Results 91 to 100 of about 181,707 (268)

International Dermoscopy Society consensus recommendations for the management of lentigo maligna

Journal of the European Academy of Dermatology and Venereology, EarlyView.
Lentigo maligna (LM) poses diagnostic and therapeutic challenges amid rising incidence and limited high‐quality evidence. This international expert consensus provides pragmatic, evidence‐based and expertise‐informed guidance on LM diagnosis and management.
Ana‐Maria Forsea, Riccardo Pampena, Bengu Nisa Akay, Zoe Apalla, Giuseppe Argenziano, Giulia Briatico, Ralph Braun, Horacio Cabo, Raul Cabrera, Cristina Carrera, Elisa Cinotti, Claudio Conforti, Enzo Errichetti, Gerardo Ferrara, Roberta Giuffrida, Stefania Guida, Pascale Guitera, Allan C. Halpern, Stephen Heyes, Rainer Hofmann‐Wellenhof, Angela M. Hong, Natalia Jaimes, Raimonds Karls, Harald Kittler, Teresa Kränke, Konstantinos Liopyris, Jie Liu, Caterina Longo, Josep Malvehy, Ashfaq A. Marghoob, Hoda Moneib, David Moreno Ramirez, Elvira Moscarella, Eduardo Nagore, Cristian Navarrete‐Dechent, John Paoli, Giovanni Pellacani, Ketty Peris, Susana Puig, Cliff Rosendahl, Lidia Rudnicka, Ahmed Sadek, Philippe Saiag, Gabriel Salerni, Alon Scope, Hans Peter Soyer, Michela V. Starace, Wilhelm Stolz, David L. Swanson, Luc Thomas, Philipp Tschandl, Iris Zalaudek, Aimilios Lallas   +52 more
wiley   +1 more source

Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry

Orphanet Journal of Rare Diseases
Background The low prevalence of rare diseases poses a significant challenge in advancing their understanding. This study aims to delineate the clinical and genetic characteristics of patients with rare eye diseases (RED) enrolled in the Spanish Rare ...
Alberto Lopez-de la Rosa, Juan J. Telleria, Manuel Posada de la Paz, Isabel M. Hermosilla-Gimeno, Miren Agurtzane Rivas, Raúl Gilabert, Rosa M. Coco-Martín   +6 more
doaj   +1 more source

Gene expression analysis method integration and co-expression module detection applied to rare glucide metabolism disorders using ExpHunterSuite

Scientific Reports, 2021
High-throughput gene expression analysis is widely used. However, analysis is not straightforward. Multiple approaches should be applied and methods to combine their results implemented and investigated.
Fernando M. Jabato, José Córdoba-Caballero, Elena Rojano, Carlos Romá-Mateo, Pascual Sanz, Belén Pérez, Diana Gallego, Pedro Seoane, Juan A. G. Ranea, James R. Perkins   +9 more
doaj   +1 more source

Interplay between glucose and palmitate uptake in breast carcinoma in vitro [PDF]

, 2018
One of the most studied tumor cells lines in vitro is the breast carcinoma MDA-MB-231 cell line. Several studies have proved its glycolytic profile, namely known as the Warburg effect.
Carrillo, Paloma, Martínez-Poveda, Beatriz, Medina, Miguel Ángel, Ocaña, Mª Carmen, Quesada, Ana R.   +4 more
core  

Online communication of patients with rare diseases in Spain [PDF]

, 2015
Introducción: Este estudio se centra en la estrategia de comunicación de las organizaciones de pacientes con enfermedades raras en internet. Objetivo: Analizar la utilización de las herramientas de comunicación en internet.
Carretón-Ballester, Carmen, Castillo, Antonio, López Villafranca, Paloma   +2 more
core   +3 more sources

Comparative Analysis of Dietary Patterns in Children With Phenylketonuria Phenotypes and Controls: Implications for Nutritional Status

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Individuals with phenylketonuria (PKU), caused by different variants of the phenylalanine hydroxylase gene, need to restrict their intake of phenylalanine. This study evaluated dietary patterns and physical activity levels in children with different PKU phenotypes compared to healthy controls. Eighty‐two children were recruited (22 classic PKU
Dolores Garcia‐Arenas, Aida Ormazabal, Paula Isern, Blanca Barrau‐Martinez, Arnau Gonzalez‐Rodriguez, Alba Tor‐Roca, Rafael Llorach, Jaume Campistol‐Plana, Mireia Urpi‐Sarda, Consortium PKU.cat.   +9 more
wiley   +1 more source

El marco europeo de la política de enfermedades raras [PDF]

, 2010
Comunicación presentada en el Curso "Marco actual y el impacto social de las enfermedades raras en España", dentro de los Cursos de verano UBU ...
Montserrat Moliner, Antoni
core  

Metodología JUNTS de creación de Webapps para el abordaje de barreras en la comunicación médico-paciente: el caso de la aplicación COMJuntos en el ámbito de las enfermedades raras

, 2021
El diagnostico (o sospecha) de una enfermedad rara pediatrica tiene un gran impacto emocional en las familias, y pone de manifiesto la necesidad de que adquieran nuevos conocimientos y habilidades en un corto periodo de tiempo. En ocasiones, las familias
Rosa Estopà Bagot, Manuel Armayones Ruiz   +1 more
semanticscholar   +1 more source

Esterification enhances carotenoid retention during bread‐making

Journal of the Science of Food and Agriculture, Volume 106, Issue 7, Page 4312-4319, May 2026.
Abstract BACKGROUND Carotenoids are plant‐derived antioxidants that contribute to human health and represent key quality traits in wheat‐based foods. However, they are highly unstable and prone to degradation during processing. Xanthophyll esterification has been identified as a natural mechanism that enhances carotenoid stability during grain storage.
María D Requena‐Ramírez, Cristina Rodríguez‐Suárez, Dámaso Hornero‐Méndez, Sergio G Atienza   +3 more
wiley   +1 more source

Enfermedades raras. Concepto, epidemiología y situación actual en España

Anales del Sistema Sanitario de Navarra, 2008
Enfermedad rara es aquella cuya prevalencia es inferior a 5 casos por cada 10.000 personas en la Comunidad Europea. La mayoría de los casos aparecen en la edad pediátrica, dada la alta frecuencia de enfermedades de origen genético y de anomalías ...
M Posada, C Martín-Arribas, A Ramírez, A Villaverde, A Abaitua   +4 more
doaj