Localization of a gene for otosclerosis to chromosome 15q25-q26

Among white adults otosclerosis is the single most common cause of hearing impairment. Although the genetics of this disease are controversial, the majority of studies indicate autosomal dominant inheritance with reduced penetrance. We studied a large multi- generational family in which otosclerosis has been inherited in an autosomal dominant pattern. Five of16 affected persons have surgically confirmed otosclerosis; the remaining nine have a conductive hearing loss but have not undergone corrective surgery. To locate the disease- causing gene we completed genetic linkage analysis using short tandem repeat polymorphisms (STRPs) distributed over the entire genome. Multipoint linkage analysis showed that only one genomic region, on chromosome 15q, generated a lod score >2.0. Additional STRPs were typed in this area, resulting in a lod score of 3.4. STRPs FES (centromeric) and D15S657 (telomeric) flank the 14. 5 cM region that contains an otosclerosis gene.      

Postoperative adjuvant radiotherapy and 5-fluorouracil chemotherapy for rectal carcinoma

Postoperative combined modality therapy with radiotherapy and 5-fluorouracil (5FU) chemotherapy is an effective adjuvant approach that reduces locoregional and distant metastatic disease in patients with high-risk rectal carcinoma. However, this approach results in a treatment regimen of at least 6 months’duration. The present prospective study investigates the integration of radiotherapy and 5FU chemotherapy in a protocol designed to minimize toxicity and reduce the overall treatment time. A total of 40 patients with TNM stage II or III disease received postoperative radiotherapy at four fractions per week with weekly 5FU bolus injections delivered on the fifth non-radiotherapy day. Patients also received systemic chemotherapy with leucovorin both before and after pelvic irradiation, with the total treatment duration extending for only 18 weeks. Patients were able to complete radiotherapy in 90% of cases, while the delivery of full-dose chemotherapy was achievable in the vast majority. The incidence of haematologic and gastrointestinal toxicities requiring the cessation of treatment was acceptable. With a median follow-up of 20.9 months among surviving patients, the estimated progression-free and overall survival at 2 years were 71 % and 79%, respectively.     

Use of pre-operative steroids in liver resection: a systematic review and meta-analysis

Background

By attenuating the systemic inflammatory response to major surgery, the pre-operative administration of steroids may reduce the incidence of complications.

Methods

A systematic review was conducted to identify randomized controlled trials (RCT) comparing pre-operative steroid administration with placebo during a liver resection. Meta-analyses were performed.

Results

Five RCTs were identified including a total of 379 patients. Pre-operative steroids were associated with statistically significant reductions in the levels of serum bilirubin and interleukin 6 (IL-6) on post-operative day one. There was a trend towards a lower incidence of post-operative complications and prothrombin time (PT), but this did not reach statistical significance.

Conclusion

Pre-operative steroids may be associated with a clinically significant benefit in liver resection.     

The mindful attention and awareness scale is associated with lower levels of high-frequency heart rate variability in a laboratory context

Trait mindfulness has been associated with well-being. A key component of trait mindfulness is intentional attention and awareness which is most commonly measured by the Mindful Attention and Awareness Scale (MAAS). This study investigated the relationship between the MAAS and cardiovascular (HF-HRV, heart rate) reactivity to two laboratory stressors that evoked different patterns of change in heart rate (HR). One stressor (viewing a video of a surgery) evoked HR deceleration while the other stressor (mental arithmetic) evoked HR acceleration. Undergraduate students completed the MAAS and were then exposed to the two stressors while ECG (electrocardiography) was recorded. Findings support the reliability of the stressors to induce expected differential cardiovascular responses and explicate the role of parasympathetic activation. Further, a main effect for MAAS was observed indicating that across laboratory conditions, persons scoring higher on the MAAS had lower HF-HRV relative to persons scoring lower on the MAAS. These findings suggest that higher levels of intentional attention and awareness in a laboratory context might promote parasympathetic withdrawal because these participants were more vigilant, experienced higher cognitive load, and detected more threat cues. Implications for the MAAS and cardiovascular responses to stress are discussed.     

低氧暴露对运动性贫血大鼠抗氧化能力的影响

目的:观察低氧暴露对运动性贫血大鼠某些抗氧化酶的影响,探讨低氧条件下抗氧化系统的反应是否有利于改善运动性贫血。方法:实验于2005-07/09在广东省高等学校运动生物化学教学重点实验室完成。选择6周龄健康雄性SD大鼠40只,均为运动性贫血动物模型,大鼠适应环境1周后采用6周递增负荷跑台运动方式建立。按随机数字表法分为1h低氧暴露组、2h低氧暴露组和间歇性低氧暴露组、常氧恢复组,每组10只。采用人工常压低氧环境,低氧浓度控制在14.5%左右,按分组每天在常压低氧舱进行1,2h和间歇性低氧暴露(低氧暴露1h,中间间歇3h,再低氧暴露1h),其余时间在舱外常氧中自由活动,每周6d,持续3周。常氧恢复组大鼠在常氧中自由活动。3周后测试运动性贫血大鼠血清丙二醛含量、超氧化物歧化酶活性和血浆过氧化氢酶、谷胱甘肽过氧化酶活性。结果:纳入动物40只,均进入结果分析。①低氧暴露3周后1h低氧暴露组、2h低氧暴露组、间歇性低氧暴露组血清丙二醛含量均显著低于常氧恢复组[分别为(2.62±0.16),(2.60±0.22),(2.55±0.06),(3.36±0.34)μmol/L,P<0.05]。②低氧暴露3周后血清超氧化物歧化酶和血浆谷胱甘肽过氧化酶、过氧化氢酶活性均高于常氧恢复组,2h低氧暴露组与常氧恢复组比较差异有显著性意义[分别为(4239.68±169.53),(3190.30±339.40)μkat/L;(20622.46±2002.07),(15556.44±607.79)μkat/L;(50.01±6.67),(35.17±4.50)μkat/L,P<0.05]。③各低氧暴露组间除2h低氧暴露组血清超氧化物歧化酶活性显著高于1h低氧暴露组外[分别为(4239.68±169.53),(2126.41±161.20)μkat/L,P<0.05],其他指标组间差异无显著性意义(P>0.05)。结论:低氧暴露可提高运动性贫血大鼠机体的抗氧化能力,有利于促进运动性贫血的恢复。     

运动性心律失常

运动性心律失常是指发生于机体剧烈运动期间或之后的心律失常。临床表现不一,从心悸、头晕、晕厥、心绞痛、急性心肌梗死和充血性心力衰竭,甚至到心脏性猝死。运动性心律失常可见于心肌缺血,如患有动脉粥样硬化性心脏病以及患有原发性或继发性心肌病的患者。然而,也可能发生在似乎健康的个体。在后一组人群中,运动性心律失常可以是良性的,但也可以是获得性(如药物诱发)或先天性(如先天性长QT综合征或致心律失常性右室发育不良)心电活动或结构的异常而呈恶性。这种潜在病理生理学机制的复杂性,使运动性心律失常的诊断和治疗成为临床医学上的…