Heredity of acne in Korean patients

Acne is a chronic inflammatory disease of the pilocebaceous unit that presents with various spectrum and severity. Genetic backgrounds and environmental factors are also considered to be relevant, but few studies have focused on Korean patients. A cross‐sectional epidemiologic study on family history of Korean acne patients was performed to analyze family history of acne, and to compare the severity and characteristics of acne in association with family history. A total of 221 patients were enrolled, 98 male (44.3%) and 123 female (55.7%). Patients were grouped as patients with (A+) or without (A‐) family history of acne. In a second analysis, patients with any experience of acne treatment were evaluated. Severity of acne was measured with Burton's grading system and Korean Acne Grading System (KAGS). Female patients had a higher tendency to have family history than males (P = 0.002). Group A+ had statistically significant earlier onset of acne (P = 0.002). In inexperienced patients, patients with family history showed a relatively earlier onset (P = 0.084). This study confirmed the role of heredity in acne. Family history of acne is associated with earlier onset of the disease, and more non‐inflammatory lesions.     

Involvement of reactive oxygen species in brominated diphenyl ether-47-induced inflammatory cytokine release from human extravillous trophoblasts in vitro

Polybrominated diphenyl ethers (PBDEs) are widely used flame retardant compounds. Brominated diphenyl ether (BDE)-47 is one of the most prevalent PBDE congeners found in human breast milk, serum and placenta. Despite the presence of PBDEs in human placenta, effects of PBDEs on placental cell function are poorly understood. The present study investigated BDE-47-induced reactive oxygen species (ROS) formation and its role in BDE-47-stimulated proinflammatory cytokine release in a first trimester human extravillous trophoblast cell line, HTR-8/SVneo. Exposure of HTR-8/SVneo cells for 4 h to 20 μM BDE-47 increased ROS generation 1.7 fold as measured by the dichlorofluorescein (DCF) assay. Likewise, superoxide anion production increased approximately 5 fold at 10 and 15 μM and 9 fold at 20 μM BDE-47 with a 1-h exposure, as measured by cytochrome c reduction. BDE-47 (10, 15 and 20 μM) decreased the mitochondrial membrane potential by 47–64.5% at 4, 8 and 24 h as assessed with the fluorescent probe Rh123. Treatment with 15 and 20 μM BDE-47 stimulated cellular release and mRNA expression of IL-6 and IL-8 after 12 and 24-h exposures: the greatest increases were a 35-fold increased mRNA expression at 12 h and a 12-fold increased protein concentration at 24 h for IL-6. Antioxidant treatments (deferoxamine mesylate, (±)α-tocopherol, or tempol) suppressed BDE-47-stimulated IL-6 release by 54.1%, 56.3% and 37.7%, respectively, implicating a role for ROS in the regulation of inflammatory pathways in HTR-8/SVneo cells. Solvent (DMSO) controls exhibited statistically significantly decreased responses compared with non-treated controls for IL-6 release and IL-8 mRNA expression, but these responses were not consistent across experiments and times. Nonetheless, it is possible that DMSO (used to dissolve BDE-47) may have attenuated the stimulatory actions of BDE-47 on cytokine responses. Because abnormal activation of proinflammatory responses can disrupt trophoblast functions necessary for placental development and successful pregnancy, further investigation is warranted of the impact of ROS and BDE-47 on trophoblast cytokine responses.     

Novel nonsense GNAS mutation in a 14‐month‐old boy with plate‐like osteoma cutis and medulloblastoma

Plate‐like osteoma cutis (PLOC) is a dermatological disorder characterized by superficial ossification and rarely occurs without any underlying tissue abnormalities or pre‐existing calcification. The hereditary form of PLOC is mainly due to inactivating mutation in the GNAS gene. Inactivating mutation of the GNAS gene is associated with several diseases, which commonly manifest heterotopic ossification and hormonal resistance; however, the development of malignant neoplasm has never been reported. Herein, we report a case of a patient with a novel nonsense mutation in the GNAS gene, who presented with concurrent PLOC and medulloblastoma.     

The reliability of cone-beam computed tomography (CBCT) – Generated frontal cephalograms

BackgroundThe purpose of this study was to evaluate the reliability of measurements from cone-beam computed tomography (CBCT)-generated frontal cephalogram.Materials and methodsCBCT and conventional posteroanterior (PA) cephalograms were taken from 30 adult patients. CBCT image was set according to the Frankfurt-Horizontal (FH) plane as the horizontal plane and the midsagittal reference (MSR) plane. The CBCT frontal cephalograms were generated using the orthogonal Raycast method (group CT_raycast), the orthogonal maximum intensity projection (MIP) method (group CT_MIP) after the head reorientation according to the reference planes, and the generator tool provided by the employed 3-dimensional (3D) imaging software (group CT_generator), respectively. The differences between the CBCT-generated frontal cephalograms and conventional PA cephalograms (group PA_ceph) were compared by paired t-test (p < 0.05).ResultsThe significant differences were shown in two measurements for group CT_raycast, in 12 measurements for group CT_MIP, and in eight measurements for group CT_generator. It was confirmed that the CBCT frontal cephalograms, generated by means of the Raycast method (Group CT_raycast), were more comparable to the conventional PA cephalograms in their measurements than were the others (Groups CT_MIP, CT_generator).ConclusionThis study may well suggest that frontal cephalograms derived by 3D CBCT reorientation can be effectively employed in clinical applications.     

Impact of body mass index on the predictive ability of body fat distribution for Type 2 diabetes risk in Koreans

Aims The optimal anthropometric measure of obesity or body fat distribution that best predicts the risk of Type 2 diabetes in Asians is unclear. Moreover, it has not been determined whether BMI modifies the effect of body fat distribution on diabetes risk in Asians. Methods We analysed the anthropometric and laboratory data of 7658 non‐diabetic Korean adults (5061 men and 2597 women, aged 20–79 years) who underwent routine medical check‐ups at 5‐year intervals. BMI, waist circumference, waist‐to‐height ratio, and bioelectrical impedance (to calculate fat mass and per cent body fat) were measured at baseline. Results Of the 7658 participants, 278 subjects (3.6%) developed diabetes over 5 years. Each of the anthropometric measures of general obesity (BMI, fat mass, per cent body fat) and central body fat distribution (waist circumference and waist‐to‐height ratio) was a good predictor of Type 2 diabetes. However, when the areas under the receiver‐operating characteristic curves were compared, BMI (0.697; 95% CI, 0.669–0.725), waist circumference (0.709, 0.682–0.736) and waist‐to‐height ratio (0.718, 0.692–0.743) were better predictors of diabetes risk than fat mass (0.672, 0.643–0.700) or per cent body fat (0.657, 0.628–0.686). In the low‐ (< 23 kg/m²) and mid‐ (23–27 kg/m²) BMI groups, the addition of waist‐to‐height ratio or waist circumference to BMI could improve the prediction of diabetes risk. Conclusions BMI, waist circumference and waist‐to‐height ratio were good predictors of Type 2 diabetes risk in Koreans. In non‐obese or less obese subjects, measures of central body fat distribution can help improve the prediction of Type 2 diabetes risk when added to measures of general obesity.     

Analysis of hepatitis B virus drug-resistant mutant haplotypes by ultra-deep pyrosequencing

Direct sequencing and reverse hybridization are currently the main methods for detecting drug-resistance mutations of hepatitis B virus (HBV). However, these methods do not enable haplotype analysis so they cannot be used to determine whether the mutations are co-located on the same viral genome. This limits the accurate identification of viral mutants that are resistant to drugs with a high genetic barrier. In our current study, ultra-deep pyrosequencing (UDPS) was used to detect HBV drug-resistance mutations in 25 entecavir-treated and five treatment-naive patients. Of the 25 entecavir-treated patients, 18 had experienced virological breakthrough and two exhibited reduced susceptibility to entecavir. The results obtained by UDPS were compared with those of direct sequencing, and the haplotypes of the drug-resistant HBV mutants were analysed. The average number of reads per patient covering the region in which drug-resistance mutations are located was 1735 (range 451-4526). UDPS detected additional drug-resistance mutations not detected by direct sequencing in 19 patients (mutation frequency range 1.1-23.8%). Entecavir-resistance mutations were found to be co-located on the same viral genome in all 20 patients displaying virological breakthrough or reduced susceptibility to entecavir. In conclusion, UDPS was not only sensitive and accurate in identifying drug-resistance mutations of HBV but also enabled haplotype analysis of the mutants. This method may offer significant advantages in explaining and predicting the responses of patients with HBV to antiviral therapy.