Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference.

Sickle Cell Disease (SCD) is an increasing global health problem and presents significant challenges to European health care systems. Newborn screening (NBS) for SCD enables early initiation of preventive measures and has contributed to a reduction in childhood mortality from SCD. Policies and methodologies for NBS vary in different countries, and this might have consequences for the quality of care and clinical outcomes for SCD across Europe. A two-day Pan-European consensus conference was held in Berlin in April 2017 in order to appraise the current status of NBS for SCD and to develop consensus-based statements on indications and methodology for NBS for SCD in Europe. More than 50 SCD experts from 13 European countries participated in the conference. This paper aims to summarise the discussions and present consensus recommendations which can be used to support the development of NBS programmes in European countries where they do not yet exist, and to review existing programmes.

Electrochemical modification of indium tin oxide using di(4-nitrophenyl) iodonium tetrafluoroborate.

Optoelectronic applications often rely on indium tin oxide (ITO) as a transparent electrode material. Improvements in the performance of such devices as photovoltaics and light-emitting diodes often requires robust, controllable modification of the ITO surface to enhance interfacial charge transfer properties. In this work, modifier films were deposited onto ITO by the electrochemical reduction of di(4-nitrophenyl) iodonium tetrafluoroborate (DNP), allowing for control over surface functionalization. The surface coverage could be tuned from submonolayer to multilayer coverage by either varying the DNP concentration or the number of cyclic voltammetry (CV) grafting scans. Modification of ITO with 0.8 mM DNP resulted in near-monolayer surface coverage (4.95 × 10(14) molecules/cm(2)). X-ray photoelectron spectroscopy (XPS) analysis confirmed the presence of 4-nitrophenyl (NO2Ph) moieties on the ITO surface through the detection of a NO2 nitrogen signal at 405.6 eV after grafting. Further XPS evidence suggests that the NO2Ph radicals do not bond to the surface indium or tin sites, consistent with modification occurring either through bonding to surface hydroxyl groups or through strong physisorption on ITO. CV in the presence of an electroactive probe and electrochemical impedance spectroscopy (EIS) were used to investigate the electronic effects that modification via DNP has on ITO. Even at submonolayer coverage, the insulating organic films can reduce the current response to ferrocene oxidation and reduction by more than 25% and increase the charge transfer resistance by a factor of 10.

Understanding the accuracy of modelled changes in freshwater provision over time.

Accurate modelling of changes in freshwater supplies is critical in an era of increasing human demand, and changes in land use and climate. However, there are concerns that current landscape-scale models do not sufficiently capture catchment-level changes, whilst large-scale comparisons of empirical and simulated water yield changes are lacking. Here we modelled annual water yield in two time periods (1: 1985-1994 and 2: 2008-2017) across 81 catchments in England and validated against empirical data. Our objectives were to i) investigate whether modelling absolute or relative change in water yield is more accurate and ii) determine which predictors have the greatest impact on model accuracy. We used the Integrated Valuation of Ecosystem Services and Tradeoffs (InVEST) Annual Water Yield model. In this study, absolute values refer to volumetric units of million cubic metres per year (Mm3/y), either at the catchment or hectare level. Modelled annual yields showed high accuracy as indicated by the low Mean Absolute Deviation (MAD, based on normalised data, 0 is high and 1 is low accuracy) at the catchment (1: 0.013 ± 0.019, 2: 0.012 ± 0.020) and hectare scales (1: 0.03 ± 0.030, 2: 0.030 ± 0.025). But accuracy of modelled absolute change in water yield showed a more moderate fit on both the catchment (MAD = 0.055 ± 0.065) and hectare (MAD = 0.105 ± 0.089) scales. Relative change had lower accuracy (MAD = 0.189 ± 0.135). Anthropogenic modifications to the hydrological system, including water abstraction contributed significantly to the inaccuracy of change values at the catchment and hectare scales. Quantification of changes in freshwater provision can be more accurately articulated using absolute values rather than using relative values. Absolute values can provide clearer guidance for mitigation measures related to human consumption. Accuracy of modelled change is related to different aspects of human consumption, suggesting anthropogenic impacts are critically important to consider when modelling water yield.

Patient experiences with telehealth in sleep medicine: a qualitative evaluation.

STUDY OBJECTIVES: The field of sleep medicine has been an avid adopter of telehealth, particularly during the COVID-19 pandemic. The goal of this study was to assess patients' experiences receiving sleep care by telehealth. METHODS: From June 2019 to May 2020, the authors recruited a sample of patients for semi-structured interviews, including patients who had 1 of 3 types of telehealth encounters in sleep medicine: in-clinic video, home-based video, and telephone. Two analysts coded transcripts using content analysis and identified themes that cut across patients and categories. RESULTS: The authors conducted interviews with 35 patients and identified 5 themes. (1) Improved access to care: Patients appreciated telehealth as providing access to sleep care in a timely and convenient manner. (2) Security and privacy: Patients described how home-based telehealth afforded them greater feelings of safety and security due to avoidance of anxiety-provoking triggers (eg, crowds). Patients also noted a potential loss of privacy with telehealth. (3) Personalization of care: Patients described experiences with telehealth care that either improved or hindered their ability to communicate their needs. (4) Patient empowerment: Patients described how telehealth empowered them to manage their sleep disorders. (5) Unmet needs: Patients recognized specific areas where telehealth did not meet their needs, including the need for tangible services (eg, mask fitting). CONCLUSIONS: Patients expressed both positive and negative experiences, highlighting areas where telehealth can be further adapted. As telehealth in sleep medicine continues to evolve, the authors encourage providers to consider these aspects of the patient experience. CITATION: Donovan LM, Mog AC, Blanchard KN, et al. Patient experiences with telehealth in sleep medicine: a qualitative evaluation. J Clin Sleep Med. 2021;17(8):1645-1651.

Sickle cell disease and thalassaemia antenatal screening programme in England over 10 years: a review from 2007/2008 to 2016/2017.

OBJECTIVES: To evaluate the antenatal sickle cell and thalassaemia screening programme in England over 10 years from 1 April 2007 to 31 March 2017. METHODS: Four routine data sources were used: antenatal screening laboratory data; key performance indicator data from maternity trusts; prenatal diagnosis (PND) laboratory data and data from screening incidents. RESULTS: For the 10 years examined a total of 6608 575 booking samples were reported as screened, and 154 196 pregnant women required further testing. There were 3941 reported PND tests of which there were 964 affected fetal results. Antenatal test coverage and Family Origin Questionnaire completion rates are high and increasing; the proportion of tests declined has decreased. However, there is wide variation in the timing of antenatal tests and completeness of follow-up and testing. Since 2014/2015 a lower proportion of PND tests are performed by the programme standard of 12+6 weeks. Results suggest that PND timing affects reproductive choices as those with an affected fetus identified by PND testing earlier are more likely to terminate the pregnancy. CONCLUSIONS: The screening programme appears to be widely accepted as part of routine antenatal care in England. However, the timeliness of screening and subsequent PND testing has consistently not met programme standards. Improving timeliness would enable individuals to consider their options to make informed choices for their pregnancies at the appropriate time. This paper reports carrier rates for an almost complete cohort of women which provides important epidemiological information on the genetic profile of women in England.

The effect of constitutive pigmentation on the measured emissivity of human skin.

BACKGROUND: The measurement of body temperature has become commonplace in the current COVID-19 pandemic. Body temperature can be measured using thermal infrared imaging, a safe, non-contact method that relies on the emissivity of the skin being known to provide accurate readings. Skin pigmentation affects the absorption of visible light and enables us to see variations in skin colour. Pigmentation may also affect the absorption of infrared radiation and thus affect thermal imaging. Human skin has an accepted emissivity of 0.98 but the effect of different skin pigmentation on this value is not known. In this study, we investigated the influence of different skin pigmentation on thermal emissivity in 65 adult volunteers. METHODS: A reference object of known emissivity (electrical tape) was applied to participant's skin on the inner upper arm. Tape and arm were imaged simultaneously using a thermal infrared camera. The emissivity was set on the camera to the known value for electrical tape. The emissivity was altered manually until the skin temperature using thermal imaging software was equal to the initial tape temperature. This provided the calculated emissivity value of the skin. Participants were grouped according to skin pigmentation, quantified using the Fitzpatrick skin phototyping scale and reflectance spectrophotometry. Differences in emissivity values between skin pigmentation groups were assessed by one-way ANOVA. RESULTS: The mean calculated emissivity for the 65 participants was 0.972 (range 0.96-0.99). No significant differences in emissivity were observed between participants when grouped by skin pigmentation according to the Fitzpatrick scale (p = 0.859) or reflectance spectrophotometry (p = 0.346). CONCLUSION: These data suggest that skin pigmentation does not affect thermal emissivity measurement of skin temperature using thermal infrared imaging. This study will aid further research into the application of thermal infrared imaging as a screening or bedside diagnostic tool in clinical practice.

Mapping eutrophication risk from climate change: Future phosphorus concentrations in English rivers.

Climate change is expected to increase eutrophication risk in rivers yet few studies identify the timescale or spatial extent of such impacts. Phosphorus concentration, considered the primary driver of eutrophication risk in English rivers, may increase through reduced dilution particularly if river flows are lower in summer. Detailed models can indicate change in catchment phosphorus concentrations but targeted support for mitigation measures requires a national scale evaluation of risk. In this study, a load apportionment model is used to describe the current relationship between flow and total reactive phosphorus (TRP) at 115 river sites across England. These relationships are used to estimate TRP concentrations for the 2050s under 11 climate change driven scenarios of future river flows and under scenarios of both current and higher levels of sewage treatment. National maps of change indicate a small but inconsistent increase in annual average TRP concentrations with a greater change in summer. Reducing the TRP concentration of final sewage effluent to 0.5mg/L P for all upstream sewage treatment works was inadequate to meet existing P standards required through the EU Water Framework Directive, indicating that more needs to be done, including efforts to reduce diffuse pollution.

The microcirculation and its measurement in sepsis.

The microcirculation describes the smallest elements of the cardiovascular conducting system and is pivotal in the maintenance of homeostasis. Microcirculatory dysfunction is present early in the pathophysiology of sepsis, with the extent of microcirculatory derangement relating to disease severity and prognosis in ICU patients. However, at present microcirculatory function is not routinely monitored at the bedside. This article describes the pathophysiology of microcirculatory derangements in sepsis, methods of its measurement and evidence to support their clinical use.

Selective surface functionalization at regions of high local curvature in graphene.

Monolayer graphene was deposited on a Si wafer substrate decorated with SiO(2) nanoparticles (NPs) and then exposed to aryl radicals that were generated in situ from their diazonium precursors. Using micro-Raman mapping, the aryl radicals were found to selectively react with the regions of graphene that covered the NPs. The enhanced chemical reactivity was attributed to the increased strain energy induced by the local mechanical deformation of the graphene.

Graphene growth using a solid carbon feedstock and hydrogen.

Graphene has been grown on Cu at elevated temperatures with different carbon sources (gaseous hydrocarbons and solids such as polymers); however the detailed chemistry occurring at the Cu surface is not yet known. Here, we explored the possibility of obtaining graphene using amorphous-carbon thin films, without and with hydrogen gas added. Graphene is formed only in the presence of H(2)(g), which strongly suggests that gaseous hydrocarbons and/or their intermediates are what yield graphene on Cu through the reaction of H(2)(g) and the amorphous carbon. The large area, uniform monolayer graphene obtained had electron and hole mobilities of 2520 and 2050 cm(2) V(-1) s(-1), respectively.