Search results for "Neon"

Keypoints to Successful Newborn Hearing Screening. Thirty Years of Experience and Innovations

2021

Congenital deafness is a major pediatric problem, affecting about 1.5–3 per 1000 newborns. The early treatment through cochlear implantation and auditory rehabilitation has been a historic milestone. Early diagnosis of congenital deafness is an essential requirement to obtain the best results, which is achieved through neonatal screening, a diagnostic practice that we began systematically at the Hospital Clínico in Valencia (Spain) 30 years ago. Neonatal hearing screening is successful in most developed countries. Its implementation has been slow due to the multiple difficulties that its universal application entails since it involves several health professionals and must be carried out, in…

WIDENING THE SCOPE OF NEXT GENERATION SEQUENCING APPLICATIONS IN PEDIATRIC MEDICAL GENETICS

2018

Advances in DNA sequencing technologies through Next Generation Sequencing (NGS) approaches have enabled genome-wide discovery of chromosomal copy-number variants and single-nucleotide changes. NGS technologies are rapidly expanding our ability to identify and better define disease-causing mutations and genotype-phenotype correlation. Pediatric patients may particularly benefit from the introduction of these new technologies. Pediatricians must keep up with all these new skills, both in their residency programs as well as in their continuing medical education programs.

Adequate analgesia and sedation should be given to neonates during non‐emergency endotracheal intubation

2019

Clinical, pathologic, and genetic features of massive soft tissue neurofibromas in a Sicilian patient

2008

Abstract CONTEXT: Lipase maturation factor 1 (LMF1) gene is a novel candidate gene in severe hypertriglyceridemia. Lmf1 is involved in the maturation of lipoprotein lipase (LPL) and hepatic lipase in endoplasmic reticulum. To date only one patient with severe hypertriglyceridemia and related disorders was found to be homozygous for a nonsense mutation in LMF1 gene (Y439X). OBJECTIVE: The objective of the study was to investigate LMF1 gene in hypertriglyceridemic patients in whom mutations in LPL, APOC2, and APOA5 genes had been excluded. RESULTS: The resequencing of LMF1 gene led to the discovery of a novel homozygous nonsense mutation in one patient with severe hypertriglyceridemia and rec…

Determination of accurate rest frequencies and hyperfine structure parameters of cyanobutadiyne, HC5N

2020

Very accurate transition frequencies of HC$_5$N were determined between 5.3 and 21.4 GHz with a Fourier transform microwave spectrometer. The molecules were generated by passing a mixture of HC$_3$N and C$_2$H$_2$ highly diluted in neon through a discharge valve followed by supersonic expansion into the Fabry-Perot cavity of the spectrometer. The accuracies of the data permitted us to improve the experimental $^{14}$N nuclear quadrupole coupling parameter considerably and the first experimental determination of the $^{14}$N nuclear spin-rotation parameter. The transition frequencies are also well suited to determine in astronomical observations the local speed of rest velocities in molecula…

The SMILETRAP (Stockholm-Mainz-Ion-LEvitation-TRAP) facility

1996

Described in this paper is an experimental facility which measures atomic masses by using multiply charged ions from an electron beam ion source. The ions are injected into a Penning trap and the cyclotron frequencies measured. A precision of 2×10−9 has been reached using highly charged carbon, nitrogen, oxygen and neon.

SMILETRAP — Atomic mass measurements with ppb accuracy by using highly charged ions

1996

In the SMILETRAP facility externally produced highly charged ions are captured in a Penning trap and utilized for high precision measurements of atomic masses. Accuracy tests on a ppb level have been performed, using highly charged carbon, oxygen and neon ions. In all cases hydrogen ions served as a reference for the calibration and monitoring of the magnetic field in the trap. Deviations smaller than 3 ppb from the expected results were found in mass measurements of the16O and20Ne atomic masses. The proton atomic mass, determined from the reference measurements on hydrogen ions, is in good agreement with the accepted value [1]. A direct mass measurement on the86Kr-isotope, using trapped86K…

Charge radii of neon isotopes across the sd neutron shell

2011

We report on the changes in mean square charge radii of unstable neon nuclei relative to the stable Ne-20, based on the measurement of optical isotope shifts. The studies were carried out using collinear laser spectroscopy on a fast beam of neutral neon atoms. High sensitivity on short-lived isotopes was achieved thanks to nonoptical detection based on optical pumping and state-selective collisional ionization, which was complemented by an accurate determination of the beam kinetic energy. The new results provide information on the structural changes in the sequence of neon isotopes all across the neutron sd shell, ranging from the proton drip line nucleus and halo candidate Ne-17 up to the…

Measurement of the background in the NEMO 3 double beta decay experiment

2009

In the double beta decay experiment NEMO 3 a precise knowledge of the background in the signal region is of outstanding importance. This article presents the methods used in NEMO 3 to evaluate the backgrounds resulting from most if not all possible origins. It also illustrates the power of the combined tracking-calorimetry technique used in the experiment.

Exclusive measurements of nuclear breakup reactions of 17Ne

2014

F. Wamers et al.; 4 pags.; 2 figs. Open Access funded by Creative Commons Atribution Licence 2.0