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| 2. |
- Fellman, Vineta, et al.
(författare)
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One-year survival of extremely preterm infants after active perinatal care in Sweden.
- 2009
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Ingår i: JAMA : the journal of the American Medical Association. - : American Medical Association (AMA). - 1538-3598 .- 0098-7484. ; 301:21, s. 2225-33
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Tidskriftsartikel (refereegranskat)abstract
- Up-to-date information on infant survival after extremely preterm birth is needed for assessing perinatal care services, clinical guidelines, and parental counseling.
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| 3. |
- Friberg, Febe, 1950, et al.
(författare)
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Creating Room for Learning at Work: Nurses´ Experiences of Participating in an Educational Program on the Function of Patient Teaching
- 2008
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Ingår i: International Journal for Human Caring. - : International Association for Human Caring. - 1070-4795 .- 1091-5710. ; 12:3, s. 38-46
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Tidskriftsartikel (refereegranskat)abstract
- The aim of this study was to describe an educational program concerning nurses´ patient-teaching work and how it was experienced by the nurses. The program consisted of five sessions, each with a main theme, which explored four main teaching/learning strategies. Interviews were conducted with the nurses and analyzed qualitatively. The analysis revealed three themes: intercollegial learning, increased awareness of pedagogical complexity, and increased preparedness. The study showed that participation in an educational program at work is one strategy by which nurses can become more closely linked with their patient-teaching function, which has direct consequences for practice.
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| 4. |
- Knowles, Charles H., et al.
(författare)
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Gastrointestinal neuromuscular pathology: guidelines for histological techniques and reporting on behalf of the Gastro 2009 International Working Group
- 2009
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Ingår i: Acta Neuropathologica. - : Springer Science and Business Media LLC. - 1432-0533 .- 0001-6322. ; 118:2, s. 271-301
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Tidskriftsartikel (refereegranskat)abstract
- The term gastrointestinal neuromuscular disease describes a clinically heterogeneous group of disorders of children and adults in which symptoms are presumed or proven to arise as a result of neuromuscular, including interstitial cell of Cajal, dysfunction. Such disorders commonly have impaired motor activity, i.e. slowed or obstructed transit with radiological evidence of transient or persistent visceral dilatation. Whilst sensorimotor abnormalities have been demonstrated by a variety of methods in these conditions, standards for histopathological reporting remain relatively neglected. Significant differences in methodologies and expertise continue to confound the reliable delineation of normality and specificity of particular pathological changes for disease. Such issues require urgent clarification to standardize acquisition and handling of tissue specimens, interpretation of findings and make informed decisions on risk-benefit of full-thickness tissue biopsy of bowel or other diagnostic procedures. Such information will also allow increased certainty of diagnosis, facilitating factual discussion between patients and caregivers, as well as giving prognostic and therapeutic information. The following report, produced by an international working group, using established consensus methodology, presents proposed guidelines on histological techniques and reporting for adult and paediatric gastrointestinal neuromuscular pathology. The report addresses the main areas of histopathological practice as confronted by the pathologist, including suction rectal biopsy and full-thickness tissue obtained with diagnostic or therapeutic intent. For each, indications, safe acquisition of tissue, histological techniques, reporting and referral recommendations are presented.
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| 5. |
- Kollberg, Gittan, 1963, et al.
(författare)
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Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations.
- 2005
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Ingår i: European journal of human genetics : EJHG. - : Springer Science and Business Media LLC. - 1018-4813 .- 1476-5438. ; 13:4, s. 463-9
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Tidskriftsartikel (refereegranskat)abstract
- Mitochondrial myopathy in progressive external ophthalmoplegia (PEO) has been associated with POLG1 mutations. POLG1 encodes the catalytic alpha subunit of polymerase gamma and is the only polymerase known to be involved in mtDNA replication. It has two functionally different domains, one polymerase domain and one exonuclease domain with proofreading activity. In this study we have investigated whether mtDNA point mutations are involved, directly or indirectly, in the pathogenesis of PEO. Muscle biopsy specimens from patients with POLG1 mutations, affecting either the exonuclease or the polymerase domain, were investigated. Single cytochrome c oxidase (COX)-deficient muscle fibers were dissected and screened for clonally expanded mtDNA point mutations using a sensitive denaturing gradient gel electrophoresis analysis, in which three different regions of mtDNA, including five different tRNA genes, were investigated. To screen for randomly distributed mtDNA point mutations in muscle, two regions of mtDNA including deletion breakpoints were investigated by high-fidelity PCR, followed by cloning and sequencing. Long-range PCR revealed multiple mtDNA deletions in all the patients but not the controls. No point mutations were identified in single COX-deficient muscle fibers. Cloning and sequencing of muscle homogenate identified randomly distributed point mutations at very low frequency in patients and controls (<1:50 000). We conclude that mtDNA point mutations do not appear to be directly or indirectly involved in the pathogenesis of mitochondrial disease in patients with different POLG1 mutations.
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| 7. |
- Kollberg, Gittan, 1963, et al.
(författare)
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Mitochondrial myopathy and rhabdomyolysis associated with a novel nonsense mutation in the gene encoding cytochrome c oxidase subunit I.
- 2005
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Ingår i: Journal of neuropathology and experimental neurology. - 0022-3069. ; 64:2, s. 123-8
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Tidskriftsartikel (refereegranskat)abstract
- Mitochondrial DNA (mtDNA) mutations associated with rhabdomyolysis are rare but have been described in sporadic cases with mutations in the cytochrome b and cytochrome c oxidase (COX) genes and in 3 cases with tRNALeu mutation. We report a novel heteroplasmic G6708A nonsense mutation in the mtDNA COI gene encoding COX subunit I in a 30-year-old woman with muscle weakness, pain, fatigue, and one episode of rhabdomyolysis. Histochemical examination of muscle biopsy specimens revealed reduced COX activity in the majority of the muscle fibers (approximately 90%) and frequent ragged red fibers. Biochemical analysis showed a marked and isolated COX deficiency. Analysis of DNA extracted from single fibers revealed higher levels of the mutation in COX-deficient fibers (> 95%) compared with COX-positive fibers (1%-80%). The mutation was not detected in a skin biopsy, cultured myoblasts, or blood leukocytes. Nor was it identified in blood leukocytes from the asymptomatic mother, indicating a de novo mutation that arose after germ layer differentiation. Western blot analysis and immunohistochemical staining revealed that reduced levels of COX subunit I were accompanied by reduced levels of other mtDNA encoded subunits, as well as nuclear DNA encoded subunit IV, supporting the concept that COX subunit I is essential for the assembly of complex IV in the respiratory chain.
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| 9. |
- Lindberg, Birgitta
(författare)
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When the baby is premature : experiences of parenthood and getting support via videoconferencing
- 2009
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- The overall aim of this doctoral thesis was to describe parents' experiences of having an infant born prematurely and experiences on the use of real-time videoconferencing in providing support to parents of preterm born infants at home. A descriptive qualitative method was chosen to achieve the overall goal of this thesis. Qualitative research interviews were used for data collection and qualitative content analysis was used for data analysis. All studies included in this thesis were conducted in collaboration with a neonatal intensive care unit (NICU) in the northern part of Sweden.This thesis describes parents' reaction to the preterm birth as unexpected; they were not ready or prepared for it. The initial time after the birth felt surreal and it was hard to feel like a mother or a father. Parenting was experienced with anxiety as well as with a lot of stressors. Parents were unacquainted with and had a great need for knowledge about preterm birth. The lack of knowledge was straining, as parents wanted to understand what was happening. Parents were worried about the infant getting ill, injured, and being affected for life, or not even surviving. Being close to their infant was vital. Fathers also wanted to be with their partner as they were protective over both mother and infant. The preterm birth made it possible for fathers to spend time with their infant and they thought that they had a stronger bond with their baby compared with those who had full-term children.Taking their infant home was experienced with mixed feelings, but this made it possible for the whole family to be together. The experience with most staff was regarded as positive as parents felt they were well treated. The opposite was also described - not being involved in the infant's care and in making decisions to the extent that they wanted. To be able to cope and feel confidence about caring for their infants, parents needed support, both at the NICU and after going home. Parents must be given the opportunity to share their experiences of having an infant born prematurely with others, especially the partner, nursing staff, and parents with children born prematurely.Having access to staff at all hours by videoconferencing was supportive and gave parents confidence in their new situation. However, the need to control the use of videoconferencing was expressed. The videoconference meetings were comparable with the meetings parents and certified pediatric nurses (CPNs) had at the NICU. Videoconferencing enabled CPNs to meet the whole family and to assess the overall situation at home; security could be provided to the family. The use of the equipment made them reflect on continuing and developing the use of videoconferencing, but it takes time to implement changes. Videoconferencing can be a way to offer support to families after bringing their preterm infant home. This implies a change in traditional nursing care in order to avail of perceived benefits using technology. The results in this thesis have implications for nursing staff meeting families with a child born prematurely as well as for parents with prematurely born infants. Understanding the specific needs of parents is of outmost importance for nursing staff to enable them to provide support and facilitate parenting. Meeting parents with openness and listening to their experiences can help them both as individuals and as a whole family.
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