| 1. |
- Niemi, MEK, et al.
(författare)
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- 2021
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swepub:Mat__t
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| 2. |
- Lissek, T, et al.
(författare)
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Building Bridges through Science
- 2017
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Ingår i: Neuron. - : Elsevier BV. - 1097-4199 .- 0896-6273. ; 96:4, s. 730-735
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Tidskriftsartikel (refereegranskat)
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| 3. |
- Paulussen, Aimee D C, et al.
(författare)
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Rare novel variants in the ZIC3 gene cause X-linked heterotaxy
- 2016
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Ingår i: European Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1018-4813 .- 1476-5438. ; 24:12, s. 1783-1791
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Tidskriftsartikel (refereegranskat)abstract
- Variants in the ZIC3 gene are rare, but have demonstrated their profound clinical significance in X-linked heterotaxy, affecting in particular male patients with abnormal arrangement of thoracic and visceral organs. Several reports have shown relevance of ZIC3 gene variants in both familial and sporadic cases and with a predominance of mutations detected in zinc-finger domains. No studies so far have assessed the functional consequences of ZIC3 variants in an in vivo model organism. A study population of 348 patients collected over more than 10 years with a large variety of congenital heart disease including heterotaxy was screened for variants in the ZIC3 gene. Functional effects of three variants were assessed both in vitro and in vivo in the zebrafish. We identified six novel pathogenic variants (1,7%), all in either male patients with heterotaxy (n=5) or a female patient with multiple male deaths due to heterotaxy in the family (n=1). All variants were located within the zinc-finger domains or leading to a truncation before these domains. Truncating variants showed abnormal trafficking of mutated ZIC3 proteins, whereas the missense variant showed normal trafficking. Overexpression of wild-type and mutated ZIC protein in zebrafish showed full non-functionality of the two frame-shift variants and partial activity of the missense variant compared with wild-type, further underscoring the pathogenic character of these variants. Concluding, we greatly expanded the number of causative variants in ZIC3 and delineated the functional effects of three variants using in vitro and in vivo model systems.
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| 4. |
- Dimassi, H, et al.
(författare)
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Views of community pharmacists in Lebanon on the unified prescription: a mixed method study
- 2020
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Ingår i: Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit. - : World Health Organization Regional Office for the Eastern Mediterranean (WHO/EMRO). - 1687-1634. ; 26:12, s. 1539-1547
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Tidskriftsartikel (refereegranskat)abstract
- Background: The unified prescription was introduced in Lebanon in 2011; an aim was to save on medication expenditure. Aims: The aim of this study was to evaluate the views of community pharmacists on the effect and usefulness of the unified prescription. Methods: A cross-sectional telephone survey of community pharmacists from all governorates of Lebanon was conducted. A questionnaire was used to collect demographic data, pharmacists’ views on the effect of the unified prescription on their work, the percentage of prescriptions in which the prescriber had indicated that the medicine should not be substituted with a generic equivalent and the percentage needing clarification from the prescriber. Face-to-face interviews were held with 12 pharmacists to explore their views further. Results: Of 251 pharmacists interviewed, 56.8% did not think the unified prescription was useful, 34.8% thought it complicated their work and 24.0% that it reduced their autonomy. The in-depth interviews showed that autonomy was perceived to be restricted because of the difficulty in convincing patients to accept a substitute generic medicine, which the unified prescription allowed. The unified prescription complicated pharmacists’ work because of increased paperwork and the need for more storage. Pharmacists felt that the large number of prescriptions in which the prescriber had indicated that the medicine should not be substituted undermined the purpose of the unified prescription. Conclusion: The implementation of the unified prescription was not considered a success by community pharmacists in Lebanon. Efforts are needed to improve communication with prescribers and educate the public about pharmacists’ role and generic medicines.
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