Objective:To investigate the correlation between variations in mitochondrial DNA (mtDNA) control region (D-loop) and keloids.Methods:A total of 216 patients with keloids were collected from Department of Dermatology, the First Affiliated Hospital of Kunming Medical University from 2016 to 2019. Total DNA was extracted from peripheral blood samples of all the patients, as well as keloid tissues and perilesional normal skin tissues of 25 patients with keloids. Peripheral blood samples were collected from 299 health checkup examinees without keloids in Health Examination Center, the Affiliated Hospital of Yunnan University, who served as controls. PCR amplification and Sanger sequencing were performed on the mtDNA D-loop region, and mutation sites in each sample were analyzed by comparisons with the revised Cambridge Reference Sequence (rCRS) . Haplogroups were assigned in the 2 groups by using Phylotree-mtDNA tree Build 17. Mutations in the mtDNA D-loop region were compared among keloid tissues, perilesional normal skin tissues and peripheral blood samples. A median-joining network was constructed via network 5.0 software. Binary logistic regression analysis was performed to investigate the correlation between haplogroup frequencies and the occurrence of keloids, and chi-square, t and t′ tests were used to analyze clinical data. Results:Among the 216 patients with keloids, variations in mtDNA D-loop region were classified into 10 haplogroups, including A, B, D, R9, G, M*, M7, M8, M9 and N9, with the haplogroups R9 and M9 showing the highest (21.3%, 46/216) and lowest (0.9%, 2/216) frequencies respectively. The frequencies of haplogroups M7 ( P=0.040, OR=0.248, 95% CI: 0.066 - 0.937) and N9 ( P=0.048, OR=0.191, 95% CI: 0.037-0.986) were significantly lower in the patients with keloids than in the controls. The median-joining network plot showed that the distribution pattern of the haplogroup M7 differed between the patients with keloids and controls. Significantly less number of lesional sites and younger age of onset were observed in the patients with haplogroup M7 compared with those with non-M7 haplogroups ( P=0.000 1, 0.045, respectively) . Conclusion:The haplogroup M7 is correlated with the occurrence of keloids, and may be a potential protective factor for keloid formation.

Progressive diaphyseal dysplasia , also called Camurati-Engelmann disease (CED), is a kind of autosomal dominant disease mainly involved in long diaphysis , characterized as progressive and symmetric cortical thickening as well as low prevalence.The pathogenic gene of the disease is TGFB 1 located in 19q13, resulting in abnormal bone metabolism.We report a young woman suffering from CED , mainly presented as decreased visual acuity , chronic high intracranial pressure and skull damages by cerebral angiography.The digital subtraction angiography revealed the right transverse sinus stenosis .We first revealed a CED patient with chronic high intracranial pressure caused by sinus stenosis , and selected intravascular therapy for the sinus stenosis.

Objective:To evaluate the skin development and repair process of X-ray radiation damage in rat with non-invasive two-photon excitation fluorescence (TPEF) imaging technology in vivo. Methods:Totally 24 SD rats were randomly divided into four groups including X-ray irradiated group (25, 35 and 45 Gy) and non-irradiation control group. At different times after irradiation, the degree of skin injury was evaluated, and the pathological changes of nicotinamide adenine dinucleotide (phosphate) [NAD(P)H] and collagen fiber fluorescence signals in epidermal cells were detected in vivo by TPEF imaging technology. Results:At 10 d post-irradiation, the skin of irradiation groups showed erythema and desquamation. At 15-20 d post-irradiation, the skin of radiation groups developed progressive exudation, edema and ulcers with increasing radiation dose. On day 25, the skin began to repair in the 25 Gy group, however, the skin of other groups still had exudation and ulcers. On day 10, NAD(P)H fluorescence signal in epidermal cells of irradiation groups decreased and the fluorescence signal of collagen fibers in papillary layer and reticular layer of irradiation groups reduced, which were significantly lower than that of normal control group ( t=24.145, 28.303, 26.989, 6.654, 7.510, 7.997, P<0.05). On day 30, fluorescence signal of NAD(P)H and collagen fibers in epidermal cells and dermis began to repair, the cell from stratum granulosum, stratum spinosum, and stratum basale in the 25 Gy group showed fluorescence signal, the other groups did not show. The fluorescence signal of collagen fibers in the 25 Gy group were gradually increased in papillary layer and reticular layer, however, they were significantly lower than normal control group ( t=115.133, 17.431, P<0.05), the skin of 45 Gy group did not show fluorescence signal of collagen fibers. Conclusions:The damage and repair process of epidermal cells and dermal collagen fiber can be detected noninvasively by TPEF imaging technology after X-ray irradiation in vivo.