89 research outputs found
PER2 Variation is Associated with Diurnal Preference in a Korean Young Population
The PER2 gene has been reported to influence diurnal preference. In this study, we have attempted to characterize the associations between the PER2 gene polymorphisms and diurnal preference in a population of healthy young subjects, controlling for the social and environmental confounding factors. Subjects were 299 students in a college, carefully selected to be mentally and physically healthy. All subjects completed the 13-item composite scale for morningness (CSM). PER2 gene polymorphisms were genotyped by PCR-based methods. Genotype and allele carrier status of a PER2 G3853A polymorphism (rs934945) were associated with CSM scores. Carriers of the 3853G allele showed significantly higher CSM scores (P = 0.004, P = 0.009, and P = 0.001; total, morningness, and activity plan, respectively). There were no significant differences on CSM scores among genotypes and allele status of PER2 rs2304672. This result indicates that rs934945 of PER2 may be associated with diurnal preference in a Korean healthy population
Postural control anomalies in children with Tourette syndrome
The goal of the present study was to determine whether postural control is affected in Gilles-de-la-Tourette syndrome (TS). Center of pressure (COP) displacements were recorded in children with TS and unaffected siblings (7-16 yrs) in three conditions using a force platform: 1) Eyes-Open, 2) Eyes-Closed, 3) One-Leg standing with eyes open. The COP range and velocity were higher in children with TS than in unaffected siblings in all conditions. These differences could not be attributed to age, present tic severity, comorbidities (hyperactivity and compulsions) or medication. The data suggest that sub-clinical postural control anomalies are present in TS
Motor-Cortical Interaction in Gilles de la Tourette Syndrome
BACKGROUND: In Gilles de la Tourette syndrome (GTS) increased activation of the primary motor cortex (M1) before and during movement execution followed by increased inhibition after movement termination was reported. The present study aimed at investigating, whether this activation pattern is due to altered functional interaction between motor cortical areas. METHODOLOGY/PRINCIPAL FINDINGS: 10 GTS-patients and 10 control subjects performed a self-paced finger movement task while neuromagnetic brain activity was recorded using Magnetoencephalography (MEG). Cerebro-cerebral coherence as a measure of functional interaction was calculated. During movement preparation and execution coherence between contralateral M1 and supplementary motor area (SMA) was significantly increased at beta-frequency in GTS-patients. After movement termination no significant differences between groups were evident. CONCLUSIONS/SIGNIFICANCE: The present data suggest that increased M1 activation in GTS-patients might be due to increased functional interaction between SMA and M1 most likely reflecting a pathophysiological marker of GTS. The data extend previous findings of motor-cortical alterations in GTS by showing that local activation changes are associated with alterations of functional networks between premotor and primary motor areas. Interestingly enough, alterations were evident during preparation and execution of voluntary movements, which implies a general theme of increased motor-cortical interaction in GTS
Open-label study comparing the efficacy and tolerability of aripiprazole and haloperidol in the treatment of pediatric tic disorders
Due to its unique pharmacodynamic properties of dopamine partial agonist activity, and its association with few and mild side effects, aripiprazole is a candidate atypical antipsychotic for patients with tic disorders. This open-label study compared the efficacy and tolerability of aripiprazole with haloperidol, a typical antipsychotic widely used to treat patients with tic disorders. Forty-eight children and adolescents with tic disorders were recruited from the outpatient clinic at South Korea and treated with aripiprazole (initial dose, 5.0 mg/d; maximum dose 20 mg/d) or haloperidol (initial dose, 0.75 mg/d; maximum dose, 4.5 mg/d) for 8 weeks. Treatment efficacy was measured using the yale global tic severity scale (YGTSS), and tolerability was measured using the extrapyramidal symptom rating scale (ESRS) and an adverse effects checklist. Total tic scores as measured by the YGTSS decreased over time in both groups (p < 0.001) without any significant differences between groups. ESRS scores were significantly higher in the haloperidol group during the 4 weeks after commencement of medication (p < 0.05). These results indicate that aripiprazole may be a promising drug in the treatment of children and adolescents with tic disorders. Further controlled studies are needed to determine the efficacy and tolerability of aripiprazole in these patients
Risks of mining to salmonid-bearing watersheds
Mining provides resources for people but can pose risks to ecosystems that support cultural keystone species. Our
synthesis reviews relevant aspects of mining operations, describes the ecology of salmonid-bearing watersheds
in northwestern North America, and compiles the impacts of metal and coal extraction on salmonids and their
habitat. We conservatively estimate that this region encompasses nearly 4000 past producing mines, with
present-day operations ranging from small placer sites to massive open-pit projects that annually mine more
than 118 million metric tons of earth. Despite impact assessments that are intended to evaluate risk and inform
mitigation, mines continue to harm salmonid-bearing watersheds via pathways such as toxic contaminants, stream
channel burial, and flow regime alteration. To better maintain watershed processes that benefit salmonids, we
highlight key windows during the mining governance life cycle for science to guide policy by more accurately
accounting for stressor complexity, cumulative effects, and future environmental change.This review is based on an October 2019 workshop held at the University
of Montana Flathead Lake Biological Station (more information at https://flbs.umt.edu/
newflbs/research/working-groups/mining-and-watersheds/). We thank E. O’Neill and other
participants for valuable contributions. A. Beaudreau, M. LaCroix, P. McGrath, K. Schofield, and
L. Brown provided helpful reviews of earlier drafts. Three anonymous reviewers provided
thoughtful critiques that greatly improved the manuscript. The views expressed in this article
are those of the authors and do not necessarily represent the views or policies of the
U.S. Environmental Protection Agency. Our analysis comes from a western science perspective
and hence does not incorporate Indigenous knowledge systems. We acknowledge this gap
and highlight that the lands and waters we explore in this review have been stewarded by
Indigenous Peoples for millennia and continue to be so. Funding: The workshop was
cooperatively funded by the Wilburforce Foundation and The Salmon Science Network
funded by the Gordon and Betty Moore Foundation. Author contributions: C.J.S. led the
review process, writing, and editing. C.J.S. and E.K.S. co-organized the workshop. E.K.S. and
J.W.M. extensively contributed to all aspects of the review conceptualization, writing, and
editing. A.R.W., S.A.N., J.L.E., D.M.C., S.L.O., R.L.M., F.R.H., D.C.W., and J.W. significantly
contributed to portions of the review conceptualization, writing, and editing. J.C., M.Ca., M.Co.,
C.A.F., G.K., E.D.L., R.M., V.M., J.K.M., M.V.M., and N.S. provided writing and editing and are listed
alphabetically. Competing interests: The authors declare that they have no competing
interests. Data and materials availability: All data needed to evaluate the conclusions in the
paper are present in the paper and/or the Supplementary Materials.Ye
The genetics of addiction—a translational perspective
Addictions are serious and common psychiatric disorders, and are among the leading contributors to preventable death. This selective review outlines and highlights the need for a multi-method translational approach to genetic studies of these important conditions, including both licit (alcohol, nicotine) and illicit (cannabis, cocaine, opiates) drug addictions and the behavioral addiction of disordered gambling. First, we review existing knowledge from twin studies that indicates both the substantial heritability of substance-specific addictions and the genetic overlap across addiction to different substances. Next, we discuss the limited number of candidate genes which have shown consistent replication, and the implications of emerging genomewide association findings for the genetic architecture of addictions. Finally, we review the utility of extensions to existing methods such as novel phenotyping, including the use of endophenotypes, biomarkers and neuroimaging outcomes; emerging methods for identifying alternative sources of genetic variation and accompanying statistical methodologies to interpret them; the role of gene-environment interplay; and importantly, the potential role of genetic variation in suggesting new alternatives for treatment of addictions
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