Search results for "LSD"
showing 10 items of 14 documents
WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Datab…
2016
International audience; High-throughput next-generation sequencing such as whole-exome and whole-genome sequencing are being rapidly integrated into clinical practice. The use of these techniques leads to the identification of secondary variants for which decisions about the reporting or not to the patient need to be made. The American College of Medical Genetics and Genomics recently published recommendations for the reporting of these variants in clinical practice for 56 "actionable" genes. Among these, seven are involved in Marfan Syndrome And Related Disorders (MSARD) resulting from mutations of the FBN1, TGFBR1 and 2, ACTA2, SMAD3, MYH11 and MYLK genes. Here, we show that mutations col…
Preparation of Pd coated anodic alumina membranes for gas separation media
2007
Different procedures of Pd electroless deposition onto anodic alumina membranes were investigated to form a dense metal layer covering pores. The main difficulty was related to the amorphous nature of anodic alumina membranes, determining low chemical stability in solutions at pH > 9, where Pd plating works more efficiently. As a consequence, it was necessary to find the operative conditions allowing Pd deposition without damaging the membrane: to reduce alumina dissolution, the plating bath was buffered at pH 8.5 by addition of either NaHCO 3 or Na 2 B 4 O 7 ·H 2 O. Acceptable conversion of Pd was found after a deposition time of 3 min. Single and multiple deposition steps (each lasting 3 …
Nuevo régimen de responsabilidad de los servicios digitales que actúan como intermediarios a la luz de la propuesta de Reglamento relativo a un merca…
2021
El pasado 15 de diciembre de 2020, la Comisión Europea presentó las Propuestas de Reglamento relativo a un mercado único de servicios digitales (Ley de Servicios Digitales) y sobre mercados competitivos y justos en el sector digital (Ley de Mercados Digitales) , que modernizan el régimen aplicable a los prestadores de servicios de intermediación . Esenciales en el entramado de internet, los intermediarios son agentes fundamentales de la transformación digital de estas últimas décadas. Aunque constantemente cuestionados por el poder e influencia que algunas compañías (como Google, Apple, Amazon o Facebook, por citar algún ejemplo de las big tech) ostentan en el entorno digital, lo cierto es …
New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review
2020
Potocki-Shaffer syndrome (PSS) is a rare non-recurrent contiguous gene deletion syndrome involving chromosome 11p11.2. Current literature implies a minimal region with haploinsufficiency of three genes, ALX4 (parietal foramina), EXT2 (multiple exostoses), and PHF21A (craniofacial anomalies, and intellectual disability). The rest of the PSS phenotype is still not associated with a specific gene. We report a systematic review of the literature and included two novel cases. Because deletions are highly variable in size, we defined three groups of patients considering the PSS-genes involved. We found 23 full PSS cases (ALX4, EXT2, and PHF21A), 14 cases with EXT2-ALX4, and three with PHF21A only…
Latvijas ietekmīgāko politisko partiju saimnieciskā politika I un II Saeimas laikā
2015
Bakalaura darba tēma ietver Latvijas Republikai aktuālo politisko partiju politikas un valsts saimnieciskās attīstības mijiedarbību. Darbā analizēta Latvijas parlamentārisma perioda vadošo politisko partiju – Latviešu Zemnieku Savienības un Latvijas Sociāldemokrātiskās strādnieku partijas – atbalstītā saimnieciskā politika un tās sasaiste ar valsts tautsaimniecisko problemātiku starpkaru perioda I un II Saeimas laikā (1922.–1928.), pievēršoties pretrunām to skatījumā un ideoloģiskajām ievirzēm valsts tautsaimniecības veidošanā. Partiju ideoloģiskās nostādnes, taktika elektorāta iegūšanai, atšķirības tautsaimniecības prioritātēs un piedāvātajās taktikās problēmu risināšanai veidoja pamatu ab…
Preoperative evaluation of peripheral nerve injuries: What is the place for ultrasound?
2016
OBJECTIVE The purpose of this study was to evaluate the usefulness of ultrasound in the preoperative workup of peripheral nerve lesions and illustrate how nerve ultrasonography can be integrated in routine clinical and neurophysiological evaluation and in the management of focal peripheral nerve injuries. The diagnostic role and therapeutic implications of ultrasonography for different neuropathies are described. METHODS The authors analyzed the use of ultrasound in 119 entrapment, tumoral, posttraumatic, or postsurgical nerve injuries of limbs evaluated in 108 patients during 2013 and 2014. All patients were candidates for surgery, and in all cases the evaluation included clinical examina…
Children left unattended in vehicles in Italy: look behind you before leaving your car
2018
In recent years, the number of children left unattended in parked vehicles is increasing and, according to the Child Abuse and Prevention Treatment Act, this phenomenon can be considered a form of neglect. In addition, the exposure of children to warm environments could cause their death from hyperthermia and heat stroke. Children are more vulnerable than adults to heat for three reasons: children have a high surface area body mass ratio, a less heat dissipation from center of the body to periphery and a less sweat production. In addition, a study was carried out to evaluate the effects of stress on Working Memory, whose alteration could bring a parent to forget his child in the car. In Ita…
Latvijas arheologu atskaites sesija par 2016.-2017.gada izrakumu rezultātiem: referātu tēzes
2018
Evaluation of the effect of chance correlations on variable selection using Partial Least Squares -Discriminant Analysis
2013
Variable subset selection is often mandatory in high throughput metabolomics and proteomics. However, depending on the variable to sample ratio there is a significant susceptibility of variable selection towards chance correlations. The evaluation of the predictive capabilities of PLSDA models estimated by cross-validation after feature selection provides overly optimistic results if the selection is performed on the entire set and no external validation set is available. In this work, a simulation of the statistical null hypothesis is proposed to test whether the discrimination capability of a PLSDA model after variable selection estimated by cross-validation is statistically higher than t…