| 1. |
- Economou, Marina, et al.
(author)
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Perinatal aspects of haemophilia
- 2014
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In: European Journal of Haematology. - : Wiley. - 1600-0609 .- 0902-4441. ; 93, s. 21-25
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Research review (peer-reviewed)abstract
- Haemophilia is an X-linked recessive genetic disease of haemostasis. Women carriers may present with a bleeding tendency similar to milder forms of the disease. Haemophilic newborns present risk factors and patterns of bleeding that are challenging. Identification of carriers and genetic counselling before conception is considered optimal to help decide on available conception options and during pregnancy to help minimise bleeding risks for both carrier mother and affected baby. Preimplantation genetic diagnosis is attractive to many couples at risk of having a child with haemophilia and relevant technology is becoming more available although it has both practical and ethical limitations. Pregnancy in carriers should be managed by a multidisciplinary team in a comprehensive treatment centre. The optimal mode of delivery for carriers expecting a baby known to have or being at risk of haemophilia is an issue of great debate. The general consensus among authors is avoidance of instrumental delivery, foetal scalp electrodes and blood sampling in pregnancies at risk of carrying an affected foetus, as well as early recourse to Caesarean section as guided by obstetric indications. Intracranial haemorrhage, although infrequent, is one the most devastating types of bleeding in haemophilic newborns and can occur regardless of the mode of delivery or the severity of haemophilia. Early screening is proposed for all infants with severe or moderate haemophilia who have had traumatic delivery and/or have evidence of extracranial haemorrhage. Women with postpartum haemorrhage should have a bleeding work-up.
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| 2. |
- Falloon, Ian R. H., et al.
(author)
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The clinical strategies implementation scale to measure implementation of treatment in mental health services
- 2005
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In: PSYCHIATRIC SERVICES. - : American Psychiatric Association Publishing. - 1075-2730 .- 1557-9700. ; 56:12, s. 1584-1590
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Journal article (peer-reviewed)abstract
- OBJECTIVE: The authors describe the development of the Clinical Strategies Implementation Scale (CSI), an instrument designed to help providers measure the extent to which evidence-based strategies have been implemented in the treatment of persons with schizophrenia spectrum disorders. METHODS: Nine ordinal scales were devised to measure key aspects of treatment strategies that have been associated with clinical and social recovery from schizophrenia: goal- and problem-oriented assessment, medication strategies, assertive case management, mental health education, caregiver-based problem solving, living skills training, psychological strategies for residual problems, crisis prevention and intervention, and booster sessions. A study of interrater reliability was conducted with 15 trained raters from participating centers in Athens, Auckland, Bonn, Budapest, Gothenburg, and Tokyo who assessed 54 cases. Each treatment strategy was weighted according to its effect size in clinical trials. Correlation analyses were conducted to explore associations between the total CSI score and ratings of clinical, social, and caregiver outcomes each year over four years of continued treatment of 51 patients. RESULTS: Interrater reliability ranged from .93 to .99. Four annual total CSI ratings were significantly correlated with impairment, disability, functioning, work activity, and an index of recovery. Most correlations were stronger in years 3 and 4 than in years 1 and 2. CONCLUSIONS: Reliable and valid assessment of the implementation of evidence-based strategies in clinical practice is feasible. The quality of integrated program implementation may be associated with improved clinical and social recovery from schizophrenic disorders.
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| 3. |
- Lazaridis, Iosif, et al.
(author)
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Ancient human genomes suggest three ancestral populations for present-day Europeans
- 2014
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In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 513:7518, s. 409-
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Journal article (peer-reviewed)abstract
- We sequenced the genomes of a similar to 7,000-year-old farmer from Germany and eight similar to 8,000-year-old hunter-gatherers from Luxembourg and Sweden. We analysed these and other ancient genomes(1-4) with 2,345 contemporary humans to show that most present-day Europeans derive from at least three highly differentiated populations: west European hunter-gatherers, who contributed ancestry to all Europeans but not to Near Easterners; ancient north Eurasians related to Upper Palaeolithic Siberians(3), who contributed to both Europeans and Near Easterners; and early European farmers, who were mainly of Near Eastern origin but also harboured west European hunter-gatherer related ancestry. We model these populations' deep relationships and show that early European farmers had similar to 44% ancestry from a 'basal Eurasian' population that split before the diversification of other non-African lineages.
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| 4. |
- Nagy, Roland, et al.
(author)
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Quantum Properties of Dichroic Silicon Vacancies in Silicon Carbide
- 2018
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In: Physical Review Applied. - 2331-7019. ; 9:3
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Journal article (peer-reviewed)abstract
- Although various defect centers have displayed promise as either quantum sensors, single photon emitters, or light-matter interfaces, the search for an ideal defect with multifunctional ability remains open. In this spirit, we study the dichroic silicon vacancies in silicon carbide that feature two well-distinguishable zero-phonon lines and analyze the quantum properties in their optical emission and spin control. We demonstrate that this center combines 40% optical emission into the zero-phonon lines showing the contrasting difference in optical properties with varying temperature and polarization, and a 100% increase in the fluorescence intensity upon the spin resonance, and long spin coherence time of their spin-3/2 ground states up to 0.6 ms. These results single out this defect center as a promising system for spin-based quantum technologies.
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