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1.
Neurol Sci ; 45(8): 4027-4031, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38695968

RESUMEN

BACKGROUND: Clinical researchers increasingly embrace social media in their professional lives. The digital revolution has provided new routes for sharing data, disseminating results, and promoting the impact of scientific findings. In this study, we explored the attitude of the members of the Italian Society of Neurology for the study of dementia (SINdem) to use social media with the aim to set up possible corrective actions to maximize digitalization benefits at the individual and community levels. METHOD: An ad hoc designed survey was implemented and distributed to the SINdem and SINdem4Juniors communities. It explored the different use of social media taking into account frequency, type of social media use (active vs passive; professional vs private). Descriptive statistical analyses were performed alongside statistical comparisons to highlight possible differences in the use. RESULTS: We collected 133 answers showing a prominent use of social media in private life (t(132) = 21.1, p < 0.001), with SINdem4Juniors members showing a higher private use compared to the older SINdem colleagues. Professional use was mainly limited to passive activities such as following others' social profiles (t(132) = 11.9, p < 0.001). DISCUSSION: Overall scenario suggests that professional use of social media is very limited in both SINdem and SINdem4juniors communities. This evidence points to an urgent need for training interventions and top-down strategies aimed at improving collaboration, dissemination, and sharing through social media among individuals belonging to the same scientific-professional community.


Asunto(s)
Demencia , Medios de Comunicación Sociales , Sociedades Médicas , Humanos , Medios de Comunicación Sociales/estadística & datos numéricos , Italia , Masculino , Femenino , Persona de Mediana Edad , Neurología , Adulto , Anciano , Encuestas y Cuestionarios
2.
BMC Public Health ; 24(1): 374, 2024 02 05.
Artículo en Inglés | MEDLINE | ID: mdl-38317123

RESUMEN

BACKGROUND: On line platforms offer access to an almost unlimited variety of pornographic material that shows high levels of sexism. Despite this fact, there are still few studies that assess the effect of pornography on sexism in young adults The aim of this study is to analyze the association of pornography consumption and sexual orientation with benevolent sexism (BS) and hostile sexism (HS) in young men and women. METHODS: We surveyed 2,346 people aged 18-35 years old. Multiple regression models were carried out for BS and HS. The independent variables: current pornography consumption and sexual orientation. Covariates: socio-demographic variables -age, sex, level of education and place of birth-. RESULTS: A) HS: Men who consumed pornography had higher median values of HS than those who did not [ß(95%CI):2.39(0.67;4.10)]. Homosexual/ bisexual men displayed lower values of HS than heterosexual men [ß(95%CI):-2.98(-4.52;-1.45)]. The increase in HS levels associated with pornography consumption was notably greater in homosexual and bisexual women relative to heterosexual women, where that pattern was not observed [ß(95%CI for interaction): 2.27(0.11; 4.43)]. B) BS: Mean values of BS were observed to be lower for both women [ß(95%CI):-2.16(-2.99;-1.32)] and men [ß(95%CI):-4.30(-5.75;-2.86)] who consumed pornography compared to those who did not. Homosexual/bisexual men recorded mean values of BS lower than heterosexual men [ß(95%CI):-3.10(-4.21;-1.99)]. CONCLUSIONS: Pornography consumption is related to sexism and differs according to sex and sexual orientation. As sexism is the substratum of inequality between men and women, it is urgent to launch affective-sexual education programs for young people that take into account the determinants of sexism.


Asunto(s)
Literatura Erótica , Sexismo , Humanos , Femenino , Masculino , Adulto Joven , Adolescente , Adulto , España , Conducta Sexual , Heterosexualidad
3.
Brain ; 145(10): 3711-3722, 2022 10 21.
Artículo en Inglés | MEDLINE | ID: mdl-35325049

RESUMEN

Sulphated proteoglycans are essential in skeletal and brain development. Recently, pathogenic variants in genes encoding proteins involved in the proteoglycan biosynthesis have been identified in a range of chondrodysplasia associated with intellectual disability. Nevertheless, several patients remain with unidentified molecular basis. This study aimed to contribute to the deciphering of new molecular bases in patients with chondrodysplasia and neurodevelopmental disease. Exome sequencing was performed to identify pathogenic variants in patients presenting with chondrodysplasia and intellectual disability. The pathogenic effects of the potentially causative variants were analysed by functional studies. We identified homozygous variants (c.1218_1220del and c.1224_1225del) in SLC35B2 in two patients with pre- and postnatal growth retardation, scoliosis, severe motor and intellectual disabilities and hypomyelinating leukodystrophy. By functional analyses, we showed that the variants affect SLC35B2 mRNA expression and protein subcellular localization leading to a functional impairment of the protein. Consistent with those results, we detected proteoglycan sulphation impairment in SLC35B2 patient fibroblasts and serum. Our data support that SLC35B2 functional impairment causes a novel syndromic chondrodysplasia with hypomyelinating leukodystrophy, most likely through a proteoglycan sulphation defect. This is the first time that SLC35B2 variants are associated with bone and brain development in human.


Asunto(s)
Discapacidad Intelectual , Humanos , Discapacidad Intelectual/genética , Homocigoto , Secuenciación del Exoma , Proteoglicanos/genética , ARN Mensajero , Transportadores de Sulfato/genética
4.
BMC Public Health ; 23(1): 2477, 2023 12 11.
Artículo en Inglés | MEDLINE | ID: mdl-38082284

RESUMEN

BACKGROUND: The consequences of cancer on working until retirement age remain unclear. This study aimed to analyse working life considering all possible labour market states in a sample of workers after sickness absence (SA) due to cancer and to compare their working life paths to those of a sample of workers without SA and with an SA due to other diseases. METHODS: This was a retrospective dynamic cohort study among social security affiliates in Catalonia from 2012-2018. Cases consisted of workers with an SA due to cancer between 2012-2015 (N = 516) and were individually age- and sex-matched with those of affiliates with an SA due to other diagnoses and workers without an SA. All workers (N = 1,548, 56% women) were followed up from entry into the cohort until the end of 2018 to characterise nine possible weekly labour states. Sequence analysis, optimal matching, and multinomial logistic regression were used to identify and assess the probability of future labour market participation patterns (LMPPs). All analyses were stratified by sex. RESULTS: Compared with workers with an SA due to cancer, male workers with no SA and SA due to other causes showed a lower probability of being in the LMPP of death (aRRR 0.02, 95% CI: 0.00‒0.16; aRRR 0.17, 95% CI: 0.06‒0.46, respectively) and, among women, a lower probability of permanent disability and death (aRRR 0.24, 95% CI: 0.10‒0.57; aRRR 0.39, 95% CI: 0.19‒0.83, respectively). Compared to workers with SA due to cancer, the risk of early retirement was lower among workers with no SA (women, aRRR 0.60, 95% CI: 0.22‒1.65; men, aRRR 0.64, 95% CI: 0.27‒1.52), although these results were not statistically significant. CONCLUSIONS: Workplaces, many of which have policies common to all diagnoses, should be modified to the needs of cancer survivors to prevent an increasing frequency of early retirement and permanent disability when possible. Future studies should assess the impact of cancer on premature exit from the labour market among survivors, depending on cancer localisation and type of treatment.


Asunto(s)
Empleo , Neoplasias , Humanos , Masculino , Femenino , Estudios de Cohortes , España/epidemiología , Estudios Retrospectivos , Ocupaciones , Neoplasias/epidemiología , Ausencia por Enfermedad
5.
Acta Neuropathol ; 144(2): 241-258, 2022 08.
Artículo en Inglés | MEDLINE | ID: mdl-35778568

RESUMEN

Aberrant endocannabinoid signaling accompanies several neurodegenerative disorders, including multiple sclerosis. Here, we report altered endocannabinoid signaling in X-linked adrenoleukodystrophy (X-ALD), a rare neurometabolic demyelinating syndrome caused by malfunction of the peroxisomal ABCD1 transporter, resulting in the accumulation of very long-chain fatty acids (VLCFAs). We found abnormal levels of cannabinoid receptor 2 (CB2r) and related endocannabinoid enzymes in the brain and peripheral blood mononuclear cells (PBMCs) of X-ALD patients and in the spinal cord of a murine model of X-ALD. Preclinical treatment with a selective agonist of CB2r (JWH133) halted axonal degeneration and associated locomotor deficits, along with normalization of microgliosis. Moreover, the drug improved the main metabolic disturbances underlying this model, particularly in redox and lipid homeostatic pathways, including increased lipid droplets in motor neurons, through the modulation of the GSK-3ß/NRF2 axis. JWH133 inhibited Reactive Oxygen Species elicited by excess VLCFAs in primary microglial cultures of Abcd1-null mice. Furthermore, we uncovered intertwined redox and CB2r signaling in the murine spinal cords and in patient PBMC samples obtained from a phase II clinical trial with antioxidants (NCT01495260). These findings highlight CB2r signaling as a potential therapeutic target for X-ALD and perhaps other neurodegenerative disorders that present with dysregulated redox and lipid homeostasis.


Asunto(s)
Adrenoleucodistrofia , Miembro 1 de la Subfamilia D de Transportador de Casetes de Unión al ATP , Adrenoleucodistrofia/tratamiento farmacológico , Animales , Ensayos Clínicos Fase II como Asunto , Endocannabinoides/uso terapéutico , Glucógeno Sintasa Quinasa 3 beta/metabolismo , Leucocitos Mononucleares/metabolismo , Ratones , Factor 2 Relacionado con NF-E2/metabolismo , Receptores de Cannabinoides/metabolismo , Receptores de Cannabinoides/uso terapéutico
6.
Eur J Neurol ; 29(2): 505-514, 2022 02.
Artículo en Inglés | MEDLINE | ID: mdl-34687120

RESUMEN

BACKGROUND AND PURPOSE: Difficulties in emotion processing and social cognition identified in multiple sclerosis (MS) patients have a potential impact on their adaptation to the social environment. We aimed to explore the neural correlates of emotion recognition in MS and possible differences between relapsing-remitting MS (RRMS) and secondary progressive MS (SPMS) patients by the Reading the Mind in the Eyes test (RMEt). METHODS: A total of 43 MS patients (27 RRMS, 16 SPMS) and 25 matched healthy controls (HC) underwent clinical assessments, RMEt, and a high-resolution T1-weighted 3-T magnetic resonance imaging (MRI) scan. The number of correct answers on the RMEt was compared between groups. T1-weighted volumes were processed according to an optimized voxel-based morphometry (VBM) protocol to obtain gray matter (GM) maps. Voxelwise analyses were run to assess potential associations between RMEt performance and regional GM volumes. RESULTS: Taken altogether, MS patients reported significantly lower performance on the RMEt compared to HC. When dividing the patients into those with RRMS and those with SPMS, only the latter group was found to perform significantly worse than HC on the RMEt. VBM analysis revealed significant association between RMEt scores and GM volumes in several cortical (temporoparieto-occipital cortex) and subcortical (hippocampus, parahippocampus, and basal ganglia) brain regions, and in the cerebellum in SPMS patients only. CONCLUSIONS: Results suggest that, in addition to other clinical differences between RRMS and SPMS, the ability to recognize others' emotional states may be affected in SPMS more significantly than RRMS patients. This is supported by both behavioral and MRI data.


Asunto(s)
Esclerosis Múltiple Crónica Progresiva , Esclerosis Múltiple Recurrente-Remitente , Esclerosis Múltiple , Emociones , Sustancia Gris/diagnóstico por imagen , Sustancia Gris/patología , Humanos , Imagen por Resonancia Magnética/métodos , Esclerosis Múltiple/complicaciones , Esclerosis Múltiple Crónica Progresiva/complicaciones , Esclerosis Múltiple Recurrente-Remitente/complicaciones
7.
Brain ; 144(9): 2659-2669, 2021 10 22.
Artículo en Inglés | MEDLINE | ID: mdl-34415322

RESUMEN

Phosphoinositides are lipids that play a critical role in processes such as cellular signalling, ion channel activity and membrane trafficking. When mutated, several genes that encode proteins that participate in the metabolism of these lipids give rise to neurological or developmental phenotypes. PI4KA is a phosphoinositide kinase that is highly expressed in the brain and is essential for life. Here we used whole exome or genome sequencing to identify 10 unrelated patients harbouring biallelic variants in PI4KA that caused a spectrum of conditions ranging from severe global neurodevelopmental delay with hypomyelination and developmental brain abnormalities to pure spastic paraplegia. Some patients presented immunological deficits or genito-urinary abnormalities. Functional analyses by western blotting and immunofluorescence showed decreased PI4KA levels in the patients' fibroblasts. Immunofluorescence and targeted lipidomics indicated that PI4KA activity was diminished in fibroblasts and peripheral blood mononuclear cells. In conclusion, we report a novel severe metabolic disorder caused by PI4KA malfunction, highlighting the importance of phosphoinositide signalling in human brain development and the myelin sheath.


Asunto(s)
Alelos , Variación Genética/genética , Enfermedades Desmielinizantes del Sistema Nervioso Central Hereditarias/genética , Antígenos de Histocompatibilidad Menor/genética , Trastornos del Neurodesarrollo/genética , Fosfotransferasas (Aceptor de Grupo Alcohol)/genética , Adolescente , Adulto , Niño , Preescolar , Femenino , Enfermedades Desmielinizantes del Sistema Nervioso Central Hereditarias/diagnóstico por imagen , Humanos , Lactante , Recién Nacido , Leucocitos Mononucleares/fisiología , Masculino , Trastornos del Neurodesarrollo/diagnóstico por imagen , Linaje
8.
Neurol Sci ; 43(7): 4221-4229, 2022 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-35244829

RESUMEN

INTRODUCTION: Dementia with Lewy bodies (DLB) may represent a diagnostic challenge, since its clinical picture overlaps with other dementia. Two toolkits have been developed to aid the clinician to diagnose DLB: the Lewy Body Composite Risk Score (LBCRS) and the Assessment Toolkit for DLB (AT-DLB). We aim to evaluate the reliability of these two questionnaires, and their ability to enhance the interpretation of the international consensus diagnostic criteria. METHODS: LBCRS and AT-DLB were distributed to 135 Italian Neurological Centers for Cognitive Decline and Dementia (CDCDs), with the indication to administer them to all patients with dementia referred within the subsequent 3 months. We asked to subsequently apply consensus criteria for DLB diagnosis, to validate the diagnostic accuracy of the two toolkits. RESULTS: A total of 23 Centers joined the study; 1854 patients were enrolled. We found a prevalence of possible or probable DLB of 13% each (26% total), according to the consensus criteria. LBCRS toolkit showed good reliability, with a Cronbach alpha of 0.77, stable even after removing variables from the construct. AT-DLB toolkit Cronbach alpha was 0.52 and, after the subtraction of the "cognitive fluctuation" criterion, was only 0.31. Accuracy, sensitivity, and specificity were higher for LBCRS vs. AT-DLB. However, when simultaneously considered in the logistic models, AT-DLB showed a better performance (p < 0.001). Overall, the concordance between LBCRS positive and AT-DLB possible/probable was of 78.02% CONCLUSIONS: In a clinical setting, the LBCRS and AT-DLB questionnaires have good accuracy for DLB diagnosis.


Asunto(s)
Enfermedad de Alzheimer , Enfermedad por Cuerpos de Lewy , Enfermedad de Alzheimer/diagnóstico , Diagnóstico Diferencial , Humanos , Italia , Enfermedad por Cuerpos de Lewy/diagnóstico , Reproducibilidad de los Resultados
9.
BMC Public Health ; 22(1): 552, 2022 03 21.
Artículo en Inglés | MEDLINE | ID: mdl-35313832

RESUMEN

BACKGROUND: There are many studies that address the issue of gender-based violence, but few analyse the police-reported cases. It is as important to analyse the temporal and geographic distribution of these incidents as it is the sociodemographic profile of the accuser. To this effect, the present study aims to analyse the sociodemographic profile of the victims of the particular case of domestic violence that report the incident to the police and to evaluate the spatial-temporal distribution of these reports. METHODS: Using the data from a database containing the police-reported incidents of domestic violence in Girona in the period 2012-2018, the risk of a police-reported incident was estimated by adjusting the two-part Hurdle model. RESULTS: The risk of reporting incidents of domestic violence to the police is higher in the less deprived areas of the city, and the spatial distribution of these police reports corroborate this finding. Nevertheless, those areas with the greatest socio-economic deprivation were also the ones where there were less police reports filed. Also the prediction of less police reports in the census tract with the highest percentage of the population with an insufficient educational level coincides with the largest number of police reports made by women with a medium and university level education (56.1%) compared with 9.5% of police reports made by women with insufficient schooling. CONCLUSIONS: These results can be useful for social protection services to design policies specifically aimed at women residing in those areas with the highest risk. Moreover, the use of spatial statistical techniques together with geographic information systems tools is a good strategy to analyse domestic violence and other types of offences because they not only allow to graphically identify the spatial distribution, but it is also a good tool to identify problems related to this type of offence.


Asunto(s)
Violencia Doméstica , Policia , Femenino , Humanos , Política Pública , Servicio Social , España/epidemiología
10.
BMC Public Health ; 22(1): 1888, 2022 10 11.
Artículo en Inglés | MEDLINE | ID: mdl-36221078

RESUMEN

BACKGROUND: Sexual harassment is a type of coercion, including social pressure, intimidation, physical force, and verbal acts, in addition to other forms such as cyber-harassment, recognized as a major important public health problem. METHODS: This cross-sectional study, based on a survey administered online to men and women aged 18 to 35 years and living in Spain throughout 15th and 28th October 2020, aims to analyze the prevalence and factors associated with sexual harassment among young people in Spain within the last 12 months, particularly according to the COVID-19 lockdown period. It has been conducted by bivariate analysis and robust Poisson regression models. The final sample includes 2.515 participants. RESULTS: The results indicate that women were almost twice as likely as men to experience sexual harassment (49% vs 22.2%). Also, among heterosexual men and women, the estimated prevalence was lower concerning that observed among bisexuals, gays, and lesbians (31.5% vs 53, 39.2, and 34.6% respectively). The prevalence percentage in the 18-24 age group was twice high as that observed in the 30-35 age group. Finally, during the lockdown period, the harassment through electronic channels increased (32.6% vs 16.5 and 17.8% before and after this period, respectively) and decreased on public roads (22.9% vs 63.4 and 54.4% pre-lockdown and post-lockdown periods, respectively). CONCLUSION: These findings highlight that sexual harassment presents a high prevalence among young people, especially cyber-harassment, and workplace harassment and it is important to be aware that young women are more likely to suffer harassment and even more if they do not have a partner or have LGB orientation. During the lockdown sexual harassment has moved from public spaces to the social network.


Asunto(s)
COVID-19 , Acoso Sexual , Adolescente , Adulto , COVID-19/epidemiología , Control de Enfermedades Transmisibles , Estudios Transversales , Femenino , Humanos , Masculino , Prevalencia , España/epidemiología , Encuestas y Cuestionarios , Adulto Joven
11.
J Clin Immunol ; 41(5): 914-922, 2021 07.
Artículo en Inglés | MEDLINE | ID: mdl-33851338

RESUMEN

BACKGROUND: In a recent study, autoantibodies neutralizing type I interferons (IFNs) were present in at least 10% of cases of critical COVID-19 pneumonia. These autoantibodies neutralized most type I IFNs but rarely IFN-beta. OBJECTIVES: We aimed to define the prevalence of autoantibodies neutralizing type I IFN in a cohort of patients with severe COVID-19 pneumonia treated with IFN-beta-1b during hospitalization and to analyze their impact on various clinical variables and outcomes. METHODS: We analyzed stored serum/plasma samples and clinical data of COVID-19 patients treated subcutaneously with IFN-beta-1b from March to May 2020, at the Infanta Leonor University Hospital in Madrid, Spain. RESULTS: The cohort comprised 47 COVID-19 patients with severe pneumonia, 16 of whom (34%) had a critical progression requiring ICU admission. The median age was 71 years, with 28 men (58.6%). Type I IFN-alpha- and omega-neutralizing autoantibodies were found in 5 of 47 patients with severe pneumonia or critical disease (10.6%), while they were not found in any of the 118 asymptomatic controls (p = 0.0016). The autoantibodies did not neutralize IFN-beta. No demographic, comorbidity, or clinical differences were seen between individuals with or without autoantibodies. We found a significant correlation between the presence of neutralizing autoantibodies and higher C-reactive protein levels (p = 5.10e-03) and lower lymphocyte counts (p = 1.80e-02). No significant association with response to IFN-beta-1b therapy (p = 0.34) was found. Survival analysis suggested that neutralizing autoantibodies may increase the risk of death (4/5, 80% vs 12/42, 28.5%). CONCLUSION: Autoantibodies neutralizing type I IFN underlie severe/critical COVID-19 stages in at least 10% of cases, correlate with increased C-RP and lower lymphocyte counts, and confer a trend towards increased risk of death. Subcutaneous IFN-beta treatment of hospitalized patients did not seem to improve clinical outcome. Studies of earlier, ambulatory IFN-beta treatment are warranted.


Asunto(s)
Anticuerpos Neutralizantes/sangre , Autoanticuerpos/sangre , COVID-19/inmunología , Interferón Tipo I/inmunología , SARS-CoV-2/inmunología , Adulto , Anciano , Anciano de 80 o más Años , Proteína C-Reactiva/análisis , Femenino , Hospitalización , Humanos , Masculino , Persona de Mediana Edad
12.
Medicina (Kaunas) ; 57(1)2021 Jan 14.
Artículo en Inglés | MEDLINE | ID: mdl-33466577

RESUMEN

Background and Objectives: Hazelnuts are frequently involved in IgE-mediated reactions and represent the main culprit of nut allergy in Europe. The clinical presentation varies from mild symptoms limited to the oropharynx [oral allergy syndrome (OAS)], due to the cross-reaction with homologues in pollen allergens and more severe events caused by the primary sensitization to highly stable molecules contained in hazelnuts. The aim of this review is to summarize the most relevant concepts in the field of hazelnut allergy and to provide a practical approach useful in the clinical practice Materials and Methods: References were identified by PubMed searches dating from January 2000 up to November 2020 using the search terms: "component resolved diagnosis" and "Hazelnut allergy. Results: The storage proteins Cor a 9 and Cor a 14 resulted highly specific for primary hazelnut allergy and strongly associated with severe reactions, while the cross reactive Cor a 1, an homolog of the birch Bet v1, were related to OAS. Any cut-off has shown a specificity and sensitivity pattern as high as to replace the oral food challenge (OFC), which still remains the gold standard in the diagnosis of hazelnut allergy. To date there is still no definitive treatment. Hazelnut free-diet and treatment of symptoms with emergency management, including the prescription of auto-injective epinephrine, still represent the main approach. Oral allergen immunotherapy (AIT) appears a promising therapeutic strategy and the definition of individual clinical threshold would be useful for sensitized individuals, caregivers, and physicians to reduce social limitation, anxiety, and better manage food allergy. Conclusions: An accurate diagnostic work-up including clinical history, in vivo and in vitro test including component resolved diagnosis and OFC are essential to confirm the diagnosis, to assess the risk of a severe reaction, and to prescribe an adequate diet and treatment.


Asunto(s)
Corylus , Hipersensibilidad a los Alimentos , Europa (Continente) , Hipersensibilidad a los Alimentos/diagnóstico , Hipersensibilidad a los Alimentos/epidemiología , Hipersensibilidad a los Alimentos/terapia , Humanos , Inmunoglobulina E , Proteínas de Plantas , Polen
13.
Clin Genet ; 98(1): 91-98, 2020 07.
Artículo en Inglés | MEDLINE | ID: mdl-32335897

RESUMEN

Pathogenic variants in HNRNPH1 were first reported in 2018. The reported individual, a 13 year old boy with a c.616C>T (p.R206W) variant in the HNRNPH1 gene, was noted to have overlapping symptoms with those observed in HNRNPH2-related X-linked intellectual disability, Bain type (MRXSB), specifically intellectual disability and dysmorphic features. While HNRNPH1 variants were initially proposed to represent an autosomal cause of MRXSB, we report an additional seven cases which identify phenotypic differences from MRXSB. Patients with HNRNPH1 pathogenic variants diagnosed via WES were identified using clinical networks and GeneMatcher. Features unique to individuals with HNRNPH1 variants include distinctive dysmorphic facial features; an increased incidence of congenital anomalies including cranial and brain abnormalities, genitourinary malformations, and palate abnormalities; increased incidence of ophthalmologic abnormalities; and a decreased incidence of epilepsy and cardiac defects compared to those with MRXSB. This suggests that pathogenic variants in HNRNPH1 result in a related, but distinct syndromic cause of intellectual disability from MRXSB, which we refer to as HNRNPH1-related syndromic intellectual disability.


Asunto(s)
Ribonucleoproteínas Nucleares Heterogéneas/genética , Discapacidad Intelectual/genética , Trastornos del Neurodesarrollo/genética , Adolescente , Adulto , Niño , Preescolar , Epilepsia/genética , Femenino , Genes Ligados a X/genética , Humanos , Lactante , Recién Nacido , Masculino , Fenotipo , Síndrome , Adulto Joven
14.
BMC Public Health ; 20(1): 1493, 2020 Oct 01.
Artículo en Inglés | MEDLINE | ID: mdl-33004010

RESUMEN

An amendment to this paper has been published and can be accessed via the original article.

15.
BMC Public Health ; 20(1): 1306, 2020 Aug 27.
Artículo en Inglés | MEDLINE | ID: mdl-32854670

RESUMEN

BACKGROUND: Previous studies have focused on the relationship between employment pathways and health-related outcomes based on cross-sectional or longitudinal approaches. However, little is known about the cumulative effects of employment status mobility on sickness absence (SA) over time. The aim of the present study was to examine the association between prior labour market participation (LMP) patterns and SA trajectories from a life-course perspective. METHODS: This cohort study was based on a sample of 11,968 salaried workers living in Catalonia and affiliated with the Spanish Social Security system, who accumulated more than 15 days on SA in at least one quarter during 2012-2014. Individuals were grouped into three different working life stages: early (18-25 years), middle (26-35 years), and late (36-45 years). To identify LMP patterns, we applied sequence analysis and cluster analysis (2002-2011), and we used latent class growth modelling to identify SA trajectories (2012-2014). Finally, we applied multinomial logistic regression models to assess the relationship between LMP patterns and SA trajectories. RESULTS: The analyses yielded six LMP patterns: stable employment (value range: 63-81%), increasing employment (5-22%), without long-term coverage (7-8%), decreasing employment (4-10%), fluctuant employment (13-14%), and steeply decreasing employment (7-9%). We also identified four SA trajectories: low stable (83-88%), decreasing (5-9%), increasing (5-11%), and high stable (7-16%). However, the only significant association we identified for LMP patterns and SA trajectories was among young men, for whom an increasing employment pattern was significantly associated with a lower risk for increased days on SA (adjusted odds ratio: 0.21; 95% confidence interval: 0.05-0.96). CONCLUSIONS: SA trajectories are generally not related to prior 10-year LMP patterns at any stage of working life. To disentangle this relationship, future research might benefit from considering working life transitions with a quality-of-work approach framed with contextual factors closer to the SA course.


Asunto(s)
Empleo/tendencias , Ausencia por Enfermedad/tendencias , Desempleo/tendencias , Adolescente , Adulto , Estudios de Cohortes , Empleo/clasificación , Femenino , Humanos , Renta , Masculino , Persona de Mediana Edad , Seguridad Social , España/epidemiología , Desempleo/clasificación , Recursos Humanos , Adulto Joven
16.
Mult Scler ; 25(9): 1223-1231, 2019 08.
Artículo en Inglés | MEDLINE | ID: mdl-30084711

RESUMEN

BACKGROUND: The importance of predicting disease progression in multiple sclerosis (MS) has increasingly been recognized, and hence reliable biomarkers are needed. OBJECTIVES: To investigate the prognostic role of cerebrospinal fluid (CSF) amyloid beta1-42 (Aß) levels by the determination of a cut-off value to classify patients in slow and fast progressors. To evaluate possible association with white matter (WM) and grey matter (GM) damage at early disease stages. METHODS: Sixty patients were recruited and followed up for 3-5 years. Patients underwent clinical assessment, brain magnetic resonance imaging (MRI; at baseline and after 1 year), and CSF analysis to determine Aß levels. T1-weighted volumes were calculated. T2-weighted scans were used to quantify WM lesion loads. RESULTS: Lower CSF Aß levels were observed in patients with a worse follow-up Expanded Disability Status Scale (EDSS; r = -0.65, p < 0.001). The multiple regression analysis confirmed CSF Aß concentration as a predictor of patients' EDSS increase (r = -0.59, p < 0.0001). Generating a receiver operating characteristic curve, a cut-off value of 813 pg/mL was determined as the threshold able to identify patients with worse prognosis (95% confidence interval (CI): 0.690-0.933, p = 0.0001). No differences in CSF tau and neurofilament light chain (NfL) levels were observed (p > 0.05). CONCLUSION: Low CSF Aß levels may represent a predictive biomarker of disease progression in MS.


Asunto(s)
Péptidos beta-Amiloides/líquido cefalorraquídeo , Progresión de la Enfermedad , Esclerosis Múltiple/líquido cefalorraquídeo , Esclerosis Múltiple/diagnóstico por imagen , Fragmentos de Péptidos/líquido cefalorraquídeo , Sustancia Blanca/diagnóstico por imagen , Adulto , Biomarcadores/líquido cefalorraquídeo , Femenino , Estudios de Seguimiento , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Pronóstico
17.
Neurocase ; 25(1-2): 1-9, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-30931814

RESUMEN

Thalamo-cortical connectivity was characterised in a patient with bilateral infarct of the thalami, without evidence of cognitive deficits in everyday life. Patient underwent social and emotional tests, Iowa Gambling Task (IGT), with and without concomitant heart rate variability (HRV) recording and at 3T-MRI to assess thalamo-cortical connectivity. Patient showed impairment at the IGT, in somatic marker, in emotions and theory of mind. MRI documented a bilateral damage of the centromedian-parafascicular complex. Patient's thalamic lesions disconnected brain areas involved in decision-making and autonomic regulation, affecting the somatic marker and resulting in the neuropsychological deficit exhibited by L.C.


Asunto(s)
Sistema Nervioso Autónomo/fisiopatología , Infarto Encefálico , Toma de Decisiones/fisiología , Núcleos Talámicos Intralaminares , Corteza Prefrontal , Percepción Social , Adulto , Infarto Encefálico/patología , Infarto Encefálico/fisiopatología , Humanos , Núcleos Talámicos Intralaminares/patología , Núcleos Talámicos Intralaminares/fisiopatología , Imagen por Resonancia Magnética , Masculino , Corteza Prefrontal/patología , Corteza Prefrontal/fisiopatología
18.
Occup Environ Med ; 76(4): 236-242, 2019 04.
Artículo en Inglés | MEDLINE | ID: mdl-30674607

RESUMEN

OBJECTIVES: To assess the relationship between exposure to occupational risk factors during pregnancy and absence from work using two different social benefits. METHOD: Three working pregnancy trajectories (WPT) were identified in a cohort of 428 pregnant workers from a healthcare institution (period 2010-2014), based on absence days and using cluster analysis. WPT1 included absences mainly covered by sickness absence benefit (32.0% of women), WPT2 included absences covered by pregnancy occupational risk (POR) benefit (28.3%) and WPT3 were pregnant workers with few absences (39.9%). Exposure to occupational risk factors was assessed by experts and association with trajectories was analysed using logistic regression. Relative risks (RR) and their 95% CIs were adjusted for age, type of contract and shift work. RESULTS: WPT2 was associated with exposure to physical (RR=1.86, 95%CI 1.17 to 2.97), safety (RR=2.10, 95%CI 1.61 to 2.73), ergonomic (RR=2.52, 95%CI 1.89 to 3.36) and psychosocial (RR=1.79, 95%CI 1.31 to 2.46) factors, and with exposure level. For physicians, WPT1 was associated with safety risks (RR=3.13, 95%CI 1.22 to 7.99), WPT2 with chemical and ergonomic for administrative/technical support (RR=12.20, 95%CI 1.69 to 88.09; RR=14.09, 95%CI 1.34 to 148.61, respectively), with safety and ergonomic risks for nursing aides (RR=1.84, 95%CI 1.12 to 3.02; RR=3.94, 95% CI 2.38 to 6.53, respectively), and with physical (RR=1.72, 95%CI 1.04 to 2.86), safety (RR=2.21, 95%CI 1.62 to 3.03), ergonomic (RR=2.02, 95%CI 1.44 to 2.86) and psychosocial factors (RR=1.96, 95%CI 1.32 to 2.90) for nurses. CONCLUSIONS: Absences from work covered by POR benefit show a consistent relationship with exposure to occupational risks. Sickness absence is the most frequent benefit used by pregnant workers. Current social benefits are apparently used adequately for protecting women from occupational exposures. Future studies are needed to clarify this further.


Asunto(s)
Absentismo , Empleo/normas , Personal de Salud/psicología , Adulto , Estudios de Cohortes , Empleo/métodos , Empleo/estadística & datos numéricos , Ergonomía , Femenino , Personal de Salud/estadística & datos numéricos , Humanos , Modelos Logísticos , Persona de Mediana Edad , Embarazo , Estudios Retrospectivos , Factores de Riesgo , Encuestas y Cuestionarios , Mujeres Trabajadoras/estadística & datos numéricos
19.
Medicina (Kaunas) ; 55(8)2019 Aug 18.
Artículo en Inglés | MEDLINE | ID: mdl-31426616

RESUMEN

Component-resolved diagnostics (CRD) in food allergies is an approach utilized to characterize the molecular components of each allergen involved in a specific IgE (sIgE)-mediated response. In the clinical practice, CRD can improve diagnostic accuracy and assist the physician in many aspects of the allergy work-up. CRD allows for discriminatory co-sensitization versus cross-sensitization phenomena and can be useful to stratify the clinical risk associated with a specific sensitization pattern, in addition to the oral food challenge (OFC). Despite this, there are still some unmet needs, such as the risk of over-prescribing unnecessary elimination diets and adrenaline auto-injectors. Moreover, up until now, none of the identified sIgE cutoff have shown a specificity and sensitivity profile as accurate as the OFC, which is the gold standard in diagnosing food allergies. In light of this, the aim of this review is to summarize the most relevant concepts in the field of CRD in food allergy and to provide a practical approach useful in clinical practice.


Asunto(s)
Alérgenos , Hipersensibilidad a los Alimentos/diagnóstico , Alérgenos/análisis , Alérgenos/inmunología , Hipersensibilidad a los Alimentos/inmunología , Humanos , Inmunoglobulina E/sangre , Sensibilidad y Especificidad , Pruebas Cutáneas
20.
Neuroimage ; 169: 302-311, 2018 04 01.
Artículo en Inglés | MEDLINE | ID: mdl-29277405

RESUMEN

Memory loss is one of the first symptoms of typical Alzheimer's disease (AD), for which there are no effective therapies available. The precuneus (PC) has been recently emphasized as a key area for the memory impairment observed in early AD, likely due to disconnection mechanisms within large-scale networks such as the default mode network (DMN). Using a multimodal approach we investigated in a two-week, randomized, sham-controlled, double-blinded trial the effects of high-frequency repetitive transcranial magnetic stimulation (rTMS) of the PC on cognition, as measured by the Alzheimer Disease Cooperative Study Preclinical Alzheimer Cognitive Composite in 14 patients with early AD (7 females). TMS combined with electroencephalography (TMS-EEG) was used to detect changes in brain connectivity. We found that rTMS of the PC induced a selective improvement in episodic memory, but not in other cognitive domains. Analysis of TMS-EEG signal revealed an increase of neural activity in patients' PC, an enhancement of brain oscillations in the beta band and a modification of functional connections between the PC and medial frontal areas within the DMN. Our findings show that high-frequency rTMS of the PC is a promising, non-invasive treatment for memory dysfunction in patients at early stages of AD. This clinical improvement is accompanied by modulation of brain connectivity, consistently with the pathophysiological model of brain disconnection in AD.


Asunto(s)
Enfermedad de Alzheimer/fisiopatología , Ritmo beta/fisiología , Neuroimagen Funcional/métodos , Trastornos de la Memoria/fisiopatología , Memoria Episódica , Lóbulo Parietal/fisiopatología , Síntomas Prodrómicos , Estimulación Magnética Transcraneal/métodos , Anciano , Femenino , Humanos , Masculino
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