Publications by authors named "Olga Londono"
Article Synopsis
- CNVs are important genetic factors linked to neurodevelopmental delays and congenital issues, and CMA is the best method for identifying these variants.
- In a study of 3,380 patients from 2016 to 2021, 830 CNVs were found in 719 patients, with 10.6% contributing to their clinical conditions, especially on chromosomes 15 and 22.
- The study suggests reclassifying two variants previously considered uncertain as likely benign due to their high frequency, highlighting CMA's effectiveness in diagnosing genetic disorders in a diverse Latino population.
Objectives: We report a contemporary individual who died with advanced holoprosencephaly (HPE) to encourage recognition of rare diseases (RDs), especially congenital conditions in archaeological samples. We also explore the range of conditions associated with hydrocephalus in support of nuanced interpretations of this disease.
Materials: The skeleton of a 17-year-old male who died with clinically diagnosed HPE, along with an age and sex matched comparative sample of 6 individuals who suffered accidental death and who were normal.
Structural Protein Effects Underpinning Cognitive Developmental Delay of the p.Phe233del Mutation Modelled by Artificial Intelligence and the Hybrid Quantum Mechanics-Molecular Mechanics Framework.
Brain Sci
June 2022
A whole-exome capture and next-generation sequencing was applied to an 11 y/o patient with a clinical history of congenital hypotonia, generalized motor and cognitive neurodevelopmental delay, and severe cognitive deficit, and without any identifiable Syndromic pattern, and to her parents, we disclosed a de novo heterozygous pathogenic mutation, c.697_699del p.Phe233del (rs786204835)(ACMG classification PS2, PM1, PM2, PP5), harbored in the gene (MIM*600473) (5q31.
View Article and Find Full Text PDFStevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are rare severe cutaneous adverse reactions to drugs. Granulysin (GNLY) plays a key role in keratinocyte apoptosis during SJS/TEN pathophysiology. To determine if GNLY-encoding mutations might be related to the protein's functional disturbances, contributing to SJS/TEN pathogenesis, we performed direct sequencing of GNLY's coding region in a group of 19 Colombian SJS/TEN patients.
View Article and Find Full Text PDFIntroduction: Serological surveillance (serosurveillance) provides the most direct measure of herd immunity of vaccine-preventable diseases. Little is known about the opportunities and challenges of serosurveillance experiences, particularly pertussis.
Objective: To describe the process of serosurveillance for vaccine-preventable diseases with an emphasis on the experience of pertussis in the metropolitan area of Antioquia (Valle de Aburrá) in 2015 and 2016 and analyze the contributions and challenges for its sustainability.