Background Keloids are the result of abnormal wound healing, and they differ from the normal skin of the patient in the level of blood perfusion and the degrees of inflammation, hypoxia, regeneration of vessels, and expression of sensory receptors. However, there is no objective assessment method to accurately characterize the severity of keloids. Objectives The purpose of this study was to evaluate the perfusion levels of keloids and the expression levels of various internal cytokines, including hypoxia‐induced factor‐1α (HIF‐1α), vascular endothelial growth factor (VEGF), interleukin‐17 (IL‐17), HT2A receptor subtype (5‐HT2AR), and H1R, in keloids and nonadjacent normal skin and to propose a laser speckle contrast imaging (LSCI)‐based relative perfusion index (RPI), through which keloids can be divided into five grades to objectively characterize their severity. Methods This population‐based cross‐sectional study included 70 untreated keloid patients who each had only one keloid on the chest. LSCI was used to measure the area of each patient's keloid (Karea ${K}_{\mathrm{area}}$) and the perfusion level of each patient's keloid (Kperfusion ${K}_{\mathrm{perfusion}}$) and normal skin (Nperfusion ${N}_{\mathrm{perfusion}}$). The Vancouver Scar Scale (VSS) and Visual Analog Scale (VAS) for pain and pruritus were also used to assess each keloid. Immunohistochemistry and Western blot were used to detect the expression levels of various internal cytokines in keloids and normal skin. We compared the perfusion and expression levels of intrinsic cytokines between keloids and normal skin. We established the RPI to grade the severity of keloids and applied different methods to test the utility of the RPI. Results The mean perfusion level of keloids was significantly higher than that of normal skin (p < 0.001). The expression levels of HIF‐1α, VEGF, IL‐17, 5‐HT2AR, and H1R in keloids were significantly higher than those in normal skin (p < 0.05). RPI was defined as: [( Kperfusion − Nperfusion ) × 0.03 + Karea × 0.001 ] . $[({K}_{\mathrm{perfusion}}-{N}_{\mathrm{perfusion}})\times 0.03+{K}_{\mathrm{area}}\times 0.001].$ The severity of keloids could be divided into five grades based on RPI. The RPI had a higher correlation with the pain‐VAS, pruritus‐VAS, and the expression levels of internal cytokines in keloids than blood perfusion levels and the VSS. T‐SNE (t‐distributed stochastic neighbor embedding) was also used to verify the clinical discriminatory abilities of this RPI model. Conclusions The proposed RPI based on LSCI showed the highest accuracy, unlike the VSS and assessment of perfusion, and can be utilized as a reliable, objective, quantitative, and noninvasive tool to evaluate the severity of keloids.
Background Cornelia de Lange syndrome (CdLS) is a rare dominantly inherited developmental disorder with an estimated prevalence of 0.5–10:100,000 and no racial disparity in prevalence. The aim of this study was to present two unrelated Chinese CdLS individuals with mutations in NIPBL and to perform a comprehensive analysis of a Chinese cohort with CdLS. Subjects and methods Two unrelated Chinese patients complaining of short stature were referred to the outpatient department of Peking Union Medical College Hospital (PUMCH). Their clinical data at birth and at the most recent assessment were collected. Mutation analysis was carried out by whole exome sequencing. Twenty‐four Chinese cases with CdLS were identified through a systematic review of the literature published between 1987 and 2017. Results Two patients presented with typical phenotypes, characteristic complications of CdLS and mutations in the NIPBL gene. The average age at diagnosis of the 26 Chinese cases was higher than that of other cohorts. The frequencies of characteristic manifestations of CdLS were similar with those of other populations. Conclusions By investigating 26 Chinese cases of CdLS, we observed that the clinical data and gene variants in the Chinese cohort of CdLS patients were generally in accordance with those of other populations.
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