Copy Number Variation in Familial Parkinson Disease

Copy number variants (CNVs) are known to cause Mendelian forms of Parkinson disease (PD), most notably in SNCA and PARK2. PARK2 has a recessive mode of inheritance; however, recent evidence demonstrates that a single CNV in PARK2 (but not a single missense mutation) may increase risk for PD. We recently performed a genome-wide association study for PD that excluded individuals known to have either a LRRK2 mutation or two PARK2 mutations. Data from the Illumina370Duo arrays were re-clustered using only white individuals with high quality intensity data, and CNV calls were made using two algorithms, PennCNV and QuantiSNP. After quality assessment, the final sample included 816 cases and 856 controls. Results varied between the two CNV calling algorithms for many regions, including the PARK2 locus (genome-wide p = 0.04 for PennCNV and p = 0.13 for QuantiSNP). However, there was consistent evidence with both algorithms for two novel genes, USP32 and DOCK5 (empirical, genome-wide p-values<0.001). PARK2 CNVs tended to be larger, and all instances that were molecularly tested were validated. In contrast, the CNVs in both novel loci were smaller and failed to replicate using real-time PCR, MLPA, and gel electrophoresis. The DOCK5 variation is more akin to a VNTR than a typical CNV and the association is likely caused by artifact due to DNA source. DNA for all the cases was derived from whole blood, while the DNA for all controls was derived from lymphoblast cell lines. The USP32 locus contains many SNPs with low minor allele frequency leading to a loss of heterozygosity that may have been spuriously interpreted by the CNV calling algorithms as support for a deletion. Thus, only the CNVs within the PARK2 locus could be molecularly validated and associated with PD susceptibility

Preventing Falls in Older Californians: State of the Art

In February 2003, the Foundation convened over 150 leaders in academic, legislative, community-based services, consumer advocates, aging network, housing, public health, public safety, and other leaders who worked for two days on a statewide blueprint on fall prevention.  In preparation for the convening, a Preconference White Paper was created and used to build the blueprint.  The California Blueprint describes state-of-the-art approaches to reducing the risks of falls, and the challenges to implementing fall prevention in California.  One of the top recommendations from this blueprint was the creation of a coordination center that could serve as a statewide resource and lead efforts in fall prevention.  This recommendation eventually led to the creation of the Fall Prevention Center of Excellence (FPCE)

A randomized controlled trial of orthodontist-based brief advice to prevent child obesity

Objective: We conducted a randomized controlled trial to test whether brief exercise and diet advice provided during child patient visits to their orthodontic office could improve diet, physical activity, and age-and-genderadjusted BMI. Methods: We enrolled orthodontic offices in Southern California and Tijuana, Mexico, and recruited their patients aged 8-16 to participate in a two-year study. At each office visit, staff provided the children with "prescriptions" for improving diet and exercise behaviors. Multilevel models, which adjusted for clustering, determined differential group effects on health outcomes, and moderation of effects. Results: We found differential change in BMI favoring the intervention group, but only among male participants (p < 0.001; Cohen's d = 0.085). Of four dietary variables, only junk food consumption changed differentially, in favor of the intervention group (p = 0.020; d = 0.122); the effect was significant among overweight/obese (p = 0.001; d = 0.335) but not normal weight participants. Physical activity declined non-differentially in both groups and both genders. Conclusion: The intervention, based on the Geoffrey Rose strategy, had limited success in achieving its aims

Relationships Between Cardiorespiratory Fitness, Physical Activity, and Psychosocial Variables in Overweight and Obese Breast Cancer Survivors

# The Author(s) 2010. This article is published with open access at Springerlink.com Background Breast cancer survivors not only experience distressing physical symptoms associated with treatments, but also are faced with psychosocial challenges. Despite growing scientific evidence that physical activity (PA) may mitigate psychosocial distress experienced by women treated for breast cancer, the literature is equivocal. Purpose This study investigated the relationships between cardiorespiratory fitness (CRF), PA, and psychosocial factors in breast cancer survivors. Method Data involving overweight or obese breast cancer survivors (N=260) were examined. CRF was determined by a submaximal graded exercise test. PA, depressive symptoms, total fatigue, and global self-esteem were assessed with selfreport measures. Pearson&apos;s correlations were conducted to determine associations among CRF, PA, depressive symptoms, total fatigue, and global self-esteem. Multiple regression models, with age and body mass index as covariates, were performed using continuous levels for CRF and PA. Results Bivariate correlations suggested that CRF and PA were unrelated to the psychosocial variables. One of the regression models identified a marginally significant (P=0.06) inverse association between depressive symptoms and PA. Conclusion CRF and PA were not associated with psychosocial factors in this sample of breast cancer survivors. However

Genomewide association study for onset age in Parkinson disease

<p>Abstract</p> <p>Background</p> <p>Age at onset in Parkinson disease (PD) is a highly heritable quantitative trait for which a significant genetic influence is supported by multiple segregation analyses. Because genes associated with onset age may represent invaluable therapeutic targets to delay the disease, we sought to identify such genetic modifiers using a genomewide association study in familial PD. There have been previous genomewide association studies (GWAS) to identify genes influencing PD susceptibility, but this is the first to identify genes contributing to the variation in onset age.</p> <p>Methods</p> <p>Initial analyses were performed using genotypes generated with the Illumina HumanCNV370Duo array in a sample of 857 unrelated, familial PD cases. Subsequently, a meta-analysis of imputed SNPs was performed combining the familial PD data with that from a previous GWAS of 440 idiopathic PD cases. The SNPs from the meta-analysis with the lowest p-values and consistency in the direction of effect for onset age were then genotyped in a replication sample of 747 idiopathic PD cases from the Parkinson Institute Biobank of Milan, Italy.</p> <p>Results</p> <p>Meta-analysis across the three studies detected consistent association (p < 1 × 10^-5) with five SNPs, none of which reached genomewide significance. On chromosome 11, the SNP with the lowest p-value (rs10767971; p = 5.4 × 10^-7) lies between the genes <it>QSER1 </it>and <it>PRRG4</it>. Near the PARK3 linkage region on chromosome 2p13, association was observed with a SNP (rs7577851; p = 8.7 × 10^-6) which lies in an intron of the <it>AAK1 </it>gene. This gene is closely related to <it>GAK</it>, identified as a possible PD susceptibility gene in the GWAS of the familial PD cases.</p> <p>Conclusion</p> <p>Taken together, these results suggest an influence of genes involved in endocytosis and lysosomal sorting in PD pathogenesis.</p

MOBILE AND WEARABLE DEVICE FEATURES THAT MATTER IN PROMOTING PHYSICAL ACTIVITY

Background: As wearable sensors/devices become increasingly popular to promote physical activity (PA), research is needed to examine how and which components of these devices people use to increase their PA levels. Aims: (1) To assess usability and level of engagement with the Fitbit One and daily SMS-based prompts in a 6-week PA intervention, and (2) to examine whether use/ level of engagement with specific intervention components were associated with PA change. Methods: Data were analyzed from a randomized controlled trial that compared (1) a wearable sensor/ device (Fitbit One) plus SMS-based PA prompts, and (2) Fitbit One only, among overweight/ obese adults (N067). We calculated average scores from Likert-type response items that assessed usability and level of engagement with device features (e.g., tracker, website, mobile app, and SMS-based prompts), and assessed whether such factors were associated with change in steps/day (using Actigraph GT3X&apos;). Results: Participants reported the Fitbit One was easy to use and the tracker helped to be more active. Those who used the Fitbit mobile app (36%) vs. those who did not (64%) had an increase in steps at 6-week follow-up, even after adjusting for previous web/app use: &apos;545 steps/ day (SE 0 265) vs. (28 steps/ day (SE 0242) (p 0.04). Conclusions: Level of engagement with the Fitbit One, particularly the mobile app, was associated with increased steps. Mobile apps can instantly display summaries of PA performance and could optimize self-regulation to activate change. More research is needed to determine whether such modalities might be cost-effective in future intervention research and practice

Retraining of a competitive master athlete following traumatic injury : a case study

Effets physiologiques du désentraînement et du réentraînement étudiés chez une coureuse cycliste âgée de 49 ans, à la suite d'une fracture de la clavicule opérée, compliquée d'un syndrome d'empiétement du plexus brachial

Utility of the Actiheart Accelerometer for Estimating Exercise Energy Expenditure in Female Adolescent Runners

There is a growing need to accurately assess exercise energy expenditure (EEE) in athletic populations that may be at risk for health disorders because of an imbalance between energy intake and energy expenditure. The Actiheart combines heart rate and uniaxial accelerometry to estimate energy expenditure above rest. The authors' purpose was to determine the utility of the Actiheart for predicting EEE in female adolescent runners (N = 39, age 15.7 +/- 1.1 yr). EEE was measured by indirect calorimetry and predicted by the Actiheart during three 8-min stages of treadmill running at individualized velocities corresponding to each runner's training, including recovery, tempo, and 5-km-race pace. Repeated-measures ANOVA with Bonferroni post hoc comparisons across the 3 running stages indicated that the Actiheart was sensitive to changes in intensity (p < .01), but accelerometer output tended to plateau at race pace. Pairwise comparisons of the mean difference between Actiheart- and criterion-measured EEE yielded values of 0.0436, 0.0539, and 0.0753 kcal . kg(-1) min(-1) during recovery, tempo, and race pace, respectively (p < .0001). Bland Altman plots indicated that the Actiheart consistently underestimated EEE except in 1 runner's recovery bout. A linear mixed-model regression analysis with height as a covariate provided an improved EEE prediction model, with the overall standard error of the estimate for the 3 speeds reduced to 0.0101 kcal . kg(-1) . min(-1). Using the manufacturer's equation that combines heart rate and uniaxial motion, the Actiheart may have limited use in accurately assessing EEE, and therefore energy availability, in young, female competitive runners.2.230 JCR (2010) Q2, 33/70 Nutrition & dietetics, 20/80 Sport scienceUE

Utility of the Actiheart Accelerometer for Estimating Exercise Energy Expenditure in Female Adolescent Runners

There is a growing need to accurately assess exercise energy expenditure (EEE) in athletic populations that may be at risk for health disorders because of an imbalance between energy intake and energy expenditure. The Actiheart combines heart rate and uniaxial accelerometry to estimate energy expenditure above rest. The authors' purpose was to determine the utility of the Actiheart for predicting EEE in female adolescent runners (N = 39, age 15.7 +/- 1.1 yr). EEE was measured by indirect calorimetry and predicted by the Actiheart during three 8-min stages of treadmill running at individualized velocities corresponding to each runner's training, including recovery, tempo, and 5-km-race pace. Repeated-measures ANOVA with Bonferroni post hoc comparisons across the 3 running stages indicated that the Actiheart was sensitive to changes in intensity (p < .01), but accelerometer output tended to plateau at race pace. Pairwise comparisons of the mean difference between Actiheart- and criterion-measured EEE yielded values of 0.0436, 0.0539, and 0.0753 kcal . kg(-1) min(-1) during recovery, tempo, and race pace, respectively (p < .0001). Bland Altman plots indicated that the Actiheart consistently underestimated EEE except in 1 runner's recovery bout. A linear mixed-model regression analysis with height as a covariate provided an improved EEE prediction model, with the overall standard error of the estimate for the 3 speeds reduced to 0.0101 kcal . kg(-1) . min(-1). Using the manufacturer's equation that combines heart rate and uniaxial motion, the Actiheart may have limited use in accurately assessing EEE, and therefore energy availability, in young, female competitive runners.2.230 JCR (2010) Q2, 33/70 Nutrition & dietetics, 20/80 Sport scienceUE

Compliance with Smoke-Free Policies in Korean Bars and Restaurants in California: a Descriptive Analysis

BackgroundCompliance with California's smoke-free restaurant and bar policies may be more a function of social contingencies and less a function of legal contingencies. The aims of this study were: 1) to report indications of compliance with smoke-free legislation in Korean bars and restaurants in California; 2) to examine the demographic, smoking status, and acculturation factors of who smoked indoors; and 3) to report social cues in opposition to smoking among a sample of Koreans in California.Materials and methodsData were collected by telephone surveys administered by bilingual interviewers between 2007-2009, and included California adults of Korean descent who visited a Korean bar or restaurant in a typical month (N=2,173, 55% female).Results1% of restaurant-going participants smoked inside while 7% observed someone else smoke inside a Korean restaurant. Some 23% of bar-going participants smoked inside and 65% observed someone else smoke inside a Korean bar. Presence of ashtrays was related to indoor smoking in bars and restaurants. Among participants who observed smoking, a higher percentage observed someone ask a smoker to stop (17.6%) or gesture to a smoker (27.0%) inside Korean restaurants (N=169) than inside Korean bars (n=141, 17.0% observed verbal cue and 22.7% observed gesture). Participants who smoked inside were significantly younger and more acculturated than participants who did not. Less acculturated participants were significantly more to likely to be told to stop smoking.ConclusionsTen years after implementation of ordinances, smoking appears to be common in Korean bars in California