Publications by authors named "Pinillos-Aransay Valvanera"
Identification of RP1 as the genetic cause of retinitis pigmentosa in a multi-generational pedigree using Extremely Low-Coverage Whole Genome Sequencing (XLC-WGS).
José M Lázaro-Guevara Bryan-Josué Flores-Robles Karen M Garrido-Lopez Ryan J McKeown Adriana E Flores-Morán Valvanera Pinillos-Aransay
Gene
January 2023
Article Synopsis
- Next-generation sequencing (NGS) is crucial for identifying genetic variants that cause diseases, but it's often too expensive for widespread clinical use; a cheaper alternative, extremely low coverage whole-genome sequencing (XLC-WGS), was explored in a study on retinitis pigmentosa (RP).
- The study analyzed the genomes of 17 family members, including three diagnosed with RP, using Illumina's processing tools to filter and prioritize genetic variants.
- Researchers identified a known mutation in the RP1 gene as the likely cause of RP in the affected individuals, demonstrating that combining pedigree analysis with XLC-WGS is a practical and cost-effective method to find genetic variants related to diseases.
Article Synopsis
- - Hypothenar hammer syndrome is a rare condition caused by repetitive trauma to the hypothenar region of the hand, leading to vascular insufficiency.
- - Symptoms include cold intolerance, pain, paleness, and abnormal sensations (paresthesia) due to reduced blood flow (digital ischemia), which varies based on the ulnar artery blockage.
- - A 63-year-old man with bilateral Raynaud's phenomenon was treated with successful vascular repair surgery, highlighting the importance of recognizing hypothenar hammer syndrome as a reversible cause of Raynaud's symptoms.
Article Synopsis
- The study examines the rare occurrence of patients diagnosed with both rheumatoid arthritis (RA) and ankylosing spondylitis (AS), highlighting characteristics and clinical implications.
- It analyzed data from 81 patients, noting that the majority were men with a mean age of 53, and found significant symptoms including rheumatoid nodules and inflammatory lumbar pain.
- The findings suggest that patients with both conditions show more severe radiological patterns and higher rates of rheumatoid factor (RF) and HLA B-27 positivity compared to those with only one of the diseases, indicating a need for further research into this association.