先天性厚甲症-I型患者及正常人指甲的红外光谱对比分析

目的应用傅里叶变换红外光谱(Fourier transform infrared,FTIR)技术和曲线拟合方法,比较先天性厚甲症-I型(PC-1)患者指甲与正常人指甲在红外光谱参数和蛋白质二级结构方面的差异。方法收集来自3个家系的PC-1患者手指甲7例和正常人手指甲10例,FTIR分析采用溴化钾压片方法进行;红外光谱酰胺I带采用PeakFit v4.12软件处理,求取蛋白质各二级结构百分含量。结果在红外光谱波数为3 000~1 000 cm-1的范围内,PC-1患者指甲与正常人指甲的光谱参数,如峰位置、峰强度和峰形状等均存在明显差异;另外,与正常人指甲相比,患者指甲蛋白质二级结构最为显著的变化是α-螺旋的增加和β-折叠的减少,这显示PC-1患者指甲具有更高的稳定性。结论PC-1患者和正常人指甲在光谱参数和蛋白质二级结构方面存在显著的差异,不仅为阐明PC-1的生化机制及其治疗提供了微观结构方面的参考,同时也表明红外光谱技术在研究人类皮肤疾病方面有着好的应用前景。     

Longitudinal melonychia: clinical evaluation and biopsy technique

Longitudinal melonychia is a brown streaking of the nailbed. It is often benign but can be a subungual melanoma. Subungual melanoma is a rare malignancy. Diagnosis is often delayed, resulting in a higher staging and poorer prognosis than other cutaneous melanomas. We provide an update on the evaluation of longitudinal melonychia and biopsy technique.     

A comparative study for the isolation of exogenous trace DNA from fingernails

Often fingernails from a victim or suspect involved in a physical assault, such as murder or sexual assault, are submitted to crime laboratories for DNA testing of foreign/exogenous biological material; however, very few studies have been conducted comparing the effectiveness of different sampling methods on the removal of foreign/exogenous DNA while minimizing the fingernail endogenous DNA. In this study three different sampling methods (swabbing, PBS soak, and PrepFiler® lysis buffer soak) were compared in order to identify one that minimizes the amount of endogenous DNA removed and maximizes the amount of foreign/exogenous male DNA removed. The samples were processed using the Tecan HIDEVO150 robot in order to reduce analyst time and the DNA mixtures were interpreted using the probabilistic genotyping software STRmix™. For each sampling method the quantity of male DNA, the mixture proportions, the number of foreign/exogenous male alleles detected, the amount of DNA degradation, and the discrimination power via the likelihood ratio obtained for the foreign/exogenous male DNA donor were determined and compared. The PrepFiler® lysis buffer soak and swabbing sampling methods appear to be equally effective at removing foreign/exogenous DNA from fingernails; however, the lysis buffer soak sampling method extracts more female endogenous DNA from the fingernail and the female DNA is degraded. Marginally higher likelihood ratios were obtained for the swab samples versus the PrepFiler® lysis buffer soak samples; therefore, it was determined that the swabbing sampling method was the best sampling method for the recovery of foreign exogenous DNA from fingernails while minimizing the amount of endogenous DNA removed.     

废弃指骨或髂骨与皮管、指(趾)甲复合移植Ⅰ期再造部分手指

目的探讨一种新式部分手指再造的手术方法.方法自1996年2月～1999年10月对因离断伤及脱套伤而无再植条件的25例28指,利用废弃指指骨或髂骨,取对侧腋下管状皮管加游离废弃指指甲或取足趾趾甲再造部分手指.结果再造28指的皮瓣全部成活,游离指(趾)甲完全成活22指,部分成活4指,失败2指.经术后6个月～3年半随访,再造手指功能良好,外形美观.结论此术式方法简单、设计合理,不吻合血管及神经就能恢复良好的外形及功能,尤其对末节以远离断是很好的适应证. ,     

电子顺磁共振在体测量指甲剂量方法的可行性研究

目的 针对核应急医学救援剂量评估的需求,为解决指甲电子顺磁共振（EPR）剂量评估方法中机械诱发信号难以分离的问题,探讨指甲EPR在体测量的可行性。方法 利用自研的指甲在体EPR测量装置,对未剪碎指甲进行整体测量,在无机械诱发信号干扰的条件下研究指甲的本底信号及辐射诱发信号特性,探索通过水处理恢复本底信号的方法;开展指甲实际在体EPR测量实验,评价在体测量条件对EPR波谱的影响。结果 未剪碎指甲的本底信号分布服从正态分布,不同性别志愿者的指甲本底信号差异无统计学意义（P>0.05）;在2~10 Gy范围内建立了剂量响应关系,指甲辐射诱发信号半衰期约为5 d;建立了变温结合水处理的本底信号恢复方法,处理后指甲EPR信号与本底信号差异无统计学意义（P>0.05）;获得了实际在体测量条件下的指甲EPR波谱。结论 利用本方法可以获得不含有机械诱发信号的EPR波谱,初步验证了指甲在体EPR测量用于剂量评估的可行性。     

Results of vertical figure-of-eight tension band suture for finger nail disruptions with fractures of distal phalanx

Background:

Fingertip injuries involve varying degree of fractures of the distal phalanx and nail bed or nail plate disruptions. The treatment modalities recommended for these injuries include fracture fixation with K-wire and meticulous repair of nail bed after nail removal and later repositioning of nail or stent substitute into the nail fold by various methods. This study was undertaken to evaluate the functional outcome of vertical figure-of-eight tension band suture for finger nail disruptions with fractures of distal phalanx.

Materials and Methods:

A series of 40 patients aged between 4 and 58 years, with 43 fingernail disruptions and fracture of distal phalanges, were treated with vertical figure-of-eight tension band sutures without formal fixation of fracture fragments and the results were reviewed. In this method, the injuries were treated by thoroughly cleaning the wound, reducing the fracture fragments, anatomical replacement of nail plate, and securing it by vertical figure-of-eight tension band suture.

Results:

All patients were followed up for a minimum of 3 months. The clinical evaluation of the patients was based on radiological fracture union and painless pinch to determine fingertip stability. Every single fracture united and every fingertip was clinically stable at the time of final followup. We also evaluated our results based on visual analogue scale for pain and range of motion of distal interphalangeal joint. Two sutures had to be revised due to over tensioning and subsequent vascular compromise within minutes of repair; however, this did not affect the final outcome.

Conclusion:

This technique is simple, secure, and easily reproducible. It neither requires formal repair of injured nail bed structures nor fixation of distal phalangeal fracture and results in uncomplicated reformation of nail plate and uneventful healing of distal phalangeal fractures.     

指端挫灭伤指甲再生及扩大成形术的临床研究

目的 探讨指端Ersahy-B、C平面以远挫灭伤指甲再生的理想方法。方法 设计了指端背侧逆推进皮瓣，使甲近侧皱襞向近心端推移，甲根大部分裸露扩大甲床，甲近侧皱襞下仍保留1.0mm-1.5mm的甲根。选择性应用指腹Ⅴ-Y推进皮瓣或对侧腋下带蒂皮瓣覆盖伤指残端创面。结果 应用本术式治疗Ersahy-B、C平面以远挫灭离断伤26例，随访1－3年，优：16例，良：5例，可：3例，差：2例，优良率80.7%。结论 该术式具有操作简便，可最大限度地恢复指端挫灭伤的指甲功能及美观等优点。     

Evaluating the prevalence of DNA mixtures found in fingernail samples from victims and suspects in homicide cases

An important aspect of homicide investigations is the identification of the persons that had the last contact with the victim prior to death. Violent crimes are frequently characterized by a struggle between the victim and the perpetrator where biological material can be expected to be exchanged between them.Forensic DNA typing enables the generation of genetic profiles by extraction and amplification of cellular material found under fingernails. The evidential value of these samples may be critical if the secondary contributor found in a DNA mixture, can be matched with a potential suspect, or through a DNA database search.The amount of biological material transferred under the fingernails during “casual” activities is not sufficient to genotype reportable mixtures. This may not be the case with homicide victims that may have struggled and died under violent circumstances.The aim of this study was to evaluate the prevalence of DNA mixtures found under the fingernails of both victims and suspected perpetrators of violent deaths.We present a retrospective study of 137 DNA profiles genotyped from fingernail samples of homicide victims and suspects, collected at the Israeli National Center of Forensic Medicine. The majority of the samples produced single source profiles (n = 107, 78%) that matched those of the donor's. DNA mixtures (n = 30, 22%) were found in increased frequency among victims (n = 25/100, 25%) compared to suspects (n = 5/37, 13.5%). Mixtures were sub-divided into high level (n = 15, 50%), low level (n = 9, 30%) and residual (n = 6, 20%), according to the number of the foreign contributors’ alleles. Thus, this distinctive group of homicide victims was found to express both elevated frequency of DNA mixtures together with highly informative value of the secondary foreign profiles, as compared to other studied populations. These findings support an important aspect for the criminal investigation in murder cases, where a struggle may have ensued and the identification of an additional profile found in a mixture from a fingernail sample may point to a possible perpetrator of the crime.