Here we report two unrelated Chinese families with congenital missing teeth inherited in an X-linked manner. We mapped the affected locus to chromosome Xp11-Xq21 in one family. In the defined region, both families were found to have novel missense mutations in the ectodysplasin-A (EDA) gene. The mutation of c.947A>G caused the D316G substitution of the EDA protein. The mutation of c.1013C>T found in the other family resulted in the Thr to Met mutation at position 338 of EDA. The EDA gene has been reported responsible for X-linked hypohidrotic ectodermal dysplasia (XLHED) in humans characterized by impaired development of hair, eccrine sweat glands, and teeth. In contrast, all the affected individuals in the two families that we studied here had normal hair and skin. Structural analysis suggests that these two novel mutants may account for the milder phenotype by affecting the stability of EDA trimers. Our results indicate that these novel missense mutations in EDA are associated with the isolated tooth agenesis and provide preliminary explanation for the abnormal clinical phenotype at a molecular structural level.

The aim of this study was to determine the effects of intense pulsed light (IPL) on cell proliferation and the secretion of vascular endothelial growth factor (VEGF) and matrix metalloproteinases (MMPs) in human fibroblasts and vascular endothelial cell lines, and to investigate the effects of IPL on the mRNA expression levels of type I and III procollagens in cultured human fibroblasts. Foreskin fibroblasts and a vascular endothelial cell line (ECV034) were cultured and treated with various wavelengths and doses of IPL irradiation. After culture for 1, 12, 24 and 48 h following IPL irradiation, fibroblasts and the vascular endothelial cell line were harvested for investigation of morphological changes by light microscopy, cell proliferation viability by MTT assay, and VEGF and MMP secretions by ELISA. The mRNA expression levels of type I and III procollagens in the fibroblasts were detected by RT-PCR. No marked morphological changes were observed in the cultured fibroblasts compared with the control. Cell growth and cellular viability were increased in fibroblasts 24 and 48 h after IPL irradiation. The levels of type I and III procollagen mRNA expression in fibroblasts increased in a time-dependent manner. However, the IPL management had no impact on VEGF and MMP secretion levels in fibroblasts and the ECV034 cell line at any time-point after irradiation as well as cell morphology and cellular proliferation. IPL irradiation may induce cellular proliferation and promote the expression of procollagen mRNAs directly in cultured primary fibroblasts, which may primarily contribute to photorejuvenation.

BackgroundTopical pimecrolimus has been shown to reverse epidermal CD1a+ Langerhans cell reduction induced by high-dose ultraviolet (UV)B irradiation, but the mechanism is still unclear. This study aimed to investigate the possible mechanism of the effect of pimecrolimus on high-dose UVB-irradiated epidermal Langerhans cells.MethodsForty human foreskin tissues were divided into four groups: control; pimecrolimus-only; UVB-only; and UVB + pimecrolimus. All tissues were cultured, and each tissue was cut into four pieces, corresponding to four time points (0 hours, 18 hours, 24 hours, and 48 hours). We collected the tissues and culture medium at each time point. The percentage of CD1a+ cells in medium was detected by flow cytometry. The tissues were detected for messenger (m)RNA and protein expression of tumor necrosis factor (TNF)-α, interleukin (IL)-1β, and E-cadherin, by reverse-transcription polymerase chain reaction (PCR) and Western blot.ResultsAt 18 hours, 24 hours, and 48 hours, the CD1a+ cells in the culture medium of the UVB-only group and the UVB + pimecrolimus group were significantly more than in the control group, while the CD1a+ cells of the UVB + pimecrolimus group was less than of the UVB-only group. For both the UVB-only group and UVB + pimecrolimus group, TNF-α expression (by both reverse-transcription PCR and Western blot) of the tissues was clearly higher and E-cadherin expression was significantly lower compared with the control group, at 18 hours, 24 hours, and 48 hours. For the UVB + pimecrolimus group, TNF-α was clearly lower and E-cadherin was significantly higher compared with the UVB-only group.ConclusionTopical pimecrolimus inhibited epidermal Langerhans cell migration induced by high-dose UVB irradiation, via regulation of TNF-α and E-cadherin.

Skin cancer is one of the most common types of cancers that is sometimes difficult for doctors and experts to diagnose. The noninvasive dermatoscopic method is a popular method for observing and diagnosing skin cancer. Because this method is based on ocular inference, the skin cancer diagnosis by the dermatologists is difficult, especially in the early stages of the disease. Artificial intelligence is a proper complementary tool that can be used alongside the experts to increase the accuracy of the diagnosis. In the present study, a new computer-aided method has been introduced for the diagnosis of the skin cancer. The method is designed based on combination of deep learning and a newly introduced metaheuristic algorithm, namely, Wildebeest Herd Optimization (WHO) Algorithm. The method uses an Inception convolutional neural network for the initial features’ extraction. Afterward, the WHO algorithm has been employed for selecting the useful features to decrease the analysis time complexity. The method is then performed to an ISIC-2008 skin cancer dataset. Final results of the feature selection based on the proposed WHO are compared with three other algorithms, and the results have indicated good results for the system. Finally, the total diagnosis system has been compared with five other methods to indicate its effectiveness against the studied methods. Final results showed that the proposed method has the best results than the comparative methods.

Taenia solium (T. solium) cysticercosis is a neglected parasitic zoonosis that occurs in developing countries. Since T. solium has a complex life cycle that includes eggs, oncospheres, cysticerci, and adults, presumably many proteins are produced that enable them to survive and establish an infection within the host. The objectives of this study were to perform a comparative proteomic analysis of two ontogenetic stages of T. solium (cysticerci and adult) and to analyze their differential expression of proteins. Methods proteins were separated by High Performance Liquid Chromatography (HPLC) fractionation, and protein samples were also digested in liquid and identified by liquid chromatography tandem mass spectrometry (LC-MS/MS); the differentially expressed proteins were then processed by a bioinformatics analysis and verified by parallel reaction monitoring (PRM). Results we identified 2,481 proteins by label-free quantitative proteomics. Then differentially expressed proteins were screened under P values < 0.05 and 2 fold change, we found that 293 proteins up-regulated and 265 proteins down-regulated. Discussion through the bioinformatics analysis, we analyzed the differences types and functions of proteins in the Taenia solium and cysticercus, the data will provide reference value for studying the pathogenic mechanism of the two stages and the interaction with the host, and also support for further experimental verification.