Prader-Willi综合征体温不稳定1例报告

目的探讨Prader-Willi综合征(PWS)体温不稳定的临床特点。方法回顾性分析1例PWS患儿住院期间反复发热的临床特点。结果 5个月男婴,有中枢性肌张力低下、吸吮无力、喂养困难、隐睾、皮肤白皙等表现,经染色体微阵列检查及甲基化特异性PCR检测确诊为PWS。患儿病程中反复发热,但病原菌培养及病毒抗体检测均阴性,且退热、抗感染与免疫支持治疗无效。结论患儿发热原因不明,考虑中枢性发热可能。体温不稳定是否为PWS患儿的临床特征还需大量的临床研究明确。     

Microsatellite instability in gallbladder carcinoma: two independent genetic pathways of gallbladder carcinogenesis

Although the genetic basis for gallbladder carcinogenesis has not been clarified, considerable evidence has shown that genetic alterations play an important role in the development and progression of human cancers. In this study, we analyzed 30 gallbladder carcinomas to investigate the role of genetic alterations in their tumorigenesis, and to study correlations with their clinicopathological features. Tissue samples were obtained from 30 patients with gallbladder carcinoma (11 men and 19 women; mean age, 62 years; age range, 38–80 years). Genomic DNAs were extracted from fresh tumor tissue. We examined loss of heterozygosity (LOH) in the p53, APC, DCC, RB, and NM23-H1 gene regions by polymerase chain reaction (PCR)-LOH assay using an automated fluorescent DNA sequencer employing four microsatellite markers (p53, APC, DCC, NM23-H1). Five additional microsatellite markers were used for the determination of microsatellite instability (MSI). LOH was found at p53 in 9 of 15 informative cases (60%), at DCC in 10 of 22 (45%), at APC in 5 of 15 (33%), at RB in 1 of 8 (13%), and at NM23-H1 in 1 of 15 (7%). MSI was observed in 5 of 30 cases (17%) in at least one chromosomal loci of these nine microsatellite markers. None of the patients with MSI-positive tumors showed lymph node metastasis, and there was an inverse correlation between MSI and the presence of LOH in gallbladder carcinoma. These results suggest that there are two independent genetic pathways in gallbladder carcinogenesis; that is, an MSI pathway and an LOH pathway. Received: December 24, 1999 / Accepted: May 26, 2000     

Complications after arthroscopic labral repair for shoulder instability

Arthroscopic labral repair is a widely performed and safe technique for anterior or posterior shoulder instability; however, complications have been reported in the literature. Postoperative injection of local anesthetic via an intra-articular pain pump should be avoided to prevent chondrolysis of the glenohumeral joint. Postoperative stiffness of the shoulder can be treated with physiotherapy, and a surgical treatment is indicated in shoulders that failed a conservative treatment. Although nerve injury is relatively rare, the axillary nerve should be given careful attention. Recurrent shoulder instability is the most common complication after labral repair, but most reported rates of recurrent instability after arthroscopic Bankart repair are less than 10 %. Augmentations, such as rotator interval closure and Hill-Sachs remplissage, have a potential to reduce the rate of recurrence. A better understanding of these possible complications, including their pathology and treatment, is essential for optimization of outcomes after arthroscopic labral repair.     

The dual mobility liner: Is it ready for prime time?

Hip instability remains a pressing complication in primary and particularly revision hip arthroplasty. Dual mobility liners were introduced to combat this very issue in the mid 1970s. Initial concerns with the first generation technology concerning wear and intra-prosthetic dislocation has led to improvements in its development. Second generation technology has since been utilized and long-term studies have provided encouraging results. Dual mobility liners are very powerful, but not end all, solution to the issue of post-operative hip instability and can be a powerful tool when used.     

The causes and management of hip instability: An algorithmic approach

Instability or dislocation after total hip arthroplasty continues to be one of the most prevalent complications and modes of failure of this largely successful operation. The purpose of this article is to describe a systematic algorithm for evaluation and treatment of the unstable total hip arthroplasty as well as review current literature and controversies surrounding the dislocating total hip arthroplasty.     

Instability of Trinucleotidic Repeats During Chromatin Remodeling in Spermatids

Transient DNA breaks and evidence of DNA damage response have recently been reported during the chromatin remodeling process in haploid spermatids, creating a potential window of enhanced genetic instability. We used flow cytometry to achieve separation of differentiating spermatids into four highly purified populations using transgenic mice harboring 160 CAG repeats within exon 1 of the human Huntington disease gene (HTT). Trinucleotic repeat expansion was found to occur immediately following the chromatin remodeling steps, confirming the genetic instability of the process and pointing to the origin of paternal anticipation observed in some trinucleotidic repeats diseases.     

关节镜下臀肌挛缩松解术治疗髌股关节不稳定的疗效分析

目的 探讨关节镜下臀肌挛缩松解术对改善髌股关节不稳定的疗效。方法 选取了66例在2016年1月—2018年12月于同济大学附属第十人民医院行关节镜下臀肌挛缩松解术的患者,所选的研究对象术前必须伴有髌股关节不稳定的症状和相关影像学证据。并于术前术后评估患者的膝关节Lysholm功能评分,运用CT检查获取髌股关节相关指标并进行统计分析。结果 所有入组患者均获得了较好的临床效果,术前的髋关节活动弹响和异常姿势症状明显改善。此外,术后患者膝关节的疼痛也有显著的缓解,术前术后的Lysholm评分差异有统计学意义（P<0.05）。在膝关节CT影像学的对比中可以发现,髌骨倾斜角,髌股指数和髌骨外移度指标在术后明显减小（P<0.05）。平均的外侧髌股角术后明显增大(P<0.05)。结论 关节镜下臀肌挛缩松解术可以显著改善髌骨的外移和倾斜,从而增强髌股关节的稳定性。     

Telomere dysfunction accurately predicts clinical outcome in chronic lymphocytic leukaemia,even in patients with early stage disease

Defining the prognosis of individual cancer sufferers remains a significant clinical challenge. Here we assessed the ability of high‐resolution single telomere length analysis (STELA), combined with an experimentally derived definition of telomere dysfunction, to predict the clinical outcome of patients with chronic lymphocytic leukaemia (CLL). We defined the upper telomere length threshold at which telomere fusions occur and then used the mean of the telomere ‘fusogenic’ range as a prognostic tool. Patients with telomeres within the fusogenic range had a significantly shorter overall survival (P < 0·0001; Hazard ratio [HR] = 13·2, 95% confidence interval [CI] = 11·6–106·4) and this was preserved in early‐stage disease patients (P < 0·0001, HR=19·3, 95% CI = 17·8–802·5). Indeed, our assay allowed the accurate stratification of Binet stage A patients into those with indolent disease (91% survival at 10 years) and those with poor prognosis (13% survival at 10 years). Furthermore, patients with telomeres above the fusogenic mean showed superior prognosis regardless of their IGHV mutation status or cytogenetic risk group. In keeping with this finding, telomere dysfunction was the dominant variable in multivariate analysis. Taken together, this study provides compelling evidence for the use of high‐resolution telomere length analysis coupled with a definition of telomere dysfunction in the prognostic assessment of CLL.