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- Glasbey, JC, et al.
(författare)
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- 2021
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swepub:Mat__t
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- Jonsson, Lina, 1982, et al.
(författare)
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Rare and Common Variants Conferring Risk of Tooth Agenesis
- 2018
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Ingår i: Journal of Dental Research. - : SAGE Publications. - 0022-0345 .- 1544-0591. ; 97:5, s. 515-522
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Tidskriftsartikel (refereegranskat)abstract
- We present association results from a large genome-wide association study of tooth agenesis (TA) as well as selective TA, including 1,944 subjects with congenitally missing teeth, excluding third molars, and 338,554 controls, all of European ancestry. We also tested the association of previously identified risk variants, for timing of tooth eruption and orofacial clefts, with TA. We report associations between TA and 9 novel risk variants. Five of these variants associate with selective TA, including a variant conferring risk of orofacial clefts. These results contribute to a deeper understanding of the genetic architecture of tooth development and disease. The few variants previously associated with TA were uncovered through candidate gene studies guided by mouse knockouts. Knowing the etiology and clinical features of TA is important for planning oral rehabilitation that often involves an interdisciplinary approach.
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- Walters, G. B., et al.
(författare)
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MAP1B mutations cause intellectual disability and extensive white matter deficit
- 2018
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 9:1
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Tidskriftsartikel (refereegranskat)abstract
- Discovery of coding variants in genes that confer risk of neurodevelopmental disorders is an important step towards understanding the pathophysiology of these disorders. Wholegenome sequencing of 31,463 Icelanders uncovers a frameshift variant (E712KfsTer10) in microtubule-associated protein 1B (MAP1B) that associates with ID/low IQ in a large pedigree (genome-wide corrected P = 0.022). Additional stop-gain variants in MAP1B (E1032Ter and R1664Ter) validate the association with ID and IQ. Carriers have 24% less white matter (WM) volume (beta = -2.1SD, P = 5.1 x 10(-8)), 47% less corpus callosum (CC) volume (beta = -2.4SD, P = 5.5 x 10(-10)) and lower brain-wide fractional anisotropy (P = 6.7 x 10(-4)). In summary, we show that loss of MAP1B function affects general cognitive ability through a profound, brain-wide WM deficit with likely disordered or compromised axons.
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- Gaga, M, et al.
(författare)
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Evaluation and management of severe asthma
- 2007
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Ingår i: Current medicinal chemistry. - : Bentham Science Publishers Ltd.. - 0929-8673. ; 14:9, s. 1049-1059
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Tidskriftsartikel (refereegranskat)
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| 13. |
- Samitas, Konstantinos, 1977, et al.
(författare)
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Osteopontin expression and relation to disease severity in human asthma.
- 2011
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Ingår i: The European respiratory journal. - : European Respiratory Society (ERS). - 1399-3003 .- 0903-1936. ; 37:2, s. 331-341
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Tidskriftsartikel (refereegranskat)abstract
- Recent studies have associated osteopontin (Opn) with allergic inflammation; however, its role in human asthma remains unclear. We measured Opn levels in serum, bronchoalveolar lavage fluid (BALF) and bronchial tissue of healthy controls and asthmatics, identified cellular sources of Opn and examined possible correlations between Opn expression, disease severity and airway remodeling. Serum samples were obtained from 35 mild-moderate (MMA), 19 severe asthmatics (SA) and 17 healthy controls in steady state and in case of exacerbation. Of these subjects, 29 asthmatics and 9 controls underwent bronchoscopy with endobronchial biopsy and BALF collection. Opn expression was determined by ELISA and immunohistochemistry/immunofluorescence. Reticular basement membrane (RBM) thickness and goblet cell hyperplasia were also determined. Serum and BALF Opn levels were significantly increased in all asthmatics in steady state, while serum levels decreased during exacerbations. Opn was upregulated in the bronchial tissue of all patients and expressed by epithelial, airway and vascular smooth muscle cells, myofibroblasts, T-lymphocytes and mast cells. Opn expression correlated with RBM thickness and was more prominent in subepithelial inflammatory cells in severe compared to mild-moderate asthma. Opn expression is upregulated in human asthma, is associated with remodeling changes and its subepithelial expression correlates to disease severity.
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- Dzanko, M., et al.
(författare)
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Experimental demonstration and benefits of self-healing hard-wired and synthetic ROADMs
- 2014
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Ingår i: Optical Fiber Communication Conference, OFC 2014. - Washington, D.C. : Optical Society of America.
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Konferensbidrag (refereegranskat)abstract
- Novel hard-wired and synthetic ROADM architectures with self-healing capabilities are experimentally demonstrated. Simulation results show significant improvements of availability and recovery time due to node-level restoration, with reduced mean down time and operator revenue losses.
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| 20. |
- Dzanko, M., et al.
(författare)
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Synthesis, resiliency and power efficiency of function programmable optical nodes
- 2015
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Ingår i: Proceedings of the 13th International Conference on Telecommunications. - : IEEE.
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Konferensbidrag (refereegranskat)abstract
- Due to the large transmibion speeds and enormous volumes of transferred data, network availability performance is one of the key ibues in optical long-haul networks, comprising nodes implemented by optical crob-connects (OXCs). In this context, the design of OXCs is becoming very challenging since they have to support both legacy lower bit-rates and future highspeed super-channels by means of flexible allocation of spectral resources, and at the same time provide high availability of established connections. In this paper we study the availability and power consumption of different node architectures. We focus on the design of the new generation of synthetic programmable OXCs based on the Architecture on Demand concept which can reduce the number of utilized node components when a certain part of signals is switched at the fibre level, resulting in lower mean down time and power consumption compared to traditional node architectures.
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| 21. |
- Eger, Katrien, et al.
(författare)
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The effect of the COVID-19 pandemic on severe asthma care in Europe : will care change for good?
- 2022
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Ingår i: ERJ Open Research. - : European Respiratory Society (ERS). - 2312-0541. ; 8:2
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Tidskriftsartikel (refereegranskat)abstract
- Background The coronavirus disease 2019 (COVID-19) pandemic has put pressure on healthcare services, forcing the reorganisation of traditional care pathways. We investigated how physicians taking care of severe asthma patients in Europe reorganised care, and how these changes affected patient satisfaction, asthma control and future care. Methods In this European-wide cross-sectional study, patient surveys were sent to patients with a physician-diagnosis of severe asthma, and physician surveys to severe asthma specialists between November 2020 and May 2021. Results 1101 patients and 268 physicians from 16 European countries contributed to the study. Common physician-reported changes in severe asthma care included use of video/phone consultations (46%), reduced availability of physicians (43%) and change to home-administered biologics (38%). Change to phone/video consultations was reported in 45% of patients, of whom 79% were satisfied or very satisfied with this change. Of 709 patients on biologics, 24% experienced changes in biologic care, of whom 92% were changed to home-administered biologics and of these 62% were satisfied or very satisfied with this change. Only 2% reported worsening asthma symptoms associated with changes in biologic care. Many physicians expect continued implementation of video/phone consultations (41%) and home administration of biologics (52%). Conclusions Change to video/phone consultations and home administration of biologics was common in severe asthma care during the COVID-19 pandemic and was associated with high satisfaction levels in most but not all cases. Many physicians expect these changes to continue in future severe asthma care, though satisfaction levels may change after the pandemic.
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| 22. |
- Frix, AN, et al.
(författare)
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Heterogeneity in the use of biologics for severe asthma in Europe: a SHARP ERS study
- 2022
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Ingår i: ERJ open research. - : European Respiratory Society (ERS). - 2312-0541. ; 8:4
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Tidskriftsartikel (refereegranskat)abstract
- Treatment with biologics for severe asthma is informed by international and national guidelines and defined by national regulating bodies, but how these drugs are used in real-life is unknown.Materials and methodsThe European Respiratory Society (ERS) SHARP Clinical Research Collaboration conducted a three-step survey collecting information on asthma biologics use in Europe. Five geographically distant countries defined the survey questions, focusing on seven end-points: biologics availability and financial issues, prescription and administration modalities, inclusion criteria, continuation criteria, switching biologics, combining biologics and evaluation of corticosteroid toxicity. The survey was then sent to SHARP National Leads of 28 European countries. Finally, selected questions were submitted to a broad group of 263 asthma experts identified by national societies.ResultsAvailability of biologics varied between countries, with 17 out of 28 countries having all five existing biologics. Authorised prescribers (pulmonologists and other specialists) also differed. In-hospital administration was the preferred deliverance modality. While exacerbation rate was used as an inclusion criterion in all countries, forced expiratory volume in 1 s was used in 46%. Blood eosinophils were an inclusion criterion in all countries for interleukin-5 (IL-5)-targeted and IL-4/IL-13-targeted biologics, with varying thresholds. There were no formally established criteria for continuing biologics. Reduction in exacerbations represented the most important benchmark, followed by improvement in asthma control and quality of life. Only 73% (191 out of 263) of surveyed clinicians assessed their patients for corticosteroid-induced toxicity.ConclusionOur study reveals important heterogeneity in the use of asthma biologics across Europe. To what extent this impacts on clinical outcomes relevant to patients and healthcare services needs further investigation.
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