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- Fritzell, Kaisa
(författare)
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Familial adenomatous polyposis : a patient perspective on life after surgery
- 2011
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Familial adenomatous polyposis (FAP) is a rare hereditary condition with a high risk of gastrointestinal cancer. Individuals with FAP are committed to endoscopic screening surveillance throughout life in addition to having to undergo removal of the colon. With the intention to find strategies to develop care and support, the overall aim was to gain a deeper understanding of the life of surgically treated individuals with FAP. The first study used focus group interviews to collect data. The sample consisted of 14 surgically treated individuals, aged 18-75. Studies II-IV employed a cross-sectional design and were based on self-reported standardized questionnaires to measure abdominal symptoms, health-related quality of life, illness perceptions and quality of care. Assessments were performed using the Abdominal Symptom Questionnaire (ASQ), the Medical Outcomes Study Short Form 36 Health Survey (SF-36), the Revised Illness Perception Questionnaire (IPQ-R) and the Quality of Care from the Patients Perspective (QPP). The sample consisted of 209 surgically treated individuals, aged 18-75 (response rate 76%). The focus group interviews revealed that surgically treated individuals’ have several concerns, including issues about hereditary, the life-long nature of their illness and abdominal symptoms. Individuals use different strategies to minimize the effects of their illness on everyday life. The results from the self-reported questionnaires revealed that 91% of the individuals perceived at least one abdominal symptom during the past three months and reported a mean of 7 (SD 4.61; range 1-18) symptoms. A high number of abdominal symptoms predicted poorer health status. Furthermore, individuals perceived FAP as chronic and to a low extent possible to control. Negative consequences of the illness predicted a worse HRQL as did number of abdominal symptoms. Individuals receiving specialized care and those with a low number of abdominal symptoms were more likely to perceive the quality of care they received as better. In conclusion, to improve HRQL abdominal symptoms and negative consequences on life should be monitored and self-care supported when caring for surgically treated individuals with FAP. Care should be provided by a team of health-care professionals specialized in FAP and is recommended to be coordinated by a nurse. Such care should be holistic and focus on supporting the self-care of the individual.
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| 2. |
- Fritzell, Kaisa, et al.
(författare)
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Patients' views of surgery and surveillance for familial adenomatous polyposis.
- 2010
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Ingår i: Cancer Nursing. - 0162-220X .- 1538-9804. ; 33:2, s. E17-23
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Familial adenomatous polyposis (FAP) is an inherited condition that requires prophylactic surgery (colectomy) followed by a lifetime program of endoscopic surveillance to prevent colorectal cancer. Patients are normally free of symptoms before surgery but a majority report problems related to bowel function postoperatively.OBJECTIVE: The aim of the study was to gain a deeper understanding of how FAP affects life by exploring patients' view of what it is like living with the illness and being committed to a lifelong screening program.METHODS: Three focus group interviews were conducted, and data were analyzed using descriptive qualitative content analysis.RESULTS: The analysis resulted in two categories related to the participants' view of living with FAP. The first category was associated with concerns related to the hereditary and lifelong nature of the disease as well as to the prophylactic surgery and the second category was related to patients' ways of managing life.CONCLUSION: Most participants expressed unmet needs, such as lack of healthcare providers with good knowledge about FAP, practical and psychosocial support, FAP educational programs, and organized meetings with other persons with the condition.IMPLICATIONS FOR PRACTICE: One important aspect of living with FAP shared by the participants concerned ways of managing life concerns, something that healthcare providers caring for patients with FAP should identify and support. Furthermore, continuity of care by health care providers with good knowledge about FAP can be an important way of reducing patient concerns.
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| 3. |
- Rohlin, Anna, et al.
(författare)
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Inactivation of promoter 1B of APC causes partial gene silencing: evidence for a significant role of the promoter in regulation and causative of familial adenomatous polyposis.
- 2011
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Ingår i: Oncogene. - : Springer Science and Business Media LLC. - 1476-5594 .- 0950-9232. ; 30:50, s. 4977-89
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Tidskriftsartikel (refereegranskat)abstract
- Familial adenomatous polyposis (FAP) is caused by germline mutations in the adenomatous polyposis coli (APC) gene. Two promoters, 1A and 1B, have been recognized in APC, and 1B is thought to have a minor role in the regulation of the gene. We have identified a novel deletion encompassing half of this promoter in the largest family (Family 1) of the Swedish Polyposis Registry. The mutation leads to an imbalance in allele-specific expression of APC, and transcription from promoter 1B was highly impaired in both normal colorectal mucosa and blood from mutation carriers. To establish the significance of promoter 1B in normal colorectal mucosa (from controls), expression levels of specific transcripts from each of the promoters, 1A and 1B, were examined, and the expression from 1B was significantly higher compared with 1A. Significant amounts of transcripts generated from promoter 1B were also determined in a panel of 20 various normal tissues examined. In FAP-related tumors, the APC germline mutation is proposed to dictate the second hit. Mutations leaving two or three out of seven 20-amino-acid repeats in the central domain of APC intact seem to be required for tumorigenesis. We examined adenomas from mutation carriers in Family 1 for second hits in the entire gene without any findings, however, loss of the residual expression of the deleterious allele was observed. Three major conclusions of significant importance in relation to the function of APC can be drawn from this study; (i) germline inactivation of promoter 1B is disease causing in FAP; (ii) expression of transcripts from promoter 1B is generated at considerable higher levels compared with 1A, demonstrating a hitherto unknown importance of 1B; (iii) adenoma formation in FAP, caused by impaired function of promoter 1B, does not require homozygous inactivation of APC allowing for alternative genetic models as basis for adenoma formation.
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