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.

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.     

T3、T4期结直肠癌淋巴结转移危险因素分析

目的探讨T3、T4期结直肠癌患者淋巴结转移危险因素,为临床诊疗提供参考。方法回顾性分析2008年1月至2017年12月在空军军医大学西京消化病医院行结直肠癌根治术的1112例T3、T4期结直肠癌患者的临床病理资料,分析淋巴结转移状态与临床病理因素及肿瘤标志物的相关性,应用logistic多因素回归法分析淋巴结转移的相关危险因素。结果单因素分析结果显示,性别、年龄、肿瘤部位分层的结直肠癌患者间淋巴结转移率差异均无统计学意义(均P>0.05),淋巴结转移率在不同肿瘤长径[<5 cm和≥5 cm分别为37.75%(211/559)、52.26%(289/553),χ^2=23.666,P<0.01]、大体类型[浸润、溃疡、蕈伞、隆起分别为37.04%(20/54)、47.52%(432/909)、34.33%(23/67)、69.51%(57/82),χ^2=13.787,P=0.003]、分化程度[高、中、低分化分别为34.11%(102/299)、49.00%(317/647)、48.80%(81/166),χ^2=19.771,P<0.01]、错配修复缺陷(dMMR)[是和否分别为26.34%(64/243)、50.17%(436/869),χ^2=43.996,P<0.01]、神经侵犯[是和否分别为48.17%(421/874)、33.20%(79/238),χ^2=16.954,P<0.01]、脉管侵犯[是和否分别为79.16%(338/427)、23.65%(162/685),χ^2=327.493,P<0.01]以及术前癌胚抗原(CEA)[阳性(≥5 mg/ml)和阴性(<5 mg/ml)分别为52.87%(249/471)、39.16%(251/641),χ^2=20.162,P<0.01]和CA199[阳性(≥35 U/ml)和阴性(<35 U/ml)分别为59.33%(124/209)、41.64%(376/903),χ^2=21.465,P<0.01]分层患者间差异均有统计学意义。logistic多因素回归分析显示,脉管侵犯和术前CA199阳性是T3、T4期结直肠癌患者淋巴结转移独立危险因素(OR=13.006,95%CI 9.329~17.276,P<0.01;OR=2.194,95%CI 1.513~3.181,P<0.01),dMMR阳性是淋巴结转移的保护性因素(OR=0.279,95%CI 0.190~0.411,P<0.01)。结论脉管侵犯是T3、T4期结直肠癌患者淋巴结转移的主要危险因素。术前肿瘤标志物CA199的检测可以作为预测T3、T4期结直肠癌患者淋巴结转移状态的指标,一定程度上可为诊疗方案的制订提供参考。