| 1. |
- Ambrozic, A, et al.
(author)
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Corrigendum
- 2017
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In: Journal of thrombosis and haemostasis : JTH. - : Elsevier BV. - 1538-7836. ; 15:6, s. 1236-1236
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Journal article (peer-reviewed)
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| 2. |
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| 3. |
- Peterlongo, Paolo, et al.
(author)
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FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
- 2015
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In: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 24:18, s. 5345-5355
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Journal article (peer-reviewed)abstract
- Numerous genetic factors that influence breast cancer risk are known. However, approximately two-thirds of the overall familial risk remain unexplained. To determine whether some of the missing heritability is due to rare variants conferring high to moderate risk, we tested for an association between the c.5791C>T nonsense mutation (p.Arg1931*; rs144567652) in exon 22 of FANCM gene and breast cancer. An analysis of genotyping data from 8635 familial breast cancer cases and 6625 controls from different countries yielded an association between the c.5791C>T mutation and breast cancer risk [odds ratio (OR) = 3.93 (95% confidence interval (CI) = 1.28-12.11; P = 0.017)]. Moreover, we performed two meta-analyses of studies from countries with carriers in both cases and controls and of all available data. These analyses showed breast cancer associations with OR = 3.67 (95% CI = 1.04-12.87; P = 0.043) and OR = 3.33 (95% CI = 1.09-13.62; P = 0.032), respectively. Based on information theory-based prediction, we established that the mutation caused an out-of-frame deletion of exon 22, due to the creation of a binding site for the pre-mRNA processing protein hnRNP A1. Furthermore, genetic complementation analyses showed that the mutation influenced the DNA repair activity of the FANCM protein. In summary, we provide evidence for the first time showing that the common p.Arg1931* loss-of-function variant in FANCM is a risk factor for familial breast cancer.
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| 4. |
- Ageno, Walter, et al.
(author)
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Managing reversal of direct oral anticoagulants in emergency situations Anticoagulation Education Task Force White Paper
- 2016
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In: Thrombosis and Haemostasis. - : SCHATTAUER GMBH-VERLAG MEDIZIN NATURWISSENSCHAFTEN. - 0340-6245 .- 2567-689X. ; 116:6, s. 1003-1010
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Journal article (peer-reviewed)abstract
- Anticoagulation is the cornerstone of prevention and treatment of venous thromboembolism (VTE) and stroke prevention in patients with atrial fibrillation (AF). However, the mechanisms by which anticoagulants confer therapeutic benefit also increase the risk of bleeding. As such, reversal strategies are critical. Until recently, the direct oral anticoagulants (DOACs) dabigatran, rivaroxaban, apixaban, and edoxaban lacked a specific reversal agent. This report is based on findings from the Anticoagulation Education Task Force, which brought together patient groups and professionals representing different medical specialties with an interest in patient safety and expertise in AF, VTE, stroke, anticoagulation, and reversal agents, to discuss the current status of anticoagulation reversal and fundamental changes in management of bleeding associated with DOACs occasioned by the approval of idarucizumab, a specific reversal agent for dabigatran, as well as recent clinical data on specific reversal agents for factor Xa inhibitors. Recommendations are given for when there is a definite need for a reversal agent (e.g. in cases of life-threatening bleeding, bleeding into a closed space or organ, persistent bleeding despite local haemostatic measures, and need for urgent interventions and/or interventions that carry a high risk for bleeding), when reversal agents may be helpful, and when a reversal agent is generally not needed. Key stakeholders who require 24-7/around-the-clock access to these agents vary among hospitals; however, from a practical perspective the emergency department is recommended as an appropriate location for these agents. Clearly, the advent of new agents requires standardised protocols for treating bleeding on an institutional level.
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| 5. |
- Li, Z., et al.
(author)
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Mixed H/He bursts in SAX J1748.9-2021 during the spectral change of its 2015 outburst
- 2018
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In: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 620
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Journal article (peer-reviewed)abstract
- SAX J1748.9-2021 is a transiently accreting X-ray millisecond pulsar. It is also known as an X-ray burster source discovered by Beppo-SAX. We analyzed the persistent emission and type-I X-ray burst properties during its 2015 outburst. The source changed from hard to soft state within half day. We modeled the broadband spectra of the persistent emission in the (1-250) keV energy band for both spectral states using the quasi-simultaneous INTEGRAL and Swift data. The broadband spectra are well fitted by an absorbed thermal Componization model, COMPPS, in a slab geometry. The best-fits for the two states indicate significantly different plasma temperature of 18 and 5 keV and the Thomson optical depths of three and four, respectively. In total, 56 type-I X-ray bursts were observed during the 2015 outburst, of which 26 detected by INTEGRAL in the hard state, 25 by XMM-Newton in the soft state, and five by Swift in both states. As the object transited from the hard to the soft state, the recurrence time for X-ray bursts decreased from approximate to 2 to approximate to 1 h. The relation between the recurrence time, Delta t(rec )and the local mass accretion rate per unit area onto the compact object, in, is fitted by a power-law model, and yielded as best fit at Delta t(rec )similar to <(m) over dot >(-1)(.0)(2 +/-)(0.)(03) using all X-ray bursts. In both cases, the observed recurrence times are consistent with the mixed hydrogen and helium bursts. We also discuss the effects of type-I X-ray bursts prior to the hard to soft transition.
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