Journal of Korean medical science
-
Human prion diseases are fatal neurodegenerative disorders that are characterized by spongiform changes, astrogliosis, and the accumulation of an abnormal prion protein (PrP(Sc)). Approximately 10%-15% of human prion diseases are familial variants that are caused by pathogenic mutations in the prion protein gene (PRNP). Point mutations or the insertions of one or more copies of a 24 bp repeat are associated with familial human prion diseases including familial Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome, and fatal familial insomnia. ⋯ The SNPs of several genes other than PRNP have been showed contradictory results. Case-control studies and genome-wide association studies have also been performed to identify candidate genes correlated with variant and/or sporadic CJD. This review provides a general overview of the genetic mutations and polymorphisms that have been analyzed in association with human prion diseases to date.
-
J. Korean Med. Sci. · May 2014
Multicenter StudyThe clinical characteristics of colonic pseudo-obstruction and the factors associated with medical treatment response: a study based on a multicenter database in Korea.
Colonic pseudo-obstruction (CPO) is defined as marked colonic distension in the absence of mechanical obstruction. We aimed to investigate the clinical characteristics of CPO and the factors associated with the response to medical treatment by using a multicenter database in Korea. CPO was diagnosed as colonic dilatation without mechanical obstruction by using radiologic and/or endoscopic examinations. ⋯ Sixty of 104 patients (58%) showed poor responses to medical treatment and underwent surgery at the mean follow-up of 7.4 months (0.5-61 months). Younger age at the time of diagnosis, abdominal distension as a chief complaint, and greater cecal diameter were independently associated with the poor responses to medical treatment. These may be risk factors for a poor response to medical treatment.
-
J. Korean Med. Sci. · May 2014
Case ReportsThrombolytic therapy complemented by ECMO: successful treatment for a case of massive pulmonary thromboembolism with hemodynamic collapse.
Pulmonary thromboembolism (PTE) is a common clinical condition related to significant mortality. Furthermore, patients with PTE presenting with right heart thrombus show higher mortality due to rapid hemodynamic deterioration. ⋯ ECMO was useful for resuscitation and stabilization of the cardiopulmonary function. In conclusion, thrombolytic therapy complemented by ECMO may be an effective treatment option for acute massive PTE with hemodynamic instability.
-
J. Korean Med. Sci. · May 2014
Blood cadmium concentration of residents living near abandoned metal mines in Korea.
The purpose of this study was to investigate demographic and lifestyle variables and blood cadmium concentrations in residents living near abandoned metal mines in Korea. Blood cadmium concentrations were measured in 15,161 subjects living around abandoned metal mines (exposed group, n = 14,464) and compared with those living in designated control areas (control group, n = 697). A questionnaire was provided to all subjects to determine age, gender, mine working history, times of residence, smoking habits and dietary water type. ⋯ Mean residence time and mine working history in the exposed group were significantly higher than in the control group. Blood cadmium concentrations increased with increasing age, and residence time in both groups, and blood cadmium concentrations were higher in current-smokers than in non-smokers in both groups. This study shows the geometric mean of blood cadmium concentration in abandoned mining areas are higher than in non-mining areas in the general adult Korean population.
-
J. Korean Med. Sci. · May 2014
Association between recent acetaminophen use and asthma: modification by polymorphism at TLR4.
The risk of asthma has been increasing in parallel with use of acetaminophen, which is a potential source of oxidative stress. Toll-like receptor 4 (TLR4) plays a critical role not only in innate immunity, but also in mediating reactive oxygen species induced inflammation. Therefore, we investigated associations between acetaminophen usage and TLR4 polymorphism on asthma and bronchial hyperresponsiveness (BHR). ⋯ Although TLR4 was not an independent risk factor for BHR, individuals with CT+TT genotypes at the TLR4 polymorphism had an increased risk of BHR when combined with acetaminophen usage (aOR, 1.74; 95% CI, 1.03-2.94). In conclusion, acetaminophen usage may be associated with asthma and BHR in genetically susceptible subjects. This effect may be modified by polymorphism at TLR4.