Results 61 to 70 of about 137,586 (214)

Novel heterozygous mutation in the steroidogenic acute regulatory protein gene in a 46,XY patient with congenital lipoid adrenal hyperplasia [PDF]

, 2013
StAR forma parte del complejo multiproteico transduceosoma, encargado del transporte de colesterol y que facilita su entrada a la mitocondria. Mutaciones recesivas en el gen STAR causan formas clásicas y no clásicas de hiperplasia adrenal congénita ...
Bailez, Marcela, Baquedano, María Sonia, Belgorosky, Alicia, Berensztein, Esperanza Beatriz, Costanzo, Mariana, Guercio, Gabriela Viviana, Maceiras, Mercedes Carmen, Marino, Roxana Marcela, Ramirez, Pablo, Rivarola, Marco Aurelio, Vaiani, Elisa   +10 more
core   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Total anomalous connection of pulmonary veins to the portal vein. Value of multislice angiotomography. Report on three cases

Acta Pediátrica de México, 2014
Objective: Present tomographic data from the patients with emphasis on structural characteristics. Material and method: Retrospective study of three patients in whom the four pulmonary veins connected to the portal vein.
Sara Alejandra Solórzano-Morales, Francisco Javier López-Elías, Javier Horacio López-Terrazas, Max Alberto Bernal-Moreno, Alexis Javier Palacios-Macedo-Quenot, Alfredo Bobadilla-Aguirre   +5 more
doaj   +1 more source

Violence Against Women, Mother–Infant Bond and Child Behaviour: An Exploratory Path Analysis at IVAPSA Cohort

Child: Care, Health and Development, Volume 52, Issue 2, March 2026.
ABSTRACT Background Violence experienced by women has serious consequences for maternal and child health, generating short‐ and long‐term damage. Objective The aim of this study was to evaluate the relation between violence experienced by women and the mother–child bond in the first 6 months after childbirth and on the child's mental health at ...
Viviane Costa de Souza Buriol, Marina Nunes, Ariela Raissa Lima‐Costa, Marcelo Zubaran Goldani, Juliana Rombaldi Bernardi, Denise Ruschel Bandeira, Clécio Homrich da Silva   +6 more
wiley   +1 more source

Cytogenomic Abnormalities in Children With Acute Lymphoblastic Leukemia From Western Mexico: A Single‐Center Fluorescence In Situ Hybridization‐Based Study

eJHaem, Volume 7, Issue 1, February 2026.
ABSTRACT Introduction In Mexico, the 5‐year overall survival (OS) rate for pediatric acute lymphoblastic leukemia (ALL) ranges from 45% to 85%, markedly lower than the ∼90% reported in high‐income countries, where cytogenomic testing is essential for accurate risk stratification and therapeutic decision‐making.
Rosa María González Arreola, María Teresa Magaña Torres, Ma. Guadalupe Domínguez Quezada, Janet Margarita Soto Padilla, José Luis Toro Castro, Beatriz Kazuko De la Herrán Arita, Alicia Gutiérrez Méndez, Hugo Antonio Romo Rubio, Juan Ramón González García   +8 more
wiley   +1 more source

Ependimoma celular parcialmente resecado complicado con meningoependimocoroiditis bacteriana por Pseudomonas aeruginosa e infección sistémica por citomegalovirus

Acta Pediátrica de México, 2017
Niño de 1 año 10 meses de edad, originario de Irapuato, Guanajuato, sin antecedentes de importancia para el padecimiento actual. Inició dos meses previos a su ingreso con crisis convulsivas tónico-clónicas generalizadas de 15 segundos de duración durante
Francisco Javier Otero-Mendoza, Celso Tomás Corcuera-Delgado, Marco Rodrigo Aguilar-Ortiz, Gilberto Gómez-Garza, Nancy Evelyn Aguilar-Gómez   +4 more
doaj   +1 more source

Cambios a partir de la COVID-19. Una perspectiva desde la pediatría interna hospitalaria

Anales de Pediatría, 2020
La dimensión de la pandemia por SARS-CoV-2 ha afectado a la organización asistencial de la pediatría hospitalaria de nuestro país. Los nuevos retos generados por la COVID-19 exigen una serie de medidas proactivas basadas en los conocimientos científicos ...
Pedro J. Alcalá Minagorre, Enrique Villalobos Pinto, José Miguel Ramos Fernández, R. Rodríguez-Fernández, Miguel Vázquez Ronco, L. Escosa-García, Juan Ignacio Montiano Jorge, Juan José García García   +7 more
semanticscholar   +1 more source

Reingreso de los niños de 1 a 3 meses al servicio de pediatría del Hospital Perrupato, San Martín, Mendoza [PDF]

, 2011
Esta investigación tiene como objetivo principal indagar sobre los factores que inciden en los reingresos de los niños de 1 a 3 meses de edad al servicio de Pediatría del Hosp ital Perrupato, de Gral. San Martín, Mendoza. Además, pretende identificar las
Moyano, Gustavo Ariel, Sosa, Rubén
core  

Roots of resilience: Assessing child and adolescent nature connectivity in the Mediterranean Region of Murcia (Spain)

People and Nature, Volume 8, Issue 2, Page 378-391, February 2026.
Abstract Children today spend less time outdoors than previous generations, with potential consequences for health, learning and pro‐environmental attitudes. We assessed children's connection with and exposure to nature in a Mediterranean setting using the Nature Connection and Experience Index (NCEI), a composite measure that integrates an affective ...
Juan Antonio Ortega‐García, Francisco Díaz‐Martínez, Laura Teresa Cabrera‐Rivera, Carmen Alicia Cánovas‐Conesa, Elena Codina, Rebeca Ramis, Luz Claudio   +6 more
wiley   +1 more source

Effectiveness of an educational strategy to increase plain water consumption in children

Salud Pública de México, 2019
Objective. We tested the effectiveness of the I prefer plain water educational strategy used to increase water consumption in elementary school children. Materials and methods.
Claudia Pimentel-Hernández, José Francisco González-Zamora, José Humberto Medina-Cortina, Silvestre García-de la Puente, José Luis Arredondo-García   +4 more
doaj   +1 more source