ; Female ; Fluorouracil* ; Follow-Up Studies ; Humans ; Leucovorin* ; Liver ; Lung ; Neutropenia ; Ovary ; Peripheral Nervous System Diseases ; Peritoneum ; Vomiting

OBJECTIVE: Gene expression of nm23 has been investigated in a number of tumors, including breast cancer, colon cancer, malignant melanoma, and hepatocellular carcinoma. Its down-regulation has been shown to be associated with metastasis or disease progression in some of the tumors. This study was carried out to define the relationship between nm23 protein expression and clinicopathological variables. METHODS: nm23 protein levels were investigated in 64 surgically resected specimens of stage III gastric cancer by immunohistochemical method, and association with clinicopathological parameters and survival rates were determined. RESULTS: The overall expression rates of nm23 was 68.7 %. There was no significant difference between nm23 protein expression and clinicopathological variables such as age, sex, stage, histology, tumor depth, number of metastatic nodes, tumor size, site and method of operation. Statistically, no significant differences between nm23 protein expression and overall survival rates were found. CONCLUSIONS: These results suggest that nm23 protein expression is an unsatisfactory prognostic indicator in stage III gastric adenocarcinoma.
Adenocarcinoma* ; Breast Neoplasms ; Carcinoma, Hepatocellular ; Colonic Neoplasms ; Disease Progression ; Down-Regulation ; Gene Expression ; Melanoma ; Neoplasm Metastasis ; Stomach Neoplasms ; Survival Rate

Beyond statin therapy for reducing low density lipoprotein cholesterol (LDL-C), additional therapeutic strategies are required to achieve more optimal reduction in cardiovascular risk among diabetic patients with dyslipidemia. To evaluate the effects and the safety of combined treatment with omega-3 fatty acids and statin in dyslipidemic patients with type 2 diabetes, we conducted a randomized, open-label study in Korea. Patients with persistent hypertriglyceridemia (> or =200 mg/dL) while taking statin for at least 6 weeks were eligible. Fifty-one patients were randomized to receive either omega-3 fatty acid 4, 2 g, or no drug for 8 weeks while continuing statin therapy. After 8 weeks of treatment, the mean percentage change of low density lipoprotein (LDL) particle size and triglyceride (TG) level was greater in patients who were prescribed 4 g of omega-3 fatty acid with statin than in patients receiving statin monotherapy (2.8%+/-3.1% vs. 2.3%+/-3.6%, P=0.024; -41.0%+/-24.1% vs. -24.2%+/-31.9%, P=0.049). Coadministration of omega-3 fatty acids with statin increased LDL particle size and decreased TG level in dyslipidemic patients with type 2 diabetes. The therapy was well tolerated without significant adverse effects.
Cholesterol ; Cholesterol, LDL ; Diabetes Mellitus, Type 2 ; Dyslipidemias ; Fatty Acids, Omega-3 ; Humans ; Hydroxymethylglutaryl-CoA Reductase Inhibitors ; Hypertriglyceridemia ; Korea ; Lipoproteins ; Particle Size

PURPOSE: We evaluated the prognostic significance of p53 and proliferating cell nuclear antigen(PCNA) in stage III gastric carcinoma to determine the correlation between the p53 and PCNA expression and various clinicopathological parameters. MATERIALS AND METHODS: The expression of p53 and PCNA were studied immunohistochemically in 64 cases of stage III gastric carcinomas with paraffin-embedded tissue specimens which were obtained surgically at the department of surgery, Presbyterian Medical Center from 1991 to 1992. Both expression were compared with known factors of prognosis. Survival rate and other clinicopathological parameters were analysed. RESULTS: Expression rates of p53 and high PCNA group were 40.6% and 26.6%, respectively. There was no significant correlation between the p53 and PCNA expression and various clinicopathological variables such as age, sex, stage, histology, tumor depth, number of metastatic node, tumor size, site and method of operation. To analyse survival, we evaluated overall survival according to the extent of p53 and PCNA expression. No significant correlations between the p53 and PCNA expression and overall survival were found. CONCLUSION: These results suggest that the p53 and PCNA expression seems to be hard to use as a prognostic indicator in stage III gastric carcinoma.
Prognosis ; Proliferating Cell Nuclear Antigen* ; Protestantism ; Survival Rate

PURPOSE: The rapid increase in the incidence of precocious puberty in Korea has clinical and social significance. Gonadotropin-releasing hormone (GnRH) stimulation test is required to diagnose central precocious puberty (CPP), however this test is expensive and time-consuming. This study aimed to identify factors that can predict a positive response to the GnRH stimulation test. METHODS: Clinical and laboratory parameters, including basal serum luteinizing hormone (LH), follicle-stimulating hormone (FSH), and estradiol (E2), were measured in 540 girls with clinical signs of CPP. RESULTS: Two hundred twenty-nine of 540 girls with suspected CPP had a peak serum LH level higher than 5 IU/L (the CPP group). The CPP group had advanced bone age (P<0.001), accelerated yearly growth rate (P<0.001), increased basal levels of LH (P=0.02), FSH (P<0.001), E2 (P=0.001), and insulin-like growth factor-I levels (P<0.001) compared to the non-CPP group. In contrast, body weight (P<0.001) and body mass index (P<0.001) were lower in the CPP group. Although basal LH was significantly elevated in the CPP group compared to the non-CPP group, there was considerable overlap between the 2 groups. Cutoff values of basal LH (0.22 IU/L) detected CPP with 87.8% sensitivity and 20.9% specificity. CONCLUSION: No single parameter can predict a positive response on the GnRH stimulation test with both high sensitivity and specificity. Therefore, multiple factors should be considered in evaluation of sexual precocity when deciding the timing of the GnRH stimulation test.
Body Mass Index ; Body Weight ; Diagnosis ; Estradiol ; Female* ; Follicle Stimulating Hormone ; Forecasting ; Gonadotropin-Releasing Hormone* ; Humans ; Incidence ; Korea ; Luteinizing Hormone ; Puberty, Precocious*

We reviewed the 2,095 cases among the 3,000 cases who underwent the intraocular lens(IOL) implantation from the first trial of IOL in 1978 to 30 th June, 1986. The data was analyzed by Minicomputer(Honewell Level 6 Model 57, U.S.A.) Cobal Language. The results were as follows; 1. Among the 2,095 cases, primary implantation was over 98%. The trend toward the posterior chamber lens(PCL) was increased annually. 2. The most commonly implanted intraocular lens power was +19.5D. in PCL and +18.0D. in ACL. Modified J loop type of PCL was used in 86% of PCL implantation. 3. The corrected visual acuity of 20/30 or better at postoperative 6 month follow-up was 78% in PCL group, and 70% in ACL group. 4. The mean spherical equivalent within +/-1.0D. at postoperative 6 month was 48% in cases were measured IOL power with biometry, and 37% in cases without biometry. 5. The average corneal endothelial cell loss at postoperative 6 month was 13.08 +/- 1.08% in PCL group, and 22.20 +/- 1.90% in ACL group. 6. The late postoperative complications were about 8%. There were pupillary abnormalities(21%), glaucoma(11%), after cataract(20%) and clinical cystoid macular edema(5%). 7. The preoperative mean corneal curvature(K-reading), axial length and IOL power was 42.9D., 23.9 mm and +18.4D., respectively.
Biometry ; Corneal Endothelial Cell Loss ; Follow-Up Studies ; Lens Implantation, Intraocular* ; Lenses, Intraocular* ; Postoperative Complications ; Visual Acuity