YEAR 2025 VOLUME 3 ISSUE 1
Understanding Molecular and Genomic Pathophysiology: Key to Effective Molecular Diagnosis
In this issue, we present three original studies that address various rare genetic conditions. The first focuses on West syndrome and provides a detailed analysis of its diagnosis along with a proposed therapeutic approach to this complex condi...
West Syndrome: spectrum of disorders with diagnostic and therapeutic challenges
Introduction: West syndrome (WS) is a rare epileptic encephalopathy of multifactorial etiology, characterized by epileptic spasms, psychomotor delay, and hypsarrhythmia on electroencephalogram. Its prevalence is 1.5 to 2 per 10...
Protease S and Z inhibitor genotypes in the SERPINA1 gene in patients with COPD in the Republic of Panama
Background: Alpha-1-Antitrypsin (AAT) is a protein that inhibits protease, especially Trypsin. AAT deficiency can cause lung diseases such as early emphysema, mainly affecting the Anglo-Saxon population; this was considered to ...
Evaluation and classification of articles related to the MTHFR gene and OMIM evidence.
Introduction: The MTHFR gene, located at 1p36.22, is involved in the conversion of homocysteine to methionine via folate metabolism, which is essential for DNA, RNA, and protein synthesis. Variants such as C677T and A1...
First Reported Case Of Diploid/Triploid Mosaicism In The Dominican Republic
This study details the case of a one-year-old girl displaying significant overgrowth and bodily asymmetry, including right-side hemihypertrophy and delayed psychomotor development. A molar pregnancy was suspected during prenatal care, with post...