Clinical and Genetic Analysis of Korean Patients with Miyoshi Myopathy: Identification of Three Novel Mutations in the DYSF Gene

Miyoshi myopathy (MM) is an autosomal recessive distal muscular dystrophy caused by mutations in the dysferlin gene (DYSF) on chromosome 2p13. Although MM patients and their mutations in the DYSF gene have been found from all over the world, there is only one report of genetically confirmed case of MM in Korea. Recently, we encountered three unrelated Korean patients with MM and two of them have previously been considered as having a type of inflammatory myopathy. The clinical and laboratory evaluation showed typical features of muscle involvement in MM in all patients but one patient initially had moderate proximal muscle involvement and another showed incomplete quadriparesis with rapid progression. Direct sequencing analysis of the DYSF gene revealed that each patient had compound heterozygous mutations (Gln832X and Trp992Arg, Gln832X and Trp999Cys, and Lys1103X and Ile1401HisfsX8, respectively) among which three were novel. Although MM has been thought to be quite rare in Korea, it should be considered in a differential diagnosis of patients exhibiting distal myopathy

Prevalence and Risk Factor of Erosive Esophagitis Observed in Korean National Cancer Screening Program

Prevalence of erosive esophagitis (EE) has been increasing in Korea. The purpose of this study was to estimate prevalence of EE among low socioeconomic population in Korea and to investigate risk factors for EE. We reviewed the medical records of 7,278 subjects who were examined by upper endoscopy in the Korean National Cancer Screening Program at Chung-Ang University Yong-san Hospital from March 2003 to March 2008. The study population included subjects ≥ 40 yr of age who were Medicaid recipients and beneficiaries in the National Health Insurance Corporation. Multivariate analysis was used to determine risk factors for EE. Prevalence of EE was 6.7% (486/7,278). According to the LA classification system, LA-A in 344 subjects, LA-B in 135 subjects, and LA-C and D in 7 subjects. In multivariate analysis, age ≥ 60 yr, male sex, BMI ≥ 25, current smoking, alcohol consumption, fasting glucose level ≥ 126 mg/dL, and endoscopic hiatal hernia were significant risk factors for EE. The prevalence of EE in low socioeconomic Korean population is similar to that in personal annual medical check-ups. Risk factors for EE among them include old age, male sex, BMI ≥ 25, current smoking, alcohol consumption, fasting glucose level ≥ 126 mg/dL, and hiatal hernia

Improved Gastrointestinal Symptoms and Quality of Life after Conversion from Mycophenolate Mofetil to Enteric-Coated Mycophenolate Sodium in Renal Transplant Patients Receiving Tacrolimus

It is reported that a conversion from mycophenolate mofetil (MMF) to enteric-coated mycophenolate sodium (EC-MPS) relieves gastrointestinal (GI) symptom burden and improves health-related quality of life (HRQoL). However, it is unclear whether renal transplant recipients using tacrolimus receive the same benefit from the conversion. In this prospective, multi-center, open-label trial, patients were categorized into two groups by their GI symptom screening. Equimolar EC-MPS (n=175) was prescribed for patients with GI burdens; those with no complaints remained on MMF (n=83). Gastrointestinal Symptom Rating Scale (GSRS) and Gastrointestinal Quality of Life Index (GIQLI) were evaluated at baseline and after one month. Patients and physicians completed Overall Treatment Effect (OTE) at one month. EC-MPS-converted patients had worse GSRS and GIQLI scores at baseline than MMF-continued patients (all P<0.001). Significant improvements in GSRS and GIQLI scores were observed for EC-MPS-converted patients at one month, but MMF-continued patients showed worsened GSRS scores (all P<0.05). OTE scale indicated that EC-MPS patients improved in overall GI symptoms and HRQoL more than MMF patients did (P<0.001). In tacrolimus-treated renal transplant recipients with GI burdens, a conversion from MMF to EC-MPS improves GI-related symptoms and HRQoL

Evaluation of carbazole degradation by Pseudomonas rhodesiae strain KK1 isolated from soil contaminated with coal tar

In this study, strain KK1 isolated from coal tar-contaminated soil was found to be able to mineralize carbazole as a sole source of carbon by radiorespirometric analysis. KK1 cells pregrown on phenanthrene were able to mineralize carbazole much more rapidly than cells pregrown on naphthalene, suggesting a possible close linkage between the pathways for carbazole and phenanthrene catabolism. Also, Rieske-type iron sulfur center sequence of dioxygenase from KK1 was analyzed to evaluate carbazole catabolism by KK1. A gene cloned out from KK1 using a universal dioxygenase primer set was found a dioxygenase for initial catabolism of carbazole based on deduced amino acid sequences. Northern hybridization using the putative carbazole dixoygenase gene fragment as a probe provided the information that catabolism of carbazole might be greatly activated in phenanthrene-grown cells. Analysis of PLFAs extracted from KK1 cells exposed to carbazole revealed that lipids 10 : 0 3OH, 17 : 0 cyclo, and 18 : 0 were representatives produced or significantly increased in response to carbazole. Strain KK1 was identified as Pseudomonas species with 94% confidence when BIOLOG system was applied, as Pseudomonas sp. with over 90% confidence by total cellular compositions of fatty acid, and as Pseudomonas rhodesiae with 99% confidence by 16S rRNA sequence. Accordingly, strain KK1 was identified as Pseudomonas rhodesiae based on combination of the data, and designated Pseudomonas rhodesiae KK1. The phylogenetic tree based on 16S rRNA suggested that strain KK1 was far away in the phylogenetic distance from the strains that can degrade carbazole. The global pollution of soils, rivers, lakes, marshes, etc by polycyclic aromatic hydrocarons (PAHs) such as anthracene, chrysene, fluorene, naphthalene, phenanthrene, and pyrene has been of great concern to environmental microbiologists, because PAHs are considered serious pollutants that are hard to be degraded in the environment. However, little attention has been paid to carbazole that is a nitrogen heterocyclic aromatic compound, despite its toxicity Microorganisms play a primary role in the removal of many types of chemical pollutants including carbazole from the environment. Studies on biodegradation of carbazole by microorganisms such as Pseudomonas, Ralstonia, and Sphingomonas revealed the metabolic pathway for initial carbazole methabolism as shown i

STOICHIOMETRY OF PALLADIUM-CATALYZED N,N'-DIPHENYLUREA SYNTHESIS FROM NITROBENZENE, ANILINE AND CARBON-MONOXIDE

By using deuterated nitrobenzene as a reactant, it was found that Pd-catalyzed synthesis of N,N'-diphenylurea from nitrobenzene, aniline and CO proceeded via two parallel routes: (i) PhNO2+PhNH2+3CO-->PhNHCONHPh+2CO2, and (ii) PhNO2+5PhNH2+3CO -->3PhNHCONHPh+2H2O. The relative importance of these two routes depended strongly on the ratio of aniline to nitrobenzene initially fed to the reactor. Mechanisms are proposed that account for these reaction stoichiometriesclose25