YEAR 2026 VOLUME 4 ISSUE 2
From Diagnostic Complexity to Precision Medicine: Integrating Cytogenetics, Molecular Biology, and Targeted Therapies
The continuing evolution of molecular medicine is transforming not only how diseases are diagnosed, but also how their mechanisms are understood and how patients are treated. Increasingly, complex clinical presentations require an integrated ap...
Chromosomal Triple Mosaicism in a Male with Turner Syndrome, 8p21.1–pter Deletion, and Yq Deletion: A First Case Report
We present the case of a male patient who was under medical observation as an infant due to cardiac malformations, microcephaly, dysmorphic features, and psychomotor developmental delay. Karyotyping revealed mosaicism for Turner syndrome and a ...
Clinical Management and Therapeutic Advances in Pediatric Patients with Neurofibromatosis Type 1 Associated Plexiform Neurofibromas
Introduction: Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder frequently complicated by plexiform neurofibromas (PN), which cause severe functional impairment and present a complex therapeutic challenge.
Computational Structural Modeling of the TTN p.(Arg3936Ter) Variant in a Panamanian Patient with Dilated Cardiomyopathy
Background: Truncating variants in TTN are among the most frequent genetic causes of dilated cardiomyopathy. However, TTN encodes multiple tissue-specific isoforms through extensive alternative splicing, and t...
Cutaneous Leishmaniasis Mimicking Low-Grade Myofibroblastic Sarcoma: A Case Report from Resistencia, Chaco, Argentina
Background: Cutaneous leishmaniasis (CL) is an emerging vector-borne disease endemic in northern Argentina and may present with atypical clinical and histopathological features that mimic soft tissue neoplasms, leading to diagn...