ACE consensus meeting report: oocyte and embryo cryopreservation Sheffield 17.05.11

The UK Association of Clinical Embryologists (ACE) held a consensus workshop on Oocyte and Embryo Cryopreservation in Sheffield, UK, on May 17th, 2011. This was organized in response to a number of considerations including the increasing prevalence of vitrification for oocyte and embryo cryopreservation in the UK and worldwide, coupled with an apparent lack of consensus over which methods of cryopreservation are optimal. The workshop included expert opinion and survey data on current practice provided by participating clinics. The workshop highlighted that an increasing number of clinics in the UK are choosing vitrification rather than controlled rate freezing, particularly for the storage of oocytes and blastocysts. It was evident that a variety of solutions are used in conjunction with open and closed containers. Data supplied by the participating clinics suggest that both freezing and vitrification can lead to similar outcomes in early embryos and blastocysts and at the moment there is no evidence base to recommend either method over the other. The delegates arrived at a number of consensus points which reflected current practice in the UK, but recognized the need for well-designed trials with careful follow up of the children born before optimal methods can be agreed.     

Activation of the ERK/MAPK pathway: a signature genetic defect in posterior fossa pilocytic astrocytomas

We report genetic aberrations that activate the ERK/MAP kinase pathway in 100% of posterior fossa pilocytic astrocytomas, with a high frequency of gene fusions between KIAA1549 and BRAF among these tumours. These fusions were identified from analysis of focal copy number gains at 7q34, detected using Affymetrix 250K and 6.0 SNP arrays. PCR and sequencing confirmed the presence of five KIAA1549–BRAF fusion variants, along with a single fusion between SRGAP3 and RAF1. The resulting fusion genes lack the auto‐inhibitory domains of BRAF and RAF1, which are replaced in‐frame by the beginning of KIAA1549 and SRGAP3, respectively, conferring constitutive kinase activity. An activating mutation of KRAS was identified in the single pilocytic astrocytoma without a BRAF or RAF1 fusion. Further fusions and activating mutations in BRAF were identified in 28% of grade II astrocytomas, highlighting the importance of the ERK/MAP kinase pathway in the development of paediatric low‐grade gliomas. Copyright © 2009 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.     

Steering without navigation equipment: the lamentable state of Australian health policy reform

Background

Commentary on health policy reform in Australia often commences with an unstated logical error: Australians' health is good, therefore the Australian Health System is good. This possibly explains the disconnect between the options discussed, the areas needing reform and the generally self-congratulatory tone of the discussion: a good system needs (relatively) minor improvement.

Results

This paper comments on some issues of particular concern to Australian health policy makers and some areas needing urgent reform. The two sets of issues do not overlap. It is suggested that there are two fundamental reasons for this. The first is the failure to develop governance structures which promote the identification and resolution of problems according to their importance. The second and related failure is the failure to equip the health services industry with satisfactory navigation equipment - independent research capacity, independent reporting and evaluation - on a scale commensurate with the needs of the country's largest industry. These two failures together deprive the health system - as a system - of the chief driver of progress in every successful industry in the 20th Century.

Conclusion

Concluding comment is made on the National Health and Hospitals Reform Commission (NHHRC). This continued the tradition of largely evidence free argument and decision making. It failed to identify and properly analyse major system failures, the reasons for them and the form of governance which would maximise the likelihood of future error leaning. The NHHRC itself failed to error learn from past policy failures, a key lesson from which is that a major - and possibly the major - obstacle to reform, is government itself. The Commission virtually ignored the issue of governance. The endorsement of a monopolised system, driven by benevolent managers will miss the major lesson of history which is illustrated by Australia's own failures.

     

Clinical implementation of NIPT – technical and biological challenges

Non‐invasive prenatal testing (NIPT) for fetal aneuploidy detection is increasingly being offered in the clinical setting. Whereas the majority of tests only report fetal trisomies 21, 18 and 13, genome‐wide analyses have the potential to detect other fetal, as well as maternal, aneuploidies. In this review, we discuss the technical and clinical advantages and challenges associated with genome‐wide cell‐free fetal DNA profiling.     

Impairment-targeted exercises for older adults with knee pain: protocol for a proof-of-principle study

Background  

Exercise therapy for knee pain and osteoarthritis remains a key element of conservative treatment, recommended in clinical guidelines. Yet systematic reviews point to only modest benefits from exercise interventions.