Purpose To investigate the possibility of collagen type VIII a2 (COL8A2) as a potential susceptibility gene for Korean patients with Fuchs' corneal dystrophy (FECD), we performed mutation screening of the COL8A2 gene. Methods A total of 25 FECD patients were screened, including 15 patients from six pedigrees with early onset FECD and an additional 10 unrelated patients, all of Korean ancestry. Seventy-three control individuals without corneal disease were selected from the general population. PCRFSSCP and direct sequencing were used to screen genetic variations in COL8A2. The pathogenic impact of these sequence variants was evaluated through the SIFT and PolyPhen algorithms.Results We have identified a novel heterozygous mutation, Q455V, in exon 2 of COL8A2. All patients of Korean pedigrees with FECD had the Q455V mutation, and two out of nine unrelated cases also had this mutation. But it was not present in unaffected individuals from these pedigrees or from control groups. Two heterozygous missense mutations, R155Q and T502M, were also observed, but, they showed no significant difference between FECD patients and controls. The allele frequencies of A35A and G495G, which were synonymous substitutions, were significantly associated with FECD. Both Q455V and T502M were predicted as deleterious mutations by computational methods using PolyPhen and SIFT. Conclusions Our data constitute the first report of a heterozygous Q455V mutation of the COL8A2 gene in Korean patients with FECD. Q455V may be the causative defect in the development and progression of Korean FECD patients.
Purpose, and Material and Methods: MR findings of 9 surgically proven tubo-ovarian abscesses were analyzed in 8 patients. The images were evaluated for signal intensity characteristics and morphologic appearance of the mass, and presence of secondary changes in adjacent pelvic organs and structures. Results: The signal intensity of the lesions on TI-weighted images was hypointense to the surrounding muscle and myometrium in 5 patients, isointense in 3,and hyperintense in 1. On T2-weighted images the signal intensity was hyperintense (n=6) or heterogeneous (n=3). A thin rim (1-3 mm) with hyperintensity on T1-weighted images was noted in the innermost aspect of the masses. Other findings were ill-defined margin, thickened wall, multiple internal septa, shading and gas collection. "Mesh-like" linear strands were noted in the pelvis in all patients, with involvement of adjacent pelvic organs in 7 and lymphadenopathy in 3. Conclusions: In this limited number of cases MR imaging showed great potential for demonstrating the extent of the disease, characterizing the lesions and making a specific diagnosis.
About two-thirds of newly diagnosed LUTS/BPH patients discontinued medications within 1 year of starting treatment. We found several potential patient and provider factors associated with persistence, which could be exploited to increase continuation of treatment in future clinical settings.
Photodynamic therapy (PDT) is a treatment option for acne patients who fail to respond to conventional therapy. Although potent, we experience side effects such as erythema, exfoliation and dyspigmentation. In attempt to specify treatment and shorten the incubation time, we injected 5-aminolevulinic acid (ALA) to the individual lesion. The results of intralesional injection ILI-PDT and conventional PDT are compared in this study.
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