Solid pseudopapillary tumor of the pancreas: ‘Experiences’ and ‘Lessons’ at a tertiary‐care oncology center

Solid pseudopapillary tumor of the pancreas (SPT) is a rare and fascinating entity of elusive histogenesis and unpredictable biology. It has a peculiar proclivity to afflict young females and involve the pancreatic body‐tail region. Cytology diagnosis of these rare neoplasms remains a challenge. We analyzed the cytology features of all SPT cases diagnosed on fine needle aspiration cytology (FNAC) from 2003 to 2009 along with their histopathology slides. Nineteen consecutive cases were diagnosed as SPT on FNAC. Fifteen out of nineteen cases were confirmed as true SPT on histopathology. Amongst the true SPT, all except one occurred in females. Age ranged from 14 to 50 years. Pseudopapillae bearing stout branches terminating in bulbous tips and enclosing transgressing vessels, separated from a collar of tumor cells by a clear zone of myxohyaline coat were pathognomonic of SPT. Singly dispersed monomorphic tumor cells with bland chromatin formed the second diagnostic component of SPT. Nuclear grooves and hyaline globules were in addition helpful in segregating SPT from its close differentials. In four cases diagnosed as SPT on FNAC, histopathology revealed a different final diagnosis (one case each of paraganglioma, extragastrointestinal stromal tumor, metastatic papillary renal cell carcinoma and inflammatory myofibroblastic tumor). Conversely, one case of SPT had been erroneously diagnosed as neuroendocrine tumor on FNAC. Six cases (40%) developed metastasis; commonest site being liver. In conclusion, cytology in conjunction with clinico‐radiologic findings plays a key role in making a correct diagnosis. Awareness of unique cytomorphological features is important in distinguishing this tumor from its diverse mimics. Diagn. Cytopathol. 2013. © 2012 Wiley Periodicals, Inc.     

Next-generation sequencing for inborn errors of immunity

Inborn errors of immunity (IEIs) include several hundred gene defects affecting various components of the immune system. As with other constitutional disorders, next-generation sequencing (NGS) is a powerful tool for the diagnosis of these diseases. While NGS can provide molecular confirmation of disease in a patient with a suspected or classic phenotype, it can also identify new molecular defects of the immune system, expand gene-disease phenotypes, clarify mechanism of disease, pattern of inheritance or identify new gene-disease associations. Multiple clinical specialties are involved in the diagnosis and management of patients with IEI, and most have no formal genetic training or expertise. To effectively utilize NGS tools and data in clinical practice, it is relevant and pragmatic to obtain a modicum of knowledge about genetic terminology, the variety of platforms and tools available for high-throughput genomic analysis, the interpretation and implementation of such data in clinical practice. There is considerable variability not only in the technologies and analytical tools used for NGS but in the bioinformatics approach to variant identification and interpretation. The ability to provide a molecular basis for disease has the potential to alter therapeutic management and longer-term treatment of the disease, including developing personalized approaches with molecularly targeted therapies. This review is intended for the clinical specialist or diagnostic immunologist who works in the area of inborn errors of immunity, and provides an overview of the need for genetic testing in these patients (the “why” aspect), the various technologies and analytical approaches, bioinformatics tools, resources, and challenges (the “how” aspect), and the clinical evidence for identifying which patients might be best served by such testing (the “when” aspect).     

PET诊断结直肠癌复发价值及误诊原因的Meta分析

目的用Meta分析方法研究18^F-FDG PET在结直肠癌复发诊断中的价值，并探讨其主要的误诊原因。方法收集2007年2月8日前公开发表的关于PET对结直肠癌术后复发评估的所有中英文文献，对纳入文献进行方法学质量评估后，用统计软件计算综合灵敏度（Se）、特异性（Sp）、诊断优势比（DOR），并绘制综合受试者工作特征（SROC）曲线。结果共有19篇文献纳入。PET评价结直肠癌全身复发及转移的综合Se为89．5％[95％可信区间（CI）86.6％-92．0％]，综合Sp为78．3％（95％CI72．0％-83．8％）．综合DOR为28．114（95％CI12．120—65．216）；SROC曲线下面积为0．8857，Q^＊值为0．8163。结论18^F-FDG PET在结直肠癌术后复发诊断中有较高的价值。     

Cell refractive index: Models,insights, applications and future perspectives

Cell refractive index (RI) is an intrinsic optical parameter that governs the propagation of light (i.e., scattering and absorption) in the cell matrix. The RI of cell is sensitively correlated with its mass distribution and thereby has the capability to provide important insights for diverse biological models. Herein, we review the cell refractive index and the fundamental models for measurement of cell RI, summarize the published RI data of cell and cell organelles and discuss the associated insights. Illustrative applications of cell RI in cell biology are also outlined. Finally, future research trends and applications of cell RI, including novel imaging techniques, reshaping flow cytometry and microfluidic platforms for single cell manipulation are discussed. The rapid technological advances in optical imaging integrated with microfluidic regime seems to enable deeper understanding of subcellular dynamics with high spatio-temporal resolution in real time.     

生物组织光传播特性的研究

光在组织中传播与组织的光学性质有关。折射率是组织光学性质最基本的参数,用来评价组织改变光线行进方向的参量。本文以菲涅耳公式为理论依据,尝试用空气—组织界面的反射率、生物组织薄膜的反射率和生物组织反射光的偏振分量,推算生物组织的折射率。 本文还探测了组织的前向散射和后向漫射分布。     

Lack of association of MTHFR rs1801133 polymorphism and CTCFL mutations with sperm methylation errors in infertile patients

Purpose

To find out whether the MTHFR rs1801133 polymorphism is a risk factor for male infertility in the Spanish population. To determine if a pattern of sperm DNA hypomethylation at the paternally imprinted loci H19-ICR and/or IG-DMR is related to the MTHFR rs1801133 polymorphism and/or CTCFL mutations.

Methods

One hundred and seven samples from individuals who sought consultation for fertility problems and twenty-five semen samples from sperm donors were analyzed. The MTHFR rs1801133 SNP was analyzed in all samples by the PCR-RFLP method. We compared the distribution of the genotypes between control and infertile populations and among the groups of patients with altered seminal parameters. In those patients with the most severe hypomethylation pattern (n = 12) we also analyzed the CTCFL protein-coding exons by sequencing.

Results

There were no significant differences in the distribution of the genotypes among the control and infertile populations. Moreover, none of the genotypes were associated, neither to the characteristics of the seminogram, nor to the presence of sperm DNA hypomethylation. We did not identify frameshift, nonsense or missense mutations of the CTCFL gene.

Conclusions

The MTHFR rs1801133 polymorphism is not associated with male infertility in the Spanish population. Neither the MTHFR polymorphism, nor CTCFL mutations explain a pattern of sperm hypomethylation at paternally imprinting loci.

Electronic supplementary material

The online version of this article (doi:10.1007/s10815-013-0013-2) contains supplementary material, which is available to authorized users.     

结肠癌误诊为阑尾炎的临床分析

目的 探讨结肠癌被误诊为阑尾炎的原因及相应的预防对策.方法 回顾性分析2006年1月至2012年1月收治的被误诊为阑尾炎的15例结肠癌病例的临床资料.结果 15例结肠癌术前6例误诊为急性阑尾炎,6例误诊为慢性阑尾炎,3例误诊为阑尾周围脓肿.结肠癌确诊时间：术中8例、术后4例、术后延迟确诊3例,分别于术后1、3、4个月确诊.病理诊断明确后行一期右半结肠切除术8例,二期右半结肠切除术6例,二期右半结肠切除＋横结肠切除术1例.结论 以急性阑尾炎表现为首发症状的结肠癌鉴别诊断困难,术前、术中甚至术后均有可能出现误诊和漏诊.避免误诊、漏诊的首要措施是详细收集病史、仔细体格检查、做好鉴别诊断及术前相关辅助检查.对阑尾炎症状不典型或年龄超过45岁的患者,应按结肠癌的诊疗指南来执行,重视术前、术中和术后异常情况的追踪,警惕结肠癌的可能.     

甲下黑色素瘤误诊原因分析

目的 分析甲下黑色素瘤的误诊原因,探索其早期诊断依据.方法 总结8例甲下黑色素瘤患者的临床特征,分析误诊原因.结果 8例中误诊为其他指甲疾病并对应治疗(抗感染及抗真菌)6例(其中4例曾行拔甲,1例反复激光冷冻),误诊为血管瘤1例.7例于我院行跨关节截指术,病理均证实为甲下黑色素瘤.结论 临床表现多样、无黑色素性黑色素瘤的存在、局部活组织取材病理检查不充分以及病变初期的病理诊断困难,是导致甲下黑色素瘤误诊的常见原因.提高临床医生对该病的认知度和敏感度有助于早期诊治.     

桡骨头骨折合并下尺桡关节脱位损伤误诊误治2例报告

目的：分析桡骨头骨折合并下尺桡关节脱位(Essex-Lopresti损伤)误诊误治的原因并探讨合理治疗方法。方法：2008年至2009年治疗2例桡骨头骨折合并下尺桡关节脱位患者,均为男性,年龄分别为56岁、66岁。摔倒致肘部肿胀压痛、前臂旋转受限明显。X线示桡骨小头粉碎性骨折,Mason Ⅲ型1例、Ⅳ型1例。均行桡骨小头切除术,术后常规石膏固定对症处理。结果：2例均出现前臂旋转功能受限明显伴肘关节、下尺桡关节疼痛。X线示下尺桡关节分离明显,桡骨近端移位。结论：Essex-Lopresti损伤早期诊断治疗很重要。在不能有效修复重建骨间膜时,重建桡骨长度的同时对下尺桡关节复位固定是治疗的有效方法。     

A comparison of the use of refractive index (RI) and laser ablation inductively coupled plasma mass spectrometry (LA-ICP-MS) for the provenance establishment of glass bottles

The use of laser ablation inductively coupled plasma mass spectrometry (LA-ICP-MS) has been compared with the traditional method of refractive index (RI) measurement for the establishment of the provenance of glass bottles. Using the RI method alone, it is not possible to discriminate between certain glass bottles produced up to 18 days apart from a single manufacturing plant. Furthermore, variations in RI within a single bottle can be large enough to invalidate co-provenance establishment using this technique alone. Determination of the trace elemental composition of bottles collected over a 1-month period confirmed that minimal variation of trace metal distribution occurred within individual bottles made during this period. Therefore, the trace element composition of any fragment of glass from a broken bottle may be considered representative of the elemental composition of the entire bottle. In addition, statistical comparison of the distribution of approximately 38 of the 56 analytes that were determined established that it was possible to discriminate between two glass bottles manufactured in the same plant two hours apart. Using this methodology it has been possible to develop an analytical protocol to significantly improve the accurate comparison and provenance establishment of forensic glass evidence.