40例横纹肌肉瘤的病理分析

研究横纹肌肉瘤的形态学,阐明诊断和鉴别诊断。方法分析４０例横纹肌肉瘤的组织类型,形态和免疫组化,结果分为３种亚型,胎型横纹肌肉瘤２０例,含有星形、梭形和小圆形细胞形;腺泡状横纹肌肉瘤１６例,以小圆形细胞及中圆形细胞为主;多形性纹肌肉瘤４例,多为大圆形及中圆形细胞。全部肿瘤中,带状细胞,蝌蚪细胞及多核细胞占２７％,仅１例见到横纹。免疫组化阳性率分别为：Ｖｉｍｅｎｔｉｎ９２％,ｄｅｓｍｉｎ５３．３％,     

Spermatozoa in mice lacking the nucleoporin NUP210L show defects in head shape and motility but not in nuclear compaction or histone replacement

Biallelic loss-of-function mutation of NUP210L, encoding a testis-specific nucleoporin, has been reported in an infertile man whose spermatozoa show uncondensed heads and histone retention. Mice with a homozygous transgene intronic insertion in Nup210l were infertile but spermatozoa had condensed heads. Expression from this insertion allele is undefined, however, and residual NUP210L production could underlie the milder phenotype. To resolve this issue, we have created Nup210l^em1Mjmm, a null allele of Nup210l, in the mouse. Nup210l^em1Mjmm homozygotes show uniform mild anomalies of sperm head morphology and decreased motility, but nuclear compaction and histone removal appear unaffected. Thus, our mouse model does not support that NUP210L loss alone blocks spermatid nuclear compaction. Re-analyzing the patient's exome data, we identified a rare, potentially pathogenic, heterozygous variant in nucleoporin gene NUP153 (p.Pro485Leu), and showed that, in mouse and human, NUP210L and NUP153 colocalize at the caudal nuclear pole in elongating spermatids and spermatozoa. Unexpectedly, in round spermatids, NUP210L and NUP153 localisation differs between mouse (nucleoplasm) and human (nuclear periphery). Our data suggest two explanations for the increased phenotypic severity associated with NUP210L loss in human compared to mouse: a genetic variant in human NUP153 (p.Pro485Leu), and inter-species divergence in nuclear pore function in round spermatids.     

Primary spontaneous inguinal endometriosis: Two cases with emphasis on the diagnostic approach

ObjectiveWhile endometriosis is common, inguinal endometriosis with hernia is rarely observed, making its preoperative diagnosis challenging.Case reportWe report two cases of inguinal endometriosis with different presentations and focus on tailored surgical treatment. The two patients in our series presented with painful swelling in the right groin area. Surgery and pathological examination confirmed the diagnosis of endometriosis in both cases. Herniorrhaphy and excision of the extraperitoneal round ligament were performed in one patient with concomitant inguinal endometriosis and indirect inguinal hernia.ConclusionWe highlight the importance of the preoperative evaluation of concomitant pelvic endometriosis, round ligament involvement, and endometriosis within the inguinal hernia sac. Inguinal endometriosis with or without hernia should be considered even in reproductive-aged women without a previous medical and surgical history. Postoperative hormonal therapy, including dienogest, can be considered to prevent disease recurrence.     

Assessing testicular germ cell DNA damage in the comet assay; introduction of a proof-of-concept

The in vivo comet assay is widely used to measure genotoxicity; however, the current OECD test guideline (TG 489) does not recommend using the assay to assess testicular germ cells, due to the presence of testicular somatic cells. An adapted approach to specifically assess testicular germ cells within the comet assay is certainly warranted, considering regulatory needs for germ cell-specific genotoxicity data in relation to the increasing global production of and exposure to potentially hazardous chemicals. Here, we provide a proof-of-concept to selectively analyze round spermatids and primary spermatocytes, distinguishing them from other cells of the testicle. Utilizing the comet assay recordings of DNA content (total fluorescence intensity) and DNA damage (% tail intensity) of individual comets, we developed a framework to distinguish testicular cell populations based on differences in DNA content/ploidy and appearance. Haploid round spermatid comets are identified through (1) visual inspection of DNA content distributions, (2) setting DNA content thresholds, and (3) modeling DNA content distributions using a normal mixture distribution function. We also describe an approach to distinguish primary spermatocytes during comet scoring, based on their high DNA content and large physical size. Our concept allows both somatic and germ cells to be analyzed in the same animal, adding a versatile, sensitive, rapid, and resource-efficient assay to the limited genotoxicity assessment toolbox for germ cells. An adaptation of TG 489 facilitates accumulation of valuable information regarding distribution of substances to germ cells and their potential for inducing germ cell gene mutations and structural chromosomal aberrations.     

龙氏治脊手法结合圆利针斜刺治疗慢性腰肌劳损的临床研究

目的:明确龙氏治脊手法结合圆利针斜刺阿是穴对慢性腰肌劳损的临床疗效,探讨该综合疗法在临床中的应用前景。方法:采用前瞻性随机对照的方法,通过临床观察龙氏治脊手法结合圆利针斜刺阿是穴治疗慢性腰肌劳损前后临床症状积分、临床体征积分和中医伴随症状积分的变化,并以目前临床上常用的腰背部推拿+针灸阿是穴+拔罐、腰背部推拿+干扰电作为对照组进行比较。结果:采用龙氏治脊手法结合圆利针斜刺阿是穴的患者治疗后临床症状积分、临床体征积分均明显少于腰背部推拿+针灸阿是穴+拔罐、腰背部推拿+干扰电的患者,差异有统计学意义(P0.05);自身前后对比,龙氏治脊手法结合圆利针斜刺阿是穴组患者经治疗后临床症状积分、临床体征积分均较治疗前有明显降低,差异有统计学意义(P0.05),三组患者治疗前后中医伴随症状积分变化无统计学意义(P0.05)。结论:相对于传统外治法,龙氏治脊手法结合圆利针斜刺阿是穴能更好地改善慢性腰肌劳损的临床症状和体征。