Year 2024, Volume 2, Issue 1Published: April 30th, 2024 Editors and Reviewers The following team of…
Category: Featured articles
Characterization and prevalence of comorbidities in pediatric patients with Down syndrome in the Dominican Republic
Authores: Katlin De La Rosa Poueriet1, Andrea Irina Servalle Mella2, Bary Bigay Mercedes3 This study analyzes…
Current genomic diagnostic challenges in Hemophagocytic Syndromes in pediatrics: Case report
Authors: Juan Manuel Sánchez-Vargas1, Lina Johanna Moreno Giraldo1 Introduction: Familial hemophagocytic lymphohistiocytosis (FHL) is a disease…
Aggrecanopathies: Report of a Spondyloepiphyseal Dysplasia Kimberley type (SEDK) in a family, caused by a previously undescribed likely pathogenic variant of the ACAN gene
Authors: Enrique Daniel Austin-Ward1, Jean Villegas2 The study of patients with short stature is complex and…
Membranous nephropathy: genetics, antigens and antibodies
Authors: Karen Courville1, Norman Bustamante2 Membranous nephropathy is a kidney disorder that thickens the glomerular basement…
Huntington’s disease in the Panamanian population, 2007-2021
Introduction: Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder characterized by progressive motor, cognitive and…
Personalized medicine and its impact in healthcare cost.
Personalized medicine, also known as precision medicine, is a rapidly advancing approach to healthcare that tailors…
Comparative Genomic hybridization in prenatal diagnostics
Introduction: Prenatal diagnosis is the process of detecting genetic abnormalities in a developing fetus before birth.…
Importance of molecular genetics in health
Molecular genetics is a rapidly growing field that has had a significant impact on modern healthcare.…
New, extremely rare “Er” blood type has been confirmed by mutation in the PIEZO1 gene.
Researchers from the English healthcare system, NHS, have achieved confirmation of a mutation associated with an…