516 research outputs found
Autoinflation compared to ventilation tubes for treating chronic otitis media with effusion
Background Otitis media with effusion (OME) is the most common cause of acquired hearing loss and surgery in children. Autoinflation has been suggested as an alternative treatment for OME. Objectives The aim of the study was to compare treatment outcome with a new autoinflation device versus ventilation tube (VT) surgery or watchful waiting in children with chronic bilateral OME from the waiting list for surgery. Methods Forty-five children performed autoinflation during four weeks, forty-five were submitted to VT surgery, and twenty-three were enrolled as control group. Tympanometry was performed in the autoinflation and the control groups and audiometry in all groups. Results An equivalent hearing improvement was achieved in the autoinflation and the VT group at one (p=.19), six (p=.23) and twelve (p=.31) months with no significant alteration in the control group. In the autoinflation group 80% of the children avoided surgery and no complications were reported compared to 34% complication rate in the VT group. Conclusion Autoinflation achieved an equivalent improvement in hearing thresholds compared to VT surgery for treating OME. Significance Autoinflation may be a reasonable first-line treatment for children with OME to potentially avoid surgery. Article Summary: The Moniri autoinflation device is well tolerated and an effective alternative to ventilation tubes for treatment of chronic otitis media with effusion in young children. What's known on this subject: Previous studies have shown that autoinflation may reduce effusion in children with otitis media with effusion; however limited compliance to treatment, lack of adequate hearing evaluation, short follow-up time and also lack of comparative data to ventilation tube surgery have been reported. What this study adds: A new device was developed to allow for the performance of autoinflation in young children. The effect is compared to ventilation tube surgery and equivalent improvement in hearing is achieved in the short and the long-term follow-up.info:eu-repo/semantics/publishedVersio
Ariel - Volume 9 Number 3
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Semirelativistic stability of N-boson systems bound by 1/r pair potentials
We analyze a system of self-gravitating identical bosons by means of a
semirelativistic Hamiltonian comprising the relativistic kinetic energies of
the involved particles and added (instantaneous) Newtonian gravitational pair
potentials. With the help of an improved lower bound to the bottom of the
spectrum of this Hamiltonian, we are able to enlarge the known region for
relativistic stability for such boson systems against gravitational collapse
and to sharpen the predictions for their maximum stable mass.Comment: 11 pages, considerably enlarged introduction and motivation,
remainder of the paper unchange
Caching and Interpolated Likelihoods: Accelerating Cosmological Monte Carlo Markov Chains
We describe a novel approach to accelerating Monte Carlo Markov Chains. Our
focus is cosmological parameter estimation, but the algorithm is applicable to
any problem for which the likelihood surface is a smooth function of the free
parameters and computationally expensive to evaluate. We generate a high-order
interpolating polynomial for the log-likelihood using the first points gathered
by the Markov chains as a training set. This polynomial then accurately
computes the majority of the likelihoods needed in the latter parts of the
chains. We implement a simple version of this algorithm as a patch (InterpMC)
to CosmoMC and show that it accelerates parameter estimatation by a factor of
between two and four for well-converged chains. The current code is primarily
intended as a "proof of concept", and we argue that there is considerable room
for further performance gains. Unlike other approaches to accelerating
parameter fits, we make no use of precomputed training sets or special choices
of variables, and InterpMC is almost entirely transparent to the user.Comment: v2 Trivial Latex change. Source code:
http://easther.physics.yale.edu/interpmc.htm
Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes
Objective: To expand the clinical spectrum of lysyl-tRNA synthetase (KARS) gene–related diseases, which so far includes Charcot-Marie-Tooth disease, congenital visual impairment and microcephaly, and nonsyndromic hearing impairment.
Methods: Whole-exome sequencing was performed on index patients from 4 unrelated families with leukoencephalopathy. Candidate pathogenic variants and their cosegregation were confirmed by Sanger sequencing. Effects of mutations on KARS protein function were examined by aminoacylation assays and yeast complementation assays.
Results: Common clinical features of the patients in this study included impaired cognitive ability, seizure, hypotonia, ataxia, and abnormal brain imaging, suggesting that the CNS involvement is the main clinical presentation. Six previously unreported and 1 known KARS mutations were identified and cosegregated in these families. Two patients are compound heterozygous for missense mutations, 1 patient is homozygous for a missense mutation, and 1 patient harbored an insertion mutation and a missense mutation. Functional and structural analyses revealed that these mutations impair aminoacylation activity of lysyl-tRNA synthetase, indicating that de- fective KARS function is responsible for the phenotypes in these individuals.
Conclusions: Our results demonstrate that patients with loss-of-function KARS mutations can manifest CNS disorders, thus broadening the phenotypic spectrum associated with KARS-related disease
Guidelines for implementation of cystic fibrosis newborn screening programs: Cystic Fibrosis Foundation workshop report
Newborn screening for cystic fibrosis offers the opportunity for early intervention and improved outcomes. This summary, resulting from a workshop sponsored by the Cystic Fibrosis Foundation to facilitate implementation of widespread high quality cystic fibrosis newborn screening, outlines the steps necessary for success based on the experience of existing programs. Planning should begin with a workgroup composed of those who will be responsible for the success of the local program, typically including the state newborn screening program director and cystic fibrosis care center directors. The workgroup must develop a screening algorithm based on program resources and goals including mechanisms available for sample collection, regional demographics, the spectrum of cystic fibrosis disease to be detected, and acceptable failure rates of the screen. The workgroup must also ensure that all necessary guidelines and resources for screening, diagnosis, and care be in place prior to cystic fibrosis newborn screening implementation. These include educational materials for parents and primary care providers; systems for screening and for providing diagnostic testing and counseling for screen-positive infants and their families; and protocols for care of this unique population. This summary explores the benefits and risks of various screening algorithms, including complex situations that can occur involving unclear diagnostic results, and provides guidelines and sample materials for state newborn screening programs to develop and implement high quality screening for cystic fibrosis
Diagnosis of Cystic Fibrosis in Screened Populations
Objective
Cystic fibrosis (CF) can be difficult to diagnose, even when newborn screening (NBS) tests yield positive results. This challenge is exacerbated by the multitude of NBS protocols, misunderstandings about screening vs diagnostic tests, and the lack of guidelines for presumptive diagnoses. There is also confusion regarding the designation of age at diagnosis.
Study design
To improve diagnosis and achieve standardization in definitions worldwide, the CF Foundation convened a committee of 32 experts with a mission to develop clear and actionable consensus guidelines on diagnosis of CF with an emphasis on screened populations, especially the newborn population. A comprehensive literature review was performed with emphasis on relevant articles published during the past decade.
Results
After reviewing the common screening protocols and outcome scenarios, 14 of 27 consensus statements were drafted that apply to screened populations. These were approved by 80% or more of the participants.
Conclusions
It is recommended that all diagnoses be established by demonstrating dysfunction of the CF transmembrane conductance regulator (CFTR) channel, initially with a sweat chloride test and, when needed, potentially with newer methods assessing membrane transport directly, such as intestinal current measurements. Even in babies with 2 CF-causing mutations detected via NBS, diagnosis must be confirmed by demonstrating CFTR dysfunction. The committee also recommends that the latest classifications identified in the Clinical and Functional Translation of CFTR project [http://www.cftr2.org/index.php] should be used to aid with CF diagnosis. Finally, to avoid delays in treatment, we provide guidelines for presumptive diagnoses and recommend how to determine the age of diagnosis
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