Publications by authors named "A Campos-Barros"
Introduction: The diagnostic yield of genetic analysis in the evaluation of children with short stature depends on associated clinical characteristics, but the additional effect of parental consanguinity has not been well documented.
Methods: This observational case series of 42 short children from 34 consanguineous families was collected by six referral centres of paediatric endocrinology (inclusion criteria: short stature and parental consanguinity). In 18 patients (12 families, group 1), the clinical features suggested a specific genetic defect in the growth hormone (GH) insulin-like growth factor I (IGF-I) axis, and a candidate gene approach was used.
Background: Anal squamous cell carcinoma (ASCC) is an infrequent tumor whose treatment has not changed since the 1970s. The aim of this study is the identification of biomarkers allowing personalized treatments and improvement of therapeutic outcomes.
Methods: Forty-six paraffin tumor samples from ASCC patients were analyzed by whole-exome sequencing.
Article Synopsis
- 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.
In this article, we analyze several works of art which portray individuals with short stature ("dwarfism"). We have focused on eight individuals who we believe have short stature due to growth hormone deficiency (GHD) or closely related disorders, rather than skeletal dysplasia. We discuss them individually, suggest the potential diagnosis, review the characteristics of their life and personal history, and briefly outline the artistic framework in which these works of art were created.
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