Results 51 to 60 of about 4,430 (135)

Rare diseases in Chile: challenges and recommendations in universal health coverage context

Orphanet Journal of Rare Diseases, 2019
Rare diseases (RDs) are a large number of diverse conditions with low individual prevalence, but collectively may affect up to 3.5–5.9% of the population. They have psychosocial and economic impact on patients and societies, and are a significant problem
Gonzalo Encina, Carla Castillo-Laborde, Juan A. Lecaros, Karen Dubois-Camacho, Juan F. Calderón, Ximena Aguilera, Andrés D. Klein, Gabriela M. Repetto   +7 more
doaj   +1 more source

Analysis of Aspergillus spp. Isolates According to Temporal–Spatial, Sociodemographic, and Clinical Variables—Microsatellite Typing of Clinical and Environmental Samples of Aspergillus fumigatus in a University Hospital in Sao Paulo, Brazil

Mycoses, Volume 69, Issue 1, January 2026.
ABSTRACT Background Typing Aspergillus species is crucial for understanding the sources of infection in hospital environments. Objectives This study analysed clinical and air samples as well as their relationship with the clinical forms of aspergillosis.
Claudia de Abreu Fonseca, Ricardo Araujo, Vivian Caso Coelho, Carlos Henrique Camargo, Marcello Mihailenko Chaves Magri, Adriana Lopes Motta, Marina Farrel Côrtes, Ana Carolina Mamana, Marjorie Vieira Batista, Daniel Valério da Silva Moreira, Ana Paula Croce, Mauro Cintra Giudice, André Nathan Costa, Sergio Eduardo Demarzo, Alexandra Gomes dos Santos, Thais Guimarães, Vera Lucia Teixeira de Freitas, Sílvia Figueiredo Costa, Maria Aparecida Shikanai Yasuda   +18 more
wiley   +1 more source

Visual rating of the medial temporal lobe atrophy on magnetic resonance imaging in elderly patients with type I bipolar disorder

Alzheimer's &Dementia, Volume 21, Issue S2, December 2025.
Abstract Background Bipolar disorder (BD) is associated with cognitive impairments and structural brain changes, including brain atrophy. This study aims to evaluate medial temporal lobe atrophy (MTA) – through the visual evaluation of hippocampus, choroid fissure, and temporal horn – in elderly individuals with type‐I bipolar BD on magnetic resonance ...
Rodolfo Braga Ladeira, Vinicius Ribeiro Leduc, Marcia Radanovic, Fabio L.S. Duran, Homero Vallada, Orestes Vicente Forlenza   +5 more
wiley   +1 more source

Report of first isolation of the zoonotic Arcobacter species from swine fecal samples in Ecuador

Austral Journal of Veterinary Sciences, 2018
Arcobacter butzleri, A. cryaerophilus, A. skirrowii and A. thereius are recognised as emerging zoonotic agents, recovered from animals and human beings. The information available about Arcobacter species in Latin America is scarce. Among domestic animals,
Rosa Janneth Simaluiza, Jimmy Fernández, Heriberto Fernández   +2 more
doaj   +1 more source

HLA B27 y Espondiolitis anquilosante: Estudio de asociación en la población colombiana

Acta Biológica Colombiana, 2001
Demostrar la asociación del gen HLA B27 con la espondilitis anquilosante (EA) a través de un estudio de casos y controles en la población colombiana.
S. Carpeta, R. Mantilla, A. Iglesias, H. Ossa   +3 more
doaj  

Polygenic score analysis identifies distinct genetic risk profiles in Alzheimer’s disease comorbidities

Scientific Reports
Alzheimer’s disease (AD) is usually accompanied by comorbidities such as type 2 diabetes (T2D), epilepsy, major depressive disorder (MDD), and migraine headaches (MH) that can significantly affect patient management and progression.
Carlos F. Hernández, Camilo Villaman, Costin Leu, Dennis Lal, Ignacio Mata, Andrés D. Klein, Eduardo Pérez-Palma   +6 more
doaj   +1 more source

Autopsia molecular en muerte súbita cardiaca neonatal mediante secuenciación de siguiente generación (NGS): presentación de un caso

Repertorio de Medicina y Cirugía, 2018
Presentamos un caso de muerte súbita de una lactante de tres meses de edad. La autopsia reveló una miocardiopatía hipertrófica y la muestra de sangre del cordón umbilical almacenada fue utilizada para análisis molecular.
Eliana del Pliar Garzón Venegas, Cladelis Rubio Gómez, Suleima Carpeta Sánchez, Jennifer Vélez Segura, Jenny Blanco Gómez, Paola Andrea Beltrán Moreno, Diana Sánchez MD, Claudia Juliana Serrano MD, Juan Carlos Bonilla   +8 more
doaj   +1 more source

[Referral criteria to clinical genetics from primary care: Consensus document]. [PDF]

Aten Primaria, 2022
Ejarque Doménech I, Marín Reina P, García-Miñaur Rica S, Chirivella González I, Martínez Martínez MT, García Rodríguez AM, Álvarez de Andrés S, Tellería Orriols JJ.   +7 more
europepmc   +1 more source

¿CÓMO PUEDO MODIFICAR MI RIESGO A DESARROLLAR CÁNCER, CUANDO SOY PORTADOR DE UNA MUTACIÓN?

Revista Médica Clínica Las Condes, 2017
El cáncer hereditario y familiar es parte de un grupo de patologías que requieren una mayor atención por parte del personal de salud al involucrar a una población con mayor riesgo de desarrollar cáncer y que por lo tanto, requieren tanto de test ...
Dra. Yenni Rodríguez, MD, Dra. Dahiana Rodríguez, MD   +1 more
doaj   +1 more source

Enfermedad de Charcot- Marie- Tooth: 5 nuevos casos en el sur colombiano

Repertorio de Medicina y Cirugía
Introducción: la enfermedad de Charcot-Marie-Tooth, es la neuropatía periférica hereditaria más frecuente, con prevalencia mundial de 1:2500. Su presentación tanto clínica como genética es heterogénea.
Maria Camila Gutierrez Vargas, Henry Ostos Alfonso   +1 more
doaj   +1 more source