A KRT1 gene mutation related to epidermolytic ichthyosis in a Chinese family

We report a Chinese family with members affected by epidermolytic ichthyosis (EI), caused by KRT gene mutations. The proband was a 14‐year‐old boy who had simultaneous appearance of nephroblastoma and epidermolytic ichthyosis (EI). Both the patient and his mother exhibited the specific clinical and pathological manifestations of EI. We analysed all exons and flanking sequences of the KRT1 and KRT10 genes using PCR, and found that the proband and his mother had a G>C transition at nucleotide position 1432 in exon 7 of KRT1, resulting in an amino acid substitution of glutamate (GAA) to glutamine (CAA) at codon 478 (E478Q). The KRT10 gene had no mutations.     

Porocarcinoma coexisting at a site of Bowen disease in a 63‐year‐old woman

Porocarcinoma is an unusual, locally aggressive and potentially fatal neoplasm. Several cutaneous malignancies have been described in association with porocarcinoma, including squamous cell carcinoma, basal cell carcinoma and tricholemmal carcinoma. Previous reports have indicated that the occurrence of malignant tumours in combination with porocarcinoma is extremely rare, in particular with regard to Bowen disease (BD). We report an uncommon case of porocarcinoma occurring synchronously in a single BD lesion in a 63‐year‐old woman with multiple BD lesions. The clinical and histological findings confirmed this diagnosis.     

Surgical Technique Notes of Arterial Vascular Reconstruction During Kidney Transplantation: Personal Experience and Literature Review

Background

Arterial vascular anomalies in patients undergoing kidney transplantation (KT) are correlated with a higher incidence of early surgical complications, potentially causing graft loss. Arterial reconstruction allows patients to overcome these surgical challenges, thus minimizing the risk of poor outcomes. The aim of the present study is to retrospectively investigate the safety and effectiveness of the multiple arterial reconstruction technique with a Teflon patch in case of an unavailable aortic patch: to do so, surgical complications, graft function, and patient survival were evaluated.

新型冠状病毒肺炎出院患者生活质量及影响因素研究

目的:了解新型冠状病毒肺炎(COVID-19)患者出院后的生活质量及其影响因素,为优化早期干预方案,预防社区生活受限,制定相应社区康复措施提供依据。方法:选择2020年3—4月在武汉华润武钢总医院治愈出院的COVID-19患者57例,于2020年4—5月通过"问卷星"平台采用简明健康状况调查量表(SF-12V2)调查患者的生活质量;采用焦虑自评量表(SAS)调查患者的焦虑状态;采用抑郁自评量表(SDS)调查患者的抑郁状态;采用呼吸困难指数量表(mMRC)调查患者的呼吸困难程度。比较不同特征COVID-19患者生活质量的差异;分析患者生活质量与焦虑、抑郁和呼吸困难程度的相关性及其相关的影响因素。结果:共发放57份调查问卷,剔除重复及无效问卷3份,获得有效问卷54份,问卷有效率达94.74%。(1)COVID-19出院后患者生活质量情况:生理总评分和心理总评分分别为(37.02±12.32)分、(38.46±14.42)分;呼吸困难等级0~3级的分别为3例(5.56%)、45例(83.33%)、5例(9.26%)、1例(1.85%);有19例(35.19%)存在焦虑情绪(SAS≥50分)和抑郁情绪(SDS≥53分)。(2)不同特征COVID-19患者生活质量比较:不同疾病分型的患者在生理总评分方面差异有统计学意义(P<0.05)。(3)生活质量与焦虑、抑郁和呼吸困难程度的相关性分析:Pearson相关分析结果显示,SF-12V2生理总评分与焦虑程度(r=-0.34,P=0.011)和呼吸困难程度(r=-0.39,P=0.003)之间存在负相关性,SF-12V2心理总评分与焦虑程度(r=-0.46,P=0.001)和抑郁程度(r=-0.40,P=0.002)之间存在负相关性。(4)COVID-19患者生活质量的影响因素分析:多元线性回归分析显示,性别(β=8.27)、抑郁程度(β=-0.34)和疾病分型(β=-11.68)是患者SF-12V2生理总评分的重要决定因素(P<0.05);焦虑程度(β=-0.62)是患者SF-12V2心理总评分的重要决定因素(P<0.05)。结论:COVID-19出院患者存在呼吸困难、焦虑抑郁情绪和生活质量下降的问题;性别、疾病分型、抑郁程度和焦虑程度是COVID-19患者生活质量下降的重要因素。COVID-19患者(特别是女性患者和重型患者)出院后要尽早进行抑郁症和焦虑症的筛查和干预,减少患者负性情绪,鼓励患者适当参与康复训练,提高呼吸功能,从而促进生活质量提高。     

Improvements in epidermal function prevent relapse of psoriasis: a self‐controlled study

While therapeutic approaches for psoriasis are widely available, preventive regimens are lacking. We aimed to determine whether improvements in epidermal function could prevent psoriasis relapse. Two self‐controlled cohort studies were designed, enrolling two cohorts of patients with psoriasis (n = 30 and n = 60) to be treated topically with an in‐house‐prepared emollient or ATOPALM^® cream applied twice daily to one forearm for 20 and 30 days, respectively, while the same sites on the contralateral arm served as the untreated control. Epidermal function on both arms was assessed prior to and at the end of the trials. Delayed relapse on the treated arm was seen in 54.5% and 71% of patients in the first and second cohort, respectively. The time of psoriatic relapse correlated with the extent of abnormalities in baseline epidermal function. These results suggest that improvements in epidermal function with topical emollients can prevent/attenuate the development of psoriasis.