381 research outputs found
Limitations in Predicting the Space Radiation Health Risk for Exploration Astronauts
Despite years of research, understanding of the space radiation environment
and the risk it poses to long-duration astronauts remains limited. There is a
disparity between research results and observed empirical effects seen in human
astronaut crews, likely due to the numerous factors that limit terrestrial
simulation of the complex space environment and extrapolation of human clinical
consequences from varied animal models. Given the intended future of human
spaceflight, with efforts now to rapidly expand capabilities for human missions
to the moon and Mars, there is a pressing need to improve upon the
understanding of the space radiation risk, predict likely clinical outcomes of
interplanetary radiation exposure, and develop appropriate and effective
mitigation strategies for future missions. To achieve this goal, the space
radiation and aerospace community must recognize the historical limitations of
radiation research and how such limitations could be addressed in future
research endeavors. We have sought to highlight the numerous factors that limit
understanding of the risk of space radiation for human crews and to identify
ways in which these limitations could be addressed for improved understanding
and appropriate risk posture regarding future human spaceflight.Comment: Accepted for publication by Nature Microgravity (2018
Using the J1-J2 Quantum Spin Chain as an Adiabatic Quantum Data Bus
This paper investigates numerically a phenomenon which can be used to
transport a single q-bit down a J1-J2 Heisenberg spin chain using a quantum
adiabatic process. The motivation for investigating such processes comes from
the idea that this method of transport could potentially be used as a means of
sending data to various parts of a quantum computer made of artificial spins,
and that this method could take advantage of the easily prepared ground state
at the so called Majumdar-Ghosh point. We examine several annealing protocols
for this process and find similar result for all of them. The annealing process
works well up to a critical frustration threshold.Comment: 14 pages, 13 figures (2 added), revisions made to add citations and
additional discussion at request of referee
Patient-Reported Side Effects of Intradetrusor Botulinum Toxin Type A for Idiopathic Overactive Bladder Syndrome
Objective: The aim of the study was a prospective assessment of patient-reported side effects in an open-label study after intradetrusor botulinum toxin injections for idiopathic overactive bladder (OAB). Patients and Methods: Botulinum toxin A injection was performed in 56 patients with idiopathic OAB. Patients were followed up for 6 months concerning side effects and patients' satisfaction. Results: Different types of side effects were assessed such as dry mouth (19.6%), arm weakness (8.9%), eyelid weakness (8.9%), leg weakness (7.1%), torso weakness (5.4%), impaired vision (5.4%) and dysphagia (5.4%). In all cases, symptoms were mild and transient. Urological complications such as gross hematuria (17.9%), acute urinary retention (8.9%) and acute urinary tract infection (7.1%) were noticed. In all cases, acute urinary retention was transient and treated with temporary intermittent self-catheterization. There was no statistically significant correlation between dosage and observed side effects. Patients' satisfaction rate was high (71.4%). Conclusion: Intradetrusor injection of botulinum toxin was associated with a high rate of neurourological side effects. In general, side effects were transient, mild and did not require special treatment. Copyright (C) 2010 S. Karger AG, Base
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion
Ataxia, causing imbalance, dizziness and falls, is a leading cause of neurological disability. We have recently identified a biallelic intronic AAGGG repeat expansion in replication factor complex subunit 1 (RFC1) as the cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) and a major cause of late onset ataxia. Here we describe the full spectrum of the disease phenotype in our first 100 genetically confirmed carriers of biallelic repeat expansions in RFC1 and identify the sensory neuropathy as a common feature in all cases to date. All patients were Caucasian and half were sporadic. Patients typically reported progressive unsteadiness starting in the sixth decade. A dry spasmodic cough was also frequently associated and often preceded by decades the onset of walking difficulty. Sensory symptoms, oscillopsia, dysautonomia and dysarthria were also variably associated. The disease seems to follow a pattern of spatial progression from the early involvement of sensory neurons, to the later appearance of vestibular and cerebellar dysfunction. Half of the patients needed walking aids after 10 years of disease duration and a quarter were wheelchair dependent after 15 years. Overall, two-thirds of cases had full CANVAS. Sensory neuropathy was the only manifestation in 15 patients. Sixteen patients additionally showed cerebellar involvement, and six showed vestibular involvement. The disease is very likely to be underdiagnosed. Repeat expansion in RFC1 should be considered in all cases of sensory ataxic neuropathy, particularly, but not only, if cerebellar dysfunction, vestibular involvement and cough coexist
The Curse of Online Friends: The Detrimental Effects of Online Social Network Usage on Well-Being
In the pursuit of happiness, it has been conventionally accepted that more friends would bring us a better quality of life. However, with the advent of social networking sites, unprecedented social influence has pervaded our daily lives. Across two studies we show that even though people feel more satisfied with their lives when they view the friends added on Facebook, reading friends’ posts reduces their well-being. This is because the more friends people have on Facebook, the more ostentatious information they see. The resultant drop in life satisfaction occurs because people fail to draw a connection between the number of friends and the amount of ostentatious information. Moreover, this decrease in life satisfaction is mediated by envy. We contribute to the literature on consumer well-being by identifying a novel and ubiquitous phenomenon of making social comparisons with hundreds of people, a phenomenon that arose with the advent of social networking and was previously outside the scope of social comparison literature
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS
Genomic technologies such as next-generation sequencing (NGS) are revolutionizing molecular diagnostics and clinical medicine. However, these approaches have proven inefficient at identifying pathogenic repeat expansions. Here, we apply a collection of bioinformatics tools that can be utilized to identify either known or novel expanded repeat sequences in NGS data. We performed genetic studies of a cohort of 35 individuals from 22 families with a clinical diagnosis of cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS). Analysis of whole-genome sequence (WGS) data with five independent algorithms identified a recessively inherited intronic repeat expansion [(AAGGG)exp] in the gene encoding Replication Factor C1 (RFC1). This motif, not reported in the reference sequence, localized to an Alu element and replaced the reference (AAAAG)11 short tandem repeat. Genetic analyses confirmed the pathogenic expansion in 18 of 22 CANVAS-affected families and identified a core ancestral haplotype, estimated to have arisen in Europe more than twenty-five thousand years ago. WGS of the four RFC1-negative CANVAS-affected families identified plausible variants in three, with genomic re-diagnosis of SCA3, spastic ataxia of the Charlevoix-Saguenay type, and SCA45. This study identified the genetic basis of CANVAS and demonstrated that these improved bioinformatics tools increase the diagnostic utility of WGS to determine the genetic basis of a heterogeneous group of clinically overlapping neurogenetic disorders
Overactive bladder – 18 years – Part II
ABSTRACT Traditionally, the treatment of overactive bladder syndrome has been based on the use of oral medications with the purpose of reestablishing the detrusor stability. The recent better understanding of the urothelial physiology fostered conceptual changes, and the oral anticholinergics – pillars of the overactive bladder pharmacotherapy – started to be not only recognized for their properties of inhibiting the detrusor contractile activity, but also their action on the bladder afference, and therefore, on the reduction of the symptoms that constitute the syndrome. Beta-adrenergic agonists, which were recently added to the list of drugs for the treatment of overactive bladder, still wait for a definitive positioning – as either a second-line therapy or an adjuvant to oral anticholinergics. Conservative treatment failure, whether due to unsatisfactory results or the presence of adverse side effects, define it as refractory overactive bladder. In this context, the intravesical injection of botulinum toxin type A emerged as an effective option for the existing gap between the primary measures and more complex procedures such as bladder augmentation. Sacral neuromodulation, described three decades ago, had its indication reinforced in this overactive bladder era. Likewise, the electric stimulation of the tibial nerve is now a minimally invasive alternative to treat those with refractory overactive bladder. The results of the systematic literature review on the oral pharmacological treatment and the treatment of refractory overactive bladder gave rise to this second part of the review article Overactive Bladder – 18 years, prepared during the 1st Latin-American Consultation on Overactive Bladder
- …