The aim of this study was to describe the mutational characteristics in Korean hereditary spherocytosis (HS) patients. Relevant literatures including genetically confirmed cases with well-documented clinical summaries and relevant information were also reviewed to investigate the mutational gene- or domain-specific laboratory and clinical association. Twenty-five HS patients carried one heterozygous mutation of ANK1 (n = 13) or SPTB (n = 12) but not in SPTA1, SLC4A1, or EPB42. Deleterious mutations including frameshift, nonsense, and splice site mutations were identified in 91% (21/23), and non-hotspot mutations were dispersed across multiple exons. Genotype-phenotype correlation was clarified after combined analysis of the cases and the literature review; anemia was most severe in HS patients with mutations on the ANK1 spectrin-binding domain (p < 0.05), and SPTB mutations in HS patients spared the tetramerization domain in which mutations of hereditary elliptocytosis and pyropoikilocytosis are located. Splenectomy (17/75) was more frequent in ANK1 mutant HS (32%) than in HS with SPTB mutation (10%) (p = 0.028). Aplastic crisis occurred in 32.0% of the patients (8/25; 3 ANK1 and 5 SPTB), and parvovirus B19 was detected in 88%. The study clarifies ANK1 or SPTB mutational characteristics in HS Korean patients. The genetic association of laboratory and clinical aspects suggests comprehensive considerations for genetic-based management of HS.

Background/AimsTechniques for endoscopic evaluation of gastrointestinal subepithelial lesions include conventional endoscopy, jumbo biopsy, endoscopic ultrasonogrphy (EUS), EUS-guided fine needle aspiration, and endoscopic submucosal resection. However, these procedures have many limitations, such as low diagnostic yields and high complication rates. We therefore evaluated the diagnostic yield for tissue sampling of incidental subepithelial lesions using the bite-on-bite technique.MethodsOne hundred and forty subepithelial lesions were found in 129 patients during conventional diagnostic esophagogastroduodenoscopy by one examiner from October 2003 to November 2004. Bite-on-bite biopsies with conventional-sized forceps were taken from 36 patients having 37 lesions that did not appear to be hypervascular or to have a thick overlying epithelium. Two to eight bites were performed to obtain submucosal tissue for one lesion.ResultsThe bite-on-bite technique was diagnostic in 14 of the 37 lesions (38%). Blood oozing for more than 30 seconds occurred in five cases, but was easily controlled by epinephrine injection (2 cases) or hemoclip (3 cases). The diagnostic yield tended to be higher in the esophagus than in the stomach and duodenum (54% vs. 28%, p=0.109).ConclusionsThe bite-on-bite technique for subepithelial lesions is an effective and safe method in selected cases. This technique may be useful for incidental subepithelial lesions, especially those of the esophagus, except for ones with a high risk of bleeding or thick overlying epithelium.

Background/Aims:This study examined prevalence and risk factors of periodontitis in representative samples of Korean adults, with and without diabetes mellitus (DM).Methods:Data from the 2012 Korean National Health and Nutritional Examination Survey were analyzed. A total of 4,477 adults (≥ 30 years old) were selected from 8,057 individuals who completed a nutrition survey, a self-reported general health behavior questionnaire, an oral examination, an oral hygiene behaviors survey, and laboratory tests. DM was defined as a fasting plasma glucose ≥ 126 mg/dL, or self-reported diagnosed diabetes, or current use of oral hypoglycemic agents and/or insulin. The community periodontal index was used to assess periodontitis status and comparisons between the periodontitis and the non-periodontitis group, were performed, according to the presence of DM. Risk factors for periodontitis in adults with DM and without DM were evaluated by multiple logistic regression analysis.Results:The prevalence of periodontitis was significantly higher in adults with DM (43.7%) than in those without DM (25%, p < 0.001). In adults without DM, risk factors for periodontitis were older age, male, urban habitation, waist circumference, smoking, oral pain, and less frequent tooth brushing. Significant risk factors for periodontitis in adults with DM were the smoking, oral pain, and not-using an oral hygiene product.Conclusions:Adults with DM have an increased risk of periodontitis than those without DM. Current smoking and oral pain increase this risk. Using an oral hygiene product can reduce risk of periodontal disease in adults with DM.