采用包皮环切缝合器与商环行包皮环切术的疗效比较

目的：比较采用一次性包皮环切缝合器与商环行包皮环切术治疗包皮过长或包茎的临床疗效。方法回顾性分析采用一次性包皮环切缝合器手术及商环包皮环切吻合器手术各112例患者的临床资料,比较两种术式的手术时间、术中出血量、术后并发症等指标。结果一次性包皮环切缝合器与商环包皮环切吻合器的手术时间分别为（6．1±0．8）min、（6．5±1．7）min;术中出血量分别为（2．0±0．0）mL、（1．0±0．0）mL;两组间差异比较无统计学意义（P ＞0．05）。而两组的术后并发症上切口疼痛的发生率分别为21.43％、50.89％;术后血肿的发生率分别为14．29％、6．25％;系带区切口水肿发生率分别为8．04％、25.89％;愈合时间分别为（8．0±1．7）d、（14．0±1．2）d;以上差异均有统计学意义（P ＜0．05）。结论两种手术方式各有优缺点,在术式选择前应向患者作详细说明,建议学龄期小儿患者选用商环内环内置法,而青春期男性及成人患者可选择一次性包皮环切缝合器环切术。     

15号环状染色体患者的细胞分子遗传学研究

目的:明确1例生长发育迟缓患者的遗传学病因。方法:收集患者的症状、体征等临床资料,常规应用G和C显带分析患者及父母外周血染色体,然后采用单核苷酸微阵列(single nucleotide polymorphisms array, SNP-array)技术进一步确诊,并采用荧光定量PCR(fluorescence qua...     

The Polycomb group protein RING1B is overexpressed in ductal breast carcinoma and is required to sustain FAK steady state levels in breast cancer epithelial cells

In early stages of metastasis malignant cells must acquire phenotypic changes to enhance their migratory behavior and their ability to breach the matrix surrounding tumors and blood vessel walls. Epigenetic regulation of gene expression allows the acquisition of these features that, once tumoral cells have escape from the primary tumor, can be reverted. Here we report that the expression of the Polycomb epigenetic repressor Ring1B is enhanced in tumoral cells that invade the stroma in human ductal breast carcinoma and its expression is coincident with that of Fak in these tumors. Ring1B knockdown in breast cancer cell lines revealed that Ring1B is required to sustain Fak expression in basal conditions as well as in Tgfβ-treated cells. Functionally, endogenous Ring1B is required for cell migration and invasion in vitro and for in vivo invasion of the mammary fat pad by tumoral cells. Finally we identify p63 as a target of Ring1B to regulate Fak expression: Ring1B depletion results in enhanced p63 expression, which in turns represses Fak expression. Importantly, Fak downregulation upon Ring1B depletion is dependent on p63 expression. Our findings provide new insights in the biology of the breast carcinoma and open new avenues for breast cancer prognosis and therapy.     

普通包皮环切术与包皮环切器包皮切除术的临床对比研究

目的:对比研究普通包皮环切术与包皮环切器包皮环切术的临床疗效。方法:选取2013年1月至2015年1月我院收治的包茎或包皮过长的患者248例作为本次研究的对象,将之随机分成环切器组和普通组,对两组患者的相关指标、并发症及疗效等进行比对分析。结果:环切器组的手术时间、术中及术后出血量均要显著少于普通组(P0.05),且手术费用较低,伤口愈合较快,患者术后疼痛较轻,满意度较高,与普通组相比差异均十分显著(P0.05);两组并发症发生率差异主要体现在感染方面,环切组均要显著低于普通组(P0.05),且普通组总发生率要更高(P0.05),具有统计学意义。结论:包皮环切器包皮环切术具有微创的特点,其疗效较佳,并发症发生率低,易于被患者接受,值得在临床上推广使用。     

Harnessing the cyclization strategy for new drug discovery

The design of new ligands with high affinity and specificity against the targets of interest has been a central focus in drug discovery. As one of the most commonly used methods in drug discovery, the cyclization represents a feasible strategy to identify new lead compounds by increasing structural novelty, scaffold diversity and complexity. Such strategy could also be potentially used for the follow-on drug discovery without patent infringement. In recent years, the cyclization strategy has witnessed great success in the discovery of new lead compounds against different targets for treating various diseases. Herein, we first briefly summarize the use of the cyclization strategy in the discovery of new small-molecule lead compounds, including the proteolysis targeting chimeras (PROTAC) molecules. Particularly, we focus on four main strategies including fused ring cyclization, chain cyclization, spirocyclization and macrocyclization and highlight the use of the cyclization strategy in lead generation. Finally, the challenges including the synthetic intractability, relatively poor pharmacokinetics (PK) profiles and the absence of the structural information for rational structure-based cyclization are also briefly discussed. We hope this review, not exhaustive, could provide a timely overview on the cyclization strategy for the discovery of new lead compounds.     

Consensus recommendations on counselling in Phelan-McDermid syndrome,with special attention to recurrence risk and to ring chromosome 22

This paper focuses on genetic counselling in Phelan-McDermid syndrome (PMS), a rare neurodevelopmental disorder caused by a deletion 22q13.3 or a pathogenic variant in SHANK3. It is one of a series of papers written by the European PMS consortium as a consensus guideline. We reviewed the available literature based on pre-set questions to formulate recommendations on counselling, diagnostic work-up and surveillance for tumours related to ring chromosome 22. All recommendations were approved by the consortium, which consists of professionals and patient representatives, using a voting procedure. PMS can only rarely be diagnosed based solely on clinical features and requires confirmation via genetic testing. In most cases, the family will be referred to a clinical geneticist for counselling after the genetic diagnosis has been made. Family members will be investigated and, if indicated, the chance of recurrence discussed with them. Most individuals with PMS have a de novo deletion or a pathogenic variant of SHANK3. The 22q13.3 deletion can be a simple deletion, a ring chromosome 22, or the result of a parental balanced chromosomal anomaly, influencing the risk of recurrence. Individuals with a ring chromosome 22 have an increased risk of NF2-related schwannomatosis (formerly neurofibromatosis type 2) and atypical teratoid rhabdoid tumours, which are associated with the tumour-suppressor genes NF2 and SMARCB1, respectively, and both genes are located on chromosome 22. The prevalence of PMS due to a ring chromosome 22 is estimated to be 10–20%. The risk of developing a tumour in an individual with a ring chromosome 22 can be calculated as 2–4%. However, those individuals who do develop tumours often have multiple. We recommend referring all individuals with PMS and their parents to a clinical geneticist or a comparably experienced medical specialist for genetic counselling, further genetic testing, follow-up and discussion of prenatal diagnostic testing in subsequent pregnancies. We also recommend karyotyping to diagnose or exclude a ring chromosome 22 in individuals with a deletion 22q13.3 detected by molecular tests. If a ring chromosome 22 is found, we recommend discussing personalised follow-up for NF2-related tumours and specifically cerebral imaging between the age of 14 and 16 years.     

Vaginal pessaries for the management of pelvic organ prolapse

Pelvic organ prolapse (POP) is a common condition and is thought to affect approximately 40% of women over the age of 40, with prevalence increasing with age. Although POP is not usually associated with mortality, it can significantly impact quality of life. Management of POP includes, the option of no treatment, conservative and lifestyle management, pessary management or surgery. Options for management should take into consideration the woman's preference, the site of prolapse, lifestyle factors, comorbidities, age, desire for childbearing, previous surgery and whether the patient is sexually active. The risks and benefits of each option should be discussed, and women should be included in decision making. Vaginal pessaries are intravaginal devices that aim to restore prolapsed vaginal compartments to a normal position with aim to relieve symptoms. There are a wide variety of pessaries and these are usually made of plastic or silicone. The most commonly used pessaries in the UK are discussed in this article.