Preimplantation genetic diagnosis: recent triumphs and remaining challenges

Over the last 20 years, preimplantation genetic diagnosis (PGD) has changed from being an experimental procedure to one that is carried out in specialized diagnostic centers worldwide. Genetic awareness and the rapid identification of germline mutations or chromosomal abnormalities enable individuals to know their risk of transmitting a genetic disease before they have children. This has created a demand for PGD from couples who wish to avoid terminations of affected pregnancies. Although PGD is expensive because it requires couples to go through IVF, there is a trend for diagnosis to move towards automation, which will reduce cost and the need for specialized expertise. This will allow diagnosis to be carried out in routine molecular diagnostic laboratories.     

Descriptive study of the differences in the level of the conus medullaris in four different age groups

In performing neuraxial procedures, knowledge of the location of the conus medullaris in patients of all ages is important. The aim of this study was to determine the location of conus medullaris in a sample of newborn/infant cadavers and sagittal MRIs of children, adolescents, and young adults. The subjects of both the samples were subdivided into four developmental stages. No statistical difference was seen between the three older age groups (P > 0.05). A significant difference was evident when the newborn/infant stage was compared with the other, older stages (P < 0.001 for all comparisons). In the newborn/infant group the spinal cord terminated most frequently at the level of L2/L3 (16%). In the childhood stage, the spinal cord terminated at the levels of T12/L1 and the lower third of L1 (21%). In the adolescent population, it was most often found at the level of the middle third of L1 and L1/L2 (19%). Finally, in the young adult group, the spinal cord terminated at the level of L1/L2 (25%). This study confirmed the different level of spinal cord termination between newborns/infants less than one‐year‐old and subjects older than one year. In this sample the conus medullaris was not found caudal to the L3 vertebral body, which is more cranial than the prescribed level of needle insertion recommended for lumbar neuraxial procedures. It is recommended that the exact level of spinal cord termination should be determined prior to attempting lumbar neuraxial procedures in newborns or infants. Clin. Anat. 28:638–644, 2015. © 2015 Wiley Periodicals, Inc.     

HIV阴性浆母细胞性淋巴瘤2例报道并文献复习

目的 探讨浆母细胞性淋巴瘤(PBL)的病因、诊断和鉴别诊断、治疗及预后.方法 对2009-2010年收治的2例HIV阴性PBL患者的临床资料进行回顾性分析,并复习国内外相关文献,总结临床诊治经验.结果 2例患者均诊断明确,HIV阴性,分别以淋巴结肿大和肋骨病变起病,均表现弥漫性大细胞淋巴瘤的形态学特征,同时表现出典型的浆细胞表型,免疫组化示CD38、CD138、CD79a阳性,低表达或不表达CD20、PAX-5.PET-CT均可见多部位(如淋巴结、骨骼)受累.CHOP样方案及ESHAP、IGVE等强化治疗方案的疗效不佳,缓解后复发快.2例患者从发病至死亡时间分别为2和7个月.结论 PBL罕见,恶性程度高,预后极差.患者对化疗药物的敏感性低,生存期短,目前此病尚无标准化疗方案.     

Degenerative trends of the palmaris longus muscle in a South African population

The literature reports that the palmaris longus muscle (PL) is only found in mammals in which the forelimbs are weight‐bearing extremities. It is suggested that the function of this muscle has been taken over by the other flexors in the forearm. Terms used in the literature to describe the diminishing of this muscle include retrogressive or phylogenetic degenerative trends. The aims of this study were to determine the prevalence of PL in a South African population and whether a phylogenetic degenerative trend for the PL exists. To determine the prevalence of the PL, five groups, representing different age intervals (Years 0–20, 21–40, 41–60, 61–80, and 81–99) were used. A sample of 706 participants of various ages was randomly selected. Statistical analysis included comparisons of the prevalence of the muscle between males and females and left and right sides, using a student t‐test. A Chi‐squared test was used to determine a possible phylogenetic degenerative trend of PL within the five groups. The sample yielded a bilateral absence of the PL in 11.9% of the cases. The muscle was unilaterally absent on the left side in 7.65% and 6.94% on the right side. The Chi‐squared tests revealed a P‐value of 0.27 for the left arm and 0.39 for the right arm. No obvious trend could be established for the phylogenetic degeneration of the PL in this study. It would appear that the PL muscle should not be considered as a phylogenetically degenerating muscle in a South African population. Clin. Anat. 27:222–226, 2014. © 2013 Wiley Periodicals, Inc.     

输尿管软镜积极治疗2cm以下肾结石伴复杂尿路感染

肾结石是泌尿外科的常见病之一,目前主要以内窥镜手术进行治疗。由于内窥镜手术本身技术原因,可能使肾盂内压力大幅度增加,从而导致尿液内感染源进入血循环,所以肾结石伴有尿路感染若治疗不当可能引起尿源性败血症,严重时可危及患者生命。根据既往报道和我们的经验,对于2cm以下肾结石伴有复杂尿路感染的患者可以考虑在敏感抗生素保护下,通过输尿管软镜技术更积极的清除结石和感染灶。但是这类手术具有一定风险,需要严格选择患者,且术后需要严密监测。     

慢性前列腺炎患者心理问题的分析与护理

目的:通过对慢性前列腺炎患者心理问题的分析,探讨如何提高慢性前列腺炎的治愈率及降低年内复发率.方法:150例慢性前列腺炎患者分为实验组与对照组,实验组采取常规治疗的同时通过访谈找出心理问题进行心理干预.结果:发现慢性前列腺炎患者多有不同程度的心理障碍,经治疗后治愈率提高25.3％、复发率降低26.7％.结论:采用常规治疗联合心理干预的患者治愈率明显提高,同时降低复发率.     

Alteration in membrane protein band 3 associated with accelerated erythrocyte aging.

We report a human band 3 alteration that is associated with anemia as determined by a reticulocyte count of 20%. Erythrocyte defects included increased IgG binding, increased breakdown products of band 3, and altered anion- and glucose-transport activity in middle-aged cells. These changes were observed during normal erythrocyte aging in situ. Binding of ankyrin to band 3 was normal. Serum/cell crossover studies indicated that a neoantigen appears on the propositus' erythrocytes to which IgG from both propositus and control serum binds as measured with a protein A binding assay. IgG eluted from the propositus' erythrocytes appeared to have a specificity for senescent cell antigen as determined by a phagocytosis inhibition assay. Immunoelectron microscopy showed that antibodies to band 3, which do not normally bind to intact erythrocytes, bound to the propositus' erythrocytes. Antibody 980 binds to normal old cells but not young or middle-aged cells. It also binds to a distinct region of band 3 in immunoblots of membranes from the propositus' middle-aged cells. Cells from both of the propositus' parents exhibited increased IgG binding and altered anion and glucose transport. The results of these studies suggest that (i) band 3 is aging prematurely in erythrocytes from the propositus, (ii) senescent cell antigen appears on the propositus' middle-aged red cells, and (iii) band 3 alterations observed in the propositus may have a genetic component.