| 1. |
- Chase, A., et al.
(författare)
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Profound parental bias associated with chromosome 14 acquired uniparental disomy indicates targeting of an imprinted locus
- 2015
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Ingår i: Leukemia. - : Springer Science and Business Media LLC. - 0887-6924 .- 1476-5551. ; 29:10, s. 2069-2074
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Tidskriftsartikel (refereegranskat)abstract
- Acquired uniparental disomy (aUPD) is a common finding in myeloid malignancies and typically acts to convert a somatically acquired heterozygous mutation to homozygosity. We sought to identify the target of chromosome 14 aUPD (aUPD14), a recurrent abnormality in myeloid neoplasms and population cohorts of elderly individuals. We identified 29 cases with aUPD14q that defined a minimal affected region (MAR) of 11.2 Mb running from 14q32.12 to the telomere. Exome sequencing (n = 7) did not identify recurrently mutated genes, but methylation-specific PCR at the imprinted MEG3-DLK1 locus located within the MAR demonstrated loss of maternal chromosome 14 and gain of paternal chromosome 14 (P < 0.0001), with the degree of methylation imbalance correlating with the level of aUPD (r = 0.76; P = 0.0001). The absence of driver gene mutations in the exomes of three individuals with aUPD14q but no known haematological disorder suggests that aUPD14q may be sufficient to drive clonal haemopoiesis. Analysis of cases with both aUPD14q and JAK2 V617F (n = 11) indicated that aUPD14q may be an early event in some cases but a late event in others. We conclude that aUPD14q is a recurrent abnormality that targets an imprinted locus and may promote clonal haemopoiesis either as an initiating event or as a secondary change.
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| 2. |
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| 3. |
- De Stefano, V., et al.
(författare)
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Splanchnic vein thrombosis in myeloproliferative neoplasms : Risk factors for recurrences in a cohort of 181 patients
- 2016
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Ingår i: Blood Cancer Journal. - : Springer Science and Business Media LLC. - 2044-5385. ; 6:11
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Tidskriftsartikel (refereegranskat)abstract
- We retrospectively studied 181 patients with polycythaemia vera (n=67), essential thrombocythaemia (n=67) or primary myelofibrosis (n=47), who presented a first episode of splanchnic vein thrombosis (SVT). Budd-Chiari syndrome (BCS) and portal vein thrombosis were diagnosed in 31 (17.1%) and 109 (60.3%) patients, respectively; isolated thrombosis of the mesenteric or splenic veins was detected in 18 and 23 cases, respectively. After this index event, the patients were followed for 735 patient years (pt-years) and experienced 31 recurrences corresponding to an incidence rate of 4.2 per 100 pt-years. Factors associated with a significantly higher risk of recurrence were BCS (hazard ratio (HR): 3.03), history of previous thrombosis (HR: 3.62), splenomegaly (HR: 2.66) and leukocytosis (HR: 2.8). Vitamin K-antagonists (VKA) were prescribed in 85% of patients and the recurrence rate was 3.9 per 100 pt-years, whereas in the small fraction (15%) not receiving VKA more recurrences (7.2 per 100 pt-years) were reported. Intracranial and extracranial major bleeding was recorded mainly in patients on VKA and the corresponding rate was 2.0 per 100 pt-years. In conclusion, despite anticoagulation treatment, the recurrence rate after SVT in myeloproliferative neoplasms is high and suggests the exploration of new avenues of secondary prophylaxis with new antithrombotic drugs and JAK-2 inhibitors.
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| 4. |
- Laschi, C, et al.
(författare)
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A bio-inspired predictive sensory-motor coordination scheme for robot reaching and preshaping
- 2008
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Ingår i: Autonomous Robots. - Boston : Kluwer Academic Publishers. - 0929-5593 .- 1573-7527. ; 25:1-2, s. 85-101
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Tidskriftsartikel (refereegranskat)abstract
- This paper presents a sensory-motor coordination scheme for a robot hand-arm-head system that provides the robot with the capability to reach an object while pre-shaping the fingers to the required grasp configuration and while predicting the tactile image that will be perceived after grasping. A model for sensory-motor coordination derived from studies in humans inspired the development of this scheme. A peculiar feature of this model is the prediction of the tactile image.The implementation of the proposed scheme is based on a neuro-fuzzy module that, after a learning phase, starting from visual data, calculates the position and orientation of the hand for reaching, selects the best-suited hand configuration, and predicts the tactile feedback. The implementation of the scheme on a humanoid robot allowed experimental validation of its effectiveness in robotics and provided perspectives on applications of sensory predictions in robot motor control.
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