Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes

Objective  ACTH resistance is a feature of several human syndromes with known genetic causes, including familial glucocorticoid deficiency (types 1 and 2) and triple A syndrome. However, many patients with ACTH resistance lack an identifiable genetic aetiology. The human homolog of the Acd gene, mutated in a mouse model of adrenal insufficiency, was sequenced in 25 patients with a clinical diagnosis of familial glucocorticoid deficiency or triple A syndrome. Design  A 3·4 kilobase genomic fragment containing the entire ACD gene was analysed for mutations in all 25 patients. Setting  Samples were obtained by three investigators from different institutions. Patients  The primary cohort consisted of 25 unrelated patients, primarily of European or Middle Eastern descent, with a clinical diagnosis of either familial glucocorticoid deficiency (FGD) or triple A syndrome. Patients lacked mutations in other genes known to cause ACTH resistance, including AAAS for patients diagnosed with triple A syndrome and MC2R and MRAP for patients diagnosed with familial glucocorticoid deficiency. Thirty-five additional patients with adrenal disease phenotypes were added to form an expanded cohort of 60 patients. Measurements  Identification of DNA sequence changes in the ACD gene in the primary cohort and analysis of putative ACD haplotypes in the expanded cohort. Results  No disease-causing mutations were found, but several novel single nucleotide polymorphisms (SNPs) and two putative haplotypes were identified. The overall frequency of SNPs in ACD is low compared to other gene families. Conclusions  No mutations were identified in ACD in this collection of patients with ACTH resistance phenotypes. However, the newly identified SNPs in ACD should be more closely examined for possible links to disease.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/73948/1/j.1365-2265.2007.02855.x.pd

Dye molecules in electrolytes: new approach for suppression of dye-desorption in dye-sensitized solar cells

The widespread commercialization of dye-sensitized solar cells remains limited because of the poor long-term stability. We report on the influence of dye-molecules added in liquid electrolyte on long-term stability of dye-sensitized solar cells. Dye-desorption from the TiO2 surface during long-term cycling is one of the decisive factors that degrade photocurrent densities of devices which in turn determine the efficiencies of the devices. For the first time, desorption of dye from the TiO2 surface could be suppressed by controlling thermodynamic equilibrium; by addition of dye molecules in the electrolyte. The dye molecules in the electrolyte can suppress the driving forces for the adsorbed dye molecules to be desorbed from TiO2 nanoparticles. As a result, highly enhanced device stabilities were achieved due to the reduction of dye-desorption although there was a little decrease in the initial efficiencies.open4

Aggregating Centrality Rankings: A Novel Approach to Detect Critical Infrastructure Vulnerabilities

Assessing critical infrastructure vulnerabilities is paramount to arrange efficient plans for their protection. Critical infrastructures are network-based systems hence, they are composed of nodes and edges. The literature shows that node criticality, which is the focus of this paper, can be addressed from different metric-based perspectives (e.g., degree, maximal flow, shortest path). However, each metric provides a specific insight while neglecting others. This paper attempts to overcome this pitfall through a methodology based on ranking aggregation. Specifically, we consider several numerical topological descriptors of the nodes’ importance (e.g., degree, betweenness, closeness, etc.) and we convert such descriptors into ratio matrices; then, we extend the Analytic Hierarchy Process problem to the case of multiple ratio matrices and we resort to a Logarithmic Least Squares formulation to identify an aggregated metric that represents a good tradeoff among the different topological descriptors. The procedure is validated considering the Central London Tube network as a case study

Effector diversification within compartments of the Leptosphaeria maculans genome affected by Repeat-Induced Point mutations

Fungi are of primary ecological, biotechnological and economic importance. Many fundamental biological processes that are shared by animals and fungi are studied in fungi due to their experimental tractability. Many fungi are pathogens or mutualists and are model systems to analyse effector genes and their mechanisms of diversification. In this study, we report the genome sequence of the phytopathogenic ascomycete Leptosphaeria maculans and characterize its repertoire of protein effectors. The L. maculans genome has an unusual bipartite structure with alternating distinct guanine and cytosine-equilibrated and adenine and thymine (AT)-rich blocks of homogenous nucleotide composition. The AT-rich blocks comprise one-third of the genome and contain effector genes and families of transposable elements, both of which are affected by repeat-induced point mutation, a fungal-specific genome defence mechanism. This genomic environment for effectors promotes rapid sequence diversification and underpins the evolutionary potential of the fungus to adapt rapidly to novel host-derived constraints

Influence of electrolyte co-additives on the performance of dye-sensitized solar cells

The presence of specific chemical additives in the redox electrolyte results in an efficient increase of the photovoltaic performance of dye-sensitized solar cells (DSCs). The most effective additives are 4-tert-butylpyridine (TBP), N-methylbenzimidazole (NMBI) and guanidinium thiocyanate (GuNCS) that are adsorbed onto the photoelectrode/electrolyte interface, thus shifting the semiconductor's conduction band edge and preventing recombination with triiodides. In a comparative work, we investigated in detail the action of TBP and NMBI additives in ionic liquid-based redox electrolytes with varying iodine concentrations, in order to extract the optimum additive/I2 ratio for each system. Different optimum additive/I2 ratios were determined for TBP and NMBI, despite the fact that both generally work in a similar way. Further addition of GuNCS in the optimized electrolytic media causes significant synergistic effects, the action of GuNCS being strongly influenced by the nature of the corresponding co-additive. Under the best operation conditions, power conversion efficiencies as high as 8% were obtained

Clinical and echocardiographic predictors of mortality in acute pulmonary embolism

Purpose: The aim of this study was to evaluate the utility of adding quantitative assessments of cardiac function from echocardiography to clinical factors in predicting the outcome of patients with acute pulmonary embolism (PE). Methods: Patients with a diagnosis of acute PE, based on a positive ventilation perfusion scan or computed tomography (CT) chest angiogram, were identified using the Duke University Hospital Database. Of these, 69 had echocardiograms within 24–48 h of the diagnosis that were suitable for offline analysis. Clinical features that were analyzed included age, gender, body mass index, vital signs and comorbidities. Echocardiographic parameters that were analyzed included left ventricular (LV) ejection fraction (EF), regional, free wall and global RV speckle-tracking strain, RV fraction area change (RVFAC), Tricuspid Annular Plane Systolic Excursion (TAPSE), pulmonary artery acceleration time (PAAT) and RV myocardial performance (Tei) index. Univariable and multivariable regression statistical analysis models were used. Results: Out of 69 patients with acute PE, the median age was 55 and 48 % were female. The median body mass 2 index (BMI) was 27 kg/m . Twenty-nine percent of the cohort had a history of cancer, with a significant increase in cancer prevalence in non-survivors (57 % vs 29 %, p = 0.02). Clinical parameters including heart rate, respiratory rate, troponin T level, active malignancy, hypertension and COPD were higher among non-survivors when compared to survivors (p ≤ 0.05). Using univariable analysis, NYHA class III symptoms, hypoxemia on presentation, tachycardia, tachypnea, elevation in Troponin T, absence of hypertension, active malignancy and chronic obstructive pulmonary disease (COPD) were increased in non-survivors compared to survivors (p ≤ 0.05). In multivariable models, RV Tei Index, global and free (lateral) wall RVLS were found to be negatively associated with survival probability after adjusting for age, gender and systolic blood pressure (p ≤ 0.05). Conclusion: The addition of echocardiographic assessment of RV function to clinical parameters improved the prediction of outcomes for patients with acute PE. Larger studies are needed to validate these findings

Interventions to improve work outcomes in work-related PTSD: a systematic review

<p>Abstract</p> <p>Background</p> <p>Posttraumatic stress disorder acquired at work can be debilitating both for workers and their employers. The disorder can result in increased sick leave, reduced productivity, and even unemployment. Furthermore, workers are especially unlikely to return to their previous place of employment after a traumatic incident at work because of the traumatic memories and symptoms of avoidance that typically accompany the disorder. Therefore, intervening in work-related PTSD becomes especially important in order to get workers back to the workplace.</p> <p>Methods</p> <p>A systematic literature search was conducted using Medline, PsycINFO, Embase, and Web of Science. The articles were independently screened based on inclusion and exclusion criteria, followed by a quality assessment of all included articles.</p> <p>Results</p> <p>The systematic search identified seven articles for inclusion in the review. These consisted of six research articles and one systematic review. The review focused specifically on interventions using real exposure techniques for anxiety disorders in the workplace. In the research articles addressed in the current review, study populations included police officers, public transportation workers, and employees injured at work. The studies examined the effectiveness of EMDR, cognitive-behavioural techniques, and an integrative therapy approach called brief eclectic psychotherapy. Interestingly, 2 of the 6 research articles addressed add-on treatments for workplace PTSD, which were designed to treat workers with PTSD who failed to respond to traditional evidence-based psychotherapy.</p> <p>Conclusions</p> <p>Results of the current review suggest that work-related interventions show promise as effective strategies for promoting return to work in employees who acquired PTSD in the workplace. Further research is needed in this area to determine how different occupational groups with specific types of traumatic exposure might respond differently to work-tailored treatments.</p

Herbaceous plants in the understory of a pitch canker-affected Pinus radiata plantation are endophytically infected with Fusarium circinatum

[EN] Fusarium circinatum was recently detected as an endophyte in grasses causing no apparent damage. Our goal was to describe the endophytic colonization of herbaceous host plants growing in a plantation of Pinus radiata with symptoms of pitch canker disease, which may act as a reservoir of inoculum. We detected the fungus in five species of dicot families (Asteraceae, Lamiaceae, Rosaceae), in addition to two species in the Poaceae. The fungus was found in the aerial part of non-symptomatic hosts, so we describe E circinatum as an endophyte that is mainly transmitted by spores through the air. It was also detected in Hypochaeris radicata seeds, suggesting the potential occurrence of vertical transmission. An analysis of microsatellite markers showed a unique haplotype regardless of whether the isolates' origin was pine cankers or non-symptomatic herbaceous plants. Thus, the same genotype can adopt a pathogenic or endophytic lifestyle. We conclude that non -symptomatic plants can act as reservoirs of inoculum: pine seedlings can be infeded from senescent tissue of non-symptomatic hosts colonized by the fungus. (C) 2017 Elsevier Ltd and British Mycological Society. All rights reserved.We acknowledge Maite Morales Clemente for her excellent technical assistance and Inigo Zabalgogeazcoa for his helpful suggestions. Laura Hernandez was supported by a fellowship from INIA (FPI-INIA). Financial support for this research was provided by projects RTA2012-00015-C02-01 and RTA2013-00048-C03-01 (Programa Estatal I + D + i, INIA, Spain).Hernandez-Escribano, L.; Iturritxa, E.; Elvira-Recuenco, M.; Berbegal Martinez, M.; Campos, J.; Renobales, G.; García, I.... (2018). Herbaceous plants in the understory of a pitch canker-affected Pinus radiata plantation are endophytically infected with Fusarium circinatum. Fungal Ecology. 32:65-71. https://doi.org/10.1016/j.funeco.2017.12.001S65713