YEAR 2026 VOLUME 4 ISSUE 2
EditorialOpen Access
From Diagnostic Complexity to Precision Medicine: Integrating Cytogenetics, Molecular Biology, and Targeted Therapies
Medicine is increasingly being transformed by molecular approaches that integrate clinical, cytogenetic, molecular, computational, and therapeutic tools. The four articles in this issue exemplify this interdisciplinary approach across diverse con...
Case reportOpen Access
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 came under medical evaluation during infancy due to cardiac malformations, microcephaly, dysmorphic features, and psychomotor developmental delay. Karyotyping revealed mosaicism for Turner syndrome and a ...
Case report and Literature ReviewOpen Access
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. Methods: This descrip...
Case report and Literature ReviewOpen Access
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 the clinical significance of a g...
Molecular and Genomic DiagnosticsOpen Access
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 diagnostic delay and m...