Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Learning user interests across heterogeneous document databases
krulwich @ andersen.com This paper discusses an intelligent agent that learns to identify documents of interest to particular users, in a distributed and dynamic database environment with databases consisting of mail messages, news articles, technical ...
Bruce Krulwich
core
El catàleg d'arquitectura del Centre de Documentació de Projectes d'Arquitectura de Catalunya
Es presenta el Centre de Documentació de Projectes d’Arquitectura de Catalunya (CDPAC) de la Universitat Politècnica de Catalunya (UPC), que desenvolupa un sistema catalogràfic informatitzat per a l’emmagatzematge, la cerca i la visualització per ...
Pouplana, Xavier, Poves, Lluís
doaj
FDG‐PET Associations With Disease Severity and Outcomes in NMDA‐Receptor IgG Autoimmune Encephalitis
ABSTRACT Background Patients with N‐methyl‐D‐aspartate (NMDA) receptor‐immunoglobulin G (IgG) autoimmune encephalitis (NMDAR‐IgG AE) demonstrate occipital lobe hypometabolism on baseline brain fluorodeoxyglucose‐positron emission tomography (bFDG‐PET).
Jonathan K. Lee +7 more
wiley +1 more source
Text categorization and similarity analysis: similarity measure, literature review
Document classification and provenance has become an important area of computer science as the amount of digital information is growing significantly. Organisations are storing documents on computers rather than in paper form.
Heese, Ralf +2 more
core
Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source
Automatic mapping of XML documents into relational database
Extensible Markup Language (XML) nowadays is one of the most important standard media used for exchanging and representing data through the Internet. Storing, updating and retrieving the huge amount of web services data such as XML is an attractive area ...
Dweib, Ibrahim Mohammad
core
Informatics Solutions for Prosumers connected to Smart Grids [PDF]
This paper gives a brief overview about electricity consumption optimization based on consumption profiles of electricity prosumers that are connected to smart grids.
Simona Vasilica OPREA
doaj
A Systematic Review and Meta‐Analysis of the Recurrence of Autoimmune Encephalitis
ABSTRACT Objective Autoimmune encephalitis (AE) is a disease with a potential for recurrence, and patients receive immunotherapy to prevent it. However, there is no consensus on the duration of immunotherapy. This study aimed to determine the recurrence rate and identify the risk factors for AE to provide guidance on the duration of immunotherapy ...
Shangkai Bai +5 more
wiley +1 more source
NoSQL Databases and Data Modeling for a Document-oriented NoSQL Database
NoSQL databases are an important component of Big Data for storing and retrieving large volumes of data. Traditional Relational Database Management Systems (RDBMS) use the ACID theorem for data consistency, whereas NoSQL Databases use a non ...
Robert Thomas Mason
core +1 more source

