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Font-Ribera L.,Center for Research in Environmental Epidemiology | Font-Ribera L.,IMIM Hospital del Mar | Font-Ribera L.,University Pompeu Fabra | Kogevinas M.,Center for Research in Environmental Epidemiology | And 24 more authors.
Environmental Health Perspectives | Year: 2010

Background: Swimming in chlorinated pools involves exposure to disinfection by-products (DBPs) and has been associated with impaired respiratory health. Objectives: We evaluated short-term changes in several respiratory biomarkers to explore mechanisms of potential lung damage related to swimming pool exposure. Methods: We measured lung function and biomarkers of airway inflammation [fractional exhaled nitric oxide (FeNO), eight cytokines, and vascular endothelial growth factor (VEGF) in exhaled breath condensate], oxidative stress (8-isoprostane in exhaled breath condensate), and lung permeability [surfactant protein D (SP-D) and the Clara cell secretory protein (CC16) in serum] in 48 healthy nonsmoking adults before and after they swam for 40 min in a chlorinated indoor swimming pool. We measured trihalomethanes in exhaled breath as a marker of individual exposure to DBPs. Energy expenditure during swimming, atopy, and CC16 genotype (rs3741240) were also determined. Results: Median serum CC16 levels increased from 6.01 to 6.21 μg/L (average increase, 3.3%; paired Wilcoxon test p = 0.03), regardless of atopic status and CC16 genotype. This increase was explained both by energy expenditure and different markers of DBP exposure in multivariate models. FeNO was unchanged overall but tended to decrease among atopics. We found no significant changes in lung function, SP-D, 8-isoprostane, eight cytokines, or VEGF. Conclusions: We detected a slight increase in serum CC16, a marker of lung epithelium permeability, in healthy adults after they swam in an indoor chlorinated pool. Exercise and DBP exposure explained this association, without involving inflammatory mechanisms. Further research is needed to confirm the results, establish the clinical relevance of short-term serum CC16 changes, and evaluate the long-term health impacts.

PubMed | Hospital Clinic IDIBAPS Institute dInvestigacions Biomediques August Pi I Sunyer
Type: Case Reports | Journal: Journal of neurology | Year: 2013

In Parkinsons disease (PD), cognitive decline and psychiatric symptoms may occur and very often co-exist, eventually leading to PD-dementia. We report three patients with PD who presented striking psychiatric manifestations along with mild cognitive decline not progressing to dementia across the course of disease and in which postmortem neuropathological study revealed, besides alpha-synuclein inmunoreactive Lewy-body pathology, concomitant four-repeat tau positive argyrophilic grain pathology. We consider that argyrophilic grains might have modulated the clinical presentation of PD in these patients, being the main substrate of their prominent psychiatric symptoms in the absence of definite dementia.

PubMed | Hospital Clinic & IDIBAPS Institute dInvestigacions Biomediques August Pi i Sunyer
Type: Evaluation Studies | Journal: The British journal of dermatology | Year: 2015

Histological features such as Breslow thickness, ulceration and mitosis are the main criteria to guide sentinel lymph node biopsy (SLNB) in melanoma. Dermoscopy may add complementary information to these criteria.To evaluate the correlation between dermoscopy structures and SLNB positivity.Retrospective analysis of 123 consecutive melanomas with Breslow thickness > 075 mm, SLNB performed during follow-up and dermoscopic images.Men were more likely to have a positive SLNB. The presence of ulceration and blotch and the absence of a pigmented network in dermoscopy correlated with positive SLNB. Histological ulceration also correlated with positive SLNB. A dermoscopy SCORE predicted SLN status with a sensitivity of 963% and a specificity of 302%. When sex and Breslow thickness were added (SCOREBRESEX), the sensitivity remained at 963% but the specificity increased to 521%. This study is limited by the number of patients and was performed in only one institution.Dermoscopy allowed a more precise prediction of SLN status. If a combined SCOREBRESEX was used to select patients for SLNB, 415% of procedures might be avoided.

PubMed | Hospital Clinic & IDIBAPS Institute dInvestigacions Biomediques August Pi i Sunyer
Type: Evaluation Studies | Journal: The British journal of dermatology | Year: 2014

The number needed to treat (NNT) ratio is an effective method for measuring accuracy in melanoma detection. Dermoscopy reduces the number of false positives and subsequently unnecessary excisions. In vivo reflectance confocal microscopy (RCM) is a noninvasive technique that allows examination of the skin with cellular resolution.To assess the impact of RCM analysis on the number of equivocal lesions, assumed to be melanocytic, excised for every melanoma.Consecutive patients (n=343) presenting with doubtful lesions were considered for enrolment. The lesions were analysed by dermoscopy and RCM, with histopathological assessment considered the reference standard. The main outcome was the NNT, calculated as the proportion of equivocal lesions excised for every melanoma.Dermoscopy alone obtained a hypothetical NNT of 373; the combination of dermoscopy and RCM identified 264 equivocal lesions that qualified for excision, 92 of which were confirmed to be a melanoma, resulting in an NNT of 287, whereas the analysis of RCM images classified 103 lesions as melanoma, with a consequent NNT of 112. The difference in the reduction of this ratio was statistically significant between the three groups (P<00001). There was no significant improvement in sensitivity when comparing the combination of dermoscopy and RCM with RCM alone (946% vs. 978%; P=0043). However, the differences between specificities were statistically significant (P<110(-6) ), favouring RCM alone.The addition of RCM analysis to dermoscopy reduces unnecessary excisions with a high diagnostic accuracy and could be a means for reducing the economic impact associated with the management of skin cancer.

PubMed | RTI Healtlh Solutions, Hospital Clinic & IDIBAPS Institute dInvestigacions Biomediques August Pi i Sunyer, Institute Dinvestigacions Biomediques August Pi nyer Idibaps Hospital Clinic Of Barcelona Research Center Sobre Enfermedades Neurodegenerativas Ciberned and Autonomous University of Barcelona
Type: | Journal: Journal of Alzheimer's disease : JAD | Year: 2017

Despite the recent identification of some novel risk genes for Alzheimers disease (AD), the genetic etiology of late-onset Alzheimers disease (LOAD) remains largely unknown. The inclusion of these novel risk genes to the risk attributable to the APOE gene accounts for roughly half of the total genetic variance in LOAD. The evidence indicates that undiscovered genetic factors may contribute to AD susceptibility. In the present study, we sequenced the MC1R gene in 525 Spanish LOAD patients and in 160 controls. We observed that a common MC1R variant p.V92M (rs2228479), not related to pigmentation traits, was present in 72 (14%) patients and 15 (9%) controls and confers increased risk of developing LOAD (OR: 1.99, 95% CI: 1.08-3.64, p=0.026), especially in those patients whose genetic risk could not be explained by APOE genotype. This association remains and even increased in the subset of 69 patients with typical AD cerebrospinal fluid profile (OR: 3.40 95% CI: 1.40-8.27, p=0.007). We did not find an association between p.V92M and age of onset of AD. Further studies are necessary to elucidate the role of MC1R in brain cells through the different MC1R pathways.

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