腘窝直接皮动脉穿支蒂螺旋桨皮瓣转位修复腘窝软组织缺损

目的探讨腘窝直接皮动脉穿支蒂螺旋桨皮瓣转位修复腘窝软组织缺损的临床效果。方法采用回顾性病例系列研究分析2013年6月至2019年6月,上海交通大学医学院附属新华医院(崇明)收治的9例腘窝软组织缺损患者临床资料,男6例,女3例,年龄25~73岁,平均49.6岁,腘窝缺损创面为6.5 cm×3.5 cm~17.0 cm×8.5 cm。根据解剖学基础,结合腘窝缺损创面的位置、大小、形状,设计并切取腘窝直接皮动脉穿支蒂螺旋桨皮瓣转位修复腘窝缺损创面,皮瓣面积最大为18.0 cm×10.0 cm,最小为7.5 cm×4.5 cm。根据皮瓣成活、感染控制、弹性色泽、外观形态、供区瘢痕、皮肤感觉、膝关节活动功能、患者认可度等情况,对患者术后疗效进行综合评价。结果 9例皮瓣术后全部顺利成活,供、受区伤口一期愈合,其中2例皮瓣远端发生皮缘坏死,给予换药处理后完全愈合。术后均获6~60个月随访,平均33个月,皮瓣成活优良,形态满意,色泽、弹性、质地与周围正常皮肤接近,供区瘢痕较小。疗效评价:满意8例,一般1例,无不满意。膝关节功能优7例,良1例,可1例。皮瓣肿胀评级,早期:Ⅰ度6例,Ⅱ度2例,Ⅲ度1例,Ⅳ度0例;后期:Ⅰ度8例,Ⅱ度1例,Ⅲ度0例,Ⅳ度0例。结论腘窝直接皮动脉穿支蒂螺旋桨皮瓣移位修复腘窝缺损创面方法简便、安全可靠、损伤较小,易于推广,是修复腘窝皮肤软组织缺损的理想方法之一。     

The protective effect of zeaxanthin on human limbal and conjunctival epithelial cells against UV-induced cell death and oxidative stress

AIM: To explore the protective effect of zeaxanthin on human limbal and conjunctival epithelial cells against UV-radiation and excessive oxidative stress. METHODS: Human limbal and conjunctival epithelial cells were isolated from cadaver and cultured in vitro. They were challenged with UVB radiation and H2O2 with and without zeaxanthin pretreatment. Cell viability, p38 and c-JUN NH(2)-terminal kinase (JNK) phosphorylation, IL-6, IL-8 and MCP-1 secretion and malondialdehyde (MDA) content were measured. RESULTS: Zeaxanthin had no measurable cytotoxicity on limbal or conjunctival epithelial cells when used at concentrations of 5 μg/mL and below. At 30 mJ/cm2 UVB, the pretreatment of zeaxanthin increased the percentage of live cells from 50% to 69% (P=0.01) and from 66% to 75% (P=0.05) for limbal and conjunctival epithelial cells, respectively. The concentrations of IL-6, IL-8 and MCP-1 in the culture medium reduced to 66% (for IL-6 and MCP-1) and 56% (for IL-8) of the levels without zeaxanthin. This was accompanied by reduced p38 and JNK protein phosphorylation. Pretreatment of zeaxanthin also reduced intracellular MDA content caused by H2O2 stimulation from 0.86 μmol/L to 0.52 μmol/L (P=0.02) in limbal epithelial cells and from 0.96 μmol/L to 0.56 μmol/L in conjunctival epithelial cells (P=0.03). However, zeaxanthin did not have significant effect on H2O2-induced cell death in limbal or conjunctival epithelial cells. CONCLUSION: Zeaxanthin is an effective reagent in reducing the detrimental effect of UV-radiation and oxidative stress on ocular surface epithelial cells.     

保留晶状体的玻璃体切除术治疗4A期早产儿视网膜病变

目的 评价保留晶状体的玻璃体切除术治疗4A期早产儿视网膜病变后视网膜解剖复位情况以及视功能情况.方法 回顾性病例研究.15例20只4A期早产儿视网膜病变患眼经确诊后均在全麻下施行了保留晶状体的玻璃体切除术.术后随访通过间接检眼镜以及RetCamⅡ成像系统检查视网膜解剖复位情况,使用条栅视力(Lea gratingTM)检查来评估视功能的情况.结果 所有20只患眼术后随访中视网膜解剖均完全复位.其中3只患眼伴有黄斑部的变形或牵引(占15％),其余17只患眼术后眼底检查黄斑部结构正常(占85％).共9例患儿12只眼完成了条栅视力的检查,平均条栅视力值为(6.4±.2.5)c/d(2～12 c/d),转换为五分视力值平均为4.29±0.20 (3.82～4.60).其中1只患眼视力为3.82,1只患眼视力为4.0,其眼底检查都发现有黄斑部的变形以及牵引;其余10只患眼视力都优于4.3(4.30～4.60).结论 通过保留晶状体的玻璃体切除术治疗4A期早产儿视网膜病变,能够使视网膜解剖复位成功,并达到良好的视功能预后.     

毛囊角化病ATP2A2基因突变二例及家系调查

【摘要】 例1男，16岁，面部、颈部及双腋下见密集褐色毛囊角化性丘疹，部分融合成斑块，局部可见疣状增生；母亲与其有相似的病史及临床表现。例2男，21岁，头面部、颈部、躯干、双腋下及臀部见弥漫性毛囊角化性丘疹，部分融合成片，局部可见疣状增生；家族成员均无类似症状。例2颈部皮损组织病理：表皮角化过度伴灶状角化不全，棘层部分区域棘刺松解并有腔隙形成，可见绒毛、圆体和谷粒细胞，真皮浅层炎症细胞浸润。2例患者及其父母基因检测：例1及母亲ATP2A2基因存在第15外显子c.2300A>G错义突变；例2第15外显子与第15内含子交界处存在c.2097+5G>A 剪切区域突变。2例患者其他家族成员未见上述突变。     

乳腺癌患者不同乳房重建术后乳房感觉恢复情况研究进展

随着外科手术技术的进步、患者对生存质量要求的不断提高,乳腺癌外科治疗的目标从最初的根除肿瘤、解除病痛发展为修复局部缺损、还原乳房外形,并进一步发展至目前美学与功能学并重的乳房重建。作为功能学的重要组成部分,乳房感觉对乳腺癌患者术后生活质量的影响不容忽视。乳房重建术后乳房感觉的恢复已成为乳腺癌外科治疗的重要目标之一。本文就乳腺癌患者不同乳房重建术后乳房感觉恢复情况的研究进展作一综述。     

Haplotype-based approach for noninvasive prenatal tests of Duchenne muscular dystrophy using cell-free fetal DNA in maternal plasma

PurposeThis study demonstrates noninvasive prenatal testing (NIPT) for Duchenne muscular dystrophy (DMD) using a newly developed haplotype-based approach.MethodsEight families at risk for DMD were recruited for this study. Parental haplotypes were constructed using target-region sequencing data from the parents and the probands. Fetal haplotypes were constructed using a hidden Markov model through maternal plasma DNA sequencing. The presence of haplotypes linked to the maternal mutant alleles in males indicated affected fetuses. This method was further validated by comparing the inferred single-nucleotide polymorphism (SNP) genotypes to the direct sequencing results of fetal genomic DNA. Prenatal diagnosis was confirmed with amniocentesis, and those results were interpreted in a blinded fashion.ResultsThe results showed an average accuracy of 99.98% for the total inferred maternal SNPs. With a mean depth of 30× achieved in the 10-Mb target region of each sample, the noninvasive results were consistent with those of the invasive procedure.ConclusionThis is the first report of NIPT for DMD and the first application of a haplotype-based approach in NIPT for X-linked diseases. With further improvements in accuracy, this haplotype-based strategy could be feasible for NIPT for DMD and even other X-linked single-gene disorders.Genet Med17 11, 889–896.     

An update on mesenchymal tumors of the head and neck

The purpose of this review is to offer a brief reappraisal of several soft tissue neoplasms germane to the head and neck region. Specifically, this paper is intended to draw attention to the recently described low-grade sarcoma with neural and myogenic features. In addition, other tumors that are largely specific to the head and neck region, including nasopharyngeal angiofibroma, sinonasal hemangiopericytoma and spindle cell/pleomorphic lipoma, will be reviewed in light of recent advances in our understanding of their pathophysiology and diagnosis.