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| 2. |
- Abolhassani, H, et al.
(författare)
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Care of patients with inborn errors of immunity in thirty J Project countries between 2004 and 2021
- 2022
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Ingår i: Frontiers in immunology. - : Frontiers Media SA. - 1664-3224. ; 13, s. 1032358-
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Tidskriftsartikel (refereegranskat)abstract
- The J Project (JP) physician education and clinical research collaboration program was started in 2004 and includes by now 32 countries mostly in Eastern and Central Europe (ECE). Until the end of 2021, 344 inborn errors of immunity (IEI)-focused meetings were organized by the JP to raise awareness and facilitate the diagnosis and treatment of patients with IEI.ResultsIn this study, meeting profiles and major diagnostic and treatment parameters were studied. JP center leaders reported patients’ data from 30 countries representing a total population of 506 567 565. Two countries reported patients from JP centers (Konya, Turkey and Cairo University, Egypt). Diagnostic criteria were based on the 2020 update of classification by the IUIS Expert Committee on IEI. The number of JP meetings increased from 6 per year in 2004 and 2005 to 44 and 63 in 2020 and 2021, respectively. The cumulative number of meetings per country varied from 1 to 59 in various countries reflecting partly but not entirely the population of the respective countries. Altogether, 24,879 patients were reported giving an average prevalence of 4.9. Most of the patients had predominantly antibody deficiency (46,32%) followed by patients with combined immunodeficiencies (14.3%). The percentages of patients with bone marrow failure and phenocopies of IEI were less than 1 each. The number of patients was remarkably higher that those reported to the ESID Registry in 13 countries. Immunoglobulin (IgG) substitution was provided to 7,572 patients (5,693 intravenously) and 1,480 patients received hematopoietic stem cell therapy (HSCT). Searching for basic diagnostic parameters revealed the availability of immunochemistry and flow cytometry in 27 and 28 countries, respectively, and targeted gene sequencing and new generation sequencing was available in 21 and 18 countries. The number of IEI centers and experts in the field were 260 and 690, respectively. We found high correlation between the number of IEI centers and patients treated with intravenous IgG (IVIG) (correlation coefficient, cc, 0,916) and with those who were treated with HSCT (cc, 0,905). Similar correlation was found when the number of experts was compared with those treated with HSCT. However, the number of patients treated with subcutaneous Ig (SCIG) only slightly correlated with the number of experts (cc, 0,489) and no correlation was found between the number of centers and patients on SCIG (cc, 0,174).Conclusions1) this is the first study describing major diagnostic and treatment parameters of IEI care in countries of the JP; 2) the data suggest that the JP had tremendous impact on the development of IEI care in ECE; 3) our data help to define major future targets of JP activity in various countries; 4) we suggest that the number of IEI centers and IEI experts closely correlate to the most important treatment parameters; 5) we propose that specialist education among medical professionals plays pivotal role in increasing levels of diagnostics and adequate care of this vulnerable and still highly neglected patient population; 6) this study also provides the basis for further analysis of more specific aspects of IEI care including genetic diagnostics, disease specific prevalence, newborn screening and professional collaboration in JP countries.
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| 10. |
- Casar Borota, Olivera, et al.
(författare)
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Corticotroph Aggressive Pituitary Tumors and Carcinomas Frequently Harbor ATRX Mutations
- 2021
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Ingår i: Journal of Clinical Endocrinology & Metabolism. - : The Endocrine Society. - 0021-972X .- 1945-7197. ; 106:4, s. 1183-1194
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Tidskriftsartikel (refereegranskat)abstract
- Context: Aggressive pituitary tumors (APTs) are characterized by unusually rapid growth and lack of response to standard treatment. About 1% to 2% develop metastases being classified as pituitary carcinomas (PCs). For unknown reasons, the corticotroph tumors are overrepresented among APTs and PCs. Mutations in the alpha thalassemia/mental retardation syndrome X-linked (ATRX) gene, regulating chromatin remodeling and telomere maintenance, have been implicated in the development of several cancer types, including neuroendocrine tumors. Objective: To study ATRX protein expression and mutational status of the ATRX gene in APTs and PCs. Design: We investigated ATRX protein expression by using immunohistochemistry in 30 APTs and 18 PCs, mostly of Pit-1 and T-Pit cell lineage. In tumors lacking ATRX immunolabeling, mutational status of the ATRX gene was explored. Results: Nine of the 48 tumors (19%) demonstrated lack of ATRX immunolabelling with a higher proportion in patients with PCs (5/18; 28%) than in those with APTs (4/30;13%). Lack of ATRX was most common in the corticotroph tumors, 7/22 (32%), versus tumors of the Pit-1 lineage, 2/24 (8%). Loss-of-function ATRX mutations were found in all 9 ATRX immunonegative cases: nonsense mutations (n = 4), frameshift deletions (n = 4), and large deletions affecting 22-28 of the 36 exons (n = 3). More than 1 ATRX gene defect was identified in 2 PCs. Conclusion: ATRX mutations occur in a subset of APTs and are more common in corticotroph tumors. The findings provide a rationale for performing ATRX immunohistochemistry to identify patients at risk of developing aggressive and potentially metastatic pituitary tumors.
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| 13. |
- Picetti, Edoardo, et al.
(författare)
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Early management of adult traumatic spinal cord injury in patients with polytrauma : a consensus and clinical recommendations jointly developed by the World Society of Emergency Surgery (WSES) & the European Association of Neurosurgical Societies (EANS)
- 2024
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Ingår i: World Journal of Emergency Surgery. - : BioMed Central (BMC). - 1749-7922. ; 19
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Tidskriftsartikel (refereegranskat)abstract
- Background: The early management of polytrauma patients with traumatic spinal cord injury (tSCI) is a major challenge. Sparse data is available to provide optimal care in this scenario and worldwide variability in clinical practice has been documented in recent studies.Methods: A multidisciplinary consensus panel of physicians selected for their established clinical and scientific expertise in the acute management of tSCI polytrauma patients with different specializations was established. The World Society of Emergency Surgery (WSES) and the European Association of Neurosurgical Societies (EANS) endorsed the consensus, and a modified Delphi approach was adopted.Results: A total of 17 statements were proposed and discussed. A consensus was reached generating 17 recommendations (16 strong and 1 weak).Conclusions: This consensus provides practical recommendations to support a clinician's decision making in the management of tSCI polytrauma patients.
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| 14. |
- Smedsrud, P. H., et al.
(författare)
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Kvasir-Capsule, a video capsule endoscopy dataset
- 2021
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Ingår i: Scientific Data. - : Springer Science and Business Media LLC. - 2052-4463. ; 8:1
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Tidskriftsartikel (refereegranskat)abstract
- Artificial intelligence (AI) is predicted to have profound effects on the future of video capsule endoscopy (VCE) technology. The potential lies in improving anomaly detection while reducing manual labour. Existing work demonstrates the promising benefits of AI-based computer-assisted diagnosis systems for VCE. They also show great potential for improvements to achieve even better results. Also, medical data is often sparse and unavailable to the research community, and qualified medical personnel rarely have time for the tedious labelling work. We present Kvasir-Capsule, a large VCE dataset collected from examinations at a Norwegian Hospital. Kvasir-Capsule consists of 117 videos which can be used to extract a total of 4,741,504 image frames. We have labelled and medically verified 47,238 frames with a bounding box around findings from 14 different classes. In addition to these labelled images, there are 4,694,266 unlabelled frames included in the dataset. The Kvasir-Capsule dataset can play a valuable role in developing better algorithms in order to reach true potential of VCE technology.
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| 15. |
- Tokarew, JM, et al.
(författare)
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Age-associated insolubility of parkin in human midbrain is linked to redox balance and sequestration of reactive dopamine metabolites
- 2021
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Ingår i: Acta neuropathologica. - : Springer Science and Business Media LLC. - 1432-0533 .- 0001-6322. ; 141:5, s. 725-754
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Tidskriftsartikel (refereegranskat)abstract
- The mechanisms by which parkin protects the adult human brain from Parkinson disease remain incompletely understood. We hypothesized that parkin cysteines participate in redox reactions and that these are reflected in its posttranslational modifications. We found that in post mortem human brain, including in the Substantia nigra, parkin is largely insoluble after age 40 years; this transition is linked to its oxidation, such as at residues Cys95 and Cys253. In mice, oxidative stress induces posttranslational modifications of parkin cysteines that lower its solubility in vivo. Similarly, oxidation of recombinant parkin by hydrogen peroxide (H2O2) promotes its insolubility and aggregate formation, and in exchange leads to the reduction of H2O2. This thiol-based redox activity is diminished by parkin point mutants, e.g., p.C431F and p.G328E. In prkn-null mice, H2O2 levels are increased under oxidative stress conditions, such as acutely by 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine toxin exposure or chronically due to a second, genetic hit; H2O2 levels are also significantly increased in parkin-deficient human brain. In dopamine toxicity studies, wild-type parkin, but not disease-linked mutants, protects human dopaminergic cells, in part through lowering H2O2. Parkin also neutralizes reactive, electrophilic dopamine metabolites via adduct formation, which occurs foremost at the primate-specific residue Cys95. Further, wild-type but not p.C95A-mutant parkin augments melanin formation in vitro. By probing sections of adult, human midbrain from control individuals with epitope-mapped, monoclonal antibodies, we found specific and robust parkin reactivity that co-localizes with neuromelanin pigment, frequently within LAMP-3/CD63+ lysosomes. We conclude that oxidative modifications of parkin cysteines are associated with protective outcomes, which include the reduction of H2O2, conjugation of reactive dopamine metabolites, sequestration of radicals within insoluble aggregates, and increased melanin formation. The loss of these complementary redox effects may augment oxidative stress during ageing in dopamine-producing cells of mutant PRKN allele carriers, thereby enhancing the risk of Parkinson’s-linked neurodegeneration.
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- Harrysson, Hanna, 1987, et al.
(författare)
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Effect of storage conditions on lipid oxidation, nutrient loss and colour of dried seaweeds, Porphyra umbilicalis and Ulva fenestrata, subjected to different pretreatments
- 2021
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Ingår i: Algal Research. - : Elsevier BV. - 2211-9264. ; 56
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Tidskriftsartikel (refereegranskat)abstract
- Here we evaluated the levels of lipid oxidation products, fatty acids, ascorbic acid and colour of Porphyra and Ulva after oven-drying at 40 degrees C, and during subsequent storage for >= 370 days under light, semi-light and dark conditions. Part of the seaweed was pre-soaked in freshwater or pre-coated with a whey protein mixture. Controls consisted of freeze-dried seaweeds. Throughout storage there was a moderate development of the lipid oxidation-derived aldehydes, malondialdehyde, 4-hydroxy-trans-2-hexenal and 4-hydroxy-trans-2-nonenal, while there was a great loss of unsaturated fatty acids and ascorbic acid. Light storage and freeze-drying stimulated the fatty acid loss as well as pigment bleaching, seen as increased a*-values. For Ulva, the coating reduced malondialdehyde, 4-hydroxy-trans-2-hexenal and 4-hydroxy-trans-2-nonenal formation during drying and slightly prevented loss of polyunsaturated fatty acids during light storage. Pre-soaking in freshwater had no effect on the seaweed stability, although it reduced the ash content and thereby increased the relative content of ascorbic acid and fatty acids of the biomasses.
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| 18. |
- Hollandi, R., et al.
(författare)
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nucleAIzer : A Parameter-free Deep Learning Framework for Nucleus Segmentation Using Image Style Transfer
- 2020
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Ingår i: Cell Systems. - : Elsevier BV. - 2405-4712. ; 10:5, s. 453-458.e6
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Tidskriftsartikel (refereegranskat)abstract
- Single-cell segmentation is typically a crucial task of image-based cellular analysis. We present nucleAIzer, a deep-learning approach aiming toward a truly general method for localizing 2D cell nuclei across a diverse range of assays and light microscopy modalities. We outperform the 739 methods submitted to the 2018 Data Science Bowl on images representing a variety of realistic conditions, some of which were not represented in the training data. The key to our approach is that during training nucleAIzer automatically adapts its nucleus-style model to unseen and unlabeled data using image style transfer to automatically generate augmented training samples. This allows the model to recognize nuclei in new and different experiments efficiently without requiring expert annotations, making deep learning for nucleus segmentation fairly simple and labor free for most biological light microscopy experiments. It can also be used online, integrated into CellProfiler and freely downloaded at www.nucleaizer.org. A record of this paper's transparent peer review process is included in the Supplemental Information. Microscopy image analysis of single cells can be challenging but also eased and improved. We developed a deep learning method to segment cell nuclei. Our strategy is adapting to unexpected circumstances automatically by synthesizing artificial microscopy images in such a domain as training samples.
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| 19. |
- Mainas, G, et al.
(författare)
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Associations between Periodontitis, COVID-19, and Cardiometabolic Complications: Molecular Mechanisms and Clinical Evidence
- 2023
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Ingår i: Metabolites. - : MDPI AG. - 2218-1989. ; 13:1
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Tidskriftsartikel (refereegranskat)abstract
- Periodontitis is a microbially driven, host-mediated disease that leads to loss of periodontal attachment and resorption of bone. It is associated with the elevation of systemic inflammatory markers and with the presence of systemic comorbidities. Coronavirus disease 2019 (COVID-19) is a contagious disease caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Although the majority of patients have mild symptoms, others experience important complications that can lead to death. After the spread of the COVID-19 pandemic, several investigations demonstrating the possible relationship between periodontitis and COVID-19 have been reported. In addition, both periodontal disease and COVID-19 seem to provoke and/or impair several cardiometabolic complications such as cardiovascular disease, type 2 diabetes, metabolic syndrome, dyslipidemia, insulin resistance, obesity, non-alcoholic fatty liver disease, and neurological and neuropsychiatric complications. Therefore, due to the increasing number of investigations focusing on the periodontitis-COVID-19 relationship and considering the severe complications that such an association might cause, this review aims to summarize all existing emerging evidence regarding the link between the periodontitis-COVID-19 axis and consequent cardiometabolic impairments.
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| 21. |
- Mondello, Stefania, et al.
(författare)
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Circulating brain injury exosomal proteins following Moderate-to-Severe traumatic brain injury : temporal profile, outcome prediction and therapy implications
- 2020
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Ingår i: Cells. - : MDPI. - 2073-4409. ; 9:4
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Tidskriftsartikel (refereegranskat)abstract
- Brain injury exosomal proteins are promising blood biomarker candidates in traumatic brain injury (TBI). A better understanding of their role in the diagnosis, characterization, and management of TBI is essential for upcoming clinical implementation. In the current investigation, we aimed to explore longitudinal trajectories of brain injury exosomal proteins in blood of patients with moderate-to-severe TBI, and to evaluate the relation with the free-circulating counterpart and patient imaging and clinical parameters. Exosomal levels of glial (glial fibrillary acidic protein (GFAP)) and neuronal/axonal (ubiquitin carboxy-terminal hydrolase L1 (UCH-L1), neurofilament light chain (NFL), and total-tau (t-tau)) proteins were measured in serum of 21 patients for up 5 days after injury using single molecule array (Simoa) technology. Group-based trajectory analysis was used to generate distinct temporal exosomal biomarker profiles. We found altered profiles of serum brain injury exosomal proteins following injury. The dynamics and levels of exosomal and related free-circulating markers, although correlated, showed differences. Patients with diffuse injury displayed higher acute exosomal NFL and GFAP concentrations in serum than those with focal lesions. Exosomal UCH-L1 profile characterized by acutely elevated values and a secondary steep rise was associated with early mortality (n = 2) with a sensitivity and specificity of 100%. Serum brain injury exosomal proteins yielded important diagnostic and prognostic information and represent a novel means to unveil underlying pathophysiology in patients with moderate-to-severe TBI. Our findings support their utility as potential tools to improve patient phenotyping in clinical practice and therapeutic trials.
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| 22. |
- Nagy, D, et al.
(författare)
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Cardiac Amyloidosis with Normal Wall Thickness: Prevalence, Clinical Characteristics and Outcome in a Retrospective Analysis
- 2022
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Ingår i: Biomedicines. - : MDPI AG. - 2227-9059. ; 10:7
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Tidskriftsartikel (refereegranskat)abstract
- Background: Cardiac amyloidosis (CA) is a rare, progressive, infiltrative cardiac disease. Light chain (AL) and transthyretin (ATTR) amyloidosis are in the background in almost all cases. New, easily available diagnostic tools and recently introduced novel therapies for both types of CA put this disease into the field of interest. Increased left ventricular wall thickness (IWT) detected by echocardiography is generally thought to be a necessary part of the diagnosis. We aimed to determine the proportion of CA patients without IWT, and to define the clinical characteristics of this cohort. Methods: In an academic tertiary center for CA, we identified patients diagnosed and treated for CA between January 2009 and February 2022. In a retrospective analysis we defined the proportion of patients with (≥12 mm) and without (<12 mm) IWT, and described their clinical features. Results: We identified 98 patients suitable for the analysis. In total, 70 had AL and 27 ATTR CA; 89 patients had CA with IWT and 9 patients (9%) had CA without IWT. All non-IWT patients had AL type CA. Both group of patients had clinically significant disease, which is supported by the relevant elevation in cardiac biomarker levels. There was no difference between the outcome of the two groups. Conclusion: Patients without IWT form a relevant subgroup among those with CA. Our results suggest that diagnostic algorithms and criteria should take these individuals into consideration, and, therefore, give them access to effective treatments.
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| 24. |
- Petropoulos, Fotios, et al.
(författare)
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Operational Research : methods and applications
- 2024
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Ingår i: Journal of the Operational Research Society. - : Taylor & Francis Group. - 0160-5682 .- 1476-9360. ; 75:3, s. 423-617
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Forskningsöversikt (refereegranskat)abstract
- Throughout its history, Operational Research has evolved to include methods, models and algorithms that have been applied to a wide range of contexts. This encyclopedic article consists of two main sections: methods and applications. The first summarises the up-to-date knowledge and provides an overview of the state-of-the-art methods and key developments in the various subdomains of the field. The second offers a wide-ranging list of areas where Operational Research has been applied. The article is meant to be read in a nonlinear fashion and used as a point of reference by a diverse pool of readers: academics, researchers, students, and practitioners. The entries within the methods and applications sections are presented in alphabetical order. The authors dedicate this paper to the 2023 Turkey/Syria earthquake victims. We sincerely hope that advances in OR will play a role towards minimising the pain and suffering caused by this and future catastrophes.
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| 27. |
- Spada, Cristiano, et al.
(författare)
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Factors Associated with Polyp Detection Rate in European Colonoscopy Practice : Findings of The European Colonoscopy Quality Investigation (ECQI) Group
- 2022
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Ingår i: International Journal of Environmental Research and Public Health. - : MDPI AG. - 1661-7827 .- 1660-4601. ; 19:6
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Tidskriftsartikel (refereegranskat)abstract
- Background: The European Colonoscopy Quality Investigation (ECQI) Group aims to raise awareness for improvement in colonoscopy standards across Europe. We analysed data collected on a sample of procedures conducted across Europe to evaluate the achievement of the polyp detection rate (PDR) target. We also investigated factors associated with PDR, in the hope of establishing areas that could lead to a quality improvement. Methods: 6445 form completions from 12 countries between 2 June 2016 and 30 April 2018 were considered for this analysis. We performed an exploratory analysislooking at PDR according to European Society of Gastrointestinal Endoscopy (ESGE) definition. Stepwise multivariable logistic regression analysis was conducted to determine the most influential associated factors after adjusting for the other pre-specified variables. Results: In our sample therewere 3365 screening and diagnostic procedures performed in those over 50 years. The PDR was 40.5%, which is comparable with the ESGE minimum standard of 40%. The variables found to be associated with PDR were in descending order: Use of high-definition equipment, body mass index (BMI), patient gender, age group, and the reason for the procedure. Use of HD equipment was associated with a significant increase in the reporting of flat lesions (14.3% vs. 5.7%, p < 0.0001) and protruded lesions (34.7% vs. 25.4%, p < 0.0001). Conclusions: On average, the sample of European practice captured by the ECQI survey meets the minimum PDR standard set by the ESGE. Our findings support the ESGE recommendation for routine use of HD colonoscopy.
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| 28. |
- Spada, Cristiano, et al.
(författare)
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Factors Associated with Withdrawal Time in European Colonoscopy Practice : Findings of the European Colonoscopy Quality Investigation (ECQI) Group
- 2022
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Ingår i: Diagnostics. - : MDPI AG. - 2075-4418. ; 12:2
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Tidskriftsartikel (refereegranskat)abstract
- The European Colonoscopy Quality Investigation (ECQI) Group aims to raise awareness for improvement in colonoscopy standards across Europe. We analyzed data collected on a sample of procedures conducted across Europe to evaluate the achievement of the European Society of Gastrointestinal Endoscopy (ESGE) mean withdrawal time (WT) target. We also investigated factors associated with WT, in the hope of establishing areas that could lead to a quality improvement. Methods: 6445 form completions from 12 countries between 2 June 2016 and 30 April 2018 were considered for this analysis. We performed an exploratory analysis looking at WT according to the ESGE definition. Stepwise multivariable logistic regression analysis was conducted to determine the most influential associated factors after adjusting for the other pre-specified variables. Results: In 1150 qualifying colonoscopies, the mean WT was 7.8 min. Stepwise analysis, including 587 procedures where all inputs were known, found that the variables most associated with mean WT were a previous total colonoscopy in the last five years (p = 0.0011) and the time of day the colonoscopy was performed (p = 0.0192). The main factor associated with a WT < 6 min was the time of day that a colonoscopy was performed. Use of sedation was the main factor associated with a higher propor-tion of WT > 10 min, along with a previous colonoscopy. Conclusions: On average, the sample of European practice captured by the ECQI survey met the minimum standard set by the ESGE. How-ever, there was variation and potential for improvement.
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- Tóth, L., et al.
(författare)
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Traumás gerincvelősérültek rehabilitációja alsó végtagi humán exoskeletonnal : [Rehabilitation of traumatic spinal cord injury with lower limb exoskeleton]
- 2020
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Ingår i: Orvosti Hetilap. - : Akadémiai Kiadó. - 0030-6002 .- 1788-6120. ; 161:29, s. 1200-1207
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Forskningsöversikt (refereegranskat)abstract
- In recent years, several technological innovations have emerged to improve the rehabilitation of traumatic spinal cord injury (SCI). Among them, robotic orthosis, also known as human exoskeletons, are prominent devices for lower limb therapy. Since the early 2000s, numerous clinical studies have begun to investigate the efficacy of these devices, demonstrating the beneficial effects of exoskeletons regarding the prevention and deceleration of the progression of complications following spinal cord injury and subsequent immobilization. Previous works also deal with physiological, psycho-social and social effects, and presents possible risk factors following SCI. In this paper, the main results of the relevant international research is reviewed, the structure and operation of the first devices (ReWalk (TM) P6.0) in Hungary are presented, also, the main modalities of robotic assisted rehabilitation activity at international level are demonstrated. Based on the international results, the training protocol for a multicentre controlled clinical trial, involving the University of Pecs and the National Institute for Medical Rehabilitation is presented in this work. According to our hypothesis, high intensity exoskeleton-assisted complex rehabilitation induces positive changes in bone density, in the urogenital and gastrointestinal tract. Changes are quantified by objective urodynamic and defecative parameters. The difference in bone density is assessed with DEXA scan, and the effects on mental status are evaluated by questionnaires. The aim of this research is to promote a complementary therapeutic procedure based on validated results for SCI patients with paraplegia, also to establish recommendations for home use of the robotic exoskeletons, and to conceivably join to international scientific research projects.
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