Results 11 to 20 of about 5,496 (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 +5 more
doaj +2 more sources
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 +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 +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 +4 more
doaj +2 more sources
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 +7 more
doaj
Allergy, EarlyView.ABSTRACT This update and revision of the international guideline for urticaria was developed in accordance with the methods recommended by Cochrane and the Grading of Recommendations Assessment, Development and Evaluation (GRADE) working group. It is an initiative of the Global Allergy and Asthma Excellence Network (GA2LEN) and its Urticaria and ...
T. Zuberbier +221 more
wiley +1 more source
Clinical Genetics, EarlyView.This study describes the clinical heterogeneity of Brazilian patients with 5q spinal muscular atrophy types 2 and 3, highlighting prolonged diagnostic delays and the impact of disease duration on motor function. Early genetic diagnosis and access to multidisciplinary care are crucial to preserve functional outcomes.
Elice Carneiro Batista +31 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 +5 more
wiley +1 more source
Revista Biomédica, 2017 Introducción: Durante la etapa aguda de la infección por el virus de la hepatitis B y el período inicial de una infección crónica, el DNA está en forma episomal (libre o extracromosomal) y replica en el hepatocito produciendo entre otros viriones ...
Cira V. Rodríguez-Pelier +6 more
doaj +1 more source
Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies
American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1608-1618, July 2026.ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio +16 more
wiley +1 more source