561 research outputs found
error analysis in the determination of the dynamic coefficients of tilting pad journal bearings
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Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy
Narcolepsy has genetic and environmental risk factors, but the specific genetic risk loci and interaction with environmental triggers are not well understood. Here, the authors identify genetic loci for narcolepsy, suggesting infection as a trigger and dendritic and helper T cell involvement.
Narcolepsy type 1 (NT1) is caused by a loss of hypocretin/orexin transmission. Risk factors include pandemic 2009 H1N1 influenza A infection and immunization with Pandemrix (R). Here, we dissect disease mechanisms and interactions with environmental triggers in a multi-ethnic sample of 6,073 cases and 84,856 controls. We fine-mapped GWAS signals within HLA (DQ0602, DQB1*03:01 and DPB1*04:02) and discovered seven novel associations (CD207, NAB1, IKZF4-ERBB3, CTSC, DENND1B, SIRPG, PRF1). Significant signals at TRA and DQB1*06:02 loci were found in 245 vaccination-related cases, who also shared polygenic risk. T cell receptor associations in NT1 modulated TRAJ*24, TRAJ*28 and TRBV*4-2 chain-usage. Partitioned heritability and immune cell enrichment analyses found genetic signals to be driven by dendritic and helper T cells. Lastly comorbidity analysis using data from FinnGen, suggests shared effects between NT1 and other autoimmune diseases. NT1 genetic variants shape autoimmunity and response to environmental triggers, including influenza A infection and immunization with Pandemrix (R)
The uncomfortable object
Neste texto relacionamos estratĂ©gias simbĂłlicas presentes no trabalho de trĂŞs artistas brasileiras, Erica Versutti, Lorena D’Arc e Marta Strambi. Artistas escolhidas a partir da observação de uma potĂŞncia crĂtica, relacionada Ă presença de frutos que, em seus trabalhos, se tornam objetos incĂ´modos, provocadores, quando os relacionamos com o princĂpio de sobrevivĂŞncia, presente nas associações entre a vida, a natureza e a arte. Dessa maneira, tais objetos nos sugerem um alinhamento com dimensões ativas sobre o paradoxo da vida em sua dimensĂŁo globalizada. Algo
que, no campo das artes visuais, admite-se como presença, situando a nostalgia da natureza perdida como uma distopia1132110120In this paper we relate symbolic strategies present in the work of three Brazilian artists, Erica Versutti, Lorena D’Arc and Marta Strambi. Artists chosen from the observation of a critic power related to the presence of fruits that, in their works, become uncomfortable and provocative objects when we relate them to the principle of survival, present in the associations between life, nature and art. Thus, such objects suggests to us an alignment with active dimensions about the paradox of life in its globalized
dimension. Something that, in the field of visual arts, is admitted as presence, situating the nostalgia for lost nature as a dystopi
New approaches to the study of periodic leg movements during sleep in restless legs syndrome
Study Objectives: To describe a new approach for the analysis of quantity, type, and periodicity of the leg motor activity during sleep in patients with restless legs syndrome (RLS) and periodic leg movements (PLM). Methods: The following parameters were taken into account for LM: duration, amplitude, area under the curve, sleep stage, side, interval, and bilaterality. The analysis of inter-LM intervals was carried out by drawing their distribution graphs. A new index evaluated their periodicity and was validated by means of a Markovian analysis. The differences in inter-LM intervals, LM duration, and area under the curve between normal controls and patients and between the 3 patient subgroups identified on the basis of their periodicity were statistically analyzed. Setting: N/A Participants: Sixty-five patients with RLS and periodic LM and 22 young healthy controls. Measurements and Results: The RLS patients' inter-LM interval distribution graph showed a wide peak with a maximum located at around 15 to 30 seconds and extending from 10 to 90 seconds, not present in controls, and another peak for intervals less than 8 seconds, higher than that of controls. Three patient subgroups were identified with different proportions of these 2 peaks, periodicity, and Markovian parameters. Periodicity was not dependent on the periodic leg movement index. Patients showing the peak mainly at around 15 to 30 seconds tended to show slightly longer and higher area under the curve LM than did the other 2 subgroups. Conclusions: Our new approach seems to be useful in a new qualitative differentiation among patients with PLM, which is not possible by using the simple PLM index
Neuropsychological changes in isolated REM sleep behavior disorder: A systematic review and meta-analysis of cross-sectional and longitudinal studies
The aim of this meta-analysis is twofold: (a) to assess cognitive impairments in isolated rapid eye movement (REM) sleep behavior disorder (iRBD) patients compared to healthy controls (HC); (b) to quantitatively estimate the risk of developing a neurodegenerative disease in iRBD patients according to baseline cognitive assessment. To address the first aim, cross-sectional studies including polysomnography-confirmed iRBD patients, HC, and reporting neuropsychological testing were included. To address the second aim, longitudinal studies including polysomnography-confirmed iRBD patients, reporting baseline neuropsychological testing for converted and still isolated patients separately were included. The literature search was conducted based on PRISMA guidelines and the protocol was registered at PROSPERO (CRD42021253427). Cross-sectional and longitudinal studies were searched from PubMed, Web of Science, Scopus, and Embase databases. Publication bias and statistical heterogeneity were assessed respectively by funnel plot asymmetry and using I2. Finally, a random-effect model was performed to pool the included studies. 75 cross-sectional (2,398 HC and 2,460 iRBD patients) and 11 longitudinal (495 iRBD patients) studies were selected. Cross-sectional studies showed that iRBD patients performed significantly worse in cognitive screening scores (random-effects (RE) model = –0.69), memory (RE model = –0.64), and executive function (RE model = –0.50) domains compared to HC. The survival analyses conducted for longitudinal studies revealed that lower executive function and language performance, as well as the presence of mild cognitive impairment (MCI), at baseline were associated with an increased risk of conversion at follow-up. Our study underlines the importance of a comprehensive neuropsychological assessment in the context of iRBD
Surgical management of follicular thyroid carcinoma in children and adolescents: A study of 30 cases
Experimental Study of the Effects of Three Types of Meat on Endothelial Function in a Group of Healthy Volunteers
Background: There is a relationship between atherosclerotic risk factors and increased vascular production of reactive oxygen species (ROS). Oxidized LDL and ROS may directly cause endothelial dysfunction by reducing endothelial nitric oxide (NO) bioavailability. The semi-essential amino acid L-arginine is the only substrate for NO synthesis in vascular endothelial cells. Therefore, this amino acid improves endothelial function and plays a role in the prevention and/or treatment of multiple cardiovascular diseases: atherosclerosis, hypertension, diabetes and so on. To determine the effects of three different protein matrices (250 g Fillet of Beef, FB; Chicken Raised on the Ground, CRG; Free-Range Chicken, FRC) with a known content of arginine on the cardiovascular workload, vascular compliance and urinary excretion of some parameters of endothelial function as TGF–Beta, NO (nitrate e nitrite) in a group of healthy volunteers. Materials and methods: We enrolled 10 men to study the behavior of Systolic, Diastolic, Mean, and Pulse Blood Pressure, of Vascular Resistances, of Macro and Micro Vascular Elasticity, of urinary excretion of TGF-β and Nitric Oxide as ratio of creatinine before and after two hours of each meal. The cardiovascular parameters are determined by HDI/Pulse Wave CR 2000 (Hypertension Diagnostic Inc, Eagan, MN); TGF-β is analysed by Elisa method (R&D Systems) and NO by colorimetric method (Cayman). Results and Conclusion: The protein meal packed with CRG causes a significant decrease in diastolic blood pressure mean pressure and vascular resistance in urinary excretion of TGF. FB resulted in a significant decrease in vascular resistance and urinary excretion of NO, while significantly increasing the Pulse Pressure, heart rate and urinary excretion of TGF-β. FRC resulted in a significant reduction of macrovascular elasticity; increase the urinary excretion of TGF and Pulse Pressure. We can conclude that CRG meat looks better both in terms of metabolic and cardiovascular load especially at endothelial level
The Challenge of Melanocytic Lesions in Pediatric Patients: Clinical-Pathological Findings and the Diagnostic Value of PRAME
Pediatric melanoma is a rare disease especially in children aged younger than 10 years old. Recent estimates report a rise of disease incidence in both adults and children. Diagnostic work-up is challenging in pediatric melanoma, as it displays a wide range of clinical presentations. Immunohistochemical biomarkers have been reported as predictors of malignancy in melanoma, however data specific to pediatric melanoma are poor. Our study aims to contribute to provide evidence of pediatric melanoma clinical features and differential diagnosis in this patient population. We describe our experience with a retrospective case series of pigmented skin lesions including malignant melanoma, atypical spitzoid tumor, and benign nevi in children and adolescents aged less than 16 years. We described the clinical and demographic characteristics of the cohort and evaluated the immunohistochemical expression of the PReferentially expressed Antigen in MElanoma (PRAME) for differential diagnosis of melanoma in children. The series displayed a similar distribution of melanoma between males and females, and the most common site of melanoma onset were the upper and lower limbs. In our cohort, PRAME was negative in most cases. Focal and slight positivity (from 1 to 5% of the neoplastic cells) was observed in four cases (two Spitz nevi and two atypical Spitz tumors). A moderate positivity in 25% of the neoplastic cells was observed in one case of atypical Spitz tumor. Immunohistochemical expression of PRAME might be useful in the differential diagnosis of malignant melanoma
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