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1. Bleeding phenotype according to factor level in 825 children with nonsevere hemophilia: data from the PedNet cohort

Author

Alvarèz Román, M.T., Benitez Hidalgo, O., Blatny, J., Bührlen, M., Carvalho, M., Chambost, H., Rosa Cid, A., Oudot, C., Escuriola-Ettingshausen, C., Fischer, K., Van Geet, C., Glosli, H., Gretenkort Andersson, N., Ljung, R., Königs, C., Koskenvuo, M., Male, C., Stamm Mikkelsen, T., Molinari, A., Motwani, J., Nolan, B., d’Oiron, R., Oldenburg, J., Olivieri, M., Pergantou, H., Pinto, F., Ranta, S., Kartal-Kaess, M., Zápotocká, E., Kenet, G., Carcao, M., Rivard, G., de Kovel, Marloes S., Escuriola-Ettingshausen, Carmen, Königs, Christoph, Ranta, Susanna, and Fischer, Kathelijn

Published
2024
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3. Determinants of bleeding before and during immune tolerance in 222 boys with severe hemophilia A and inhibitors >5 BU

Author

Alvarèz Román, MT, Benitez Hidalgo, O, Blatny, J, Bührlen, M, Carvalho, M, Castaman, G, Chambost, H, Rosa Cid, A, Escuriola-Ettingshausen, C, Fischer, K, Van Geet, C, Gretenkort Andersson, N, Kartal-Kaess, M, Knudsen, H, Königs, C, Koskenvuo, M, Male, C, Stamm Mikkelsen, T, Molinari, A, Motwani, J, Nolan, B, d’Oiron, R, Oldenburg, J, Olivieri, M, Oudot, C, Pergantou, H, Pinto, F, Ranta, S, Zápotocká, E, Kenet, G, Carcao, M, Rivard, G, Fischer, Kathelijn, Kenet, Gili, Kurnik, Karin, Carcao, Manuel, Oldenburg, Johannes, Stamm-Mikkelsen, Torben, Cid Haro, Ana Rosa, Koskenvuo, Minna, Blatny, Jan, and Königs, Christoph

Published
2024
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4. VECSEL systems for quantum information processing with trapped beryllium ions

Author

Burd, S. C., Penttinen, J. -P., Hou, P. -Y., Knaack, H. M., Ranta, S., Mäki, M., Kantola, E., Guina, M., Slichter, D. H., Leibfried, D., and Wilson, A. C.

Subjects
Physics - Atomic Physics, Physics - Optics, Quantum Physics
Abstract

Two vertical-external-cavity surface-emitting laser (VECSEL) systems producing ultraviolet (UV) radiation at 235 nm and 313 nm are demonstrated. The systems are suitable for quantum information processing applications with trapped beryllium ions. Each system consists of a compact, single-frequency, continuous-wave VECSEL producing high-power near-infrared light, tunable over tens of nanometers. One system generates 2.4 W at 940 nm, using a gain mirror based on GaInAs/GaAs quantum wells, which is converted to 54 mW of 235 nm light for photoionization of neutral beryllium atoms. The other system uses a novel gain mirror based on GaInNAs/GaAs quantum-wells, enabling wavelength extension with manageable strain in the GaAs lattice. This system generates 1.6 W at 1252 nm, which is converted to 41 mW of 313 nm light that is used to laser cool trapped $^{9}$Be$^{+}$ ions and to implement quantum state preparation and detection. The 313 nm system is also suitable for implementing high-fidelity quantum gates, and more broadly, our results extend the capabilities of VECSEL systems for applications in atomic, molecular, and optical physics., Comment: 8 pages, 7 figures

Published
2020
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6. Bleeding phenotype according to factor level in 825 children with non-severe hemophilia; data from the PedNet cohort

Author

de Kovel, Marloes S., primary, Escuriola-Ettingshausen, Carmen, additional, Königs, Christoph, additional, Ranta, Susanna, additional, Fischer, Kathelijn, additional, Alvarèz Román, M.T., additional, Hidalgo, O Benitez, additional, Blatny, J., additional, Bührlen, M., additional, Carvalho, M., additional, Chambost, H., additional, Rosa Cid, A., additional, Oudot, C., additional, Escuriola-Ettingshausen, C., additional, Fischer, K., additional, Van GeetH Glosli, C., additional, Andersson, N Gretenkort, additional, Ljung, R., additional, Königs, C., additional, Koskenvuo, M., additional, Male, C., additional, Stamm Mikkelsen, T., additional, Molinari, A., additional, Motwani, J., additional, Nolan, B., additional, d’Oiron, R., additional, Oldenburg, J., additional, Olivieri, M., additional, Pergantou, H., additional, Pinto, F., additional, Ranta, S., additional, Kartal-Kaess, M., additional, Zápotocká, E., additional, Kenet, G., additional, Carcao, M., additional, and Rivard, G., additional

Published
2024
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8. OC 43.1 A Survey on Clinical Praxis in Initiating Emicizumab Prophylaxis in Previously Untreated Patients in the PedNet Centers

Author

Ranta, S., primary, Motwani, J., additional, Blatny, J., additional, Bührlen, M., additional, Carcao, M., additional, Chambost, H., additional, Escuriola-Ettingshausen, C., additional, Fischer, K., additional, Kartal-Kaess, M., additional, Kenet, G., additional, Male, C., additional, Nolan, B., additional, D’Oiron, R., additional, Olivieri, M., additional, Gretenkort Andersson, N., additional, and Koenigs, C., additional

Published
2023
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10. Determinants of bleeding before and during immune tolerance in 222 boys with severe hemophilia A and inhibitors >5 BU

Author

Fischer, Kathelijn, Kenet, Gili, Kurnik, Karin, Carcao, Manuel, Oldenburg, Johannes, Stamm-Mikkelsen, Torben, Cid Haro, Ana Rosa, Koskenvuo, Minna, Blatny, Jan, Königs, Christoph, Alvarèz Román, MT, Benitez Hidalgo, O, Blatny, J, Bührlen, M, Carvalho, M, Castaman, G, Chambost, H, Rosa Cid, A, Escuriola-Ettingshausen, C, Fischer, K, Van Geet, C, Gretenkort Andersson, N, Kartal-Kaess, M, Knudsen, H, Königs, C, Koskenvuo, M, Male, C, Stamm Mikkelsen, T, Molinari, A, Motwani, J, Nolan, B, d’Oiron, R, Oldenburg, J, Olivieri, M, Oudot, C, Pergantou, H, Pinto, F, Ranta, S, Zápotocká, E, Kenet, G, Carcao, M, and Rivard, G

Abstract

•In 222 boys with severe hemophilia A and inhibitors of >5 BU, bleeding was reduced from 6.1 to 4.4 per year during ITI.•Before ITI, bleeding was independent of inhibitor titer; during ITI, bleeding increased with higher inhibitor titer and nondaily ITI.

Published
2024
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13. Does minimal central nervous system involvement in childhood acute lymphoblastic leukemia increase the risk for central nervous system toxicity?

Author

Anastasopoulou, S. (Stavroula), Harila-Saari, A. (Arja), Als-Nielsen, B. (Bodil), Eriksson, M. A. (Mats Anders), Heyman, M. (Mats), Johannsdottir, I. M. (Inga Maria), Marquart, H. V. (Hanne Vibeke), Niinimäki, R. (Riitta), Pronk, C. J. (Cornelis Jan), Schmiegelow, K. (Kjeld), Vaitkeviciene, G. (Goda), Thastrup, M. (Maria), Ranta, S. (Susanna), Anastasopoulou, S. (Stavroula), Harila-Saari, A. (Arja), Als-Nielsen, B. (Bodil), Eriksson, M. A. (Mats Anders), Heyman, M. (Mats), Johannsdottir, I. M. (Inga Maria), Marquart, H. V. (Hanne Vibeke), Niinimäki, R. (Riitta), Pronk, C. J. (Cornelis Jan), Schmiegelow, K. (Kjeld), Vaitkeviciene, G. (Goda), Thastrup, M. (Maria), and Ranta, S. (Susanna)

Abstract

Central nervous system (CNS) involvement in childhood acute lymphoblastic leukemia (ALL) implicates enhanced intrathecal chemotherapy, which is related to CNS toxicity. Whether CNS involvement alone contributes to CNS toxicity remains unclear. We studied the occurrence of all CNS toxicities, seizures, and posterior reversible encephalopathy syndrome (PRES) in children with ALL without enhanced intrathecal chemotherapy with CNS involvement (n = 64) or without CNS involvement (n = 256) by flow cytometry. CNS involvement increased the risk for all CNS toxicities, seizures, and PRES in univariate analysis and, after adjusting for induction therapy, for seizures (hazard ratio [HR] = 3.33; 95% confidence interval [CI]: 1.26–8.82; p = 0.016) and PRES (HR = 4.85; 95% CI: 1.71–13.75; p = 0.003).

Published
2022

14. Acute central nervous system toxicity during treatment of pediatric acute lymphoblastic leukemia:phenotypes, risk factors and genotypes

Author

Anastasopoulou, S. (Stavroula), Bodil Als-NielsenNielsen, R. L. (Rikke Linnemann), Als-Nielsen, B. (Bodil), Banerjee, J. (Joanna), Eriksson, M. A. (Mats A.), Helenius, M. (Marianne), Heyman, M. M. (Mats M.), Johannsdottir, I. M. (Inga Maria), Jonsson, O. G. (Olafur Gisli), MacGregor, S. (Stuart), Mateos, M. K. (Marion K.), Mayoh, C. (Chelsea), Mikkel, S. (Sirje), Myrberg, I. H. (Ida Hed), Niinimäki, R. (Riitta), Schmiegelow, K. (Kjeld), Taskinen, M. (Mervi), Vaitkeviciene, G. (Goda), Warnqvist, A. (Anna), Wolthers, B. (Benjamin), Harila-Saari, A. (Arja), Ranta, S. (Susanna), Anastasopoulou, S. (Stavroula), Bodil Als-NielsenNielsen, R. L. (Rikke Linnemann), Als-Nielsen, B. (Bodil), Banerjee, J. (Joanna), Eriksson, M. A. (Mats A.), Helenius, M. (Marianne), Heyman, M. M. (Mats M.), Johannsdottir, I. M. (Inga Maria), Jonsson, O. G. (Olafur Gisli), MacGregor, S. (Stuart), Mateos, M. K. (Marion K.), Mayoh, C. (Chelsea), Mikkel, S. (Sirje), Myrberg, I. H. (Ida Hed), Niinimäki, R. (Riitta), Schmiegelow, K. (Kjeld), Taskinen, M. (Mervi), Vaitkeviciene, G. (Goda), Warnqvist, A. (Anna), Wolthers, B. (Benjamin), Harila-Saari, A. (Arja), and Ranta, S. (Susanna)

Abstract

Central nervous system (CNS) toxicity is common at diagnosis and during treatment of pediatric acute lymphoblastic leukemia (ALL). We studied CNS toxicity in 1,464 children aged 1.0–17.9 years, diagnosed with ALL and treated according to the Nordic Society of Pediatric Hematology and Oncology ALL2008 protocol. Genome-wide association studies, and a candidate single-nucleotide polymorphism (SNP; n=19) study were performed in 1,166 patients. Findings were validated in an independent Australian cohort of children with ALL (n=797) in whom two phenotypes were evaluated: diverse CNS toxicities (n=103) and methotrexate-related CNS toxicity (n=48). In total, 135/1,464 (9.2%) patients experienced CNS toxicity for a cumulative incidence of 8.7% (95% confidence interval: 7.31–10.20) at 12 months from diagnosis. Patients aged ≥10 years had a higher risk of CNS toxicity than had younger patients (16.3% vs. 7.4%; P<0.001). The most common CNS toxicities were posterior reversible encephalopathy syndrome (n=52, 43 with seizures), sinus venous thrombosis (n=28, 9 with seizures), and isolated seizures (n=16). The most significant SNP identified by the genome-wide association studies did not reach genomic significance (lowest P-value: 1.11x10-6), but several were annotated in genes regulating neuronal functions. In candidate SNP analysis, ATXN1 rs68082256, related to epilepsy, was associated with seizures in patients <10 years (P=0.01). ATXN1 rs68082256 was validated in the Australian cohort with diverse CNS toxicities (P=0.04). The role of ATXN1 as well as the novel SNP in neurotoxicity in pediatric ALL should be further explored.

Published
2022

15. Changes in body mass index during treatment of childhood acute lymphoblastic leukemia with the Nordic ALL2008 protocol

Author

Egnell, C. (Christina), Närhinen, H. (Hanna), Merker, A. (Andrea), Jonsson, Ó. G. (Ólafur G.), Lepik, K. (Kristi), Niinimäki, R. (Riitta), Schmiegelow, K. (Kjeld), Stabell, N. (Niklas), Klug Albertsen, B. (Birgitte), Vaitkeviciene, G. (Goda), Ranta, S. (Susanna), Harila-Saari, A. (Arja), Egnell, C. (Christina), Närhinen, H. (Hanna), Merker, A. (Andrea), Jonsson, Ó. G. (Ólafur G.), Lepik, K. (Kristi), Niinimäki, R. (Riitta), Schmiegelow, K. (Kjeld), Stabell, N. (Niklas), Klug Albertsen, B. (Birgitte), Vaitkeviciene, G. (Goda), Ranta, S. (Susanna), and Harila-Saari, A. (Arja)

Abstract

Objectives: Children with acute lymphoblastic leukemia (ALL) have a tendency to gain weight during treatment. As overweight and obesity associate with health problems, prophylactic interventions are warranted. Therefore, it is important to identify the children most prone to gain weight. Methods: Patients aged 2.0–17.9 years at ALL diagnosis were identified from the NOPHO ALL2008 registry. Registry data was complemented with height and weight at the end of therapy from questionnaires. Body mass index (BMI) was classified according to international age- and sex-adjusted International Obesity Task Force BMI cut-offs. BMI values were transformed into standard deviation scores (SDS) to calculate the difference in BMISDS during treatment. Results: Data on BMI change were available for 765 children. Overweight and obesity doubled during treatment: 9.7% were overweight and 2.1% obese at diagnosis and 21.8% and 5.4% at the end of therapy, respectively. The mean BMISDS change was +0.64. Younger (2.0–5.9 years) and healthy weight children were most prone to become overweight (mean change in BMI SDS +0.85 and + 0.65, respectively). Conclusions: Younger children (2.0–5.9 years) with healthy weight at diagnosis were most prone to becoming overweight and therefore are an important group to target while considering interventions.

Published
2022

16. Asparaginase enzyme activity levels and toxicity in childhood acute lymphoblastic leukemia:a NOPHO ALL2008 study

Author

Lynggaard, L. S. (Line Stensig), Rank, C. U. (Cecilie Utke), Hansen, S. N. (Stefan Nygaard), Højfeld, S. G. (Sofie Gottschalk), Henriksen, L. T. (Louise Tram), Jarvis, K. B. (Kirsten Brunsvig), Ranta, S. (Susanna), Niinimäki, R. (Riitta), Harila-Saari, A. (Arja), Wolthers, B. O. (Benjamin O.), Frandsen, T. L. (Thomas L.), Heyman, M. (Mats), Schmiegelow, K. (Kjeld), Albertsen, B. K. (Birgitte Klug), Lynggaard, L. S. (Line Stensig), Rank, C. U. (Cecilie Utke), Hansen, S. N. (Stefan Nygaard), Højfeld, S. G. (Sofie Gottschalk), Henriksen, L. T. (Louise Tram), Jarvis, K. B. (Kirsten Brunsvig), Ranta, S. (Susanna), Niinimäki, R. (Riitta), Harila-Saari, A. (Arja), Wolthers, B. O. (Benjamin O.), Frandsen, T. L. (Thomas L.), Heyman, M. (Mats), Schmiegelow, K. (Kjeld), and Albertsen, B. K. (Birgitte Klug)

Abstract

Asparaginase treatment is a mainstay in contemporary treatment of acute lymphoblastic leukemia (ALL), but substantial asparaginase-related toxicity may lead to jeopardized protocol compliance and compromises survival. We investigated the association between risk of asparaginase-associated toxicities (AspTox) and asparaginase enzyme activity (AEA) levels in 1155 children aged 1.0 to 17.9 years, diagnosed with ALL between July 2008 and March 2016, and treated according to the Nordic Society of Pediatric Hematology and Oncology (NOPHO) ALL2008 protocol. Patients with ≥2 blood samples for AEA measurement drawn 14 ± 2 days after asparaginase administration were included (6944 trough values). AEA was measurable (or >0 IU/L) in 955 patients, whereas 200 patients (17.3%) had asparaginase inactivation and few AspTox recorded. A time-dependent multiple Cox model of time to any first asparaginase-associated toxicity adjusted for sex and age was used. For patients with measurable AEA, we found a hazard ratio (HR) of 1.17 per 100 IU/L increase in median AEA (95% confidence interval [CI], 0.98–1.41; P = 0.09). For pancreatitis, thromboembolism, and osteonecrosis, the HRs were 1.40 (95% CI, 1.12–1.75; P = 0.002), 0.99 (95% CI, 0.70–1.40; P = 0.96), and 1.36 (95% CI, 1.04–1.77; P = 0.02) per 100 IU/L increase in median AEA, respectively. No significant decrease in the risk of leukemic relapse was found: HR 0.88 per 100 IU/L increase in AEA (95% CI, 0.66–1.16; P = 0.35). In conclusion, these results emphasize that overall AspTox and relapse are not associated with AEA levels, yet the risk of pancreatitis and osteonecrosis increases with increasing AEA levels.

Published
2022

17. Obesity as a predictor of treatment-related toxicity in children with acute lymphoblastic leukaemia

Author

Egnell, C. (Christina), Heyman, M. (Mats), Jónsson, Ó. G. (Ólafur Gisli), Raja, R. A. (Raheel A.), Niinimäki, R. (Riitta), Albertsen, B. K. (Birgitte Klug), Schmiegelow, K. (Kjeld), Stabell, N. (Niklas), Vaitkeviciene, G. (Goda), Lepik, K. (Kristi), Harila-Saari, A. (Arja), Ranta, S. (Susanna), Egnell, C. (Christina), Heyman, M. (Mats), Jónsson, Ó. G. (Ólafur Gisli), Raja, R. A. (Raheel A.), Niinimäki, R. (Riitta), Albertsen, B. K. (Birgitte Klug), Schmiegelow, K. (Kjeld), Stabell, N. (Niklas), Vaitkeviciene, G. (Goda), Lepik, K. (Kristi), Harila-Saari, A. (Arja), and Ranta, S. (Susanna)

Abstract

Obesity is associated with poor outcomes in childhood acute lymphoblastic leukaemia (ALL). We explored whether severe treatment-related toxicity and treatment delays could explain this observation. This study included 1 443 children aged 2·0–17·9 years with ALL treated with the Nordic Society of Pediatric Haematology and Oncology (NOPHO) ALL2008 non-high-risk protocol. Prospective treatment-related toxicities registered every three-month interval were used. Patients were classified according to sex- and age-adjusted international childhood cut-off values, corresponding to adult body mass index: underweight, <17 kg/m²; healthy weight, 17 to <25 kg/m² overweight 25 to <30 kg/m²; and obese, ≥30 kg/m². Obese children had a higher incidence rate ratio (IRR) for severe toxic events {IRR: 1·55 [95% confidence interval (CI) 1·07–2·50]}, liver and kidney failures, bleeding, abdominal complication, suspected unexpected severe adverse reactions and hyperlipidaemia compared with healthy-weight children. Obese children aged ≥10 years had increased IRRs for asparaginase-related toxicities compared with healthy-weight older children: thromboses [IRR 2·87 (95% CI 1·00–8·21)] and anaphylactic reactions [IRR 7·95 (95% CI 2·15–29·37)] as well as higher risk for truncation of asparaginase [IRR 3·54 (95% CI 1·67–7·50)]. The high prevalence of toxicity and a higher risk of truncation of asparaginase may play a role in the poor prognosis of obese children aged ≥10 years with ALL.

Published
2022

18. Modeling and Measuring the Power Output of Vertical Bifacial Solar Panels in Nordic Conditions

Author

Jouttijärvi, S., Tok, M., Karttunen, L., Huerta Medina, H., Ranta, S., and Miettunen, K.

Subjects
PV Module Performance – Modelling, Testing, Standards, Photovoltaic Modules and BoS Components
Abstract

8th World Conference on Photovoltaic Energy Conversion; 507-511, Predicting the power production of solar photovoltaic (PV) panels is necessary for successful commissioning and operation of PV power systems. Lifetime estimations are required to analyze commercial viability of the planned PV system, whereas hourly and daily production estimations are important considering operation in the electricity market. Here, a specific setup, consisting of vertically mounted bifacial solar panels in a high-latitude location, is monitored. Measured power production is compared to modelled productions achieved by several simple modelling approaches. The aim is to analyze how specific and high-quality data is actually needed to model accurately the total energy production in several temporal scales, ranging from one-minute to multi-year. The results help to understand the required complicity for pre-installation production estimations and thus contribute to increasing bankability of vertical bifacial PV systems.

Published
2022
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19. Bifacial PV Canopy System in High Latitude, Model Development and Validation with First Months of Monitoring Data

Author

Ranta, S., Huerta Medina, H., Jouttijärvi, S., Heinonen, A., and Driesse, A.

Subjects
Engineering Design and Installation of PV Systems, PV Systems Engineering, Integrated/Applied PV
Abstract

8th World Conference on Photovoltaic Energy Conversion; 1132-1136, A seaside canopy with an integrated bifacial photovoltaic system (PV) was set up for a residential district in the city of Naantali, Finland. This system is part of the PV demonstration built for the Naantali Housing Fair in 2022 and integrates a bifacial 100 kWp photovoltaic power plant in the residential district. A modelling-based simulation tool was earlier developed to predict PV performance of bifacial systems in Nordic conditions for vertical configurations. The model was validated by comparing the simulation results with performance data recorded from East/West vertical bifacial arrays at separate locations. The aim of this study is to find the best tools to model canopy systems in case, especially the incident irradiance calculation for lower tilt angles, high clearance, and high latitude configurations to accurately forecast the energy yield. A more advanced ray-tracing tool Radiance was used for the study. The aim was to define the minimum level of complexity needed for a reliable model.

Published
2022
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20. Data Processing for Photovoltaic Performance Loss Analysis in Nordic Climate Conditions

Author

Poskela, A., Karttunen, L., Palonen, H., Huerta Medina, H., Ranta, S., and Miettunen, K.

Subjects
PV Module Performance – Modelling, Testing, Standards, Photovoltaic Modules and BoS Components
Abstract

8th World Conference on Photovoltaic Energy Conversion; 666-669, The aim of this work is to demonstrate a photovoltaic performance loss analysis workflow for a rooftop system installed in Nordic climate. There is a variety of methods for evaluating the performance loss of a PV system, but they give different results, making comparisons between studies challenging. This study uses several combinations of filters and statistical methods to calculate the performance loss rate, giving values between 1.5 and 3.6 %/year. The range of values is large and steps should be taken to minimise the variance and reach a value that can be compared with other studies. One method to reduce variance in the calculated performance loss rate is to improve data quality, and thus reduce the impact the data filters will have on the analysis. Data quality can be improved by taking great care in the design of the measurement setup and by monitoring the data quality as the measurement is ongoing. Comparability can also be improved during the data analysis by performing it with multiple methods and data filters, as in this work, thus generating a distribution of performance loss rates that can be handled with statistical methods or compared individually with other studies using similar methods.

Published
2022
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24. Energy Management System for Electric Bus Charging Hub with Local Storage and PV Energy Integration

Author

Ranta, S., Huerta, H., Roggo, D., Huhtala, O., Heinonen, A., Lavonen, V., and Pouget, J.

Subjects
Energy System Integration, PV Applications, Integration and Storage
Abstract

38th European Photovoltaic Solar Energy Conference and Exhibition; 1364-1369, A modeling-based simulation and hardware-based emulator are developed to facilitate smart design of the future e-bus and e-truck charging systems and infrastructures. An existing e-bus line in the City of Turku, in Southwest Finland, was the starting point for this work. Aim of the work is to develop tools for the cities, municipalities, e-bus operators, and other decision makers to design and procure more sustainable and efficient transportation systems. Our study focuses on the accurate model of a charging hub, available PV resource and an advanced Energy Management System (EMS) to control energy flows.

Published
2021
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25. Modeling Tool Validation for the Yield Prediction of Bifacial East West Vertical PV System in Nordic Conditions

Author

Ranta, S., Huerta, H., Huhtala, O., Heinonen, A., and Stein, J.S.

Subjects
PV Systems and Storage – Modelling, Design, Operation and Performance, Solar Resource and Forecasting
Abstract

37th European Photovoltaic Solar Energy Conference and Exhibition; 1460-1465, A modeling-based simulation tool with a graphical user interface (GUI) was developed to predict PV performance of bifacial systems. The model was validated by comparing it with performance data measured from East/West vertical bifacial arrays in different locations. The main outdoor test system is at the Turku University of Applied Sciences (TUAS) in Turku Finland (Lat. 60.44 N, Long. 22.29 E). The aim is to predict the energy yield from this system configuration in northern latitudes. The benefits from E-W vertical bifacial systems have been well documented and include higher energy yields, better load matching, reduction in soiling and snow covering, just to mention a few. Our study focuses on the accuracy of the model to reproduce collected data at the site, by using different sources of meteorological data.

Published
2020
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26. Impact of body mass index on relapse in children with acute lymphoblastic leukemia treated according to Nordic treatment protocols

Author

Egnell, C. (Christina), Ranta, S. (Susanna), Banerjee, J. (Joanna), Merker, A. (Andrea), Niinimäki, R. (Riitta), Lund, B. (Bendik), Mogensen, P. R. (Pernille Rudebeck), Jonsson, Ó. G. (Ólafur G.), Vaitkeviciene, G. (Goda), Lepik, K. (Kristi), Forslund, A. (Anders), Heyman, M. (Mats), Harila‐Saari, A. (Arja), Egnell, C. (Christina), Ranta, S. (Susanna), Banerjee, J. (Joanna), Merker, A. (Andrea), Niinimäki, R. (Riitta), Lund, B. (Bendik), Mogensen, P. R. (Pernille Rudebeck), Jonsson, Ó. G. (Ólafur G.), Vaitkeviciene, G. (Goda), Lepik, K. (Kristi), Forslund, A. (Anders), Heyman, M. (Mats), and Harila‐Saari, A. (Arja)

Abstract

Objectives: High body mass index (BMI) is associated with poorer survival in childhood acute lymphoblastic leukemia (ALL), but the actual impact on the risk of relapse still needs to be clarified. We evaluated the impact of BMI at diagnosis on the risk of relapse in children with ALL treated according to Nordic Society of Paediatric Haematology and Oncology (NOPHO) protocols. Method: In a multicenter study, we collected data on BMI at diagnosis and outcome of 2558 children aged 2.0‐17.9 years diagnosed between 1992 and 2016. Patients were divided into four groups according to International Obesity Task Force (IOTF) childhood BMI cut‐offs: underweight, <17; healthy weight, 17‐25; overweight, 25‐30; and obese, ≥30 kg/m². Results: In Cox multivariate regression analyses, an increased risk of relapse was observed in children aged 10‐17.9 years with unhealthy BMI at diagnosis (underweight hazard ratio HR: 2.90 [95% confidence interval: 1.24‐6.78], P = .01; overweight, HR: 1.95 [1.11‐3.43], P = .02, and obese HR: 4.32 [95% 2.08‐8.97], P < .001), compared to children with healthy weight. BMI had no impact on relapse in children under 10 years of age. Conclusion: High BMI, and especially obesity at diagnosis, is an independent adverse prognostic factor for relapse in older children with ALL.

Published
2020

35. Self-Consumption Rate Achieved by the Bifacial East-West Vertical PV System Compared to the Conventional South Facing System in Nordic Conditions

Author

Ranta, S., Stein, J.S., Huerta, H., Heinonen, A., and Whitney, E.

Subjects
PV Applications and Integration, PV Driven Energy Management and System Integration
Abstract

36th European Photovoltaic Solar Energy Conference and Exhibition; 1702-1705, This paper presents a comparison between bifacial east-west vertical (EWV) and conventional south facing monofacial PV system in Nordic conditions. Special attention is given to the self-consumption rate reached at each system when residential loads are considered. Two test systems with bifacial EWV solar modules were installed, one on the rooftop of the premises at Turku University of Applied Sciences (TUAS) in Finland and another bifacial and monofacial system in Fairbanks, Alaska at the campus of the University of Alaska. System performance was monitored and recorded once per minute for post analysis. The real residential PV system at near proximity to the Turku test site was selected as a reference. The performance of the systems was monitored for a full calendar year in Finland and for two months in Alaska. This yield data is compared to the real-world residential load data collected earlier from the Turku region. As a result, the self-consumption rate of the systems can be calculated.

Published
2019
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36. Mode of delivery in hemophilia: vaginal delivery and Cesarean section carry similar risks for intracranial hemorrhages and other major bleeds

Author

Andersson, NG, Chalmers, EA, Kenet, G, Ljung, R, Makipernaa, A, Chambost, H, Roca, CA, Roman, MTA, Buhrlen, M, van den Berg, HM, Chalmers, E, Cid, AR, Claeyssens, S, Escuriola, C, Fischer, K, Van Geet, C, Kobelt, R, Konigs, C, Kurnik, K, Liesner, R, Molinari, A, Muntean, W, Nolan, B, Oldenburg, J, Garrido, RP, Platokouki, H, Rafowicz, A, Ranta, S, Santagostino, E, Mancuso, ME, Bonomi, AB, Mikkelsen, TS, Thomas, A, Williams, M, Carcao, M, Rivard, G, and PedNet Haemophilia Res Fdn

Abstract

The optimal mode of delivery for a pregnant hemophilia carrier is still a matter of debate. The aim of the study was to determine the incidence of intracranial hemorrhage and other major bleeds in neonates with moderate and severe hemophilia in relationship to mode of delivery and known family history. A total of 926 neonates, 786 with severe and 140 with moderate hemophilia were included in this PedNet multicenter study. Vaginal delivery was performed in 68.3% (n=633) and Cesarean section in 31.6% (n=293). Twenty intracranial hemorrhages (2.2%) and 44 other major bleeds (4.8%) occurred. Intracranial hemorrhages occurred in 2.4% of neonates following vaginal delivery compared to 1.7% after Cesarean section (P=not significant); other major bleeds occurred in 4.2% born by vaginal delivery and in 5.8% after Cesarean section (P=not significant). Further analysis of subgroups (n=813) identified vaginal delivery with instruments being a significant risk factor for both intracranial hemorrhages and major bleeds (Relative Risk: 4.78-7.39; P

Published
2019

37. Infrared and Electroluminescence Imaging for PV Field Applications: An Overview of the Latest Report by IEA PVPS Task 13

Author

Tsanakas, J.A., Jahn, U., Herz, M., Köntges, M., Parlevliet, D., Paggi, M., Stein, J.S., Berger, K.A., Kubicek, B., Ranta, S., French, R.H., Richter, M., and Tanahashi, T.

Subjects
PV Systems - Performance, Applications and Integration, Operation, Performance and Maintenance of PV Systems
Abstract

35th European Photovoltaic Solar Energy Conference and Exhibition; 1440-1447, This paper presents an overview of the latest research and technical reporting activity of TASK13 participants, within the Subtask 3.3 (“Characterization of PV Module Condition in the Field”); and particularly, key findings of the new “Review on Infrared (IR) and Electroluminescence (EL) Imaging for PV Field Applications” TASK13 Report. Goal of the latter is to provide guidelines and recommendations for using IR and EL imaging, in order to identify and assess specific failure modes of PV modules and systems in field applications. As such, the paper provides first a discussion on the relevant state-of-the-art and particularly the new IEC standards, Technical Specifications (TS) and guidelines. It also describes current practices for IR and EL imaging of PV modules and systems, looking at environmental and device requirements and the interpretation of sample patterns with abnormalities. In addition, examples of typical inspection results are given, showing characteristic IR/thermal and EL signatures of different failure modes occurring in fielded PV modules and arrays.

Published
2018
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43. RAD51B in familial breast cancer.

Author

Antill Y., Garcia-Closas M., Michailidou K., Links M., Grygiel J., Hill J., Brand A., Byth K., Jaworski R., Harnett P., Wain G., Purdie D., Whiteman D., Ward B., Papadimos D., Crandon A., Horwood K., Obermair A., Perrin L., Wyld D., Nicklin J., Davy S.A.-M., Oehler M.K., Hall C., Dodd T., Healy T., Pittman K., Henderson D., Miller J., Pierdes J., Achan A., Blomfield P., Challis D., McIntosh R., Parker A., Brown B., Rome R., Allen D., Grant P., Hyde S., Laurie R., Robbie M., Healy D., Manolitsas T., McNealage J., Rogers P., Susil B., Sumithran E., Simpson I., Haviv I., Rischin D., Johnson D., Lade S., Loughrey M., O'Callaghan N., Murray B., Mileshkin L., Allan P., Billson V., Pyman J., Neesham D., Quinn M., Hamilton A., McNally O., Underhill C., Ng L.F., Blum R., Ganju V., Hammond I., Leung Y., McCartney A., Stewart C., Zeps N., Bell R., Harris M., Healey S., Jobling T., Jones A., Wilson J., Pelttari L.M., Khan S., Vuorela M., Kiiski J.I., Vilske S., Nevanlinna V., Ranta S., Schleutker J., Winqvist R., Kallioniemi A., Dork T., Bogdanova N.V., Figueroa J., Pharoah P.D.P., Schmidt M.K., Dunning A.M., Bolla M.K., Dennis J., Wang Q., Hopper J.L., Southey M.C., Rosenberg E.H., Fasching P.A., Beckmann M.W., Peto J., Dos-Santos-silva I., Sawyer E.J., Tomlinson I., Burwinkel B., Surowy H., Guenel P., Truong T., Bojesen S.E., Nordestgaard B.G., Benitez J., Gonzalez-Neira A., Neuhausen S.L., Anton-Culver H., Brenner H., Arndt V., Meindl A., Schmutzler R.K., Brauch H., Bruning T., Lindblom A., Margolin S., Mannermaa A., Hartikainen J.M., Chenevix-Trench G., Van Dyck L., Janssen H., Chang-Claude J., Rudolph A., Radice P., Peterlongo P., Hallberg E., Olson J.E., Giles G.G., Milne R.L., Haiman C.A., Schumacher F., Simard J., Dumont M., Kristensen V., Borresen-Dale A.-L., Zheng W., Beeghly-Fadiel A., Grip M., Andrulis I.L., Glendon G., Devilee P., Seynaeve C., Hooning M.J., Collee M., Cox A., Cross S.S., Shah M., Luben R.N., Hamann U., Torres D., Jakubowska A., Lubinski J., Couch F.J., Yannoukakos D., Orr N., Swerdlow A., Darabi H., Li J., Czene K., Hall P., Easton D.F., Mattson J., Blomqvist C., Aittomaki K., Nevanlinna H., Aghmesheh M., Amor D., Andrews L., Armitage S., Arnold L., Balleine R., Bankier A., Bastick P., Beesley J., Beilby J., Bennett B., Bennett I., Berry G., Blackburn A., Bogwitz M., Brennan M., Brown M., Buckley M., Burgess M., Burke J., Butow P., Byron K., Callen D., Campbell I., Chauhan D., Christian A., Clarke C., Colley A., Cotton D., Crook A., Cui J., Culling B., Cummings M., Dawson S.-J., DeFazio A., Delatycki M., Dickson R., Dixon J., Dobrovic A., Dudding T., Edkins T., Edwards S., Eisenbruch M., Farshid G., Fawcett S., Fellows A., Fenton G., Field M., Firgaira F., Flanagan J., Fleming J., Fong P., Forbes J., Fox S., French J., Friedlander M., Gaff C., Gardner M., Gattas M., George P., Gill G., Goldblatt J., Greening S., Grist S., Haan E., Hardie K., Hart S., Hayward N., Heiniger L., Humphrey E., Hunt C., James P., Jenkins M., Kefford R., Kidd A., Kiely B., Kirk J., Koehler J., Kollias J., Kovalenko S., Lakhani S., Leaming A., Leary J., Lim J., Lindeman G., Lipton L., Lobb L., Mann G., Marsh D., McLachlan S.A., Meiser B., Meldrum C., Mitchell G., Newman B., Nightingale S., O'Connell S., O'Loughlin I., Osborne R., Pachter N., Patterson B., Peters L., Phillips K., Price M., Purser L., Reeve T., Reeve J., Richards R., Rickard E., Robinson B., Rudzki B., Saleh M., Salisbury E., Sambrook J., Saunders C., Saunus J., Sayer R., Scott E., Scott R., Scott C., Seshadri R., Sexton A., Sharma R., Shelling A., Simpson P., Spurdle A., Suthers G., Sykes P., Taylor D., Taylor J., Thierry B., Thompson E., Thorne H., Townshend S., Trainer A., Tran L., Tucker K., Tyler J., Visvader J., Walker L., Walpole I., Ward R., Waring P., Warner B., Warren G., Williams R., Winship I., Wu K., Young M.A., Stuart-Harris R., Kirsten F., Rutovitz J., Clingan P., Glasgow A., Proietto A., Braye S., Otton G., Shannon J., Bonaventura T., Stewart J., Begbie S., Bell D., Baron-Hay S., Ferrier A., Gard G., Nevell D., Pavlakis N., Valmadre S., Young B., Camaris C., Crouch R., Edwards L., Hacker N., Marsden D., Robertson G., Beale P., Beith J., Carter J., Dalrymple C., Houghton R., Russell P., Anderson L., Antill Y., Garcia-Closas M., Michailidou K., Links M., Grygiel J., Hill J., Brand A., Byth K., Jaworski R., Harnett P., Wain G., Purdie D., Whiteman D., Ward B., Papadimos D., Crandon A., Horwood K., Obermair A., Perrin L., Wyld D., Nicklin J., Davy S.A.-M., Oehler M.K., Hall C., Dodd T., Healy T., Pittman K., Henderson D., Miller J., Pierdes J., Achan A., Blomfield P., Challis D., McIntosh R., Parker A., Brown B., Rome R., Allen D., Grant P., Hyde S., Laurie R., Robbie M., Healy D., Manolitsas T., McNealage J., Rogers P., Susil B., Sumithran E., Simpson I., Haviv I., Rischin D., Johnson D., Lade S., Loughrey M., O'Callaghan N., Murray B., Mileshkin L., Allan P., Billson V., Pyman J., Neesham D., Quinn M., Hamilton A., McNally O., Underhill C., Ng L.F., Blum R., Ganju V., Hammond I., Leung Y., McCartney A., Stewart C., Zeps N., Bell R., Harris M., Healey S., Jobling T., Jones A., Wilson J., Pelttari L.M., Khan S., Vuorela M., Kiiski J.I., Vilske S., Nevanlinna V., Ranta S., Schleutker J., Winqvist R., Kallioniemi A., Dork T., Bogdanova N.V., Figueroa J., Pharoah P.D.P., Schmidt M.K., Dunning A.M., Bolla M.K., Dennis J., Wang Q., Hopper J.L., Southey M.C., Rosenberg E.H., Fasching P.A., Beckmann M.W., Peto J., Dos-Santos-silva I., Sawyer E.J., Tomlinson I., Burwinkel B., Surowy H., Guenel P., Truong T., Bojesen S.E., Nordestgaard B.G., Benitez J., Gonzalez-Neira A., Neuhausen S.L., Anton-Culver H., Brenner H., Arndt V., Meindl A., Schmutzler R.K., Brauch H., Bruning T., Lindblom A., Margolin S., Mannermaa A., Hartikainen J.M., Chenevix-Trench G., Van Dyck L., Janssen H., Chang-Claude J., Rudolph A., Radice P., Peterlongo P., Hallberg E., Olson J.E., Giles G.G., Milne R.L., Haiman C.A., Schumacher F., Simard J., Dumont M., Kristensen V., Borresen-Dale A.-L., Zheng W., Beeghly-Fadiel A., Grip M., Andrulis I.L., Glendon G., Devilee P., Seynaeve C., Hooning M.J., Collee M., Cox A., Cross S.S., Shah M., Luben R.N., Hamann U., Torres D., Jakubowska A., Lubinski J., Couch F.J., Yannoukakos D., Orr N., Swerdlow A., Darabi H., Li J., Czene K., Hall P., Easton D.F., Mattson J., Blomqvist C., Aittomaki K., Nevanlinna H., Aghmesheh M., Amor D., Andrews L., Armitage S., Arnold L., Balleine R., Bankier A., Bastick P., Beesley J., Beilby J., Bennett B., Bennett I., Berry G., Blackburn A., Bogwitz M., Brennan M., Brown M., Buckley M., Burgess M., Burke J., Butow P., Byron K., Callen D., Campbell I., Chauhan D., Christian A., Clarke C., Colley A., Cotton D., Crook A., Cui J., Culling B., Cummings M., Dawson S.-J., DeFazio A., Delatycki M., Dickson R., Dixon J., Dobrovic A., Dudding T., Edkins T., Edwards S., Eisenbruch M., Farshid G., Fawcett S., Fellows A., Fenton G., Field M., Firgaira F., Flanagan J., Fleming J., Fong P., Forbes J., Fox S., French J., Friedlander M., Gaff C., Gardner M., Gattas M., George P., Gill G., Goldblatt J., Greening S., Grist S., Haan E., Hardie K., Hart S., Hayward N., Heiniger L., Humphrey E., Hunt C., James P., Jenkins M., Kefford R., Kidd A., Kiely B., Kirk J., Koehler J., Kollias J., Kovalenko S., Lakhani S., Leaming A., Leary J., Lim J., Lindeman G., Lipton L., Lobb L., Mann G., Marsh D., McLachlan S.A., Meiser B., Meldrum C., Mitchell G., Newman B., Nightingale S., O'Connell S., O'Loughlin I., Osborne R., Pachter N., Patterson B., Peters L., Phillips K., Price M., Purser L., Reeve T., Reeve J., Richards R., Rickard E., Robinson B., Rudzki B., Saleh M., Salisbury E., Sambrook J., Saunders C., Saunus J., Sayer R., Scott E., Scott R., Scott C., Seshadri R., Sexton A., Sharma R., Shelling A., Simpson P., Spurdle A., Suthers G., Sykes P., Taylor D., Taylor J., Thierry B., Thompson E., Thorne H., Townshend S., Trainer A., Tran L., Tucker K., Tyler J., Visvader J., Walker L., Walpole I., Ward R., Waring P., Warner B., Warren G., Williams R., Winship I., Wu K., Young M.A., Stuart-Harris R., Kirsten F., Rutovitz J., Clingan P., Glasgow A., Proietto A., Braye S., Otton G., Shannon J., Bonaventura T., Stewart J., Begbie S., Bell D., Baron-Hay S., Ferrier A., Gard G., Nevell D., Pavlakis N., Valmadre S., Young B., Camaris C., Crouch R., Edwards L., Hacker N., Marsden D., Robertson G., Beale P., Beith J., Carter J., Dalrymple C., Houghton R., Russell P., and Anderson L.

Abstract

Common variation on 14q24.1, close to RAD51B, has been associated with breast cancer: rs999737 and rs2588809 with the risk of female breast cancer and rs1314913 with the risk of male breast cancer. The aim of this study was to investigate the role of RAD51B variants in breast cancer predisposition, particularly in the context of familial breast cancer in Finland. We sequenced the coding region of RAD51B in 168 Finnish breast cancer patients from the Helsinki region for identification of possible recurrent founder mutations. In addition, we studied the known rs999737, rs2588809, and rs1314913 SNPs and RAD51B haplotypes in 44,791 breast cancer cases and 43,583 controls from 40 studies participating in the Breast Cancer Association Consortium (BCAC) that were genotyped on a custom chip (iCOGS). We identified one putatively pathogenic missense mutation c.541C>T among the Finnish cancer patients and subsequently genotyped the mutation in additional breast cancer cases (n = 5259) and population controls (n = 3586) from Finland and Belarus. No significant association with breast cancer risk was seen in the meta-analysis of the Finnish datasets or in the large BCAC dataset. The association with previously identified risk variants rs999737, rs2588809, and rs1314913 was replicated among all breast cancer cases and also among familial cases in the BCAC dataset. The most significant association was observed for the haplotype carrying the risk-alleles of all the three SNPs both among all cases (odds ratio (OR): 1.15, 95% confidence interval (CI): 1.11-1.19, P = 8.88 x 10-16) and among familial cases (OR: 1.24, 95% CI: 1.16-1.32, P = 6.19 x 10-11), compared to the haplotype with the respective protective alleles. Our results suggest that loss-of-function mutations in RAD51B are rare, but common variation at the RAD51B region is significantly associated with familial breast cancer risk.

Published
2017

44. Venous thrombosis in children and adolescents with Hodgkin lymphoma in Sweden

Author

Schonning, A., Karlen, J., Frisk, T., Heyman, M., Svahn, J. E., Ora, I., Kawan, L., Holmqvist Persson, Britt-Marie, Björklund, C., Harila-Saari, A., Ranta, S., Schonning, A., Karlen, J., Frisk, T., Heyman, M., Svahn, J. E., Ora, I., Kawan, L., Holmqvist Persson, Britt-Marie, Björklund, C., Harila-Saari, A., and Ranta, S.

Abstract

Introduction: Pediatric patients with Hodgkin lymphoma (HL) have several risk factors for venous thromboembolism (VTE). Although these patients are occasionally treated with thromboprophylaxis, no guidelines are implemented in Sweden. Scarce data from adult patients indicate an increased risk of VTE, but pediatric data is largely missing. Given the favorable overall survival of HL, there should reasonably be more focus on preventing complications. Materials and ethods: We conducted a retrospective cohort study, including all patients registered in the Childhood Cancer Registry under the age of 18 years diagnosed with HL between January 2005 and December 2015 in Sweden. Results: Data was retrieved from the medical records of all 163 patients (100%) at six Swedish pediatric cancer centers. The incidence of VTE was 7.7% (symptomatic VTE 3.9%). The median follow-up was 3.4 years (range 0.3-10.5). Only five patients (3.1%) were treated with thromboprophylaxis. All VTE events occurred in the older age category (11-17 years) and all but one (92.7%) had a mediastinal mass. While the VTE did not significantly affect the treatment of HL, it caused increased morbidity and 2/12 developed a post-thrombotic syndrome. No significant risk factors for VTE were identified. Conclusions: VTE is a relatively common complication of HL and its treatment, causing increased acute and long-term morbidity. However, due to limited number of events we could not demonstrate risk-factors for VTE that would identify patients who might benefit from thromboprophylaxis. (C) 2017 Elsevier Ltd. All rights reserved., Funding Agencies|Swedish Childhood Cancer Foundation, Sweden [AHS KF2010-0005, MH OI2014-0001, IO KF2015-008, SR TJ2016-0018]

Published
2017
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45. REPORT OF THE 2ND INTERNATIONAL WORKSHOP ON HUMAN-CHROMOSOME-8 MAPPING 1994

Author

Spurr, N, Blanton, S, Bookstein, R, Clarke, R, Cottingham, R, Daiger, S, Drayna, D, Faber, P, Horrigan, S, Kas, K, Kirchgessner, C, Kumar, S, Leach, R, Luedecke, H, Nakamura, Y, Pebusque, M, Ranta, S, Sim, E, Sullivan, L, Takle, L, Vance, J, Wagner, M, Wells, D, Westbrook, C, and Yaremko, L

Published
2016

46. RAD51B in familial breast cancer

Author

Pelttari, LM, Khan, S, Vuorela, M, Kiiski, JI, Vilske, S, Nevanlinna, V, Ranta, S, Schleutker, J, Winqvist, R, Kallioniemi, A, Dörk, T, Bogdanova, NV, Figueroa, J, Pharoah, PDP, Schmidt, MK, Dunning, AM, García-Closas, M, Bolla, MK, Dennis, J, Michailidou, K, Wang, Q, Hopper, JL, Southey, MC, Rosenberg, EH, Fasching, PA, Beckmann, MW, Peto, J, Dos-Santos-silva, I, Sawyer, EJ, Tomlinson, I, Burwinkel, B, Surowy, H, Guénel, P, Truong, T, Bojesen, SE, Nordestgaard, BG, Benitez, J, González-Neira, A, Neuhausen, SL, Anton-Culver, H, Brenner, H, Arndt, V, Meindl, A, Schmutzler, RK, Brauch, H, Brüning, T, Lindblom, A, Margolin, S, Mannermaa, A, Hartikainen, JM, Chenevix-Trench, G, Van Dyck, L, Janssen, H, Chang-Claude, J, Rudolph, A, Radice, P, Peterlongo, P, Hallberg, E, Olson, JE, Giles, GG, Milne, RL, Haiman, CA, Schumacher, F, Simard, J, and Dumont, M

Abstract

Common variation on 14q24.1, close to RAD51B, has been associated with breast cancer: rs999737 and rs2588809 with the risk of female breast cancer and rs1314913 with the risk of male breast cancer. The aim of this study was to investigate the role of RAD51B variants in breast cancer predisposition, particularly in the context of familial breast cancer in Finland. We sequenced the coding region of RAD51B in 168 Finnish breast cancer patients from the Helsinki region for identification of possible recurrent founder mutations. In addition, we studied the known rs999737, rs2588809, and rs1314913 SNPs and RAD51B haplotypes in 44,791 breast cancer cases and 43,583 controls from 40 studies participating in the Breast Cancer Association Consortium (BCAC) that were genotyped on a custom chip (iCOGS). We identified one putatively pathogenic missense mutation c.541C>T among the Finnish cancer patients and subsequently genotyped the mutation in additional breast cancer cases (n = 5259) and population controls (n = 3586) from Finland and Belarus. No significant association with breast cancer risk was seen in the meta-analysis of the Finnish datasets or in the large BCAC dataset. The association with previously identified risk variants rs999737, rs2588809, and rs1314913 was replicated among all breast cancer cases and also among familial cases in the BCAC dataset. The most significant association was observed for the haplotype carrying the risk-alleles of all the three SNPs both among all cases (odds ratio (OR): 1.15, 95% confidence interval (CI): 1.11-1.19, P = 8.88 × 10-16) and among familial cases (OR: 1.24, 95% CI: 1.16-1.32, P = 6.19 × 10-11), compared to the haplotype with the respective protective alleles. Our results suggest that loss-of-function mutations in RAD51B are rare, but common variation at the RAD51B region is significantly associated with familial breast cancer risk.

Published
2016
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47. Posters

Author

Ranta, S., Svartling, N., Vuola, J., Takkunen, O., Alyoshkin, V. A., Novikova, L. I., Hvatov, V. B., Ivanina, T. A., Evteeva, E. A., Gomes, E. R., Machado, H. S., Paiva, A., Araújo, R., Carneiro, A. M., Stokić, A., Peković, V., Belopavlović, J., Stokić, E., Tatić, M., Radunović, T., Draŝković, B., Sanchez, A. Muñoz, Jimenez, P. I., Hernández, F., Cabezas, F. Murillo, Rosero, R., Caravallo, A., Phomkin, O. G., Slepushkin, V. D., and Pronichev, E. U.

Published
1996
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49. Nuoren itseilmaisu fursonan avulla:kertomus yksilön, yhteisön ja kulttuurin vaikutuksista virtuaaliseen identiteettiin

Author

Ranta, S. (Saara)

Subjects
Education
Abstract

Eläinhahmoinen ja kuvallinen itseilmaisu on kehittynyt ja osittain siirtynyt myös virtuaalimaailmoihin ja yhteisöihin, joissa tutkielmassani tutkitut virtuaaliset eläinhahmot—fursonat esiintyvät ja kommunikoivat. Eläinhahmoista ja kuvallista itseilmaisua on tutkittu paljon, mutta virtuaalista eläinhahmoista itseilmaisua vähän. Työ sijoittuu narratiivisen tutkimuksen, visuaalisen kulttuurin tutkimuksen aloihin ja siinä on myös kehollisen ja psykoterapeuttisen tutkimuksen piirteitä. Tutkielmassani kysytään: Millä tavalla yksilön, yhteisön ja kulttuurin vaikutukset näkyvät fursonissa? Eläinhahmoisia, kuvallisia virtuaali-identiteettejä tarkastellaan sosiaalisesti kerrostuneina kertomuksina eli narratiiveina, joiden muotoutumiseen vaikuttaa eletty ympäristö ja kulttuuri sekä virtuaaliyhteisön tarjoama ympäristö, jossa fursona esiintyy. Tutkielmassa myös sivutaan eläinhahmoisen virtuaali-identiteetin ja reaalisen kehon välisiä eroja sekä piilotajunnallisuutta kuvallisessa itseilmaisussa. Tutkielmani kuvallinen aineisto on kerätty DeviantART-nimisestä virtuaaliyhteisöstä vuosien 2014–2015 aikana ja se sisältää neljän eri fursonan kuvan käyttäjän itseilmaisullisia kuvia ja kertomuksia fursonistaan. Tutkielmaan osallistuneet ovat itse omaehtoisesti valinneet työssä esiintyvän kuvallisen aineiston ja kertoneet vapaasti hahmoistaan DeviantART-yhteisöön lähetetyn tutkimuspyynnön seurauksena vuonna 2014. Tutkielmani pääroolissa esiintyy fursonan kuvan tekijä ja DeviantART-käyttäjä Velyra. Aineistoa on lähestytty kerronnallisen haastattelun pohjalta, vastaanotettua aineistoa teemoitellen. Tutkielmaani osallistuneita kuvia on analysoitu kertomuksina, joita kuvien vastaanottaja tulkitsee. Fursonan kuvien teko on itseilmaisun muoto, jossa kuvan tekijän virtuaaliyhteisöön kuvittama vuorovaikutuksellinen hahmo muuttaa muotoaan ja kehittyy jatkuvasti. Virtuaalisen eläinhahmon kautta tapahtuvassa itseilmaisussa näkyy kuvan tekijän eletyt kokemukset sekä sosiaalinen ja kulttuurillinen ympäristö. Kuvan tekijällä on mahdollisuus kuvan kautta käydä läpi reaalielämässä tapahtuneita tilanteita tai tunteitaan, joita ei muutoin pystyisi tuomaan esiin. Tämän lisäksi virtuaalinen eläinhahmo tarjoaa tekijälleen myös uudenlaisen kommunikoinnin ulottuvuuden, jossa sukupuolisuus ja eri maiden väliset rajat eivät rajoita mahdollisuutta vuorovaikutukseen ja yhteisöllisyyteen ja jonka yhteisenä ilmaisun muotona on eläinhahmoinen alter ego, fursona. Tutkielma laajentaa tietämystä nykynuorten kuvallisen itseilmaisun kulttuurista. Eläinhahmoisten virtuaali-identiteettien kuvien ja kertomusten tarkastelu auttaa ymmärtämään niitä monimuotoisia syvyyksiä, joita nuorten kuvalliseen itseilmaisuun kätkeytyy. Tutkielma avaa uusia näkökulmia kuvailmaisun mahdollisuuksista kasvatus- ja taidekasvatuksen alalla ja virtuaalista kuvailmaisua keinona itseilmaisun elävöittämiseen.

Published
2015

50. RAD51B in Familial Breast Cancer

Author

Brusgaard, K, Pelttari, LM, Khan, S, Vuorela, M, Kiiski, JI, Vilske, S, Nevanlinna, V, Ranta, S, Schleutker, J, Winqvist, R, Kallioniemi, A, Doerk, T, Bogdanova, NV, Figueroa, J, Pharoah, PDP, Schmidt, MK, Dunning, AM, Garcia-Closas, M, Bolla, MK, Dennis, J, Michailidou, K, Wang, Q, Hopper, JL, Southey, MC, Rosenberg, EH, Fasching, PA, Beckmann, MW, Peto, J, dos-Santos-Silva, I, Sawyer, EJ, Tomlinson, I, Burwinkel, B, Surowy, H, Guenel, P, Truong, T, Bojesen, SE, Nordestgaard, BG, Benitez, J, Gonzalez-Neira, A, Neuhausen, SL, Anton-Culver, H, Brenner, H, Arndt, V, Meindl, A, Schmutzler, RK, Brauch, H, Bruening, T, Lindblom, A, Margolin, S, Mannermaa, A, Hartikainen, JM, Chenevix-Trench, G, Van Dyck, L, Janssen, H, Chang-Claude, J, Rudolph, A, Radice, P, Peterlongo, P, Hallberg, E, Olson, JE, Giles, GG, Milne, RL, Haiman, CA, Schumacher, F, Simard, J, Dumont, M, Kristensen, V, Borresen-Dale, A-L, Zheng, W, Beeghly-Fadiel, A, Grip, M, Andrulis, IL, Glendon, G, Devilee, P, Seynaeve, C, Hooning, MJ, Collee, M, Cox, A, Cross, SS, Shah, M, Luben, RN, Hamann, U, Torres, D, Jakubowska, A, Lubinski, J, Couch, FJ, Yannoukakos, D, Orr, N, Swerdlow, A, Darabi, H, Li, J, Czene, K, Hall, P, Easton, DF, Mattson, J, Blomqvist, C, Aittomaki, K, Nevanlinna, H, Brusgaard, K, Pelttari, LM, Khan, S, Vuorela, M, Kiiski, JI, Vilske, S, Nevanlinna, V, Ranta, S, Schleutker, J, Winqvist, R, Kallioniemi, A, Doerk, T, Bogdanova, NV, Figueroa, J, Pharoah, PDP, Schmidt, MK, Dunning, AM, Garcia-Closas, M, Bolla, MK, Dennis, J, Michailidou, K, Wang, Q, Hopper, JL, Southey, MC, Rosenberg, EH, Fasching, PA, Beckmann, MW, Peto, J, dos-Santos-Silva, I, Sawyer, EJ, Tomlinson, I, Burwinkel, B, Surowy, H, Guenel, P, Truong, T, Bojesen, SE, Nordestgaard, BG, Benitez, J, Gonzalez-Neira, A, Neuhausen, SL, Anton-Culver, H, Brenner, H, Arndt, V, Meindl, A, Schmutzler, RK, Brauch, H, Bruening, T, Lindblom, A, Margolin, S, Mannermaa, A, Hartikainen, JM, Chenevix-Trench, G, Van Dyck, L, Janssen, H, Chang-Claude, J, Rudolph, A, Radice, P, Peterlongo, P, Hallberg, E, Olson, JE, Giles, GG, Milne, RL, Haiman, CA, Schumacher, F, Simard, J, Dumont, M, Kristensen, V, Borresen-Dale, A-L, Zheng, W, Beeghly-Fadiel, A, Grip, M, Andrulis, IL, Glendon, G, Devilee, P, Seynaeve, C, Hooning, MJ, Collee, M, Cox, A, Cross, SS, Shah, M, Luben, RN, Hamann, U, Torres, D, Jakubowska, A, Lubinski, J, Couch, FJ, Yannoukakos, D, Orr, N, Swerdlow, A, Darabi, H, Li, J, Czene, K, Hall, P, Easton, DF, Mattson, J, Blomqvist, C, Aittomaki, K, and Nevanlinna, H

Abstract

Common variation on 14q24.1, close to RAD51B, has been associated with breast cancer: rs999737 and rs2588809 with the risk of female breast cancer and rs1314913 with the risk of male breast cancer. The aim of this study was to investigate the role of RAD51B variants in breast cancer predisposition, particularly in the context of familial breast cancer in Finland. We sequenced the coding region of RAD51B in 168 Finnish breast cancer patients from the Helsinki region for identification of possible recurrent founder mutations. In addition, we studied the known rs999737, rs2588809, and rs1314913 SNPs and RAD51B haplotypes in 44,791 breast cancer cases and 43,583 controls from 40 studies participating in the Breast Cancer Association Consortium (BCAC) that were genotyped on a custom chip (iCOGS). We identified one putatively pathogenic missense mutation c.541C>T among the Finnish cancer patients and subsequently genotyped the mutation in additional breast cancer cases (n = 5259) and population controls (n = 3586) from Finland and Belarus. No significant association with breast cancer risk was seen in the meta-analysis of the Finnish datasets or in the large BCAC dataset. The association with previously identified risk variants rs999737, rs2588809, and rs1314913 was replicated among all breast cancer cases and also among familial cases in the BCAC dataset. The most significant association was observed for the haplotype carrying the risk-alleles of all the three SNPs both among all cases (odds ratio (OR): 1.15, 95% confidence interval (CI): 1.11-1.19, P = 8.88 x 10-16) and among familial cases (OR: 1.24, 95% CI: 1.16-1.32, P = 6.19 x 10-11), compared to the haplotype with the respective protective alleles. Our results suggest that loss-of-function mutations in RAD51B are rare, but common variation at the RAD51B region is significantly associated with familial breast cancer risk.

Published
2016

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