| 1. |
|
|
| 2. |
- Bravo, L, et al.
(författare)
-
- 2021
-
swepub:Mat__t
|
|
| 3. |
- Tabiri, S, et al.
(författare)
-
- 2021
-
swepub:Mat__t
|
|
| 4. |
- Glasbey, JC, et al.
(författare)
-
- 2021
-
swepub:Mat__t
|
|
| 5. |
- Khatri, C, et al.
(författare)
-
Outcomes after perioperative SARS-CoV-2 infection in patients with proximal femoral fractures: an international cohort study
- 2021
-
Ingår i: BMJ open. - : BMJ. - 2044-6055. ; 11:11, s. e050830-
-
Tidskriftsartikel (refereegranskat)abstract
- Studies have demonstrated high rates of mortality in people with proximal femoral fracture and SARS-CoV-2, but there is limited published data on the factors that influence mortality for clinicians to make informed treatment decisions. This study aims to report the 30-day mortality associated with perioperative infection of patients undergoing surgery for proximal femoral fractures and to examine the factors that influence mortality in a multivariate analysis.SettingProspective, international, multicentre, observational cohort study.ParticipantsPatients undergoing any operation for a proximal femoral fracture from 1 February to 30 April 2020 and with perioperative SARS-CoV-2 infection (either 7 days prior or 30-day postoperative).Primary outcome30-day mortality. Multivariate modelling was performed to identify factors associated with 30-day mortality.ResultsThis study reports included 1063 patients from 174 hospitals in 19 countries. Overall 30-day mortality was 29.4% (313/1063). In an adjusted model, 30-day mortality was associated with male gender (OR 2.29, 95% CI 1.68 to 3.13, p<0.001), age >80 years (OR 1.60, 95% CI 1.1 to 2.31, p=0.013), preoperative diagnosis of dementia (OR 1.57, 95% CI 1.15 to 2.16, p=0.005), kidney disease (OR 1.73, 95% CI 1.18 to 2.55, p=0.005) and congestive heart failure (OR 1.62, 95% CI 1.06 to 2.48, p=0.025). Mortality at 30 days was lower in patients with a preoperative diagnosis of SARS-CoV-2 (OR 0.6, 95% CI 0.6 (0.42 to 0.85), p=0.004). There was no difference in mortality in patients with an increase to delay in surgery (p=0.220) or type of anaesthetic given (p=0.787).ConclusionsPatients undergoing surgery for a proximal femoral fracture with a perioperative infection of SARS-CoV-2 have a high rate of mortality. This study would support the need for providing these patients with individualised medical and anaesthetic care, including medical optimisation before theatre. Careful preoperative counselling is needed for those with a proximal femoral fracture and SARS-CoV-2, especially those in the highest risk groups.Trial registration numberNCT04323644
|
|
| 6. |
|
|
| 7. |
- Bousquet, Jean, et al.
(författare)
-
Allergic Rhinitis and its Impact on Asthma (ARIA) Phase 4 (2018) : Change management in allergic rhinitis and asthma multimorbidity using mobile technology
- 2019
-
Ingår i: Journal of Allergy and Clinical Immunology. - : Elsevier. - 0091-6749 .- 1097-6825. ; 143:3, s. 864-879
-
Tidskriftsartikel (refereegranskat)abstract
- Allergic Rhinitis and its Impact on Asthma (ARIA) has evolved from a guideline by using the best approach to integrated care pathways using mobile technology in patients with allergic rhinitis (AR) and asthma multimorbidity. The proposed next phase of ARIA is change management, with the aim of providing an active and healthy life to patients with rhinitis and to those with asthma multimorbidity across the lifecycle irrespective of their sex or socioeconomic status to reduce health and social inequities incurred by the disease. ARIA has followed the 8-step model of Kotter to assess and implement the effect of rhinitis on asthma multimorbidity and to propose multimorbid guidelines. A second change management strategy is proposed by ARIA Phase 4 to increase self-medication and shared decision making in rhinitis and asthma multimorbidity. An innovation of ARIA has been the development and validation of information technology evidence-based tools (Mobile Airways Sentinel Network [MASK]) that can inform patient decisions on the basis of a self-care plan proposed by the health care professional.
|
|
| 8. |
- Bousquet, J, et al.
(författare)
-
Nrf2-interacting nutrients and COVID-19: time for research to develop adaptation strategies
- 2020
-
Ingår i: Clinical and translational allergy. - : Wiley. - 2045-7022. ; 10:1, s. 58-
-
Tidskriftsartikel (refereegranskat)abstract
- There are large between- and within-country variations in COVID-19 death rates. Some very low death rate settings such as Eastern Asia, Central Europe, the Balkans and Africa have a common feature of eating large quantities of fermented foods whose intake is associated with the activation of the Nrf2 (Nuclear factor (erythroid-derived 2)-like 2) anti-oxidant transcription factor. There are many Nrf2-interacting nutrients (berberine, curcumin, epigallocatechin gallate, genistein, quercetin, resveratrol, sulforaphane) that all act similarly to reduce insulin resistance, endothelial damage, lung injury and cytokine storm. They also act on the same mechanisms (mTOR: Mammalian target of rapamycin, PPARγ:Peroxisome proliferator-activated receptor, NFκB: Nuclear factor kappa B, ERK: Extracellular signal-regulated kinases and eIF2α:Elongation initiation factor 2α). They may as a result be important in mitigating the severity of COVID-19, acting through the endoplasmic reticulum stress or ACE-Angiotensin-II-AT1R axis (AT1R) pathway. Many Nrf2-interacting nutrients are also interacting with TRPA1 and/or TRPV1. Interestingly, geographical areas with very low COVID-19 mortality are those with the lowest prevalence of obesity (Sub-Saharan Africa and Asia). It is tempting to propose that Nrf2-interacting foods and nutrients can re-balance insulin resistance and have a significant effect on COVID-19 severity. It is therefore possible that the intake of these foods may restore an optimal natural balance for the Nrf2 pathway and may be of interest in the mitigation of COVID-19 severity.
|
|
| 9. |
|
|
| 10. |
- Menditto, Enrica, et al.
(författare)
-
Adherence to treatment in allergic rhinitis using mobile technology : The MASK Study
- 2019
-
Ingår i: Clinical and Experimental Allergy. - : WILEY. - 0954-7894 .- 1365-2222. ; 49:4, s. 442-460
-
Tidskriftsartikel (refereegranskat)abstract
- Background: Mobile technology may help to better understand the adherence to treatment. MASK-rhinitis (Mobile Airways Sentinel NetworK for allergic rhinitis) is a patient-centred ICT system. A mobile phone app (the Allergy Diary) central to MASK is available in 22 countries. Objectives: To assess the adherence to treatment in allergic rhinitis patients using the Allergy Diary App. Methods: An observational cross-sectional study was carried out on all users who filled in the Allergy Diary from 1 January 2016 to 1 August 2017. Secondary adherence was assessed by using the modified Medication Possession Ratio (MPR) and the Proportion of days covered (PDC) approach. Results: A total of 12143 users were registered. A total of 6949 users reported at least one VAS data recording. Among them, 1887 users reported >= 7 VAS data. About 1195 subjects were included in the analysis of adherence. One hundred and thirty-six (11.28%) users were adherent (MPR >= 70% and PDC <= 1.25), 51 (4.23%) were partly adherent (MPR >= 70% and PDC = 1.50) and 176 (14.60%) were switchers. On the other hand, 832 (69.05%) users were non-adherent to medications (MPR <70%). Of those, the largest group was non-adherent to medications and the time interval was increased in 442 (36.68%) users. Conclusion and clinical relevance: Adherence to treatment is low. The relative efficacy of continuous vs on-demand treatment for allergic rhinitis symptoms is still a matter of debate. This study shows an approach for measuring retrospective adherence based on a mobile app. This also represents a novel approach for analysing medication-taking behaviour in a real-world setting.
|
|
| 11. |
|
|
| 12. |
|
|
| 13. |
- Pelletier, F., et al.
(författare)
-
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
- 2021
-
Ingår i: Journal of Clinical Endocrinology & Metabolism. - : The Endocrine Society. - 0021-972X .- 1945-7197. ; 106:2
-
Tidskriftsartikel (refereegranskat)abstract
- Context: 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused by biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, and POLR3K. The endocrine and growth abnormalities associated with this disorder have not been thoroughly investigated to date. Objective: To systematically characterize endocrine abnormalities of patients with 4H leukodystrophy. Design: An international cross-sectional study was performed on 150 patients with genetically confirmed 4H leukodystrophy between 2015 and 2016. Endocrine and growth abnormalities were evaluated, and neurological and other non-neurological features were reviewed. Potential genotype/phenotype associations were also investigated. Setting: This was a multicenter retrospective study using information collected from 3 predominant centers. Patients: A total of 150 patients with 4H leukodystrophy and pathogenic variants in POLR3A, POLR3B, or POLR1C were included. Main Outcome Measures: Variables used to evaluate endocrine and growth abnormalities included pubertal history, hormone levels (estradiol, testosterone, stimulated LH and FSH, stimulated GH, IGF-I, prolactin, ACTH, cortisol, TSH, and T4), and height and head circumference charts. Results: The most common endocrine abnormalities were delayed puberty (57/74; 77% overall, 64% in males, 89% in females) and short stature (57/93; 61%), when evaluated according to physician assessment. Abnormal thyroid function was reported in 22% (13/59) of patients. Conclusions: Our results confirm pubertal abnormalities and short stature are the most common endocrine features seen in 4H leukodystrophy. However, we noted that endocrine abnormalities are typically underinvestigated in this patient population. A prospective study is required to formulate evidence-based recommendations for management of the endocrine manifestations of this disorder.
|
|
| 14. |
|
|
| 15. |
|
|
| 16. |
|
|
| 17. |
- Bosnic-Anticevich, S, et al.
(författare)
-
ARIA pharmacy 2018 "Allergic rhinitis care pathways for community pharmacy"
- 2019
-
Ingår i: Allergy. European Journal of Allergy and Clinical Immunology. - : Wiley. - 0105-4538 .- 1398-9995. ; 74:7, s. 1219-1236
-
Forskningsöversikt (refereegranskat)abstract
- Pharmacists are trusted health professionals. Many patients use over-the-counter (OTC) medications and are seen by pharmacists who are the initial point of contact of allergic rhinitis management in most countries. The role of pharmacists in integrated care pathways (ICPs) for allergic diseases is important. This paper builds on existing studies and provides tools intended to help pharmacists provide optimal advice/interventions/strategies to patients with rhinitis. The ARIA-pharmacy ICP includes a diagnostic questionnaire specifically focusing attention on key symptoms and markers of the disease, a systematic Diagnosis Guide (including differential diagnoses) and a simple flowchart with proposed treatment for rhinitis and asthma multimorbidity. Key prompts for referral within the ICP are included. The use of technology is critical to enhance the management of AR. However, the ARIA-pharmacy ICP should be adapted to local health care environments/situations as regional (national) differences exist in pharmacy care.
|
|
| 18. |
|
|
| 19. |
- Bernal, Ximena E., et al.
(författare)
-
Empowering Latina scientists
- 2019
-
Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 363:6429, s. 825-826
-
Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
|
|
| 20. |
|
|
| 21. |
|
|
| 22. |
|
|
| 23. |
- Bousquet, Jean, et al.
(författare)
-
ARIA digital anamorphosis : Digital transformation of health and care in airway diseases from research to practice
- 2021
-
Ingår i: Allergy. European Journal of Allergy and Clinical Immunology. - : John Wiley & Sons. - 0105-4538 .- 1398-9995. ; 76:1, s. 168-190
-
Forskningsöversikt (refereegranskat)abstract
- Digital anamorphosis is used to define a distorted image of health and care that may be viewed correctly using digital tools and strategies. MASK digital anamorphosis represents the process used by MASK to develop the digital transformation of health and care in rhinitis. It strengthens the ARIA change management strategy in the prevention and management of airway disease. The MASK strategy is based on validated digital tools. Using the MASK digital tool and the CARAT online enhanced clinical framework, solutions for practical steps of digital enhancement of care are proposed.
|
|
| 24. |
- Bousquet, J, et al.
(författare)
-
MASK 2017 : ARIA digitally-enabled, integrated, person-centred care for rhinitis and asthma multimorbidity using real-world-evidence.
- 2018
-
Ingår i: Clinical and Translational Allergy. - : Wiley. - 2045-7022. ; 8
-
Tidskriftsartikel (refereegranskat)abstract
- mHealth, such as apps running on consumer smart devices is becoming increasingly popular and has the potential to profoundly affect healthcare and health outcomes. However, it may be disruptive and results achieved are not always reaching the goals. Allergic Rhinitis and its Impact on Asthma (ARIA) has evolved from a guideline using the best evidence-based approach to care pathways suited to real-life using mobile technology in allergic rhinitis (AR) and asthma multimorbidity. Patients largely use over-the-counter medications dispensed in pharmacies. Shared decision making centered around the patient and based on self-management should be the norm. Mobile Airways Sentinel networK (MASK), the Phase 3 ARIA initiative, is based on the freely available MASK app (the Allergy Diary, Android and iOS platforms). MASK is available in 16 languages and deployed in 23 countries. The present paper provides an overview of the methods used in MASK and the key results obtained to date. These include a novel phenotypic characterization of the patients, confirmation of the impact of allergic rhinitis on work productivity and treatment patterns in real life. Most patients appear to self-medicate, are often non-adherent and do not follow guidelines. Moreover, the Allergy Diary is able to distinguish between AR medications. The potential usefulness of MASK will be further explored by POLLAR (Impact of Air Pollution on Asthma and Rhinitis), a new Horizon 2020 project using the Allergy Diary.
|
|
| 25. |
|
|
| 26. |
|
|
| 27. |
|
|
| 28. |
|
|
| 29. |
|
|
| 30. |
- Bousquet, J. Jean, et al.
(författare)
-
Next-generation ARIA care pathways for rhinitis and asthma : a model for multimorbid chronic diseases
- 2019
-
Ingår i: Clinical and Translational Allergy. - : BMC. - 2045-7022. ; 9
-
Forskningsöversikt (refereegranskat)abstract
- Background: In all societies, the burden and cost of allergic and chronic respiratory diseases are increasing rapidly. Most economies are struggling to deliver modern health care effectively. There is a need to support the transformation of the health care system into integrated care with organizational health literacy.Main body: As an example for chronic disease care, MASK (Mobile Airways Sentinel NetworK), a new project of the ARIA (Allergic Rhinitis and its Impact on Asthma) initiative, and POLLAR (Impact of Air POLLution on Asthma and Rhinitis, EIT Health), in collaboration with professional and patient organizations in the field of allergy and airway diseases, are proposing real-life ICPs centred around the patient with rhinitis, and using mHealth to monitor environmental exposure. Three aspects of care pathways are being developed: (i) Patient participation, health literacy and self-care through technology-assisted "patient activation", (ii) Implementation of care pathways by pharmacists and (iii) Next-generation guidelines assessing the recommendations of GRADE guidelines in rhinitis and asthma using real-world evidence (RWE) obtained through mobile technology. The EU and global political agendas are of great importance in supporting the digital transformation of health and care, and MASK has been recognized by DG Sante as a Good Practice in the field of digitally-enabled, integrated, person-centred care.Conclusion: In 20 years, ARIA has considerably evolved from the first multimorbidity guideline in respiratory diseases to the digital transformation of health and care with a strong political involvement.
|
|
| 31. |
|
|
| 32. |
- Tomić, I., et al.
(författare)
-
Shake-table testing of a stone masonry building aggregate : overview of blind prediction study
- 2023
-
Ingår i: Bulletin of Earthquake Engineering. - : Springer Science and Business Media LLC. - 1570-761X .- 1573-1456.
-
Tidskriftsartikel (refereegranskat)abstract
- City centres of Europe are often composed of unreinforced masonry structural aggregates, whose seismic response is challenging to predict. To advance the state of the art on the seismic response of these aggregates, the Adjacent Interacting Masonry Structures (AIMS) subproject from Horizon 2020 project Seismology and Earthquake Engineering Research Infrastructure Alliance for Europe (SERA) provides shake-table test data of a two-unit, double-leaf stone masonry aggregate subjected to two horizontal components of dynamic excitation. A blind prediction was organized with participants from academia and industry to test modelling approaches and assumptions and to learn about the extent of uncertainty in modelling for such masonry aggregates. The participants were provided with the full set of material and geometrical data, construction details and original seismic input and asked to predict prior to the test the expected seismic response in terms of damage mechanisms, base-shear forces, and roof displacements. The modelling approaches used differ significantly in the level of detail and the modelling assumptions. This paper provides an overview of the adopted modelling approaches and their subsequent predictions. It further discusses the range of assumptions made when modelling masonry walls, floors and connections, and aims at discovering how the common solutions regarding modelling masonry in general, and masonry aggregates in particular, affect the results. The results are evaluated both in terms of damage mechanisms, base shear forces, displacements and interface openings in both directions, and then compared with the experimental results. The modelling approaches featuring Discrete Element Method (DEM) led to the best predictions in terms of displacements, while a submission using rigid block limit analysis led to the best prediction in terms of damage mechanisms. Large coefficients of variation of predicted displacements and general underestimation of displacements in comparison with experimental results, except for DEM models, highlight the need for further consensus building on suitable modelling assumptions for such masonry aggregates.
|
|
| 33. |
|
|
| 34. |
|
|
| 35. |
|
|
| 36. |
|
|
| 37. |
|
|
| 38. |
|
|
| 39. |
- Fonseca, JA, et al.
(författare)
-
[ARIA 2019: An Integrated Care Pathway for Allergic Rhinitis in Portugal]
- 2021
-
Ingår i: Acta medica portuguesa. - : Ordem dos Medicos. - 1646-0758 .- 0870-399X. ; 34:2, s. 145-158
-
Tidskriftsartikel (refereegranskat)abstract
- A iniciativa Allergic Rhinitis and Its Impact on Asthma (ARIA) teve início há mais de 20 anos e tem elaborado e disseminado orientações baseadas em evidência, e desenvolvido projetos na área da rinite alérgica. Esta iniciativa está atualmente focada em proporcionar orientações centradas no doente que contribuam para um percurso integrado entre os vários níveis de cuidados e que tirem partido de soluções digitais, tendo sido recomendada a introdução na prática clínica de percursos assistenciais integrados. Neste artigo descrevemos a adaptação para Portugal do documento ARIA Integrated Care Pathways. Após breve revisão sobre a epidemiologia e o impacto da rinite alérgica em Portugal e das atividades realizadas em Portugal no âmbito da iniciativa ARIA, é descrito o conjunto alargado de conhecimento utilizado para o desenvolvimento das recomendações para o tratamento farmacológico da rinite alérgica, recomendações essas baseadas na metodologia GRADE, evidência do mundo real adquirida por tecnologia móvel (mHealth) e resultante de estudos de câmara de exposição alergénica. Em seguida, são resumidos os percursos assistenciais integrados para imunoterapia com alergénios produzidas em 2019. Considera-se a imunoterapia com alergénios um exemplo de medicina de precisão e em que a utilização de tecnologias mHealth permitirá melhorar a estratificação para seleção dos doentes e monitorização da resposta. Estas recomendações foram consideradas como ‘boas práticas’ dos cuidados integrados centrados no doente apoiados por sistemas digitais da DG Santé (Direção Geral de Saúde e de Segurança Alimentar da União Europeia) e representam a estratégia de gestão da mudança da fase 4 do ARIA.
|
|
| 40. |
- Frank, J., et al.
(författare)
-
Dietary flavonoids with a catechol structure increase alpha-tocopherol in rats and protect the vitamin from oxidation in vitro
- 2006
-
Ingår i: Journal of Lipid Research. - 0022-2275 .- 1539-7262. ; 47:12, s. 2718-2725
-
Tidskriftsartikel (refereegranskat)abstract
- To identify dietary phenolic compounds capable of improving vitamin E status, male Sprague-Dawleyrats were fed for 4 weeks either a basal diet ( control) with 2 g/kg cholesterol and an adequate content of vitamin E or the basal diet fortified with quercetin ( Q), (2)-epicatechin (EC), or (1)-catechin ( C) at concentrations of 2 g/kg. All three catechol derivatives substantially increased concentrations of alpha-tocopherol (alpha-T) in blood plasma and liver. To study potential mechanisms underlying the observed increase of alpha-T, the capacities of the Flavonoids to i) protect alpha-T from oxidation in LDL exposed to peroxyl radicals, ii) reduce alpha-tocopheroxyl radicals (alpha-T-.) in SDS micelles, and iii) inhibit the metabolism of tocopherols in HepG2 cells were determined. All flavonoids protected alpha-T from oxidation in human LDL ex vivo and dose-dependently reduced the concentrations of alpha-T-.. None of the test compounds affected vitamin E metabolism in the hepatocyte cultures. In conclusion, fortification of the diet of Sprague-Dawley rats with Q, EC, or C considerably improved their vitamin E status. The underlying mechanism does not appear to involve vitamin E metabolism but may involve direct quenching of free radicals or reduction of the alpha-T-. by the flavonoids.
|
|
| 41. |
- Krauss, Tobias, et al.
(författare)
-
Preventive medicine of von Hippel-Lindau disease-associated pancreatic neuroendocrine tumors
- 2018
-
Ingår i: Endocrine-Related Cancer. - : BIOSCIENTIFICA LTD. - 1351-0088 .- 1479-6821. ; 25:9, s. 783-793
-
Tidskriftsartikel (refereegranskat)abstract
- Pancreatic neuroendocrine tumors (PanNETs) are rare in von Hippel-Lindau disease (VHL) but cause serious morbidity and mortality. Management guidelines for VHL-PanNETs continue to be based on limited evidence, and survival data to guide surgical management are lacking. We established the European-American-Asian-VHL-PanNET-Registry to assess data for risks for metastases, survival and long-term outcomes to provide best management recommendations. Of 2330 VHL patients, 273 had a total of 484 PanNETs. Median age at diagnosis of PanNET was 35 years (range 10-75). Fifty-five (20%) patients had metastatic PanNETs. Metastatic PanNETs were significantly larger (median size 5 vs 2 cm; P < 0.001) and tumor volume doubling time (TVDT) was faster (22 vs 126 months; P = 0.001). All metastatic tumors were >= 2.8 cm. Codons 161 and 167 were hotspots for VHL germline mutations with enhanced risk for metastatic PanNETs. Multivariate prediction modeling disclosed maximum tumor diameter and TVDT as significant predictors for metastatic disease (positive and negative predictive values of 51% and 100% for diameter cut-off >= 2.8 cm, 44% and 91% for TVDT cut-off of <= 24 months). In 117 of 273 patients, PanNETs > 1.5 cm in diameter were operated. Ten-year survival was significantly longer in operated vs non-operated patients, in particular for PanNETs < 2.8 cm vs >= 2.8 cm (94% vs 85% by 10 years; P = 0.020; 80% vs 50% at 10 years; P = 0.030). This study demonstrates that patients with PanNET approaching the cut-off diameter of 2.8 cm should be operated. Mutations in exon 3, especially of codons 161/167 are at enhanced risk for metastatic PanNETs. Survival is significantly longer in operated non-metastatic VHL-PanNETs.
|
|
| 42. |
- Lima, R. A. S., et al.
(författare)
-
Association of the fibronectin type III domain-containing protein 5 rs1746661 single nucleotide polymorphism with reduced brain glucose metabolism in elderly humans
- 2023
-
Ingår i: Brain Communications. ; 5:4
-
Tidskriftsartikel (refereegranskat)abstract
- Lima-Filho et al. reported that cognitively unimpaired elders carrying the FNDC5 rs1746661(T) allele develop low brain glucose metabolism and increased amyloid deposition. These findings indicate that FNDC5 may contribute to regional glucose metabolism in the human brain. Fibronectin type III domain-containing protein 5 (FNDC5) and its derived hormone, irisin, have been associated with metabolic control in humans, with described FNDC5 single nucleotide polymorphisms being linked to obesity and metabolic syndrome. Decreased brain FNDC5/irisin has been reported in subjects with dementia due to Alzheimer's disease. Since impaired brain glucose metabolism develops in ageing and is prominent in Alzheimer's disease, here, we examined associations of a single nucleotide polymorphism in the FNDC5 gene (rs1746661) with brain glucose metabolism and amyloid-& beta; deposition in a cohort of 240 cognitively unimpaired and 485 cognitively impaired elderly individuals from the Alzheimer's Disease Neuroimaging Initiative. In cognitively unimpaired elderly individuals harbouring the FNDC5 rs1746661(T) allele, we observed a regional reduction in low glucose metabolism in memory-linked brain regions and increased brain amyloid-& beta; PET load. No differences in cognition or levels of cerebrospinal fluid amyloid-& beta;(42), phosphorylated tau and total tau were observed between FNDC5 rs1746661(T) allele carriers and non-carriers. Our results indicate that a genetic variant of FNDC5 is associated with low brain glucose metabolism in elderly individuals and suggest that FNDC5 may participate in the regulation of brain metabolism in brain regions vulnerable to Alzheimer's disease pathophysiology. Understanding the associations between genetic variants in metabolism-linked genes and metabolic brain signatures may contribute to elucidating genetic modulators of brain metabolism in humans.
|
|
| 43. |
- Lourenço, Miguel L., et al.
(författare)
-
A Design Contribution to Ergonomic PC Mice Development
- 2022
-
Ingår i: International Journal of Environmental Research and Public Health. - : MDPI. - 1661-7827 .- 1660-4601. ; 19:13
-
Tidskriftsartikel (refereegranskat)abstract
- Developing new manual computer pointing devices abiding to the requirements set out in ergonomic product design literature necessitates joining contributions from several areas, including the ergonomic guidelines applicable to hand tool design, human–system interaction, and certain user characteristics such as anthropometric data. Computer mice are hand tools enabling the interaction with the computer, for use by people from both sexes and practically all ages. Moreover, the PC mouse’s intensive usage is able to cause musculoskeletal disorders. This paper reports on a study aimed at developing new computer mouse shapes, reducing forearm pronation, and providing hand–palm holding, supported by a literature review and an adequate design methodology, starting from known shapes of commercial products, the traditional (horizontal) computer mouse, and the vertical computer mouse. In this regard, potential concepts were generated as solutions to the previously specified problem through a set of creative tasks based on the specifications. Four new shapes were proposed to be evaluated through an assessment matrix; as a result, two new PC mice geometries were designed and fully prototyped. This study also reports on selected results of usability and an electromyographic evaluation of the prototypes against three commercial PC mice (horizontal, slanted, and vertical) by a sample of 20 participants, supporting validation of the development process and the newly developed geometries, with emphasis on the slanted conical innovative shape.
|
|
| 44. |
- Naakka, E, et al.
(författare)
-
miR-22 and miR-205 Drive Tumor Aggressiveness of Mucoepidermoid Carcinomas of Salivary Glands
- 2022
-
Ingår i: Frontiers in oncology. - : Frontiers Media SA. - 2234-943X. ; 11, s. 786150-
-
Tidskriftsartikel (refereegranskat)abstract
- To integrate mRNA and miRNA expression profiles of mucoepidermoid carcinomas (MECs) and normal salivary gland (NSGs) tissue samples and identify potential drivers.Material and MethodsGene and miRNA expression arrays were performed in 35 MECs and six NSGs.ResultsWe found 46 differentially expressed (DE) miRNAs and 3,162 DE mRNAs. Supervised hierarchical clustering analysis of the DE transcripts revealed two clusters in both miRNA and mRNA profiles, which distinguished MEC from NSG samples. The integrative miRNA-mRNA analysis revealed a network comprising 696 negatively correlated interactions (44 miRNAs and 444 mRNAs) involving cell signaling, cell cycle, and cancer-related pathways. Increased expression levels of miR-205-5p and miR-224-5p and decreased expression levels of miR-139-3p, miR-145-3p, miR-148a-3p, miR-186-5p, miR-338-3p, miR-363-3p, and miR-4324 were significantly related to worse overall survival in MEC patients. Two overexpressed miRNAs in MEC (miR-22 and miR-205) were selected for inhibition by the CRISPR-Cas9 method. Cell viability, migration, and invasion assays were performed using an intermediate grade MEC cell line. Knockout of miR-205 reduced cell viability and enhanced ZEB2 expression, while miR-22 knockout reduced cell migration and invasion and enhanced ESR1 expression. Our results indicate a distinct transcriptomic profile of MEC compared to NSG, and the integrative analysis highlighted miRNA-mRNA interactions involving cancer-related pathways, including PTEN and PI3K/AKT.ConclusionThe in vitro functional studies revealed that miR-22 and miR-205 deficiencies reduced the viability, migration, and invasion of the MEC cells suggesting they are potential oncogenic drivers in MEC.
|
|
| 45. |
|
|
| 46. |
|
|
| 47. |
- Simoes, JP, et al.
(författare)
-
Multidisciplinary Tinnitus Research: Challenges and Future Directions From the Perspective of Early Stage Researchers
- 2021
-
Ingår i: Frontiers in aging neuroscience. - : Frontiers Media SA. - 1663-4365. ; 13, s. 647285-
-
Tidskriftsartikel (refereegranskat)abstract
- Tinnitus can be a burdensome condition on both individual and societal levels. Many aspects of this condition remain elusive, including its underlying mechanisms, ultimately hindering the development of a cure. Interdisciplinary approaches are required to overcome long-established research challenges. This review summarizes current knowledge in various tinnitus-relevant research fields including tinnitus generating mechanisms, heterogeneity, epidemiology, assessment, and treatment development, in an effort to highlight the main challenges and provide suggestions for future research to overcome them. Four common themes across different areas were identified as future research direction: (1) Further establishment of multicenter and multidisciplinary collaborations; (2) Systematic reviews and syntheses of existing knowledge; (3) Standardization of research methods including tinnitus assessment, data acquisition, and data analysis protocols; (4) The design of studies with large sample sizes and the creation of large tinnitus-specific databases that would allow in-depth exploration of tinnitus heterogeneity.
|
|
| 48. |
- Anderson, Beverley H., et al.
(författare)
-
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus
- 2012
-
Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 44:3, s. 338-342
-
Tidskriftsartikel (refereegranskat)abstract
- Coats plus is a highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal tract. Here, we show that Coats plus results from mutations in CTC1, encoding conserved telomere maintenance component 1, a member of the mammalian homolog of the yeast heterotrimeric CST telomeric capping complex. Consistent with the observation of shortened telomeres in an Arabidopsis CTC1 mutant and the phenotypic overlap of Coats plus with the telomeric maintenance disorders comprising dyskeratosis congenita, we observed shortened telomeres in three individuals with Coats plus and an increase in spontaneous gamma H2AX-positive cells in cell lines derived from two affected individuals. CTC1 is also a subunit of the alpha-accessory factor (AAF) complex, stimulating the activity of DNA polymerase-alpha primase, the only enzyme known to initiate DNA replication in eukaryotic cells. Thus, CTC1 may have a function in DNA metabolism that is necessary for but not specific to telomeric integrity.
|
|
| 49. |
- Arouca, Aline B, et al.
(författare)
-
Interplay between the Mediterranean diet and C-reactive protein genetic polymorphisms towards inflammation in adolescents
- 2020
-
Ingår i: Clinical Nutrition. - : Churchill Livingstone. - 0261-5614 .- 1532-1983. ; 39:6, s. 1919-1926
-
Tidskriftsartikel (refereegranskat)abstract
- AIM: From a nutrigenetics perspective, we aim to investigate the moderating role of the Mediterranean diet and each of its subgroups in the association between C-reactive protein (CRP) gene polymorphisms and CRP blood concentration in adolescents.METHODS: In 562 adolescents (13-17 y) of the European HELENA study, data was available on circulating CRP levels as inflammatory biomarker, three CRP gene SNPs (rs3093068, rs1204, rs1130864), food intake determined by a self-administered computerized 24 h-dietary recall for 2 days, and body composition. A 9-point Mediterranean diet score and each food subgroup were tested as moderator via SNP*diet interaction. Analyzes were adjusted for age, sex, puberty, adiposity and socioeconomic status.RESULTS: The minor allele frequencies of rs3093068 and rs1130864 SNPs (GG and TT, respectively) were associated with higher CRP concentrations, while rs1205 (CT/TT) was associated with lower CRP concentrations. There were significant interactions between rs3093068 and Mediterranean diet (B = -0.1139, p = 0.011), or the fish food subgroup (B = -0.0090, p = 0.022), so that those with the highest genetic CRP risk underwent the highest CRP attenuation by a healthier diet. Although the effect of diet and SNP was substantial, the explained variance by interaction was only 1%.CONCLUSION: Greater adherence to the Mediterranean diet and particularly its fish component was associated with a lower CRP blood concentrations especially in those at highest genetic risk due to the rs3093068 SNP.
|
|
| 50. |
- Carruba, V., et al.
(författare)
-
On the identification of the first two young asteroid families in g-type non-linear secular resonances
- 2024
-
Ingår i: Monthly Notices of the Royal Astronomical Society. - 0035-8711 .- 1365-2966. ; 528:1, s. 796-814
-
Tidskriftsartikel (refereegranskat)abstract
- Linear secular resonances happen when there is a commensurability between the precession frequency of the pericenter, g, or longitude of the node, s, of an asteroid and a planet. Non-linear resonances are higher order combinations of these frequencies. Here, we studied the three most diffusive g-type non-linear secular resonances using Artificial Neural Networks. We identified a population of more than 2100 resonant objects in the g − 2g6 + g5 and g − 3g6 + 2g5 resonances. This allows the creation of a Convolutional Neural Network model for the g − 2g6 + g5 resonance, able to predict the status of several thousands of asteroids in seconds. We identified 12 new possible dynamical groups among the resonant population, including the 5507 and 170776 families, which have both estimated ages of less than 7 Myr. These are the two first-ever identified young families in resonant configurations of the investigated resonances, which allows for setting limits on their original ejection velocity field.
|
|
