YEAR 2024 VOLUME 2 ISSUE 1
Awareness of rare genetic diseases in daily clinical practice
In this issue, we are pleased to present 4 multidisciplinary papers that include disciplines such as Pediatric Genetics, Hematology, and Nephrology. These high quality papers represent the efforts of months of specialist colleagues in the area ...
Characterization and prevalence of comorbidities in pediatric patients with Down syndrome in the Dominican Republic
This study analyzes the prevalence and characteristics of comorbidities in 534 children with Down Syndrome (DS) in the Dominican Republic, between 2018 and 2022. The research reveals early detection of DS, with an equal gender distribution. Mos...
Current genomic diagnostic challenges in Hemophagocytic Syndromes in pediatrics: Case report
Introduction: Familial hemophagocytic lymphohistiocytosis (FHL) is a disease of the autoimmune system that presents with an excessive inflammatory syndrome caused by activated T lymphocytes and histiocytosis. It occurs with autosomal recessive ...
Aggrecanopathies: Report of a Spondyloepiphyseal Dysplasia Kimberley type (SEDK) in a family, caused by a previously undescribed likely pathogenic variant of the ACAN gene
The study of patients with short stature is complex and requires diagnostic algorithms in which the evaluation by Genetics is essential, seeking to rule out genetic syndromes that may explain the patient's manifestations. Among these possible c...
Membranous nephropathy: genetics, antigens and antibodies
Membranous nephropathy is a kidney disorder characterized by thickening of the glomerular basement membrane, that causes nephrotic syndrome. It can be caused by various underlying conditions that result in damage to the filtering units of the k...