Objective: Conflicting results regarding SOX17 genes and the risk of intracranial aneurysms (IA) exist in the Korean population, although significant positive correlations were noted in genome-wide association studies in European and Japanese populations. Therefore, we aimed to investigate an association between SOX17 gene variants and IA using exome sequencing data. Methods: This study included 26 age-gender matched IA patients and 26 control subjects. The SOX17 gene variants identified from whole-exome sequencing data were examined. Genetic associations to estimate odds ratio (OR) and 95% confidence interval (CI) were performed using the software EPACTS. Results: The mean age of the IA and control groups were 51.0±9.3 years and 49.4±14.3 years, respectively (p=0.623). Seven variants of SOX17, including six single nucleotide polymorphisms and one insertion and deletion, were observed. Among these variants, rs12544958 (A>G) showed the most association with IA, but the association was not statistically significant (OR, 1.97; 95% CI, 0.81-4.74; p=0.125). Minor allele frequencies of the IA patients and controls were 0.788 and 0.653, respectively. None of the remaining variants were significantly associated with IA formation. Conclusion No significant association between SOX17 gene variants and IA were noted in the Korean population. A large-scale exome sequencing study is necessary to investigate any Korean-specific genetic susceptibility to IA.

Primary extraosseous intracranial Ewing sarcoma (ES) is an extremely rare disease, limited to the pediatric population, that primarily originates in the skull. Here, we present an unusual case of adult Ewing’s sarcoma originating from the brain parenchyma. The 50-year-old male patient visited our hospital with severe headache lasting 3 weeks. MRI presented 6.1×6.2×5.2 cm sized heterogeneously enhanced mass containing peritumoral edema in the right frontal lobe. The patient underwent right frontal craniotomy, at which time the gray and red masses adhered to the surrounding brain parenchyma. The mass was completely resected using neuronavigation and electrophysiological monitoring. Histopathological examination revealed ES-compatible findings of small round cell tumor and CD-99 positive membranous immunostaining. Next generation sequencing revealed translocation and fusion of EWSR1 and FLI1, consistent with a confirmed diagnosis of ES. Consequently, the patient underwent postoperative radiotherapy. The present case revealed adult primary intracranial ES arising from the frontal lobe. Although its etiology remains poorly understood, intraparenchymal ES should be included in the differential diagnosis of parenchymal brain tumors.

Ehlers-Danlos syndrome type IV(the arterial-ecchymotic type) which has skin fragility, easy bruisability, and j oint hyperextensibility is occasionally combined with large vessel involve-ment and spontaneous catastrophic bleeding. As even a small inj ury can cause profound vascular tearing and damage, surgical management is hazardous and often unrewarding. We report a successful surgical treatment of an acute type A aortic dissection associated with Ehlers-Danlos syndrome.
Ehlers-Danlos Syndrome* ; Hemorrhage ; Skin

Repair of the aortic valve has received considerably less attention than repair of the mitral or tricuspid valves. Reasons for this may include the greater incidence of stenosis in the aortic valve relative to insufficiency, the degenerative processes that lead to valvular dysfunction reducing the number of potentially repairable valves, and the presence of a wider variety of valve substitutes with lower thromboembolic potential and greater longevity than for the mitral position. Furthermore, the functional structure and redundancy of the mitral and tricuspid valves may be more amenable to plastic techniques. Most surgeons treat all aortic valve pathology with a replacement. In part, this management strategy is justified by the excellent long-term results with available prostheses. Since valve replacement in the younger adult has the inherent problems associated with anticoagulation and/or prosthesis durability, repair, if durable, has the potential for a good solution in this patient population. We reviewed the surgical indications, techniques, clinical results, and current status of aortic valve repair.
Adult ; Aortic Valve Insufficiency ; Aortic Valve* ; Constriction, Pathologic ; Humans ; Incidence ; Longevity ; Pathology ; Plastics ; Prostheses and Implants ; Prosthesis Failure ; Tricuspid Valve

Repair of the aortic valve has received considerably less attention than repair of the mitral or tricuspid valves. Reasons for this may include the greater incidence of stenosis in the aortic valve relative to insufficiency, the degenerative processes that lead to valvular dysfunction reducing the number of potentially repairable valves, and the presence of a wider variety of valve substitutes with lower thromboembolic potential and greater longevity than for the mitral position. Furthermore, the functional structure and redundancy of the mitral and tricuspid valves may be more amenable to plastic techniques. Most surgeons treat all aortic valve pathology with a replacement. In part, this management strategy is justified by the excellent long-term results with available prostheses. Since valve replacement in the younger adult has the inherent problems associated with anticoagulation and/or prosthesis durability, repair, if durable, has the potential for a good solution in this patient population. We reviewed the surgical indications, techniques, clinical results, and current status of aortic valve repair.
Adult ; Aortic Valve Insufficiency ; Aortic Valve* ; Constriction, Pathologic ; Humans ; Incidence ; Longevity ; Pathology ; Plastics ; Prostheses and Implants ; Prosthesis Failure ; Tricuspid Valve

A 51-year-old male patient was referred for a sudden out-of-hospital cardiac arrest. Upon arrival, he was conscious and had no chest pain complaints. There was no abnormality in initial electrocardiographic and echocardiographic examinations. However, episodes of recurrent ventricular fibrillation (VF) were documented on rhythm monitoring. Each VF episode was triggered by an isolated monomorphic ventricular premature complex (VPC). Suspecting idiopathic VF, emergency radiofrequency catheter ablation was planned for the VPCs. However, when coronary angiography was performed to exclude silent ischemia, the results showed a total occlusion of the right coronary artery posterolateral branch, which is thought to supply the left ventricular inferior and septal wall. After successful reperfusion, VF episodes and the triggering VPCs disappeared. We are documenting this case to emphasize the potential for silent myocardial infarction to cause out-of-hospital sudden cardiac arrest even in a patient without any symptom or sign of acute coronary syndrome.
Acute Coronary Syndrome ; Catheter Ablation ; Chest Pain ; Coronary Angiography ; Coronary Vessels ; Death, Sudden, Cardiac ; Echocardiography ; Electrocardiography ; Emergencies ; Heart Arrest* ; Humans ; Ischemia ; Male ; Middle Aged ; Myocardial Infarction* ; Out-of-Hospital Cardiac Arrest ; Reperfusion ; Ventricular Fibrillation* ; Ventricular Premature Complexes*

The purpose of this study was to evaluate the amount and interrelationship of hard and soft tissue changes after mandibular setback osteotomy and reduction genioplasty in mandibular prognathism with long anterior facial height. The control group (Group A) consisted of 20 patients who had severe horizontal discrepancy. They experienced presurgical orthodontic treatment and orthognathic surgery via mandibular setback. The experimental group (Group B) consisted of 20 patients who had severe horizontal and vertical discrepancy. They experienced presurgical orthodontic treatment and orthognathic surgery via mandibular setback and reduction genioplasty. The presurgical and postsurgical lateral cephalograms were valuated. The computerized statistical analysis was carried on with EXCEL 97 program. The results were as follows : 1. The correlation of hard and soft tissue horizontal changes in lower 2/3 of lower anterior facial height were high for both groups. The correlation coefficients of hard tissue changes and Ls, Stm, Li changes in group B were moderately higher than Group A. 2. The correlation of hard and soft tissue vertical changes in Group B were lower than Group A. (except for pointB-Ils, Me-Me') 3. The ratio for soft tissue to Pog in Group B was lower than Group A. The ratios of hard and soft tissue vertical changes were 32% at Ils, 54% at Pog', and 60% at Me'. 4. The ratio of lower anterior facial height to total anterior facial height was reduced for both group. But ratio of upper 1/3 of lower anterior facial height to total anterior facial height did not changed significantly in Group B. 5. Reduction genioplasty combined with mandibular setback procedure showed no change in upper one third(Sn-Stm) and significant decrease(Stm-Me') in the lower two thirds of the soft-tissue anterior lower facial height.
Genioplasty* ; Humans ; Orthognathic Surgery ; Osteotomy* ; Prognathism*

Acute hepatitis E is an endemic disease, commonly reported in Indian subcontinent, China, Africa, Central America, and so forth. It is a self-limiting disease like other acute hepatitis except in pregnant patient. Although sporadic hepatitis E is noted all over the world, most of them are associated with travel history to HEV-endemic area. In Korea, Hepatitis E is rarely reported. Moreover, sporadic acute hepatitis E without travel history to HEV-endemic area is very rare. We experienced three sporadic cases of acute hepatitis E, without travel history. All of them presented acute hepatitis symptoms, elevated aminotransferase, and positive IgM HEV Ab. Symptoms and aminotransferase levels were normalized during hospitalization and IgM HEV Ab converted negative after 4-8 months. We report three sporadic cases of onset-acute hepatitis E without travel history to HEV-endemic area.
Acute Disease ; Adult ; Alanine Transaminase/analysis ; Aspartate Aminotransferases/analysis ; Female ; Hepatitis E/*diagnosis ; Humans ; Male

OBJECTIVE: The aim of this study is to determine the association between the cerebrospinal fluid (CSF) biomarkers and inflammation, and the predictive value of these CSF biomarkers for subsequent shunt associated infection. METHODS: We obtained CSF samples from the patients with hydrocephalus during ventriculoperitoneal (VP) shunt operations. Twenty-two patients were enrolled for this study and divided into 3 groups: subarachnoid hemorrhage (SAH)-induced hydrocephalus, idiopathic normal pressure hydrocephalus (INPH) and hydrocephalus with a subsequent shunt infection. We analyzed the transforming growth factor-beta1, tumor necrosis factor-alpha, vascular endothelial growth factor (VEGF) and total tau in the CSF by performing enzyme-linked immunosorbent assay. The subsequent development of shunt infection was confirmed by the clinical presentations, the CSF parameters and CSF culture from the shunt devices. RESULTS: The mean VEGF concentration (+/-standard deviation) in the CSF of the SAH-induced hydrocephalus, INPH and shunt infection groups was 236+/-138, 237+/-80 and 627+/-391 pg/mL, respectively. There was a significant difference among the three groups (p=0.01). Between the SAH-induced hydrocephalus and infection groups and between the INPH and infection groups, there was a significant difference of the VEGF levels (p<0.01). However, the other marker levels did not differ among them. CONCLUSION: The present study showed that only the CSF VEGF levels are associated with the subsequent development of shunt infection. Our results suggest that increased CSF VEGF could provide a good condition for bacteria that are introduced at the time of surgery to grow in the brain, rather than reflecting a sequel of bacterial infection before VP shunt.
Bacteria ; Bacterial Infections ; Biomarkers ; Brain ; Enzyme-Linked Immunosorbent Assay ; Humans ; Hydrocephalus ; Hydrocephalus, Normal Pressure ; Inflammation ; Subarachnoid Hemorrhage ; Tumor Necrosis Factor-alpha ; Vascular Endothelial Growth Factor A ; Ventriculoperitoneal Shunt

The Bjork-Shiley Monostrut valve is tilting disc mechanical valve prosthesis. This study was designed to present the long-term outcome of our experience. One hundred and thirty-seven Bjork-Shiley Monostrut valves were implanted in 101 consecutive patients from November 1983 to February 1990. There were 60 male and 41 female with mean age of 34.5 yr at the time of operation. Fifty-nine patients underwent single valve replacement, 38 had double valve, and 4 had triple valve replacement. There were six in-hospital deaths (5.9%): three from cardiopulmonary bypass weaning failure and one each from septic shock, sudden cardiac arrest, and uncontrollable bleeding. Mean duration of follow-up was 181.2+/-76.2 months. Overall survival was 86.2% at 15 yr and 83.1% at 20 yr. Patients with mitral valve replacement had 93.5% and 90.2% cumulative survival at 10 and 15 yr, respectively, while patients with aortic valve replacement had 91.1% and 86.5% cumulative survival at 10 and 15 yr. Two groups had no significant difference in survival. Double valve replacement patients had 92.2% and 84.0% survival at 10 and 15 yr, respectively. There were no significant differences in survival between the single and double valve replacement groups. Freedom from thromboembolism was noted in: 97.8%, 97.8%, 96.4% and 87.8% at 5, 10, 15 and 20 yr, respectively. Absence of endocarditis was noted in 98.6% and 94.8% at 15 and 20 yr. Absence of reoperation was 92.5% at 20 yr. In conclusion, the Bjork-Shiley Monostrut valve is reliable, with a similar incidence of valve-related morbidity as in other mechanical valves.
Adolescent ; Adult ; Anticoagulants/adverse effects ; Child ; Endocarditis/etiology ; Female ; *Heart Valve Prosthesis/adverse effects ; Humans ; Male ; Middle Aged ; Prosthesis Failure ; Survival Rate ; Thromboembolism/etiology