Clinical and Genetic Features of Korean Inherited Arrhythmia Probands

Background and Objectives@#Inherited arrhythmia (IA) is a more common cause of sudden cardiac death in Asian population, but little is known about the genetic background of Asian IA probands. We aimed to investigate the clinical characteristics and analyze the genetic underpinnings of IA in a Korean cohort. @*Methods@#This study was conducted in a multicenter cohort of the Korean IA Registry from 2014 to 2017. Genetic testing was performed using a next-generation sequencing panel including 174 causative genes of cardiovascular disease. @*Results@#Among the 265 IA probands, idiopathic ventricular fibrillation (IVF) and Brugada Syndrome (BrS) was the most prevalent diseases (96 and 95 cases respectively), followed by long QT syndrome (LQTS, n=54). Two-hundred-sixteen probands underwent genetic testing, and 69 probands (31.9%) were detected with genetic variant, with yield of pathogenic or likely pathogenic variant as 6.4%. Left ventricular ejection fraction was significantly lower in genotype positive probands (54.7±11.3 vs. 59.3±9.2%, p=0.005). IVF probands showed highest yield of positive genotype (54.0%), followed by LQTS (23.8%), and BrS (19.5%). @*Conclusions@#There were significant differences in clinical characteristics and genetic yields among BrS, LQTS, and IVF. Genetic testing did not provide better yield for BrS and LQTS. On the other hand, in IVF, genetic testing using multiple gene panel might enable the molecular diagnosis of concealed genotype, which may alter future clinical diagnosis and management strategies.

Desmoplastic melanoma of the oral cavity: diagnostic pitfalls and clinical characteristics

OBJECTIVES: Desmoplastic melanoma of the oral cavity is an extremely rare condition that is often confused on initial diagnosis with non-melanotic benign lesion or spindle cell tumors. The purpose of this article was to raise awareness of the disease using a literature review. MATERIALS AND METHODS: We analyzed 19 desmoplastic melanoma cases reported in the literature and added our experience. Data on clinical, histopathology, treatment, and survival were retrieved and analyzed. Survival analysis was by the Kaplan-Meier method. RESULTS: Initial clinical and histopathological features were indistinctive, and a definite diagnosis of desmoplastic melanoma at initial assessment was possible in only 23.5% of cases. Among tests, immunohistochemical studies for S-100 and vimentin were all positive. The 5-year disease-free survival rate for oral desmoplastic melanoma was 0%, and the 5-year overall survival rate was 55.0%. CONCLUSION: Oral desmoplastic melanoma has a high percentage of initial misdiagnosis and propensity for local recurrence. Thus, careful initial diagnosis and adequate surgery may result in improved overall survival.

Analysis of morbidity, mortality, and risk factors of tracheostomy-related complications in patients with oral and maxillofacial cancer / 대한악안면성형재건외과학회지

BACKGROUND: This study aimed to analyze and describe the morbidity and mortality associated with tracheostomy in patients with oral cancer and to identify the risk factors associated with tracheostomy complications. METHODS: We performed a retrospective chart review of patients who underwent tracheostomy during a major oral cancer resection between March 2001 and January 2016 at the National Cancer Center, Korea. Overall, we included 51 patients who underwent tracheostomy after oral cancer surgery. We assessed the morbidity and mortality of tracheostomy and determined the risks associated with tracheostomy complications. RESULTS: Twenty-two tracheostomy-related complications occurred in 51 patients. The morbidity and mortality rates were 35.2% (n = 18) and 0% (n = 0), respectively. Tracheostomy-related complications were tracheitis (n = 4), obstructed tracheostomy (n = 9), displaced tracheostomy (n = 5), air leakage (n = 1), stomal dehiscence (n = 1), and decannulation failure (n = 2). Most complications (19/22) occurred during the early postoperative period. Considering the risk factors for tracheostomy complications, the type of tube used was associated with the occurrence of tracheitis (p < 0.05). Additionally, body mass index and smoking status were associated with tube displacement (p < 0.05). However, no risk factors were significantly associated with obstructed tracheostomy. CONCLUSIONS: Patients with risk factors for tracheostomy complications should be carefully observed during the early postoperative period by well-trained medical staff.