Results 31 to 40 of about 403 (132)

Genetically determined Alzheimer's disease research advances: The Down Syndrome & Autosomal Dominant Alzheimer's Disease 2024 Conference

Alzheimer's &Dementia, Volume 21, Issue 7, July 2025.
Abstract INTRODUCTION The Down syndrome‐associated Alzheimer's disease (DSAD) autosomal dominant Alzheimer's disease (ADAD) 2024 Conference in Barcelona, convened under an Alzheimer's Association International Society to Advance Alzheimer's Research and Treatment (ISTAART) grant through the Down syndrome and Alzheimer's disease (AD) Professional ...
Neus Falgàs, Lucia Maure‐Blesa, Beau Ances, Lisi Flores‐Aguilar, Sigan Hartley, Jason Hassenstab, M Florencia Iulita, Matthew Janicki, Katherine Koenig, Patrick Lao, Johannes Levin, Eric McDade, Laurent Meijer, Michael S. Rafii, Heather M. Snyder, Raquel Sánchez‐Valle, Juan Fortea, DSAD‐ADAD conference group, Jose Arriola Infante, Mirea Balasa, Isabel Barroeta, Nicolas Barthelemy R, Alexandre Bejanin, Bessy Benejam, Beatriz Bosch, Angela Bradshaw, Maria Carmona‐Iragui, Ann Cohen, Aina Comas Albertí, Lajos Csincsik, A. Claudio Cuello, Laura del Hoyo Soriano, Janna Dijkstra, Natalie Edwards, Sandra Giménez, Fernando Gonzalez‐Ortiz, Brian Gordon, Sara Gutiérrez Fernández, Benjamin Handen, Charlotte Jacob, Erik Johnson, Charlotte Johansson, Albert Lladó, Alberto Lleó, Samuel Morabito, Alejandra. O. Morcillo‐Nieto, Laia Montoliu‐Gaya, Michael Okafor, Agnes Pérez‐Millan, Marie Claude Potier, John Ringman, Íñigo Rodríguez‐Baz, Eric Rubenstein, Natalie S. Ryan, André Strydom, Lidia Vaqué‐Alcázar, Lisa Vermunt, Laura Videla Toro, Shahid Zaman   +58 more
wiley   +1 more source

Manifestações clínicas e fonoaudiológicas na Síndrome de Turner: estudo bibliográfico Clinical and speech, hearing and language pathology manifestations on Turner Syndrome: bibliographical study

Revista CEFAC, 2012
TEMA: síndrome genética e achados fonoaudiológicos. OBJETIVO: descrever as manifestações clínicas e fonoaudiológicas em indivíduos com a Síndrome de Turner CONCLUSÃO: foram levantados 23 artigos sobre a Síndrome de Turner dos quais 7 discorriam sobre a ...
Suhamy Aline Mandelli, Dagma Venturini Marques Abramides   +1 more
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High‐frequency oscillations >250 Hz in people with Down syndrome and associated Alzheimer's disease dementia

Alzheimer's &Dementia, Volume 21, Issue 7, July 2025.
Abstract INTRODUCTION Alzheimer's disease (AD) dementia has near full penetrance in adults with Down syndrome (DS) and is strongly linked to late‐onset myoclonic epilepsy in Down syndrome (LOMEDS). However, promising biomarkers of epileptogenicity, such as high‐frequency oscillations (HFOs >250 Hz), have not been studied. This study is the first to use
Christos Panagiotis Lisgaras, Sandra Giménez, María Carmona‐Iragui, Lucia Maure‐Blesa, Esther Blessing, Juan Fortea, Ricardo S. Osorio   +6 more
wiley   +1 more source

Report of the Scientific Committee of the Spanish Agency for Food Safety and Nutrition (AESAN) on the effects of climate change on the risk of transmission of foodborne pathogens

Food Risk Assess Europe, Volume 3, Issue 3, July 2025.
Abstract The Scientific Committee of the Spanish Agency for Food Safety and Nutrition (AESAN) has carried out an updated review of the scientific evidence on the influence of climate change on the transmission of foodborne pathogens. This global phenomenon represents an emerging threat to food safety and public health, since alterations in weather ...
Antonio Valero Díaz, Rosa María Capita González, Baltasar Mayo Pérez, Azucena del Carmen Mora Gutiérrez, María Dolores Rodrigo Aliaga, Gloria Sánchez Moragas, Paula Arrabal Durán   +6 more
wiley   +1 more source

Development and validation of a novel Simoa assay for NPTX2 in Alzheimer's disease and Down syndrome

Alzheimer's &Dementia, Volume 21, Issue 6, June 2025.
Abstract INTRODUCTION Synaptic dysfunction and loss are pathological hallmarks of neurodegenerative diseases. Neuronal pentraxin 2 (NPTX2), a presynaptic protein involved in synaptic plasticity, has been linked to cognitive decline in Alzheimer's disease (AD) and other neurodegenerative disorders.
Mathias Sauer, Bárbara Fernandes Gomes, Parasto Shahrouki, Juan Lantero‐Rodriguez, Laia Montoliu‐Gaya, Elena Camporesi, Olivia Belbin, Daniel Alcolea, Ashish Kumar, Mitu Sharma, Sangeeta Singh, Gunnar Brinkmalm, Johan Gobom, María Carmona‐Iragui, Michael Schöll, Shorena Janelidze, Gagan Deep, Kaj Blennow, Henrik Zetterberg, Ann Brinkmalm, Alberto Lleó, Juan Fortea, Oskar Hansson, Nicholas J. Ashton, Johanna Nilsson   +24 more
wiley   +1 more source

Current advances and unmet needs in Alzheimer's disease trials for individuals with Down syndrome: Navigating new therapeutic frontiers

Alzheimer's &Dementia, Volume 21, Issue 6, June 2025.
Abstract Individuals with Down syndrome (DS) have a genetically determined form of Alzheimer's disease (AD) due to the amyloid precursor protein (APP) gene dose effect. Nearly all individuals with DS develop AD pathology by age 40. Although dementia is rare before this age, its incidence rises sharply thereafter.
Isabel Barroeta, Laura Videla, María Carmona‐Iragui, Juan Fortea, Michael S. Rafii   +4 more
wiley   +1 more source

‘Nobody Has Ever Spoken to Me About PCD and Fertility Issues’: Fertility Experiences of People With Primary Ciliary Dyskinesia and Their Family Caregivers

Health Expectations, Volume 28, Issue 3, June 2025.
ABSTRACT Background Primary ciliary dyskinesia (PCD) affects fertility in both females and males. To understand the impact and concerns among people with PCD and parents of affected children (family caregivers), we explored how they report their experiences with fertility.
Leonie D. Schreck, Sophie Meyer, Eva S. L. Pedersen, Yin Ting Lam, Hansruedi Silberschmidt, Sara Bellu, Living with PCD patient advisory group, Sofía C. Zambrano, Claudia E. Kuehni, Myrofora Goutaki   +9 more
wiley   +1 more source

Should the use of omeprazole be allowed during equestrian competition?

Equine Veterinary Journal, Volume 57, Issue 3, Page 555-562, May 2025.
Abstract Background Prioritising equine welfare, making evidenced‐based policy, and consistent decision‐making across sports are crucial to maintaining the social licence for equestrian sport. Regulations on the use of omeprazole during competition differ; all regulators argue that their rules prioritise welfare. This discrepancy is a matter of concern
Madeleine L. H. Campbell, Benjamin W. Sykes   +1 more
wiley   +1 more source

Vulnerability of Southern Hemisphere bats to white‐nose syndrome based on global analysis of fungal host specificity and cave temperatures

Conservation Biology, Volume 39, Issue 2, April 2025.
Abstract White‐nose syndrome (WNS), a disease affecting hibernating bats, is caused by the fungal pathogen Pseudogymnoascus destructans (Pd). Since the initial introduction of Pd from Eurasia to the United States in 2006, WNS has killed millions of bats throughout the temperate parts of North America.
Nicholas C. Wu, Justin A. Welbergen, Tomás Villada‐Cadavid, Lindy F. Lumsden, Christopher Turbill   +4 more
wiley   +1 more source

Presentación de una paciente con diagnóstico de mosaico Turner y embarazo

Correo Científico Médico, 2013
La constitución cromosómica más frecuente es el síndrome de Turner 45 X, pero también se han descrito algunas variantes de esta, como el mosaico Turner con fórmula XX/X0.
Elayne Esther Santana, Víctor Jesús Tamayo Chang, Nilson Márquez Ibáñez, Vivian Susana Guerra Batista, Ana Iris Heres Zalazar   +4 more
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