Identification of novel susceptibility genes associated with bone density and osteoporosis in Korean women

Purpose@#Osteoporosis is a common calcium and metabolic skeletal disease which is characterized by decreased bone mass, microarchitectural deterioration of bone tissue and impaired bone strength, thereby leading to enhanced risk of bone fragility.In this study, we aimed to identify novel genes for susceptibility to osteoporosis and/or bone density. @*Materials and Methods@#To identify differentially expressed genes (DEGs) between control and osteoporosis-induced cells, annealing control primer-based differential display reverse-transcription polymerase chain reaction (RT-PCR) was carried out in pre-osteoblast MC3T3-E1 cells. Expression levels of the identified DEGs were evaluated by quantitative RT-PCR. Association studies for the quantitative bone density analysis and osteoporosis case-control analysis of single nucleotide polymorphism (SNPs) were performed in Korean women (3,570 subjects) from the Korean Association REsource (KARE) study cohort. @*Results@#Comparison analysis of expression levels of the identified DEGs by quantitative RT-PCR found seven genes, Anxa6, Col5a1, Col6a2, Eno1, Myof, Nfib, and Scara5, that showed significantly different expression between the dexamethasontreated and untreated MC3T3-E1 cells and between the ovariectomized osteoporosis-induced mice and sham mice. Association studies revealed that there was a significant association between the SNPs in the five genes, ANXA6, COL5A1, ENO1, MYOF, and SCARA5, and bone density and/or osteoporosis. @*Conclusion@#Using a whole-genome comparative expression analysis, gene expression evaluation analysis, and association analysis, we found five genes that were significantly associated with bone density and/or osteoporosis. Notably, the association P-values of the SNPs in the ANXA6 and COL5A1 genes were below the Bonferroni-corrected significance level.

Detection of Autoantibodies for Extractable Nuclear Antigens by LG Immunoblot Kit / 대한임상병리학회지

BACKGROUND: Identification of antibodies recognizing extractable nuclear antigens (ENAs) is use-ful in the diagnosis and characterization of a variety of connective tissue diseases. Recently, LG ENA Immunoblot (LGCI, Seoul, Korea) was introduced for detecting various autoantibodies to ENAs simultaneously. Performance of this kit was evaluated in this study. METHODS: Sera from 108 SLE patients and 103 RA patients were tested for the presence of spe-cific autoantibodies to ENAs by LG ENA Immunoblot and DID. Concordance rates in each autoan-tibody were obtained. After discordant results were resolved by EIA (ENA ELISA TEST SYSTEM, Zeus Scientific Inc., NJ, USA) and western blot (ANA Western Blot Immunoassay, IMMCO Diag-nostics Inc., NY, USA), sensitivity and specificity of LG ENA Immunoblot were evaluated. Between-day precision was also tested. RESULTS: Concordance rates in each autoantibody in two methods were as follows: anti-RNP (88.0%, 95/108; 100%, 103/103), anti-Sm (87.0%, 94/108; 97.1%, 100/103), anti-SSA (94.4%, 102/108; 99.0%, 102/103), anti-SSB (97.2%, 105/108; 98.1%, 101/103), anti-Scl70 (99.1%, 107/108; 100%, 103/103) in SLE and RA patients, respectively. Sensitivity and specificity of Immunoblot were 92.0% and 99.6% for anti-RNP, 100% and 99.6% for anti-Sm, 100% and 98.6% for anti-SSA, 90.0% and 98.5% for anti-SSB, and 100% and 100% for anti-Scl70, respectively. Between-day precisions were 100% in all anti-ENA antibodies. CONCLUSIONS: LG ENA Immunoblot showed good concordance rates with the conventional DID method and high sensitivity (>90%) and specificity (>98.5%) in detecting all kinds of anti-ENA autoantibodies. LG Immunoblot has another merit in that it can detect several autoantibodies simul-taneously. It is suggested that LG ENA Immunoblot can replace DID for anti-ENA detection without any problem.

Anatomic Aspects of Intermittent Exotropia in Childhood

PURPOSE: This study aimed to find out the difference in between the anatomic properties children with intermittent exotropia and children with orthophoria. METHODS: The intermittent exotropia group consisted of 35 patients who had an angle of deviation of more than 15 prisms. The control group consisted of 35 orthophoric children with comparable age and sex ratio. From the view of skull AP, we compared the diameter, interlateral wall distance, and intermedial wall distance of the orbital rim. Also we compared the intercanthal distance, interlateral canthal distance of eyelids, and interpupillary distance. RESULTS: The average values of interpupillary distance, intercanthal distance, and interlateral canthal distance of exotropic group were 54.23+/-1.85 mm, 34.75+/-1.66 mm, and 78.25+/-4.21 mm, respectively. Compared to those of control group, which were 53.59+/-1.21 mm, 33.56+/-1.54 mm, and 76.68+/-3.23 mm, respectively, there was no significant difference (P>0.05). The average values of the diameter, interlateral wall distance and the intermedial wall distance of the orbital rim were not significantly different between two groups (p>0.05). CONCLUSIONS: Our results showed that the anatomic properties including orbital rim size and orbital exodeviation did not seen to influence the development of intermittent exotropia.

A Case of Neovascular Glaucoma in Radiation Retinopathy

PURPOSE: To report a case in which radiotherapy damaged the microvasculatures of the retinal vessels and developed cotton-wool patches and retinal hemorrage as well as rubeosis iridis and intractable neovascular glaucoma. METHODS: A 64-year-old female presented with visual loss in her left eye two years after radiotherapy for malignant melanoma of the nasal cavity. The visual acuity of her left eye was counting fingers. Although any specific signs were not shown in the cornea or lens, multiple cotton-wool patches and retinal hemorrhages were noted around the optic disc. RESULTS: Multiple cotton-wool patches and retinal hemorrhages disappeared gradually. Finally, rubeosis iridis and intractable neovascular glaucoma developed which could not be controlled by panretinal photocoagulation. CONCLUSIONS: Radiotherapy for malignancy of the nasal cavity was associated with intractable neovascular glaucoma.