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Background: Recently, subjective cognitive decline (SCD) was proposed as an early risk factor for future Alzheimer's disease (AD). Objective: In this study, we investigated whether accelerated long-term forgetting (ALF), assessed with extended testing intervals than those adopted in clinical practice, might be a cognitive feature of SCD. Using an explorative MRI analysis of the SCD sample, we attempted to investigate the areas most likely involved in the ALF pattern. Methods: We recruited 31 individuals with SCD from our memory clinic and subdivided them based on their rate of memory complaints into mild SCDs (nâ=â18) and severe SCDs (nâ=â13). A long-term forgetting procedure, involving the recall of verbal and visuo-spatial material at four testing delays (i.e., immediate, 30âmin, 24âh, and 7 days post-encoding) was used to compare the two sub-groups of SCDs with a healthy control group (HC; nâ=â16). Results: No significant between-group difference was found on the standard neuropsychological tests, nor in the immediate and 30âmin recall of the experimental procedure. By contrast, on the verbal test severe SCDs forgot significantly more than HCs in the prolonged intervals (i.e., 24âh and 7 days), with the greatest decline between 30âmin and 24âh. Finally, in the whole SCD sample, we found significant associations between functional connectivity values within some cortical networks involved in memory (default mode network, salience network, and fronto-parietal network) and verbal long-term measures. Conclusions: Our preliminary findings suggest that long-term forgetting procedures could be a sensitive neuropsychological tool for detecting memory concerns in SCDs, contributing to early AD detection.
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Disfunción Cognitiva , Imagen por Resonancia Magnética , Trastornos de la Memoria , Pruebas Neuropsicológicas , Humanos , Masculino , Femenino , Disfunción Cognitiva/psicología , Disfunción Cognitiva/diagnóstico por imagen , Anciano , Trastornos de la Memoria/psicología , Persona de Mediana Edad , Recuerdo Mental/fisiología , Encéfalo/diagnóstico por imagenRESUMEN
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.
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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 CuestionariosRESUMEN
We report on genetic and environmental modulation of social cognition abilities and brain volume correlates in two monozygotic twins (Twin1 and Twin2) with genetically confirmed myotonic dystrophy-type1 who grew up in different environmental settings. They both underwent neuropsychological assessment (i.e., Intelligent Quotient [IQ], theory of mind, emotion recognition tests), and MRI scanning to evaluate regional brain volumetrics compared to 10 gender and sex-matched healthy controls. Against a normal IQ level in both patients, Twin1 was more impaired in emotional processing and Twin2 in cognitive aspects of social cognition. Both patients showed grey matter (GM) atrophy in Brodmann Areas 23/31 (BA23/31) and BA7 bilaterally, while Twin2 showed additional GM loss in right BA46. Both patients showed a similar pattern of white matter atrophy involving the thalamus, basal ganglia, and uncinate fasciculus. White matter atrophy appeared to be mostly driven by genetics, while grey matter volumes appeared associated with different impairments in social cognition and possibly modulated by environment.
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Encéfalo , Imagen por Resonancia Magnética , Distrofia Miotónica , Pruebas Neuropsicológicas , Fenotipo , Gemelos Monocigóticos , Humanos , Distrofia Miotónica/genética , Distrofia Miotónica/patología , Distrofia Miotónica/diagnóstico por imagen , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Masculino , Femenino , Adulto , Atrofia/patología , Sustancia Gris/patología , Sustancia Gris/diagnóstico por imagen , Persona de Mediana Edad , Sustancia Blanca/diagnóstico por imagen , Sustancia Blanca/patología , Cognición SocialRESUMEN
Un año más, mediante esta nota editorial, damos cuenta de las estadísticas y los principales avances de nuestra revista. En cuanto a las estadísticas editoriales, que se detallan en los apartados posteriores, podemos afirmar que son las de una revista consolidada: flujo nutrido y constante de trabajos recibidos/publicados, tasas de aceptación y rechazo proporcionadas, tiempos de gestión razonables y diversidad en las autorías. El logro más destacable del 2023 fue superar con éxito el proceso de evaluación de la Octava edición de Evaluación de la calidad editorial y científica de las revistas científicas españolas, comúnmente conocido como 'Sello FECYT' .
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Publicaciones Periódicas como Asunto , Publicaciones Periódicas como Asunto/normas , España , Edición/normasRESUMEN
Evidence in the literature indicates that aerobic physical activity may have a protective role in aging pathologies. However, it has not been clarified whether different types of aerobic exercise produce different effects. In particular, these potential differences have not been explored in patients with Alzheimer's disease (AD). The present narrative review has the specific aim of evaluating whether land (walking/running) and water (swimming) aerobic activities exert different effects on cognitive functions and neural correlates in AD patients. In particular, the investigation is carried out by comparing the evidence provided from studies on AD animal models and on patients. On the whole, we ascertained that both human and animal studies documented beneficial effects of land and water aerobic exercise on cognition in AD. Also, the modulation of numerous biological processes is documented in association with structural modifications. Remarkably, we found that aerobic activity appears to improve cognition per se, independently from the specific kind of exercise performed. Aerobic exercise promotes brain functioning through the secretion of molecular factors from skeletal muscles and liver. These molecular factors stimulate neuroplasticity, reduce neuroinflammation, and inhibit neurodegenerative processes leading to amyloid-ß accumulation. Additionally, aerobic exercise improves mitochondrial activity, reducing oxidative stress and enhancing ATP production. Aerobic activities protect against AD, but implementing exercise protocols for patients is challenging. We suggest that health policies and specialized institutions should direct increasing attention on aerobic activity as lifestyle modifiable factor for successful aging and age-related conditions.
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Enfermedad de Alzheimer , Animales , Humanos , Enfermedad de Alzheimer/patología , Cognición , Ejercicio Físico/fisiología , Terapia por Ejercicio/métodos , Péptidos beta-AmiloidesRESUMEN
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.
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Literatura Erótica , Sexismo , Humanos , Femenino , Masculino , Adulto Joven , Adolescente , Adulto , España , Conducta Sexual , HeterosexualidadRESUMEN
Un año más, mediante esta nota editorial, damos cuenta de los principales avan-ces de nuestra revista y las estadísticas editoriales.En cuanto a las estadísticas editoriales, que se detallan en los apartados poste-riores, podemos afirmar que son las de una revista consolidada: flujo nutrido y constante de trabajos recibidos/publicados, tasas de aceptación y rechazo pro-porcionadas, tiempos de gestión razonables y diversidad en las autorías.El logro más destacable del 2023 fue superar con éxito el proceso de evaluación de la Octava edición de Evaluación de la calidad editorial y científica de las revistas científicas españolas, comúnmente conocido como Sello FECYT.El Sello de Calidad FECYT (Figura 1) identifica a aquellas publicaciones científicas que cumplen unos requisitos de profesionalización internacionalmente reconoci-dos. Gracias a este distintivo, muchas revistas científicas se han posicionado de manera importante en el ámbito nacional e internacional Este reconocimiento lo otorga la FECYT por un periodo de un año desde la resolu-ción definitiva, y la evaluación para su renovación se realizará de oficio por parte de la Fundación una vez finalizado dicho periodo (AU)
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Humanos , Publicaciones Periódicas como Asunto , Políticas Editoriales , Control de CalidadRESUMEN
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: 0.00â0.16; aRRR 0.17, 95% CI: 0.06â0.46, respectively) and, among women, a lower probability of permanent disability and death (aRRR 0.24, 95% CI: 0.10â0.57; aRRR 0.39, 95% CI: 0.19â0.83, 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: 0.22â1.65; men, aRRR 0.64, 95% CI: 0.27â1.52), 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.
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Empleo , Neoplasias , Humanos , Masculino , Femenino , Estudios de Cohortes , España/epidemiología , Estudios Retrospectivos , Ocupaciones , Neoplasias/epidemiología , Ausencia por EnfermedadRESUMEN
BACKGROUND: Whole-exome sequencing (WES) and whole-genome sequencing (WGS) have become indispensable tools to solve rare Mendelian genetic conditions. Nevertheless, there is still an urgent need for sensitive, fast algorithms to maximise WES/WGS diagnostic yield in rare disease patients. Most tools devoted to this aim take advantage of patient phenotype information for prioritization of genomic data, although are often limited by incomplete gene-phenotype knowledge stored in biomedical databases and a lack of proper benchmarking on real-world patient cohorts. METHODS: We developed ClinPrior, a novel method for the analysis of WES/WGS data that ranks candidate causal variants based on the patient's standardized phenotypic features (in Human Phenotype Ontology (HPO) terms). The algorithm propagates the data through an interactome network-based prioritization approach. This algorithm was thoroughly benchmarked using a synthetic patient cohort and was subsequently tested on a heterogeneous prospective, real-world series of 135 families affected by hereditary spastic paraplegia (HSP) and/or cerebellar ataxia (CA). RESULTS: ClinPrior successfully identified causative variants achieving a final positive diagnostic yield of 70% in our real-world cohort. This includes 10 novel candidate genes not previously associated with disease, 7 of which were functionally validated within this project. We used the knowledge generated by ClinPrior to create a specific interactome for HSP/CA disorders thus enabling future diagnoses as well as the discovery of novel disease genes. CONCLUSIONS: ClinPrior is an algorithm that uses standardized phenotype information and interactome data to improve clinical genomic diagnosis. It helps in identifying atypical cases and efficiently predicts novel disease-causing genes. This leads to increasing diagnostic yield, shortening of the diagnostic Odysseys and advancing our understanding of human illnesses.
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Algoritmos , Genómica , Humanos , Estudios Prospectivos , Bases de Datos Factuales , Estudios de Asociación GenéticaRESUMEN
BACKGROUND: Alzheimer's disease (AD) is the most common form of dementia worldwide. Currently there are no disease modifying treatments available. Detecting subjects with increased risk to develop dementia is essential for future clinical trials. Subjective cognitive decline (SCD) is a condition defining individuals who perceive a decrease in their own cognitive functioning in the absence of any detectable deficit on neuropsychological testing. SCD individuals show AD-related biomarkers abnormalities in cerebrospinal fluid. OBJECTIVE: The aim of the present study was to assess brain functional connectivity (FC) changes in SCD individuals. METHODS: 23 SCD and 33 healthy subjects (HS) underwent an extensive neuropsychological assessment and 3T-MRI scanning including a T1-w volume and resting-state fMRI (RS-fMRI) to assess brain atrophy and brain FC. RESULTS: No between-group differences in grey matter volumes were detected. SCD subjects compared to HS showed both increased and decreased FC in the executive and parietal networks. Associations between cognitive measures, mainly assessing working memory, and FC within brain networks were found both in SCD and HS separately. CONCLUSIONS: SCD individuals showed FC abnormalities in networks involving fronto-parietal areas that may account for their lower visuo-spatial working memory performances. Dysfunctions in executive-frontal networks may be responsible for the cognitive decline subjectively experienced by SCD individuals despite the normal scores observed by formal neuropsychological assessment. The present study contributes to consider SCD individuals in an early AD stage with an increased risk of developing the disease in the long term.
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The Rad50 interacting protein 1 (Rint1) is a key player in vesicular trafficking between the ER and Golgi apparatus. Biallelic variants in RINT1 cause infantile-onset episodic acute liver failure (ALF). Here, we describe 3 individuals from 2 unrelated families with novel biallelic RINT1 loss-of-function variants who presented with early onset spastic paraplegia, ataxia, optic nerve hypoplasia, and dysmorphic features, broadening the previously described phenotype. Our functional and lipidomic analyses provided evidence that pathogenic RINT1 variants induce defective lipid-droplet biogenesis and profound lipid abnormalities in fibroblasts and plasma that impact both neutral lipid and phospholipid metabolism, including decreased triglycerides and diglycerides, phosphatidylcholine/phosphatidylserine ratios, and inhibited Lands cycle. Further, RINT1 mutations induced intracellular ROS production and reduced ATP synthesis, affecting mitochondria with membrane depolarization, aberrant cristae ultrastructure, and increased fission. Altogether, our results highlighted the pivotal role of RINT1 in lipid metabolism and mitochondria function, with a profound effect in central nervous system development.
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Paraplejía Espástica Hereditaria , Humanos , Paraplejía Espástica Hereditaria/genética , Paraplejía Espástica Hereditaria/metabolismo , Metabolismo de los Lípidos , Mutación , Aparato de Golgi/metabolismo , Lípidos , Fenotipo , Proteínas de Ciclo Celular/metabolismoRESUMEN
Background: Urinary tract infection (UTI) represents one of the most common infectious diseases and a major cause of antibiotic prescription in children. To prevent recurrent infections and long-term complications, low-dose continuous antibiotic prophylaxis (CAP) has been used. However, the efficacy of CAP is controversial. The aim of this document was to develop updated guidelines on the efficacy and safety of CAP to prevent pediatric UTIs. Methods: A panel of experts on pediatric infectious diseases, pediatric nephrology, pediatric urology, and primary care was asked clinical questions concerning the role of CAP in preventing UTIs in children. Overall, 15 clinical questions were addressed, and the search strategy included accessing electronic databases and a manual search of gray literature published in the last 25 years. After data extraction and narrative synthesis of results, recommendations were developed using the Grading of Recommendations, Assessment, Development, and Evaluations (GRADE) methodology. Results: The use of CAP is not recommended in children with a previous UTI, with recurrent UTIs, with vesicoureteral reflux (VUR) of any grade, with isolated hydronephrosis, and with neurogenic bladder. CAP is suggested in children with significant obstructive uropathies until surgical correction. Close surveillance based on early diagnosis of UTI episodes and prompt antibiotic therapy is proposed for conditions in which CAP is not recommended. Conclusions: Our systematic review shows that CAP plays a limited role in preventing recurrences of UTI in children and has no effect on its complications. On the other hand, the emergence of new antimicrobial resistances is a proven risk.
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Sphingolipids function as membrane constituents and signaling molecules, with crucial roles in human diseases, from neurodevelopmental disorders to cancer, best exemplified in the inborn errors of sphingolipid metabolism in lysosomes. The dihydroceramide desaturase Δ4-dihydroceramide desaturase 1 (DEGS1) acts in the last step of a sector of the sphingolipid pathway, de novo ceramide biosynthesis. Defects in DEGS1 cause the recently described hypomyelinating leukodystrophy-18 (HLD18) (OMIM #618404). Here, we reveal that DEGS1 is a mitochondria-associated endoplasmic reticulum membrane-resident (MAM-resident) enzyme, refining previous reports locating DEGS1 at the endoplasmic reticulum only. Using patient fibroblasts, multiomics, and enzymatic assays, we show that DEGS1 deficiency disrupts the main core functions of the MAM: (a) mitochondrial dynamics, with a hyperfused mitochondrial network associated with decreased activation of dynamin-related protein 1; (b) cholesterol metabolism, with impaired sterol O-acyltransferase activity and decreased cholesteryl esters; (c) phospholipid metabolism, with increased phosphatidic acid and phosphatidylserine and decreased phosphatidylethanolamine; and (d) biogenesis of lipid droplets, with increased size and numbers. Moreover, we detected increased mitochondrial superoxide species production in fibroblasts and mitochondrial respiration impairment in patient muscle biopsy tissues. Our findings shed light on the pathophysiology of HLD18 and broaden our understanding of the role of sphingolipid metabolism in MAM function.
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Oxidorreductasas , Esfingolípidos , Humanos , Retículo Endoplásmico/genética , Retículo Endoplásmico/metabolismo , Mitocondrias/genética , Mitocondrias/metabolismo , Oxidorreductasas/metabolismo , Esfingolípidos/metabolismoRESUMEN
Con este bagaje, comenzamos 2023, un año en el que nuestra revista cumple un cuarto de siglo llevando a cabo la misión para la que fue concebida, misión que los distintos comités editoriales que hemos participado consideramos un acierto: contribuir a la transferencia de conocimiento útil para avanzar en la mejora de la salud de las personas trabajadoras.
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Bibliometría , NeumologíaRESUMEN
Con este bagaje, comenzamos 2023, un año en el que nuestra revista cumple un cuarto de siglo llevando a cabo la misión para la que fue concebida, misión que los distintos comités editoriales que hemos participado consideramos un acierto: contribuir a la transferencia de conocimiento útil para avanzar en la mejora de la salud de las personas trabajadoras (AU)
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Humanos , Indicadores de Producción Científica , Publicaciones Periódicas como Asunto , Factor de Impacto de la Revista , Medicina del Trabajo , EspañaRESUMEN
Prefrontal functions subserve inhibition control for retrieval of semantically related items inducing forgetting 19 a-MCI patients and 29 controls underwent neuropsychological evaluation and retrieval-practice paradigm (RPP) to estimate baseline remember (BR), retrieval-induced facilitation (FAC) and retrieval-induced forgetting (RIF). A-MCI patients underwent also 3 T-MRI to assess relationship between regional grey matter (rGM) volumes and RPP indexes Behaviourally, RIF and FAC were both observed controls, while RIF only was observed in a-MCI patients. In patients but not in controls, RIF was associated with cognitive efficiency and FAC with memory performance. Patients showed also associations between BR and rGM volumes in the precuneus, no association was found between rGM volumes and RIF and FAC. A-MCI patients did not benefit from repeated practice during retrieval of studied items, which is likely due to their memory disorder. In contrast, patient cognitive efficiency would drive retrieval suppression of interfering stimuli.
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Disfunción Cognitiva , Recuerdo Mental , Humanos , Recuerdo Mental/fisiología , Pruebas Neuropsicológicas , Trastornos de la Memoria/etiología , CogniciónRESUMEN
The spatial effect is an element presented in many geostatistical works and it should be incorporated into studies regarding the heating energy demand of residential building stocks. The most common approaches have been made by simple descriptive statistics or using analyses by Markov random fields. In this work, we propose two different methods. First, the Stochastic Partial Differential Equation with the Integrated Nested Laplace Approximation to model the variable heating energy demand in Castellón de la Plana, Spain also considering covariates and the spatial effect. Second, simulated street networks for analysing data. We describe and take advantage of the Bayesian methodology in the modelling process in all the scenarios, including covariates and the possibility of creating a simulated street network with the data for the modelling issue. Our results show that the spatial location of the building is a crucial element to study the heating energy demand using both methodologies.
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Calefacción , Humanos , Teorema de BayesRESUMEN
Introduction: Anaphylaxis is one of the most frequent and misdiagnosed emergencies in the pediatric emergency department (PED). We aimed to assess which factors play a major role for a correct diagnosis and an appropriate therapy. Methods: We reviewed the records of children discharged with a diagnosis of anaphylaxis or an allergic reaction over 11 years from 3 hospitals in the Bologna city area. Results: One hundred and sixteen cases matched the criteria (0.03% of the total admittances) and were divided according to the patients' symptoms at arrival: active acute patients [AP], n = 50, or non-acute patients ([NAP], n = 66). At the patients' discharge, anaphylaxis was diagnosed in 39 patients (33.6%). Some features seemed to favor a correct diagnosis: active symptoms at arrival (AP vs. NAP, p < 0.01), high-priority triage code (p < 0.01), and upper airway involvement (p < 0.01). Only 14 patients (12.1%), all in the AP group, received epinephrine, that was more likely administered to patients recognized to have anaphylaxis (p < 0.01) and with cardiovascular, respiratory, or persistent gastrointestinal symptoms (p < 0.02), as confirmed by logistic regression analysis. Conclusions: Anaphylaxis is still under-recognized and under-treated. Correct triage coding and a proper diagnosis seem to foster an appropriate treatment. Physicians often prefer third-line interventions. Specific training for nurses and physicians might improve the management of this disease.
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In the brain and cognitive reserves framework, aerobic exercise is considered as a protective lifestyle factor able to induce positive effects on both brain structure and function. However, specific aspects of such a beneficial effect still need to be completely clarified. To this aim, the present narrative review focused on the potential brain/cognitive/neural reserve-construction mechanisms triggered by different aerobic exercise types (land activities; such as walking or running; vs. water activities; such as swimming), by considering human and animal studies on healthy subjects over the entire lifespan. The literature search was conducted in PubMed database. The studies analyzed here indicated that all the considered kinds of activities exert a beneficial effect on cognitive/behavioral functions and on the underlying brain neurobiological processes. In particular, the main effects observed involve the cognitive domains of memory and executive functions. These effects appear related to structural and functional changes mainly involving the fronto-hippocampal axis. The present review supports the requirement of further studies that investigate more specifically and systematically the effects of each type of aerobic activity, as a basis to plan more effective and personalized interventions on individuals as well as prevention and healthy promotion policies for the general population.