Faculty Opinions recommendation of Worldwide distribution of PSEN1 Met146Leu mutation: a large variability for a founder mutation.

Author(s):  
Elio Scarpini ◽  
Daniela Galimberti
Neurology ◽  
2010 ◽  
Vol 74 (10) ◽  
pp. 798-806 ◽  
Author(s):  
A. C. Bruni ◽  
L. Bernardi ◽  
R. Colao ◽  
E. Rubino ◽  
N. Smirne ◽  
...  

Author(s):  
W.L. Steffens ◽  
M.B. Ard ◽  
C.E. Greene ◽  
A. Jaggy

Canine distemper is a multisystemic contagious viral disease having a worldwide distribution, a high mortality rate, and significant central neurologic system (CNS) complications. In its systemic manifestations, it is often presumptively diagnosed on the basis of clinical signs and history. Few definitive antemortem diagnostic tests exist, and most are limited to the detection of viral antigen by immunofluorescence techniques on tissues or cytologic specimens or high immunoglobulin levels in CSF (cerebrospinal fluid). Diagnosis of CNS distemper is often unreliable due to the relatively low cell count in CSF (<50 cells/μl) and the binding of blocking immunoglobulins in CSF to cell surfaces. A more reliable and definitive test might be possible utilizing direct morphologic detection of the etiologic agent. Distemper is the canine equivalent of human measles, in that both involve a closely related member of the Paramyxoviridae, both produce mucosal inflammation, and may produce CNS complications. In humans, diagnosis of measles-induced subacute sclerosing panencephalitis is through negative stain identification of whole or incomplete viral particles in patient CSF.


Author(s):  
Trevor Simcox ◽  
Lauren Seo ◽  
Kevin Dunham ◽  
Shengnan Huang ◽  
Catherine Petchprapa ◽  
...  

Abstract Background The etiology of carpal tunnel syndrome (CTS) is multifactorial. Static mechanical characteristics of CTS have been described, but dynamic (muscular) parameters remain obscure. We believe that musculature overlying the transverse carpal ligament may have an effect on carpal tunnel pressure and may explain the prevalence of CTS in manual workers. Questions/Purposes To utilize magnetic resonance imaging (MRI) imaging to estimate the amount of muscle crossing the area of the carpal tunnel and to compare these MRI measurements in patients with and without documented CTS. Methods A case–control study of wrist MRI scans between January 1, 2018, and December 1, 2019, was performed. Patients with a diagnosis of CTS were matched by age and gender with controls without a diagnosis of CTS. Axial MRI cuts at the level of the hook of the hamate were used to measure the thenar and hypothenar muscle depth overlying the carpal tunnel. Muscle depth was quantified in millimeters at three points: midcapitate, capitate–hamate border, capitate–trapezoid border. Average depth was calculated by dividing the cross-sectional area (CSA) by the transverse carpal ligament width. Statistical analysis included Student's t-test, chi-square test, and Pearson's correlation coefficient calculation. Results A total of 21 cases and 21 controls met the inclusion criteria for the study. There were no significant differences in demographics between case and control groups. The location and depth of the musculature crossing the carpal tunnel were highly variable in all areas evaluated. A significantly positive correlation was found between proximal median nerve CSA and muscle depth in the capitate–hamate area (correlation coefficient = 0.375; p = 0.014). CSA was not significantly associated with chart documented CTS. Conclusions We found large variability in our measurements. This likely reflects true anatomical variation. The significance of our findings depends on the location of the muscles and the line of pull and their effect on the mechanics of the transverse carpal ligament. Future research will focus on refining measurement methodology and understanding the mechanical effect of the muscular structure and insertions on carpal tunnel pressure. Level of Evidence This is a Level 3, case–control study.


Author(s):  
S.M. Thomas ◽  
D. Bloomer ◽  
R.J. Martin ◽  
A. Horrocks

Applying water efficiently is increasingly important for dairy farmers and other users of surface and groundwater resources to maintain sustainable production. However, irrigation is rarely monitored. We used a questionnaire survey and measurements of five spray irrigation systems working in normal farm conditions to make observations on how efficiently irrigation is being managed. Survey results from 93 dairy farmers showed that, although the farmers believe they know how much water is being applied during irrigation, only 60% make measurements, and about 18% measure irrigation uniformity. Catch-can measurement of irrigation application depth for the different spray systems indicated large variability in application depths during irrigation, and field distribution uniformity ranged greatly between the different systems, decreasing in the order of centre pivots >travelling irrigators> K-line. Changes in irrigation system settings were sometimes made without considering application depths or uniformity. If our five case studies are typical, they may explain the large range of seasonal irrigation amounts recorded in the survey. We recommend that farmers monitor irrigation application depths and uniformity to help manage irrigation water efficiently and to help them estimate the value of irrigation to their enterprise. Keywords: distribution uniformity, water use efficiency, catch cans


2009 ◽  
Vol 5 (1) ◽  
pp. 67
Author(s):  
Lutz Buellesfeld ◽  
Lazar Mandinov ◽  
Eberhard Grube ◽  
◽  
◽  
...  

Functional mitral regurgitation affects a substantial proportion of patients with congestive heart failure due to myocardial infarction or dilated cardiomyopathy. Functional mitral regurgitation greatly increases morbidity and mortality. Surgical annuloplasty is the standard of care for symptomatic patients with moderate or severe functional mitral regurgitation; however, a large number of patients are refused surgery. Several percutaneous approaches have been developed to address the need for less invasive treatment of mitral annulus dilatation. Devices using coronary sinus to cinch the mitral annulus are relatively easy to use; however, a number of factors may limit their clinical application, such as suboptimal anatomical relationship between the coronary sinus and mitral annulus, risk of coronary artery compression, large variability in the coronary venous anatomy and conflict with other therapies such as ablation or cardiac resynchronisation. Direct mitral annuloplasty is anticipated to be more effective than the coronary sinus approaches; however, it has yet to prove its safety and efficacy in carefully designed clinical trials. The best candidates and the best timing for each percutaneous mitral annuloplasty therapy, whether direct or indirect, have yet to be identified.


2018 ◽  
Author(s):  
Joel Eduardo Martinez ◽  
Friederike Funk ◽  
Alexander Todorov

A fundamental psychological problem is identifying the idiosyncratic and shared contributions to stimulus evaluation. However, there is no established method for estimating these contributions and the existing methods have led to divergent estimates. Moreover, in many studies participants rate the stimuli only once, although at least two measurements are required to estimate idiosyncratic contributions. Here, participants rated faces or novel objects on four dimensions (beautiful, approachable, likeable, dangerous) for a total of ten blocks to better estimate the preferences of individual raters. First, we show that both intra-rater and inter-rater agreement – measures related to idiosyncratic and shared contributions, respectively – increase with repeated measures. Second, to find best practices, we compared estimates from correlation indices and variance component approaches on stimulus-generality, evaluation-generality, data preprocessing steps, and sensitivity to measurement error (a largely ignored issue). The correlation indices changed monotonically and nonlinearly with more repeated measures. Variance component analyses showed large variability in estimates from only two repeated measures, but stabilized with more measures. While there was general agreement among approaches, the correlation approach was problematic for certain stimulus types and evaluation dimensions. Our results suggest that variance component estimates are more reliable as long as one collects more than two repeated measures, which is not the current norm in psychological research, and can be implemented using mixed models with crossed random effects. Recommendations for analysis and interpretations are provided.


2020 ◽  
Author(s):  
Rini Chaturvedi ◽  
Jyoti Chhibber-Goel ◽  
Ishika Verma ◽  
Sreehari Gopinathan ◽  
Suhel Parvez ◽  
...  

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