Restless legs syndrome/willis Ekbom disease: new diagnostic criteria according to different nosology

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Trabajo, migraciones y riesgo hídrico : Semejanzas y diferencias en los modos de pensar, sentir y actuar en contextos de pobreza urbana

La presente ponencia pretende adentrarse en el conocimiento de las trayectorias de vulnerabilidad que se despliegan en ámbitos de la vida cotidiana de sujetos que tienen restringido el acceso a sus derechos y limitadas sus posibilidades. A sabiendas que se trata de situaciones caracterizadas por su heterogeneidad y multidimensionalidad, intentaremos igualmente introducirnos, en los modos en que los sujetos piensan, sienten y actúan sus condiciones de vida, desde una mirada centrada en identificar rupturas y continuidades en los procesos de configuración territoriales. El presente estudio compara dos barrios de la ciudad de Santa Fe, indagando la situación de hogares con larga trayectoria de vida en la pobreza, los que han registrado un empeoramiento en sus condiciones de vida, vinculado a las consecuencias producidas por las políticas socioeconómicas de las últimas décadas. Es el resultado de dos proyectos de investigación y extensión de cátedra, (Año 2007, 2008, 2009). Siendo el primero de carácter sociodemográfico, nos habilitó un basamento cuantitativo, para luego diagramar una proyección de corte cualitativo, cuya riqueza es valorada en términos de percepciones, creencias y representaciones de los sujetos – objetos de la presente investigación. Las fuentes de datos utilizadas (encuestas, registro etnográfico, entrevistas e historias de vida), fueron interpretados desde el corpus teórico seleccionado por el equipo de investigación desde diferentes enfoques epistémicos.Facultad de Humanidades y Ciencias de la Educació

Cognitive Reserve in Isolated Rapid Eye-Movement Sleep Behavior Disorder

Isolated rapid-eye-movement sleep behaviour disorder (RBD) is considered the prodromal stage of α-synucleinopathies (e.g., Parkinson’s disease and dementia with Lewy bodies); however, iRBD patients show a wide variety in the progression timing (5–15 years). The model of cognitive reserve (CR) might contribute to explaining this phenomenon. Our exploratory study aimed to evaluate, for the first time, the impact of CR level on cognitive performance in polysomnography-confirmed iRBD patients. Fifty-five iRBD patients (mean age ± SD: 66.38 ± 7.51; M/F 44/11) underwent clinical and neuropsychological evaluations at the time of diagnosis. The CR Index questionnaire was part of the clinical assessment. We found that iRBD patients with high levels of CR showed: (i) the lowest percentage of mild cognitive impairment (10%), and (ii) the best performance in visuo-constructive and verbal memory functions (i.e., the recall of the Rey–Osterrieth complex figure test). Our results suggest that CR might help iRBD patients better cope with the cognitive decline related to the neurodegenerative process, providing the first preliminary findings supporting CR as a possible protective factor in this condition. This might pave the way for future longitudinal studies to evaluate the role of CR as a modulating factor in the timing of iRBD conversion and cognitive deterioration development.</p

Executive Functioning and Personality Traits in Insomnia Disorder: A Preliminary Report on the Clinical Importance of Objective and Subjective Reduction of Total Sleep Time

To confirm and extend previous findings on the relationships between executive functioning (EF) and insomnia, as well as the available evidence on the associations between personality traits and insomnia, 30 consecutively-admitted insomnia participants and 30 community dwelling adult participants matched on age, gender and educational level, were administered a battery of EF measures and the Personality Inventory for DSM-5 (PID-5). Insomnia participants underwent two full-night polysomnographic (PSG) recording, followed by a morning assessment of subjective sleep parameters. A misperception index (MI) was computed in order to identify participants characterized by objective insomnia and non-objective insomnia. The EF performance associations between insomnia and poor performance on selected executive functions was confirmed. However, the objective insomnia and non-objective insomnia sub-groups show significant differences on specific EF indices, as well as on dysfunctional personality dimensions

HIV-1 transcriptional silencing caused by TRIM22 inhibition of Sp1 binding to the viral promoter

Background: Intracellular defense proteins, also referred to as restriction factors, are capable of interfering with different steps of the viral life cycle. Among these, we have shown that Tripartite motif 22 (TRIM22) suppresses basal as well as phorbol ester-induced HIV-1 long terminal repeat (LTR)-mediated transcription, independently of its E3 ubiquitin ligase activity, nuclear factor kappa-light-chain-enhancer of activated B cells (NF-kB) binding to the U3 region and Tat interaction with the TAR region of the HIV-1 LTR. As basal HIV-1 transcription is driven by the transcription factor specificity protein 1 (Sp1), we have investigated whether TRIM22 could interfere with Sp1-driven transcriptional activation of the HIV-1 LTR. Findings: 293T cells, devoid of endogenous TRIM22 expression, were transfected with a TRIM22-expressing plasmid together with reporter plasmids driven by the HIV-1 LTR promoter either containing or lacking Sp1 binding sites or with reporter plasmids driven by non-viral promoter sequences either containing or lacking the three Sp1 binding sites from the HIV-1 LTR. These reporter assays showed that TRIM22 efficiently inhibited Sp1-driven transcription. Knocking down TRIM22 expression in the CD4+ SupT1 T cell line increased the replication of Sp1-dependent HIV-1 variants. TRIM22 did not interact with Sp1, but prevented binding of Sp1 to the HIV-1 promoter, as demonstrated in protein-DNA pull down and chromatin immunoprecipitation assays. Conclusion: TRIM22 acts as a suppressor of basal HIV-1 LTR-driven transcription by preventing Sp1 binding to the HIV-1 promoter

Sex-based disparities in dopamine agonist response in patients with restless legs syndrome

This study aimed to investigate sex-related differences in the response to ropinirole and pramipexole in patients with restless legs syndrome (RLS). By analysing clinical parameters and polysomnographic (PSG) findings, we sought to elucidate the potential factors related to sex disparities modulating treatment responses and sleep quality in RLS. A total of 41 drug-free patients with RLS, aged &gt;= 18 years, underwent two consecutive nocturnal PSG recordings, without medication at baseline; before the second night, 26 patients received an oral dose of 0.25 mg pramipexole whereas 15 received 0.5 mg ropinirole. After each PSG recording, patients self-evaluated the severity of their previous night symptoms by means of an ad hoc visual analogue scale (VAS). At baseline, sleep efficiency and percentage of Stage N2 tended to be higher in females while wakefulness after sleep onset was significantly higher in males. After treatment, total leg movements during sleep (LMS), periodic LMS (PLMS), and periodicity indexes were significantly lower in females than in males. The VAS score was lower after treatment in all patients, without differences between the two sexes. This study demonstrates a higher acute responsiveness of PLMS to dopamine agonists (pramipexole and ropinirole) in females than in males with RLS. These findings might be explained by differential sex-related expression of dopamine receptors, especially D3, within the central nervous system. In addition, our findings provide translational hints toward a better tailored and sex-specific approach to the treatment of RLS associated with PLMS, with dopamine agonist possibly associated with a better outcome in females than in males

Functional proteomic atlas of HIV infection in primary human CD4+ T cells.

Viruses manipulate host cells to enhance their replication, and the identification of cellular factors targeted by viruses has led to key insights into both viral pathogenesis and cell biology. In this study, we develop an HIV reporter virus (HIV-AFMACS) displaying a streptavidin-binding affinity tag at the surface of infected cells, allowing facile one-step selection with streptavidin-conjugated magnetic beads. We use this system to obtain pure populations of HIV-infected primary human CD4+ T cells for detailed proteomic analysis, and quantitate approximately 9000 proteins across multiple donors on a dynamic background of T cell activation. Amongst 650 HIV-dependent changes (q < 0.05), we describe novel Vif-dependent targets FMR1 and DPH7, and 192 proteins not identified and/or regulated in T cell lines, such as ARID5A and PTPN22. We therefore provide a high-coverage functional proteomic atlas of HIV infection, and a mechanistic account of host factors subverted by the virus in its natural target cell

Assigning single clinical features to their disease-locus in large deletions: the example of chromosome 1q23-25 deletion syndrome

Aim: Assigning a disease-locus within the shortest regions of overlap (SRO) shared by deleted/duplicated subjects presenting this disease is a robust mapping approach, although the presence of different malformation traits and their attendance only in a part of the affected subjects can hinder the interpretation. To overcome the problem of incomplete penetrance, we developed an algorithm that we applied to the deletion region 1q23.3-q25, which contains three SROs, each contributing to the abnormal phenotype without clearly distinguishing between the different malformations. We describe six new subjects, including a healthy father and his daughter, with 1q23.3-q25 deletion of different sizes. The aim of this study was to correlate specific abnormal traits to the haploinsufficiency of specific gene/putative regulatory elements. Methods: Merging cases with those in the literature, we considered four traits, namely intellectual disability (ID), microcephaly, short-hands/feet, and brachydactyly, and conceived a mathematical model to predict with what probability the haploinsufficiency of a specific portion of the deletion region is associated with one of the four malformations. Results: The haploinsufficiency of PBX1 is strongly associated with ID. DNM3 and LHX4 are confirmed as responsible for growth retardation, whereas ATPIB1 was identified as a new candidate gene for microcephaly, short-hands/feet, and brachydactyly. Conclusion: Although our model is hampered by long-term position effects of regulatory elements, synergistic cooperation of several genes, and incomplete clinical assessment, it can be useful for contiguous gene syndromes showing a complex pattern of clinical characteristics. Obviously, functional approaches are needed to warrant its reliability

Validation of an Automated System for the Extraction of a Wide Dataset for Clinical Studies Aimed at Improving the Early Diagnosis of Candidemia

: There is increasing interest in assessing whether machine learning (ML) techniques could further improve the early diagnosis of candidemia among patients with a consistent clinical picture. The objective of the present study is to validate the accuracy of a system for the automated extraction from a hospital laboratory software of a large number of features from candidemia and/or bacteremia episodes as the first phase of the AUTO-CAND project. The manual validation was performed on a representative and randomly extracted subset of episodes of candidemia and/or bacteremia. The manual validation of the random extraction of 381 episodes of candidemia and/or bacteremia, with automated organization in structured features of laboratory and microbiological data resulted in ≥99% correct extractions (with confidence interval &lt; ±1%) for all variables. The final automatically extracted dataset consisted of 1338 episodes of candidemia (8%), 14,112 episodes of bacteremia (90%), and 302 episodes of mixed candidemia/bacteremia (2%). The final dataset will serve to assess the performance of different ML models for the early diagnosis of candidemia in the second phase of the AUTO-CAND project

Poly(methyl methacrylate) - Palladium clusters nanocomposite formation by supersonic cluster beam deposition: a method for microstructured metallization of polymer surfaces

Nanocomposite films were fabricated by supersonic cluster beam deposition (SCBD) of palladium clusters on Poly(methyl methacrylate) (PMMA) surfaces. The evolution of the electrical conductance with cluster coverage and microscopy analysis show that Pd cluster are implanted in the polymer and form a continuous layer extending for several tens of nanometers beneath the polymer surface. This allows the deposition, using stencil masks, of cluster-assembled Pd microstructures on PMMA showing a remarkably high adhesion compared to metallic films obtained by thermal evaporation. These results suggest that SCBD is a promising tool for the fabrication of metallic microstructures on flexible polymeric substrates.Comment: 11 pages, 3 figure