YEAR 2025 VOLUME 3 ISSUE 3
Editorial - Case reports as regional references
Dear colleagues and readers,
We are pleased to present this new issue of the journal, which brings together original contributions that reflect both the scientific depth and the growing regional leadership of biomedical research in Latin...
Letter to the Editor - Operational impact of entropy concepts in genetics and medical practice
The general trend in medical practice is to integrate new knowledge and perspectives on human beings that help enrich our understanding of the mechanisms that enable their existence and help us combat diseases or other conditions that affect th...
Vitamin D-dependent rickets type 1A due to pathogenic variant in CYP27B1:Case report
Clinical case: This is a case report of a one-year-old male infant with a history of chronic malnutrition and global developmental delay who was admitted to the Dr. José Renán Esquivel Children's Hospital with community-acquire...
Phenotypic heterogeneity of Duplication Syndrome 22q11.2: relevance of genomic DNA analysis
Background: 22q11.2 duplication syndrome (22q11.2DupS) is a rare autosomal dominant disorder characterized by a broad spectrum of clinical manifestations, including intellectual disability, dysmorphic features, and congenital a...
When Chromosome 15 Duplicates: A Clinical-Genetic Challenge
Background: Chromosome 15q11–q13 duplication syndrome (Dup15q) is a rare neurodevelopmental disorder caused by additional copies of a genomic region enriched in imprinted genes essential for normal neuronal function. It is comm...
Genetics and Entropy: Turning our gaze toward the thermodynamics of biological systems
A particular physical magnitude governs our existence in an unsuspected way: entropy, formulated from the Second Law of Thermodynamics. This review seeks to move beyond its traditional conception as an abstract notion of physics and to present ...
Miransertib and the PI3K/AKT pathway: an emerging therapeutic approach for Proteus syndrome
Introduction: Proteus syndrome is a rare disorder characterized by progressive tissue overgrowth associated with abnormal activation of the PI3K/AKT pathway, secondary to mutations in AKT1. Current therapeutic options ...