疏肝解郁方加减治疗胸闷变异性哮喘临床经验总结

胸闷变异性哮喘(Chest Tightness Variant Asthma,CTVA)属于支气管哮喘类型中少见的一种特殊哮喘,其症状主要表现为胸闷,而无咳嗽、气喘、气促、喉中哮鸣声等典型哮喘表现,故临床常被误诊。西医治疗主要是吸入糖皮质激素,但临床应用效果差,其原因考虑CTVA与过敏无明显关系,主要与患者的情志有很大关系,使用中医治疗常可起到较为明显的治疗效果。临床中经过对多例胸闷性哮喘门诊病例的观察,发现使用疏肝解郁方加减临床疗效显著。     

Novel DCC variants in congenital mirror movements and evaluation of disease-associated missense variants

Congenital mirror movements (CMM) are involuntary movements of one side of the body that mirror intentional movements of the other side. Heterozygous missense, frameshift and nonsense variants and small intragenic deletions in DCC cause CMM, isolated agenesis of the corpus callosum (ACC) or both. We report here the clinical phenotype and natural history of ten individuals with CMM carrying five different monoallelic DCC variants, including the missense variant p.(Trp273Arg), two duplications, one deletion and one deletion-insertion; all are novel and absent from databases. We re-evaluated the 15 known disease-associated DCC missense variants by determining minor allele frequency (MAF) and pathogenicity using four in silico tools combining previous pathogenicity scores and the ACMG/AMP standards and guidelines and classified them in three groups. Group I contains three DCC missense variants that are rather unlikely to be associated with a higher risk to CMM and/or ACC. The five variants in group II may represent susceptibility factors to altered midline crossing in the central nervous system. Group III includes seven variants absent in publically available databases and representing possible pathogenic alleles, with four predicted to have a severe impact on protein function. Based on this data and the variable expressivity and incomplete penetrance present in heterozygous carriers of a DCC variant, classification and clinical interpretation of missense variants is challenging in the absence of evidence of pathogenicity originated from functional studies. Evaluation of missense variants by MAF and a weighted combination of several computational algorithms is recommended.     

Letter regarding the article: “Multiple HABP2 variants in familial papillary thyroid carcinoma: Contribution of a group of “thyroid-checked” controls” by Kern et al.

This Journal recently published a study (Kern et al., 2017) reporting the genetic analysis of the whole HABP2 gene in 11 independent kindreds with familial non medullary thyroid cancer (FNMTC). The Authors showed that a new variant (p.R122W) displayed a minor allele frequency (MAF) significantly higher in FNMTC patients than in controls (7.5 vs 0.73%, p = 0.016) and cosegregated with thyroid cancer in one kindred, thus suggesting the need for the evaluation of its possible pathogenicity in other series.We thus analyzed this new HABP2 p.R122W variant in our wide series of 32 unrelated FNMTC Italian kindreds. The variant was not found in any of the 72 affected and 12 not affected family members.In conclusion, the HABP2^R122W was not found in our wide series and it is thus unlikely to be causal to FNMTC. We therefore suggest that careful replication studies should be performed when assessing the possible association between FNMTC risk and any HABP2 variant.     

基于共有峰率和变异峰率双指标序列分析法的芡实红外指纹图谱研究

目的:建立不同产地芡实的红外指纹图谱。方法:利用共有峰率和变异峰率2个指标,以不同产地芡实的红外指纹图谱为标准,计算出17个样品间的共有峰率和变异峰率,按照其大小建立了不同的共有峰率和变异峰率双指标序列分析法,研究各产地芡实的异同。结果:产地相近的S13与S12、S14之间,S2与S3之间有很高的共有峰率(均不低于82.4%)和很低的变异峰率(均不超过21.4%);产地不同但品种一致的S9与S1、S15之间,S4与S6之间有不高的共有峰率(均不超过52.4%)和不低的变异峰率(均不低于33.3%);地理位置相距较远的S16与S8、S6之间,S17与S4、S8之间有较低的共有峰率(均不超过47.6%)和较高的变异峰率(均不低于50.0%);产地不同且采收期较近,造成了S10与其他产地样品相比有着极低的共有峰率(均不超过35.7%)和极高的变异峰率(几乎均高于100%)。结论:双指标序列分析法结合红外指纹图谱能够指导判别不同产地的芡实,简便、快捷,可为芡实等水生植物药材的质量评价提供一种新方法。     

Recognizing the advantage of employing the PowerPlex® ESI and PowerPlex® ESX complementary kits for purposes of clarification in routine casework

In an effort to promote European cross-border cooperation in fighting crime and international terrorism the Treaty of Prüm was drafted and accepted within the European forensic community. This move led to the commercial development of new multiplex kits which introduced five new STR loci and promised better performance. Recently the Israel Police DNA Casework and Database laboratories adopted the PowerPlex^® ESI kit for routine use in our laboratories. Presented in this paper are examples of three types of ambiguous results encountered during the implementation of the PowerPlex^® ESI kit into routine work. These ambiguous products presented themselves in the form of (1) extreme variants outside of loci borders, (2) failure to amplify sister allele pairs or expression of null alleles and (3) episodes of loss of separation of adjacent microvariants primarily in mixture samples. The re-analysis of all these samples using the PowerPlex^® ESX kit successfully and rapidly clarified all three categories of anomalies.Spotlighting such events to the forensic community, especially regarding the novel loci introduced in these next generation kits, can aid in raising the analyst's awareness to their future appearances and prevent possible erroneous conclusions. In addition, providing timely DNA results to investigating teams is of great importance and operational forensic laboratories do not have at their immediate disposal methods such as sequencing to elucidate such manifestations. We suggest that the complementary use of the PowerPlex^® ESI and PowerPlex^® ESX can provide a benefit for clarification purposes in routine casework.     

高压氧对异体骨植骨愈合的疗效评价

目的研究高压氧治疗对异体骨植骨术后骨愈合的临床价值。方法将99例骨肿瘤进行异体骨植骨手术的患者分成2组，高压氧组41例，采用异体骨植骨＋高压氧治疗；对照组58例，采用单纯异体骨植骨。观察2组术后切口的炎症反应、肿胀消退时间、引流量，并利用X线片观察骨折线模糊时间、消失时间及骨密度变化情况。结果平均随访20个月，高压氧组切口的炎症反应明显减轻，肿胀消退时间减少了2d，引流量减少约28％，骨折愈合提前了约3个月，两组结果比较差异有统计学意义（P〈0．01）。结论高压氧治疗可以明显地减轻异体骨植骨术后组织的炎症反应，减少出血及感染，促进了骨愈合，减少了术后并发症的发生，有较好的应用前景。     

一起由新甲1型流感病毒变种引起的流感爆发

本文报告1986年4月成都某大学的一起流感爆发,学生中罹患率高达28％,流行高峰在4天以内。从32份急性期流感病人咽漱液标本中共分离出三株病毒。经病毒学鉴定和患者双份血清的血清学试验证实,此新分离的三株病毒均属新甲1型流感病毒的变种,其抗原性与我国北方正在流行的A1/青防85-42相似。提示新甲1型流感病毒的变种在我国已由北向南传播。