Clinical Ethics Case Study 8: Should we carry out a predictive genetic test in our young patient?

case studyReferral to the Clinical Ethics Committee: A request for genetic testing in childhood. S, a five-year old boy, has recently been seen with his mother C in the paediatric outpatient clinic. Sadly his father N died from metastatic cancer a few months ago, aged 30 years. Other members of N’s family have died in childhood or early adulthood from various forms of cancer. While N was unwell, it was discovered that he carried a mutation in the TP53 gene associated with Li-Fraumeni Syndrome (LFS). LFS is a cancer predisposition syndrome leading to a high risk of various aggressive cancers, including leukaemia, melanoma, soft-issue sarcoma and pancreatic, colon, brain or breast cancer. LFS runs in families and is inherited as an autosomal dominant trait, such that any child of a person with the TP53 gene change will have a 50% risk of inheriting the same mutation and a resultant high chance of developing one of these cancers. The type or age of onset of these cancers cannot be predicted. When N was unwell, his oncologists suggested that S be referred to a clinical genetics service for genetic testing for LFS. At that time the clinical team thought it was appropriate that testing should go ahead, however the laboratory that received the sample for testing let it be known that they thought it was not appropriate to test because S was a minor and that guidelines on genetic testing in children suggested such a test should not be done routinely. Testing therefore did not go ahead. The genetics team then referred S to a consultant paediatrician, recommending annual surveillance in accordance with professional guidelines written by a paediatric oncology society. This surveillance includes a thorough physical examination, routine blood tests (which may reveal leukaemia, for example), abdominal ultrasound to detect intra-abdominal malignancy and other indicated organ-specific surveillance tests. However, none of these measures have been shown to be effective in reducing morbidity or mortality for LFS. When we (the paediatricians) met S and his mother C in the outpatient clinic, we explained the surveillance programme, but indicated that a cancer, if it were to occur, might reveal itself between the annual checks, and might not be detected even if present. We discussed that there is little evidence that surveillance would improve the prognosis even if her son did carry the TP53 gene change. C was also warned that some screening methods, such as CT scanning, produce radiation in high doses and so could actually increase his risk of cancer if he was affected over and above detecting any abnormality. However, MRI scanning would be used when possible. During this recent appointment, C expressed her disappointment that S was not able to receive a genetic test for LFS. She was finding it difficult to manage his at-risk status and was particularly worried that whenever he developed an illness, or abdominal pain (both relatively common in childhood), he would require potentially complex and unpleasant tests. C said that if she knew his gene status, not only would she have greater certainty about what the future held, but unnecessary investigations might be avoided. We established that S was thriving and was not displaying any signs of ill health. We discussed the various issues with C, and although we felt that gene testing was a reasonable option we were concerned that to test now would deny S any say in the matter and that he might (when old enough) decide he would rather not know his risk status. On the other hand, we were also sympathetic to the idea of C’s parental autonomy to make decisions that were best for her family. If S’s status could be established now then he may be able to avoid further screening, although the uncertainty over the benefit of screening is also a difficult issue to resolve. We are approaching the ethics committee with the following questions in mind: 1. Should S be tested now for Li-Fraumeni syndrome? 2. In cases like this, how should we balance the interests of S with those of C or their wider family? 3. If we decide not to test S, how should this be managed in the clinic and with S over time? Or, If we do test him, how should this result be disclosed to S and when? 4. How should intra-disciplinary conflicts, such as a disagreement between the laboratory and the clinical team, be handled in practice?This article was written by Dr Ainsley Newson during the time of her employment with the University of Bristol, UK (2006-2012). Self-archived in the Sydney eScholarship Repository with permission of Bristol University, Sept 2014

Effectiveness of septoplasty versus non-surgical management for nasal obstruction due to a deviated nasal septum in adults: study protocol for a randomized controlled trial

Contains fulltext : 152163.pdf (publisher's version ) (Open Access)BACKGROUND: Septoplasty, i.e., surgical correction of the deviated nasal septum, is the most common ear, nose and throat (ENT) operation in adults. Currently the main indication to perform septoplasty is nasal obstruction. However, the effectiveness of septoplasty for nasal obstruction in adults with a deviated nasal septum remains uncertain. Scientific evidence is scarce and inconclusive, and internationally accepted guidelines are lacking. Moreover, there is no consensus on whether or not septoplasty should be combined with concurrent turbinate surgery. The objective of the current ongoing trial is to study the effectiveness of septoplasty (with or without concurrent turbinate surgery) as compared to non-surgical management for nasal obstruction in adults with a deviated nasal septum, both in terms of subjective (health-related quality of life) as well as objective (nasal patency) outcome measures. METHODS/DESIGN: The study is designed as a pragmatic, multicenter, parallel-group, randomized controlled trial. A total of 200 adults will be enrolled with nasal obstruction based on a deviated nasal septum and an indication for septoplasty according to current medical practice in the Netherlands. Participants will be randomized to either septoplasty (with or without concurrent turbinate surgery as originally indicated by the otorhinolaryngologist) or a non-surgical watchful waiting strategy. Follow-up visits will be scheduled at 0, 3, 6, 12, and 24 months. During each follow-up visit, health-related quality of life questionnaires will be administered and measurements of four-phase rhinomanometry and peak nasal inspiratory flow will be performed. Costs will be studied using a patient-based diary. Effects of septoplasty on health-related quality of life (primary outcome) and nasal patency will be calculated as mean differences with 95 % confidence intervals. Subgroup analyses according to gender, age, and severity of the septal deviation will be performed. All analyses will be performed on an intention-to-treat basis. DISCUSSION: With the results of this study we aim to contribute to the development of evidence-based guidelines regarding indications for septoplasty. TRIAL REGISTRATION: Nederlands Trial Register/Dutch Trial Registry ( www.trialregister.nl ), trial identifying number: NTR3868 . Registered on 21 February 2013

Three dimensional measurement of rhinoplasty results.

Contains fulltext : 81151.pdf (publisher's version ) (Open Access)BACKGROUND: Pre- and postoperative imaging is important and essential for evaluation of the results of rhinoplasty surgery. Two-dimensional photographs are used routinely for this purpose, but have several disadvantages as opposed to three-dimensional imaging techniques, such as stereophotogrammetry. This study is the first to describe the measurement of rhinoplasty results using stereophotogrammetry. The aim of this study was to evaluate the ability of 3D imaging to measure and objectify rhinoplasty results. METHODS: During a 6-month period all consecutive hump reduction patients were included in this prospective study. Pre- and postoperative 3D photographs were taken and compared. RESULTS: Twelve patients were studied. In ten of these twelve patients a significant volume reduction in the area of the nasal dorsum was found with stereophotogrammetry. The maximum decrease (i.e. lowering) of the nasal dorsum ranged from 0.8 to 4.4 mm. In two patients no reduction of the nasal dorsum was found. In both patients this was due to additional changes made to the nose during surgery. These changes, increased tip rotation and dorsal augmentation respectively, were also documented with stereophotogrammetry. CONCLUSIONS: Both pronounced as well as subtle postoperative changes of rhinoplasty surgery can be objectified and measured with stereophotogrammetry. This tool can be used to study whether surgical techniques have the desired effect on the nose, and to compare different techniques with each other

Validation of sonotubometry in healthy adults.

Contains fulltext : 51141.pdf (publisher's version ) (Open Access)BACKGROUND: Frequent active opening of the eustachian tube (ET) allows ventilation of the middle ear and equilibration of pressure changes. Active opening is accomplished by the contraction of the paratubal muscles during swallowing. Because a disturbance of the ventilatory function of the ET may contribute to the development of otitis media with effusion, it is important to investigate ET function. Sonotubometry can be used to detect whether the ET can open or not during swallowing acts. METHODS: We developed a sonotubometer to test ET ventilatory function in 36 healthy adults. The width of the test signal frequency was between 5500 and 8500 Hz (centre frequency of 7000 Hz) and the loudness was 95 dB. To test reproducibility, testing took place in two sessions of 10 swallowing acts each. RESULTS: Opening of the ET could be registered in 91.6 per cent of the subjects in at least one of the two measurements. The first and the second measurements were highly correlated, with a Spearman's coefficient of 0.907. CONCLUSION: We confirmed that there is generally a good ventilatory ET function in otologically healthy adults, although, in a few cases, ET opening was not registered. Furthermore, we confirmed that our sonometric test equipment had acceptable reproducibility. Sonotubometry is a promising method for assessing ventilatory ET function. Research is ongoing to test the discriminative power of sonotubometry in children with various otological conditions

Which techniques are relevant in the surgical management of the nasal tip.

Item does not contain fulltex

Guillotine vs. classic dissection adenotonsillectomy: What's the ideal technique for children in Tanzania?

Contains fulltext : 177752.pdf (publisher's version ) (Closed access)OBJECTIVES: Adenotonsillectomy (ATE) is one of the most performed surgeries in children. Extensive research on which operation technique is the best in terms of minimal pain and complications, operative time and duration of hospital stay is being done mostly in highly resourced developing countries. In developing countries a need for cost effective and time saving operation techniques is essential due to the low-resource setting. This study aims to investigate whether the Guillotine Sluder operation techniques is ideal in a limited resource developing country setting. METHODS: A retrospective cohort study was conducted on children below 12 years of age who underwent ATE at the Kilimanjaro Christian Medical Center, a tertiary hospital in Northern Tanzania, in a period of 2 years to compare the guillotine Sluder and classic dissection ATE techniques. All procedures were done by the same surgeon. Incomplete patient information and congenital syndromes were exclusion criteria for the study. RESULTS: Both operative time and duration of hospital stay were significantly shorter in the guillotine Sluder group (3,5 min with 95% CI 1,1 to 5,9 min, and 0,4 days with 95% CI 0,2 to 0,6 days respectively). The rate of complications was not statistically different between the two groups. The overall rate of complications was comparable to that of Western countries. No difference was found in mean amount of blood loss during operation. CONCLUSIONS: Our results conclude that guillotine Sluder tonsillectomy is a safe procedure that has some advantages compared to classic dissection in children in Tanzania. The shorter operative time and time in hospital stay combined with the low complication rate makes the guillotine Sluder technique a very suitable technique for children in Tanzania and comparable limited resource developing country settings

Alarm Bell

Item does not contain fulltex

External Auditory Canal Stenosis After Traumatic Auricular Amputation

BACKGROUND: The auricles are easily injured or amputated in case of head trauma. Inadequate treatment of the external auditory canal (EAC) after auricular injury is often seen and can lead to significant complications of the EAC. CASE REPORT: The authors report 4 cases of auricular injury or amputations. In all patients inadequate first treatment led to stenosis of the EAC. Three patients required recanalization of the EAC because of hearing loss and the risk of further complications. CONCLUSION: Treatment of auricular injury should consist of (pre-emptive) packing of the EAC with antibiotic gauzes followed by thorough examination of the EAC to prevent canal stenosis and subsequent complications

Septoplasty for nasal obstruction due to a deviated nasal septum in adults: a systematic review

Contains fulltext : 196438.pdf (publisher's version ) (Open Access)BACKGROUND: The status of current evidence for the effectiveness of septoplasty is unclear. This systematic review evaluates the effectiveness of a) septoplasty (with or without concurrent turbinate surgery) versus non-surgical management, and b) septoplasty with concurrent turbinate surgery versus septoplasty alone, for nasal obstruction due to a deviated nasal septum in adults. METHODOLOGY: Eligible for inclusion were randomised controlled trials and non-randomised designs comparing treatment strategies. Risk of bias was assessed using Cochrane's tool. Standardised mean differences and risk differences with 95% confidence intervals were calculated. Substantial heterogeneity between included studies did not allow meta-analyses. RESULTS: No studies were found comparing septoplasty (with or without concurrent turbinate surgery) to non-surgical management, but 11 articles were included to compare septoplasty with concurrent turbinate surgery to septoplasty alone. Five studies described both subjective and objective outcomes; six studies reported one or the other. Risk of bias was overall high. Although outcomes generally improved after treatment, eight out of nine studies on subjective measures and five out of seven studies on objective measures found no additional benefit of turbinate surgery. CONCLUSIONS: Despite the routine application of septoplasty in clinical practice, the current body of evidence does not support firm conclusions on its effectiveness