Results 41 to 50 of about 2,368 (115)

Regulation of PHOX2B gene expression by the long non‐coding natural antisense RNA PHOX2B‐AS1

The FEBS Journal, Volume 293, Issue 12, Page 3502-3527, June 2026.
PHOX2B is a transcription factor essential for autonomic nervous system development. We identify and characterize PHOX2B‐AS1, a human long non‐coding antisense transcript at the PHOX2B locus, along with its murine counterpart. Our findings reveal bidirectional transcription and reciprocal regulation: PHOX2B activates PHOX2B‐AS1, whereas PHOX2B‐AS1 ...
Simona Di Lascio, Ana Lucia Cuadros Gamboa, Martina Bertocchi, Filippo Chiesa, Francesca Cargnin, Ettore Mosca, Paride Pelucchi, Viviana Tritto, Stefania Corti, Isabella Ceccherini, Paola Riva, Roberta Benfante, Diego Fornasari   +12 more
wiley   +1 more source

Families of children with Down syndrome: feelings, lifestyle and parental stress

Interação em Psicologia, 2006
Considerando a importância de se conhecer os processos  familiares para a compreensão do desenvolvimento de crianças que apresentam deficiência, este estudo comparativo descreve aspectos do funcionamento familiar e do desenvolvimento de crianças com e ...
Nara Liana Pereira-Silva, Maria Auxiliadora Dessen   +1 more
doaj   +1 more source

Characterizing circadian rest–activity rhythm patterns across Alzheimer's disease continuum in Down syndrome

Alzheimer's &Dementia, Volume 22, Issue 5, May 2026.
Abstract INTRODUCTION Sleep and circadian rest–activity rhythm (RAR) disruption may bidirectionally relate to Alzheimer's disease (AD). Down syndrome (DS), the most common genetic cause of AD, presents sleep disorders, yet RAR patterns across the DS‐associated AD continuum remain uncharacterized. METHODS We analyzed 7‐day wrist actigraphy in 140 adults
Sandra Giménez, Lídia Vaqué‐Alcázar, Susana Clos, Bessy Benejam, Maria Carmona‐Iragui, Lucía Maure‐Blesa, Laura Videla, Nuole Zhu, Miren Altuna, Javier Arranz, Isabel Barroeta, Íñigo Rodríguez‐Baz, Alexandre Bejanin, Ana Bueno, Susana Fernandez, Laura del Hoyo Soriano, Lucia Pertierra, Daniel Alcolea, Bruce Miller, Lea T. Grinberg, Joaquin Ruiz, Christos Panagiotis Lisgaras, Hau‐Tieng Wu, Alberto Lleó, Ricardo S. Osorio, Esther M. Blessing, Juan Fortea   +26 more
wiley   +1 more source

Aplicación de un nuevo programa de habilidades sociales a un grupo de adultos con discapacidad intelectual

Revista Española de Discapacidad, 2016
El presente estudio tiene como fin elaborar y aplicar un nuevo programa de entrenamiento para fomentar el uso de habilidades sociales (HHSS) en un grupo de personas adultas con discapacidad intelectual (DI).
Fernanda Sequera Fernández, Eva María Padilla Muñoz, José Manuel Chirino Núñez, José Antonio Pérez-Gil   +3 more
doaj  

Estudo retrospectivo da obstrução congênita do ducto nasolacrimal na síndrome de Down: clínica e tratamento [PDF]

Revista Brasileira de Oftalmologia
RESUMO Objetivo Determinar a incidência da obstrução congênita do ducto nasolacrimal em crianças com síndrome de Down e seu tratamento. Métodos Estudo retrospectivo observacional de 33 prontuários de crianças com síndrome de Down, atendidas em um ...
Silvia Helena Tavares Lorena, Letizia Calabró Lorena Pelegrini de Oliveira   +1 more
doaj   +1 more source

Peak width of skeletonized mean diffusivity reveals early and multifactorial white matter injury across sporadic and Down syndrome–associated Alzheimer's disease

Alzheimer's &Dementia, Volume 22, Issue 5, May 2026.
Abstract INTRODUCTION This study investigates the evolution with disease progression and pathological correlates of peak width of skeletonized mean diffusivity (PSMD), a sensitive diffusion magnetic resonance imaging (MRI) marker of microvascular white matter (WM) injury, in sporadic Alzheimer's disease (sAD) and Down syndrome (DS)–associated AD (DSAD).
Alejandra O. Morcillo‐Nieto, Maria Franquesa‐Mullerat, Sara E. Zsadanyi, José Enrique Arriola‐Infante, Lídia Vaqué‐Alcázar, Mateus Rozalem‐Aranha, José Allende Parra, Zili Zhao, Javier Arranz, Íñigo Rodríguez‐Baz, Lucia Maure‐Blesa, Laura Videla, Isabel Barroeta, Laura Del Hoyo Soriano, Bessy Benejam, Susana Fernández, Aida Sanjuan Hernandez, Lucia Pertierra, Sandra Giménez, Miguel Santos‐Santos, Oriol Dols‐Icardo, Ignacio Illán‐Gala, Daniel Alcolea, Olivia Belbin, Alberto Lleó, María Carmona‐Iragui, Juan Fortea, Alexandre Bejanin   +27 more
wiley   +1 more source

Antígeno da hepatite B na síndrome de Down

Arquivos de Neuro-Psiquiatria, 1974
Os autores demonstraram a ausência de HBAg no soro de 30 pacientes com síndrome de Down tratados em ambulatório (idades de 2 a 16 anos), bem como em 28 irmãos e em 19 de suas mães.
Roberto de Almeida Moura, Benjamin José Schmidt, Aron J. Diament, Stanislau Krynski   +3 more
doaj   +1 more source

Obesity‐Related Beliefs, Concerns, and Stigmatizing Perceptions Among Adults Living With Obesity

Obesity Science &Practice, Volume 12, Issue 2, April 2026.
ABSTRACT Background Weight stigma represents a barrier to effective obesity management and to achieving health equity. Although most research has focused on high‐income countries, data from Latin America remain scarce. This study aimed to examine perceptions, beliefs, and concerns about obesity among adults living with obesity in a middle‐income ...
Luiz F. Viola, Cynthia M. Valerio, Raquel B. G. Muniz, Roberta M. C. Moreira Allgayer, Thaisa D. G. Trujilho, Alexandre Hohl, Rodrigo N. Lamounier, Maria Augusta Bernardini, Roberta Brito, Bruno Halpern, Fábio R. Trujilho   +10 more
wiley   +1 more source

¿La lectura y la literatura como derechos? El caso de la discapacidad intelectual

Revista de la Facultad de Medicina, 2013
Antecedentes: Se revisan estudios sobre exclusión escolar, políticas internacionales y nacionales que abordan la lectura como herramienta para el desarrollo humano, e investigaciones y programas que evidencian resultados favorables cuando se utiliza la ...
Diana Patricia Jiménez, Rita Flórez-Romero   +1 more
doaj  

Joint Bayesian Nowcasting of Severe Acute Respiratory Illness and COVID‐19 Positives in Brazil

Statistics in Medicine, Volume 45, Issue 8-9, April 2026.
ABSTRACT Surveillance of severe acute respiratory illness (SARI) in Brazil provides an early warning system for respiratory outbreaks, including COVID‐19, and statistical nowcasting methods are vital for correcting long and variable reporting delays that would otherwise hinder timely decision‐making. Coherent joint prediction of SARI and COVID‐positive
Alba Halliday, Oliver Stoner, Theo Economou, Leonardo Soares Bastos   +3 more
wiley   +1 more source