Clinical Classification of Borderline Cases in the Family Study of Essential Tremor: An Analysis of Phenotypic Features

Background: In genetic research on essential tremor (ET), certain individuals may be particularly challenging to categorize diagnostically. Methods: In the Family Study of Essential Tremor (>200 enrollees), 28 participants with borderline clinical findings who did not meet strict criteria for ET were assigned final diagnoses of ET. We scrutinized the clinical features of these cases and the sensitivity/specificity of certain features that best separated them from 19 unaffected individuals. Results: Borderline ET cases differed from unaffected individuals in eight features: total tremor score, at least one kinetic tremor rating ≥1.5, at least one kinetic tremor rating ≥1.5 in the dominant arm, tremor rating during spiral drawing ≥1.5, higher spiral axis score, head tremor, complaint of tremor, and comment on tremor by others. The combination of at least one kinetic tremor rating ≥1.5 in the dominant arm and the presence of at least three of the remaining seven features predicted the clinician‐assigned diagnosis in 88.6% of borderline ET vs. unaffected individuals (sensitivity 84.6%, specificity 94.4%). Discussion: In a family study, a small number of clinical features characterized borderline ET, and a particular combination of these separated the majority of these borderline cases from normals. These analyses may help researchers minimize diagnostic misclassification

Transient, Isolated Head Tremor in “Unaffected” Individuals: Is Essential Tremor an Even More Prevalent Disease Than We Suppose?

Background: Mild and transient head tremor may sometimes be observed in otherwise tremor-free relatives of essential tremor (ET) cases, although its prevalence is unclear. A diagnostic question is whether this transient, isolated head tremor, often observed as no more than a wobble, is an early manifestation of ET or whether it is a normal finding. A direct comparison with controls is needed.Methods: Two hundred and forty-one first-degree relatives of ET cases (FD-ET) and 77 spousal controls (Co) were enrolled in a study of ET. Each underwent a detailed evaluation that included a tremor history and videotaped neurological examination. None of the enrollees reported tremor, had a prior diagnosis of ET, or had significant tremor on screening spirals. All videotaped examinations were initially reviewed by a movement disorder neurologist blinded to subject type, and among those with head tremor on examination, co-reviewed by two additional movement disorders neurologists.Results: Twenty-six (10.8, 95% Confidence interval [CI] = 7.5–15.3%) of 241 FD-ET vs. 2 (2.6, 95% CI = 0.7–9.0%) of 77 Co had isolated, transient head tremor (odds ratio = 4.54, 95% CI = 1.05–19.57, p = 0.04). No enrollee had significant upper extremity tremor and none met inclusion criteria for ET based on the presence of upper extremity tremor. With one exception, head tremor occurred during or after phonation. It was always transient (generally a single back and forth wobble) and rare (observed briefly on one or two occasions during the videotaped examination) and had a faster frequency, lower amplitude and a different quality than voluntary head shaking.Conclusion: The basis for the observed isolated head tremor is unknown, but it could be an early feature of ET in ET families.Indeed, one-in-ten otherwise unaffected first-degree relatives of ET cases exhibited such tremor. To a far lesser extent it was also observed in “unaffected” controls. In both, it is likely a sign of early, emerging, undiagnosed ET, although follow-up studies are needed to confirm this. If it were ET, it would indicate that the prevalence of ET may be considerably higher than previously suspected

Impacts of elevated atmospheric CO₂ on nutrient content of important food crops.

One of the many ways that climate change may affect human health is by altering the nutrient content of food crops. However, previous attempts to study the effects of increased atmospheric CO2 on crop nutrition have been limited by small sample sizes and/or artificial growing conditions. Here we present data from a meta-analysis of the nutritional contents of the edible portions of 41 cultivars of six major crop species grown using free-air CO2 enrichment (FACE) technology to expose crops to ambient and elevated CO2 concentrations in otherwise normal field cultivation conditions. This data, collected across three continents, represents over ten times more data on the nutrient content of crops grown in FACE experiments than was previously available. We expect it to be deeply useful to future studies, such as efforts to understand the impacts of elevated atmospheric CO2 on crop macro- and micronutrient concentrations, or attempts to alleviate harmful effects of these changes for the billions of people who depend on these crops for essential nutrients

A multi-country level analysis of the environmental attitudes and behaviours among young consumers

Environmental issues have become more prominent internationally and are increasingly featured in discussion by governments, business and academics. This paper presents the results of a study which examines the concerns for environmental issues and purchase behaviours of a sample of 1173 young consumers in England, Germany, Portugal and Spain; countries which represent different realities in terms of economic development, social context and cultural issues. An analysis of the differences between the respondents from the four countries regarding concepts such as man-nature orientation, generativity, environmental concern, consumer perceived effectiveness, conservation behaviour and environmentally-friendly buying behaviour is presented. The results obtained confirm the existence of significant differences between countries for almost all variables. © 2013 Copyright Taylor and Francis Group, LLC

Rectifying the output of vibrational piezoelectric energy harvester using quantum dots

Piezoelectric energy harvester scavenges mechanical vibrations and generates electricity. Researchers have strived to optimize the electromechanical structures and to design necessary external power management circuits, aiming to deliver high power and rectified outputs ready for serving as batteries. Complex deformation of the mechanical structure results in charges with opposite polarities appearing on same surface, leading to current loss in the attached metal electrode. External power management circuits such as rectifiers comprise diodes that consume power and have undesirable forward bias. To address the above issues, we devise a novel integrated piezoelectric energy harvesting device that is structured by stacking a layer of quantum dots (QDs) and a layer of piezoelectric material. We find that the QD can rectify electrical charges generated from the piezoelectric material because of its adaptable conductance to the electrochemical potentials of both sides of the QDs layer, so that electrical current causing energy loss on the same surface of the piezoelectric material can be minimized. The QDs layer has the potential to replace external rectification circuits providing a much more compact and less power-consumption solution

Risk of Parkinson disease in carriers of parkin mutations : estimation using the kin-cohort method

Objective: To estimate the risk of Parkinson disease (PD) in individuals with mutations in the Parkin gene. Design: We assessed point mutations and exon deletions and duplications in the Parkin gene in 247 probands with PD (age at onset 50 years) and 104 control probands enrolled in the Genetic Epidemiology of Parkinson's Disease (GEPD) study. For each first-degree relative, a consensus diagnosis of PD was established. The probability that each relative carried a mutation was estimated from the proband's Parkin carrier status using Mendelian principles and from the relationship of the relative to the proband. Setting: Tertiary care movement disorders center. Patients: Cases, controls, and their first-degree relatives were enrolled in the GEPD study. Main Outcome Measures: Estimated age-specific penetrance in first-degree relatives. Results: Parkin mutations were identified in 25 probands with PD (10.1%), 18 (72.0%) of whom were heterozygotes. One Parkin homozygote was reported in 2 siblings with PD. The cumulative incidence of PD to age 65 years in carrier relatives (age-specific penetrance) was estimated to be 7.0% (95% confidence interval, 0.4%-71.9%), compared with 1.7% (95% confidence interval, 0.8%-3.4%) in noncarrier relatives of the cases (P = .59) and 1.1% (95% confidence interval, 0.3%-3.4%) in relatives of the controls (compared with noncarrier relatives, P = .52). Conclusions: The cumulative risk of PD to age 65 years in a noncarrier relative of a case with an age at onset of 50 years or younger is not significantly greater than the general population risk among controls. Age-specific penetrance among Parkin carriers, in particular heterozygotes, deserves further study. Mutations in the Parkin gene (PARK2; GenBank AB009973) are associated primarily with early-onset Parkinson disease (PD), defined as age at onset (AAO) ranging from 45 years or younger to 55 years or younger, but have also been described in PD cases with an AAO older than 70 years. In PD cases with an AAO of 45 years or younger with a mode of inheritance consistent with autosomal recessive transmission, the frequency of Parkin mutations may be as high as 49%, whereas in cases without a family history of PD the range is 15% to 18%. Age at onset is inversely correlated with the frequency of Parkin mutations in both familial and sporadic cases. Several studies have compared the AAO of PD in heterozygous, compound heterozygous, and homozygous Parkin mutation carriers and found that heterozygous cases, both familial and sporadic, have an older AAO. Heterozygous Parkin mutation carriers are more frequently reported among sporadic than familial cases. Information on the risk of PD in individuals who carry Parkin mutations in either the homozygous, compound heterozygous, or heterozygous state (or penetrance) is essential for genetic counseling. The penetrance of Parkin mutations has only been reported for isolated families. Most of the previous study designs sampled PD cases based on family history of PD, which would bias penetrance estimates upwards. To obtain an unbiased estimate of risk, a population-based random sample would be desirable, but Parkin mutations are so rare in the population that such a sample would have to be extremely large to obtain sufficient precision in penetrance estimates. To obtain unbiased estimates of the risk of PD in Parkin carriers despite the low population frequency of Parkin mutations, we used a kin-cohort study design applied to participants in the Genetic Epidemiology of Parkinson's Disease (GEPD) study. The kin-cohort design is highly efficient for estimating penetrance because the relatives' mutation status is not required for the analyses, thus reducing costs for genetic analysis

Case-control study of the parkin gene in early-onset Parkinson disease

Background: Mutations in parkin are estimated to account for as much as 50% of familial Parkinson disease (PD) and 18% of sporadic PD. Single heterozygous mutations in parkin in both familial and sporadic cases may also increase susceptibility to PD. To our knowledge, all previous studies have been restricted to PD cases; this is the first study to systematically screen the parkin coding regions and exon deletions and duplications in controls. Objective: To determine the frequency and spectrum of parkin variants in early-onset PD cases (aged 50 years) and controls participating in a familial aggregation study. Patients and Methods: We sequenced the parkin gene in 101 cases and 105 controls. All cases and controls were also screened for exon deletions and duplications by semiquantitative multiplex polymerase chain reaction. Results: Thirteen (12.9% [95% confidence interval, 7%-21%]) of the 101 cases had a previously described parkin mutation: 1 was homozygous, 11 were heterozygous, and 1 was a compound heterozygote. The mutations Arg42Pro (exon 2) and Arg275Trp (exon 7) were recurrent. The previously reported synonymous substitution Leu261Leu (c.884A>G) was identified in 4 (3.9%) of 101 cases and 2 (2%) of 105 controls (P = .44). Excluding the synonymous substitution Leu261Leu (heterozygotes), 10 (9.9% [95% confidence interval, 4.6%-17.5%]) carried mutations. Conclusions: The frequency of mutations among cases that were not selected based on family history of PD is similar to what has previously been reported in sporadic PD. The similar frequency of Leu261Leu in cases and controls suggests it is a normal variant rather than a disease-associated mutation. We confirmed that heterozygous parkin mutations may increase susceptibility for early-onset PD

Sustainability marketing myopia: the lack of sustainability communication persuasiveness

Sustainability communication in accommodation businesses tends to be factual and descriptive, as companies are concerned with product-based messages that focus on what they do; they appear not to understand the potential benefits of constructing messages that would influence consumers to behave more sustainably, which is effectively sustainability marketing myopia. An analysis of 1,835 sustainability messages from award-winning businesses shows that messages communicate facts not emotions, and benefits for society as a whole rather than for the individual customer. The messages are explicit, but passive and not experiential hence they positively affect the cognitive but not the affective image of the business. The lack of message normalization and customer focus reinforces the image of sustainability being a niche concern. We reflect on the reasons for these shortcomings and highlight opportunities to improve persuasive communication, which we have now applied commercially in more than 400 website analyses and 60 training courses

Developing a National Alfalfa Information System

Using state-of-the-art telecommunication technologies, this project is developing a comprehensive knowledge resource for alfalfa (Medicago sativa L.); the National Alfalfa Information System (NAIS). This project will serve as an improved model for Extension educational programs. Alfalfa is the most important forage crop in the USA and grown worldwide for feeding millions of livestock and in many cropping systems. As a legume, it is important in sustaining the environment and the productivity of agriculture. Information needs are present in every state and internationally. The NAIS is being developed through national and international cooperation, putting the best science-based alfalfa information and expertise at the fingertips of producers, consultants, extension workers, instructors, researchers, and users. Collaboratively developed materials will reduce duplication of effort. To make the knowledge easy-to-use, educational design, communication, and information science professionals are working with alfalfa experts in creating a WWW system and Web-aware CD-ROM. To ensure content quality, peer-review by members of multiple professional societies is included. A significant result will be around-the-clock availability of up-to-date, easy-to-use, and peerreviewed information. Shared workload and the peer-review process can influence faculty morale, efficiency, and effectiveness, an adjunct to maximizing the utilization of alfalfa worldwide by making the best information readily available