Effects of informed consent for individual genome sequencing on relevant knowledge

Kaphingst KA, Facio FM, Cheng M‐R, Brooks S, Eidem H, Linn A, Biesecker BB, Biesecker LG. Effects of informed consent for individual genome sequencing on relevant knowledge. Increasing availability of individual genomic information suggests that patients will need knowledge about genome sequencing to make informed decisions, but prior research is limited. In this study, we examined genome sequencing knowledge before and after informed consent among 311 participants enrolled in the ClinSeq? sequencing study. An exploratory factor analysis of knowledge items yielded two factors (sequencing limitations knowledge; sequencing benefits knowledge). In multivariable analysis, high pre‐consent sequencing limitations knowledge scores were significantly related to education [odds ratio (OR): 8.7, 95% confidence interval (CI): 2.45–31.10 for post‐graduate education, and OR: 3.9; 95% CI: 1.05, 14.61 for college degree compared with less than college degree] and race/ethnicity (OR: 2.4, 95% CI: 1.09, 5.38 for non‐Hispanic Whites compared with other racial/ethnic groups). Mean values increased significantly between pre‐ and post‐consent for the sequencing limitations knowledge subscale (6.9–7.7, p < 0.0001) and sequencing benefits knowledge subscale (7.0–7.5, p < 0.0001); increase in knowledge did not differ by sociodemographic characteristics. This study highlights gaps in genome sequencing knowledge and underscores the need to target educational efforts toward participants with less education or from minority racial/ethnic groups. The informed consent process improved genome sequencing knowledge. Future studies could examine how genome sequencing knowledge influences informed decision making.     

Bone attenuation on routine chest CT correlates with bone mineral density on DXA in patients with COPD

Chronic obstructive pulmonary disease (COPD), although primarily a disease of the lungs, is associated with extrapulmonary effects such as muscle weakness and osteoporosis. Fractures owing to osteoporosis cause significant morbidity and mortality, particularly in patients with COPD. To prevent osteoporotic fractures, it is important to diagnose osteoporosis in an early stage and to start anti‐osteoporotic therapy in at‐risk patients. Because routine chest computed tomography (CT) is increasingly used to assess the extent of emphysema and airways disease in patients with COPD, we investigated whether simple attenuation measurement of the thoracic spine on routine chest CT may provide useful information on bone health in patients with COPD. Fifty‐eight patients with moderate to very severe COPD were included in our study. The average attenuation of thoracic vertebrae 4, 7, and 10 on chest CT was correlated with the lowest bone mineral density (BMD) of the hip and lumbar spine (L₁ to L₄) on dual‐energy X‐ray absorptiometry (DXA) in patients with COPD. The inter‐ and intra‐observer variabilities of the attenuation measurements were low as shown by Bland‐Altman plots. Pearson's correlation coefficient between the average attenuation of the three thoracic vertebrae and the lowest BMD of the hip and lumbar spine was high (r = 0.827, p < 0.001). A receiver‐operating characteristic (ROC) analysis of the area under the curve for osteoporosis was 0.969 (p < 0.001), corresponding to an attenuation threshold of 147 Hounsfield Units (HU). In conclusion, our data demonstrated that bone attenuation measured on routine chest CT correlated strongly with BMD assessed on DXA in patients with COPD. Routine chest CT may provide useful information on bone health in patients with COPD. © 2012 American Society for Bone and Mineral Research.     

Online Prevention Aimed at Lifestyle Behaviors: A Systematic Review of Reviews

Background

Interventions aimed at behavior change are increasingly being delivered over the Internet. Although research on intervention effectiveness has been widely conducted, their true public health impact as indicated by reach, effectiveness, and use is unclear.

Objective

The aim of this paper is to (1) review the current literature on online prevention aimed at lifestyle behaviors, and (2) identify research gaps regarding reach, effectiveness, and use.

Methods

A systematic search in PubMed revealed relevant literature published between 2005 and 2012 on Internet-delivered behavior change interventions aimed at dietary behaviors, physical activity, alcohol use, smoking, and condom use. Our search yielded 41 eligible reviews, which were analyzed in terms of reach, effectiveness, and use according to the RE-AIM framework.

Results

According to health priorities, interventions are largely targeted at weight-related behaviors, such as physical activity and dietary behavior. Evaluations are predominantly effect-focused and overall effects are small, variable, and not sustainable. Determinants of effectiveness are unclear; effectiveness cannot yet be unambiguously attributed to isolated elements. Actual reach of interventions is undiversified, mostly reaching participants who are female, highly educated, white, and living in high-income countries. One of the most substantial problems in online prevention is the low use of the interventions, a phenomenon seen across all behavior domains.

Conclusions

More research is needed on effective elements instead of effective interventions, with special attention to long-term effectiveness. The reach and use of interventions need more scientific input to increase the public health impact of Internet-delivered interventions.     

The importance of the mean platelet volume in the diagnosis of supraventricular tachycardia

Background

This retrospective study aimed to investigate the diagnostic relation between the mean platelet volume (MPV) and supraventricular tachyarrhythmia (SVT) in patient with documented atrial tachyarrhythmia in the emergency department (ED).

Methods

Two study groups were compared; a SVT group with arrive at the ED with documented SVT (n=122) and 100 healthy adult without any palpitation symptom, arrhythmic disease, and with normal physical examination results that were brought for checkups to the cardiology polyclinic were classified as control group. Blood samples were obtained from all patients for determining the hematologic counts and MPV during first hour in ED period.

Results

In terms of the focus of the study, hemoglobin, neutrophil count, mean cell volume (MCV), red cell distribution width (RDW), platelet, white blood cell (WBC), and lymphocyte counts were similar in both group (p>0.05). MPV in the SVT group was significantly higher than in the control group (9.12±1.22 flvs 8.64±0.89 fl, p<0.001). Multivariate logistic regression analysis showed that just MPV was independent predictor of SVT in patients with palpitation in ED (odds ratio [OR] 8.497, 95% confidence interval (6.181 to 12.325), p=0.012).

Conclusion

The present study described that MPV is helpful parameter for the diagnosis of SVT in emergency department, for the first time in the literature.     

What are the best ways to deliver benzodiazepines in children/patients with prolonged convulsive seizures?

Aetiology is the main determinant of morbidity and mortality in convulsive status epilepticus (CSE) but longer seizure durations may also increase risk of worse outcome. Thirty minutes of seizure activity is usually the time period used in longstanding definitions of CSE but it is not acceptable to wait for 30 minutes before treatment. Whilst intravenous therapy is best, pre‐hospital treatment by a non‐intravenous route is most practical in treating children. Benzodiazepines are the main class of first‐line emergency antiepileptic drugs. This review will examine the available data on benzodiazepines according to: stability in the conditions of the emergency room services, drug absorption via non‐intravenous route, clinical efficacy and safety, and ease of delivery and social acceptability.     

Biomechanical approaches applied to the lower and upper limb for the measurement of spasticity: A systematic review of the literature

Purpose: To review and characterise biomechanical approaches for the measurement of spasticity as one component of the upper motor neurone syndrome. Method: Systematic literature searches based on defined constructs and a four-step review process of approaches used or described to measure spasticity, its association with function or associated phenomena. Most approaches were limited to individual joints and therefore, to reflect this trend, references were grouped according to which body joint(s) were investigated or whether it addressed a functional activity. For each joint, references were further sub-divided into the types of measurement method described. Results: A database of 335 references was established for the review process. The knee, ankle and elbow joints were the most popular, perhaps reflecting the assumption that they are mono-planar in movement and therefore simpler to assess. Seven measurement methods were identified: five involving passive movement (manual, controlled displacement, controlled torque, gravitational and tendon tap) and two involving active movement (voluntary and functional). Generally, the equipment described was in an experimental stage and there was a lack of information on system properties, such as accuracy or reliability. Patient testing was either by cohort or case studies. The review also conveyed the myriad of interpretations of the concept of spasticity. Conclusions: Though biomechanical approaches provide quantitative data, the review highlighted several limitations that have prevented them being established as an appropriate method for clinical application to measure spasticity.     

前列腺癌及前列腺上皮内瘤13号染色体等位基因杂合性缺失分析

目的　探讨原发性前列腺癌及高级别前列腺上皮内肿瘤 (PIN) 13号染色体等位基因杂合性缺失 (LOH)及其意义。　方法　经显微切割技术获取前列腺癌及PIN标本各 10例。提取DNA ,采用PCR及微卫星多态性技术 ,对 13号染色体上 14个微卫星标志位点LOH进行检测。　结果　 10例原发性前列腺癌中 7例 13号染色体上至少有一个位点检测到LOH。 13q14及 13q12～ 13为两个高频LOH区。 10例PIN中 13号染色体的 14个位点均未检测到LOH。　结论　前列腺癌中存在 13号染色体的高频LOH区 ,乳腺癌易感基因 (BRCA2 )、视网膜母细胞瘤基因 (RB1)及位于附近的肿瘤抑制基因可能与前列腺癌的发生发展有关     

The workload of GPs: consultations of patients with psychological and somatic problems compared

BACKGROUND: GPs report that patients' psychosocial problems play a part in 20% of all consultations. GPs state that these consultations are more time-consuming and the perceived burden on the GP is higher. AIM: To investigate whether GPs' workload in consultations is related to psychological or social problems of patients. DESIGN OF STUDY: A cross-sectional national survey in general practice, conducted in the Netherlands from 2000-2002. SETTING: One hundred and four general practices in the Netherlands. METHOD: Videotaped consultations (n = 1392) of a representative sample of 142 GPs were used. Consultations were categorised in three groups: consultations with a diagnosis in the International Classification of Primary Care chapter P 'psychological' or Z 'social' (n = 138), a somatic diagnosis but with a psychological background according to the GP (n = 309), or a somatic diagnosis and background (n = 945). Workload measures were consultation length, number of diagnoses and GPs' assessment of sufficiency of patient time. RESULTS: Consultations in which patients' mental health problems play a part (as a diagnosis or in the background) take more time and involve more diagnoses, and the GP is more heavily burdened with feelings of insufficiency of patient time. In consultations with a somatic diagnosis but psychological background, GPs more often experienced a lack of time compared to consultations with a psychological or social diagnosis. CONCLUSION: Consultations in which the GP notices psychosocial problems make heavier demands on the GP's workload than other consultations. Patients' somatic problems that have a psychological background induce the highest perceived burden on the GP.