Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene.

Parkin mutations account for the majority of familial and sporadic early onset Parkinson's disease (EOPD) cases with a known genetic association. More than 100 mutations have been described in the Parkin gene that includes homozygous, compound heterozygous, and single heterozygous mutations. We have designed a Parkin mutation genotyping array (gene chip) that includes published Parkin sequence variants and allows their simultaneous detection. The chip was validated by screening 85 PD cases and 47 controls previously tested for Parkin mutations. Similar genotyping microarrays have been developed for other genetically heterogeneous diseases including age-related macular degeneration. Here, we show the utility of a genotyping array for Parkinson's disease by analysis of 60 subjects from the Genetic Epidemiology of Parkinson Disease (GEPD) study that includes 15 early-onset PD case probands and 45 relatives.     

Radiance FN充填面部效果独特

RadianceFN(生物型)是一种优质的可注射充填材料,可用于轻度缺陷的整形充填,尤其是颜面中部。随着经验的不断积累,还可能发现这种较新的充填材料的其他用途。他在一个名为“精通皮肤科门诊程序”的继续教育项目中做了演讲。该项目由斯坦福大学皮肤病学系主办。RadianceFN是含羟基磷灰石钙微粒悬浮体的羟甲基纤维素凝胶,目前销售许可的用途是治疗声带褶皱功能不全引起的功能障碍以及作为医疗放射学标记物。在某些国家,它可用于皮下充填,但此用途在美国尚未得到有关当局认可。该材料优点很多,柔韧而耐久。因为有良好的柔韧性,它很容易塑型…     

Metabolic alkalosis after pediatric cardiac surgery.

OBJECTIVE: To determine occurrence, causes and associated mortality of postoperative metabolic alkalosis in pediatric cardiac surgery. METHODS: We retrospectively analyzed clinical and biochemical variables of 186 consecutive cardiac operations other than ductal ligations on children less than 2 years old during the years 1999 and 2000. Metabolic alkalosis was defined as a pH>7.48 corrected for PCO2, with a base excess > or =5 on two or more consecutive measurements during an 8h period. RESULTS: Median age was 15 weeks [range 2 days-95 weeks] and median weight 4.5 kg [range 2.1-15.7 kg]. In 157 cases, cardiopulmonary bypass was used. In 92 [49%] procedures, metabolic alkalosis occurred with the highest corrected pH 24.3h after operation. Multivariate regression analysis associated age [P<0.001], cardiopulmonary bypass [P<0.001] and preoperative ductal dependency [P=0.04] with postoperative metabolic alkalosis. Of the surgical procedures the arterial switch for transposition of the great arteries [n=19] was strongly associated with metabolic alkalosis [100%, P<0.001]. Hemodilution appeared to enhance the development of alkalosis: those who experienced alkalosis had been hemodiluted to a greater extent [P=0.007]. Nearly 95% of patients experienced some increase in bicarbonate, but patients with metabolic alkalosis experienced more than those without [5.9 versus 3.5 mmol/l, P<0.001]. There were four postoperative deaths, only one coincidental with metabolic alkalosis. CONCLUSIONS: Metabolic alkalosis has a high incidence after pediatric cardiac surgery, strongly associated with younger age, cardiopulmonary bypass, preoperative ductal dependency and perioperative hemodilution. Early recognition allows for timely therapeutic intervention.     

面部自体脂肪移植术的进展

在美国美容外科学会的年会上,W. W.Ehrlich博士说:开始从事自体脂肪移植进行面部轮廓重建的美容外科医师应该对曲折的学习过程和一些出乎意料的结果有所准备.     

Corticosterone release in response to repeated, short episodes of neonatal isolation : evidence of sensitization

Repeated isolation of neonatal rats produces persistent changes in physiology and behavior. In Experiment 1, we examined changes in plasma corticosterone (CORT) levels as a possible mechanism for the effects of isolation. Pups that were isolated from their mother and the nest for 1 h per day on postnatal days (PND) 2–9 were compared to control litters of pups that were either nonhandled or handled but not isolated. On PND 2, compared to nonhandled pups, handled pups had elevated CORT levels that returned to baseline levels within 30 to 60 min of return to the home cage. No significant elevation of CORT levels were found in handled pups on PND 9. The CORT levels of isolated pups were over twice those of nonhandled pups on PND 2 and four times those of nonhandled pups on PND 9. In Experiment 2, we investigated whether the increased CORT release in response to isolation on PND 9 was the result of the pups treatment on the previous six days as against an effect of maturation. Plasma CORT levels were measured in rat pups that were either isolated, handled or nonhandled on PNDs 2–8 during the conditions of isolation, handling and nonhandling on PND 9. There were no differences among the groups in basal plasma levels of CORT. Handling on PND 9 did not result in elevated CORT levels in any of the groups. All three groups showed a significant increase in plasma CORT levels after isolation on PND 9. However, the CORT response to isolation of pups previously isolated on PND 2–8 were significantly higher than pups that were either handled or nonhandled on PNDs 2–8. Thus, daily episodes of isolation potentiate the hypothalamic-pituitary-adrenal response to stress.     

Diagnosis: Chronic kidney disease, now what!

The occupational health nurse can play an important role in supporting employees with CKD and ESRD by recognizing risk factors such as diabetes and hypertension associated with CKD. The occupational health nurse should encourage compliance with treatment regimens that retard or delay progression of kidney disease into the next stage, especially blood pressure and glucose control. When employees are in need of diagnostic testing, the occupational health nurse can describe the testing procedures such as laboratory values, ultrasounds, and biopsies, and explain the five stages of CKD. The occupational health nurse can assist employees in Stage 4 or 5 CKD in deciding on a treatment option modality that best suits their individual lifestyles, after they have seen a nephrologist and kidney patient educator. In addition, the occupational health nurse can guide employees with difficult lifestyle changes and provide support during the adjustment process. The occupational health nurse also can play a key role in facilitating and coordinating those changes with the renal social worker. Together they can explore available resources, such as the NKF, the American Association of Kidney Patients, and kidneydirections.com. See the Sidebar on pages 295 to 296 for other available resources. Kidney disease can be a devastating diagnosis. Support and education are key to a successful lifestyle transition. Employees who have CKD and work with an occupational health nurse who is informed about their disease and its stages of progression can benefit from educational processes that create informed choices to delay or retard the progression of their renal disease.