Publications by authors named "Lucas S de Santana"
Background: A maturity-onset diabetes of the young (MODY) calculator has been described and validated for use in European Caucasians. This study evaluated its performance in Brazilians diagnosed with diabetes mellitus (DM) before 35 years of age.
Methods: The electronic records of 391 individuals were reviewed in 2020 at the diabetes clinic of a quaternary hospital in São Paulo were analyzed: 231 with type 1 DM (T1DM), 46 with type 2 (T2DM) and 114 with MODY.
Neonatal diabetes mellitus (NDM) is defined as the occurrence of severe hyperglycemia in infants under 6 months old and may be permanent (PNDM) or transient (TNDM). When diabetes is diagnosed at 6-12 months of age (early onset diabetes [EOD]), the etiology may be monogenic; however, most cases consist of type 1 diabetes mellitus (T1DM). Molecular diagnosis was determined in a cohort of 35 unrelated Brazilian patients with NDM or EOD based on targeted next-generation sequencing panel and/or chromosome 6q24 abnormalities.
View Article and Find Full Text PDFContext: The genetic bases of osteoporosis (OP), a disorder with high heritability, are poorly understood at an individual level. Cases of idiopathic or familial OP have long puzzled clinicians as to whether an actionable genetic cause could be identified.
Objective: We performed a genetic analysis of 28 cases of idiopathic, severe, or familial osteoporosis using targeted massively parallel sequencing.
Targeted sequencing identifies novel variants in common and rare MODY genes.
Mol Genet Genomic Med
December 2019
Background: Maturity-onset diabetes of the young (MODY) is a form of monogenic diabetes with autosomal dominant inheritance. To date, mutations in 11 genes have been frequently associated with this phenotype. In Brazil, few cohorts have been screened for MODY, all using a candidate gene approach, with a high prevalence of undiagnosed cases (MODY-X).
View Article and Find Full Text PDFArticle Synopsis
- - Dunnigan-type familial partial lipodystrophy (FPLD2) is a rare genetic disorder caused by mutations in a specific gene, affecting fat distribution and often starting during puberty, leading to varied clinical presentations.
- - This study describes four family members with different manifestations of FPLD2 linked to the same genetic mutation (p.R582C), showcasing how the disease can present distinctly among individuals, even within the same family.
- - The proband experienced severe fat loss and diabetes, while her siblings showed varying degrees of lipodystrophy and metabolic issues, indicating that factors beyond genetics may influence disease severity and symptoms.