Results 11 to 20 of about 5,511 (109)

Relationship between Cellular Redox Status and Systemic Inflammation Markers

Revista Finlay, 2021
Background: the relationship between the reduced and oxidized form of glutathione, GSH/ GSSG, is frequently used as an indicator of the cellular redox state.
Gretel Riverón Forment, Tatiana Acosta Sánchez, Lilia Caridad Marín Padrón, Yaíma Zúñiga Rosales, Bárbara Torres Rives, Jacqueline Pérez Rodríguez   +5 more
doaj   +2 more sources

Relation of polymorphisms VEGF (+405G>C) and TNFα (-308A>G) with the embryo implantation in Cubans patient undergoing in vitro fertilization

Revista Cubana de Investigaciones Biomédicas, 2020
Introduction. A cohort study was carried out at the National Center for Medical Genetics, from July 2017 to June 2018, in 27 patients evaluated in the consultation for the infertile couple at the Hermanos Ameijeiras Hospital. Objective.
Francisco Sotomayor Lugo, Beatriz Marcheco Teruel, Kenia Rodríguez Martínez, Alejandro Esperón Álvarez, Ahmed Menocal Alayón, José Alberto Almaguer Almaguer, Ixchel López Reyes, Rosa María Flores Sánchez, Yoandra Crespo Ferrán, Vivian Veiga Loyola   +9 more
doaj  

Confirmación de variantes estructurales de hemoglobina empleando gel ácido en la tecnología Hydrasys

Medisur, 2013
Fundamento: En el Centro Nacional de Genética Médica se realiza la pesquisa de las principales anormalidades de la hemoglobina de interés clínico (HbS, HbC) a gestantes de la provincia de Artemisa con la tecnología Hydrasys utilizando geles alcalinos de ...
Jacqueline Pérez Rodríguez, Yadira Valdés Fraser, Giselle Gámez Torres, Tatiana Acosta Sánchez, Jazminia Moreno Arango   +4 more
doaj   +2 more sources

Comportamiento de la estabilidad en muestras de sangre para la electroforesis de hemoglobina

Medisur, 2013
Fundamento: En el Centro Nacional de Genética Médica se realiza la pesquisa prenatal de Detección de Hemoglobinopatías de la provincia de Artemisa y el control de calidad del programa a nivel nacional; la confiabilidad de los resultados está determinada ...
Yadira Valdés Fraser, Jacqueline Pérez Rodríguez, Giselle Gámez Torres, Tatiana Acosta Sánchez, Iovana Fuentes Cortes   +4 more
doaj   +2 more sources

Niveles de antitoxina tetánica y diftérica relacionadas con el alelo HLA-B27 en pacientes cubanos con uveítis anterior no infecciosa

VacciMonitor, 2021
La uveítis anterior no infecciosa es una enfermedad inflamatoria del ojo que afecta al tracto uveal y que puede causar ceguera total y otras discapacidades visuales. Esta enfermedad se ubica en el espectro de enfermedades autoinmunes y autoinflamatorias.
Bárbara Torres-Rives, Goitybell Martínez-Téllez, Minerva Matarán-Valdés, Lisi Osorio-Ilas, Daysi Vilches-Lescaille, Cira Rodríguez-Pelier, Yaíma Zúñiga-Rosales, Teresa Collazo-Mesa   +7 more
doaj  

Sustained seizure reduction, treatment simplification, and high retention with cenobamate: A 12‐month real‐world study in refractory and ultra‐refractory focal epilepsy

Epilepsia Open, EarlyView.
Abstract Objective To assess the 12‐month clinical impact of cenobamate (CNB) in adults with drug‐resistant focal epilepsy in clinical practice, exploring whether outcomes differed according to prior antiseizure medication (ASM) exposure. Methods This single‐center, retrospective, observational, real‐world study included 91 adults stratified by the ...
Francesca Cutropia, Maria Teresa Di Claudio, Marta Robustella, Umberto Costantino, Carmela Pia Ferro, Giuseppe Miscio, Elena Conte, Nicola Amoroso, Orazio Nicolotti, Cosimo Damiano Altomare, Massimo Carella, Antonella Liantonio, Paola Imbrici, Giuseppe d'Orsi   +13 more
wiley   +1 more source

Clinical and molecular features of PRCD‐associated retinopathy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To describe the clinical and genetic characteristics of patients with biallelic disease‐causing variants in the PRCD (Progressive Rod‐Cone Degeneration) gene. Methods Multicentre, retrospective cohort study of 19 patients from 13 families across nine reference centres in six countries.
Vasil Kostin, Karolina Kaminska, Marco Cattaneo, Enrico Ambrosini, Carmen Ayuso, Almudena Ávila‐Fernández, Béatrice Bocquet, Luisa Coutinho‐Santos, Benedetto Falsini, Lidia Fernandez‐Caballero Palomeque, Bohdan Kousal, Petra Liskova, Inmaculada Martín‐Mérida, María Juliana Ballesta‐Martínez, Daan Panneman, Susanne Roosing, Isabelle Meunier, José M. Millán, Monika Pankievič, Irene Perea‐Romero, Virginie Peter, Giorgio Placidi, Cristina Santos, Francesca Simonelli, Ana Berta Sousa, Francesco Testa, Marie Vajter, Marianna Weener, Mathieu Quinodoz, Carlo Rivolta, Giacomo Calzetti   +30 more
wiley   +1 more source

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum

Clinical Genetics, EarlyView.
Pathogenic PORCN variants are compatible with male survival in both mosaic and non‐mosaic states, expanding the FDH/PONGOS spectrum and improving diagnosis and genetic counseling. ABSTRACT Pathogenic variants in PORCN cause focal dermal hypoplasia (FDH/Goltz syndrome), an X‐linked dominant disorder historically considered lethal in males, with milder ...
Lucía Miranda‐Alcaraz, Simone Carbonera, Mónica Mora‐Gómez, Natalia Gallego‐Zazo, Inmaculada Guillén, Elena Padilla, Gaia Visani, Alessia Asaro, Valeria Vásquez‐Amell, Mario Cazalla, Manuel Rodríguez‐Canó, Cristina Silván, Pedro Arias, Juan Andrés Jiménez‐Estrada, Tomás Valle, Alejandro Cruz‐Utrilla, Pilar Escribano‐Subías, Nuria Ochoa Parra, María Jesús del Cerro Marín, Julián Nevado, Spanish PAH Consortium, Pablo Lapunzina, Fabio Sirchia, Jair Tenorio‐Castano   +23 more
wiley   +1 more source

Descrição atualizada da paralisia cerebral

Developmental Medicine &Child Neurology, EarlyView.
Resumo A paralisia cerebral (PC) é um termo descritivo amplamente utilizado para um espectro de deficiências motoras causadas por lesão ou malformação cerebral não progressiva ocorrida durante as fases iniciais do desenvolvimento. Avanços recentes nas áreas da genética, de pesquisa em inflamação e em neurofisiologia têm refinado a compreensão ...
Bernard Dan, Peter Rosenbaum, Lucinda Carr, Martin Gough, John Coughlan, Nonyelum Nweke   +5 more
wiley   +1 more source

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