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Pain and heavy alcohol consumption are prevalent among people living with HIV/AIDS (PLWH), each contributing to impaired functioning and diminished quality of life. Each of these conditions may have negative effects on the HIV care continuum, but less is known about their combined influences. The current study examined how heavy drinking and pain were associated with HIV viral suppression and CD4 cell count among participants receiving antiretroviral therapy (ART). The study sample consisted of 220 PLWH with past 12-month substance dependence or ever injection drug use enrolled in a large HIV cohort study. Logistic regression analyses showed an interaction between pain level (no/mild pain vs moderate/severe) and heavy drinking on viral suppression such that heavy drinking was a significant predictor of poorer viral suppression only for those who experienced moderate/severe pain. We also examined whether ART adherence differentially mediated the association between heavy drinking and HIV viral suppression by level of pain. Although there was a significant indirect effect of heavy drinking on viral suppression among those with moderate/severe pain, moderated mediational analyses did not indicate that the indirect effect of heavy drinking on viral suppression through ART adherence differed significantly by level of pain. Pain level did not significantly moderate the association between heavy drinking and CD4 cell count. We conclude that heavy drinking may be particularly likely to be associated with poorer HIV viral suppression among PLWH with moderate or severe pain. Providers should routinely address comorbid heavy drinking and pain to improve HIV outcomes.
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Infecciones por VIH , Humanos , Infecciones por VIH/complicaciones , Infecciones por VIH/tratamiento farmacológico , Infecciones por VIH/epidemiología , Estudios de Cohortes , Calidad de Vida , Consumo de Bebidas Alcohólicas/epidemiología , Dolor , Cumplimiento de la MedicaciónRESUMEN
OBJECTIVE: This study aimed to identify biochemical, hematological, and endocrinological abnormalities in a sample of children and adolescents with underweight AN and atypical AN and to compare these results between the two groups. METHOD: Based on the 5th BMI-percentile admission, adolescents with underweight AN (n = 520) and atypical AN (n = 255) were included and medical records were reviewed. RESULTS: Low prealbumin (35%) and neutropenia (39%), and several abnormalities in endocrinological parameters (50%) were the most common alterations found in the whole sample. Compared to the atypical AN group, the underweight AN group had significantly higher frequencies of elevated cholesterol (OR = 2.50; p < 0.001) and alanine aminotransferase (OR = 0.22; p = 0.005) and of reduced insulin-like growth (IGF) factor-1 (OR = 0.29; p < 0.001), T3 (OR = 0.46; p < 0.001), luteinizing hormone (OR = 0.24; p < 0.001), follicle stimulating hormone (OR = 0.58; p = 0.004), and 17b-estradiol (OR = 0.39; p < 0.001). However, other blood parameters showed similar alterations in both groups. DISCUSSION: Both groups showed abnormalities in the same blood parameters, but some abnormal parameters were more common in the underweight AN group. These results suggest that atypical AN and underweight AN could present similar risks of certain medical complications.
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INTRODUCTION: Since the advent of HIV pre-exposure prophylaxis (PrEP), stigma has been shown to be a major barrier to its uptake and adherence. It is therefore essential to define the proportion of users who consider that PrEP can negatively impact their image and the factors associated with this perception. METHOD: We performed a multivariable logistic regression on data from the 2567 participants in the ANRS-PREVENIR study who answered the outcome question. RESULTS: Almost one-third of the sample (comprising mostly cisgender men who have sex with men [94.3%]) considered that taking PrEP could give others a negative image of them. Younger participants (adjusted odds ratio [aOR] 0.98; 95% confidence interval [CI] 0.97-0.99) and more psychologically vulnerable participants (i.e., lower self-esteem score [aOR 0.98; 95% CI 0.96-0.99] and higher depression score [aOR 1.02; 95% CI 1.00-1.03]) were also more likely to have this perception. In contrast, participants encouraged to take PrEP by their main partner (aOR 0.67; 95% CI 0.51-0.88) and friends (aOR 0.79; 95% CI 0.66-0.95), and those who protected themselves more because they had knowledge of their most recent sexual partner's HIV status (aOR 0.83; 95% CI 0.69-0.99) and systematic use of PrEP and/or condoms during intercourse in the previous 3 months (aOR 0.80; 95% CI 0.67-0.96) were less likely to have this perception. DISCUSSION: Given the strong interrelation between stigmatization (real or perceived), risky behaviours and adherence, our results emphasize the need for HIV prevention campaigns to promote a positive image of PrEP users. They also show that stigmatization and its effects need to be fully considered to improve HIV prevention offers to current and potential PrEP users who are most likely to be psychologically vulnerable.
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Infecciones por VIH , Profilaxis Pre-Exposición , Minorías Sexuales y de Género , Masculino , Humanos , Homosexualidad Masculina , Infecciones por VIH/prevención & control , Infecciones por VIH/tratamiento farmacológico , Conducta Sexual , Percepción , Profilaxis Pre-Exposición/métodosRESUMEN
Gundo-So is a community-based programme developed by and for women living with HIV (WLHIV) in Mali through the ARCAD-Santé-PLUS association. It provides support, co-constructed with WLHIV, to develop strategies on whether or not to disclose their status. The aim of the ANRS-12373 research is to evaluate the impact of this programme in the short and medium term. As part of this research, semi-structured interviews were conducted with participants (14). These interviews were analysed thematically. Three themes are presented here: positive feedback from the programme, which enabled them to be listened to and supported them both psychologically and financially. The impact of the programme on the participants' social network is also described, in terms of the links made with peers met during the programme. Finally, a new perspective on issues such as disease management, which improved through the contribution of knowledge, and also through the development of psychosocial resources. The programme enabled participants to acquire psychosocial skills, the ability to effectively self-manage their condition, and strategies on whether or not to disclose their HIV status. Participants' empowerment and social support in relation to the disease were developed through the programme, particularly through the links created with other women living with HIV.
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Infecciones por VIH , Humanos , Femenino , Infecciones por VIH/terapia , Infecciones por VIH/psicología , Malí , Apoyo Social , EmpoderamientoRESUMEN
PURPOSE: To compare the intraoperative and surgical outcomes of normotensive pheochromocytomas and sympathetic paragangliomas (PPGLs), hypertensive PPGLs and non-PPGL adrenal lesions. METHODS: This a retrospective multicenter cohort study of patients with PPGLs from 18 tertiary hospitals. A control group of histologically confirmed adrenocortical adenomas (non-PPGL group) was selected to compare intraoperative and surgical outcomes with of the normotensive PPGLs. RESULTS: Two hundred and ninety-six surgeries performed in 289 patients with PPGLs were included. Before surgery, 209 patients were classified as hypertensive PPGLs (70.6%) and 87 as normotensive PPGLs. A higher proportion of normotensive PPGLs than hypertensive PPGLs did not receive alpha presurgical blockade (P = 0.009). When we only considered those patients who received presurgical alpha blockers (200 hypertensive PPGLs and 76 normotensive PPGLs), hypertensive PPGLs had a threefold higher risk of intraoperative hypertensive crisis (OR 3.0 [95% 1.3-7.0]) and of hypotensive episodes (OR 2.9 [95% CI 1.2-6.7]) than normotensive PPGLs. When we compared normotensive PPGLs (n = 76) and non-PPGLs (n = 58), normotensive PPGLs had a fivefold higher risk of intraoperative complications (OR 5.3 [95% CI 1.9-14.9]) and a six times higher risk of postoperative complications (OR 6.1 [95% CI 1.7-21.6]) than non-PPGLs. CONCLUSION: Although the risk of intraoperative hypertensive and hypotensive episodes in normotensive PPGLs is significantly lower than in hypertensive PPGLs, normotensive PPGLs have a greater risk of intraoperative and postoperative complications than non-PPGL adrenal lesions. Therefore, it is recommended to follow the standard of care for presurgical and anesthetic management of PPGLs also in normotensive PPGLs.
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Neoplasias de las Glándulas Suprarrenales , Hipertensión , Paraganglioma , Feocromocitoma , Humanos , Feocromocitoma/cirugía , Feocromocitoma/patología , Estudios de Cohortes , Paraganglioma/cirugía , Paraganglioma/patología , Hipertensión/epidemiología , Neoplasias de las Glándulas Suprarrenales/cirugía , Neoplasias de las Glándulas Suprarrenales/patología , Resultado del TratamientoRESUMEN
Motivational processes underlie behaviors that enrich the human experience, and impairments in motivation are commonly observed in psychiatric illness. While motivated behavior is often examined with respect to extrinsic reinforcers, not all actions are driven by reactions to external stimuli; some are driven by 'intrinsic' motivation. Intrinsically motivated behaviors are computationally similar to extrinsically motivated behaviors, in that they strive to maximize reward value and minimize punishment. However, our understanding of the neurocognitive mechanisms that underlie intrinsically motivated behavior remains limited. Dysfunction in intrinsic motivation represents an important trans-diagnostic facet of psychiatric symptomology, but due to a lack of clear consensus, the contribution of intrinsic motivation to psychopathology remains poorly understood. This review aims to provide an overview of the conceptualization, measurement, and neurobiology of intrinsic motivation, providing a framework for understanding its potential contributions to psychopathology and its treatment. Distinctions between intrinsic and extrinsic motivation are discussed, including divergence in the types of associated rewards or outcomes that drive behavioral action and choice. A useful framework for understanding intrinsic motivation, and thus separating it from extrinsic motivation, is developed and suggestions for optimization of paradigms to measure intrinsic motivation are proposed.
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Trastornos Mentales , Motivación , Humanos , Recompensa , CastigoRESUMEN
The evolution of biological complexity is associated with the emergence of bespoke immune systems that maintain and protect organism integrity. Unlike the well-studied immune systems of cells and individuals, little is known about the origins of immunity during the transition to eusociality, a major evolutionary transition comparable to the evolution of multicellular organisms from single-celled ancestors. We aimed to tackle this by characterizing the immune gene repertoire of 18 cockroach and termite species, spanning the spectrum of solitary, subsocial and eusocial lifestyles. We find that key transitions in termite sociality are correlated with immune gene family contractions. In cross-species comparisons of immune gene expression, we find evidence for a caste-specific social defence system in termites, which appears to operate at the expense of individual immune protection. Our study indicates that a major transition in organismal complexity may have entailed a fundamental reshaping of the immune system optimized for group over individual defence.
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Cucarachas , Isópteros , Animales , Evolución Biológica , Isópteros/genética , Filogenia , Conducta SocialRESUMEN
BACKGROUND: The use of artificial intelligence (AI) algorithms for the diagnosis of skin diseases has shown promise in experimental settings but has not been yet tested in real-life conditions. OBJECTIVE: To assess the diagnostic performance and potential clinical utility of a 174-multiclass AI algorithm in a real-life telemedicine setting. METHODS: Prospective, diagnostic accuracy study including consecutive patients who submitted images for teledermatology evaluation. The treating dermatologist chose a single image to upload to a web application during teleconsultation. A follow-up reader study including nine healthcare providers (3 dermatologists, 3 dermatology residents and 3 general practitioners) was performed. RESULTS: A total of 340 cases from 281 patients met study inclusion criteria. The mean (SD) age of patients was 33.7 (17.5) years; 63% (n = 177) were female. Exposure to the AI algorithm results was considered useful in 11.8% of visits (n = 40) and the teledermatologist correctly modified the real-time diagnosis in 0.6% (n = 2) of cases. The overall top-1 accuracy of the algorithm (41.2%) was lower than that of the dermatologists (60.1%), residents (57.8%) and general practitioners (49.3%) (all comparisons P < 0.05, in the reader study). When the analysis was limited to the diagnoses on which the algorithm had been explicitly trained, the balanced top-1 accuracy of the algorithm (47.6%) was comparable to the dermatologists (49.7%) and residents (47.7%) but superior to the general practitioners (39.7%; P = 0.049). Algorithm performance was associated with patient skin type and image quality. CONCLUSIONS: A 174-disease class AI algorithm appears to be a promising tool in the triage and evaluation of lesions with patient-taken photographs via telemedicine.
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Dermatología , Enfermedades de la Piel , Telemedicina , Adulto , Inteligencia Artificial , Femenino , Humanos , Masculino , Redes Neurales de la Computación , Estudios Prospectivos , Enfermedades de la Piel/diagnósticoRESUMEN
Biomonitoring of heavy metal pollution through the use of biomarkers could be a difficult task since the organisms' physiological changes could shift regarding natural factors (i.e., the season of the year) and due to the anthropogenic pressures of the environment. In the Southwest Atlantic Ocean, where most industrial and developing countries are settled, it is essential to address these concerns to generate information for the stakeholders and monitoring programs that aim to use biochemical biomarkers as early warning signals to detect heavy metal pollution. The present study intended to determinate the heavy metal concentrations in sediments and the hepatopancreas of the crab species Neohelice granulata as well as the ecological risk through the use of biomarkers and geochemical indices in sites with different anthropogenic pressures of the Bahía Blanca estuary (SW Atlantic Ocean) during the warm and cold season. The results showed low to moderate heavy metal pollution in the sediments by Cu with possible effects on the biota in a site with sewage waters' discharges. Except for GST that was explained by Cd, the biomarkers employed were not useful to assess spatial heavy metal pollution, and they might be ruled out by physiological seasonal variations rather than anthropogenic constraints, or another type of pollutants in the area.
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Seguimiento de Parámetros Ecológicos , Estuarios , Metales Pesados/análisis , Contaminantes Químicos del Agua/análisis , Animales , Océano Atlántico , Braquiuros/metabolismo , Seguimiento de Parámetros Ecológicos/métodos , Biomarcadores Ambientales , Sedimentos Geológicos/química , Humanos , Metales Pesados/metabolismo , Medición de Riesgo , Estaciones del Año , Aguas del Alcantarillado/química , América del Sur , Contaminantes Químicos del Agua/metabolismoRESUMEN
BACKGROUND AND PURPOSE: The aim was to assess the value of insoluble PABPN1 muscle fibre nuclei accumulation in the diagnosis of atypical cases of oculopharyngeal muscular dystrophy (OPMD). METHODS: Muscle biopsies from a selected cohort of 423 adult patients from several Italian neuromuscular centres were analysed by immunofluorescence: 30 muscle biopsies of genetically proven OPMD, 30 biopsies from patients not affected by neuromuscular disorders, 220 from genetically undiagnosed patients presenting ptosis or swallowing disturbances, progressive lower proximal weakness and/or isolated rimmed vacuoles at muscle biopsy and 143 muscle biopsies of patients affected by other neuromuscular diseases. RESULTS: The detection of insoluble nuclear PABPN1 accumulation is rapid, sensitive (100%) and specific (96%). The revision of our cohort allowed us to discover 23 new OPMD cases out of 220 patients affected with nonspecific muscle diseases. CONCLUSIONS: Oculopharyngeal muscular dystrophy is often misdiagnosed leading to diagnosis delay, causing waste of time and resources. A great number of these cases present symptoms and histological findings frequently overlapping with other muscle diseases, i.e. inclusion body myositis and progressive external ophthalmoplegia. PABPN1 nuclear accumulation is a reliable method for diagnostic purposes and it is safe and useful in helping pathologists and clinicians to direct genetic analysis in the case of suspected OPMD, even when clinical and histological clues are deceptive.
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Núcleo Celular/metabolismo , Músculo Esquelético/metabolismo , Distrofia Muscular Oculofaríngea/diagnóstico , Proteína I de Unión a Poli(A)/metabolismo , Núcleo Celular/patología , Técnica del Anticuerpo Fluorescente , Humanos , Músculo Esquelético/patología , Distrofia Muscular Oculofaríngea/metabolismo , Distrofia Muscular Oculofaríngea/patologíaRESUMEN
Growing ultrathin nanogranular (NG) metallic films with continuously varying thickness is of great interest for studying regions of criticality and scaling behaviors in the vicinity of quantum phase transitions. In the present work, an ultrathin gold plasmonic NG film was grown on a sapphire substrate by RF magnetron sputtering with an intentional deposition gradient to create a linearly variable thickness ranging from 5 to 13 nm. The aim is to accurately study the electronic phase transition from the quantum tunneling regime to the metallic conduction one. The film structural characterization was performed by means of high-resolution transmission electron microscopy, atomic force microscopy, as well as x-ray diffraction and reflectivity techniques, which indicate the Volmer-Weber film growth mode. The optical and electrical measurements show a transition from dielectric-isolated gold NPs towards a continuous metallic network when t becomes larger than a critical value of tM = 7.8 nm. Our results show that the onset of the percolation region occurs when a localized surface plasma resonance transforms to display a Drude component, indicative of free charge carriers. We demonstrate that, by using a continuously varying thickness, criteria for metallicity can be unambiguously identified. The onset of metallicity is clearly distinguished by the Drude damping factor and by discontinuities in the plasma frequencies as functions of thickness.
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Arterial hypertension (HTN) can lead to serious organ damage. Several mechanisms have been implicated in the pathogenesis of HTN including constitutive activation of platelets, which increases the risk of aggregation and clot formation. We recently demonstrated the plasma membranes of platelets from patients with HTN exhibit modified structural and physicochemical properties; Raman and Fourier transform infrared by attenuated total reflectance (FTIR-ATR) spectroscopy also indicated lipid content and protein structure alterations. This study aimed to precisely quantify the constituents of the main structural phospholipids and cholesterol in the plasma membranes of platelets from patients with HTN and normotensive individuals. We also assessed the consequence of these alterations on platelet structure and function. Liquid chromatography coupled to triple quadrupole mass spectrometry revealed the plasma membranes of HTN platelets contained less cholesterol and phosphatidylcholine, more phosphatidylserine and phosphatidylethanolamine and had similar sphingosine contents. Atomic force microscopy revealed HTN platelets exhibited increased surface roughness and more pleats. Transmission electron microscopy revealed diminution of the internal membranous structures in HTN platelets. Our findings strongly suggest plasma membrane lipid content alterations-including cholesterol depletion-occur in HTN, and these alterations may induce morphological and physiological abnormalities that participate in the functional changes associated with hypertension.
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Plaquetas/metabolismo , Membrana Celular/ultraestructura , Hipertensión/metabolismo , Fosfatidiletanolaminas/metabolismo , Fosfatidilserinas/metabolismo , Anciano , Plaquetas/ultraestructura , Membrana Celular/química , Membrana Celular/metabolismo , Células Cultivadas , Femenino , Humanos , Masculino , Fluidez de la Membrana , Persona de Mediana EdadRESUMEN
BACKGROUND: Health professionals commonly use gait speed in the evaluation of functional status in older people. However, only a limited number of studies have assessed gait speed in the absence of disorders of gait, using confounding factors and exclusion criteria coming from studies conducted in younger people. Our study aims to analyse which factors are associated with gait speed in older people with normal clinical gait. METHODS: An observational cross-sectional study was conducted in 119 community-dwelling residents without relevant comorbidities (Charlson index < 2), preserved function (Barthel > 85) and normal gait by visual exploration. Exclusion criteria included suffering from any illness that could modify the characteristics of gait, terminal status or the presence of an acute medical illness in the past 3 months. We used a stepwise linear regression of several variables (sociodemographic characteristics, cognition, body composition, drugs, falls, sarcopenia, frailty and physical activity) on 6-metre gait speed. RESULTS: The mean age was 78 years (range 70-96 years) and 71.4% were women. Variables that remained associated with gait speed in the multivariate final model were age (B = - 0.020, p < 0.001); gender (B = - 0.184, p < 0.001); waist-to-height ratio (B = - 0.834, p = 0.002); number of falls (B = - 0.049, p = 0.003) and the number of Fried's frailty criteria (B = - 0.064, p = 0.019). CONCLUSION: Falls, frailty and the waist-to-height ratio modify gait speed in older people with normal gait. Studies analysing the potential effect of several factors on gait speed should consider them as confounding factors.
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Velocidad al Caminar , Accidentes por Caídas , Anciano , Anciano de 80 o más Años , Cognición , Estudios Transversales , Ejercicio Físico , Femenino , Anciano Frágil , Fragilidad , Humanos , Vida Independiente , Masculino , Sarcopenia/fisiopatologíaRESUMEN
In environmental biotechnology applications for wastewater treatment, bacterial-based bioprocesses are mostly implemented; on the contrary, the application of fungal-based bioprocesses, is still challenging under non-sterile conditions. In a previous laboratory-scale study, we showed that when specific tannins are used as the sole carbon source, fungi can play a key role in the microbial community, under non-sterile conditions and in the long term. In a previous study, an engineered ecosystem, based on fungal tannin biodegradation, was successfully tested in a laboratory-scale bioreactor under non-sterile conditions. In the present study, a kinetic and stoichiometric characterisation of the biomass developed therein was performed through the application of respirometric techniques applied to the biomass collected from the above-mentioned reactor. To this aim, a respirometric set-up was specifically adapted to obtain valuable information from tannin-degrading fungal biofilms. A mathematical model was also developed and applied to describe both the respirometric profiles and the experimental data collected from the laboratory-scale tests performed in the bioreactor. The microbial growth was described through a Monod-type kinetic equation as a first approach. Substrate inhibition, decay rate and tannin hydrolysis process were included to better describe the behaviour of immobilised biomass selected in the tannin-degrading bioreactor. The model was implemented in AQUASIM using the specific tool Biofilm Compartment to simulate the attached fungal biofilm. Biofilm features and transport parameters were either measured or assumed from the literature. Key kinetic and stoichiometric unknown parameters were successfully estimated, overcoming critical steps for scaling-up a novel fungal-based technology for tannins biodegradation.
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Reactores Biológicos , Ecosistema , Biodegradación Ambiental , Biopelículas , Hongos , TaninosRESUMEN
The experiment presented is the result of a partnership between the Paris-Nanterre University (CLIPSYD laboratory, EA 4430) and the CSAPA Imagine (Simone Veil Hospital, GH Eaubonne-Montmorency). Virtual reality immersion exposure for pathological gamblers is beneficial in the context of cognitive and behavioral interventions. It can be used to evoke the desire to play and to have access to automatic thoughts and mistaken beliefs of the players when they find themselves in a gambling context. Exposure is used until the urge to play diminishes and disappears which is the process of desensitization or extinction. OBJECTIVE: The objective of the study was to investigate the possibilities implemented by virtual reality in the case of an exhibition for pathological gamers to create a desire to play and work with the patient in an environment identical to the ecological one. Two hypotheses were proposed. On the one hand, the virtual reality exhibition will help to change the desire to play in relation to the game. On the other hand, virtual exhibition sessions associated with cognitive restructuring will have a greater impact on the perception of reality. METHOD: After a diagnosis was made, participation in the study was offered to patients (n=10) in routine care and able to participate (exclusion criteria). It consisted of four virtual reality exposure sessions integrated with traditional care. Exposure did not exceed 20minutes. To carry out this study we used the virtual reality headset "Oculus Rift CV1" and the headphones measuring EEG waves, "Emotiv Epoc". A battery of questionnaires were proposed to evaluate gambling-related behaviors (ICJP, GRCS, UPPS), to analyze the interest of the virtual reality exhibition (SIS, CGI, TEI, EVA), and to glimpse the immersion abilities (QEP and QPI). RESULTS: Ten participants aged 25 to 60 agreed to participate in the study. The results of this study demonstrated the viability of RV gamers' exposure as a tool that can help reduce pathological gambling symptoms and the severity perceived by therapists (CPI: t=1.6, P=0.001; CGI: t=4.87, P=0.001) between the beginning of the care and the end of the care and at D+1. We were also able to observe significant results (P<0.05) concerning a decrease in cognitive distortions (GRCS tot, Illusion of control, Power of prediction, Favorable interpretation). CONCLUSION: The feasibility study shows that the desire to play is very present during the virtual reality exhibition in accordance with literature studies. The results also demonstrate the utility of virtual reality to allow the patient to elaborate on the cognitive distortions associated with the practice of pathological gambling. From a therapeutic point of view, the results suggest that virtual reality can increase the effectiveness of cognitive restructuring and increase understanding of the urge to play related to stimuli in the environment of play.
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Juego de Azar/terapia , Realidad Virtual , Adulto , Manual Diagnóstico y Estadístico de los Trastornos Mentales , Electroencefalografía , Estudios de Factibilidad , Femenino , Juego de Azar/psicología , Humanos , Conducta Impulsiva , Masculino , Persona de Mediana Edad , Motivación , Pruebas Neuropsicológicas , Encuestas y Cuestionarios , Resultado del TratamientoRESUMEN
Tannins are polyphenolic compounds produced by plants that are used in the vegetable tanning of leather at industrial scale. Quebracho tannin and Tara tannin are intensively used by the tanning industry and are two of the most recalcitrant compounds that can be found in tannery wastewaters. In this study two reactors fed with Quebracho tannin and Tara tannin, respectively, were inoculated with polyurethane foam cubes colonized with a fungal strain biofilm of Aspergillus tubingensis MUT 990. A stable biofilm was maintained in the reactor fed with Quebracho tannin during 180 days of operation. Instead, biofilm got detached from the foam cubes during the start-up of the reactor fed with Tara tannin and a bacterial-based suspended culture was developed and preserved along the operational period (226 days). Soluble chemical oxygen demand removals up to 53% and 90% and maximum elimination capacities of 9.1â¯g sCOD m-3 h-1 and 37.9â¯g sCOD m-3 h-1 of Quebracho and Tara tannins, respectively, were achieved in the reactors without the addition of co-substrates. Next generation sequencing analysis for bacteria and fungi showed that a fungal consortium was developed in the reactor fed with Quebracho tannin while fungi were outcompeted by bacteria in the reactor fed with Tara tannin. Furthermore, Quebracho and Tara tannins were successfully co-treated in a single reactor where both fungi and bacteria were preserved.
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Reactores Biológicos , Taninos , Biopelículas , Hongos , Aguas ResidualesRESUMEN
AIMS: Pompe disease is an autosomal recessive lysosomal storage disorder resulting from deficiency of acid α-glucosidase (GAA) enzyme. Histopathological hallmarks in skeletal muscle tissue are fibre vacuolization and autophagy. Since 2006, enzyme replacement therapy (ERT) is the only approved treatment with human recombinant GAA alglucosidase alfa. We designed a study to examine ERT-related skeletal muscle changes in 18 modestly to moderately affected late onset Pompe disease (LOPD) patients along with the relationship between morphological/biochemical changes and clinical outcomes. Treatment duration was short-to-long term. METHODS: We examined muscle biopsies from 18 LOPD patients at both histopathological and biochemical level. All patients underwent two muscle biopsies, before and after ERT administration respectively. The study is partially retrospective because the first biopsies were taken before the study was designed, whereas the second biopsy was always performed after at least 6 months of ERT administration. RESULTS: After ERT, 15 out of 18 patients showed improved 6-min walking test (6MWT; P = 0.0007) and most of them achieved respiratory stabilization. Pretreatment muscle biopsies disclosed marked histopathological variability, ranging from an almost normal pattern to a severe vacuolar myopathy. After treatment, we detected morphological improvement in 15 patients and worsening in three patients. Post-ERT GAA enzymatic activity was mildly increased compared with pretreatment levels in all patients. Protein levels of the mature enzyme increased in 14 of the 18 patients (mean increase = +35%; P < 0.05). Additional studies demonstrated an improved autophagic flux after ERT in some patients. CONCLUSIONS: ERT positively modified skeletal muscle pathology as well as motor and respiratory outcomes in the majority of LOPD patients.
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Enfermedad del Almacenamiento de Glucógeno Tipo II/tratamiento farmacológico , Enfermedad del Almacenamiento de Glucógeno Tipo II/patología , Músculo Esquelético/efectos de los fármacos , Músculo Esquelético/patología , alfa-Glucosidasas/uso terapéutico , Adulto , Anciano , Terapia de Reemplazo Enzimático/métodos , Femenino , Humanos , Masculino , Persona de Mediana Edad , Proteínas Recombinantes/uso terapéutico , Estudios RetrospectivosRESUMEN
Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability and the leading form of the monogenic cause of autism. Fragile X mental retardation type 1 (FMR1) gene premutation is the first single-gene cause of primary ovarian failure (Fragile X-associated primary ovarian insufficiency [FXPOI]) and one of the most common causes of ataxia (fragile X-associated tremor/ataxia syndrome [FXTAS]), multiple additional phenotypes such as fibromyalgia, hypothyroidism, migraine headaches, sleep disturbances, sleep apnea, restless legs syndrome, central pain syndrome, neuropathy and neuropsychiatric alterations has been described. Clinical involvement in men and women carrying the FMR1 premutation currently constitutes a real health problem in the society that should be taken into account. It is important to highlight that while in FXS there is a loss-of-function of the FMR1 gene, in premutation associated disorders there is a gain of FMR1 mRNA function. To date, the tremendous progress achieved in the understanding of the pathophysiology of FXS, has led to the development of several targeted therapies aimed at preventing or improving the neurological manifestations of the disease. This review is an update of the diseases associated with the FMR1 gene.
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Ataxia/genética , Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil/genética , Síndrome del Cromosoma X Frágil/genética , Insuficiencia Ovárica Primaria/genética , Temblor/genética , Ataxia/patología , Trastorno Autístico/genética , Trastorno Autístico/patología , Femenino , Síndrome del Cromosoma X Frágil/patología , Heterocigoto , Humanos , Discapacidad Intelectual/genética , Discapacidad Intelectual/patología , Masculino , Insuficiencia Ovárica Primaria/patología , Temblor/patologíaRESUMEN
FMR1 premutation carriers (55-200 CGGs) are at risk of developing Fragile X-associated primary ovarian insufficiency as well as Fragile X-associated tremor/ataxia syndrome. FMR1 premutation alleles are also associated with a variety of disorders, including psychiatric, developmental, and neurological problems. However, there is a major concern regarding clinical implications of smaller CGG expansions known as intermediate alleles (IA) or gray zone alleles (45-54 CGG). Although several studies have hypothesized that IA may be involved in the etiology of FMR1 premutation associated phenotypes, this association still remains unclear. The aim of this study was to provide new data on the clinical implications of IA. We reviewed a total of 17 011 individuals: 1142 with primary ovarian insufficiency, 478 with movement disorders, 14 006 with neurodevelopmental disorders and 1385 controls. Similar IA frequencies were detected in all the cases and controls (cases 1.20% vs controls 1.39%, P = .427). When comparing the allelic frequencies of IA ≥ 50CGGs, a greater, albeit not statistically significant, number of alleles were detected in all the cohorts of patients. Therefore, IA below 50 CGGs should not be considered as risk factors for FMR1 premutation-associated phenotypes, at least in our population. However, the clinical implication of IA ≥ 50CGGs remains to be further elucidated.
Asunto(s)
Alelos , Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil/genética , Predisposición Genética a la Enfermedad , Variación Genética , Población Blanca/genética , Adulto , Femenino , Frecuencia de los Genes , Estudios de Asociación Genética , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Vigilancia de la Población , España , Adulto JovenRESUMEN
BACKGROUND: Sexual assault is a global concern with post-traumatic stress disorder (PTSD), one of the common sequelae. Early intervention can help prevent PTSD, making identification of those at high risk for the disorder a priority. Lack of representative sampling of both sexual assault survivors and sexual assaults in prior studies might have reduced the ability to develop accurate prediction models for early identification of high-risk sexual assault survivors. METHODS: Data come from 12 face-to-face, cross-sectional surveys of community-dwelling adults conducted in 11 countries. Analysis was based on the data from the 411 women from these surveys for whom sexual assault was the randomly selected lifetime traumatic event (TE). Seven classes of predictors were assessed: socio-demographics, characteristics of the assault, the respondent's retrospective perception that she could have prevented the assault, other prior lifetime TEs, exposure to childhood family adversities and prior mental disorders. RESULTS: Prevalence of Diagnostic and Statistical Manual of Mental Disorders IV (DSM-IV) PTSD associated with randomly selected sexual assaults was 20.2%. PTSD was more common for repeated than single-occurrence victimization and positively associated with prior TEs and childhood adversities. Respondent's perception that she could have prevented the assault interacted with history of mental disorder such that it reduced odds of PTSD, but only among women without prior disorders (odds ratio 0.2, 95% confidence interval 0.1-0.9). The final model estimated that 40.3% of women with PTSD would be found among the 10% with the highest predicted risk. CONCLUSIONS: Whether counterfactual preventability cognitions are adaptive may depend on mental health history. Predictive modelling may be useful in targeting high-risk women for preventive interventions.