急性淋巴细胞白血病(上)

急性淋巴细胞白血病是淋巴前体细胞异常引起的恶性疾病,儿童与成人均可能发生。儿童发病高峰2～5岁。有效治疗的稳步进展使本病在儿童中的治愈率80％以上,同时为新的治疗方案提供了良机,新方案将保留我们在白血病无病生存病例中获得的治疗经验,同时减轻当前强化治疗方案中的毒副作用。     

A locus for autosomal dominant anterior polar cataract on chromosome 17p

Inherited cataract is a clinically and genetically heterogeneous disease. Here we report the identification of a new locus for an autosomal dominant anterior polar cataract on the short arm of chromosome 17. To map this new locus we performed genetic linkage analysis with microsatellite markers in a four-generation pedigree. After exclusion of seven candidate loci for cataract, we obtained significant positive LOD scores for markers D17S849 (Z = 4.01 / theta = 0.05) and D17S796 (Z = 4.17 / theta = 0.05). Multipoint analysis gave a maximum LOD score of 5.2 (theta max = 0.06) between these two markers. From haplotype analysis, the cataract locus lies in the 13 cM interval between markers D17S849 and D17S796. This study provides the first genetic mapping of an autosomal dominant anterior polar cataract.      

Cytogenetic aberrations in myelodysplastic syndrome detected by comparative genomic hybridization and fluorescence in situ hybridization.

Conventional cytogenetics (CC) is proven as a diagnostic and prognostic factor in myelodysplastic syndrome (MDS). However, CC may be hampered by insufficient metaphase preparation and cannot analyze interphase nuclei. These problems are solved by using comparative genomic hybridization (CGH). The CGH was applied to samples from 45 patients with MDS, and the results were compared with CC and fluorescence in situ hybridization (FISH). The CC detected aberrations in 12 of 45 samples, including chromosomes 3 (n = 1), 5 (n = 9), 7 (n = 2),8(n = 1), 18(n = 1),21 (n = 1), X (n = 1), and Y(n = 2). In one patient, loss of B and C group chromosomes and a marker chromosome were seen. The CGH revealed chromosomal imbalances in 18 of 45 samples, including chromosomes 5 (n = 11), 7 (n = 2), 8 (n = 1), 18(n = 1), 20(n = 1), 21 (n = 1), X (n = 1), and Y (n = 2). All unbalanced aberrations found by CC were detected by CGH, too. In two patients, the CGH found additional aberrations and redefined the aberrations of the chromosomes of the B and C group in one sample. The FISH confirmed these aberrations. Additionally performed FISH for chromosomes 5, 7, and 8 gave normal findings in all patients found to be normal in CC and CGH. The CGH and FISH confirmed the results obtained by CC. All three techniques showed changes of chromosomes 5 and 7 as the most frequent aberrations, emphasizing the importance of these chromosomes in the development of MDS. Furthermore, the CC is proven as the basic technique for cytogenetic evaluation of MDS.     

The double puncture: an effective percutaneous technique for removing complex, multiple renal calculi

Percutaneous nephrostolithotomy, which can require a double puncture, is presently the method of choice in our institution for the removal of renal stones. Patients that underwent this procedure were evaluated to identify the possible reasons for the double puncture. Of 200 patients evaluated, 14 needed a second tract. The three variables that determined whether a second puncture was needed, in order of importance, were number and size of the stones, with second tracts needed in patients with multiple stones and staghorn calculi; anatomical variations of the renal collecting system itself, with bifid systems the most significant anatomic variation; and the dexterity of the radiologist in performing the puncture and the ability of the urologist to extract the stone. Second tracts were needed more frequently in patients who presented with stones in both the lower and middle poles of the collecting systems.     

言语流畅的测量及其神经生理基础

目的:介绍言语流畅性的测量工具,考察言语流畅性与记忆之间的关系,探讨言语流畅性的神经生理基础。资料来源:应用计算机检索Sciencedirect 1975-07/2005-05中与言语流畅性相关的文献,检索词为“verbal fluency”,限定文章语言种类为英文。资料选择:对资料进行初审,选取文章标题中含有“verbal fluency”的英文文献。纳入标准:①对言语流畅性测量任务的研究。②对言语流畅性与记忆的研究。③对言语流畅性神经生理基础的研究。资料提炼:共收集到651篇关于言语流畅性的文章,纳入30篇用于本综述。资料综合:测量言语流畅性的任务主要分为简单任务(包括音位流畅性任务和语义流畅性任务)与复杂任务(包括可能工作、替代使用、草拟、推断、物品制作以及新的使用方法等)。言语流畅性任务的完成主要涉及到记忆搜索的过程,另外,精细组织的语义网络系统对于言语流畅性任务来说也是非常重要的。言语流畅性的神经生理基础包括了总体基础,前额叶,海马以及大脑两半球的不对称性。结论:言语流畅性作为人类语言基本技能的一项指标,对语言认知研究具有极其重要的意义。它不仅是神经心理研究的一项非常重要的检测和诊断指标,也是一种研究人类心理的非常有用的研究工具,是探索人类语言与认知、创造之迷进而探索人类意识之迷的钥匙。     

Glucocorticoids are not always deleterious for bone

A 23‐year‐old man with the rare sclerosing bone disorder van Buchem disease presented with progressively worsening headaches that eventually became persistent and associated with papilledema. Increased intracranial pressure was diagnosed, and the patient had a ventriculoperitoneal drain inserted as well as simultaneously receiving treatment with prednisone. Before starting treatment, there was biochemical evidence for increased bone turnover and for steady increases in bone mineral density (BMD) at the spine and total hip despite the patient having reached his peak height of 197 cm at the age of 19 years. Treatment with prednisone for 2 years resulted in biochemical and histologic suppression of bone formation as well as of bone resorption and arrest of further bone accumulation. Our data suggest that glucocorticoids (GCs) may represent an attractive alternative to the high‐risk surgical approaches used in the management of patients with progressive sclerosing bone disorders. Our findings also suggest that whereas sclerostin may not be required for the action of GCs on bone formation, it may well be important for the action of GCs on bone resorption. The exact mechanism by which sclerostin may be involved in the regulation of bone resorption is as yet to be explored. © 2010 American Society for Bone and Mineral Research.     

LOX family enzymes expression in vaginal tissue of premenopausal women with severe pelvic organ prolapse

Introduction and Hypothesis  

The extracellular matrix proteins collagen and elastin provide tissue strength and resilience, whereas lysyl oxidase enzymes play a major role in their stabilization. This study examines the expression and tissue localization of lysyl oxidase family proteins in the anterior vaginal wall of premenopausal women with advanced pelvic organ prolapse (POP, n = 15) and asymptomatic controls (n = 11). All women were in the proliferative phase of menstrual cycle.