Clinical molecular genetics in the UK c.1975-c.2000

seminar transcriptChaired by Professor Martin Bobrow and introduced by Professor Bob Williamson, this Witness Seminar included geneticists from a broad range of research and clinical specialities. Discussions of molecular research into haemoglobin disorders, and the development of probes for related genes in the 1970s, included particular acknowledgment of Southern blotting as a critical tool for such research. Also noted was a landmark conference in Crete in 1978 that emphasized the special significance of research work on thalassaemia, as well as providing fruitful networking opportunities for scientists from around the world. Similarly, in 1982, a key course at Leiden University introduced molecular techniques to geneticists from across Europe. In that same year the first prenatal diagnosis by chorionic villus sampling was published, and the emotional aspects of such genetic diagnoses for patients, families and clinicians were frequently discussed during the seminar. Other issues, including the funding of research, and especially the role of patient support groups; the establishment and growth of professional interest groups and bodies such as the Clinical Molecular Genetics Society; and the development of national genetics

Medical genetics: Development of ethical dimensionsin clinical practice and research

A Witness Seminar on the emergence of complex ethical issues in clinical genetics practice, the evolution of these issues over several decades of advances in medical genetics research and social change, and the professionalization of this field. Chaired by Professor Anneke Lucassen (Southampton) with an introduction by Professor Richard Ashcroft (QMUL). '… most of us going in as clinicians and coming out as clinical geneticists had absolutely zero grounding in philosophy, psychology, or any other kind of ‘ology’ really.' Professor Peter Harper ‘… the whole healthcare system is geared up to the individual, largely, to the person with a symptom who comes and needs to be assessed and investigated and treated and so on. … the true patient in the genetics clinic is the family, not only the individual.’ Professor Peter Turnpenn

Bioactivity of toothpaste containing bioactive glass in remineralizing media: effect of fluoride release from the enzymatic cleavage of monofluorophosphate

Objectives. The aim was to introduce a new methodology to characterize toothpaste containing bioactive glass and to evaluate the effect of release of fluoride ions, by cleaving monofluorophosphate (MFP), on the mineral forming ability of Sensodyne Repair & Protect (SRP). which contains NovaMinTM (bioactive glass, 45S5 composition). Methods. SRP, NovaMin particles, and placebo paste (PLA) which did not contain NovaMin, were immersed into a remineralization media (RS), which mimics the ionic strength of human saliva, for 3 days with different concentrations of alkaline phosphatase (ALP): 0, 25 and 75 U.L−1. Ion concentration profiles and pH were monitored by ICPOES and F− ion selective electrode. Remaining solids were collected by freeze-drying and their surfaces analysed. Results. Hydroxyapatite (HA) formed on the surface of BG alone (after 1 h) and in toothpaste (after 2 h), whereas PLA did not induce any precipitation. ALP cleaved MFP at different rates depending on the enzyme concentration. Increasing the concentration of ALP from 0 and 75 U.L−1 reduced the time of HA formation from 2 h to 24 h. However, the presence of fluoride induced the precipitation of fluorapatite. No evidence of fluorite (CaF2) was observed. The apatite formation ability of toothpaste can be assessed using the presented method

The Development of Narrative Practices in Medicine c.1960-c.2000

‘… if I have to explain to someone, like the anthropologist from Mars, what any of these words like compassion or whatever is, sooner or later I have to tell them a story.’ Professor Arthur Frank Chaired by Professor Brian Hurwitz (King’s College), this Witness Seminar discusses the origins and evolution of ‘narrative medicine’ as an intellectual and educational field. Featuring the testimonies of contributors from the USA, Canada, UK and Europe, topics include the introduction of humanities into medical education; the influence of medical ethics debates, and the development of bioethics; the impact of political and social movements, for example on disability issues; the emergence of palliative care; patient literature on illness experiences such as cancer, as well as the interdisciplinary underpinnings of narrative practices in medicine derived from philosophical spheres such as hermeneutics, and from the fields of psychoanalysis, psychiatry, and the social sciences. The volume also features an introduction by Professor Trisha Greenhalgh (Oxford).Wellcome Trust History of Modern Biomedicine Research Grou

Beyond the 'post-industrial' city: valuing and planning for industry in London

This paper examines the challenges that planners face if industry is to survive and thrive in a growing ‘post-industrial’ city. It examines London, where the difference between the value of land for residential and industrial use, and the pressure to address the housing crisis, is leading to the rapid loss of industrial land and premises. The paper first explores the role of industry in a high-value city such as London, arguing that trends in manufacturing in advanced economies are increasing the benefit for firms of an urban location, whilst at the same time, cities continue to need industry if they are to be economically and socially resilient, sustainable and vibrant. The paper then explores current approaches to planning for industry in London, identifying impacts of a policy framework that anticipates and plans for its decline. Finally, it focuses on the question of how to plan for a productive and inclusive city: we explore the arguments in favour of integrating industry into the urban fabric as well as the benefits of separating land uses and retaining employment land designations, and reveal how urbanists are divided. We argue that if London is to continue to prosper, and meet the needs of all Londoners, then we need to strategically and proactively plan for industry in the city, to experiment with innovative ways of integrating it with other city uses, whilst protecting land for industry, where required. We put forward a critical research agenda to effectively meet this challenge in the future

Evaluating Patient Preferences of Maintenance Therapy for the Treatment of Chronic Obstructive Pulmonary Disease: A Discrete Choice Experiment in the UK, USA and Germany.

Introduction: With increasing availability of different treatments for chronic obstructive pulmonary disease (COPD), we sought to understand patient preferences for COPD treatment in the UK, USA, and Germany using a discrete choice experiment (DCE). Methods: Qualitative research identified six attributes associated with COPD maintenance treatments: ease of inhaler use, exacerbation frequency, frequency of inhaler use, number of different inhalers used, side effect frequency, and out-of-pocket costs. A DCE using these attributes, with three levels each, was designed and tested through cognitive interviews and piloting. It comprised 18 choice sets, selected using a D-efficient experimental design. Demographics and disease history were collected and the final DCE survey was completed online by participants recruited from panels in the UK, USA and Germany. Responses were analyzed using mixed logit models, with results expressed as odds ratios (ORs). Results: Overall, 450 participants (150 per country) completed the DCE; most (UK and Germany, 97.3%; USA, 98.0%) were included in the final analysis. Based on relative attribute importance, avoidance of side effects was found to be most important (UK: OR 11.65; USA: OR 7.17; Germany: OR 11.45; all p<0.0001), followed by the likelihood of fewer exacerbations (UK: OR 2.22; USA: OR 1.63; Germany: OR 2.54; all p<0.0001) and increased ease of use (UK: OR 1.84; USA: OR 1.84; Germany: OR 1.60; all p<0.0001). Number of inhalers, out-of-pocket costs, and frequency of inhaler use were found to be less important. Preferences were relatively consistent across the three countries. All participants required a reduction in exacerbations to accept more frequent inhaler use or use of more inhalers. Conclusion: When selecting COPD treatment, individuals assigned the highest value to the avoidance of side effects, experiencing fewer exacerbations, and ease of inhaler use. Ensuring that patients' preferences are considered may encourage treatment compliance

Found: High Surface Brightness Compact Galaxies

We are using the 2dF spectrograph to make a survey of all objects (`stars' and `galaxies') in a 12 sq.deg region towards the Fornax cluster. We have discovered a population of compact emission-line galaxies unresolved on photographic sky survey plates and therefore missing in most galaxy surveys based on such material. These galaxies are as luminous as normal field galaxies. Using H-alpha to estimate star formation they contribute at least an additional 5 per cent to the local star formation rate.Comment: To appear in "The Low Surface Brightness Universe", IAU Coll 171, eds. J.I. Davies et al., A.S.P. Conference Series. 3 pages, LaTex, 1 encapsulated ps-figure, requires paspconf.st

Mercury Exposure from Domestic and Imported Estuarine and Marine Fish in the U.S. Seafood Market

BACKGROUND: Methylmercury exposure causes a variety of adverse effects on human health. Per capita estimates of mercury exposure are critical for risk assessments and for developing effective risk management strategies. OBJECTIVE: This study investigated the impact of natural stochasticity in mercury concentrations among fish and shellfish harvested from the Atlantic Ocean, Pacific Ocean, and foreign shores on estimated mercury exposures. METHODS: Mercury concentrations and seafood consumption are grouped by supply region (Atlantic Ocean, Pacific Ocean, and foreign shores). Distributions of intakes from this study are compared with values obtained using national FDA (Food and Drug Administration) mercury survey data to assess the significance of geographic variability in mercury concentrations on exposure estimates. RESULTS: Per capita mercury intake rates calculated using FDA mercury data differ significantly from those based on mercury concentration data for each supply area and intakes calculated for the 90th percentile of mercury concentrations. CONCLUSIONS: Differences in reported mercury concentrations can significantly affect per capita mercury intake estimates, pointing to the importance of spatially refined mercury concentration data. This analysis shows that national exposure estimates are most influenced by reported concentrations in imported tuna, swordfish, and shrimp; Pacific pollock; and Atlantic crabs. Collecting additional mercury concentration data for these seafood categories would improve the accuracy of national exposure estimates

A Cross-Sectional Study of Factors Influencing Pre-Operative Anxiety in Orthognathic Patients

Orthognathic treatment is an important treatment modality to manage severe dentofacial discrepancies. Patients awaiting orthognathic surgery often experience increased anxiety, which may adversely affect post-operative recovery and treatment satisfaction. This study investigated the effects of a number of factors on pre-operative anxiety in orthognathic patients. Seventy patients prospectively recruited from three orthognathic centres in the UK completed a pre-operative questionnaire that included validated scales for measuring anxiety, social support, resilience, and coping styles. Sociodemographic data and satisfaction with the information provided by the clinical team were also elicited from the questionnaire. Univariable analysis showed that social support from a significant other (p = 0.026), resilience (p < 0.001), and satisfaction with the information provided by the clinical team (p = 0.002) were significantly associated with reduced anxiety, whilst avoidance coping (p < 0.001) and coping through seeking social support (p = 0.006) were significantly related to increased anxiety. With the exception of coping by seeking social support, these relationships retained significance in a multivariable regression analysis. Neither gender nor ethnicity moderated the effects of social support on pre-operative anxiety. These findings suggest potential avenues for clinicians to address with future interventions to reduce pre-operative anxiety. Further qualitative research may provide greater clarity on the relationship between these variables and anxiety

Aquatic Macrophyte Change in the UK Upland Waters Monitoring Network

Established in 1988, the UK Upland Waters Monitoring Network (UKUWMN) was initiated by the UK Government to monitor the effects of emission control legislation on the water chemistry and biodiversity of 22 lakes and streams across the UK. Since monitoring commenced, the water chemistry of most sites has shown clear signs of recovery (e.g. rising pH and declining labile aluminium concentrations). Aquatic plants are a key component of freshwater biodiversity, but their response to changes in water acidity have received much less attention than other biological groups such as fish or macroinvertebrates. Project-specific standardised plant survey methodologies have been used throughout the time-series, and these have been augmented by Water Framework Directive Common Standards Monitoring Methodology survey techniques at lake sites since 2009, and at stream sites since 2019. The current study aims to determine the extent to which these stream and lake plant communities may have responded to regional reductions in aquatic acidity and to what degree any recovery may be confounded by other drivers such as climate-related changes in water temperature, hydrology, flow and storminess, hydromorphology and additionally the changing light climate/ice cover environment in lakes. A second aim is to examine the preservation and scientific potential of plant DNA in lakes for reconstructing past aquatic plant assemblages by comparing the current water sample eDNA, annual sediment trap sedDNA and sediment core sedDNA records with the known biomonitoring records