BACKGROUND: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare inherited disorder characterized by infantile-onset macrocephaly, slow neurologic deterioration, and seizures. Mutations in the causative gene, MLC1, are found in approximately 75% of patients and are inherited in an autosomal recessive manner. We analyzed MLC1 mutations in five unrelated Korean patients with MLC. METHODS: Direct Sanger sequencing was used to identify MLC1 mutations. A founder effect of the p.Ala275Asp variant was demonstrated by haplotype analysis using single-nucleotide polymorphic (SNP) markers. Multiple ligation-dependent probe amplification (MLPA) and comparative genomic hybridization plus SNP array were used to detect exonic deletions or uniparental disomy (UPD). RESULTS: The most prevalent pathogenic variant was c.824C>A (p.Ala275Asp) found in 7/10 (70%) alleles. Two pathogenic frameshift variants were found: c.135delC (p.Cys46Alafs*12) and c.337_353delinsG (p.Ile113Glyfs*4). Haplotype analysis suggested that the Korean patients with MLC harbored a founder mutation in p.Ala275Asp. The p.(Ile113Glyfs*4) was identified in a homozygous state, and a family study revealed that only the mother was heterozygous for this variant. Further analysis of MLPA and SNP arrays for this patient demonstrated loss of heterozygosity of chromosome 22 without any deletion, indicating UPD. The maternal origin of both chromosomes 22 was demonstrated by haplotype analysis. CONCLUSIONS: This study is the first to describe the mutational spectrum of Korean patients with MLC, demonstrating a founder effect of the p.Ala275Asp variant. This study also broadens our understanding of the mutational spectrum of MLC1 by demonstrating a homozygous p.(Ile113Glyfs*4) variant resulting from UPD of chromosome 22.
Alleles ; Chromosomes, Human, Pair 22* ; Comparative Genomic Hybridization ; Exons ; Founder Effect ; Haplotypes ; Humans ; Leukoencephalopathies* ; Loss of Heterozygosity ; Megalencephaly ; Mothers ; Seizures ; Uniparental Disomy*

BACKGROUND AND OBJECTIVES: The aim of this study was to investigate the effect of pulmonary valve replacement (PVR) on exercise capacity and determine cardiopulmonary exercise (CPEX) parameters associated with improvement in right ventricle (RV) function. SUBJECTS AND METHODS: We retrospectively analyzed CPEX and magnetic resonance imaging parameters in a total of 245 patients who underwent PVR from January 1998 to October 2015. In addition, we analyzed the characteristics of the patients who showed improved exercise capacity after PVR. RESULTS: Twenty-eight patients met the inclusion criteria for the study. CPEX parameters after PVR showed no significant changes in all patients. However, baseline predicted peak oxygen uptake (VO2(peak)) (%) value was significantly lower in patients with significant improvement in exercise capacity after PVR, as compared to patients who showed decreased exercise capacity after PVR (60.83±10.28 vs. 75.81±13.83) (p=0.003). In addition, patients with improved exercise capacity showed a positive correlation between the change of right ventricular ejection fraction (RVEF) (%) and the change of anaerobic threshold (r=0.733, p=0.007); whereas, patients with decreased exercise capacity showed a negative correlation between the change of RVEF (%) and the change of predicted VO2(peak) (%) (r=−0.575, p=0.020). CONCLUSION: The importance of predicted VO2(peak) (%) in evaluating exercise capacity differentiated from other CPEX variables. The change of anaerobic threshold and predicted VO2(peak) (%) might be a useful predictor of the change in RV function after PVR.
Anaerobic Threshold ; Exercise Test ; Heart Ventricles ; Humans ; Magnetic Resonance Imaging ; Oxygen ; Pulmonary Valve* ; Retrospective Studies ; Stroke Volume ; Tetralogy of Fallot*

PURPOSE: To investigate the clinical outcomes of distal hook augmentation using a pedicle screw in thoracolumbar fusion in elderly patients. MATERIALS AND METHODS: This retrospective multicenter study recruited 20 patients aged 65 years or older, who underwent anterior support and long level posterior fusion in the thoracolumbar junction with a follow-up of one year. To assess the effect of distal hook augmentation, the patients were divided into two groups; the pedicle screw with hook group (PH group, n=10) and the pedicle screw alone group (PA group, n=10). RESULTS: The average age was 72.4 years (65–83 years). The average fusion segment was 4.6 segments (3–6 segments). There were no significant differences in age, sex, causative diseases, bone mineral density of lumbar and proximal femur, number of patients with osteoporosis, and number of fused segments between the two groups (p≥0.05). At 1 year follow-up after surgery, parameters related with distal screw pullout were significantly worse in the PA group. No patients in the PH group had distal screw pullout. However, six patients (60%, 6/10) in the PA group had distal screw pullout. There were no significant differences in the progression of distal junctional kyphosis between the two groups. CONCLUSION: Distal hook augmentation is an effective procedure in protecting distal pedicle screws against the pullout when long level thoracolumbar fusion was performed in elderly patients aged 65 years or older.
Aged* ; Bone Diseases ; Femur ; Follow-Up Studies ; Humans ; Hydrogen-Ion Concentration ; Kyphosis ; Miners ; Osteoporosis ; Pedicle Screws* ; Retrospective Studies ; Spinal Fusion

PURPOSE: Generally, aspirin is used as a protective agent against thrombogenic phenomenon after pulmonary valve replacement (PVR) using a bioprosthetic valve. However, the appropriate duration of aspirin use is unclear. We analyzed the impact of postoperative duration of aspirin use on the longevity of bioprosthetic pulmonary valves in patients who underwent repair for congenital heart diseases. METHODS: We retrospectively reviewed the clinical data of 137 patients who underwent PVR using a bioprosthetic valve between January 2000 and December 2003. Among these patients, 89 were included in our study and divided into groups I (≤12 months) and II (>12 months) according to duration of aspirin use. We analyzed echocardiographic data from 9 to 11 years after PVR. Pulmonary vale stenosis and regurgitation were classified as mild, moderate, or severe. RESULTS: The 89 patients consisted of 53 males and 36 females. Their mean age was 14.3±8.9 years (range, 2.6–48 years) and body weight was 37.6±14.7 kg (range, 14–72 kg). The postoperative duration of aspirin use was 7.3±2.9 months in group I and 32.8±28.4 months in group II. However, no significant difference in sex ratio, age, body weight, type of bioprosthetic valve, and number of early redo-PVRs. In the comparison of echocardiographic data about 10 years later, no significant difference in pulmonary valve function was found. The overall freedom rate from redo-PVR at 10 years showed no significant difference (P=0.498). CONCLUSION: Our results indicated no benefit from long-term aspirin medication (>6 months) in patients who underwent PVR with a bioprosthetic valve.
Aspirin* ; Body Weight ; Constriction, Pathologic ; Echocardiography ; Female ; Freedom ; Heart Defects, Congenital* ; Heart Diseases ; Humans ; Longevity* ; Male ; Pulmonary Valve* ; Retrospective Studies ; Sex Ratio

OBJECTIVES: The aim of this study was to investigate factors associated with sleep disorders in male firefighters working in a metropolitan city in South Korea. METHODS: Self-administered questionnaires including the Nordic Musculoskeletal Questionnaire, Korean Occupational Stress Scale-Short Form, Psychosocial Well-Being Index-Short Form, Pittsburg Sleep Quality Index, and Beck-Depression Inventory-2 as well as surveys collecting socio-demographic characteristics and work-related factors were given to 730 male firefighters. After exclusion for missing data, 657 male firefighters were included, and logistic regression analysis adjusted for the work-related factors, psychosocial factors, and general risk factors were used to assess the relationship between sleep disorders and associated factors. RESULTS: The prevalence of sleep disorders was 48.7%. Shift work (adjusted OR 1.58, 95% CI = 1.02-2.45), musculoskeletal symptoms (adjusted OR 2.89, 95% CI = 2.02-4.14), and depression (adjusted OR 7.04 95% CI = 4.03-12.30) were associated with sleep disorders. CONCLUSIONS: Musculoskeletal symptoms, shift work, and depression are associated with sleep disorders. Integrated health management is needed to promote good sleep quality among firefighters.
Depression ; Firefighters* ; Humans ; Korea ; Logistic Models ; Male* ; Prevalence ; Psychology ; Risk Factors ; Sleep Disorders*

BACKGROUND/AIMS: Synchronous/metachronous gastric epithelial neoplasias (GENs) in the remaining lesion can develop at sites other than the site of endoscopic resection. In the present study, we aimed to investigate the predictive value of serum pepsinogen for detecting multiple GENs in patients who underwent endoscopic resection. METHODS: In total, 228 patients with GEN who underwent endoscopic resection and blood collection for pepsinogen I and II determination were evaluated retrospectively. RESULTS: The mean period of endoscopic follow-up was 748.8+/-34.7 days. Synchronous GENs developed in 46 of 228 (20.1%) and metachronous GENs in 27 of 228 (10.6%) patients during the follow-up period. Multiple GENs were associated with the presence of pepsinogen I <30 ng/mL (p<0.001). Synchronous GENs were associated with the presence of pepsinogen I <30 ng/mL (p<0.001). CONCLUSIONS: Low pepsinogen I levels predict multiple GENs after endoscopic resection, especially synchronous GENs. Cautious endoscopic examination prior to endoscopic resection to detect multiple GENs should be performed for these patients.
Female ; Gastroscopy ; Humans ; Male ; Middle Aged ; Neoplasms, Glandular and Epithelial/*diagnosis/surgery ; Neoplasms, Multiple Primary/*diagnosis/surgery ; Pepsinogen A/*deficiency ; Predictive Value of Tests ; Retrospective Studies ; Stomach Neoplasms/*diagnosis/surgery

Self expandable metal stent can be used both as palliative treatment for malignant colorectal obstruction and as a bridge to surgery in patients with potentially resectable colorectal cancer. Here, we report a case of successful relief of malignant stomal obstruction using a metal stent. A 56-year-old man underwent loop ileostomy and was given palliative chemotherapy for ascending colon cancer with peritoneal carcinomatosis. Eight months after the surgery, he complained of abdominal pain and decreased fecal output. Computed tomography and endoscopy revealed malignant stomal obstruction. Due to his poor clinical condition, we inserted the stent at the stomal orifice, instead of additional surgery, and his obstructive symptoms were successfully relieved. Stent insertion is thought to be a good alternative treatment for malignant stomal obstruction, instead of surgery.
Abdominal Pain ; Carcinoma ; Colon ; Colon, Ascending ; Colonic Neoplasms ; Colorectal Neoplasms ; Endoscopy ; Humans ; Ileostomy ; Middle Aged ; Palliative Care ; Stents

Unclassified type occupies about 5 to 10 percent of all ovarian sex cord stromal tumors. Diagnosis is very difficult and subjective because tumors show insufficient differentiation to ovarian or testicular line or display insufficient findings to diagnose as a gynandroblastoma in spite of divergent differentiation. To our knowledge sixty-two cases have been reported in the pathology literatures as yet. The behavior of this group of tumors has not been adequately studied but is similar to granulose cell tumors or Sertoli-Leydig cell tumors. We present a case of unclassified sex cord-stromal tumor which has been experienced in our hospital with brief review of the literature.
Diagnosis ; Female ; Ovary ; Pathology ; Sertoli-Leydig Cell Tumor ; Sex Cord-Gonadal Stromal Tumors*

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

BACKGROUND: The development of bronchoscopic equipment along with the precision of radiographic techniques had reduced the mortality rate of patients with tracheobronchial foreign bodies but has been no change in the incidence of tracheobronchial foreign bodies since their introduction. The aim of this study was to assess the clinical characteristics of a tracheobronchial foreign body aspiration and to evaluate the efficacy of the treatment modality in children and adults. METHODS: This is a retrospective review of 64 patients who underwent bronchoscopic procedures for the treatment of aspirated foreign bodies from December 1994 through March 2004 at the Chonnam national university hospital. RESULTS: There were 47 males and 17 females, aged from 1 month to 78 years. Most of the patients had no underlying illness except for one patient with a cerebrovascular accident that contributed to the foreign body aspiration. The most common symptom was cough, which was noted in 54 patients (84.3%). The other presenting symptoms were dyspnea (48.8%), fever (20.3%), sputum (14%), vomiting (7.8%), and chest pain (4.6%). Those whose tracheobronchial foreign bodies were diagnosed more than 2 days after the aspiration (21 patients) were more likely to have pneumonia than those whose foreign bodies were diagnosed within 2 days (p=0.009). Foreign bodies were visualized in the plain chest radiographs in 12 cases (18.8%), while others showed air trapping (21, 32.8%), pneumonia (15, 23.4%), atelectasis (7, 10.9%), and normal findings (9, 14.1%). The foreign bodies were more frequently found in the right bronchial tree (36) compared with the left bronchial tree (22, p=0.04). In order to remove the foreign bodies, twenty (31.2%) cases were removed using flexible bronchoscopy, while 42 (65.6%) and 2 (3.2%) cases required rigid bronchoscopy and surgery, respectively. CONCLUSIONS: Tracheobronchial Foreign body aspiration had a bimodal age distribution in the infancy and old age around 60 years. They were found more frequently in the right bronchial tree. In addition, patients whose foreign bodies were diagnosed more than 2 days after the aspiration were more likely have a infection. Rigid bronchoscopy is the procedure of choice for uncooperative children and for those with foreign bodies lodged deeply in the small bronchial tree.
Adult ; Age Distribution ; Bronchoscopy ; Chest Pain ; Child ; Cough ; Dyspnea ; Female ; Fever ; Foreign Bodies* ; Humans ; Incidence ; Jeollanam-do ; Male ; Mortality ; Pneumonia ; Pulmonary Atelectasis ; Radiography, Thoracic ; Retrospective Studies* ; Sputum ; Stroke ; Vomiting