Publications by authors named "Jonathan Gonzalez Sanchez"
Tuberculosis (TB) caused 1.5 million deaths in 2020, making it the leading infectious killer after COVID-19. Bacille Calmette-Guerin (BCG) is the only licensed vaccine against TB but has sub-optimal efficacy against pulmonary TB and reduced effectiveness in regions close to the equator with high burden.
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- CADASIL is a genetic disorder caused by NOTCH3 mutations, leading to symptoms like migraines, psychiatric issues, strokes, and dementia, primarily affecting executive functions.
- A study was conducted comparing symptomatic patients to healthy controls, using various methods like qRT-PCR and in situ hybridization to identify significant mRNA differences.
- Among the notably expressed mRNAs, E2F4 was linked to worse executive function and found in brain endothelial cells, with pathway analysis revealing a focus on vascular development and cell adhesion.
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- Haemorrhagic transformation is a serious complication of a treatment called recombinant tissue-plasminogen activator for stroke, with parenchymal haematoma leading to severe health issues.
- The study aimed to identify genetic variations that increase the risk of developing parenchymal haematoma after thrombolytic therapy in patients with acute ischaemic stroke using a large genome-wide meta-analysis of nearly 2,000 individuals.
- A specific single nucleotide polymorphism (rs76484331) within the ZBTB46 gene was significantly associated with parenchymal haematoma, suggesting the gene may play a critical role in this dangerous complication following stroke treatment.
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- Acenocoumarol is a blood thinner that shows different dosage needs among individuals due to genetic differences, specifically variants in CYP2C9 and VKORC1 genes.
- Researchers conducted a study on 78 Spanish stroke patients using a genome-wide association study to identify genetic variants linked to acenocoumarol dosage and complications like stroke recurrence and intracranial hemorrhage.
- They found 14 genetic variants related to dosage, with specific ones linked to stroke recurrence (6 variants) and intracranial hemorrhage (4 variants), emphasizing the importance of pharmacogenetic studies for improving anticoagulant therapy safety and effectiveness.
Stroke is a complex disease and one of the main causes of morbidity and mortality among the adult population. A huge variety of factors is known to influence patient outcome, including demographic variables, comorbidities or genetics. In this review, we expound what is known about the influence of clinical variables and related genetic risk factors on ischemic stroke outcome, focusing on acute and subacute outcome (within 24 to 48 hours after stroke and until day 10, respectively), as they are the first indicators of stroke damage.
View Article and Find Full Text PDFBackground and Purpose- Immune cells play a key role in the first 24h poststroke (acute phase), being associated with stroke outcome. We aimed to find genetic risk factors associated with leukocyte counts during the acute phase of stroke. Methods- Ischemic stroke patients with leukocyte counts data during the first 24h were included.
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