乳腺癌术后上皮样血管肉瘤一例

患者女,70岁。因左上臂肿物8个月,于2005年7月15日入院。患者于1995年11月曾行左乳腺癌根治术,术后应用直线加速器放射治疗5周,化疗4个疗程。1999年春天开始左上臂肿胀,8个月前发现左上臂出现鸡蛋大肿物,无疼痛不适感,后肿物逐渐增大。体检:左上臂尺侧有一6cm×6cm×5cm 大小肿物,质韧,边界较清,表面光滑,活动度差。B 超:左上臂内侧软组织内探及一7cm×6cm×5cm 的实性低回声团块,边界清晰,内回声不均质,并可见多个小囊状液性回声区,肿块内及周边血流较丰富。术中见肿物约10cm×8cm×6cm 大小,张力大,切面呈蜂窝样,有血性液体溢出。     

髂腹股沟入路切断髂腰肌治疗髋臼骨折对术后髋关节功能的影响

目的:评价切断髂腰肌的髂腹股沟入路治疗髋臼骨折对髋关节功能的影响,探讨切断髂腰肌治疗髋臼骨折的可行性.方法:(1)选取本院解剖学教研室成年尸体标本4具,共8条完整髂腰肌标本,观察其腹股沟韧带下方部分的大体形态,肌、腱比例及切断前后显露的范围.(2)采用髂腹股沟入路治疗髋臼骨折13例,其中7例保留髂腰肌的完整性(Ⅰ组),6例切断髂腰肌(Ⅱ组),分别于术后1月、2月及6月评估屈髋肌力及术后并发症.结果:(1)髂腰肌在腹股沟韧带下方为肌、腱混杂结构,腱、肌比例平均1∶4.1,切断髂腰肌后显露范围明显扩大.(2)术后1个月Ⅱ组屈髋肌力较Ⅰ组差(P＜0.01);术后2个月两组肌力均恢复至4级以上,组间差异无统计学意义(P＞0.05);术后6个月所有患者屈髋肌力基本恢复正常.除1例髂腰肌切断患者术后并发下肢深静脉血栓形成外,其余患者无并发症.结论:切断髂腰肌对髋关节功能的影响是短暂而有限的;使用髂腹股沟入路处理髋臼骨折时,切断髂腰肌有利于骨折的显露及复位.     

Novel bi-allelic variants in DNAH2 cause severe asthenoteratozoospermia with multiple morphological abnormalities of the flagella

Research questionMultiple morphological abnormalities of the flagella (MMAF) is characterized by excessive immotile spermatozoa with severe flagellar abnormalities in the ejaculate. Previous studies have reported a heterogeneous genetic profile associated with MMAF. What other genetic variants might explain the cause of MMAF?DesignWhole-exome sequencing was conducted in a cohort of 90 Chinese patients with MMAF. The pathogenicity of identified mutations was assessed through electron microscopy and immunofluorescent examinations.ResultsThree unrelated men with bi-allelic DNAH2 variants were identified. Sanger sequencing verified that the six novel variants originated from every parent. All these variants were located at the conserved domains of DNAH2 and predicted to be deleterious by bioinformatic tools. Haematoxylin and eosin staining and scanning electron microscopy revealed that spermatozoa harbouring DNAH2 variants displayed severely aberrant morphology mainly with absent and short flagella (≥78%). Moreover, transmission electron microscopy revealed the obvious absence of a central pair of microtubules and inner dynein arms in the spermatozoa with mutated DNAH2. Immunofluorescence data further validated these findings, showing reduced DNAH2 protein expression in the spermatozoa with DNAH2 variants, compared with normal spermatozoa. Intracytoplasmic sperm injection using spermatozoa from the three men with mutated DNAH2 resulted in blastocyst formation in all cases. Embryo transfer was carried out in two couples, both resulting in clinical pregnancy.ConclusionsThese experimental and clinical data suggest that bi-allelic DNAH2 variants might induce MMAF-associated asthenoteratozoospermia, which can be overcome through intracytoplasmic sperm injection. These findings contribute to the knowledge of the genetic landscape of asthenoteratozoospermia and clinical counselling of male infertility.     

Aging attenuates the ovarian circadian rhythm

ObjectiveTo study the effect of aging on ovarian circadian rhythm.DesignHuman and animal study.SettingUniversity hospital and research laboratory.Patients/animalsHuman granulosa cells were obtained by follicular aspiration from women undergoing in vitro fertilization (IVF), and ovarian and liver tissues were obtained from female C57BL/6 mice.Intervention(s)None.Main outcome measure(s)Expression of circadian genes in young and older human granulosa cells and circadian rhythm in ovaries and livers of young and older mice.Result(s)All examined circadian clock genes in human granulosa cells showed a downward trend in expression with aging, and their mRNA expression levels were negatively correlated with age (P < 0.05). Older patients (≥ 40 years of age) had significantly reduced serum anti-Müllerian hormone (AMH) levels. Except for Rev-erbα, all other examined circadian clock genes were positively correlated with the level of AMH (P < 0.05). The circadian rhythm in the ovaries of older mice (8 months) was changed significantly relative to that in ovaries of young mice (12 weeks), although the circadian rhythm in the livers of older mice was basically consistent with that of young mice.Conclusion(s)Lower ovarian reserve in older women is partially due to ovarian circadian dysrhythmia as a result of aging.Electronic supplementary materialThe online version of this article (10.1007/s10815-020-01943-y) contains supplementary material, which is available to authorized users.     

Characterization of lipopeptide produced by Bacillus altitudinis Q7 and inhibitory effect on Alternaria alternata

This study identified the antifungal metabolites produced by Bacillus altitudinis Q7 against Alternaria alternata and investigated the antifungal activity and antifungal action. Lipopeptide, the important secondary metabolites were identified by Fourier transform infrared (FTIR) and liquid chromatography-mass spectrometry as lichenysin. The antifungal activity of lipopeptide on A. alternata was determined by microdilution technique, and its minimum inhibitory concentration was 1.2 mg/ml. Stability test showed that lipopeptide had excellent temperature and pH resistance. To investigate whether lichenysin acted on the cell membrane and changed its permeability, the ultra-violet absorption of protein and nucleic acid were measured using a colorimetric method. The antifungal metabolites produced by B. altitudinis Q7 was lichenysin, which showed stable antifungal activity in the extreme environments. Lichenysin could inhibit A. alternata by altering the permeability of cell membrane, leading to the outflow of proteins and nucleic acids from the cytoplasm. This research suggests the lipopeptide from B. altitudinis Q7 is a potential biological control agent against A. alternata.     

淋巴瘤累及胃结肠韧带的CT表现

目的 探讨非霍奇金氏淋巴瘤（non-Hodgkin’s lymphoma,NHL）累及胃结肠韧带（gastrocolic ligament,GCL）的CT表现及其解剖学基础。方法 回顾性分析26例经病理确诊的累及GCL的NHL病例,着重观察GCL的CT表现。结果 GCL受累主要表现为GCL内淋巴结增大,增大淋巴结呈散在分布,未见淋巴结融合。增大淋巴结表现为均匀强化者25例,均匀强化合并环状强化者1例。有2例显示GCL增厚、局部呈饼状改变,伴有腹腔积液。结论 熟悉GCL影像解剖学特点有助于累及GCL的NHL的CT诊断。     

Analysis of synonymous codon usage in porcine reproductive and respiratory syndrome virus

In this study, we calculated the relative synonymous codon usage (RSCU) values and codon usage bias (CUB) values to implement a comparative analysis of codon usage pattern of open reading frames (ORFs) which belong to the two main genotypes of porcine reproductive and respiratory syndrome virus (PRRSV). By analysis of synonymous codon usage values in each ORF of PRRSV, the optimal codons for most amino acids were all C or G-ended codons except GAU for Asp, CAU for His, UUU for Phe and CCU for Pro. The synonymous codon usage patterns in different ORFs of PRRSV were different and genetically conserved. Among them, ORF1a, ORF4, ORF5 and ORF7 could cluster these strains into the two main serotypes (EU and US). Due to mutational pressure, compositional constraint played an important role in shaping the synonymous codon usage pattern in different ORFs, and the synonymous codon usage diversity in ORFs was correlated with gene function. The degree of CUB for some particular amino acids under strong selection pressure probably served as a potential genetic marker for each ORF in PRRSV. However, gene length and translational selection in nature had no effect on the synonymous codon usage pattern in PRRSV. These conclusions could not only offer an insight into the synonymous codon usage pattern and differentiation of gene function, but also assist in understanding the discrepancy of evolution among ORFs in PRRSV.