Results 21 to 30 of about 5,496 (109)

Histidinemia en niños preescolares con trastornos de la comunicación oral

Revista de Investigación en Logopedia, 2013
Los trastornos de la comunicación oral en el niño son causa frecuente de asistencia a la consulta de Logopedia y Foniatría, donde el especialista debe realizar el examen clínico funcional en busca de posible etiología para imponer el tratamiento ...
Denia Beltrán , Marcia de la Caridad López , Jiovanna Contreras , Daniel Quintana , Lisset Fuentes , Orietta Hernández , Elsa Alonso , Ondina Escalona, Estela Morales   +8 more
doaj   +3 more sources

Colocalization of Dopamine D1 and D2 Receptors With Neuronal Nitric Oxide Synthase in the Rat Paraventricular Nucleus: A Structural Basis for Dopaminergic–Nitrergic Interaction

Anatomia, Histologia, Embryologia, Volume 55, Issue 4, July 2026.
ABSTRACT The paraventricular nucleus (PVN) plays a central role in neuroendocrine and autonomic regulation, including male sexual behaviour. Dopaminergic and nitrergic signalling within the PVN are functionally linked, but their cellular relationship remains unclear.
Aixa R. Bello, Manuel Mas, Ricardo Reyes
wiley   +1 more source

Un cariotipo anormal: 45, XX t (13q; 14q) 5p+++

Revista de Ciencias Médicas de Pinar del Río, 2015
El cariotipo realizado a una paciente del sexo femenino de 8 años de edad, que estaba siendo estudiada por discapacidad intelectual moderada, dismorfias faciales y en las extremidades, reveló el siguiente resultado: 45, XX t (13q; 14q) 5p+++.
Elayne Santana Hernández, Víctor Jesús Tamayo Chang, Julio Armando Sánchez Delgado, Mirsa Rosas Hernández, María Paneque Área   +4 more
doaj  

Epidemiologia da paralisia cerebral no Brasil pela perspectiva da Classificação Internacional de Funcionalidade, Incapacidade e Saúde

Developmental Medicine &Child Neurology, Volume 68, Issue 7, Page e89-e103, July 2026.
Resumo Objetivo Estabelecer uma descrição geral das pessoas com paralisia cerebral (PC) no Brasil, incluindo a epidemiologia, características clínicas, funcionalidade e acesso à reabilitação e equipamentos, pela perspectiva da Classificação Internacional de Funcionalidade, Incapacidade e Saúde (CIF), utilizando dados preliminares do Registro Brasileiro
Hércules Ribeiro Leite, Luana Cristina da Silva, Elton Duarte Dantas Magalhães, Israt Jahan, Nadia Badawi, Gulam Khandaker, Maysa Ferreira Martins Ribeiro, Juliana de Alcântara Moreira Pereira, Luma Sthephanine Viana Roque da Silva, Maria de las Mercedes Ruiz Brunner, Paula Silva de Carvalho Chagas   +10 more
wiley   +1 more source

Resultados de seis años de estudios citogenéticos en líquido amniótico

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2015
Fundamento: la pesquisa de diversas enfermedades genéticas es uno de los programas preventivos con actual importancia a nivel de la salud pública. La detección precoz de cromosomopatías y la toma de conducta oportuna disminuyen la morbimortalidad y ...
Enelis Reyes Reyes, Glenys Katiuska Silva González, Alegna Ochoa Hidalgo, Yurima Rodríguez Peña, Adriana Figuera Regueiro   +4 more
doaj  

Exposure to Gestational Intermittent Hypoxia Does Not Impair the Metabolic Function or Accelerate the Biological Ageing Process of Offspring of Either Sex

Journal of Sleep Research, Volume 35, Issue 3, June 2026.
ABSTRACT Obstructive sleep apnea (OSA), marked by intermittent hypoxia, is associated with obesity, type 2 diabetes and metabolic associated fatty liver disease. In pregnancy, it remains underdiagnosed despite links to gestational diabetes, hypertension, and foetal growth restriction.
Esther Valverde‐Perez, Margarida B. Almeida, Joana F. Sacramento, Elena Olea, Jesus Prieto‐Lloret, Asuncion Rocher, Silvia V. Conde   +6 more
wiley   +1 more source

Bioconversion of carotenoids into high‐value crocins using a marine sponge carotenoid cleavage dioxygenase

New Phytologist, Volume 250, Issue 5, Page 3230-3246, June 2026.
Summary Carotenoids and apocarotenoids are widespread specialized metabolites, yet animals, including sponges, lack the ability to synthesize carotenoids de novo and must obtain them from dietary or microbial sources. The roles of carotenoid cleavage dioxygenases (CCDs) in marine animals remain largely unexplored. A CCD from the marine sponge Suberites
Elena Moreno‐Giménez, Lucía Morote, Alberto José López Jiménez, Eduardo Parreño, Jian You Wang, Matteo Nava, Carolina Aguado, Rafael Luján, Salim Al‐Babili, Gianfranco Diretto, Oussama Ahrazem, Lourdes Gómez‐Gómez   +11 more
wiley   +1 more source

Phenotypic diversity of frontotemporal lobar degeneration in two novel GRN variants from Colombia

Alzheimer's &Dementia, Volume 22, Issue 5, May 2026.
Abstract INTRODUCTION Pathogenic progranulin (GRN) variants are among the main genetic causes of frontotemporal lobar degeneration (FTLD). These variants have been predominantly reported in European cohorts, but their characterization in Latin America remains scarce.
Juan Pablo Barbosa‐Carvajal, Milena García‐García, Luisa Fernanda Gómez Navarro, Victoria Zubiri, Nancy Gelvez, Greizy López, Pablo Reyes, Elkin García‐Cifuentes, David Aguillón, Juliana Acosta‐Uribe, Diana Lucía Matallana   +10 more
wiley   +1 more source

Genetic Characterization and Multidisciplinary Management of Complete Androgen Insensitivity Syndrome: Unveiling a Novel AR Mutation

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT A novel AR frameshift mutation (c.2023_2035del) was identified in a 17‐year‐old phenotypic female with Complete Androgen Insensitivity Syndrome (CAIS). This report emphasizes the necessity of molecular characterization and multidisciplinary management to address diagnosis, surgical timing, and psychological well‐being in disorder of sex ...
Maria Francesca Astorino, Serena Scalise, Chiara Di Bella, Maria Angela La Rosa, Basilia Piraino, Marco Calabrò, Mattia Gentile, Rosaria Maddalena Ruggeri, Emanuela Esposito, Silvana Briuglia, Salvatore Cannavò   +10 more
wiley   +1 more source

Diagnóstico prenatal citogenético en la provincia de Cienfuegos entre los años 2007 y 2010

Medisur, 2012
Fundamento: el diagnóstico prenatal citogenético en la actualidad forma parte de la atención que se brinda en el mundo desarrollado a la embarazada de alto riesgo y es un componente indispensable de los programas preventivos de genética que impulsa la ...
Pedro Alí Díaz-Véliz Jiménez, Yamelis Garrido Martínez, Aime Guerra Jorge, Belkis Vidal Hernández   +3 more
doaj   +2 more sources