Restoring the Chesapeake--A Watershed Education and Restoration Project for Virginia Youth

A watershed education and restoration project was started in the Virginia portion of the Chesapeake Bay watershed in 2002. Over 37,000 hardwood seedlings were distributed to school groups and 4-H leaders in 19 counties. A geographic information system (GIS) identified subwatersheds in greatest need of riparian restoration. A Web site provided educational material and facilitated communication. Results indicate 3 years are needed to develop partnerships necessary for large-scale projects such as this one. Hands-on activities like planting trees result in large knowledge gains. Use of land-use maps and a Web site also result in knowledge gain about watershed

Simulating Troublesome Contexts: How Multiple Roles within Ward-Based Simulations Promote Professional Nursing Competence

Nursing care is multifaceted and is practised within complex healthcare environments. Although the concept of competence itself is tenuous (Watson et al. 2002), achievement of nursing competencies remains an essential prerequisite for nurse registration in Ireland. The domains of nursing competence are: professional/ethical practice; holistic approaches to care and the integration of knowledge; organization and management of care; personal and professional development; and interpersonal relationships (An Bord Altranais 2005). At a conceptual level, these can be likened, somewhat, to threshold concepts insofar as they represent important transitions of practice and understanding. In this article, we illustrate how a ward-based simulation exercise with evolving scenarios and multiple role performances mimics ‘troublesome contexts’. We find that this exercise successfully promotes both nurse competence and understanding of threshold concepts through the embodiment of multiple identities (e.g. nurse, patient, relative, observer, etc.). Evaluations of this activity amongst a cohort of final year nursing students have consistently identified the transformative nature of this activity, particularly when acting in the ‘patient’ role. In this article, we describe the processes inherent in this simulation exercise and how the multiple layers of complexity are achieved. The very act of performing multiple identities and roles within an evolving complex environment we suggest, results in a consequential, transformed view (Meyer and Land 2003) of values, attitudes and behaviours in addition to enhancing nursing competence. Evidence of this is demonstrated in evaluations of the debriefing exercise undertaken immediately following simulation

The Age of Cyberchondria

The internet is a source of valuable medical information. However, it has the potential to increase anxiety in people who have no medical training, when it is employed as a diagnostic procedure. While hypochondriasis is a condition that is familiar in the medical literature, there is little research into the effects of technology on health anxiety and hypochondria. The literature supports the view that technology impacts on the management of one’s health and on the traditional doctor-patient relationships. Anxiety induced by health-related online search is an increasingly differentiated activity and is known in the field of cyberpsychology as cyberchondria. This literature review aims to evaluate a broad range of research studies concerning health anxiety, hypochondria, online medical information seeking and the emerging phenomenon of cyberchondria. Themes identified include: technology-facilitated health information seeking; the impact of medical online search on traditional doctor-patient relationships in the consultation process; the need for better health management; and, medical knowledge empowerment of patients. Aspects of health-related information-seeking behaviour relevant for cyberpsychology are also considered. The latest recommendations of the American Psychiatric Association Diagnostic and Statistical Manual of Mental Disorders V (DSM-V) working party regarding future classification of hypochondria and technology-facilitated symptom seeking are reported. Recommendations for further research include a large-scale study to assess the prevalence and nature of cyberchondria. The findings of the review are relevant for healthcare professionals, as the impact of the internet on patient behaviour and healthcare management is likely to increase steadily over time

Biomarker Discovery in Animal Health and Disease: The Application of Post-Genomic Technologies

The causes of many important diseases in animals are complex and multifactorial, which present unique challenges. Biomarkers indicate the presence or extent of a biological process, which is directly linked to the clinical manifestations and outcome of a particular disease. Identifying biomarkers or biomarker profiles will be an important step towards disease characterization and management of disease in animals. The emergence of post-genomic technologies has led to the development of strategies aimed at identifying specific and sensitive biomarkers from the thousands of molecules present in a tissue or biological fluid. This review will summarize the current developments in biomarker discovery and will focus on the role of transcriptomics, proteomics and metabolomics in biomarker discovery for animal health and disease

Frequent Storm Surges Affect the Groundwater of Coastal Ecosystems

Recent studies have focused on the effect of large tropical cyclones (hurricanes) on the shore, neglecting the role of less intense but more frequent events. Here we analyze the effect of the offshore tropical storm Melissa on groundwater data collected along the North America Atlantic coast. Our meta-analysis indicates that both groundwater level and specific conductivity significantly increased during Melissa, respectively reaching maximum values of 1.09 m and 25.2 mS/cm above pre-storm levels. Time to recover to pre-storm levels was 10 times greater for groundwater specific conductivity, with a median value of 20 days, while groundwater level had a median recovery time of 2 days. A frequency-magnitude analysis indicates that the percent of time with salinization is higher for Melissa than for energetic hurricanes. Given the high frequency of these events (return period of 1–2 years), and the long time needed for groundwater conditions to return to normal levels, we conclude that increasingly frequent moderate storms will have a significant impact on the ecology of vegetated shorelines

Assessment of the EU Member States' rules on health data in the light of GDPR

In the context of the Single Framework Contract Chafea/2018/Health/03 between the EUHealthSupport Consortium and the Consumers, Health and Food Executive Agency (Chafea), a study was conducted with the objective to examine and present the EU Member States’ rules governing the processing of health data in light of the GDPR, with the objective of highlighting possible differences and identifying elements that might affect the cross-border exchange of health data in the EU, and examining the potential for EU level action to support health data use and re-use. We distinguish between using health data for primary purposes (for treatment of the patient) and secondary purposes (for research, registries and management of the healthcare system). The study provides an evidence-based comparison of the state of play regarding health data governance within the EU. This will help to assess in what areas EU intervention might be needed and if so, through which types of measures, be it measures such as a Code of Conduct for data processing in the health area, which could be supported by an EU level implementing act or more direct legislative action, taking into account the particularities of the health systems in the Member States. The study uses a mixed-methods approach, consisting of the following elements: - Literature review to provide an overview of best practices, bottlenecks, policy options and possible solutions already identified in the literature. - Mapping legal and technical aspects of health data usage at national level to provide an overview of the differences among countries in legislation, regulation and governance models regarding processing health data. - In-depth case studies of national governance models for health data sharing. - Workshops held with MoH representatives, experts, stakeholder representatives and experts from national data protection offices. - Stakeholder Survey to cross validate and supplement the topics addressed and identified in the Member State legal and technical aspects mapping. The results of this study allow for a detailed assessment of possible elements at Member States/EU level that might affect the movement of health data across borders. It also identifies practices that could facilitate this exchange of data, as well as possible policy options for strategies in this area. Finally, we explored possibilities for sustainable governance structures for health data collection, processing and transfer, as well as measures empowering citizens to have more control of their own health data and to ensure portability and interoperability of these data

Ancestral Mutation in Telomerase Causes Defects in Repeat Addition Processivity and Manifests As Familial Pulmonary Fibrosis

The telomerase reverse transcriptase synthesizes new telomeres onto chromosome ends by copying from a short template within its integral RNA component. During telomere synthesis, telomerase adds multiple short DNA repeats successively, a property known as repeat addition processivity. However, the consequences of defects in processivity on telomere length maintenance are not fully known. Germline mutations in telomerase cause haploinsufficiency in syndromes of telomere shortening, which most commonly manifest in the age-related disease idiopathic pulmonary fibrosis. We identified two pulmonary fibrosis families that share two non-synonymous substitutions in the catalytic domain of the telomerase reverse transcriptase gene hTERT: V791I and V867M. The two variants fell on the same hTERT allele and were associated with telomere shortening. Genealogy suggested that the pedigrees shared a single ancestor from the nineteenth century, and genetic studies confirmed the two families had a common founder. Functional studies indicated that, although the double mutant did not dramatically affect first repeat addition, hTERT V791I-V867M showed severe defects in telomere repeat addition processivity in vitro. Our data identify an ancestral mutation in telomerase with a novel loss-of-function mechanism. They indicate that telomere repeat addition processivity is a critical determinant of telomere length and telomere-mediated disease

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Purpose We assessed the associations between population-based polygenic risk scores (PRS) for breast (BC) or epithelial ovarian cancer (EOC) with cancer risks forBRCA1andBRCA2pathogenic variant carriers. Methods Retrospective cohort data on 18,935BRCA1and 12,339BRCA2female pathogenic variant carriers of European ancestry were available. Three versions of a 313 single-nucleotide polymorphism (SNP) BC PRS were evaluated based on whether they predict overall, estrogen receptor (ER)-negative, or ER-positive BC, and two PRS for overall or high-grade serous EOC. Associations were validated in a prospective cohort. Results The ER-negative PRS showed the strongest association with BC risk forBRCA1carriers (hazard ratio [HR] per standard deviation = 1.29 [95% CI 1.25-1.33],P = 3x10(-72)). ForBRCA2, the strongest association was with overall BC PRS (HR = 1.31 [95% CI 1.27-1.36],P = 7x10(-50)). HR estimates decreased significantly with age and there was evidence for differences in associations by predicted variant effects on protein expression. The HR estimates were smaller than general population estimates. The high-grade serous PRS yielded the strongest associations with EOC risk forBRCA1(HR = 1.32 [95% CI 1.25-1.40],P = 3x10(-22)) andBRCA2(HR = 1.44 [95% CI 1.30-1.60],P = 4x10(-12)) carriers. The associations in the prospective cohort were similar. Conclusion Population-based PRS are strongly associated with BC and EOC risks forBRCA1/2carriers and predict substantial absolute risk differences for women at PRS distribution extremes.Peer reviewe

Case Reports1. A Late Presentation of Loeys-Dietz Syndrome: Beware of TGFβ Receptor Mutations in Benign Joint Hypermobility

Background: Thoracic aortic aneurysms (TAA) and dissections are not uncommon causes of sudden death in young adults. Loeys-Dietz syndrome (LDS) is a rare, recently described, autosomal dominant, connective tissue disease characterized by aggressive arterial aneurysms, resulting from mutations in the transforming growth factor beta (TGFβ) receptor genes TGFBR1 and TGFBR2. Mean age at death is 26.1 years, most often due to aortic dissection. We report an unusually late presentation of LDS, diagnosed following elective surgery in a female with a long history of joint hypermobility. Methods: A 51-year-old Caucasian lady complained of chest pain and headache following a dural leak from spinal anaesthesia for an elective ankle arthroscopy. CT scan and echocardiography demonstrated a dilated aortic root and significant aortic regurgitation. MRA demonstrated aortic tortuosity, an infrarenal aortic aneurysm and aneurysms in the left renal and right internal mammary arteries. She underwent aortic root repair and aortic valve replacement. She had a background of long-standing joint pains secondary to hypermobility, easy bruising, unusual fracture susceptibility and mild bronchiectasis. She had one healthy child age 32, after which she suffered a uterine prolapse. Examination revealed mild Marfanoid features. Uvula, skin and ophthalmological examination was normal. Results: Fibrillin-1 testing for Marfan syndrome (MFS) was negative. Detection of a c.1270G > C (p.Gly424Arg) TGFBR2 mutation confirmed the diagnosis of LDS. Losartan was started for vascular protection. Conclusions: LDS is a severe inherited vasculopathy that usually presents in childhood. It is characterized by aortic root dilatation and ascending aneurysms. There is a higher risk of aortic dissection compared with MFS. Clinical features overlap with MFS and Ehlers Danlos syndrome Type IV, but differentiating dysmorphogenic features include ocular hypertelorism, bifid uvula and cleft palate. Echocardiography and MRA or CT scanning from head to pelvis is recommended to establish the extent of vascular involvement. Management involves early surgical intervention, including early valve-sparing aortic root replacement, genetic counselling and close monitoring in pregnancy. Despite being caused by loss of function mutations in either TGFβ receptor, paradoxical activation of TGFβ signalling is seen, suggesting that TGFβ antagonism may confer disease modifying effects similar to those observed in MFS. TGFβ antagonism can be achieved with angiotensin antagonists, such as Losartan, which is able to delay aortic aneurysm development in preclinical models and in patients with MFS. Our case emphasizes the importance of timely recognition of vasculopathy syndromes in patients with hypermobility and the need for early surgical intervention. It also highlights their heterogeneity and the potential for late presentation. Disclosures: The authors have declared no conflicts of interes

The impact of immediate breast reconstruction on the time to delivery of adjuvant therapy: the iBRA-2 study

Background: Immediate breast reconstruction (IBR) is routinely offered to improve quality-of-life for women requiring mastectomy, but there are concerns that more complex surgery may delay adjuvant oncological treatments and compromise long-term outcomes. High-quality evidence is lacking. The iBRA-2 study aimed to investigate the impact of IBR on time to adjuvant therapy. Methods: Consecutive women undergoing mastectomy ± IBR for breast cancer July–December, 2016 were included. Patient demographics, operative, oncological and complication data were collected. Time from last definitive cancer surgery to first adjuvant treatment for patients undergoing mastectomy ± IBR were compared and risk factors associated with delays explored. Results: A total of 2540 patients were recruited from 76 centres; 1008 (39.7%) underwent IBR (implant-only [n = 675, 26.6%]; pedicled flaps [n = 105,4.1%] and free-flaps [n = 228, 8.9%]). Complications requiring re-admission or re-operation were significantly more common in patients undergoing IBR than those receiving mastectomy. Adjuvant chemotherapy or radiotherapy was required by 1235 (48.6%) patients. No clinically significant differences were seen in time to adjuvant therapy between patient groups but major complications irrespective of surgery received were significantly associated with treatment delays. Conclusions: IBR does not result in clinically significant delays to adjuvant therapy, but post-operative complications are associated with treatment delays. Strategies to minimise complications, including careful patient selection, are required to improve outcomes for patients