Rationale: Nevoid basal cell carcinoma syndrome (NBCCS) is a rare clinical disease characterized by a disproportionate number of basal cell carcinoma to sun exposure and skin types. Patched 1 (PTCH1) gene is proposed to be implicated in the pathogenesis of NBCCS. This study aimed to investigate whether PTCH1 gene is the causative gene in Chinese patients with NBCCS. Patient concerns: Here we detected the first nonsense mutation in PTCH1 gene by Sanger sequencing of blood samples from a mother and her second daughter (NM000264: exon14: c.2080C>T: p.Q694X). Diagnoses: Both of the mother and her second daughter had ovarian mature teratomas. Interventions: The mother received liquid nitrogen cryotherapy, surgical resection, and radiation therapy, while her second daughter was treated with a GX-III multifunctional ion surgical therapy machine and surgery. Outcomes: New rashes continued to appear and contractures of the right eyelid healed in the mother, while her second daughter had multiple pitting depressions on the palms and soles of both hands and feet. Conclusion: We detected a new mutation in PTCH1 gene in 2 patients with NBCCS, and both of them had ovarian mature teratomas, which are related to NM000264: exon14: c.2080C>T: p.Q694X.

玫瑰痤疮是一种慢性炎症性皮肤病,其发病机制尚未完全明确,临床治疗方法多样.但对于阵发性潮红症状容易反复发生、不止合并一种临床类型、且此类患者对药物治疗易产生抵抗的难治性玫瑰痤疮的治疗,目前还未有一种药物显示出稳定的临床疗效.为了探索难治性玫瑰痤疮新的治疗方法,尝试用Jak抑制剂托法替尼治疗3例玫瑰痤疮患者,其中2例患者皮损出现改善,且未发生不良反应,而另一名患者治疗后出现皮损加重.

目的 探讨急性冠状动脉综合征(ACS)患者中性粒细胞/淋巴细胞比值(NLR)、血小板/淋巴细胞比值(PLR)与冠状动脉狭窄程度及院内主要不良心血管事件(MACE)发生的关系.方法 收集2018年4月至2020年4月于新疆医科大学第一附属医院初次行冠状动脉造影ACS患者(426例)的临床基本资料、实验室参数,根据住院MACE情况,将纳入的患者分为MACE组(104例)和无MACE组(322例).根据Gensini评分的三分位数,将患者分为三组:低Gensini组(≤34分,143例),中Gensini组(34～58分,142例),高Gensini组(>58分,141例),使用t检验、方差分析、卡方检验、非参数Mann-Whitney U检验、Kruskal-Wallish H检验、logistic回归分析和受试者工作特性曲线等统计方法对数据进行分析.结果 MACE组NLR[4.48(2.42,7.47)比2.82(1.79,4.70),P<0.001]和PLR[133.21(92.88,190.25)比101.03(75.33,134.01),P<0.001]显著高于无MACE组,差异有统计学意义.在基于Gensini评分分组的三组中,低Gensini组、中Gensini组、高Gensini组NLR[3.59(1.56,3.58)比3.47(1.94,5.73)比3.71(2.13,6.21),P<0.001]、PLR[93.98(66.03,127.94)比110.90(88.26,140.79)比120.37(84.58,174.54),P<0.001]比较,差异均有统计学意义.logistic回归分析显示,NLR(OR 1.189,95％CI 1.003～1.409,P=0.046;OR 1.102,95％CI 1.005～1.208,P=0.039)、PLR(OR 1.008,95％CI 1.002～1.014,P=0.021;OR 1.004,95％CI 1.002～1.009,P=0.042)是院内MACE和高Gensini评分的独立危险因素.NLR预测院内MACE发生的截断值为4.516,敏感度为50.00％,特异度为74.53％,曲线下面积(AUC)为0.633(95％CI 0.585～0.679,P<0.001);PLR预测院内MACE发生的截断值为153.103,敏感度为45.19％,特异度为84.78％,AUC为0.666(95％CI 0.619～0.711,P<0.001).NLR预测高Gensini评分(>58分)的截断值为3.802,敏感度为49.62％,特异度为66.44％(AUC=0.600,95％CI 0.552～0.647,P<0.001);PLR预测高Gensini评分的截断值为153.543,敏感度为37.40％,特异度为84.75％(AUC=0.616,95％CI 0.567～0.662,P<0.001).结论 NLR、PLR作为一种新的炎症标志物,与ACS患者院内MACE的发生和冠状动脉狭窄的严重程度有显著的独立相关性.NLR、PLR作为一种容易获得且价格便宜的炎症指标,可作为有效的炎症标志物广泛应用于鉴别高危患者,从而有助于指导个体化治疗以改善ACS预后.