Publications by authors named "Miguel Angel Torralba"
Article Synopsis
- - The study analyzed ocular abnormalities in 9 Spanish patients with Gaucher's disease type I and compared them to 40 healthy controls, focusing on various ophthalmological parameters but found no significant differences in visual acuity or eye measurements.
- - A moderate correlation was found between lower retinal and choroidal thickness and more severe forms of the disease, as well as certain biological markers indicating disease severity.
- - Overall, the research indicates that specific ocular measurements, particularly retinal thickness and pachymetry, may be linked to the severity of Gaucher's disease and genetic factors, even if visual acuity remains unaffected.
Article Synopsis
- Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic vascular disorder primarily linked to mutations in the ENG and ACVRL1 genes, with over 90% of cases having identifiable genetic variants.
- A study of 215 HHT patients in Spain revealed that 80% met the Curaçao criteria for diagnosis, with ACVRL1 mutations occurring in 68.1% of those genetically tested, while 31.8% had ENG mutations.
- The findings indicated that patients with ENG mutations tend to be diagnosed at a younger age and have more pulmonary and cerebral arteriovenous malformations, whereas ACVRL1 patients experience higher rates of liver disease and anemia.
Article Synopsis
- The study investigates whether plasma Lyso-Gb3 levels can help differentiate between multiple sclerosis (MS) and Anderson-Fabry disease (FD) in patients already diagnosed with MS, particularly focusing on a Spanish cohort.
- Researchers analyzed α-galactosidase A enzyme activity and GLA gene variants in 154 MS patients, with the aim of identifying any correlation with the presence of FD.
- Findings show that all subjects had Lyso-Gb3 levels below the critical threshold of 3.5 ng/mL, suggesting that these patients do not have FD, thus supporting the use of Lyso-Gb3 concentration as a reliable diagnostic tool.
in Spanish Patients With Heart Failure.
Izarbe Merino-Casallo Vicente Friaza Sebastián Menao José María Domingo Susana Olivera Miguel Ángel Torralba
Front Public Health
October 2019
Article Synopsis
- Colonization in patients with COPD leads to inflammation that may affect heart failure, which is a common and serious condition associated with high morbidity.
- The study aimed to explore the prevalence of colonization in heart failure patients and its link to heart function, specifically ejection fraction.
- Results showed very low colonization rates, suggesting that it likely doesn’t significantly contribute to the development of heart failure symptoms.
Spatiotemporal characteristics of motor actions by blind long jump athletes.
BMJ Open Sport Exerc Med
September 2017
Article Synopsis
- Blind athletes rely on spatial and temporal cues to perform in sports, and this study focuses on analyzing the long jump dynamics specific to them compared to sighted athletes.
- The research used high-speed cameras and radar to assess 12 male blind athletes' performances, finding they have shorter run-ups and different speed dynamics in their final strides than sighted athletes.
- Results show that blind long jumpers have a longer contact time with the take-off board and do not adjust their leg actions for optimal jump distance like sighted athletes do.