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result(s) for
"Díaz Belloso, Rafael"
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Understanding Parkinson disease in Spain: Genetic and clinical insights
by
Buiza‐Rueda, Dolores
,
Luque‐Ambrosiani, Antonio
,
Ojeda, Elena
in
Adult
,
Aged
,
Aged, 80 and over
2025
Background and purpose Parkinson disease (PD) is a complex and heterogeneous neurodegenerative disorder with a broad spectrum of clinical manifestations, determined by a complex interplay of environmental and genetic factors. This study aimed to investigate genetic variants associated with PD and assess their impact on the disease phenotype through genotype–phenotype correlations. Methods We employed a targeted resequencing panel to analyze 27 genes linked to PD in a cohort of 1185 PD patients from southern Spain. Variants were categorized based on the American College of Medical Genetics and Genomics pathogenicity criteria. Demographic and clinical data were also collected. Results Among the patients analyzed, 13.5% carried potential disease‐causing pathogenic or likely pathogenic variants in 12 different genes, indicating significant genetic heterogeneity. The most frequently affected genes were LRRK2, PRKN, and GBA1 (accounting for 72.1% of positive cases). Sex‐specific differences were observed, with a higher proportion of female patients carrying LRRK2 variants. Differences in age at onset and clinical features were also observed among the different mutated genes. Notably, variants in genes associated with atypical parkinsonism presented distinct clinical presentations, highlighting the importance of genetic factors in the differential diagnosis. Conclusions Our study provides valuable information on the genetic landscape of PD and its clinical manifestations. The observed genotype–phenotype correlations, along with sex‐specific differences, emphasize the complexity of PD pathogenesis, underlining the importance of personalized approaches to PD diagnosis and treatment. Further investigations into genetic interactions and population‐specific effects are warranted to enhance our understanding of PD etiology and improve patient care.
Journal Article
Peripheral inflammatory immune response differs among sporadic and familial Parkinson’s disease
by
Bonilla Toribio, Marta
,
Buiza Rueda, Dolores
,
Macías-García, Daniel
in
692/420/256
,
692/617/375/1718
,
Biomedical and Life Sciences
2023
Peripheral inflammatory immune responses are thought to play a major role in the pathogenesis of Parkinson’s disease (PD). The neutrophil-to-lymphocyte ratio (NLR), a biomarker of systemic inflammation, has been reported to be higher in patients with PD than in healthy controls (HCs). The present study was aimed at determining if the peripheral inflammatory immune response could be influenced by the genetic background of patients with PD. We included a discovery cohort with 222 patients with PD (132 sporadic PD, 44
LRRK2
-associated PD (with p.G2019S and p.R1441G variants), and 46
GBA
-associated PD), as well as 299 HCs. Demographic and clinical data were recorded. Leukocytes and their subpopulations, and the NLR were measured in peripheral blood. Multivariate lineal regression and post-hoc tests were applied to determine the differences among the groups. Subsequently, a replication study using the Parkinson’s Progression Markers Initiative cohort was performed which included 401 patients with PD (281 sPD patients, 66
LRRK2
-PD patients, 54
GBA
-PD patients) and a group of 174 HCs. Patients with sporadic PD and
GBA
-associated PD showed a significantly lower lymphocyte count, a non-significantly higher neutrophil count and a significantly higher NLR than HCs. The peripheral inflammatory immune response of patients with
LRRK2
-associated PD did not differ from HCs. Our study supports the involvement of a peripheral inflammatory immune response in the pathophysiology of sPD and
GBA
-associated PD. However, this inflammatory response was not found in
LRRK2
-associated PD, probably reflecting different pathogenic inflammatory mechanisms.
Journal Article
A Comparison of Pre- and Post-Clinical Simulation Anxiety Levels of Undergraduate Medical Students Before and During the COVID-19 Pandemic: A Prospective Cohort Study
by
Rabanales Sotos, Joseba
,
González-Izquierdo, Pablo
,
Sanz-García, Ancor
in
Antigens
,
Anxiety
,
Cohort analysis
2025
The aim of the present study was to compare the anxiety of undergraduate medical students who were conducting clinical simulation (CS) prepandemic, during the pandemic, and postvaccination. The participants carried out an emergency simulation in a high-fidelity clinical skills laboratory. A prospective, simulation-based clinical cohort study of sixth-year undergraduate medical students was performed over three time periods: from 1 January to 15 April 2019; from 28 September to 18 December 2020; and from 11 May to 18 May 2022. The primary outcome was anxiety level (pre- and postsimulation) measured with the STAI test. Data on student demographics and baseline vital signs (before CS) were collected. A total of 373 students were ultimately included. A total of 40.2% of the cases were prepandemic (150 cases), 20.4% were pandemic (76 cases), and 39.4% were postvaccination (147 cases). The study period had a statistically significant effect on anxiety. There was a statistically significant increase in the incidence of anxiety during the pandemic time period compared with that during the prepandemic and postvaccination periods; no difference was found between the prepandemic and postvaccination periods. Performing CS in biohazardous environments significantly increases anxiety levels, so establishing mitigating measures to minimize the undesired effects of anxiety and promote the simulation-based learning process is necessary. The study was carried out at a single university; in future studies, it is necessary to carry out multicenter investigations to confirm the results.
Journal Article