| 1. |
- Benn, Diana E, et al.
(författare)
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Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.
- 2006
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Ingår i: Journal of Clinical Endocrinology and Metabolism. - : The Endocrine Society. - 0021-972X .- 1945-7197. ; 91:3, s. 827-36
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Tidskriftsartikel (refereegranskat)abstract
- CONTEXT: The identification of mutations in genes encoding peptides of succinate dehydrogenase (SDH) in pheochromocytoma/paraganglioma syndromes has necessitated clear elucidation of genotype-phenotype associations.OBJECTIVE: Our objective was to determine genotype-phenotype associations in a cohort of patients with pheochromocytoma/paraganglioma syndromes and succinate dehydrogenase subunit B (SDHB) or subunit D (SDHD) mutations.DESIGN, SETTING, AND PARTICIPANTS: The International SDH Consortium studied 116 individuals (83 affected and 33 clinically unaffected) from 62 families with pheochromocytoma/paraganglioma syndromes and SDHB or SDHD mutations. Clinical data were collected between August 2003 and September 2004 from tertiary referral centers in Australia, France, New Zealand, Germany, United States, Canada, and Scotland.MAIN OUTCOME MEASURES: Data were collected on patients with pheochromocytomas and/or paragangliomas with respect to onset of disease, diagnosis, genetic testing, surgery, pathology, and disease progression. Clinical features were evaluated for evidence of genotype-phenotype associations, and penetrance was determined.RESULTS: SDHB mutation carriers were more likely than SDHD mutation carriers to develop extraadrenal pheochromocytomas and malignant disease, whereas SDHD mutation carriers had a greater propensity to develop head and neck paragangliomas and multiple tumors. For the index cases, there was no difference between 43 SDHB and 19 SDHD mutation carriers in the time to first diagnosis (34 vs. 28 yr, respectively; P = 0.3). However, when all mutation carriers were included (n = 112), the estimated age-related penetrance was different for SDHB vs. SDHD mutation carriers (P = 0.008).CONCLUSIONS: For clinical follow-up, features of SDHB mutation-associated disease include a later age of onset, extraadrenal (abdominal or thoracic) tumors, and a higher rate of malignancy. In contrast, SDHD mutation carriers, in addition to head and neck paragangliomas, should be observed for multifocal tumors, infrequent malignancy, and the possibility of extraadrenal pheochromocytoma.
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| 2. |
- Goselink, Rianne J. M., et al.
(författare)
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Transition to adult care in epilepsy: A systematic review
- 2022
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Ingår i: Seizure-European Journal of Epilepsy. - : Elsevier BV. - 1059-1311 .- 1532-2688. ; 101, s. 52-59
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Tidskriftsartikel (refereegranskat)abstract
- The transfer from paediatric to adult care can be a complex process in children with epilepsy. Inadequate care during this phase can affect long-term medical and psychosocial outcomes. The aim of this study was to review studies on transitional care from paediatric to adult healthcare for young persons with epilepsy in order to synthesize evidence for best practice. We undertook a systematic review following PRISMA guidelines and employed narrative synthesis. A total of 36 articles were included, of which 11 were interventional studies and 25 observational studies. Study quality was rated as 'good' for only four studies. Interventions included joint or multidisciplinary clinics, education (patient and health professional education) and extended service provision (Saturday clinics, peer-groups). All studies observed a positive effect experienced by the participants, regardless of intervention type. Observational studies showed that transition plans/programmes are asked for but frequently not existing or not adapted to subgroups with intellectual disability or other neurodevelopmental conditions. The results of this systematic review on transitional care in epilepsy suggest that a planned transition process likely enhances medical and psychosocial outcomes for young people with epilepsy, but the body of evidence is limited and there are significant gaps in knowledge of what efficacious transition constitutes. More studies are needed employing qualitative and quantitative methods to further explore the needs of young people with epilepsy and their families but also robust study designs to investigate the impact of interventions on medical and psychosocial outcomes.
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| 3. |
- O´Reilly, Ossian, et al.
(författare)
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Coupled High-Order Finite Difference and Unstructured Finite Volume Methods for Earthquake Rupture Dynamics in Complex Geometries
- 2011
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- Unstructured grid methods are well suited for earthquake problems in complex geometries, such as non-planar and branching faults. Unfortunately they are indefficient in comparsion wiht high-order finite differences. With the use of summation-by-parts (SBP) operators and the SAT penalty method (simultaneous approximation term) it is possible to couple unstructured finite volume methods with high-order finite difference methods in an accurate and stable way. The couple method is more efficient than the unstructured method alone. Another advantage of the SBP and SAT method is that it is possible to prove strict stability, meaning that the semi-discrete solution dissipates energy at a slightly faster rate than the continuous solution so that the error remains bounded in time, which is particulary useful for long time computations.
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| 4. |
- O´Reilly, Ossian, et al.
(författare)
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Earthquake Rupture dynamics in complex geometries using coupled high-order finite difference methods and finite volume methods
- 2012
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- We present a 2-D multi-block method for earthquake rupture dynamics in complex geometries using summation-byparts (SBP) high-order finite differences on structured grids coupled to nite volume methods on unstructured meshes. The node-centered nite volume method is used on unstructured triangular meshes to resolve earthquake ruptures propagating along non-planar faults with complex geometrical features. The unstructured meshes discretize the fault geometry only in the vicinity of the faults and have collocated nodes on the fault boundaries. Away from faults, where no complex geometry is present, the seismic waves emanating from the earthquake rupture are resolved using the high-order finite difference method on coarsened structured grids, improving the computational efficiency while maintaining the accuracy of the method.In order for the SBP high-order nite difference method to communicate with the node-centered finite volume method in a stable manner, interface conditions are imposed using the simultaneous approximation term (SAT) penalty method. In the SAT method the interface conditions and boundary conditions are imposed in a weak manner.Fault interface conditions (rate-and-state friction) are also imposed in a provably stable manner using the SAT method. Another advantage of the SAT method is the ability to impose multiple boundary conditions at a single boundary node, e.g. at the triple junction of a branching fault.The accuracy and stability of the numerical implementation are veried using the method of manufactured solutions and against other numerical implementations. To demonstrate the potential of the method, we simulate an earthquake rupture propagating in a nonplanar fault geometry resolved with unstructured meshes in the fault zone and structured grids in the far-eld.
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| 5. |
- O´Reilly, Ossian, et al.
(författare)
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Earthquake Rupture Dynamics in Complex Geometries using Coupled Summation-By-Parts High-order Finite Difference Methods and Node-Centered Finite Volume Methods
- 2012
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Ingår i: Souther California Earthquacke Center, Annual Meeting.
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- We present a 2-D multi-block method for earthquake rupture dynamics in complex geometries using summation-byparts (SBP) high-order nite di-erences on structured grids coupled to nite volume methods on unstructured meshes. The node-centered nite volume method is used on unstructured triangular meshes to resolve earthquake ruptures propagating along nonplanar faults with complex geometrical features. The unstructured meshes discretize the fault geometry only in the vicinity of the faults and have collocated nodes on the fault boundaries. Away from faults, where no complex geometry is present, the seismic waves emanating from the earthquake rupture are resolved using the high-order nite di-erence method on coarsened structured grids, improving the computational e ciency while maintaining the accuracy of the method.In order for the SBP high-order nite di-erence method to communicate with the node-centered nite volume method in a stable manner, interface conditions are imposed using the simultaneous approximation term (SAT) penalty method. In the SAT method the interface conditions and boundary conditions are imposed in a weak manner.Fault interface conditions (rate-and-state friction) are also imposed in a provably stable manner using the SAT method. Another advantage of the SAT method is the ability to impose multiple boundary conditions at a single boundary node, e.g., at the triple junction of a branching fault.The accuracy and stability of the numerical implementation are veried using the method of manufactured solutions and against other numerical implementations. To demonstrate the potential of the method, we simulate an earthquake rupture propagating in a nonplanar fault geometry resolved with unstructured meshes in the fault zone and structured grids in the far-eld.
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| 6. |
- O´Reilly, Ossian, et al.
(författare)
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High-order finite difference methods for eartquake rupture dynamics in complex geometries
- 2010
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- Unstructured grid methods are well suited for earthquake problems in complex geometries, such as non-planar and branching faults. Unfortunately they are inefficient in comparisioin with high-order finite difference. With the use of summertion-by-parts (SBP) operators and the SAT penalty method (simultaneous approximation term) it is possible to couple unstructuren finite volume methods wiht high order finite difference methods in an accurate and stable way. The coupled methods is more efficient than the unstructured method alone. Another advantage of the SBP and SAT method is that it is possible to prove strict stability, meaning that the semi-discrete solution dissipates energy at a slightly faster rate than the continuous solution so that the error remains bounded in time, which is particulary useful for long time computations.
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| 7. |
- O´Reilly, Ossian, et al.
(författare)
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Simulation of Earthquake Rupture Dynamics in Complex Geometries Using Coupled Finite Difference and Finite Volume Methods
- 2013
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- A numerical method suitable for wave propagation problems in complex geometries is developed for simulating dynamic earthquake ruptures with realistic friction laws. The numerical method couples an unstructured, node-centered finite volume method to a structured, high order finite difference method. In this work we our focus attention on 2-D antiplane shear problems. The finite volume method is used on unstructured triangular meshes to resolve earthquake ruptures propagating along a nonplanar fault. Outside the small region containing the geometrically complex fault, a high order finite difference method, having superior numerical accuracy, is used on a structured grid.The finite difference method is coupled weakly to the finite volume method along interfaces of collocated grid points. Both methods are on summation-by-parts form. The simultaneous approximation term method is used to weakly enforce the interface conditions. At fault interfaces, fault strength is expressed as a nonlinear function of sliding velocity (the jump in particle velocity across the fault) and a state variable capturing the history dependence of frictional resistance. Energy estimates are used to prove that both types of interface conditions are imposed in a stable manner.Stability and accuracy of the numerical implementation are verified through numerical experiments, and efficiency of the hybrid approach is confirmed through grid coarsening tests. Finally, the method is used to study earthquake rupture propagation along the margins of a volcanic plug.
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| 8. |
- Okely, Anthony D., et al.
(författare)
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Cross-sectional examination of 24-hour movement behaviours among 3-and 4-year-old children in urban and rural settings in low-income, middle-income and high-income countries : the SUNRISE study protocol
- 2021
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Ingår i: BMJ Open. - : BMJ Publishing Group Ltd. - 2044-6055. ; 11:10
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Tidskriftsartikel (refereegranskat)abstract
- Introduction 24-hour movement behaviours (physical activity, sedentary behaviour and sleep) during the early years are associated with health and developmental outcomes, prompting the WHO to develop Global guidelines for physical activity, sedentary behaviour and sleep for children under 5 years of age. Prevalence data on 24-hour movement behaviours is lacking, particularly in low-income and middle-income countries (LMICs). This paper describes the development of the SUNRISE International Study of Movement Behaviours in the Early Years protocol, designed to address this gap. Methods and analysis SUNRISE is the first international cross-sectional study that aims to determine the proportion of 3- and 4-year-old children who meet the WHO Global guidelines. The study will assess if proportions differ by gender, urban/rural location and/or socioeconomic status. Executive function, motor skills and adiposity will be assessed and potential correlates of 24-hour movement behaviours examined. Pilot research from 24 countries (14 LMICs) informed the study design and protocol. Data are collected locally by research staff from partnering institutions who are trained throughout the research process. Piloting of all measures to determine protocol acceptability and feasibility was interrupted by COVID-19 but is nearing completion. At the time of publication 41 countries are participating in the SUNRISE study. Ethics and dissemination The SUNRISE protocol has received ethics approved from the University of Wollongong, Australia, and in each country by the applicable ethics committees. Approval is also sought from any relevant government departments or organisations. The results will inform global efforts to prevent childhood obesity and ensure young children reach their health and developmental potential. Findings on the correlates of movement behaviours can guide future interventions to improve the movement behaviours in culturally specific ways. Study findings will be disseminated via publications, conference presentations and may contribute to the development of local guidelines and public health interventions.
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