Résumé
Granular corneal dystrophy, type II (CGD2; Avellino corneal dystrophy) is the most common corneal dystrophy among Koreans, but its pathophysiology is still poorly understood. Many reports showed that even though the causative mutation is the same TGFBI R124H mutation, there are severe and mild phenotypes of the corneal dystrophy. We also observed the phenotype differences in our samples. For this reason, we focused our effort on the identification of unknown genetic factor related to phenotype variation. A total 551 individuals from 59 families were genotyped with SNP chip and used in genome-wide linkage analysis. From single-point linkage analyses, we confirmed the known 5q31 region for TGFBI gene, and selected novel nine candidate loci for CGD2. In simulation analysis, the only 3q26.3 region including neuroligin 1 gene (NLGN1) was supported by empirical statistic significance. To investigate the effect of genetic heterogeneity in linkage analysis, we classified CGD2 families into two subgroups. Although we could not find a significant evidence for correlation between the 3q26.3 region and CGD2 phenotypes, this first genome-wide analysis with CGD2 families in Korea has a very important value for offering insights in genetics of CGD2. In addition, the co-segregating loci with CGD2 including 3q26.3 would be a good target for further study to understand the pathophysiology of CGD2.
Sujets)
Femelle , Humains , Mâle , Molécules d'adhérence cellulaire neuronale/génétique , Chromosomes humains de la paire 3/génétique , Chromosomes humains de la paire 5/génétique , Simulation numérique , Dystrophies héréditaires de la cornée/génétique , Liaison génétique , Locus génétiques , Étude d'association pangénomique , Génotype , Modèles génétiques , Polymorphisme de nucléotide simple , Facteur de croissance transformant bêta-1/génétiqueRésumé
BACKGROUND: Melasma causes considerable cosmetic disfigurement and none of the existing treatment modalities are satisfactory. Recently tranexamic acid has been reported to reduce hyperpigmentation in patients with melasma. OBJECTIVE: The purpose of the study was to evaluate the efficacy and safety of tranexamic acid containing oral medication for the treatment of melasma. METHODS: Forty-five female volunteers who had been diagnosed with melasma were enrolled in the present study. Patients were instructed to take medication for 8 weeks. The melanin index (MI) and erythema index (EI) were measured at baseline, and at 4 and 8 weeks. The melasma area and severity index (MASI) was scored at 0, 4, and 8 weeks. Self-satisfaction and safety evaluations were also performed at each visit. RESULTS: The mean MI measured on the lesional skin was decreased at 4 and 8 weeks compared with baseline (p80% of patients were satisfied with the medication. Adverse effects were minimal and two patients dropped out of the study due to drug-related urticaria and unexpected pregnancy. CONCLUSION: Tranexamic acid-containing oral medication is an effective and safe therapeutic modality for the treatment of melasma.
Sujets)
Femelle , Humains , Cosmétiques , Érythème , Hyperpigmentation , Mélanines , Mélanose , Auto-évaluation (psychologie) , Peau , Acide tranéxamique , UrticaireRésumé
BACKGROUNDS: Gestational diabetes mellitus (GDM) is defined as glucose intolerance with onset or first detection during pregnancy and mostly caused by insulin resistance and beta-cell dysfunction like type 2 diabetes. However, autoimmune or monogenic diabetes can contribute to GDM. Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes characterized by an early age of onset and an autosomal dominant pattern of inheritance. Most MODY cases are attributable to mutations in HNF-1alpha gene, also known as MODY3. We investigated whether mutations in HNF-1alpha gene are present in Korean women with GDM. METHODS: A total of 96 Korean women with GDM who have a family history of DM were screened for mutations in the HNF-1alpha gene. We evaluated the clinical characteristics of GDM women with HNF-1alpha gene mutations. RESULTS: Five of 96 patients (5.2%) were found to have a mutation in HNF-1alpha gene. Four of those (-23C > G, 833G > A (Arg278Gln), 923C > T, IVS5 + 106A > G) were novel and one (-124G > C) in promoter region was reported in previous study. The mean age of GDM women with mutations of HNF-1alpha gene was 34 years. Four women with MODY3 gene mutations required insulin therapy during pregnancy. GDM women with MODY3 gene mutations appeared to be decreased insulin secretion (HOMA-%B) than those without mutations. CONCLUSIONS: We have found the existence of MODY3 as well as novel HNF-1alpha gene mutations in Korean women with GDM.
Sujets)
Femelle , Humains , Grossesse , Âge de début , Diabète de type 2 , Diabète gestationnel , Intolérance au glucose , Facteur nucléaire hépatocytaire HNF-1 alpha , Insuline , Insulinorésistance , Dépistage de masse , Régions promotrices (génétique) , TestamentsRésumé
No abstract available.
Résumé
No abstract available.