No abstract available.
Thoracoplasty*

Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder affecting 1 per 10,000- 15,000 female births worldwide. The disease-causing gene has been identified as MECP2 (methyl- CpG-binding protein 2). In this study, we performed diagnostic mutational analysis of the MECP2 gene in RTT patients. Four exons and a putative promoter of the MECP2 gene were analyzed from the peripheral blood of 43 Korean patients with Rett syndrome by PCR-RFLP and direct sequencing. Mutations were detected in the MECP2 gene in approximately 60.5% of patients (26 cases/43 cases). The mutations consisted of 14 different types, including 9 missense mutations, 4 nonsense mutations and 1 frameshift mutation. Of these, three mutations (G161E, T311M, p385fsX409) were newly identified and were determined to be disease-causing mutations by PCR- RFLP and direct sequencing analysis. Most of the mutations were located within MBD (42.3%) and TRD (50%). T158M, R270X, and R306C mutations were identified at a high frequency. Additionally, an intronic SNP (IVS3+23C>G) was newly identified in three of the patients. IVS3+23C>G may be a disease-related and Korea-specific SNP for RTT. L100V and A201V are apparently disease-causing mutations in Korean RTT, contrary to previous studies. Disease-causing mutations and polymorphisms are important tools for diagnosing RTT in Koreans. The experimental procedures used in this study should be considered for clinical molecular biologic diagnosis.
Rett Syndrome/diagnosis/*genetics ; Polymorphism, Single Nucleotide ; Polymorphism, Restriction Fragment Length ; Polymerase Chain Reaction ; *Mutation ; Molecular Sequence Data ; Methyl-CpG-Binding Protein 2/*genetics ; Male ; Korea ; Humans ; Female ; DNA Mutational Analysis ; Base Sequence

In this paper, a new superimposition scheme using a computer vision system was proposed with pairs of skull and ante-mortem photographs, which were already identified through other tests and DNA fingerprints at the Korea National Institute of Scientific Investigation. In this computer vision system, an unidentified skull was caught by video-camcoder with the MPEG and the other ante-mortem photograph was scanned by scanner. These two images were processed and superimposed using pixel processing. This recognition of individual identifications by anatomical references can be performed on the two superimposed images for many big cases like as Guam KAL accident in 1997.
Artificial Intelligence ; DNA Fingerprinting ; Guam ; Korea ; Skull

Implanting a valve that will reduce left ventricular mass is critical in aortic stenosis. Regression of left ventricular hypertrophy in 46 aortic valve replacement (AVR) patients receiving a St. Jude Medical (SJM) valve was assessed by serial electrocardiographic and echocardiographic studies during the preoperative, immediate, and late postoperative periods. The patients were divided into three groups according to valve size; 19 mm group (n=9), 21 mm group (n=20), and 23+mm group (n=17). There was no surgical mortality. The NYHA functional class improved from an average of 2.2+/-0.8 preoperatively to 1.3+/-0.5 post-operatively. Left ventricular muscle mass index (LVMI) regression failed to reach statistical significance in the 19 mm group, whereas in the other two groups a steady decrease in the LVMI occurred with follow up. ECG findings were less remarkable showing insignificant differences in voltage among the three groups (p=0.000). In conclusion, the current data suggest that the 19 mm SJM valve may not result in satisfactory left ventricular muscle mass regression despite adequate function, even in small patients. Therefore, additional procedures to accommodate a larger valve may be warranted in the aortic annulus smaller than 21 mm.
Adult ; Aged ; Aortic Valve/ultrasonography ; Aortic Valve Stenosis/surgery* ; Aortic Valve Stenosis/complications ; Echocardiography ; Electrocardiography ; Female ; Follow-Up Studies ; Heart Valve Prosthesis* ; Human ; Hypertrophy, Left Ventricular/prevention & control* ; Hypertrophy, Left Ventricular/etiology ; Hypertrophy, Left Ventricular/diagnosis ; Male ; Middle Age ; Multivariate Analysis ; Postoperative Period ; Remission Induction ; Risk Factors ; Treatment Outcome

PURPOSE: We performed this study to assess the suitability of conventional angiography (CA) vs. multi-detector row helical CT angiogram (MD-CTA) as a method of preoperative diagnostic imaging for low extremity arterial surgery. METHODS: From February 2004 to September 2006, 23 patients (4 claudicants, 19 limb-threatening ischemia) were studied with CA and MD-CTA preoperatively. The site and degree of stenotic or occlusive lesions in arterial segments from the renal artery to the dorsalis pedis artery were compared with both methods. We also compared the surgical inflow and outflow site changes in preoperative planning based on CA and MD-CTA and the final outcome. Additional diagnostic value and test-related complications were also analyzed. RESULTS: The median age of patients was 68 years old (range: 43~89 years), with a male to female ratio of 1.3:1. Twenty-three patients had CA after an MD-CTA scan. One hundred fifty lesions were detected in these patients. The total ratio of consistency for occlusion in CA vs. MD-CTA was 69.6%. Three patients received amputation treatment and eleven patients received a bypass operation. The agreement between the preoperative plan based on MD-CTA and the final operation was 100%, even in critical limb ischemia. There were no serious complications related to the tests. CONCLUSION: These findings suggest that MD-CTA is an adequate preoperative imaging study of infrainguinal arterial surgery and may be substituted for conventional angiography without any serious complications.
Amputation ; Angiography ; Arteries ; Diagnostic Imaging ; Extremities ; Female ; Humans ; Ischemia ; Male ; Renal Artery ; Tomography, Spiral Computed

Tailgut cysts (TGCs) are rare congenital cysts that occur in the retrorectal or presacral spaces. Although most tailgut cysts have been reported as benign, there have been at least 9 cases associated with malignant change. We report herein on an unusual case of a 40-year-old woman with a carcinoembryonic antigen (CEA) -producing adenocarcinoma arising within a TGC who underwent surgical resection and local radiation therapy. Despite the complete resection, metastatic adenocarcinoma developed five months after surgery. CEA-producing adenocarcinoma from a TGC is extremely rare and only two cases, including this case, have been reported in the English medical literature. Besides CEA, the serum levels of CA 19-9 became markedly elevated in this patient. Given that the serum CEA level decreased to the normal range after complete resection of tumor and that the tumor recurrence was associated with a rebound of the CEA serum level, our case shows that serial measurements of serum CEA can be used for treatment planning and for assessing the patient's treatment response for this rare disease.
Adenocarcinoma/blood/pathology/*therapy ; Adult ; CA-19-9 Antigen/blood ; Carcinoembryonic Antigen/*blood ; Cysts/blood/pathology/*therapy ; Female ; Hamartoma/blood/pathology/*therapy ; Humans ; Rectal Neoplasms/blood/pathology/*therapy ; Sacrococcygeal Region

From May 1989 to March 1994, 6 patients(2 men and 4 women, mean age 63.5 years[range 57 to 69]) with ventricular septal defect after acute myocardial infarction(MI) were seen at Catholic Medical center. The clinical features were as follows : 1) Neck vein engorgement, hepatomegaly and rale on lung auscultation were noted in 5 patients. 2) The acute MI was anterior in 5 patients and posterior in 1 patients. 3) The sites of rupture were apex in 4 patients, among 5 anterior wall MI patients. 4) Pansystolic murmur was heard on left lower precordial area in all patients. 5) Only 1 patient had a history of typical angina. 6) All VSDs occurred during patients's first heart attack. 7) All patients developed VSDs within 7 days after the onset of chest patin. 8)Among 4 patients who underwent coronary angiogram, 3 patients had multivessel coronary artery disease. 9) 2 patients who underwent operation survived but 4 patients who received only medical treatment expired. 10) The time interval from chest pain to death was 14.7 days(range 6 to 27).
Auscultation ; Chest Pain ; Coronary Artery Disease ; Female ; Heart ; Heart Septal Defects, Ventricular* ; Hepatomegaly ; Humans ; Lung ; Male ; Myocardial Infarction* ; Neck ; Respiratory Sounds ; Rupture ; Thorax ; Veins

PURPOSE: RUNX3, a novel tumor suppressor, is frequently inactivated in gastric cancer. In the present study, we examined the pattern of RUNX3 expression in gastric cancer cells from gastric cancer specimens and the impact of its alteration on clinical outcome. MATERIALS AND METHODS: A total of 124 samples of both gastric cancer and normal tissue were obtained from 124 patients who underwent curative gastrectomy at the Seoul Medical Center from January 2001 to December 2005. RUNX3 expression was determined by immunohistochemical staining, and the results were analyzed. Statistical analysis wabased on clinicopathological findings and differences in survival rates. RESULTS: The mean age of the patients was 61 years, and the male:female ratio was 1.9:1. The expression rate of RUNX3 was 59.7% (74/124). The expression rate was higher in differentiated gastric cancers (nucleus: 9.1%, cytoplasm: 57.6%) than in the undifferentiated types (nucleus: 5.2%, cytoplasm: 46.6%) (P=0.133). The 5-year survival rates according to RUNX3 expression determined from cancer tissue were 88.9% for the nucleus +/- cytoplasm(+) group of patients, 76.1% for the cytoplasm only (+) group of patients, and 65.3% for the RUNX3 negative expression group of patients (P=0.626). Only UICC TNM staging showed statistical significance related to the survival rate, as determined by multivariate analysis. CONCLUSION: The RUNX3 expression rate was higher in differentiated gastric cancer than in the undifferentiated types without significance. Although RUNX3 expression predicted better survival, based on multivariate analysis, the finding was not statistically significant. More cases should be further evaluated.
Cytoplasm ; Gastrectomy ; Humans* ; Multivariate Analysis ; Neoplasm Staging ; Prognosis ; Seoul ; Stomach Neoplasms* ; Survival Rate

The idiopathic hypereosinophilic syndrome represent a heterogenous group of disorders with common features of prolonged eosinophilia of an undetectable cause and organ system dysfunction. Recently, we experienced a case of idiopathic hypereosinophilic syndrome with multifocal cerebral infarction. The patient was 33-year-old male and visited our hospital with right upper extremity weakness and headache. The blood eosinophil counts were 8,316/mma and the marrow showed eosinophils were predominant and in mature forms The two-dimensional echocardiogram showed hyperechoic density at left ventricular apical wall without thrombus formation. Multifocal infarctions were seen at left cerebellar hemisphere, left thalamus, right frontal lobe and left periventricular white matter on brain MRI scan. No cause for hypereosinophilia was found. He was treated with prednisone and hydroxyurea.
Adult ; Bone Marrow ; Brain ; Cerebral Infarction* ; Eosinophilia ; Eosinophils ; Frontal Lobe ; Headache ; Humans ; Hydroxyurea ; Hypereosinophilic Syndrome* ; Infarction ; Magnetic Resonance Imaging ; Male ; Prednisone ; Thalamus ; Thrombosis ; Upper Extremity

PURPOSE: To evaluate the clinical features and characteristics of childhood periodic syndromes (CPS) in Korea using the new criteria of the International Classification of Headache Disorders (ICHD)-II. METHODS: The study was conducted at pediatric neurology clinics of five urban tertiary-care medical centers in Korea from January 2006 to December 2007. Patients (44 consecutive children and adolescents) were divided into three groups (cyclic vomiting syndrome [CVS], abdominal migraine [AM], and benign paroxysmal vertigo of childhood [BPVC]) by recurrent paroxysmal episodes of vomiting, abdominal pain, dizziness, and/or vertigo using the ICHD-II criteria and their characteristics were compared. RESULTS: Totally, 16 boys (36.4%) and 28 girls (63.6%) were examined (aged 4-18 yr), with 20 CVS (45.5%), 8 AM (18.2%), and 16 BPVC (36.4%) patients. The mean age at symptom onset was 6.3+/-3.6 yr, 8.5+/-2.7 yr, and 8.5+/-2.9 yr in the CVS, AM, and BPVC groups, respectively, showing that symptoms appeared earliest in the CVS group. The mean age at diagnosis was 8.0+/-3.4 yr, 10.5+/-2.6 yr, and 10.1+/-3.2 yr the CVS, AM, and BPVC groups, respectively. Of the 44 patients, 17 (38.6%) had a history of recurrent headaches and 11 (25.0%) showed typical symptoms of migraine headache, with 5 CVS (25.0%), 2 AM (25.0%), and 4 BPVC (25.0%) patients. Family history of migraine was found in 9 patients (20.4%): 4 in the CVS group (20.0%), 2 in the AM group (25.0%), and 3 in the BPVC group (18.8%). CONCLUSION: The significant time lag between the age at symptom onset and final diagnosis possibly indicates poor knowledge of CPS among pediatric practitioners, especially in Korea. A high index of suspicion may be the first step toward caring for these patients. Furthermore, a population-based longitudinal study is necessary to determine the incidence and natural course of these syndromes.
Abdominal Pain ; Child ; Dizziness ; Headache ; Headache Disorders ; Humans ; Incidence ; Korea ; Longitudinal Studies ; Migraine Disorders ; Neurology ; Resin Cements ; Vertigo ; Vomiting