| 1. |
- Cruz, Raquel, et al.
(author)
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Novel genes and sex differences in COVID-19 severity
- 2022
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In: Human Molecular Genetics. - : Oxford University Press. - 0964-6906 .- 1460-2083. ; 31:22, s. 3789-3806
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Journal article (peer-reviewed)abstract
- Here, we describe the results of a genome-wide study conducted in 11 939 coronavirus disease 2019 (COVID-19) positive cases with an extensive clinical information that were recruited from 34 hospitals across Spain (SCOURGE consortium). In sex-disaggregated genome-wide association studies for COVID-19 hospitalization, genome-wide significance (P < 5 × 10−8) was crossed for variants in 3p21.31 and 21q22.11 loci only among males (P = 1.3 × 10−22 and P = 8.1 × 10−12, respectively), and for variants in 9q21.32 near TLE1 only among females (P = 4.4 × 10−8). In a second phase, results were combined with an independent Spanish cohort (1598 COVID-19 cases and 1068 population controls), revealing in the overall analysis two novel risk loci in 9p13.3 and 19q13.12, with fine-mapping prioritized variants functionally associated with AQP3 (P = 2.7 × 10−8) and ARHGAP33 (P = 1.3 × 10−8), respectively. The meta-analysis of both phases with four European studies stratified by sex from the Host Genetics Initiative (HGI) confirmed the association of the 3p21.31 and 21q22.11 loci predominantly in males and replicated a recently reported variant in 11p13 (ELF5, P = 4.1 × 10−8). Six of the COVID-19 HGI discovered loci were replicated and an HGI-based genetic risk score predicted the severity strata in SCOURGE. We also found more SNP-heritability and larger heritability differences by age (<60 or ≥60 years) among males than among females. Parallel genome-wide screening of inbreeding depression in SCOURGE also showed an effect of homozygosity in COVID-19 hospitalization and severity and this effect was stronger among older males. In summary, new candidate genes for COVID-19 severity and evidence supporting genetic disparities among sexes are provided.
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| 2. |
- Pastor, Ada, et al.
(author)
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Local and regional drivers of headwater streams metabolism : insights from the first AIL collaborative project
- 2017
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In: LIMNETICA. - : Asociacion Iberica de Limnologia. - 0213-8409 .- 1989-1806. ; 36:1, s. 67-85
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Journal article (peer-reviewed)abstract
- Streams play a key role in the global biogeochemical cycles, processing material from adjacent terrestrial systems and transporting it downstream. However, the drivers of stream metabolism, especially those acting at broad spatial scales, are still not well understood. Moreover, stream metabolism can be affected by hydrological changes associated with seasonality, and thus, assessing the temporality of metabolic rates is a key question to understand stream function. This study aims to analyse the geographical and temporal patterns in stream metabolism and to identify the main drivers regulating the whole ecosystem metabolic rates at local and regional scales. Using a coordinated distributed experiment, we studied ten headwaters streams located across five European ecoregions during summer and fall 2014. We characterized the magnitude and variability of gross primary production (GPP) and ecosystem respiration (ER) with the open-channel method. Moreover, we examined several climatic, geographical, hydrological, morphological, and physicochemical variables that can potentially control stream metabolic rates. Daily rates of stream metabolism varied considerately across streams, with GPP and ER ranging from 0.06 to 4.33 g O-2 m(-2) d(-1) and from 0.72 to 14.20 g O-2 m(-2) d(-1), respectively. All streams were highly heterotrophic (P/R < 1), except the southernmost one. We found that the drier climates tended to have the highest GPP, while humid regions presented the highest ER. Between the sampling periods no statistical differences were found. Partial-least squares models (PLS) explained similar to 80% of the variance in GPP and ER rates across headwater streams and included both local and regional variables. Rates of GPP varied primarily in response to the local variables, such as streambed substrate and stream water temperature. In contrast, regional variables, such as the mean annual temperature or the land use of the catchment, had more relevance to explain ER. Overall, our results highlight that stream metabolism depends on both local and regional drivers and show the positive experience of a young network of researchers to assess scientific challenges across large-scale geographic areas.
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| 3. |
- Ahmad, Shahzad, et al.
(author)
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CDH6 and HAGH protein levels in plasma associate with Alzheimer’s disease in APOE ε4 carriers
- 2020
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In: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 10:1
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Journal article (peer-reviewed)abstract
- Many Alzheimer’s disease (AD) genes including Apolipoprotein E (APOE) are found to be expressed in blood-derived macrophages and thus may alter blood protein levels. We measured 91 neuro-proteins in plasma from 316 participants of the Rotterdam Study (incident AD = 161) using Proximity Extension Ligation assay. We studied the association of plasma proteins with AD in the overall sample and stratified by APOE. Findings from the Rotterdam study were replicated in 186 AD patients of the BioFINDER study. We further evaluated the correlation of these protein biomarkers with total tau (t-tau), phosphorylated tau (p-tau) and amyloid-beta (Aβ) 42 levels in cerebrospinal fluid (CSF) in the Amsterdam Dementia Cohort (N = 441). Finally, we conducted a genome-wide association study (GWAS) to identify the genetic variants determining the blood levels of AD-associated proteins. Plasma levels of the proteins, CDH6 (β = 0.638, P = 3.33 × 10−4) and HAGH (β = 0.481, P = 7.20 × 10−4), were significantly elevated in APOE ε4 carrier AD patients. The findings in the Rotterdam Study were replicated in the BioFINDER study for both CDH6 (β = 1.365, P = 3.97 × 10−3) and HAGH proteins (β = 0.506, P = 9.31 × 10−7) when comparing cases and controls in APOE ε4 carriers. In the CSF, CDH6 levels were positively correlated with t-tau and p-tau in the total sample as well as in APOE ε4 stratum (P < 1 × 10−3). The HAGH protein was not detected in CSF. GWAS of plasma CDH6 protein levels showed significant association with a cis-regulatory locus (rs111283466, P = 1.92 × 10−9). CDH6 protein is implicated in cell adhesion and synaptogenesis while HAGH protein is related to the oxidative stress pathway. Our findings suggest that these pathways may be altered during presymptomatic AD and that CDH6 and HAGH may be new blood-based biomarkers.
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| 4. |
- Domínguez Del Campo, Marta, et al.
(author)
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Cross-cultural adaptation and psychometric properties of the Spanish Quality in Psychiatric Care Forensic Inpatient Staff (QPC-FIPS) instrument
- 2022
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In: Scientific Reports. - : Nature portfolio. - 2045-2322. ; 12:1
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Journal article (peer-reviewed)abstract
- Quality in Psychiatric Care-Forensic Inpatient Staff (QPC-FIPS) is an instrument of Swedish origin validated to measure the perception of the quality of mental health care provided by forensic psychiatry professionals. The aim of this study was to cross-culturally adapt the QPC-FIPS instrument and to evaluate the psychometric properties of the Spanish version of the instrument. A psychometric study was carried out. For validity, content validity, convergent validity and construct validity were included. For reliability, the analysis of internal consistency and temporal stability was included. The sample consisted of 153 mental health professionals from four Forensic Psychiatry units. The adapted Spanish version of the QPC-FIPS scale was configured with the same number of items and dimensions as the original. The psychometric properties, in terms of temporal stability and internal consistency, were adequate and the factor structure, such as the homogeneity of the dimensions of the Spanish version of the QPC-FIPS, was equivalent to the original Swedish version. We found that the QPC_FIPS-Spanish is a valid, reliable and easy-to-apply instrument for assessing the self-perception of professionals regarding the care they provide.
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| 5. |
- Meeter, Lieke H.H., et al.
(author)
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Clinical value of cerebrospinal fluid neurofilament light chain in semantic dementia
- 2019
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In: Journal of Neurology, Neurosurgery and Psychiatry. - : BMJ. - 0022-3050 .- 1468-330X. ; 90:9, s. 997-1004
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Journal article (peer-reviewed)abstract
- Background: Semantic dementia (SD) is a neurodegenerative disorder characterised by progressive language problems falling within the clinicopathological spectrum of frontotemporal lobar degeneration (FTLD). The development of disease-modifying agents may be facilitated by the relative clinical and pathological homogeneity of SD, but we need robust monitoring biomarkers to measure their efficacy. In different FTLD subtypes, neurofilament light chain (NfL) is a promising marker, therefore we investigated the utility of cerebrospinal fluid (CSF) NfL in SD. Methods: This large retrospective multicentre study compared cross-sectional CSF NfL levels of 162 patients with SD with 65 controls. CSF NfL levels of patients were correlated with clinical parameters (including survival), neuropsychological test scores and regional grey matter atrophy (including longitudinal data in a subset). Results: CSF NfL levels were significantly higher in patients with SD (median: 2326 pg/mL, IQR: 1628-3593) than in controls (577 (446-766), p<0.001). Higher CSF NfL levels were moderately associated with naming impairment as measured by the Boston Naming Test (rs=-0.32, p=0.002) and with smaller grey matter volume of the parahippocampal gyri (rs=-0.31, p=0.004). However, cross-sectional CSF NfL levels were not associated with progression of grey matter atrophy and did not predict survival. Conclusion: CSF NfL is a promising biomarker in the diagnostic process of SD, although it has limited cross-sectional monitoring or prognostic abilities.
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| 6. |
- Roldán-Merino, Juan Francisco, et al.
(author)
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Quality in Psychiatric Care in the Community Mental Health Setting from the Perspective of Patients and Staff
- 2023
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In: International Journal of Environmental Research and Public Health. - : MDPI. - 1661-7827 .- 1660-4601. ; 20:5
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Journal article (peer-reviewed)abstract
- The current paradigm of mental health care focuses on care provided in the community, increasingly moving away from hospital care models that involve considerable economic burden. Patient and staff perspectives on the quality of psychiatric care can highlight strengths and areas for improvement to ensure better care provision. The aim of this study was to describe and compare perceptions of quality of care among patients and staff in community mental health services and to determine possible relationships between these perceptions and other study variables. A comparative cross-sectional descriptive study was conducted in a sample of 200 patients and 260 staff from community psychiatric care services in the area of Barcelona (Spain). The results showed high overall levels of quality of care from patient (m = 104.35 ± 13.57) and staff (m =102.06 ± 8.80) perspectives. Patients and staff both gave high scores to Encounter and Support factors, while factors concerning patient Participation and Environment received the lowest scores. Continuous assessment of the quality of psychiatric care in the community setting is essential to ensure the highest quality of care, taking the perspectives of those involved into account.
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| 7. |
- Sanchez-Balcells, Sara, et al.
(author)
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A Spanish adaptation of the Quality in Psychiatric Care-Inpatient (QPC-IP) instrument : Psychometric properties and factor structure
- 2021
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In: BMC Nursing. - : BioMed Central. - 1472-6955. ; 20:1
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Journal article (peer-reviewed)abstract
- BACKGROUND AND AIM: Western countries share an interest in evaluating and improving quality of care in the healthcare field. The aim was to develop and examine the psychometric properties and factor structure of the Spanish version of the Quality in Psychiatric Care-Inpatient (QPC-IP) instrument.METHODS: A psychometric study was conducted, translating the QPC-IPS instrument into Spanish, revision of the instrument by a panel of experts, and assessing its psychometric properties. 150 psychiatric inpatients completed the QPC-IP. Test-retest reliability was assessed by re-administering the questionnaire to 75 of these patients.RESULTS: After conducting pilot testing and a cognitive interview with 30 inpatients, it was determined that the QPC-IPS was adequate and could be self-administered. A Cronbach's alpha of 0.94 was obtained for the full instrument and values of 0.52-0.89 for the various dimensions of the questionnaire. Test re test reliability: The Intraclass Correlation Coefficient for the full questionnaire was 0.69, while for the individual dimensions values between 0.62 and 0.74 were obtained, indicating acceptable temporal stability. Convergent validity was analysed using 10-point numerical satisfaction scale, giving a positive correlation (0.49). Confirmatory factor analysis revealed six factors consistent with the original scale. The Spanish version yielded adequate results in terms of validity and reliability.CONCLUSION: Our findings provide evidence of the convergent validity, reliability, temporal stability and construct validity of the Spanish QPC-IP for measuring patient quality in psychiatric care in Spanish hospitals. Hospital administrators can use this tool to assess and identify areas for improvement to enhance quality in psychiatric care.
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| 8. |
- Teunissen, Charlotte E, et al.
(author)
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Blood-based biomarkers for Alzheimer's disease: towards clinical implementation.
- 2022
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In: The Lancet. Neurology. - 1474-4465 .- 1474-4422. ; 21:1, s. 66-77
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Journal article (peer-reviewed)abstract
- For many years, blood-based biomarkers for Alzheimer's disease seemed unattainable, but recent results have shown that they could become a reality. Convincing data generated with new high-sensitivity assays have emerged with remarkable consistency across different cohorts, but also independent of the precise analytical method used. Concentrations in blood of amyloid and phosphorylated tau proteins associate with the corresponding concentrations in CSF and with amyloid-PET or tau-PET scans. Moreover, other blood-based biomarkers of neurodegeneration, such as neurofilament light chain and glial fibrillary acidic protein, appear to provide information on disease progression and potential for monitoring treatment effects. Now the question emerges of when and how we can bring these biomarkers to clinical practice. This step would pave the way for blood-based biomarkers to support the diagnosis of, and development of treatments for, Alzheimer's disease and other dementias.
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| 9. |
- Tomás-Jiménez, Manuel, et al.
(author)
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Adaptation, psychometric properties and factor structure of the Spanish Quality in Psychiatric Care-Outpatient Staff (QPC-OPS) instrument
- 2022
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In: Scientific Reports. - : Nature Publishing Group. - 2045-2322. ; 12:1
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Journal article (peer-reviewed)abstract
- Quality of care is a multidimensional concept that should include the perspectives of all parties involved. There are few instruments with adequate psychometric properties for the assessment of the quality of psychiatric care in community mental health. Quality in Psychiatric Care-Outpatient Staff (QPC-OPS) instrument has adequate psychometric properties to evaluate the quality of psychiatric care from the perspective of professionals. The aim of this study was to validate the Spanish version of the QPC-OPS instrument. The instrument was translated and back-translated, and then was administered to 260 professionals from distinct community mental health services. To assess test-retest reliability, it was re-administered after 7-14 days (n = 157). Confirmatory factor analysis revealed an 8-factor-structure identical to the original version, showing the good fit of the model. The internal consistency coefficient (Cronbach's alpha) was 0.885. The intraclass correlation coefficient was 0.847 (95% IC 0.790-0.888), which was higher than 0.70 in all factors bar one. The NT394 General Satisfaction Scale was used for analysis of convergent validity showing a rho correlation of 0.31 (p < 0.0001). Results show that the Spanish version of the QPC-OPS instrument is valid and reliable for the assessment of the quality of psychiatric care in the community setting.
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| 10. |
- Tomás-Jiménez, Manuel, et al.
(author)
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Spanish adaptation of the quality in psychiatric care-outpatient (QPC-OP) instrument community mental health patients' version : psychometric properties and factor structure
- 2022
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In: BMC Nursing. - : BioMed Central (BMC). - 1472-6955. ; 21:1
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Journal article (peer-reviewed)abstract
- BACKGROUND: Health systems in the field of mental health are strongly committed to community models that allow patients to be attended in their own environment. This helps them to maintain their family and social ties while trying to avoid costly hospital admissions. The patients' perspective is a key component in the assessment of the quality of psychiatric care and can even determine their adherence to the devices where they are treated. However, there are few instruments with adequate psychometric properties for the evaluation of the quality of psychiatric care in community mental health. The Quality in Psychiatric Care - Outpatient (QPC-OP) instrument has adequate psychometric properties to assess the quality of psychiatric care from the patients' perspective. The aim of this study was to adapt and validate the Spanish version of the QPC-OP instrument.METHODS: A translation and back-translation of the instrument was carried out. To examine its psychometric properties, the instrument was administered to 200 patients attending various community mental health services. To assess test-retest reliability, the instrument was readministered after 7-14 days (n = 98).RESULTS: The Confirmatory Factor Analysis revealed a structure of 8 factors identical to the original version, with an adequate model fit. The internal consistency coefficient (Cronbach's alpha) was 0.951. The intraclass correlation coefficient was 0.764 (95% IC: 0.649 - 0.842), and higher than 0.70 in 5 of the 8 factors. Additionally, an EFA was performed and revealed that the instrument could behave in a unifactorial or four factor manner in the sample analyzed.CONCLUSIONS: Results show that the Spanish version of the QPC-OP instrument is valid and reliable for the assessment of quality of psychiatric care in the community setting.
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