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| 2. |
- Klionsky, Daniel J., et al.
(författare)
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Guidelines for the use and interpretation of assays for monitoring autophagy
- 2012
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Ingår i: Autophagy. - : Informa UK Limited. - 1554-8635 .- 1554-8627. ; 8:4, s. 445-544
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Forskningsöversikt (refereegranskat)abstract
- In 2008 we published the first set of guidelines for standardizing research in autophagy. Since then, research on this topic has continued to accelerate, and many new scientists have entered the field. Our knowledge base and relevant new technologies have also been expanding. Accordingly, it is important to update these guidelines for monitoring autophagy in different organisms. Various reviews have described the range of assays that have been used for this purpose. Nevertheless, there continues to be confusion regarding acceptable methods to measure autophagy, especially in multicellular eukaryotes. A key point that needs to be emphasized is that there is a difference between measurements that monitor the numbers or volume of autophagic elements (e.g., autophagosomes or autolysosomes) at any stage of the autophagic process vs. those that measure flux through the autophagy pathway (i.e., the complete process); thus, a block in macroautophagy that results in autophagosome accumulation needs to be differentiated from stimuli that result in increased autophagic activity, defined as increased autophagy induction coupled with increased delivery to, and degradation within, lysosomes (in most higher eukaryotes and some protists such as Dictyostelium) or the vacuole (in plants and fungi). In other words, it is especially important that investigators new to the field understand that the appearance of more autophagosomes does not necessarily equate with more autophagy. In fact, in many cases, autophagosomes accumulate because of a block in trafficking to lysosomes without a concomitant change in autophagosome biogenesis, whereas an increase in autolysosomes may reflect a reduction in degradative activity. Here, we present a set of guidelines for the selection and interpretation of methods for use by investigators who aim to examine macroautophagy and related processes, as well as for reviewers who need to provide realistic and reasonable critiques of papers that are focused on these processes. These guidelines are not meant to be a formulaic set of rules, because the appropriate assays depend in part on the question being asked and the system being used. In addition, we emphasize that no individual assay is guaranteed to be the most appropriate one in every situation, and we strongly recommend the use of multiple assays to monitor autophagy. In these guidelines, we consider these various methods of assessing autophagy and what information can, or cannot, be obtained from them. Finally, by discussing the merits and limits of particular autophagy assays, we hope to encourage technical innovation in the field.
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| 3. |
- Brandsma, Rick, et al.
(författare)
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Diagnostic approach to paediatric movement disorders : a clinical practice guide
- 2021
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Ingår i: Developmental Medicine and Child Neurology. - : Wiley. - 0012-1622 .- 1469-8749. ; 63:3, s. 252-258
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Tidskriftsartikel (refereegranskat)abstract
- Paediatric movement disorders (PMDs) comprise a large group of disorders (tics, myoclonus, tremor, dystonia, chorea, Parkinsonism, ataxia), often with mixed phenotypes. Determination of the underlying aetiology can be difficult given the broad differential diagnosis and the complexity of the genotype–phenotype relationships. This can make the diagnostic process time-consuming and difficult. In this overview, we present a diagnostic approach for PMDs, with emphasis on genetic causes. This approach can serve as a framework to lead the clinician through the diagnostic process in eight consecutive steps, including recognition of the different movement disorders, identification of a clinical syndrome, consideration of acquired causes, genetic testing including next-generation sequencing, post-sequencing phenotyping, and interpretation of test results. The aim of this approach is to increase the recognition and diagnostic yield in PMDs. What this paper adds: An up-to-date description and diagnostic framework for testing of paediatric movement disorders is presented. The framework helps to determine which patients will benefit from next-generation sequencing.
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| 6. |
- Biollaz, S., et al.
(författare)
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Gas analysis in gasification of biomass and waste : Guideline report: Document 1
- 2018
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Rapport (refereegranskat)abstract
- Gasification is generally acknowledged as one of the technologies that will enable the large-scale production of biofuels and chemicals from biomass and waste. One of the main technical challenges associated to the deployment of biomass gasification as a commercial technology is the cleaning and upgrading of the product gas. The contaminants of product gas from biomass/waste gasification include dust, tars, alkali metals, BTX, sulphur-, nitrogen- and chlorine compounds, and heavy metals. Proper measurement of the components and contaminants of the product gas is essential for the monitoring of gasification-based plants (efficiency, product quality, by-products), as well as for the proper design of the downstream gas cleaning train (for example, scrubbers, sorbents, etc.). In practice, a trade-off between reliability, accuracy and cost has to be reached when selecting the proper analysis technique for a specific application. The deployment and implementation of inexpensive yet accurate gas analysis techniques to monitor the fate of gas contaminants might play an important role in the commercialization of biomass and waste gasification processes.This special report commissioned by the IEA Bioenergy Task 33 group compiles a representative part of the extensive work developed in the last years by relevant actors in the field of gas analysis applied to(biomass and waste) gasification. The approach of this report has been based on the creation of a team of contributing partners who have supplied material to the report. This networking approach has been complemented with a literature review. The report is composed of a set of 2 documents. Document 1(the present report) describes the available analysis techniques (both commercial and underdevelopment) for the measurement of different compounds of interest present in gasification gas. The objective is to help the reader to properly select the analysis technique most suitable to the target compounds and the intended application. Document 1 also describes some examples of application of gas analysis at commercial-, pilot- and research gasification plants, as well as examples of recent and current joint research activities in the field. The information contained in Document 1 is complemented with a book of factsheets on gas analysis techniques in Document 2, and a collection of video blogs which illustrate some of the analysis techniques described in Documents 1 and 2.This guideline report would like to become a platform for the reinforcement of the network of partners working on the development and application of gas analysis, thus fostering collaboration and exchange of knowledge. As such, this report should become a living document which incorporates in future coming progress and developments in the field.
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| 7. |
- Biollaz, S., et al.
(författare)
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Gas analysis in gasification of biomass and waste : Guideline report: Document 2 - Factsheets on gas analysis techniques
- 2018
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Rapport (refereegranskat)abstract
- Gasification is generally acknowledged as one of the technologies that will enable the large-scale production of biofuels and chemicals from biomass and waste. One of the main technical challenges associated to the deployment of biomass gasification as a commercial technology is the cleaning and upgrading of the product gas. The contaminants of product gas from biomass/waste gasification include dust, tars, alkali metals, BTX, sulphur-, nitrogen- and chlorine compounds, and heavy metals. Proper measurement of the components and contaminants of the product gas is essential for the monitoring of gasification-based plants (efficiency, product quality, by-products), as well as for the proper design of the downstream gas cleaning train (for example, scrubbers, sorbents, etc.). The deployment and implementation of inexpensive yet accurate gas analysis techniques to monitor the fate of gas contaminants might play an important role in the commercialization of biomass and waste gasification processes.This special report commissioned by the IEA Bioenergy Task 33 group compiles a representative part of the extensive work developed in the last years by relevant actors in the field of gas analysis applied to (biomass and waste) gasification. The approach of this report has been based on the creation of a team of contributing partners who have supplied material to the report. This networking approach has been complemented with a literature review. This guideline report would like to become a platform for the reinforcement of the network of partners working on the development and application of gas analysis, thus fostering collaboration and exchange of knowledge. As such, this report should become a living document which incorporates in future coming progress and developments in the field.
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| 9. |
- Koens, Lisette H, et al.
(författare)
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A Screening Tool to Quickly Identify Movement Disorders in Patients with Inborn Errors of Metabolism
- 2023
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Ingår i: Movement Disorders. - : Wiley. - 0885-3185 .- 1531-8257. ; 38:4, s. 646-653
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Movement disorders are frequent in patients with inborn errors of metabolism (IEMs) but poorly recognized, particularly by nonmovement disorder specialists. We propose an easy-to-use clinical screening tool to help recognize movement disorders.OBJECTIVE: The aim is to develop a user-friendly rapid screening tool for nonmovement disorder specialists to detect moderate and severe movement disorders in patients aged ≥4 years with IEMs.METHODS: Videos of 55 patients with different IEMs were scored by experienced movement disorder specialists (n = 12). Inter-rater agreements were determined on the presence and subtype of the movement disorder. Based on ranking and consensus, items were chosen to be incorporated into the screening tool.RESULTS: A movement disorder was rated as present in 80% of the patients, with a moderate inter-rater agreement (κ =0.420, P < 0.001) on the presence of a movement disorder. When considering only moderate and severe movement disorders, the inter-rater agreement increased to almost perfect (κ = 0.900, P < 0.001). Dystonia was most frequently scored (27.3%) as the dominant phenotype. Treatment was mainly suggested for patients with moderate or severe movement disorders. Walking, observations of the arms, and drawing a spiral were found to be the most informative tasks and were included in the screening tool.CONCLUSIONS: We designed a screening tool to recognize movement disorders in patients with IEMs. We propose that this screening tool can contribute to select patients who should be referred to a movement disorder specialist for further evaluation and, if necessary, treatment of the movement disorder. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
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| 10. |
- McLachlan, Michael S., et al.
(författare)
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Concentrations and Fate of Decamethylcyclopentasiloxane (D-5) in the Atmosphere
- 2010
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Ingår i: Environmental Science and Technology. - : American Chemical Society (ACS). - 0013-936X .- 1520-5851. ; 44:14, s. 5365-5370
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Tidskriftsartikel (refereegranskat)abstract
- Decamethylcyclopentasiloxane (D-5) is a volatile compound used in personal care products that is released to the atmosphere in large quantities. Although D-5 is currently under consideration for regulation, there have been no field investigations of its atmospheric fate. We employed a recently developed, quality assured method to measure D-5 concentration in ambient air at a rural site in Sweden. The samples were collected with daily resolution between January and June 2009. The 05 concentration ranged from 0.3 to 9 ng m(-3), which is 1-3 orders of magnitude lower than previous reports. The measured data were compared with D-5 concentrations predicted using an atmospheric circulation model that included both OH radical and D-5 chemistry. The model was parametrized using emissions estimates and physical chemical properties determined in laboratory experiments. There was good agreement between the measured and modeled D-5 concentrations. The results show that D-5 is clearly subject to long-range atmospheric transport, but that it is also effectively removed from the atmosphere via phototransformation. Atmospheric deposition has little influence on the atmospheric fate. The good agreement between the model predictions and the field observations indicates that there is a good understanding of the major factors governing D-5 concentrations in the atmosphere.
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| 11. |
- Polet, Sjoukje S., et al.
(författare)
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A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients
- 2020
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Ingår i: Parkinsonism and Related Disorders. - : Elsevier BV. - 1353-8020. ; 72, s. 44-48
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Tidskriftsartikel (refereegranskat)abstract
- Introduction: In 2011, a homozygous mutation in GOSR2 (c.430G > T; p. Gly144Trp) was reported as a novel cause of Progressive Myoclonus Epilepsy (PME) with early-onset ataxia. Interestingly, the ancestors of patients originate from countries bound to the North Sea, hence the condition was termed North Sea PME (NSPME). Until now, only 20 patients have been reported in literature. Here, we provide a detailed description of clinical and neurophysiological data of seventeen patients. Methods: We collected clinical and neurophysiological data from the medical records of seventeen NSPME patients (5–46 years). In addition, we conducted an interview focused on factors influencing myoclonus severity. Results: The core clinical features of NSPME are early-onset ataxia, myoclonus and seizures, with additionally areflexia and scoliosis. Factors such as fever, illness, heat, emotions, stress, noise and light (flashes) all exacerbated myoclonic jerks. Epilepsy severity ranged from the absence of or incidental clinical seizures to frequent daily seizures and status epilepticus. Some patients made use of a wheelchair during their first decade, whereas others still walked independently during their third decade. Neurophysiological features suggesting neuromuscular involvement in NSPME were variable, with findings ranging from indicative of sensory neuronopathy and anterior horn cell involvement to an isolated absent H-reflex. Conclusion: Although the sequence of symptoms is rather homogeneous, the severity of symptoms and rate of progression varied considerably among individual patients. Common triggers for myoclonus can be identified and myoclonus is difficult to treat; to what extent neuromuscular involvement contributes to the phenotype remains to be further elucidated.
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| 12. |
- Rångtell, Frida H., et al.
(författare)
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Learning performance is linked to procedural memory consolidation across both sleep and wakefulness
- 2017
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Ingår i: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 7
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Tidskriftsartikel (refereegranskat)abstract
- We investigated whether learning performance in a procedural finger tapping task before nocturnal sleep would predict performance gains after sleep in 60 young adults. Gains were defined as change in correctly tapped digit sequences between learning (12 trials administered in the evening) and retesting (3 trials administered in the morning after sleep). The same task was also administered to a separate wake group (N = 54 young adults), which learned in the morning and was retested in the evening. Learning performance was determined by either using the average performance on the last three learning trials or the average performance on the best three learning trials. Our results demonstrated an inverse association between learning performance and gains in procedural skill, i.e., good learners exhibited smaller performance gains across both wakefulness and sleep than poor learners. Regardless of learning performance, gains in finger tapping skills were greater after sleep than daytime wakefulness. Importantly, some of our findings were influenced by how learning performance was estimated. Collectively, these results suggest that learning performance and the method through which it is estimated may influence performance gains in finger tapping skills across both sleep and wakefulness.
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| 13. |
- Rångtell, Frida H, et al.
(författare)
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Praise and competence-based self-esteem alter offline gains in motor skills
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Annan publikation (övrigt vetenskapligt/konstnärligt)abstract
- Monetary reward and video-based praise following training of a motor skill result in greater gains in the skill. Whether this could also be achieved by text-only praise after learning is unclear. Neither is it known whether the effects of praise on subsequent consolidation of motor memories depend on the learner’s competence-based self-esteem. A high competence-based self-esteem is defined by one’s abilities, constituting a fragile basis for feelings of self-worth, and correlates with a lower intrinsic self-esteem.In the present study, seventy-eight subjects performed a motor task where they tapped a digit sequence (on a laptop) as fast and accurate as possible at three separate sessions: learning (scheduled in the evening on the training day), short-term recall (12 hours later), and long-term recall (~30 days later). Immediately after learning, all participants of the PRAISE group (n=39) were given a text praise, whereas those of the NO PRAISE group were not. Our results demonstrate that praise overall resulted in greater post-training gains in finger skill compared with no praise (P<0.05, ~ +6%). We also found that those with low scores on the competence-based self-esteem scale (i.e., likely to have a high intrinsic self-esteem) showed more pronounced post-training gains in finger skill than those with higher scores (P<0.05). However, competence-based self-esteem did not change the effect of praise on offline gains in finger skill (P>0.05). If confirmed by future studies, our findings could suggest that praise and a person’s self-esteem can contribute to variance in post-training improvements of motor skill.
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