Career-computer simulation increases perceived importance of learning about rare diseases

Background: Rare diseases may be defined as occurring in less than 1 in 2000 patients. Such conditions are, however, so numerous that up to 5.9% of the population is afflicted by a rare disease. The gambling industry attests that few people have native skill evaluating probabilities. We believe that both students and academics, under-estimate the likelihood of encountering rare diseases. This combines with pressure on curriculum time, to reduce both student interest in studying rare diseases, and academic content preparing students for clinical practice. Underestimation of rare diseases, may also contribute to unhelpful blindness to considering such conditions in the clinic. Methods: We first developed a computer simulation, modelling the number of cases of increasingly rare conditions encountered by a cohort of clinicians. The simulation captured results for each year of practice, and for each clinician throughout the entirety of their careers. Four hundred sixty-two theoretical conditions were considered, with prevalence ranging from 1 per million people through to 64.1% of the population. We then delivered a class with two in-class on-line surveys evaluating student perception of the importance of learning about rare diseases, one before and the other after an in-class real-time computer simulation. Key simulation variables were drawn from the student group, to help students project themselves into the simulation. Results: The in-class computer simulation revealed that all graduating clinicians from that class would frequently encounter rare conditions. Comparison of results of the in-class survey conducted before and after the computer simulation, revealed a significant increase in the perceived importance of learning about rare diseases (p < 0.005). Conclusions: The computer career simulation appeared to affect student perception. Because the computer simulation demonstrated clinicians frequently encounter patients with rare diseases, we further suggest this should be considered by academics during curriculum review and design

Bacterial biofilm formation on indwelling urethral catheters

Urethral catheters are the most commonly deployed medical devices and used to manage a wide range of conditions in both hospital and community care settings. The use of long-term catheterization, where the catheter remains in place for a period &gt;28 days remains common, and the care of these patients is often undermined by the acquisition of infections and formation of biofilms on catheter surfaces. Particular problems arise from colonization with urease-producing species such as Proteus mirabilis, which form unusual crystalline biofilms that encrust catheter surfaces and block urine flow. Encrustation and blockage often lead to a range of serious clinical complications and emergency hospital referrals in long-term catheterized patients. Here we review current understanding of bacterial biofilm formation on urethral catheters, with a focus on crystalline biofilm formation by P. mirabilis, as well as approaches that may be used to control biofilm formation on these devices. Significance and Impact of the Study: Urinary catheters are the most commonly used medical devices in many healthcare systems, but their use predisposes to infection and provide ideal conditions for bacterial biofilm formation. Patients managed by long-term urethral catheterization are particularly vulnerable to biofilm-related infections, with crystalline biofilm formation by urease producing species frequently leading to catheter blockage and other serious clinical complications. This review considers current knowledge regarding biofilm formation on urethral catheters, and possible strategies for their control.</p

Innovative Strategy For Long Term Monitoring Of Metal And Radionuclide Plumes

Many government and private industry sites that were once contaminated with radioactive and chemical wastes cannot be cleaned up enough to permit unrestricted human access. The sites will require long term management, in some cases indefinitely, leaving site owners with the challenge of protecting human health and environmental quality at these "legacy" sites. Long-term monitoring of groundwater contamination is one of the largest projected costs in the life cycle of environmental management at the Savannah River Site, the larger DOE complex, and many large federal and private sites. There is a need to optimize the performance and manage the cost of long term surveillance and monitoring at their sites. Currently, SRNL is initiating a pilot field test using alternative protocols for long term monitoring of metals and radionuclides. A key component of the approach is that monitoring efforts are focused on measurement of low cost metrics related to hydrologic and chemical conditions that control contaminant migration. The strategy combines careful monitoring of hydrologic boundary conditions with measurement of master variables such as chemical surrogates along with a smaller number of standard well analyses. In plumes contaminated with metals, master variables control the chemistry of the groundwater system, and include redox variables (ORP, DO, chemicals), pH, specific conductivity, biological community (breakdown/decay products), and temperature. Significant changes in these variables will result in conditions whereby the plume may not be stable and therefore can be used to predict possible plume migration. Conversely, concentration measurements for all types of contaminants in groundwater are a lagging indicator plume movement - major changes contaminant concentrations indicate that contamination has migrated. An approach based on measurement of master variables and explicit monitoring of hydrologic boundary conditions combined with traditional metrics should lead to improved monitoring while simultaneously reducing costs. This paradigm is being tested at the SRS F-Area where an innovative passive remedial system is being monitored and evaluated over the long term prior to traditional regulatory closure. Contaminants being addressed at this site are uranium, strontium-90, iodine-129, and tritium. We believe that the proposed strategies will be more effective in early identification of potential risks; these strategies will also be cost effective because controlling variables are relatively simple to measure. These variables also directly reflect the evolution of the plume through time, so that the monitoring strategy can be modified as the plume 'ages'. This transformational long-term monitoring paradigm will generate large cost savings to DOE, other federal agencies and industry and will provide improved performance and leading indicators of environmental management performance

Evapotranspiration And Geochemical Controls On Groundwater Plumes At Arid Sites: Toward Innovative Alternate End-States For Uranium Processing And Tailings Facilities

Management of legacy tailings/waste and groundwater contamination are ongoing at the former uranium milling site in Tuba City AZ. The tailings have been consolidated and effectively isolated using an engineered cover system. For the existing groundwater plume, a system of recovery wells extracts contaminated groundwater for treatment using an advanced distillation process. The ten years of pump and treat (P&T) operations have had minimal impact on the contaminant plume – primarily due to geochemical and hydrological limits. A flow net analysis demonstrates that groundwater contamination beneath the former processing site flows in the uppermost portion of the aquifer and exits the groundwater as the plume transits into and beneath a lower terrace in the landscape. The evaluation indicates that contaminated water will not reach Moenkopi Wash, a locally important stream. Instead, shallow groundwater in arid settings such as Tuba City is transferred into the vadose zone and atmosphere via evaporation, transpiration and diffuse seepage. The dissolved constituents are projected to precipitate and accumulate as minerals such as calcite and gypsum in the deep vadose zone (near the capillary fringe), around the roots of phreatophyte plants, and near seeps. The natural hydrologic and geochemical controls common in arid environments such as Tuba City work together to limit the size of the groundwater plume, to naturally attenuate and detoxify groundwater contaminants, and to reduce risks to humans, livestock and the environment. The technical evaluation supports an alternative beneficial reuse (“brownfield”) scenario for Tuba City. This alternative approach would have low risks, similar to the current P&T scenario, but would eliminate the energy and expense associated with the active treatment and convert the former uranium processing site into a resource for future employment of local citizens and ongoing benefit to the Native American Nations

Evaluación del lenguaje oral en niños y niñas con hipoacusia: Los tests estandarizados y la edad auditiva

Muchos niños y niñas con hipoacusia que usan lenguaje oral (NHA) tienen un desarrollo lingüístico inferior al de los niños con desarrollo típico. Para estimular su desarrollo es crucial evaluar sus habilidades lingüísticas. Los test estandarizados, si bien son útiles para medir diferencias entre el nivel de desarrollo lingüístico de NHA y el desarrollo típico esperado para su edad, pueden mostrar un efecto piso en NHA debido al desfase entre su experiencia auditiva y su edad. El objetivo de este trabajo fue analizar si los puntajes estándar calculados con la edad auditiva en lugar de la edad cronológica brindan información más precisa sobre las habilidades lingüísticas de NHA. Se evaluó a 56 NHA hablantes de español con el test de vocabulario receptivo Peabody. El efecto piso fue significativamente menos frecuente en los puntajes estándar calculados con edad auditiva. Se observó además una diferencia significativa entre la edad cronológica y la edad equivalente (i.e., la edad a la que corresponde su nivel de vocabulario), con una diferencia media mayor a tres años, pero no entre la edad equivalente y la edad auditiva. Estos resultados sugieren que examinar los puntajes estándar calculados con la edad auditiva puede dar información más precisa del desarrollo lingüístico de los NHA que los puntajes estándar calculados con la edad cronológica y, por ende, puede ser un buen complemento en la evaluación. Además, señalan la ventaja de contar con test que provean baremos del nivel de los niños en determinada habilidad, independientemente de su edad cronológica.Este artículo se encuentra publicado en Revista Signos, 55(110), 928-947

Around the tangent cone theorem

A cornerstone of the theory of cohomology jump loci is the Tangent Cone theorem, which relates the behavior around the origin of the characteristic and resonance varieties of a space. We revisit this theorem, in both the algebraic setting provided by cdga models, and in the topological setting provided by fundamental groups and cohomology rings. The general theory is illustrated with several classes of examples from geometry and topology: smooth quasi-projective varieties, complex hyperplane arrangements and their Milnor fibers, configuration spaces, and elliptic arrangements.Comment: 39 pages; to appear in the proceedings of the Configurations Spaces Conference (Cortona 2014), Springer INdAM serie

Transcultural adaptation of the Emotion Matching Task: an emotion neuropsychological assessment

Emotions play a central role in children’s relationships. Deficits in emotional understanding have been associated with several neuropsychiatric disorders. In Brazil, however, few psychological instruments are available to assess young children’s emotional development. The objective of the present study was to make a transcultural adaptation of the Emotion Matching Task (EMT). The EMT was translated and adapted by a team of bilingual researches and then back-translated to English. The preliminary versions were assessed by EMT’s authors and by Brazilians specialized judges. The final version was applied in a sample of 50 children between three and six years of age and answered by nine judges in three Brazilian states. The results indicate good semantic equivalence and good agreement with the answers provided (κ= 0.88, Z=95.2, p<0.001). The final version of the EMT was considered appropriate and satisfactory

Beyond the Bayley: Neurocognitive Assessments of Development During Infancy and Toddlerhood

The use of global, standardized instruments is conventional among clinicians and researchers interested in assessing neurocognitive development. Exclusively relying on these tests for evaluating effects may underestimate or miss specific effects on early cognition. The goal of this review is to identify alternative measures for possible inclusion in future clinical trials and interventions evaluating early neurocognitive development. The domains included for consideration are attention, memory, executive function, language and socio-emotional development. Although domain-based tests are limited, as psychometric properties have not yet been well-established, this review includes tasks and paradigms that have been reliably used across various developmental psychology laboratories

Assessing newborn body composition using principal components analysis: differences in the determinants of fat and skeletal size

BACKGROUND: Birth weight is a composite of skeletal size and soft tissue. These components are likely to have different growth patterns. The aim of this paper is to investigate the association between established determinants of birth weight and these separate components. METHODS: Weight, length, crown-rump, knee-heel, head circumference, arm circumference, and skinfold thicknesses were measured at birth in 699 healthy, term, UK babies recruited as part of the Exeter Family Study of Childhood Health. Corresponding measurements were taken on both parents. Principal components analysis with varimax rotation was used to reduce these measurements to two independent components each for mother, father and baby: one highly correlated with measures of fat, the other with skeletal size. RESULTS: Gestational age was significantly related to skeletal size, in both boys and girls (r = 0.41 and 0.52), but not fat. Skeletal size at birth was also associated with parental skeletal size (maternal: r = 0.24 (boys), r = 0.39 (girls) ; paternal: r = 0.16 (boys), r = 0.25 (girls)), and maternal smoking (0.4 SD reduction in boys, 0.6 SD reduction in girls). Fat was associated with parity (first borns smaller by 0.45 SD in boys; 0.31 SD in girls), maternal glucose (r = 0.18 (boys); r = 0.27 (girls)) and maternal fat (r = 0.16 (boys); r = 0.36 (girls)). CONCLUSION: Principal components analysis with varimax rotation provides a useful method for reducing birth weight to two more meaningful components: skeletal size and fat. These components have different associations with known determinants of birth weight, suggesting fat and skeletal size may have different regulatory mechanisms, which would be important to consider when studying the associations of birth weight with later adult disease