Catalogue Search | MBRL
Search Results Heading
Explore the vast range of titles available.
MBRLSearchResults
-
DisciplineDiscipline
-
Is Peer ReviewedIs Peer Reviewed
-
Item TypeItem Type
-
SubjectSubject
-
YearFrom:-To:
-
More FiltersMore FiltersSourceLanguage
Done
Filters
Reset
68
result(s) for
"Carrillo, Fátima"
Sort by:
GBA Variants Influence Motor and Non-Motor Features of Parkinson’s Disease
2016
The presence of mutations in glucocerebrosidase (GBA) gene is a known factor increasing the risk of developing Parkinson's disease (PD). Mutations carriers have earlier disease onset and are more likely to develop neuropsychiatric symptoms than other sporadic PD cases. These symptoms have primarily been observed in Parkinson's patients carrying the most common pathogenic mutations L444P and N370S. However, recent findings suggest that other variants across the gene may have a different impact on the phenotype as well as on the disease progression. We aimed to explore the influence of variants across GBA gene on the clinical features and treatment related complications in PD. In this study, we screened the GBA gene in a cohort of 532 well-characterised PD patients and 542 controls from southern Spain. The potential pathogeniticy of the identified variants was assessed using in-silico analysis and subsequently classified as benign or deleterious. As a result, we observed a higher frequency of GBA variants in PD patients (12.2% vs. 7.9% in controls, p = 0.021), earlier mean age at disease onset in GBA variant carriers (50.6 vs. 56.6 years; p = 0.013), as well as more prevalent motor and non-motor symptoms in patients carrying deleterious variants. In addition, we found that dopaminergic motor complications are influenced by both benign and deleterious variants. Our results highlight the fact that the impact on the phenotype highly depends on the potential pathogenicity of the carried variants. Therefore, the course of motor and non-motor symptoms as well as treatment-related motor complications could be influenced by GBA variants.
Journal Article
Agrivoltaics in Tropical Climates: Distributed Generation Proposal for CO2 Reduction in Luxury Hotels
by
Orozco Guillen, Eber Enrique
,
Mercado Arias, Juan Francisco
,
Dibene Arriola, Luis Martin
in
agrivoltaics
,
Alternative energy sources
,
Energy consumption
2025
Luxury beach hotels in tropical climates are large consumers of electricity, negatively impacting the environment and their profit margins. Energy efficiency and the incorporation of clean energy are among the main actions contributing to reducing this problem, but the implementation of this second solution is minimal among these types of hotels. A case study was conducted, and it was found that this is primarily due to a lack of space in their facilities. Solutions are proposed by implementing agrivoltaics farms in the areas adjacent to the destination studied. The project is technically, economically, and legally feasible, and the proposed agrivoltaics farms could supply nearly 580 million kWh annually, mitigating emissions of just over 390,000 tCO2e/year and making Puerto Vallarta and Nuevo Vallarta a “Green Destination”, thus contributing to meeting international GHG mitigation targets.
Journal Article
Peripheral immune profile and neutrophil‐to‐lymphocyte ratio in progressive supranuclear palsy: Case–control study and meta‐analysis
by
Luque‐Ambrosiani, Antonio
,
Zamora, Belén Benítez
,
Ojeda‐Lepe, Elena
in
Aged
,
Biomarkers
,
Case-Control Studies
2024
Background and purpose Peripheral inflammation is probably involved in the pathogenesis of progressive supranuclear palsy (PSP) and it may be a common feature with Parkinson's disease (PD). The peripheral immune profile in PSP remains unclear, as well as whether the inflammatory pathways differ from those in PD. The neutrophil‐to‐lymphocyte ratio (NLR) has been proven to be a well‐established biomarker of systemic inflammation. This study aimed to evaluate the peripheral immune profile in PSP compared with PD. Methods A cross‐sectional study was conducted including patients with PSP and PD and healthy controls (HCs). Leukocyte subpopulations and the NLR were measured in peripheral blood. Multivariate linear regression and post hoc tests were applied. Electronic databases were searched in November 2023 to perform meta‐analyses to clarify the peripheral immune profile in PSP. Results Our cohort included 121 patients with PSP, 127 patients with PD and 266 HCs. The NLR was higher in PSP and PD compared with HCs. PSP had a higher neutrophil count compared with HCs. Whilst a lower lymphocyte count was found in PD compared with HCs, the lymphocyte count did not differ between PSP and HCs. The meta‐analyses supported this immune profile. Conclusions PSP and PD show an increased peripheral inflammation and a higher NLR compared with HCs. Different pathogenic inflammatory mechanisms are probably involved in PSP and PD, since in PSP this altered peripheral immune profile is mainly driven by neutrophils. Understanding the neutrophils' role in PSP may allow for the development of targeted therapies.
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
Lower levels of uric acid and striatal dopamine in non-tremor dominant Parkinson's disease subtype
2017
Parkinson's disease (PD) patients who present with tremor and maintain a predominance of tremor have a better prognosis. Similarly, PD patients with high levels of uric acid (UA), a natural neuroprotectant, have also a better disease course. Our aim was to investigate whether PD motor subtypes differ in their levels of UA, and if these differences correlate with the degree of dopamine transporter (DAT) availability. We included 75 PD patients from whom we collected information about their motor symptoms, DAT imaging and UA concentration levels. Based on the predominance of their motor symptoms, patients were classified into postural instability and gait disorder (PIGD, n = 36), intermediate (I, n = 22), and tremor-dominant (TD, n = 17) subtypes. The levels of UA and striatal DAT were compared across subtypes and the correlation between these two measures was also explored. We found that PIGD patients had lower levels of UA (3.7 vs 4.5 vs 5.3 mg/dL; P<0.001) and striatal DAT than patients with an intermediate or TD phenotype. Furthermore, UA levels significantly correlated with the levels of striatal DAT. We also observed that some PIGD (25%) and I (45%) patients had a predominance of tremor at disease onset. We speculate that UA might be involved in the maintenance of the less damaging TD phenotype and thus also in the conversion from TD to PIGD. Low levels of this natural antioxidant could lead to a major neuronal damage and therefore influence the conversion to a more severe motor phenotype.
Journal Article
Benthic Infauna in the Shallow-Water Hydrothermal System of Banderas Bay, Mexico: A Two-Period Comparison
by
Salazar-Silva, Patricia
,
Jarquín-González, Jani
,
Raymundo-Huizar, Alma Rosa
in
Benthic communities
,
benthic invertebrate
,
Benthos (Aquatic organisms)
2025
At a depth of approximately 9 m off the coast of Banderas Bay, hydrothermal activity occurs through various seabed vents, discharging liquids and gases that reach temperatures of up to 89 °C and pH values lower than the surrounding seawater. This study examines the composition of the benthic infauna inhabiting the sediments of this hydrothermal system in two time periods: November 2017 (previously reported) and September 2023 (recorded for this study). In total, for both samplings, we identified 17 benthic infaunal groups—amphipods, isopods, cumaceans, tanaidaceans, crabs, shrimps, copepods, snails, limpets, caecids, chitons, bivalves, scaphopods, polychaetes, amphioxus, ophiuroids, and bryozoans—belonging to these ten taxonomic classes: Malacostraca, Maxillopoda, Gastropoda, Polyplacophora, Bivalvia, Scaphopoda, Polychaeta, Leptocardii, Ophiuroidea, and Stenolaemata. Additionally, we identified galleries of polychaetes, vermetids, and peracarids. Despite the stressful hydrothermal conditions, statistical analyses of both sampling campaigns revealed no significant differences in abundance, highlighting the potential persistence and adaptability of benthic communities in hydrothermally influenced habitats.
Journal Article
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
Nature’s Contributions to People in Vulnerability Studies When Assessing the Impact of Climate Change on Coastal Landscapes
by
Nájera González, Areli
,
Canales-Gómez, Eréndira
,
Téllez López, Jorge
in
Biodiversity
,
Case studies
,
Climate change
2022
The geographic landscape is a recurrent unit of analysis in vulnerability studies. Single descriptions are often used to show the elements exposed in these landscapes. However, the concept requires specifying the components of the landscape and its functioning as a unit. Thus, the purpose of this research was to use the analysis of Nature’s Contributions to People (NCP) to describe the global contribution of landscape elements to human activities, prioritizing the units in which the effects of climate change may imply greater impacts on the human population. For this, we analyzed six categories of nature’s contributions applied to the landscape units in a fragment of the Mexican Pacific coast. The units with mangrove cover had the highest nature contributions. It is expected that the application of this approach in the exposure component of vulnerability studies will allow a better understanding of the non-return relationship and the search for adaptive nature-based solutions.
Journal Article
Long-term levodopa/carbidopa intestinal gel in advanced Parkinson’s disease
by
Lama, María J.
,
Huertas-Fernández, Ismael
,
Cáceres-Redondo, María T.
in
Aged
,
Antiparkinson Agents - administration & dosage
,
Antiparkinson Agents - pharmacology
2014
The short-term benefits of levodopa/carbidopa intestinal gel (LCIG) in patients with advanced Parkinson’s disease (PD) are well documented, but the long-term benefits are still uncertain. The aim of this study was to investigate the motor and cognitive outcome of LCIG treatment in advanced PD after a follow-up period of at least 24 months. We assessed 29 patients with advanced PD who started LCIG infusion at our centre between 2007 and 2013. Motor fluctuations, parkinsonian symptoms, activities of daily living and impact on quality of life were evaluated. We also investigated the cognitive outcome using a battery of neuropsychological tests. All adverse events were recorded. Of the 29 PD patients who initiated LCIG, 16 patients reached the follow-up evaluation (24 months), after a mean time period of 32.2 ± 12.4 months. Six patients did not fulfil the 24-month follow-up visit and were evaluated after a mean time period of 8.6 ± 5.4 months. Seven patients discontinued the treatment before the scheduled visit. “Off” time and “On” dyskinesia duration were significantly reduced. LCIG improved quality of life and non motor symptoms, despite overall unchanged total levodopa doses prior to LCIG beginning. Motor and cognitive decline were detected. A relatively high number of adverse events occurred during the follow-up, above all, technical problems with the infusion device and mild problems related with gastrostomy. There were four cases of peripheral neuropathy (PN), 2 of which were considered serious. Our data confirm that LCIG is beneficial in the long-term treatment of advanced PD patients despite a decline in cognitive functions in a subgroup of patients, probably due to disease progression. PN in patients with LCIG may be more frequent than the published date suggest.
Journal Article
Clinical features and 123I-FP-CIT SPECT imaging in vascular parkinsonism and Parkinson's disease
by
Cáceres, María Teresa
,
Marín-Oyaga, Víctor A
,
Huertas-Fernández, Ismael
in
123I-FP-CIT SPECT imaging
,
Aged
,
Alzheimer's disease
2013
Objectives To analyse the differences in the clinical features and characteristics of 123I-labelled 2β-carbomethoxy-3β-(4-iodophenyl)-N-(3-fluoropropyl) nortropane (123I-FP-CIT) single photon emission CT (SPECT) imaging among patients with vascular parkinsonism (VP) and Parkinson's disease (PD). Methods We performed a case–control study to compare clinical features and qualitative and semi-quantitative analyses of 123I-FP-CIT SPECT images between 106 patients with VP and 280 patients with PD. A case series study was used to search for clinical features related to SPECT or neuroimaging findings among patients with VP. Results Patients with VP had a higher age at symptom onset and lower disease duration than patients with PD. The most frequent symptom at onset was gait disorder in VP and tremor in PD. Gait disorder, postural instability and falls were more frequent in VP. Rest and mixed tremor were more prevalent in PD. Of the patients who received levodopa treatment in the VP group, only about half had a good response. Qualitatively 123I-FP-CIT SPECT images were normal in 32.5% of patients with VP and abnormal in all patients with PD. The use of different visual score patterns showed higher ability to differentiate VP from PD. Semi-quantitative analysis showed significantly higher uptake in the striatum, caudate and putamen in VP. The asymmetry index was higher in patients with PD. Among patients with VP, falls were the only clinical feature that demonstrated a correlation with the SPECT visual pattern. Conclusion Our data contribute to the confirmation that VP and PD are two different clinical entities. Neurological signs, response to treatment and qualitative and semi-quantitative 123I-FP-CIT SPECT analyses may help to make the diagnosis.
Journal Article