Search results for " US"
showing 10 items of 8047 documents
Clinical Features at Onset and Genetic Characterization of Pediatric and Adult Patients with TNF-α Receptor—Associated Periodic Syndrome (TRAPS): A S…
2020
This study explores demographic, clinical, and therapeutic features of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a cohort of 80 patients recruited from 19 Italian referral Centers. Patients’ data were collected retrospectively and then analyzed according to age groups (disease onset before or after 16 years) and genotype (high penetrance (HP) and low penetrance (LP) TNFRSF1A gene variants). Pediatric- and adult-onset were reported, respectively, in 44 and 36 patients; HP and LP variants were found, respectively, in 32 and 44 cases. A positive family history for recurrent fever was reported more frequently in the pediatric group than in the adult group (p<0.05…
Characterization of Differentially Expressed Circulating miRNAs in Metabolically Healthy versus Unhealthy Obesity
2021
Obese individuals without metabolic comorbidities are categorized as metabolically healthy obese (MHO). MicroRNAs (miRNAs) may be implicated in MHO. This cross-sectional study explores the link between circulating miRNAs and the main components of metabolic syndrome (MetS) in the context of obesity. We also examine oxidative stress biomarkers in MHO vs. metabolically unhealthy obesity (MUO). We analysed 3536 serum miRNAs in 20 middle-aged obese individuals: 10 MHO and 10 MUO. A total of 159 miRNAs were differentially expressed, of which, 72 miRNAs (45.2%) were higher and 87 miRNAs (54.7%) were lower in the MUO group. In addition, miRNAs related to insulin signalling and lipid metabolism pat…
Ocular Clocks: Adapting Mechanisms for Eye Functions and Health
2018
Vision is a highly rhythmic function adapted to the extensive changes in light intensity occurring over the 24-hour day. This adaptation relies on rhythms in cellular and molecular processes, which are orchestrated by a network of circadian clocks located within the retina and in the eye, synchronized to the day/night cycle and which, together, fine-tune detection and processing of light information over the 24-hour period and ensure retinal homeostasis. Systematic or high throughput studies revealed a series of genes rhythmically expressed in the retina, pointing at specific functions or pathways under circadian control. Conversely, knockout studies demonstrated that the circadian clock re…
The growing role of precision medicine for the treatment of autoimmune diseases; results of a systematic review of literature and Experts’ Consensus
2021
International audience; Autoimmune diseases (AIDs) share similar serological, clinical, and radiological findings, but, behind these common features, there are different pathogenic mechanisms, immune cells dysfunctions, and targeted organs. In this context, multiple lines of evidence suggest the application of precision medicine principles to AIDs to reduce the treatment failure. Precision medicine refers to the tailoring of therapeutic strategies to the individual characteristics of each patient, thus it could be a new approach for management of AIDS which considers individual variability in genes, environmental exposure, and lifestyle. Precision medicine would also assist physicians in ch…
Repeated, Intermittent Social Defeat across the Entire Juvenile Period Resulted in Behavioral, Physiological, Hormonal, Immunological, and Neurochemi…
2016
The developing brain is vulnerable to social defeat during the juvenile period. As complements of human studies, animal models of social defeat provide a straightforward approach to investigating the functional and neurobiological consequences of social defeats. Taking advantage of agonist behavior and social defeat in male golden hamster, a set of 6 experiments was conducted to investigate the consequences at multiple levels in young adulthood resulting from repeated, intermittent social defeats or “social threats” across the entire juvenile period. Male hamsters at postnatal day 28 (P28) were randomly assigned to either the social defeat, “social threat”, or arena control group, and they …
Cognitive functioning throughout adulthood and illness stages in individuals with psychotic disorders and their unaffected siblings
2021
The European Community’s Seventh Framework Programme under grant agreement No. HEALTH-F2-2010-241909 (EUGEI); The Spanish sample was supported by the Spanish Ministry of Science and Innovation, Instituto de Salud Carlos III (SAM16PE07CP1, PI16/02012, PI19/024) (...)
SAT0025 THE EFFECT OF DIMETHYL FUMARATE ON PLASMABLAST DIFFERENTIATION TRANSCRIPTIONAL PROGRAMMES IN SYSTEMIC LUPUS ERYTHEMATOSUS
2019
Background: Dimethyl fumarate (DMF), is an immunomodulatory drug approved for the treatment of Multiple Sclerosis (MS) and Psoriasis. The exact mechanism of action of DMF is not entirely known. Anti-inflammatory and immunomodulatory effects have been observed, including the upregulation of NRF-2, the inhibition of TIGAR and the block of the E2 ubiquitin-conjugating enzyme UBEL3. Further evidence from MS patients suggests a modulation on B cell activation. Although beneficial effects of DMF have been observed in animal models of lupus nephritis and limited cases human cutaneous lupus, the effect of DMF on B cell maturation transcriptional programmes in systemic Lupus Erythematosus (SLE) has …
New insights into the pathogenesis of giant cell arteritis
2017
Giant cell arteritis (GCA) is an inflammatory chronic disease occurring exclusively in elderly individuals. Until recently, the disease has been considered a unique disease resulting from the interaction in the walls of susceptible arteries, between an unknown infectious agents with local dendritic cells (DCs), activated CD4 T cells and effector macrophages. Recent evidence has shown that this view was too simplistic and has clarified many of the pathogenetic aspects of the disease. Many genetic studies recently published have identified different new genes, including cytokines, adhesion molecules and regulators of innate immunity, as crucial players in the development and progression of GC…
Improving the Translational Medicine Process: Moving Patients From "End-Users" to "Engaged Collaborators".
2019
Translational medicine works through the definition of unmet medical needs, their understanding and final resolution. In this complex and multi-disciplinary process patients have always been regarded as "end-users" or no more than "data provider." Considering that the translational practice is nowadays highly inefficient (i.e., large intellectual and economical resources are wasted with limited impact on people health) here we propose to reverse the process: start from patients, engage them, and keep them at the center. A new partnership needs to be formed between the patients and the health care professionals, as well as the treating physicians, to make the most out of the current "health …
El diagnóstico de la crisis de la cultura en España: del recorte público a la crisis sistémica
2016
Since its invention in the fifties, cultural policy has been subject of analysis and reflection by Social Sciences. However, Spain, due to Franco period, has a number of distinguishing features as compared to Western European democracies. With the restoration of democracy, Spain acquires the dominant paradigm of a democratic cultural policy based on freedom, pluralism and the right to culture. However, after decades of democratic governments, diagnosis of cultural policy in Spain shows signs of systemic crisis, added to the impact of the global financial crisis at the beginning of the XXI century. In this context, scholars, using the Delphi method along with secondary sources, identify a se…