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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.  相似文献   
3.
目的 评价调整光学切削直径及Kappa角后对准分子激光原位角膜磨镶术(laser in situ keratomileusis,LASIK)后效果的影响。方法 选取2017年1月至12月在我院行LASIK手术的高度近视患者313例(626眼),根据切削直径分成两组,试验组157例314眼,切削直径设定为6.0 mm,对照组156例312眼,切削直径设定为6.5 mm。试验组患者激光切削前修正Kappa角,对照组不做修正。患者术前进行裸眼视力、主视眼确定、验光、眼压、暗室下瞳孔直径、泪液分泌试验、裂隙灯、散瞳验光、眼底检查、pentacam测量角膜厚度、角膜地形图测量角膜前后表面及Kappa角等检查。术后1 d、1周、1个月随访,并检查裸眼视力、角膜厚度、波前像差及夜间视力、光晕、眩光等情况。比较两组患者角膜厚度变化、手术所用时间以及两组患者术后的高阶像差的差异。结果 试验组与对照组患者年龄分别为18~44(24.19±5.33)岁、18~42(25.08±4.91)岁,屈光度分别为(-7.47±1.04)D、(-7.61±1.12)D。两组年龄、屈光度比较差异均无统计学意义(均为P>0.05)。试验组与对照组患者术前Kappa角分别为,X轴:(210±40)μm、(200±30)μm,Y轴:(190±30)μm、(220±40)μm,差异无统计学意义(P=0.210)。两组手术前后的角膜厚度及术后角膜基质床的厚度差异均无统计学意义(均为P>0.05)。试验组与对照组的手术时间分别为(15.56±1.89)s和(20.83±3.03)s,差异有统计学意义(P=0.000)。试验组的总高阶像差和垂直慧差的变化均明显低于对照组(均为 P<0.01),但两组间的水平慧差差异无统计学意义(P>0.05),对照组的球差低于试验组(P<0.01)。结论 LASIK手术中科学合理地调整Kappa角可有助于提高患者术后的视觉质量。  相似文献   
4.
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.  相似文献   
5.
The present study compared the level of occupational strain and work ability among Han, Hui, Uygur, Hui, and Kazakh teachers, and explored ethnic differences based on the associations of psychosocial factors at work, occupational strain, and work ability. A cross-sectional survey was conducted among 2,941 teachers in primary and secondary schools in Xinjiang Province, China. Psychosocial factors, occupational strain, and work ability were measured using the Occupation Stress Inventory—Revised Edition (OSI-R) and Work Ability Index. Han and Hui teachers experienced reduced work ability compared with Uygur and Kazakh teachers, and this finding was caused, in part, by exposure to psychosocial factors at work. The vocational and psychological strains caused by these factors play an important role in reduced work ability among all ethnic teacher groups. The findings indicate the importance of taking action to reduce occupational strain for promoting teachers' work ability in multiethnic workplaces.  相似文献   
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7.

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.

Methods

During the period January 2009 to August 2016, 202 adult deceased-donor KTs were performed at our center. Group A (n = 27; reconstruction of multiple arteries) and Group B (n = 175; control group) were compared.

Results

No differences were observed between the 2 groups in terms of early postoperative course, with no vascular complication observed in Group A. No vascular patch infections were reported, nor longer cold ischemia time rates. Similarly, long-term survival rates were similar between the 2 groups.

Conclusions

The Teflon-patch arterial reconstruction technique appears to be safe and effective, with an acceptable balance of benefits and potential risks of using a prosthetic material. Studies based on larger series are needed to further validate this approach.  相似文献   
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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.  相似文献   
10.
笔者根据现代临床子宫内膜的病理演变过程结合中医“异病同治”理念,提出“子宫内膜功能亢进性疾病”概念,涵盖5种常见的子宫内膜疾病:无排卵性异常子宫出血(Abnormal Uterine Bleeding Ovulatory dysfunction,AUB-O),子宫内膜息肉(Endometrial Polyp,EP),子宫内膜异位症(Endometriosis,EMs),子宫腺肌病(Adenomyosis,AM),子宫内膜癌(Endometrial Carcinoma,EC)。基于文献的汇总,分析得到此类疾病的子宫内膜病理演变与中医病因病机的关联性,为寻找关键通路、创新性治疗此类疾病提供了重要的参考方向,对深化中医妇科学常见疾病的共性病因病机提供了理论依据和探索思路。  相似文献   
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