Quality of life in asymptomatic children and adolescents before and after diagnosis of hypertrophic cardiomyopathy through family screening

Aims and objectives. The aim of this study was to measure quality of life (QoL) in asymptomatic children with hypertrophic cardiomyopathy (HCM) before and after diagnosis. Background. Hypertrophic cardiomyopathy is a disease with a 50% risk of inheritance. Children at risk for serious complications can be diagnosed early with family screening, but before embarking on a screening programme, it is important to evaluate the psychosocial consequences of such screening. Design. Prospective case‐control study. Methods. Quality of life was measured using a questionnaire by Lindström incorporating both objective and subjective aspects of the three spheres: external, interpersonal and personal, before and two years after diagnosis. The study group consisted of 13 children/adolescents (11 boys), median age 11 (5–18) years, with HCM diagnosed at family screening. All filled out a questionnaire before diagnosis and at follow‐up. 41 healthy children/adolescents (22 boys), median age 11 (2–19) years with a first‐degree relative diagnosed with HCM served as controls; 15/41 also completed follow‐up data. Results. The total QoL score for all spheres was similar in both groups at baseline and follow‐up. In the interpersonal sphere, it was more common that children diagnosed with HCM had no siblings both at baseline (p = 0·002) and follow‐up (p = 0·005). The family situation, social support and life events were unchanged from baseline to follow‐up. Children with HCM had significantly more psychosomatic symptoms compared with controls at baseline (p < 0·05) but not at follow‐up. Self‐esteem, peer acceptance and satisfaction with school were unchanged and similar between groups. Conclusion. Family screening for HCM does not appear to negatively influence QoL. Relevance to clinical practice. This study indicates that family screening of asymptomatic children and adolescents had no significant detrimental effects on QoL. This suggests that the benefits of finding symptomatic individuals at risk for serious complications outweigh concerns about screening asymptomatic individuals.     

北京市怀柔区儿童维生素D营养状况及其与体成分的关系

目的 分析儿童维生素D的营养状况及其与体成分的关系.方法 选取北京市怀柔区(北纬40.3°)7～11岁学龄儿童381名,于2008年3月采集静脉血并采用酶联免疫吸附试验(ELISA,英国IDS公司)测定血清中25-羟维生素D[25(OH)D]的浓度,双能X线吸收仪(DEXA,美国Norland公司)测定前臂及全身的体成分,分析维生素D与体成分的相关性.结果研究对象血清25(OH)D的平均浓度为(44.4±12.5)nmol/L,维生素D缺乏和不足率[血清25(OH)D≤50 nmol/L]达68.5%.男生血清25(OH)D浓度(46.3±13.3)nmol/L高于女生(42.0±11.1)nmol/L,差异有统计学意义(t=3.38,P<0.01).血清25(OH)D浓度与前臂近端、远端、全身及分部位中四肢的瘦体重呈正相关(r=0.13～O.19,P<0.05),与前臂近端、远端的体脂百分比呈负相关(r=-0.14,P<0.05;r=-0.11,P<0.05),均有统计学意义.调整年龄、性别、身高、体重等混杂因素后,与前臂近端、全身分部位中双下肢的瘦体重相关性仍有统计学意义(r=0.12～0.14,P<0.05).血清25(OH)D浓度与各部位体脂的相关性均无统计学意义.结论 维生素D缺乏在北京市郊区儿童中较为普遍,而维生素D营养状况对体成分,尤其对瘦体重有促进作用.     

Eye eccentricity modifies the perception of whole-body rotation

In order to explore the effect of gaze orientation on whole-body rotation perception, ten healthy participants were rotated in the dark while fixating on a visual target located either straight ahead or 15° to the right. A vestibular-memory contingent saccade paradigm was used to estimate the rotation perception. The results attest to the participants’ ability to accurately perceive their rotation, based solely on the intrinsic inputs (somesthetic and mainly vestibular), since the correlation between the imposed body rotation and the saccade amplitude was significant and positive. However, the rotation perception was less accurate and of lesser magnitude when the gaze was deviated in the opposite direction to the rotation than when it was either straight ahead or deviated in the direction of the rotation. This can be interpreted as the perceptual equivalent of Alexander’s law.     

Circulating adhesion molecules in allergic and non-allergic asthma

Circulating forms of adhesion molecules (intercellular-adhesion molecule-1 (ICAM-1), vascular cell adhesion molecule-1 (VCAM-1) and E-selectin ) are related to the turnover of these molecules on the cell surface. In contrast to the other molecules, the levels of E-selectin probably exclusively reflect the activity of endothelial cells. The aim of this study was to compare levels of circulating adhesion molecules in patients with allergic (AA) and non-allergic asthma (NA) and to relate the levels of soluble adhesion molecules to methacholine responsiveness and lung function. The study comprised 19 patients with AA, 15 patients with NA and 17 healthy subjects. Soluble adhesion molecules, spirometry, methacholine responsiveness and peak flow variability was measured. The group of patients with AA had higher levels of sE-selectin than the reference group (P=0.046). Serum levels of sE-selectin correlated significantly with bronchial responsiveness (r=0.76) and peak flow variability (r=0.75) (P<0.01) in the NA but not in the AA group. All adhesion molecules in AA (P<0.05-<0.001), but only sE-selectin in NA (P<0.05), were correlated to airway conductance. sVCAM-1 was reduced by inhaled steroids (P<0.01). Our results indicate that endothelial cells are activated in asthma and that this activity has a bearing on airflow variability and bronchial responsiveness in NA.     

Incidental findings in multislice computed tomography prior to transcatheter aortic valve implantation: frequency,clinical relevance and outcome

Multislice computed tomography (MSCT) has emerged as the mainstay in patients planned for transcatheter aortic valve implantation (TAVI). Incidental findings (IF) in MSCT are common. However, the exact incidence, clinical relevance and further consequences of IF are unclear and it is controversial whether IF adversely affect patients’ outcome. We analyzed MSCT data of 1050 patients screened for TAVI between January 2011 and December 2014. Median follow-up of patients was 20 months. In total, 3194 IF were identified, which were classified into clinically non-relevant IF (2872, 90%) and clinically relevant IF (322, 10%). In 25% of patients (258/1050) at least one clinically relevant IF was present. Age (80?±?7 vs. 80?±?7 years; p?=?0.198) and EuroSCORE II (3.6% [2.1–5.7] vs. 3.6% [2.1–5.9]; p?=?0.874) was similar between patients with and without a clinically relevant IF. TAVI was performed less frequently in patients with a clinically relevant IF (76% vs. 85%; p?<?0.001), with more patients receiving surgical aortic valve replacement in that group (14% vs. 11%; p?=?0.042), possibly due to the high rate of incidental aneurysms of the ascending aorta (n?=?48). If TAVI was performed mortality did not differ (30-days: 4% vs. 3%; p?=?0.339, 1-year: 11% vs. 14%; p?=?0.226) between patients with and without a clinically relevant IF. Our study is the largest study to analyze prevalence, clinical relevance and therapeutic consequences of IF during screening for TAVI. IF in pre-procedural MSCT are common and clinically relevant in one-quarter of patients. However, these findings had no impact on overall mortality.     

Obsessive–Compulsive Disorder is Characterized by a Lack of Adaptive Coping Rather than an Excess of Maladaptive Coping

The present study aimed to elucidate the profile of coping in patients with obsessive–compulsive disorder (OCD) in order to discern whether the disorder is characterized by an excess of maladaptive coping skills and/or a lack of adaptive coping skills. Sixty individuals with OCD were compared with 110 individuals with depression and 1050 nonclinical controls on the Maladaptive and Adaptive Coping Styles Questionnaire (MAX). Psychopathology was assessed with the Obsessive–Compulsive Inventory-Revised (OCI-R), the Yale-Brown Obsessive–Compulsive Scale (Y-BOCS), and the Patient Health Questionnaire-9 for depression (PHQ-9). Individuals with OCD and depression displayed more maladaptive coping and avoidance as well as less adaptive coping than nonclinical controls. Importantly, adaptive coping was significantly lower in individuals with OCD than in those with depression at a medium effect size, whereas the clinical groups were indistinguishable on maladaptive coping and avoidance. Lack of adaptive coping was strongly correlated with resistance to symptoms and poor insight in OCD (Y-BOCS), even after controlling for depression. Lack of adaptive coping skills may represent a specific pathogenetic factor in OCD. Longitudinal studies need to clarify whether strengthening adaptive skills during childhood and adolescence may help to prevent the progression from subclinical to manifest OCD.