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1.
J Med Genet ; 59(2): 122-132, 2022 02.
Article in English | MEDLINE | ID: mdl-33568437

ABSTRACT

BACKGROUND: Acceptance of the role of the fallopian tube in 'ovarian' carcinogenesis and the detrimental sequelae of surgical menopause in premenopausal women following risk-reducing salpingo-oophorectomy (RRSO) has resulted in risk-reducing early-salpingectomy with delayed oophorectomy (RRESDO) being proposed as an attractive alternative risk-reducing strategy in women who decline/delay oophorectomy. We present the results of a qualitative study evaluating the decision-making process among BRCA carriers considering prophylactic surgeries (RRSO/RRESDO) as part of the multicentre PROTECTOR trial (ISRCTN:25173360). METHODS: In-depth semistructured 1:1 interviews conducted using a predeveloped topic-guide (development informed by literature review and expert consultation) until informational saturation reached. Wording and sequencing of questions were left open with probes used to elicit additional information. All interviews were audio-recorded, transcribed verbatim, transcripts analysed using an inductive theoretical framework and data managed using NVIVO-v12. RESULTS: Informational saturation was reached following 24 interviews. Seven interconnected themes integral to surgical decision making were identified: fertility/menopause/cancer risk reduction/surgical choices/surgical complications/sequence of ovarian-and-breast prophylactic surgeries/support/satisfaction. Women for whom maximising ovarian cancer risk reduction was relatively more important than early menopause/quality-of-life preferred RRSO, whereas those more concerned about detrimental impact of menopause chose RRESDO. Women managed in specialist familial cancer clinic settings compared with non-specialist settings felt they received better quality care, improved hormone replacement therapy access and were more satisfied. CONCLUSION: Multiple contextual factors (medical, physical, psychological, social) influence timing of risk-reducing surgeries. RRESDO offers women delaying/declining premenopausal oophorectomy, particularly those concerned about menopausal effects, a degree of ovarian cancer risk reduction while avoiding early menopause. Care of high-risk women should be centralised to centres with specialist familial gynaecological cancer risk management services to provide a better-quality, streamlined, holistic multidisciplinary approach.


Subject(s)
Clinical Decision-Making , Genes, BRCA1 , Genes, BRCA2 , Ovarian Neoplasms/prevention & control , Prophylactic Surgical Procedures , Salpingectomy , Salpingo-oophorectomy , Adult , Cohort Studies , Female , Heterozygote , Humans , Middle Aged , Ovarian Neoplasms/genetics , Ovariectomy , Premenopause , Prophylactic Mastectomy , Risk Reduction Behavior
2.
Dermatol Pract Concept ; 11(2): e2021019, 2021 Mar.
Article in English | MEDLINE | ID: mdl-33747628
4.
Cancers (Basel) ; 12(5)2020 May 15.
Article in English | MEDLINE | ID: mdl-32429029

ABSTRACT

Unselected population-based personalised ovarian cancer (OC) risk assessment combining genetic/epidemiology/hormonal data has not previously been undertaken. We aimed to perform a feasibility study of OC risk stratification of general population women using a personalised OC risk tool followed by risk management. Volunteers were recruited through London primary care networks. INCLUSION CRITERIA: women ≥18 years. EXCLUSION CRITERIA: prior ovarian/tubal/peritoneal cancer, previous genetic testing for OC genes. Participants accessed an online/web-based decision aid along with optional telephone helpline use. Consenting individuals completed risk assessment and underwent genetic testing (BRCA1/BRCA2/RAD51C/RAD51D/BRIP1, OC susceptibility single-nucleotide polymorphisms). A validated OC risk prediction algorithm provided a personalised OC risk estimate using genetic/lifestyle/hormonal OC risk factors. Population genetic testing (PGT)/OC risk stratification uptake/acceptability, satisfaction, decision aid/telephone helpline use, psychological health and quality of life were assessed using validated/customised questionnaires over six months. Linear-mixed models/contrast tests analysed impact on study outcomes. MAIN OUTCOMES: feasibility/acceptability, uptake, decision aid/telephone helpline use, satisfaction/regret, and impact on psychological health/quality of life. In total, 123 volunteers (mean age = 48.5 (SD = 15.4) years) used the decision aid, 105 (85%) consented. None fulfilled NHS genetic testing clinical criteria. OC risk stratification revealed 1/103 at ≥10% (high), 0/103 at ≥5%-<10% (intermediate), and 100/103 at <5% (low) lifetime OC risk. Decision aid satisfaction was 92.2%. The telephone helpline use rate was 13% and the questionnaire response rate at six months was 75%. Contrast tests indicated that overall depression (p = 0.30), anxiety (p = 0.10), quality-of-life (p = 0.99), and distress (p = 0.25) levels did not jointly change, while OC worry (p = 0.021) and general cancer risk perception (p = 0.015) decreased over six months. In total, 85.5-98.7% were satisfied with their decision. Findings suggest population-based personalised OC risk stratification is feasible and acceptable, has high satisfaction, reduces cancer worry/risk perception, and does not negatively impact psychological health/quality of life.

5.
Int J Spine Surg ; 12(1): 1-7, 2018 Jan.
Article in English | MEDLINE | ID: mdl-30280076

ABSTRACT

BACKGROUND: Management of thoracolumbar fractures remains controversial in the literature. The primary aims of this study were to assess different levels of fixation with respect to radiological outcomes in terms of fracture reduction and future loss of correction. METHODS: This is a single center, retrospective study. Fifty-five patients presenting with thoracolumbar fractures between January 2012 and December 2015 were analyzed in the study. The levels of fixation were divided in 3 groups: 1 vertebra above and 1 below the fracture (1/1), 2 above and 2 below (2/2), and 2 above and 1 below (2/1). RESULTS: The most common mechanism was high fall injury, and the most common vertebra L1. Burst fractures were the ones with the highest incidence. The 2/2 fixation achieved the best reduction of the fracture, but with no statistical significance. The correction is maintained better by the 2/2 fixation, but there is no statistical difference compared to the other fixations. Insertion of screws at the fracture level did not improve outcomes. CONCLUSION: The data of this study identified a trend toward better radiological outcomes for fracture reduction and maintenance of the correction in the 2/2 fixations. However, these results are not statistically significant. Future multicenter prospective clinical trials are needed in order to agree on the ideal management and method of fixation for thoracolumbar fractures.

6.
Int J Spine Surg ; 11: 32, 2017.
Article in English | MEDLINE | ID: mdl-29372136

ABSTRACT

INTRODUCTION: Management of thoracolumbar fractures remains controversial in the literature. The primary aims of this study were to assess different levels of fixation with respect to radiological outcomes in terms of fracture reduction and future loss of correction. METHODS: This is a single center, retrospective study. Fifty-five patients presenting with thoracolumbar fractures between January 2012 and December 2015 were analyzed in the study. The levels of fixation were divided in 3 groups, 1 vertebra above and 1 below the fracture (1/1), 2 above and 2 below (2/2), and 2 above and 1 below (2/1). RESULTS: The most common mechanism was high fall injury and the most common vertebra L1. Burst fractures were the ones with the highest incidence. The 2/2 fixation achieved the best reduction of the fracture but with no statistical significance. The correction is maintained better by the 2/2 fixation but there is no statistical difference compared to the other fixations. Insertion of screws at the fracture level did not improve outcomes. CONCLUSION: The data of this study identified a trend towards better radiological outcomes for fracture reduction and maintenance of the correction in the 2/2 fixations. However these results are not statistically significant. Future multicenter prospective clinical trials are needed in order to agree on the ideal management and method of fixation for thoracolumbar fractures.

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