OBJECTIVE: Restless legs syndrome (RLS) is a highly heritable and common neurological sensorimotor disease disturbing sleep. The objective of study was to investigate significant gene for RLS by performing GWA and replication study in a Korean population. METHODS: We performed a GWA study for RLS symptom group (n=325) and non-RLS group (n=2,603) from the Korea Genome Epidemiology Study. We subsequently performed a replication study in RLS and normal controls (227 RLS and 229 controls) to confirm the present GWA study findings as well as previous GWA study results. RESULTS: In the initial GWA study of RLS, we observed an association of rs11645604 (OR=1.531, p=1.18×10−6) in MPHOSPH6 on chromosome 16q23.3, rs1918752 (OR=0.6582, p=1.93×10−6) and rs9390170 (OR=0.6778, p=7.67×10−6) in UTRN on chromosome 6q24. From the replication samples, we found rs9390170 in UTRN (p=0.036) and rs3923809 and rs9296249 in BTBD9 (p=0.045, p=0.046, respectively) were significantly associated with RLS. Moreover, we found the haplotype polymorphisms of rs9357271, rs3923809, and rs9296249 (overall p=5.69×10−18) in BTBD9 was associated with RLS. CONCLUSION: From our sequential GWA and replication study, we could hypothesize rs9390170 polymorphism in UTRN is a novel genetic marker for susceptibility to RLS. Regarding with utrophin, which is encoded by UTRN, is preferentially expressed in the neuromuscular synapse and myotendinous junctions, we speculate that utrophin is involved in RLS, particularly related to the neuromuscular aspects.
Epidemiology ; Genetic Markers ; Genome ; Genome-Wide Association Study* ; Haplotypes ; Korea ; Restless Legs Syndrome* ; Synapses ; Utrophin

PURPOSE: Kabuki syndrome is a multiple congenital malformation syndrome, with characteristic facial features, mental retardation, and skeletal and congenital heart anomalies. However, the cardiac anomalies are not well described in the Korean population. We analyzed the cardiac anomalies and clinical features of Kabuki syndrome in a single tertiary center. METHODS: A retrospective analysis was conducted for a total of 13 patients with Kabuki syndrome. RESULTS: The median age at diagnosis of was 5.9 years (range, 9 days to 11 years and 8 months). All patients showed the characteristic facial dysmorphisms and congenital anomalies in multiple organs, and the diagnosis was delayed by 5.9 years (range, 9 days to 11 years and 5 months) after the first visit. Noncardiac anomalies were found in 84% of patients, and congenital heart diseases were found in 9 patients (69%). All 9 patients exhibited left-side heart anomalies, including hypoplastic left heart syndrome in 3, coarctation of the aorta in 4, aortic valve stenosis in 1, and mitral valve stenosis in 1. None had right-side heart disease or isolated septal defects. Genetic testing in 10 patients revealed 9 novel MLL2 mutations. All 11 patients who were available for follow-up exhibited developmental delays during the median 4 years (range, 9 days to 11 years 11 months) of follow-up. The leading cause of death was hypoplastic left heart syndrome. CONCLUSION: Pediatric cardiologist should recognize Kabuki syndrome and the high prevalence of left heart anomalies with Kabuki syndrome. Genetic testing can be helpful for early diagnosis and counseling.
Abnormalities, Multiple ; Aortic Coarctation ; Aortic Valve Stenosis ; Cause of Death ; Counseling ; Diagnosis ; Early Diagnosis ; Follow-Up Studies ; Genetic Testing ; Heart Defects, Congenital ; Heart Diseases ; Heart* ; Humans ; Hypoplastic Left Heart Syndrome ; Intellectual Disability ; Mitral Valve Stenosis ; Prevalence ; Retrospective Studies

BACKGROUND: Maintenance of adequate vascular access for hemodialysis is important in patients with end-stage renal disease. Once arteriovenous fistula (AVF) occlusion occurs, the patient should be treated with rescue therapy. This study was performed to evaluate the results of a rescue therapy for AVF occlusion. METHODS: From January 2008 to December 2012, 47 patients who underwent surgical rescue therapy for AVF occlusion after graft AVF formation, were enrolled in this study. The patients were divided into two groups, namely the graft repair group (group A, n=19) and the thrombectomy group (group B, n=28). Postoperative results of both groups were analyzed retrospectively. RESULTS: There were no statistically significant differences in the clinical characteristics between the two groups. In terms of the duration of AVF patency after the first rescue therapy, group A showed a longer AVF patency duration than group B (24.5+/-21.9 months versus 17.7+/-13.6 months), but there was no statistically significant difference (p=0.310). In terms of the annual frequency of AVF occlusion after the rescue therapy of group A was lower than that of group B (0.59 versus 0.71), but there was no statistically significant difference (p=0.540). The AVF patency rates at 1, 2, 3, and 5 years after the first rescue therapy in group A were 52.6%, 31.5%, 21.0%, and 15.7%, respectively, and those in group B, they were 32.1%, 25.0%, 17.8%, and 7.14%, respectively. There was no statistically significant difference (p=0.402). CONCLUSION: Graft repair revealed comparable results. Although there was no statistically significant difference, the patent duration and annual frequency of AVF occlusion of group A were better than those of group B. Therefore, graft repair is considered as a safe and useful procedure for maintaining graft AVF.
Arteriovenous Fistula* ; Humans ; Kidney Failure, Chronic ; Psychotherapy, Group ; Renal Dialysis* ; Retrospective Studies ; Thrombectomy ; Transplants*

This study was performed to evaluate whether increasing hemoglobin before ascent by prophylactic erythropoietin injections prevents acute mountain sickness (AMS). This open-label, randomized, controlled trial involved 39 healthy volunteers with hemoglobin < or =15.5 g/dL who were divided randomly into erythropoietin (n=20) and control (n=19) groups. Epoetin alpha 10,000 IU injections were given weekly for four consecutive weeks. On day 1, and 7 days after the last injection (day 29), oxygen saturation (SaO2), and hemoglobin were measured. The subjects departed Seoul on day 30 and arrived at Annapurna base camp (ABC, 4,130 m) on day 34. AMS was diagnosed when headache and Lake Louise score (LLS) of > or =3 were present. Immediate descent criteria followed US Army recommendations. Two groups differ in hemoglobin levels on day 29 (15.4+/-1.1 vs 14.2+/-1.0 g/dL, P=0.001). At ABC, erythropoietin group had a significantly lower mean LLS, AMS incidence, and number of subjects who met immediate descent criteria. Multiple logistic regression analysis showed that SaO2<87% and control group, but not hemoglobin<15.0 g/dL, independently predicted satisfaction of immediate descent criteria. Erythropoietin-related adverse effects were not observed. In conclusion, erythropoietin may be an effective prophylaxis for AMS.(Clinical Trial Registry Number; NCT 01665781).
Acute Disease ; Adult ; Altitude Sickness/diagnosis/epidemiology/*prevention & control ; Blood Pressure/physiology ; Drug Administration Schedule ; Erythropoietin/*therapeutic use ; Female ; Headache/physiopathology ; Hemoglobins/analysis ; Humans ; Incidence ; Logistic Models ; Male ; Middle Aged ; Odds Ratio ; Oxygen/blood ; Questionnaires ; Recombinant Proteins/therapeutic use

OBJECTIVE: To compare the treatment effects of epidural neuroplasty (NP) and transforaminal epidural steroid injection (TFESI) for the radiating pain caused by herniated lumbar disc. METHODS: Thirty-two patients diagnosed with herniated lumbar disc through magnetic resonance imaging or computed tomography were included in this study. Fourteen patients received an epidural NP and eighteen patients had a TFESI. The visual analogue scale (VAS) and functional rating index (FRI) were measured before the treatment, and at 2 weeks, 4 weeks and 8 weeks after the treatment. RESULTS: In the epidural NP group, the mean values of the VAS before the treatment, and at 2 weeks, 4 weeks and 8 weeks after the treatment were 7.00+/-1.52, 4.29+/-1.20, 2.64+/-0.93, 1.43+/-0.51 and those of FRI were 23.57+/-3.84, 16.50+/-3.48, 11.43+/-2.44, 7.00+/-2.15. In the TFESI group, the mean values of the VAS before the treatment, and at 2 weeks, 4 weeks and 8 weeks after the treatment were 7.22+/-2.05, 4.28+/-1.67, 2.56+/-1.04, 1.33+/-0.49 and those of FRI were 22.00+/-6.64, 16.22+/-5.07, 11.56+/-4.18, 8.06+/-1.89. During the follow-up period, the values of VAS and FRI within each group were significantly reduced (p<0.05) after the treatment. But there were no significant differences between the two groups statistically. CONCLUSION: Epidural NP and TFESI are equally effective treatments for the reduction of radiating pain and for improvement of function in patients with a herniated lumbar disc. We recommend that TFESI should be primarily applied to patients who need interventional spine treatment, because it is easier and more cost-effective than epidural NP.
Follow-Up Studies ; Humans ; Magnetic Resonance Imaging ; Spine

BACKGROUND: E-cadherin, cortactin, and matrix metalloproteinase (MMP)-9 have roles in tumor development or progression, but their expression has not been fully investigated in pseudoepitheliomatous hyperplasia (PEH) and squamous cell carcinoma (SCC) of the head and neck. METHODS: We evaluated the immunohistochemical expression of E-cadherin, cortactin, and MMP-9 in 29 cases of PEH and 97 cases of SCC. Additionally, we evaluated their relationship with clinicopathologic factors and prognostic implications in SCC. RESULTS: Thirty-five cases of SCC showed reduced expression of E-cadherin, whereas none of the PEH did. A total of 20 cases and 11 cases of SCC were immunoreactive for cortactin and MMP-9, respectively, whereas none of the PEH did. In SCC, reduced expression of E-cadherin was correlated with cortactin expression and invasion depth. Cortactin expression was correlated with differentiation, T classification, and recurrence and/or metastasis. MMP-9 expression was correlated with invasion depth. Cortactin expression was correlated with poor overall survival and relapse-free survival and it was an independent prognostic factor. CONCLUSIONS: The reduced expression of E-cadherin and the expression of cortactin may be helpful for the differential diagnosis of PEH and SCC. Furthermore, cortactin expression in association with reduced E-cadherin expression is correlated with poor prognosis in SCC.
Cadherins ; Carcinoma, Squamous Cell ; Cortactin ; Diagnosis, Differential ; Head ; Head and Neck Neoplasms ; Hyperplasia ; Matrix Metalloproteinase 9 ; Neoplasm Metastasis ; Prognosis ; Recurrence

OBJECTIVE: To evaluate the effectiveness of initial extracorporeal shock wave therapy (ESWT) for patients newly diagnosed with lateral or medial epicondylitis, compared to local steroid injection. METHOD: An analysis was conducted of twenty-two patients who were newly confirmed as lateral or medial epicondylitis through medical history and physical examination. The ESWT group (n=12) was treated once a week for 3 weeks using low energy (0.06-0.12 mJ/mm2, 2,000 shocks), while the local steroid injection group (n=10) was treated once with triamcinolone 10 mg mixed with 1% lidocaine solution. Nirschl score and 100 point score were assessed before and after the treatments of 1st, 2nd, 4th and 8th week. And Roles and Maudsley score was assessed one and eight weeks after the treatments. RESULTS: Both groups showed significant improvement in Nirschl score and 100 point score during the entire period. The local steroid injection group improved more in Nirschl score at the first week and in 100 point score at the first 2 weeks, compared to those of the ESWT group. But the proportion of excellent and good grades of Roles and Maudsley score in the ESWT group increased more than that of local steroid injection group by the final 8th week. CONCLUSION: The ESWT group improved as much as the local steroid injection group as treatment for medial and lateral epicondylitis. Therefore, ESWT can be a useful treatment option in patients for whom local steroid injection is difficult.
Humans ; Lidocaine ; Physical Examination ; Shock ; Triamcinolone

PURPOSE: To evaluate the changes in corneal keratometry (K) readings after corneal collagen cross- linking (CXL) using 20% alcohol in primary keratoconus and keratectasia after refractive surgery. METHODS: Twelve eyes of 10 patients with primary keratoconus and 3 eyes of 3 patients with keratectasia after refractive surgery were included in the present study. Best-corrected visual acuity (BCVA) and mean K, corneal astigmatism by corneal topography, and mean K, corneal astigmatism, and spherical equivalent (SE) by auto refractometer were evaluated at baseline, and 6 months postoperatively. Eight eyes of 7 patients were also evaluated 1 year postoperatively. RESULTS: Mean BCVA improved from log MAR 0.66 +/- 0.50 to log MAR 0.55 +/- 0.58 (p = 0.100) at 6 month after CXL. In corneal topography, mean K significantly decreased from 50.04 +/- 5.88 D to 49.18 +/- 6.15 D (p = 0.019), and corneal astigmatism slightly decreased from 5.33 +/- 4.47 D to 5.29 +/- 4.88 D (p = 0.755) at 6 months after CXL. According to the auto refractometer, mean K significantly decreased from 48.53 +/- 5.94 D to 47.95 +/- 5.79 D (p = 0.038), corneal astigmatism significantly decreased from 3.95 +/- 2.54 D to 3.52 +/- 2.40 D (p = 0.010), and SE significantly decreased from -6.25 +/- 3.45 D to -5.40 +/- 2.91 D (p = 0.037) at 6 months after CXL. Significant mean K and corneal astigmatism decreases in topography were also observed at 1 year after CXL. Complications related to CXL were not observed. CONCLUSIONS: CXL using 20% alcohol appears to be a safe and promising treatment modality with less corneal stromal damage in progressive primary keratoconus and keratectasia after refractive surgery.
Astigmatism ; Collagen ; Corneal Topography ; Eye ; Humans ; Keratoconus ; Reading ; Refractive Surgical Procedures ; Visual Acuity

BACKGROUNDS/AIMS: Complete elimination of intrahepatic duct (IHD) stones is difficult and IHD stone disease is frequently associated with various complications, recurrence and sometimes cholangiocarcinoma. Therefore, we analyzed the long-term surgical results and evaluated the management currently considered appropriate. METHODS: Overall 110 patients who had been diagnosed with benign IHD stone disease and who underwent surgical treatment were enrolled in this study. The patients were categorized into three groups according to the type of surgery performed; liver resection (LR) group, intrahepatic duct exploration (IHDE) group and hepaticoenterostomy (HE) group. We compared and analyzed the results of these three groups. RESULTS: The number of cases in the LR group, IHDE group and HE group were 77, 25 and 8 respectively. The LR group required a longer operation time (p=0.000), more frequent transfusion (p=0.028) and had higher morbidity (p=0.049). However, the LR group had a higher clearance rate (90.9%) (p=0.000) than the other groups. In addition, there were a total of 22 cases of IHD stone recurrence during the follow-up, but there was no statistically significant difference among the three groups. The location of IHD stones was related to a risk factor for incomplete stone removal, but not for recurrence. CONCLUSION: The fundamental principle for the treatment of IHD stone disease should be liver resection. However, it can lead to a longer operative time and higher rate of complications than the other procedures. There is also no difference in the IHD stone recurrence rate among the procedures. Therefore, these alternative and minor procedures could also be taken into account for patients with poor preoperative condition.
Cholangiocarcinoma ; Follow-Up Studies ; Humans ; Liver ; Operative Time ; Recurrence ; Risk Factors

BACKGROUND: It has recently become most general to use the small bore catheter to perform closed thoracostomy in treating iatrogenic pneumothorax. This study was performed for analysis of the efficacy of treatment methods by using small bore catheter such as 7 F (French) central venous catheter, 10 F trocar catheter, 12 F pigtail catheter and for analysis of the appropriateness of each procedure. MATERIALS AND METHODS: From March 2007 to February 2010, Retrospective review of 105 patients with iatrogenic pneumothorax, who underwent closed thoracostomy by using small bore catheter, was performed. We analyzed the total success rate for all procedures as well as the individual success rate for each procedure, and analyzed the cause of failure, additional treatment method for failure, influential factors of treatment outcome, and complications. RESULTS: The most common causes of iatrogenic pneumothorax were presented as percutaneous needle aspiration(PCNA) in 48 cases (45.7%), and central venous catheterization in 26 cases (24.8%). The mean interval to thoracostomy after the procedure was measured as 5.2 hours (1~34 hours). Total success rate of thoracostomy was 78.1%. The success rate was not significantly difference by tube type, with 7 F central venous catheter as 80%, 10 F trocar catheter as 81.6%, and 12 F pigtail catheter as 71%. Twenty one out of 23 patients that had failed with small bore catheter treatment added large bore conventional thoracostomy, and another 2 patients received surgery. The causes for treatment failure were presented as continuous air leakage in 12 cases (52.2%) and tube malfunction in 7 cases (30%). The causes for failure did not present significant differences by tube type. Statistically significant factors affecting treatment performance were not discovered. CONCLUSION: Closed thoracostomy with small bore catheter proved to be effective for iatrogenic pneumothorax. The success rate was not difference for each type. However, it is important to select the appropriate catheter by considering the patient status, pneumothorax aspect, and medical personnel in the cardiothoracic surgery department of the relevant hospital.
Catheterization, Central Venous ; Catheters ; Catheters, Indwelling ; Central Venous Catheters ; Humans ; Iatrogenic Disease ; Needles ; Pneumothorax ; Retrospective Studies ; Surgical Instruments ; Thoracostomy ; Treatment Failure ; Treatment Outcome