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Pendred syndrome (PS) is an autosomal recessive disorder characterized by congenital bilateral sensorineural hearing loss, goiter, and incomplete iodide organification. Patients with PS also have structural anomalies of the inner ear such as enlarged vestibular aqueducts (EVA) and Mondini's malformation. The goiter, which is a major clinical manifestation of PS, usually develops around adolescence. PS is caused by biallelic mutations of the SLC26A4 gene, while nonsyndromic bilateral EVA is associated with zero or one SLC26A4 mutant allele. We report here a Korean family including a young female with PS who had goiter and progressive, fluctuating sensorineural hearing loss that could be partially recovered by oral steroid treatment. Genetic investigation revealed compound heterozygous mutations for p.R677AfsX11, a novel frameshift mutation, and p.H723R in the SLC26A4 gene. Our findings provide detailed information regarding the distribution of mutant alleles for PS and may serve as a foundation for studies to comprehend the genetic portion of syndromic hearing loss.

Background and Objectives:The Angio-Seal (a St. Jude Medical Co., USA) hemostatic puncture closure device produces direct femoral arterial hemostasis, by anchoring a collagen plug to the anterior vascular wall, through a sheath delivery system. The rapid and effective hemostasis leads to earlier ambulation, minimized hospital stay, patient discomfort and vascular complications. This study was performed to evaluate the efficacy and complications of an Angio-Seal in patients undergoing coronary angiography and angioplasty. Subjects and Methods:A total 228 consecutive patients, admitted to our hospital for percutaneous coronary intervention, between October 2001 and May 2002, were enrolled and randomized into 2 groups. 116 patients were treated with an Angio-Seal and the other 112 with manual compression only (control group). The clinical characteristics, procedure related factors, time to ambulation, times to outpatient discharge and complications were analyzed in each patient. All the clinical and procedure-related factors, leading to oozing and delayed bleeding, were also analyzed in the 113 patients who had a successfully completed Angio-Seal deployment. Results:The times to ambulation (7.96±5.81 hours vs. 23.32±3.35 hours) and times to outpatient discharge (2.00±0.94 days vs. 3.47 ±3.61 days) were significantly shorter in the Angio-Seal compared to the control group (p=0.001 & p=0.001, respectively). There was oozing in 20 patients (17.7%) and delayed bleeding in 6 (5.3%) of the successful AngioSeal deployment group. The occurrence of oozing was significantly higher in the heparin infusion cases (40% vs. 18.3%, p=0.034), and was correlated with a later hematoma formation rate and the size of the hematoma (30% vs. 9.7%, 0.68±1.26 cm vs. 0.17±0.70 cm, p=0.015 & p=0.001, respectively). Delayed bleeding was correlated to the hematoma occurrence rate (50% vs. 11.2%, p=0.006). Conclusion:The Angio-Seal resulted in earlier ambulation and shorten the patients’ hospital stay. Oozing, delayed bleeding, hematomas were noted as complications. Oozing and delayed bleeding were correlated with a high hematoma occurrence rate. Careful inspection of the puncture sites, following an Angio-Seal deployment, should be performed. (Korean Circulation J 2003;33 (7):574-582)

Background:Percutaneous mitral balloon valvuloplasty (PMV) has been proposed as an alternative to surgery for selected patients with symptomatic mitral stenosis. The presence of mild mitral regurgitation (MR) in mitral stenosis is usually not considered as a contraindication for the procedure. But, the results of PMV in the subgroup of patients with concomitant mild MR are unknown. Accordingly, this study evaluates the clinical outcome of a consecutive series of patients with mitral stenosis and mild MR undergoing PMV. Methods:Between August 1992 and December 1996 we attempted to dilate the mitral valves of 43 consecutive patients with symptomatic mitral stenosis. Mean age of the group was 45.9±10.6 years and 37 patients were women. They were divided into two groups according to the presence or absence of mild MR before the procedure. Clinical feature, inital result, complication were compared. Results:1) Age, gender, symptomatic status, and atrial fibrillation were similar in both groups. 2) Patients with MR had more thickened valve (2.50±0.33 vs 1.84±0.55, p=0.048) and subvalvular tissue (2.55±0.73 vs 1.88±0.73, p=0.015), higher echocardiographic score (8.44±1.01 vs 7.08±1.65, p=0.004). 3) Mitral valve area gain on the first day after PMV was smaller in patients with MR (p=0.008). 4) The success rate of PMV, the incidence of severe MR after PMV, and the restenosis rate on 6 month were similar in both groups. Conclusion:Although the PMV in patients with mild MR obtained smaller increments in mitral valve area compared to those without MR, they showed similar immediate and short-term results after PMV. (Korean Circulation J 1999;29(6):596-601)

Background and Objectives:The myocardial protective effect of ischemic preconditioning is well known. However, the mechanism is remains unclear. The purpose of this study is to determine the role of adenosine, protein kinase C, KATP channel and the change of monophasic action potential duration on cardioprotective effect of ischemic preconditioning in cat. Materials and Methods:In this experiment, 66 cats were allocated into 7 groups:control (n=10, ischemic preconditioning (n=10, adenosine pre-treated (n=10, SPT (8-p- sulfophenyl theophylline pre-treated (n=9, polymyxin B pre-treated (n=9, glibenclamide pre-treated (n= 9 and nicorandil pre-treated (n=9 groups. Ischemic preconditioning was performed in ischemic precondi- tioning, SPT pre-treated, polymyxin B pre-treated and glibenclamide pre-treated groups by 3 episodes of 5 minutes ischemia and 10 minutes reperfusion. All animals were subjected to 40 minutes of ischemia and 40 minutes of reperfusion. Monophasic action potential duration at 50% repolarization (MAP50 was measured in the ischemic and non-ischemic area respectively by epicardial probe throughout the experiment. The effect of ischemic preconditioning was determined by infarct size (% area at risk. Results:Ischemic preconditioning, adenosine pre-treatment and nicorandil pre-treatment groups demonstrated a significant reduction in infarct size (26±4%, 25±4% and 34±8% infarction of the risk zone, respectively, p

Typhoid fever is an acute systemic febrile disease caused by Salmonella typhi. The classic picture of the disease consists of prolonged continuous or remitting fever, abdominal pain, diarrhea, rose spots and delirium. Salmonella infection can lead to diffuse organ involvement., including bone, lung, thyroid, kidney, liver, spleen, heart, pericardium, intestine and skin and cause a variety of complications. Pulmonary manifestations occur in only 1 percent of the patients. Mild cough with sticky sputum is the earliest symptom and bronchitis, pneumonia and lung abscess were presented. Recently we experienced a case of typhoid fever complicated by bronchitis, dysplasia in a 37-year-old male physician who was improved with ceftriaxone and ciprofloxacin We report this case with a review of the literature.

Background:The aging of the patient population is one of the most important factors influencing health care delivery. Currently 5% of the Korean population is elderly, defined as older than 65 years of age, with this group projected to increase to 13.1% by the year 2021. Cardiovascular disease is the leading cause of death and of disability in the elderly age group. Among them, coronary heart disease is the most important. Method:Study population composed of 216 patients who were admittied to the hospital with first acute myocardial infarction and they were divided into two groups according to the age(older than 65 years of age vs younger). Clinical features, risk factors of coronary heart disease, in-hospital outcome and complication were compared in elderly patients and others group. Results: 1) The risk factors of coronary heart disease is similar to younger patients but pattern of chest pain is less typical than younger patients. 2) Clinical presentation of elderly patients is similar to younger patients except Killip class on admission.(1.66 vs 1.91, p=0.04) 3) In-hospital mortality of elderly patients in higher than younger patients. In addition to an increased incidence of death, recurrent ischemia, stroke, AV block, ventricular arrythmia, pulmonary edema occured more frequently with advanced age. 4) Especially in the thrombolytic therapy group, in-hospital death, reinfarction and recurrent ischemia is higher than primary PTCA group in elderly patients. Conclusions:Diagnosis of acute chest pain is difficult in elderly patients and in-hospital mortality and morbidity is higher than in younger patients. Thus more accurate diagnosis and discriminative therapeutic modality is needed.