Schizencephaly is a congenital brain anomaly, a disorder of cell migration characterized by gray matter-lined clefts, which is caused by faulty migration of the subependymal neuroblasts. The cleft may be closed (Type I) or open by a cavity communicating with the lateral ventricle (Type II). We identified the characteristic features of schizencephaly on CTs in one patient and on MRIs in 15 patients. Age at detection ranged from 16 months to 37 years. Three patients had bilateral clefts and 13 patients had unilateral cleft. Twelve patients had closed lip cleft whlle four patients had open lip cleft. Small sized unilateral closed cleft, the most comrnon type, was found in ten patients. Three patients had multiple clefts. Clinically these patients presented with seizures in 15 patients, motor disturbance in six patients, speech impairment in five patients, developemental delay in four patients, and mental retardation in three patients. The presence and severity of these symptoms correlated with the size and location of the lesions. Associated cerebral anomalies included ventricular dilatation in seen patients, agenesis of septum pallucidum in seven patients, other neuronal migration disorder in four patients, agenesis or dysgenesis of corpus callosum in three patients, septo-optic dysplasia in two patients, abnormal extension of svlvian fissure in one patient, and arteriovenous malformation in one patient.
Arteriovenous Malformations ; Brain ; Cell Movement ; Corpus Callosum ; Dilatation ; Humans ; Intellectual Disability ; Lateral Ventricles ; Lip ; Magnetic Resonance Imaging ; Malformations of Cortical Development* ; Neuronal Migration Disorders ; Seizures ; Septo-Optic Dysplasia

PURPOSE: To evaluate the change in pathogens in cultured Jones tubes used in lacrimal bypass surgery according to postoperative period and to provide basic data related to preventive antibiotics or functional lacrimal stent development. METHODS: Fifty patients who underwent Jones tubes removal were enrolled in this study. Removed Jones tubes were cultured to identify bacteria and were tested for antibiotic sensitivity. The results were further analyzed according to the period between lacrimal bypass surgery and tube removal. RESULTS: Among 50 cases, 24 (48%) showed cultured bacteria of Staphylococcus aureus, 5 (10%) were Pseudomonas, and another 5 (10%) were Gram-positive bacilli. Although Staphylococcus aureus was the most frequently cultured organism, Proteus mirabilis was the most common cultured organism in patients who underwent tube removal more than 10 years after lacrimal bypass surgery. There was no significant correlation between cultured organism and the period between lacrimal bypass surgery and tube removal. Eighty four percent of cultured Staphylococcus aureus showed resistance to penicillin, and 53% of cultured Staphylococcus aureus showed resistance to methicillin. CONCLUSIONS: Staphylococcus aureus was the most frequently cultured organism according to Jones tube-related lacrimal bypass surgery. A large proportion of cultured Staphylococcus aureus showed resistance to penicillin and methicillin. Proteus mirabilis should be considered the most common pathogen in patients more than 10 years after lacrimal bypass surgery.
Anti-Bacterial Agents ; Bacteria ; Humans ; Methicillin ; Penicillins ; Postoperative Period* ; Proteus mirabilis ; Pseudomonas ; Staphylococcus aureus ; Stents

Neuronal migration disorder is a rare group of congenital malfomations of the brain caused by insults to migrating neuroblasts during the six to fifteen gestational weeks. We identified 36 neuronal migration disorders on CTs in two patients and on MRIs in 34 patients and analyzed their characteristic radiologic, clinical, and EEG findings. These 36 patients with neuronal migration disorders consisted of 18 with schizencephaly, eight with pachygyria, five with heterotopias, three with lissencephaly, and two with polymicrogyria. Patient ranged in age from 6 months to 37 years old and mean age was 18.2 years old. Associated cerebral anomalies included ventricular dilatation in 13 patients, agenesis of septum pallucidum and hypoplasia of corpus callosum in nine patients. Lissencephaly was associated with other cerebral anomalies most frequently and all of them had ventricular dilatation and hypoplasia of corpus callosum. Only one patient with pachygyria had ventricular dilatation. Clinically, these patients presented with seizures in 91.7%, speech impairment in 33.3%, abnormal motor function in 30.5%, developmental delay in 27.8%, mental retardation in 25%. Patients with large or medium size of neuronal migration disorders had significantly more severe developmental delay(p=0.001), mental retardation (p=0.004) and speech impairment (p=0.01) than those with small size. Abnormal motor dysfunctions were not significantly associated with lesion size statistically. Seizures did not correlate with lesion size.
Adult ; Brain ; Corpus Callosum ; Dilatation ; Electroencephalography ; Humans ; Intellectual Disability ; Lissencephaly ; Magnetic Resonance Imaging ; Malformations of Cortical Development ; Neuronal Migration Disorders* ; Neurons* ; Seizures

BACKGROUND AND OBJECTIVES: The human vestibule is known to be able to induce cervical muscle potential secondary to strong acoustic stimulations. This reflex is assumed to originate in the saccule, and is called "vestibular evoked myogenic potentials" (VEMP). The responses consist of alternatively positive and negative successive waves (p13-n23). This study was designed to evaluate the clinical significance of VEMP. MATERIALS AND METHOD: We studied the difference among the latencies of p13, n23 and the amplitudes among the 10 normal volunteers, 5 patients with sudden sensorineural hearing loss and 10 patients with vestibulopathy. And we compared the result of the caloric test and VEMP in patients with vestibulopathy. RESULTS: In the normal group, VEMP was detected in all and all of the sudden sensorineural hearing loss patients showed VEMP both in the affected and unaffected side. In unilateral vestibulopathy patients, VEMP were present in the unaffected side but not in the affected side. The difference between the amplitudes and latencies were not found in those cases where VEMP was detected. In vestibulopathy patients, VEMP were well correlated with the result of the caloric tests. CONCLUSION: We confirmed that VEMP is originated from the vestibule, not from cochlea. VEMP could provide itself as an addition method for testing the vestibule.
Acoustics ; Caloric Tests ; Cochlea ; Healthy Volunteers ; Hearing Loss, Sensorineural ; Humans ; Reflex ; Saccule and Utricle

BACKGROUND/AIMS: Various factors have been reported that can predict the clinical course and outcome of patients with gastrointestinal (GI) carcinoid tumors. We analyzed the clinical characteristics of GI carcinoid tumors and the factors associated with metastasis. METHODS: We retrospectively analyzed the clinical manifestations, treatment modalities and prognosis of 83 patients with GI carcinoid tumors. RESULTS: The mean age of the patients was 48 years old. The locations of the carcinoid tumors were rectum (n=60), stomach (n=12), duodenum (n=6), appendix (n=4) and colon (n=1). The most common symptom was non-specific (n=65, 79.5%), and the mean tumor size was 11.2 mm. The main treatment modality was endoscopic resection (n=66, 79.5%). Nine patients showed metastasis, and all of their tumors were larger than 2 cm. Univariate analysis revealed that size, ulceration and invasion of the proper muscle layer were significant factors associated with metastasis. Tumor size (p=0.001) was the only independent factor on multivariate analysis. CONCLUSIONS: The diagnosis of small sized, asymptomatic GI carcinoid tumors has increased and endoscopic treatment was a useful modality. Tumor size was a predictive factor for metastasis.
Appendix ; Carcinoid Tumor ; Colon ; Duodenum ; Humans ; Multivariate Analysis ; Muscles ; Neoplasm Metastasis ; Prognosis ; Rectum ; Retrospective Studies ; Stomach ; Ulcer

BACKGROUND/AIMS: Recently, nucleotide sequences from a novel virus, termed hepatitis G virus (HGV), were identified in serum from a patient with cryptogenic hepatitis and suggested as agent of non A-E hepatitis. HGV has been isolated from patients with various liver diseases but clinical implications of this new agent remain largely unresolved. In Korea, the etiology of substantial fraction of hepatitis has remained undefined and there has been no report concerning HGV. METHODS: To determine the infection rate of HGV, RT-PCR of 5 UTR of HGV was performed, and to understand the clinical implication of HGV, medical records of 115 patients with various liver diseases were reviewed. Of 115 patients, 63 were male and 52 were female. Their mean age was 44 years (19-74) and their mean AST and ALT were 121.3+278.7 IU/L and 172.2+253.3 IU/L, respectively. Of 115 patients, 58 (50.4%) had no specific cause of liver diseases, 37 (32.2%) were infected with hepatitis B and/or C virus and 20 (17.4%) had non-viral identifiable liver diseases. RESULTS: 1. HGV RNA was detected in 15 (13.0%) patients of 115 patients. 2, Among the 15 HGV RNA positive cases, 7 were male and 8 were female. Their mean age was 48 years (19-72) and their mean AST and ALT were 71.9+45.2 IU/L, 97.4+66.8 IU/I respectively. 3. HGV RNA was detected in 8(13.8%) of 58 patients without obvious causes of their liver diseases and in 7 (18.9%) of 37 patients infected with HBV and/or HCV. However, HGV RNA was not detected fram 20 patients with non-viral liver diseases such as alcoholic liver diseases, autoimmune hepatitis, PBC, or fatty liver. 4. HGV RNA was detected in 5 (19.2%) of 26 patients with acute hep- atitis, in 6 (9.4%) of 64 patients with chronic hepatitis, in 1 (14.3%) of 7 patients with liver cirrhasis, and iB 3 (27.3%) Of 11 pafients with hepatocellular caIcinoma. 5. These was no slatistically significant difference in sex, age, history of transfusion, serum ALT level, etiologies and status of liver diseases between HGV RNA positve and negative group. CONCLUSIONS: the prevalence of HGV infection is quite high among the patients who have no specific cause of acute or chronic liver diseases and HGV can be coinfected with HBV and/ar HCV infection in Korea.
Base Sequence ; Fatty Liver ; Female ; GB virus C* ; Hepatitis B ; Hepatitis* ; Hepatitis, Autoimmune ; Hepatitis, Chronic ; Humans ; Korea ; Liver Diseases* ; Liver Diseases, Alcoholic ; Liver* ; Male ; Medical Records ; Polymerase Chain Reaction* ; Prevalence ; RNA*

Childhood-onset proximal spinal muscular atrophies (SMAs) are an autosomal recessive, clinically heterogeneous group of neuronopathies characterized by selective degeneration of anterior horn cells. The causative genes to be reported are survival motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) genes. The deletion of telomeric copy of SMN (SMN(T)) gene was observed in over 95% of SMAs. The deletion rate of NAIP gene is 20-50% according to disease severity. The objective of this article is to genetically characterize the childhood-onset spinal muscular atrophy in Koreans. Five Korean families (14 constituents containing 5 probands) with SMA were included in this study. Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) were used for the deletion analysis of SMN(T). Multiplex PCR method was used for NAIP analysis. Four probands showed deletion of SMNT gene. Deletion of SMN(C) (centromeric SMN) gene was found in one proband who did not show the deletion of SMN(T) gene and in the father of one proband who showed the deletion of SMN(T) gene. The deletion of NAIP gene was not found among all the studied individuals. The extent of deletion in Koreans was smaller than that in other studied population. PCR-RFLP deletion analysis can be applied to diagnose SMA and make a prenatal diagnosis.
Adolescence ; Exons ; Female ; Gene Deletion* ; Human ; Infant ; Male ; Muscular Atrophy, Spinal/genetics* ; Nerve Tissue Proteins/genetics* ; Polymerase Chain Reaction

BACKGROUND: Screening tests for hepatocellular carcinoma (HCC) in the high risk population can detect tumors at an earlier stage and thus confer a higher chance of receiving treatment. However, the usefulness, frequency and cost-effectiveness of screening for HCC may differ in different areas, possibly reflecting differences in risk factors. Last decade, we have identified risk factors for HCC in 4339 Korean patients. The aim of this study was to investigate the efficacy and usefulness of individual prediction model for the early diagnosis of HCC. METHODS: We studied a total of 833 patients who visited Yonsei University Medical Center for regular check-up including ultrasonography and alpha-fetoprotein from January 1999 to December 2000. The patients were classified into a low risk group (< 5%), an intermediate risk group (5~15%), and an high risk group (> 15%) by the probability of HCC development according to individual prediction model (IPM). The patients who developed HCC during the follow-up periods were analyzed using IPM. All the detailed data of clinical parameters were obtained by our self-exploited data base system prospectively and analyzed by SAS program. RESULTS: 44 (5.3%) out of 833 patients developed HCC during mean follow-up periods of 36 months. According to IPM, 2 (0.62%) of 324 patients in the low risk group, 20 (4.84%) of 413 patients in the intermediate risk group, and 22 (22.9%) of 96 patients in the high risk group were diagnosed as HCC. In 29 of 44 HCC patients (65.9%), initial presentation of tumor size was less than 3 cm in diameter. CONCLUSION: We confirmed the reliability of established IPM for screening of HCC and this model may help screening program to be done effectively by focusing high risk groups for HCC.
Academic Medical Centers ; alpha-Fetoproteins ; Carcinoma, Hepatocellular* ; Early Diagnosis* ; Follow-Up Studies ; Humans ; Mass Screening ; Prospective Studies ; Risk Factors ; Ultrasonography

Despite a remarkable increase of deceased donors, organ shortage is the main hurdle of organ transplantation in Korea. Therefore, liver transplantation priority is a major issue of liver allocation. We confront a situation that needs to change in order to achieve more adequate and objective allocation of the system. We considered the MELD system as an alternative to the CTP score and Status system. For application of the MELD system, comparison between two systems is required; and a national-based retrospective review of liver transplantation candidates (waiting list) was conducted as a multi-center collaborative study. Eleven transplant centers participated in this national study. From 2009 to 2012, 2,702 waiting lists were enrolled. After mean 349+/-412 days follow-up, 967 patients (35.8%) of liver transplantation, 750 patients (27.8%) of drop-out/mortality, and 719 patients (26.6%) on waiting were identified. In analysis of patient mortality during waiting time, status system showed significant difference of waiting mortality by status at registration. However, differences of waiting mortality by MELD system were more prominent and discriminate. In comparisons by MELD score in exclusive Status 2A waiting patients, there was a significant difference of waiting mortality by MELD score. This means that the MELD system is a good predictor of short-term survival after listing compared with status system with CTP score. Korean national-based retrospective study showed the superiority of the MELD system in prediction of short-term mortality and usefulness as a determinant for allocation priority.
Cytidine Triphosphate ; Emergencies* ; End Stage Liver Disease ; Follow-Up Studies ; Humans ; Korea ; Liver Transplantation* ; Liver* ; Mortality ; Organ Transplantation ; Resource Allocation ; Retrospective Studies ; Survival Analysis* ; Tissue Donors* ; Transplants ; Waiting Lists

Background/Aims: To analyze the incidence and risk factors of outcomes after liver transplantation (LT) in the Korean population. Methods: This study analyzed data from the liver cohort of Korean Organ Transplantation Registry (KOTRY) who had LT between May 2014 and December 2017. Study measures included the incidence of post-LT outcomes in recipients of living donor LT (LDLT) and deceased donor LT (DDLT). Cox multivariate proportional hazards model was used to determine the potential risk factors predicting the outcomes. Results: A total of 2,563 adult recipients with LT (LDLT, n=1,956; DDLT, n=607) were included, with mean±standard deviation age of 53.9±8.9 years, and 72.2% were male. The post-LT outcomes observed in each LDLT and DDLT recipients were death (4.0% and 14.7%), graft loss (5.0% and 16.1%), rejection (7.0% and 12.0%), renal failure (2.7% and 13.8%), new onset of diabetes (12.5% and 15.4%), and hepatocellular carcinoma (HCC) recurrence (both 6.7%). In both LDLT and DDLT recipients, the most common post-LT complications were renal dysfunction (33.6% and 51.4%), infection (26.7% and 48.4%), and surgical complication (22.5% and 23.9%). Incidence of these outcomes were generally higher among recipients of DDLT than LDLT. Multivariate analysis indicated recipient age and DDLT as significant risk factors associated with death and graft loss. DDLT and ABO incompatible transplant were prognostic factors for rejection, and HCC beyond Milan criteria at pre-transplant was a strong predictor of HCC recurrence. Conclusions This study is a good indicator of the post-LT prognosis in the Korean population and suggests a significant burden of post-LT complications.