"It was reported that polymorphism of TNF alpha gene was present in promoter region and involves the substitution of guanine by adenosine in the uncommon (TNFA 2) allele. In this study, we investigated the significance of TNFA gene polymorphism in relation to various clinical characteristics and autoantibody profiles in SLE as well as comparing it with that of other countries, and also studied its association with peripheral TNF-a production in vitro. TNFA genotyping was performed in 126 SLE patients and 300 controls using DNA extracted from peripheral leucocytes. The biallelic polymorphism at position -308 of the TNFA promotor was determined by Ncol- RFLP. Peripheral mononuclear cell production of TNF-a was investigated by bioassay using L-929 cell cytotoxicity. The TNFA ""1 homozygote was a predominant allele (77.0%) in SLE, which was not different from the controls. TNFA ""2 homozygate was extremely rare in both patients and controls (0.8%, 1.3% respectively). The clinical manifestations between TNFA '1 and TNFA""2 did not differ. The production of autoantibodies including dsDNA, anti-La, anti-nRNP and anti-Sm was not different between two alleles, whereas anti- Ro antibody was more frequent in TNFA""1/TNFA '1 than in TNFA'1/TNFA'2 (62.1% vs 38.4%, P=0.022). The polymorphism of TNFA gene did not influence the lipopolysaccharide stimulated peripheral mononuclear cell production of TNF-a (1356+/-293 vs 1119+/-385 pg/ml; TNFA'1/TNFA'1, TNFA'1/TNFA'2 respectively). These results suggested that promoter polymorphism of TNFA was not directly involved in the susceptibility of SLE and was not responsible for differential peripheral TNF-a production, but TNFA ' may be associated with anti-Ro antibody production."
Adenosine ; Alleles ; Autoantibodies ; Biological Assay ; DNA ; Guanine ; Homozygote ; Humans ; Lupus Erythematosus, Systemic* ; Polymorphism, Restriction Fragment Length ; Promoter Regions, Genetic ; Tumor Necrosis Factor-alpha*

Intercellular adhesion molecule-1 (ICAM-1) is expressed on vascular endothelial cells and its expression increases during the inflammatory response in patients with active Behcet's disease (BD). The ICAM1 gene mutations are associated with BD in Caucasians, but clinical features of the mutation phenotype are unknown. We analyzed ICAM1 polymorphisms in Korean BD patients to determine if there was an association between particular mutations and clinical symptoms. The prevalence of ICAM1R241G and ICAM1K469E polymorphisms was determined among 197 patients with BD and 248 healthy controls using BsrG1 and BstU1 PCR-RFLP. The frequency of both genotypes ICAM1469 * K/ * E and ICAM-1469 * E/ * E was significantly higher in BD patients compared with controls (66.0% vs 52.4%, p=0.004, OR=1.28, 95% CI 1.08-1.50) and the allele frequency of ICAM1469 * E was higher in patients with skin lesions (0.41), genital ulcers (0.41), vasculitis (0.43), ocular lesions (0.41) and arthritis (0.39) than in controls (0.31). Only one heterozygote, ICAM1241G/R, was detected in BD patients but the ICAM1241 * R mutation was not found in any of the 248 healthy controls. These results show that the ICAM1 mutation is associated with BD susceptibility, and is another genetic risk factor for BD among the Korean population.
Adult ; Behcet Syndrome/ethnology/*genetics ; Female ; Gene Frequency ; Genetic Predisposition to Disease/epidemiology ; Human ; Intercellular Adhesion Molecule-1/*genetics ; Korea/epidemiology ; Male ; Middle Aged ; Phenotype ; *Polymorphism, Restriction Fragment Length ; Risk Factors

Osseointegration is a result of bone formation and bone regeneration processes, which takes place at the interface between bone and implant, and it indicates a rigid fixation that can be stably maintained while functional loading is applied inside the oral cavity as well as after implant placement. Although many researches were carried out about osseointegration mechanism, but cellular and molecular events have not been clarified. With recent development of molecular biology, some researches have examined biological determinants, such as cytokine, growth factors, bone matrix proteins, during osseointegration between bone and implant surface, other researches attempted to study the ways to increase bone formation by adhering protein to implant surface or by inserting growth factors during implant placement. Cellular research on the reaction of osteoblast especially to surface morphology (e.g. increased roughness) has been carried out and found that the surface roughness of titanium implant affects the growth of osteoblast, cytokine formation and mineralization. While molecular biological research in dental implant is burgeoning. Yet, its results are insignificant . We have been studying the roles of growth factors during osseointegration, comparing different manifestations of growth factors by studying the effect of osseointegration that varied by implant surface. Of many growth factors, TGF-beta, IGF-I, BMP2, and BMP4, which plays a significant role in bone formation, were selected, and examined if these growth factors are manifested during osseointegration. The purpose of this article is to present result of our researches and encourage molecular researches in dental implant.
Bone Matrix ; Bone Regeneration ; Dental Implants ; Hypogonadism ; Insulin-Like Growth Factor I ; Intercellular Signaling Peptides and Proteins ; Mitochondrial Diseases ; Molecular Biology ; Mouth ; Ophthalmoplegia ; Osseointegration ; Osteoblasts ; Osteogenesis ; Proteins ; Titanium ; Transforming Growth Factor beta

Purpose: To determine whether the cornea remodeling-related genes aldehyde dehydrogenase 3A1 (ALDH3A1), lysyl oxidase (LOX), and secreted protein acidic and rich in cysteine (SPARC) were potential susceptibility candidate genes for keratoconus in Korean patients, we investigated the associations of single nucleotide polymorphisms (SNPs) in these three genes in Korean patients with keratoconus.
Methods: Genomic DNA was extracted from blood samples of unrelated patients with keratoconus and healthy control individuals. For screening of genetic variations, all exons from the entire coding regions of the ALDH3A1, LOX, and SPARC genes were directly sequenced to determine the presence of mutations. Control individuals were selected from the general population without keratoconus.
Results: In this study, we detected nine SNPs in ALDH3A1, four SNPs in LOX, and 18 SNPs in SPARC. rs116992290, IVS3-62c>t, rs116962241, and rs2228100 in ALDH3A1 and rs2956540 and rs1800449 in LOX were significantly different between patient and control groups. In the SPARC gene, the distribution of the *G allele of EX10+225 T>G (p = 0.018; odds ratio, 1.869) was strongly associated with the risk of keratoconus in the Korean population. In haplotype analysis, C-G of rs2956540-rs2288393 in LOX(p = 0.046) and C-C-G and G-G-G of rs60610024-rs2228100-rs57555435 (p = 0.021 and p < 0.001), G-A of IVS3-62 a>g - rs116962241 in ALDH3A1(p = 0.048) predisposed significantly to keratoconus. After cross-validation consistency and permutation tests, two locus model was the best SNP variations interaction pattern.
Conclusions Our results suggested that genetic variations in ALDH3A1, LOX, and SPARC genes were associated with a predisposition for keratoconus in Korean individuals. Moreover, variations in ALDH3A1 and LOX may serve as strong biomarkers for keratoconus.

Purpose: To determine whether the cornea remodeling-related genes aldehyde dehydrogenase 3A1 (ALDH3A1), lysyl oxidase (LOX), and secreted protein acidic and rich in cysteine (SPARC) were potential susceptibility candidate genes for keratoconus in Korean patients, we investigated the associations of single nucleotide polymorphisms (SNPs) in these three genes in Korean patients with keratoconus.
Methods: Genomic DNA was extracted from blood samples of unrelated patients with keratoconus and healthy control individuals. For screening of genetic variations, all exons from the entire coding regions of the ALDH3A1, LOX, and SPARC genes were directly sequenced to determine the presence of mutations. Control individuals were selected from the general population without keratoconus.
Results: In this study, we detected nine SNPs in ALDH3A1, four SNPs in LOX, and 18 SNPs in SPARC. rs116992290, IVS3-62c>t, rs116962241, and rs2228100 in ALDH3A1 and rs2956540 and rs1800449 in LOX were significantly different between patient and control groups. In the SPARC gene, the distribution of the *G allele of EX10+225 T>G (p = 0.018; odds ratio, 1.869) was strongly associated with the risk of keratoconus in the Korean population. In haplotype analysis, C-G of rs2956540-rs2288393 in LOX(p = 0.046) and C-C-G and G-G-G of rs60610024-rs2228100-rs57555435 (p = 0.021 and p < 0.001), G-A of IVS3-62 a>g - rs116962241 in ALDH3A1(p = 0.048) predisposed significantly to keratoconus. After cross-validation consistency and permutation tests, two locus model was the best SNP variations interaction pattern.
Conclusions Our results suggested that genetic variations in ALDH3A1, LOX, and SPARC genes were associated with a predisposition for keratoconus in Korean individuals. Moreover, variations in ALDH3A1 and LOX may serve as strong biomarkers for keratoconus.

Giant cell tumor rarely occurs in ribs. Usually it is located in the posterior arc. We reported a very rare case of primary giant cell tumor of rib in the anterior arc with review of literatures.
Giant Cell Tumors* ; Giant Cells* ; Ribs

PURPOSE: To compare intraoperative and postoperative flap complication rate between the Hansatome Excellus and Zyoptix XP microkeratomes for LASIK surgery. METHODS: The intra- and post-operative flap complication rate, in 323 eyes of 167 patients operated on using the Hansatome microkeratome were compared with 260 eyes of 132 patients that were operated on using the Zyoptix XP microkeratome. RESULTS: The Hansatome group showed an intraoperative complication incidence of 2.7% compared to 0.4% for the Zyoptix XP group (p<0.05), but the incidence of postoperative complication was 2.7% in the Zyoptix XP group compared to 0.6% in the Hansatome group (p>0.05). There was no incidence of visually significant complications in either group. CONCLUSIONS: The Zyoptix XP showed a significantly decreased intraoperative flap complication rate compared to the Hansatome Excellus microkeratome. The preoperative K value is an important factor for safe LASIK.
Eye ; Humans ; Incidence ; Intraoperative Complications ; Keratomileusis, Laser In Situ ; Postoperative Complications

Ameloblastomaa are odontogenic benign tumors with epithelial origin, which are characterized by slow, aggressive, and invasive growth. Most ameloblastomas occur in the mandible, and their prevalence in the maxilla is low. A 27-year-old male visited our clinic with a chief complaint of the left side nasal airway obstruction. Three-dimensional computed tomography showed left maxillary sinus filled with a mass. Except for the perforated maxillary left edentulous area, no invaded or destructed bone was noted. The tumor was excised via Le Fort I osteotomy. The main mass was then sent for biopsy and it revealed acanthomatous ameloblastoma. The lesion in the left maxillary sinus reached the ethmoidal sinus through the nasal cavity but did not invade the orbit and skull base. The tumor was accessed through a Le Fort I downfracture in consideration of the growth pattern and range of invasion. The operation site healed without aesthetic appearances and functional impairments. However, further long-term clinical observation is necessary in the future for the recurrence of ameloblastoma. Conservative surgical treatment could be the first choice considering fast recovery after surgery and the patient's life quality.
Adult ; Ameloblastoma ; Biopsy ; Humans ; Male ; Mandible ; Maxilla ; Maxillary Sinus ; Nasal Cavity ; Nasal Obstruction ; Orbit ; Osteotomy ; Prevalence ; Quality of Life ; Recurrence ; Skull Base

PURPOSE: To report the characteristics and genetic epidemiology of keratoconus patients in the Korean population based on questionnaires, ophthalmologic findings, and genetic studies. METHODS: From September 2007 through August 2009, an epidemiologic investigation was performed through questionnaires and ocular examination of 190 keratoconus patients. To investigate the genetic cause, blood samples were taken from the keratoconus patients. Genetic analysis of keratoconus was performed through the analysis of sensitive candidate genes. RESULTS: The mean age of the study subjects was 29.6 years. Seventy-seven percent of the subjects rubbed their eyes with 17 percent suffering from atopy, allergy, and asthma. Thirty-two percent of subjects demonstrated Vogt's striae as the most frequent biomicroscopic keratoconus finding. No family history was found. Genetic analysis showed sensitive genetic variations of VSX1, LUM, and IL1B. CONCLUSIONS: Epidemiology of Korean keratoconus patients was investigated through research and genetic study resulting in discovery of sensitive genes.
Asthma ; Eye ; Genetic Variation ; Humans ; Hypersensitivity ; Keratoconus ; Korea ; Molecular Epidemiology ; Surveys and Questionnaires ; Stress, Psychological

PURPOSE: To describe clinical findings in a Korean family with Axenfeld-Rieger syndrome. METHODS: A retrospective review of clinical data about patients with diagnosed Axenfeld-Rieger syndrome. Five affected members of the family underwent a complete ophthalmologic examination. We screened the forkhead box C1 gene and the pituitary homeobox 2 gene in patients. Peripheral blood leukocytes and buccal mucosal epithelial cells were obtained from seven members of a family with Axenfeld-Rieger syndrome. DNA was extracted and amplified by polymerase chain reaction, followed by direct sequencing. RESULTS: The affected members showed iris hypoplasia, iridocorneal adhesions, posterior embryotoxon, and advanced glaucoma in three generation. None had systemic anomalies. Two mutations including c.1362_1364insCGG and c.1142_1144insGGC were identified in forkhead box C1 in four affected family members. CONCLUSIONS: This study may help to understand clinical findings and prognosis for patients with Axenfeld-Rieger syndrome.
Aged, 80 and over ; Anterior Eye Segment/*abnormalities/metabolism ; DNA/*genetics ; DNA Mutational Analysis ; Eye Abnormalities/diagnosis/*genetics/metabolism ; Female ; Forkhead Transcription Factors/*genetics/metabolism ; Genetic Testing ; Homeodomain Proteins/*genetics/metabolism ; Humans ; Male ; Middle Aged ; *Mutation ; Pedigree ; Retrospective Studies ; Transcription Factors/*genetics/metabolism ; Young Adult