5 research outputs found

    Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium.

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    Three new therapies for spinal muscular atrophy (SMA) have been approved by the United States Food and Drug Administration and the European Medicines Agency since 2016. Although these new therapies improve the quality of life of patients who are symptomatic at first treatment, administration before the onset of symptoms is significantly more effective. As a consequence, newborn screening programs have been initiated in several countries. In 2018, we launched a 3-year pilot program to screen newborns for SMA in the Belgian region of Liège. This program was rapidly expanding to all of Southern Belgium, a region of approximately 55,000 births annually. During the pilot program, 136,339 neonates were tested for deletion of exon 7 of SMN1, the most common cause of SMA. Nine SMA cases with homozygous deletion were identified through this screen. Another patient was identified after presenting with symptoms and was shown to be heterozygous for the SMN1 exon 7 deletion and a point mutation on the opposite allele. These ten patients were treated. The pilot program has now successfully transitioned into the official neonatal screening program in Southern Belgium. The lessons learned during implementation of this pilot program are reported

    One single bout of low intensity isometric handgrip exercise reduces blood pressure during daily activities in healthy pre- and hypertensive individuals

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    To investigate the acute effect of one single session of isometric handgrip exercise (IHG) on blood pressure (BP) during daily life activities in healthy adults.status: publishe

    Oxidation barrier of Cu and Fe powder by atomic layer deposition

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    Atomic Layer Deposition (ALD) is a vapor based technique which allows to deposit uniform, conformal films with a thickness control at the atomic scale. In this research, Al2O3 coatings were deposited on micrometer-sized Fe and Cu powder (particles) using the thermal trimethylaluminum (TMA)/water (H2O) process in a rotary pump-type ALD reactor. Rotation of the powder during deposition was required to obtain a pinhole-free AID coating. The protective nature of the coating was evaluated by quantifying its effectiveness in protecting the metal particles during oxidative annealing treatments. The Al2O3 coated powders were annealed in ambient air while in-situ thermogravimetric analysis (TGA) and in-situ x-ray diffraction (XRD) data were acquired. The thermal stability of a series of Cu and Fe powder with different Al2O3 thicknesses were determined with TGA. In both samples a dear shift in oxidation temperature is visible. For Cu and Fe powder coated with 25 nor Al2O3, we observed an increase of the oxidation temperature with 300-400 degrees C. For the Cu powder a thin film of only 8 nm is required to obtain an initial increase in oxidation temperature of 200 degrees C. In contrast, for Fe powder a thicker coating of 25 nm is required. In both cases, the oxidation temperature increases with increasing thickness of the Al2O3 coating. These results illustrate that the Al2O3 thin film, deposited by the thermal ALD process (TMA/H2O) can be an efficient and pinhole-free barrier layer for micrometer-sized powder particles, provided that the powder is properly agitated during the process to ensure sufficient vapor-solid interaction
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