41 research outputs found
Corrosion resistance of anodic layers grown on 304L stainless steel at different anodizing times and stirring speeds
Different chemical and physical treatments have been used to improve the properties and functionalities of steels. Anodizing is one of the most promising treatments, due to its versatility and easy industrial implementation. It allows the growth of nanoestructured oxide films with interesting properties able to be employed in different industrial sectors. The present work studies the influence of the anodizing time (15, 30, 45 and 60 min), as well as the stirring speed (0, 200, 400, and 600 rpm), on the morphology and the corrosion resistance of the anodic layers grown in 304L stainless steel. The anodic layers were characterized morphologically, compositionally, and electrochemically, in order to determine the influence of the anodization parameters on their corrosion behavior in a 0.6 mol L-1 NaCl solution. The results show that at 45 and 60 min anodizing times, the formation of two microstructures is favored, associated with the collapse of the nanoporous structures at the metal-oxide interphace. However, both the stirring speed and the anodizing time have a negligeable effect on the corrosion behavior of the anodized 304L SS samples, since their electrochemical values are similar to those of the non-anodized ones
Transcriptomic differences in MSA clinical variants
Background: Multiple system atrophy (MSA) is a rare oligodendroglial synucleinopathy of unknown etiopathogenesis including two major clinical variants with predominant parkinsonism (MSA-P) or cerebellar dysfunction (MSA-C). Objective: To identify novel disease mechanisms we performed a blood transcriptomic study investigating differential gene expression changes and biological process alterations in MSA and its clinical subtypes. Methods: We compared the transcriptome from rigorously gender and age-balanced groups of 10 probable MSA-P, 10 probable MSA-C cases, 10 controls from the Catalan MSA Registry (CMSAR), and 10 Parkinson Disease (PD) patients. Results: Gene set enrichment analyses showed prominent positive enrichment in processes related to immunity and inflammation in all groups, and a negative enrichment in cell differentiation and development of the nervous system in both MSA-P and PD, in contrast to protein translation and processing in MSA-C. Gene set enrichment analysis using expression patterns in different brain regions as a reference also showed distinct results between the different synucleinopathies. Conclusions: In line with the two major phenotypes described in the clinic, our data suggest that gene expression and biological processes might be differentially affected in MSA-P and MSA-C. Future studies using larger sample sizes are warranted to confirm these results
Sporadic Fatal Insomnia in Europe:Phenotypic features and diagnostic challenges
[Objective] Comprehensively describe the phenotypic spectrum of sporadic fatal insomnia (sFI) to facilitate diagnosis and management of this rare and peculiar prion disorder.[Methods] A survey among major prion disease reference centers in Europe identified 13 patients diagnosed with sFI in the past 20 years. We undertook a detailed analysis of clinical and histopathological features and the results of diagnostic investigations.[Results] Mean age at onset was 43 years, and mean disease duration 30 months. Early clinical findings included psychiatric, sleep, and oculomotor disturbances, followed by cognitive decline and postural instability. In all tested patients, video‐polysomnography demonstrated a severe reduction of total sleep time and/or a disorganized sleep. Cerebrospinal fluid (CSF) levels of proteins 14‐3‐3 and t‐tau were unrevealing, the concentration of neurofilament light protein (NfL) was more consistently increased, and the real‐time quaking‐induced conversion assay (RT‐QuIC) revealed a positive prion seeding activity in 60% of cases. Electroencephalography and magnetic resonance imaging showed nonspecific findings, whereas fluorodeoxyglucose positron emission tomography (FDG‐PET) demonstrated a profound bilateral thalamic hypometabolism in 71% of cases. Molecular analyses revealed PrPSc type 2 and methionine homozygosity at PRNP codon 129 in all cases.[Interpretation] sFI is a disease of young or middle‐aged adults, which is difficult to reconcile with the hypothesis of a spontaneous etiology related to stochastic, age‐related PrP misfolding. The combination of psychiatric and/or sleep‐related symptoms with oculomotor abnormalities represents an early peculiar clinical feature of sFI to be valued in the differential diagnosis. Video‐polysomnography, FDG‐PET, and especially CSF prion RT‐QuIC and NfL constitute the most promising supportive diagnostic tests in vivo.Peer reviewe
Clinical and structural brain correlates of hypomimia in early-stage Parkinson's disease
Altres ajuts: acord transformatiu CRUE-CSICBackground and purpose: Reduced facial expression of emotions is a very frequent symptom of Parkinson's disease (PD) and has been considered part of the motor features of the disease. However, the neural correlates of hypomimia and the relationship between hypomimia and other non-motor symptoms of PD are poorly understood. Methods: The clinical and structural brain correlates of hypomimia were studied. For this purpose, cross-sectional data from the COPPADIS study database were used. Age, disease duration, levodopa equivalent daily dose, Unified Parkinson's Disease Rating Scale part III (UPDRS-III), severity of apathy and depression and global cognitive status were collected. At the imaging level, analyses based on gray matter volume and cortical thickness were used. Results: After controlling for multiple confounding variables such as age or disease duration, the severity of hypomimia was shown to be indissociable from the UPDRS-III speech and bradykinesia items and was significantly related to the severity of apathy (β = 0.595; p < 0.0001). At the level of neural correlates, hypomimia was related to motor regions brodmann area 8 (BA 8) and to multiple fronto-temporo-parietal regions involved in the decoding, recognition and production of facial expression of emotions. Conclusion: Reduced facial expressivity in PD is related to the severity of symptoms of apathy and is mediated by the dysfunction of brain systems involved in motor control and in the recognition, integration and expression of emotions. Therefore, hypomimia in PD may be conceptualized not exclusively as a motor symptom but as a consequence of a multidimensional deficit leading to a symptom where motor and non-motor aspects converge
Nonmotor Symptoms in LRRK2 G2019S Associated Parkinson's Disease
BACKGROUND:
Idiopathic Parkinson's disease (IPD) and LRRK2-associated PD (LRRK2-PD) might be expected to differ clinically since the neuropathological substrate of LRRK2-PD is heterogeneous. The range and severity of extra-nigral nonmotor features associated with LRRK2 mutations is also not well-defined.
OBJECTIVE:
To evaluate the prevalence and time of onset of nonmotor symptoms (NMS) in LRRK2-PD patients.
METHODS:
The presence of hyposmia and of neuropsychiatric, dysautonomic and sleep disturbances was assessed in 33 LRRK2-G2019S-PD patients by standardized questionnaires and validated scales. Thirty-three IPD patients, matched for age, gender, duration of parkinsonism and disease severity and 33 healthy subjects were also evaluated.
RESULTS:
University of Pennsylvania Smell Identification Test (UPSIT) scores in LRRK2-G2019S-PD were higher than those in IPD (23.5±6.8 vs 18.4±6.0; p = 0.002), and hyposmia was less frequent in G2019S carriers than in IPD (39.4% vs 75.8%; p = 0.01). UPSIT scores were significantly higher in females than in males in LRRK2-PD patients (26.9±4.7 vs 19.4±6.8; p<0.01). The frequency of sleep and neuropsychiatric disturbances and of dysautonomic symptoms in LRRK2-G2019S-PD was not significantly different from that in IPD. Hyposmia, depression, constipation and excessive daytime sleepiness, were reported to occur before the onset of classical motor symptoms in more than 40% of LRRK2-PD patients in whom these symptoms were present at the time of examination.
CONCLUSION:
Neuropsychiatric, dysautonomic and sleep disturbances occur as frequently in patients with LRRK2-G2019S-PD as in IPD but smell loss was less frequent in LRRK2-PD. Like in IPD, disturbances such as hyposmia, depression, constipation and excessive daytime sleepiness may antedate the onset of classical motor symptoms in LRRK2-G2019S-PD
Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson\u27s disease study
\ua9 The Author(s) 2024. Estimates of the spectrum and frequency of pathogenic variants in Parkinson’s disease (PD) in different populations are currently limited and biased. Furthermore, although therapeutic modification of several genetic targets has reached the clinical trial stage, a major obstacle in conducting these trials is that PD patients are largely unaware of their genetic status and, therefore, cannot be recruited. Expanding the number of investigated PD-related genes and including genes related to disorders with overlapping clinical features in large, well-phenotyped PD patient groups is a prerequisite for capturing the full variant spectrum underlying PD and for stratifying and prioritizing patients for gene-targeted clinical trials. The Rostock Parkinson’s disease (ROPAD) study is an observational clinical study aiming to determine the frequency and spectrum of genetic variants contributing to PD in a large international cohort. We investigated variants in 50 genes with either an established relevance for PD or possible phenotypic overlap in a group of 12 580 PD patients from 16 countries [62.3% male; 92.0% White; 27.0% positive family history (FH+), median age at onset (AAO) 59 years] using a next-generation sequencing panel. Altogether, in 1864 (14.8%) ROPAD participants (58.1% male; 91.0% White, 35.5% FH+, median AAO 55 years), a PD-relevant genetic test (PDGT) was positive based on GBA1 risk variants (10.4%) or pathogenic/likely pathogenic variants in LRRK2 (2.9%), PRKN (0.9%), SNCA (0.2%) or PINK1 (0.1%) or a combination of two genetic findings in two genes (∼0.2%). Of note, the adjusted positive PDGT fraction, i.e. the fraction of positive PDGTs per country weighted by the fraction of the population of the world that they represent, was 14.5%. Positive PDGTs were identified in 19.9% of patients with an AAO ≤ 50 years, in 19.5% of patients with FH+ and in 26.9% with an AAO ≤ 50 years and FH+. In comparison to the idiopathic PD group (6846 patients with benign variants), the positive PDGT group had a significantly lower AAO (4 years, P = 9
7 10−34). The probability of a positive PDGT decreased by 3% with every additional AAO year (P = 1
7 10−35). Female patients were 22% more likely to have a positive PDGT (P = 3
7 10−4), and for individuals with FH+ this likelihood was 55% higher (P = 1
7 10−14). About 0.8% of the ROPAD participants had positive genetic testing findings in parkinsonism-, dystonia/dyskinesia- or dementia-related genes. In the emerging era of gene-targeted PD clinical trials, our finding that ∼15% of patients harbour potentially actionable genetic variants offers an important prospect to affected individuals and their families and underlines the need for genetic testing in PD patients. Thus, the insights from the ROPAD study allow for data-driven, differential genetic counselling across the spectrum of different AAOs and family histories and promote a possible policy change in the application of genetic testing as a routine part of patient evaluation and care in PD
Self-effects of tea CO2 laser radiation in NH3
Self-focusing and self-defocusing effects of CO2 laser radiation in ammonia gas for 10 R(14) and 9 R(16) laser lines are reported. Results are in agreement with data provided by classi cal dispersion theory. Effects originating from the addition of hexane as a buffer gas are discussed. © 1990.The authors wish to thank S. Femandez de Avila, P. Huertas, A. del Pino, M. Santos and C. Sigüenza for help and fruitful discussions.Peer Reviewe
Dependence of the unimolecular dissociation products on the fluence of the CO2 laser beam
The dissociation products of CF2Cl2 irradiated in the line P20 at 9.17 μm with pulses of fluence as high as 60×104 J.m-2 depend on the pressure of the gas, giving rise to C2F4 only when the pressure is of the order of 2 mb. Ar remarkably lower fluence ( 2×104 J.m-2) this product appears however in a wide range of pressures. For CF2HCl, C2F4 is the only product that appears at fluences as high as 60×104 J.m-2. At lower fluences ( 2.5×104 J.m-2, less C2F4 is produced and another product, probably a halogenated derivative of butane, is obtained. © 1986.Peer Reviewe
Small Flocks Show Higher Levels of Welfare in Mexican Semi-Intensive Sheep Farming Systems
In order to assess the level of sheep welfare in small traditional farms as compared with farms of increased size we evaluated several animal-based parameters and applied a modified Animal Needs Index (ANI) protocol in farms located in the North-East of the country. We selected ten sheep farms: 5 farms had less than 20 ewes per flock (Group L20), whereas 5 farms had more than 20 ewes per flock (Group M20). Based on the recordings performed using the ANI scheme Group L20 constantly showed higher scores as compared with Group M20. In Group M20 a higher proportion of animals was affected by skin and wool damages, low body condition, tail mutilation, ocular discharge, nasal discharge, diarrhoea (P < 0.05) and lameness (P < 0.01). We observed a higher percentage of non-anaemic animals in group L20 and a higher percentage of anaemic animals in Group M20 (P < 0.01). Although based on a small sample, our results showed that several animal-based measures were able to discriminate the two groups of farms with higher levels of animal welfare detected in small flocks