Publications by authors named "Carolina Bezanilla Lopez"
Background: small-for-gestational-age (SGA) newborns present a higher morbidity and mortality rate when compared to infants born appropriate for gestational age (AGA), as well as insufficient growth, with height far from their target and in some cases a low final height (< -2 SDs). Objective: the aim of this study was to determine when catch-up growth (CUG) in height occurs in these children, and which factors are associated with lack of CUG. Material and methods: this is a retrospective study of SGAs born between 2011 and 2015 in a secondary hospital.
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- A study investigated the genetic variants related to skeletal dysplasias in 108 individuals with short stature and mild skeletal issues using next generation sequencing (NGS).
- Out of the participants, 19.4% showed heterozygous variants, primarily in the ACAN and IHH genes, which were linked to significant differences in anthropometric measurements compared to those without variants.
- The findings suggest that mild skeletal dysplasias are more common in people with short stature, and detailed phenotype assessments can help identify patients who might benefit from genetic testing, despite current limitations in extensive molecular studies.
PurposeC-type natriuretic peptide (CNP) and its principal receptor, natriuretic peptide receptor B (NPR-B), have been shown to be important in skeletal development. CNP and NPR-B are encoded by natriuretic peptide precursor-C (NPPC) and natriuretic peptide receptor 2 (NPR2) genes, respectively. While NPR2 mutations have been described in patients with skeletal dysplasias and idiopathic short stature (ISS), and several Npr2 and Nppc skeletal dysplasia mouse models exist, no mutations in NPPC have been described in patients to date.
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