Search results for "NCC"
showing 10 items of 12 documents
Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas
2012
Nephroblastoma (Wilms' tumor; WT) is the most common renal tumor of childhood. To date, several genetic abnormalities predisposing to WT have been identified in rare overgrowth syndromes. Among them, abnormal methylation of the 11p15 region, GPC3 and DIS3L2 mutations, which are responsible for Beckwith-Wiedemann, Simpson-Golabi-Behmel and Perlman syndromes, respectively. However, the underlying cause of WT remains unknown in the majority of cases. We report three unrelated patients who presented with WT in addition to a constitutional 9q22.3 microdeletion and dysmorphic/overgrowth syndrome. The size of the deletions was variable (ie, from 1.7 to 8.9 Mb) but invariably encompassed the PTCH1 …
No-core configuration-interaction model for the isospin- and angular-momentum-projected states
2016
[Background] Single-reference density functional theory is very successful in reproducing bulk nuclear properties like binding energies, radii, or quadrupole moments throughout the entire periodic table. Its extension to the multi-reference level allows for restoring symmetries and, in turn, for calculating transition rates. [Purpose] We propose a new no-core-configuration-interaction (NCCI) model treating properly isospin and rotational symmetries. The model is applicable to any nucleus irrespective of its mass and neutron- and proton-number parity. It properly includes polarization effects caused by an interplay between the long- and short-range forces acting in the atomic nucleus. [Metho…
Distrés emocional y problemas asociados en población oncológica adulta
2017
Objetivo: en este estudio se estima la prevalencia de distrés, se identifican los problemas asociados y se analiza el conocimiento y uso que hacen los pacientes sobre los recursos psicosociales disponibles en el centro hospitalario. Método: se lleva a cabo un estudio transversal en el que participan 203 pacientes oncológicos que están recibiendo tratamiento quimioterápico. En la evaluación se emplean el Inventario de Síntomas Breve-18 (BSI-18), el Listado de Problemas de NCCN y una encuesta sobre el conocimiento y uso de los recursos asistenciales del centro hospitalario. Resultados: la prevalencia de distrés en la muestra total es del 26%. Los problemas físicos son la principal fuente de d…
Acceso a la innovación farmacéutica en cáncer. Análisis sistemático
2022
Los precios de los fármacos oncológicos están creciendo de manera muy pronunciada y junto a un aumento considerable de la incidencia de esta patología, hacen que sea necesario abordar el tema de la asequibilidad, equidad y calidad del cuidado de la salud en cáncer si no queremos que los diferentes sistemas nacionales de salud entren en bancarrota. Se han generado muchas iniciativas cuyo objetivo es evaluar el beneficio clínico de las intervenciones y así, se financien aquellas intervenciones que aporten un mayor valor tanto para los pacientes oncológicos como para la sociedad en general. Esta tesis realiza un análisis de las diferentes herramientas e iniciativas puestas en marcha por los si…
On Using Conceptual Modeling for Ontologies
2004
Are database concepts and techniques suitable for ontology design and management? The question has been on the floor for some time already. It gets a new emphasis today, thanks to the focus on ontologies and ontology services due to the spread of web services as a new paradigm for information management. This paper analyzes some of the arguments that are relevant to the debate, in particular the question whether conceptual data models would adequately support the design and use of ontologies. It concludes suggesting a hybrid approach, combining databases and logic-based services.
Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA
2022
Contains fulltext : 248375.pdf (Publisher’s version ) (Closed access) BACKGROUND: Gitelman syndrome is the most frequent hereditary salt-losing tubulopathy characterized by hypokalemic alkalosis and hypomagnesemia. Gitelman syndrome is caused by biallelic pathogenic variants in SLC12A3, encoding the Na(+)-Cl(-) cotransporter (NCC) expressed in the distal convoluted tubule. Pathogenic variants of CLCNKB, HNF1B, FXYD2, or KCNJ10 may result in the same renal phenotype of Gitelman syndrome, as they can lead to reduced NCC activity. For approximately 10 percent of patients with a Gitelman syndrome phenotype, the genotype is unknown. METHODS: We identified mitochondrial DNA (mtDNA) variants in th…
A xanthogranulomatous process resembling residual disease on endof- treatment 18f-FDG-PET/CT and Whole Body Magnetic Resonance performed on a primary…
2016
We report the case of a woman, affected by breast diffuse large B-Cell lymphoma, who developed a xanthogranulomatous process wrongly interpreted as residual disease on 18F-FDG-PET/CTand Whole Body Magnetic Resonance after treatment with ibrutinib plus standard immunochemotherapy. Newer drugs, such as immunomodulatory agents and checkpoint inhibitors, have demonstrated high effectiveness on lymphoma, but are associated with unclear imaging features such as tumor flare or pseudo-progression, related to inflammatory reactions. Wide imaging techniques availability improves diagnostic possibilities. However, the awareness of the adopted treatment strategy and its possible implications on imaging…
Desarrollo de modelos de simulación para el aprendizaje de técnicas endodónticas
2016
INTRODUCCION 1.- IMPORTANCIA DE LOS MODELOS DE SIMULACIÓN EN LA DOCÉNCIA. Todo aprendizaje clínico requiere una formación preclínica previa. Es por ello que, en las distintas disciplinas médico-sanitarias, se usan simuladores que permiten a los/las estudiantes practicar sin consecuencias para los pacientes. Existen reportados en la bibliografía diversos estudios que demuestran los beneficios sobre el uso de simuladores en la docencia. 2.- SIMULADORES DISPONIBLES EN EL ÁMBITO ODONTOLÓGICO. Existen multitud de simuladores en el ámbito odontológico desde muy sofisticados que representan al paciente completo, hasta, otros mucho menos sofisticados pero más comúnmente usados, que tratan de adapta…
Development, modeling and simulation of test equipment for subsea choke valves
2014
Masteroppgave i mekatronikk MAS 500 Universitetet i Agder 2014 As a step toward being more e_ective and to improve test procedures, GE Oil & Gas wants to develop a workshoptool to automate the testing of Choke Valves. The Choke Valve Workshop Tool (CVWT) main functionis to operate the Hydraulic Stepping Actuator automatically by providing controlled pressure pulses. Electricaland hydraulic equipment will have an interface allowing the test equipment to be connected and used on awide range of Choke Valves. Test results will be transferred and stored automatically based on current need. Adetailed description of the planned CVWT including a complete control system and a Human Machine Interface…
The Decline in U.S. Output Growth Volatility: A Wavelet Analysis
2013
The aim of the paper is to determine whether or not the volatility of the growth rate of US output has changed in the period since late 1940's, and to attribute a precise date, if possible, to any such change. By applying the Discrete Wavelet Transform (DWT) to the annualized quarter-to quarter output growth series, we can test the homogeneity of the variance on a scale by scale basis without needing to fit a parametric model to the observed time series. A version of the Inclan and Tiao (1994) Normalised and Centered Cumulative Sum of Squares test, adapted to wavelet analysis, leads us to reject the null hypothesis of constant variance in the two levels of decomposition of the highest resol…