bluuebunny/crossref_metadata_2025 huggingface dataset:
Identification of inner membrane translocase components of TolC‐mediated secretion in the cyanobacterium Synechocystis sp. PCC 6803
Authors: Gonçalves Cátia F. , Pacheco Catarina C. , Tamagnini Paula , Oliveira Paulo
Published: March 2018

Cyanobacteria were the first organisms ever to perform oxygenic photosynthesis and still significantly contribute to primary production on a global scale. To assure the proper functioning of their primary metabolism and cell homeostasis, cyanobacteria must rely on efficient transport systems to cross their multilayered cell envelope. However, cyanobacterial secretion mechanisms remain largely unknown. Here, we report on the identification of 11 putative inner membrane translocase components of TolC‐mediated secretion in the unicellular cyanobacterium Synechocystis sp. PCC 6803. Gene‐inactivation of each of the candidate genes followed by a comprehensive phenotypic characterization allowed to link specific protein components to the processes of protein export (as part of the type I secretion system) and drug efflux (part of the resistance‐division‐nodulation efflux pumps). In addition, mutants in genes sll0141, sll0180 and slr0369 exhibited alterations in pilin glycosylation, but pili structures could still be observed by transmission electron microscopy. By studying the release of outer membrane vesicles (OMVs), an alternative secretion route, on mutants with impaired secretory functions we suggest that the hyper‐vesiculating phenotype of the TolC‐deficient mutant is related to cell envelope stress management. Altogether, these findings highlight how both classical (TolC‐mediated) and nonclassical (OMVs‐mediated) secretion systems are crucial for cyanobacterial cell homeostasis.
The three stages of the anti‐incumbency vote: Retrospective economic voting in young and established democracies
Authors: BOCHSLER DANIEL , HÄNNI MIRIAM
Published: March 2018

Economic prosperity is the best recipe for an incumbent government to be re‐elected. However, the financial crisis was significantly more consequential for governing parties in young rather than in established democracies. This article introduces the age of democracy as a contextual explanation which moderates the degree to which citizens vote retrospectively. It shows a curvilinear effect of the age of democracy on retrospective economic voting. In a first stage after the transition to democracy, reform governments suffer from a general anti‐incumbency effect, unrelated to economic performance. In a second step, citizens in young democracies relate the legitimacy of democratic actors to their economic performance rather than to procedural rules, and connect economic outcomes closely to incumbent support. As democracies mature, actors profit from a reservoir of legitimacy, and retrospective voting declines. Empirically, these hypotheses are corroborated by data on vote change and economic performance in 59 democracies worldwide, over 25 years.
Fair treatment, fair play? The relationship between fair treatment perceptions, political trust and compliant and cooperative attitudes cross‐nationally
Authors: MARIEN SOFIE , WERNER HANNAH
Published: March 2018

Obtaining citizens’ voluntary compliance with political decisions is a fundamental democratic challenge. Fair treatment by public officials plays a key role in theoretical and empirical studies on citizens’ compliance and cooperation. Yet it is unclear whether citizens within different societies react to (un)fair treatment in the same way. Using multilevel structural equation modelling and multilevel regression analysis on the European Social Survey 2010–2 (N = 52,458), this article shows that perceptions of fair treatment by police officers are associated with higher levels of trust in political institutions and in turn stronger compliant and cooperative attitudes of citizens in 27 countries. Yet the link between perceptions of unfair treatment and institutional trust is stronger in countries in which fair behaviour is more prevalent. While fair treatment is often considered to be a universal norm affecting citizens in a uniform way, this article sheds light on important cross‐national variations.
Patient Acceptance of Sexual Orientation and Gender Identity Questions on Intake Forms in Outpatient Clinics: A Pragmatic Randomized Multisite Trial
Authors: Rullo Jordan E. , Foxen Jilian L. , Griffin Joan M. , Geske Jennifer R. , Gonzalez Cesar A. , Faubion Stephanie S. , van Ryn Michelle
Published: March 2018

Objectives

To (1) test whether patient attitudes toward intake forms at three Midwestern outpatient clinics are significantly more negative among those who are asked to complete SOGI questions versus those who are not; and (2) gain an in‐depth understanding of patient concerns about SOGI questions.

Study Setting

Data were collected between 6/29/2015 and 2/29/2016 from new patients (N = 491) who presented at three outpatient clinics in a large academic medical center. This study was originally a quality improvement project, and later, institutional review board approval was obtained for secondary data analysis.

Study Design

Two‐stage mixed‐methods study. (1) Experimental: New patients at three sites were randomly assigned to complete either routine intake forms (control) or routine intake forms with SOGI questions (experimental); and (2) qualitative: interviews with patients who responded negatively to SOGI questions.

Principal Findings

There were no significant differences in patient attitudes between experimental and control groups (p > .05). Of those who received SOGI questions, only 3 percent reported being distressed, upset, or offended by the SOGI questions.

Conclusions

Collection of SOGI data as a part of the routine clinical patient intake process is not distressing to 97 percent of patients who are heterosexual, cisgender, and older than 50 years.
Extending financial literacy to insurance literacy: a survey approach
Authors: Lin Xi , Bruhn Aaron , William Jananie
Published: March 2018

We extend behavioural research in investment and retirement savings to insurance, by investigating factors that may influence individuals’ insurance decision making. These factors include financial literacy, specialist insurance education and some behavioural biases. Based on a definition of insurance literacy that requires both having, and applying insurance knowledge, we find from a survey of postgraduate students that financial literacy does not necessarily translate to insurance literacy, whereas more specialised education can improve insurance literacy. Results also indicate specialist education potentially reduces susceptibility to anchoring effects.
Modelling the responses of Australian subtropical rainforest birds to changes in environmental conditions along elevational gradients
Authors: Leach Elliot C. , Burwell Chris J. , Jones Darryl N. , Kitching Roger L.
Published: March 2018

Montane birds face significant threats from a warming climate, so determining the environmental factors that most strongly influence the composition of such assemblages is of critical conservation importance. Changes in temperature and other environmental conditions along elevational gradients are known to influence the species richness and abundance of bird assemblages occupying mountains. However, the role of species‐specific traits in mediating the responses of bird species to changing conditions remains poorly understood. We aimed to determine whether different bird species responded differently to changing environmental conditions in a relatively understudied biodiversity hotspot in subtropical rainforest on the east coast of Australia. We examined patterns in avian species richness and abundance along two rainforest elevational gradients using monthly point counts between September 2015 and October 2016. Environmental data on temperature, wetness, canopy cover and canopy height were collected simultaneously, and trait information on body size and feeding guild membership for each bird species was obtained from the Handbook of Australian, New Zealand and Antarctic Birds. We used a generalized linear mixed modelling (GLMM) framework to determine the drivers of species richness and abundance and to quantify species’ trait–environment interactions.GLMMs indicated that temperature alone was significantly positively correlated with species richness and abundance. Species richness declined with increasing elevation. When modelling abundance, we found that feeding guild membership did not significantly affect species’ responses to environmental conditions. In contrast, the predicted abundance of a species was found to depend on its body size, due to significant positive interactions between this trait, temperature and canopy cover. Our findings indicate that large‐bodied birds are likely to increase in abundance more rapidly than small‐bodied birds with continued climatic warming. These results underline the importance of temperature as a driving factor of avian community assembly along environmental gradients.
Few mitochondrial DNA sequences are inserted into the turkey (Meleagris gallopavo) nuclear genome: evolutionary analyses and informativity in the domestic lineage
Authors: Schiavo G. , Strillacci M. G. , Ribani A. , Bovo S. , Roman‐Ponce S. I. , Cerolini S. , Bertolini F. , Bagnato A. , Fontanesi L.
Published: March 2018

Mitochondrial DNA (mtDNA) insertions have been detected in the nuclear genome of many eukaryotes. These sequences are pseudogenes originated by horizontal transfer of mtDNA fragments into the nuclear genome, producing nuclear DNA sequences of mitochondrial origin (numt). In this study we determined the frequency and distribution of mtDNA‐originated pseudogenes in the turkey (Meleagris gallopavo) nuclear genome. The turkey reference genome (Turkey_2.01) was aligned with the reference linearized mtDNA sequence using last. A total of 32 numt sequences (corresponding to 18 numt regions derived by unique insertional events) were identified in the turkey nuclear genome (size ranging from 66 to 1415 bp; identity against the modern turkey mtDNA corresponding region ranging from 62% to 100%). Numts were distributed in nine chromosomes and in one scaffold. They derived from parts of 10 mtDNA protein‐coding genes, ribosomal genes, the control region and 10 tRNA genes. Seven numt regions reported in the turkey genome were identified in orthologues positions in the Gallus gallus genome and therefore were present in the ancestral genome that in the Cretaceous originated the lineages of the modern crown Galliformes. Five recently integrated turkey numts were validated by PCR in 168 turkeys of six different domestic populations. None of the analysed numts were polymorphic (i.e. absence of the inserted sequence, as reported in numts of recent integration in other species), suggesting that the reticulate speciation model is not useful for explaining the origin of the domesticated turkey lineage.
Spatial dependency and technical efficiency: an application of a Bayesian stochastic frontier model to irrigated and rainfed rice farmers in Bohol, Philippines
Authors: Pede Valerien O. , Areal Francisco J. , Singbo Alphonse , McKinley Justin , Kajisa Kei
Published: March 2018

We investigated the role of spatial dependency in the technical efficiency estimates of rice farmers using panel data from the Central Visayan island of Bohol in the Philippines. Household‐level data were collected from irrigated and rainfed agro‐ecosystems. In each ecosystem, the geographical information on residential and farm‐plot neighborhood structures was recorded to compare household‐level spatial dependency among four types of neighborhoods. A Bayesian stochastic frontier approach that integrates spatial dependency was used to address the effects of neighborhood structures on farmers’ performance. Incorporating the spatial dimension into the neighborhood structures allowed for identification of the relationships between spatial dependency and technical efficiency through comparison with nonspatial models. The neighborhood structure at the residence and plot levels were defined with a spatial weight matrix where cut‐off distances ranged from 100 to 1,000 m. We found that spatial dependency exists at the residential and plot levels and is stronger for irrigated farms than rainfed farms. We also found that technical inefficiency levels decrease as spatial effects are more taken into account. Because the spatial effects increase with a shorter network distance, the decreasing technical inefficiency implies that the unobserved inefficiencies can be explained better by considering small networks of relatively close farmers over large networks of distant farmers.
Implications of the global growth slowdown for rural poverty
Authors: Laborde Debucquet David , Martin Will
Published: March 2018

Over the past 25 years, higher growth in developing countries has contributed to a dramatic fall in global poverty, although poverty rates in rural areas remain higher than in urban areas. Unfortunately, projected growth rates have fallen in recent years; this article examines the impact of this slowdown on the poor, particularly the rural poor. It first uses a global model to assess the impacts of lower productivity on key price and income variables. It then uses microsimulation models for almost 300,000 households to assess the impacts on their real incomes. Although poverty rates overall are projected to fall substantially, the poorest countries see the greatest slowdown in poverty reduction, with over 5% of their population projected to remain below the poverty line. In addition, poverty rates will remain alarmingly high in many countries. Overall, 38 million fewer people will leave extreme poverty compared to earlier projections. Farm households are at particular risk in middle‐income countries, with over 1.5% more of the farming population remaining trapped in poverty than previously estimated. By 2030, average extreme poverty in rural areas is projected at about 7.5%, rather than 7.1% under the earlier growth projections. Clearly, a strong focus on policies for poverty reduction will be vital for eliminating poverty by 2030.
Electrocardiogram failure in the operating room – bench testing to prevent bed‐side disaster
Authors: Cowie B. , Baker L. , Shoghi B. , Worner M. , Scott D.
Published: March 2018

Electrocardiogram (ECG) false alarms are common in electrically‐hostile peri‐operative environments. Newer integrated monitoring, with sophisticated hardware and software, has the potential to minimise artefacts. However, monitoring issues continue to occur, with the potential for critical incidents and unnecessary and harmful interventions. We describe the root cause analysis of a series of apparent ECG flatline asystolic events that appeared in the operating room shortly after the introduction of new intra‐operative monitoring systems. Clinical events and biomedical laboratory testing revealed complete loss of ECG signal with increasing resistance. The new ECG systems had incorporated both software and hardware changes to improve the fidelity of signal acquisition and display, but had become much more sensitive to impedance changes. After we alerted the manufacturer, they added software and hardware updates that resulted in resolution of all incidents of ECG loss‐of‐signal.
Adrenaline and cortisol levels are lower during nighttime than daytime hypoglycaemia in children with type 1 diabetes
Authors: Fredheim S , Foli‐Andersen P , Lærkholm G , Svensson J , Juhl CB , Olsen B , Pilgaard K , Johannesen J
Published: March 2018

Aim

We investigated children's counter regulatory hormone profiles during a hyperinsulinaemic hypoglycaemic clamp procedure at day and night.

Methods

In 2013, we assessed the counter regulatory response to hypoglycaemia in eight outpatients with type 1 diabetes, recruited from the Herlev Hospital, Denmark, at a mean age of 9.6 ± 2.3 years. Hyperinsulinaemic 80 mU/m2/min clamps were performed with a stepwise reduction in plasma glucose from euglycaemia (7–9 mmol/L) to hypoglycaemia (<3.5 mmol/L) and the glucose nadir (≤2.2 mmol/L) during the day and night. Adrenaline, cortisol, glucagon and growth hormone levels were assessed.

Results

Adrenaline and growth hormone levels were higher during the day versus the night (p = 0.04 and p = 0.01, respectively). However, at the glucose nadir, the level of adrenaline was lower during the night than the day (0.6 ± 0.2 versus 1.9 ± 0.5 nmol/L, p = 0.016) and cortisol was lower during the day than the night (42 ± 15 versus 319 ± 81 nmol/L, p = 0.016). No differences were demonstrated for glucagon and growth hormone levels based on the same criteria.

Conclusion

The adrenaline response was blunted during nocturnal iatrogenic hypoglycaemia in our study cohort, and no increase in cortisol levels was demonstrated.
Pityriasis rosea‐like eruption associated with ondansetron use in pregnancy
Authors: Alame Malak M. , Chamsy Dina J. , Zaraket Hassan
Published: March 2018

A 30‐year‐old pregnant female presented with a 2‐week history of pityriasis rosea‐like eruption. The rash started 2 days after the patient had started taking ondansetron 8 mg for alleviation of moderate‐to‐severe nausea and vomiting of pregnancy. Physical examination revealed erythematous papulosquamous lesions characterized by annular scaly margins and a dusky centre over the arms, chest, abdomen, lower back and legs. The rash did not involve the palms, sole or mucous membranes, and no lesions were observed on the lymph nodes. Ondansetron was discontinued. The rash ceased to spread and started to disappear within 2 weeks with full resolution noted after 1 month. Analysis of the case using the Naranjo adverse drug reaction probability scale indicated that ondansetron was the probable cause of the pityriasis rosea‐like eruption. This is the first case report of pityriasis rosea related to ondansetron therapy.
Does patient reporting lead to earlier detection of drug safety signals? A retrospective comparison of time to reporting between patients and healthcare professionals in a global database
Authors: Rolfes Leàn , van Hunsel Florence , Caster Ola , Taavola Henric , Taxis Katja , van Puijenbroek Eugène
Published: March 2018

Aims

To explore if there is a difference between patients and healthcare professionals (HCPs) in time to reporting drug–adverse drug reaction (ADR) associations that led to drug safety signals.

Methods

This was a retrospective comparison of time to reporting selected drug–ADR associations which led to drug safety signals between patients and HCPs. ADR reports were selected from the World Health Organization Global database of individual case safety reports, VigiBase. Reports were selected based on drug–ADR associations of actual drug safety signals. Primary outcome was the difference in time to reporting between patients and HCPs. The date of the first report for each individual signal was used as time zero. The difference in time between the date of the reports and time zero was calculated. Statistical differences in timing were analysed on the corresponding survival curves using a Mann–Whitney U test.

Results

In total, 2822 reports were included, of which 52.7% were patient reports, with a median of 25% for all included signals. For all signals, median time to signal detection was 10.4 years. Overall, HCPs reported earlier than patients: median 7.0 vs. 8.3 years (P < 0.001).

Conclusions

Patients contributed a large proportion of reports on drug–ADR pairs that eventually became signals. HCPs reported 1.3 year earlier than patients. These findings strengthen the evidence on the value of patient reporting in signal detection and highlight an opportunity to encourage patients to report suspected ADRs even earlier in the future.
Predictive modelling of 2‐year potency outcomes using a novel 90‐day erection fullness scale after robot‐assisted radical prostatectomy
Authors: Huynh Linda M. , Osann Kathryn , Skarecky Douglas , Ahlering Thomas E.
Published: March 2018

Objective

To introduce a patient‐reported erection fullness scale (%fullness) after robot‐assisted radical prostatectomy (RARP) as a qualitative adjunct to the five‐item version of the International Index of Erectile Function (IIEF‐5) and as a 90‐day predictor of 2‐year potency outcomes.

Patients and Methods

Prospective data were collected from 540 men with preoperative IIEF‐5 scores of 22–25 who underwent RARP by a single surgeon, and of whom 299 had complete data at all time points up to 2 years. In addition to standard assessment tools (IIEF‐5 and erections sufficient for intercourse [ESI]), the men were asked to ‘indicate the fullness you are able to achieve in erections compared to before surgery?’ (range: 0–100%). The primary outcome was prediction of potency (defined as ESI) at 24 months, based on 90‐day %fullness tertile (0–24%, 25–74% and 75–100%).

Results

A total of 299 men with complete follow‐up were included in the study. Significant predictors of 24‐month potency included age, body mass index, pathological stage, nerve‐sparing status and %fullness tertiles. When the men (preoperative IIEF‐5 score 22–25) were assessed at 90 days after RARP, 181/299 (61%) had erections inadequate for intercourse. If IIEF‐5 scores of 1–6 were used, 142/181 men (78%) would be targeted for early intervention. By contrast, if 0–24% fullness was used, 88/181 men (49%) would be targeted. If both the IIEF‐5 score and %fullness were used, this would be reduced to 77/181 men (43%).

Conclusions

We introduce %fullness as a qualitative adjunct to the IIEF‐5 score, and separately as a 90‐day predictor of 2‐year potency recovery. This initial report is hypothesis‐generating, such that the use of %fullness enables the identification of men who are most likely to benefit from early, secondary intervention.
Fluorescence tumor imaging by i.v. administered indocyanine green in a mouse model of colitis‐associated colon cancer
Authors: Nagahara Rei , Onda Nobuhiko , Yamashita Susumu , Kojima Miho , Inohana Mari , Eguchi Ayumi , Nakamura Misato , Matsumoto Shinya , Yoshida Toshinori , Shibutani Makoto
Published: March 2018

Fluorescence tumor imaging using exogenous fluorescent tumor‐targeting agents has potential to improve early tumor detection. The fluorescent contrast agent indocyanine green (ICG) is used in medical diagnostics. The aim of the present study is to investigate the tumor imaging capability and the imaging mechanism of i.v. administered ICG in a mouse model of colitis‐associated colon cancer. To do this, an azoxymethane/dextran sodium sulfate‐induced colon cancer mouse model was used. Ex vivo imaging experiments were carried out 1 hour after i.v. injection of ICG. The ICG fluorescence was observed in the colon tumor tissues, with sufficient tumor to normal tissue ratio, correlating with tumor malignancy. In the tumor tissues, ICG fluorescence was localized in the vascular interstitial tissue. Immunofluorescence microscopy revealed that tumor cells formed tight junctions normally, suggesting an inability of tumor cellular uptake of ICG. In contrast, tumor tissues increased the CD31‐immunoreactive endothelial cell area, and accumulated stromal cells immunoreactive for COX‐2 and tumor cell population immunoreactive for inducible nitric oxide synthase. In vivo vascular permeability assay revealed that prostaglandin E2 promoted the endothelial cell permeability of ICG. In conclusion, our data indicated that fluorescence contrast‐enhanced imaging following i.v. administered ICG can be applied to the detection of colon tumors in a mouse colitis‐associated colon cancer model. The tumor tissue preference of ICG in the present model can be attributed to the enhanced vascular leakage of ICG involving inflammatory mediators, such as COX‐2 and inducible nitric oxide synthase, in conjunction with increased tumor vascularity.
Health‐related quality of life in patients with nonsurgical hypoparathyroidism and pseudohypoparathyroidism
Authors: Underbjerg L. , Sikjaer T. , Rejnmark L.
Published: March 2018

Objective

Nonsurgical hypoparathyroidism (NS‐HypoPT) and pseudohypoparathyroidism (PHP) are rare diseases, with a prevalence of 2/100.000 and 1/100.000, respectively. Only few studies on Quality of Life (QoL) among patients with Ns‐HypoPT and PHP are available. We aimed to investigate the QoL among patients with Ns‐HypoPT and PHP including information about education.

Design

A cohort study with patients identified from a previously epidemiological study.

Patients

Fifty seven patients with Ns‐HypoPT and 30 patients with PHP.

Measurements

The well‐validated questionnaires SF‐36v2 and WHO‐5 Well Being Index. Results compared to norm‐based material, disease‐specific norm‐based material and patients with postsurgical HypoPT

Results

SF36v2 showed a significantly reduced score in all eight subdomains in patients with NS‐HypoPT compared with a norm‐based population. PHP patients scored lower in five subdomains. Females were more affected than males. Compared with postsurgical HypoPT, Ns‐HypoPT and PHP are compatible at most domains. At the domains Physical Function, Social Function and Mental Health, Ns‐HypoPT and PHP patients scored significantly lower (Pall < .05). At the Mental Component Score, patients with Ns‐HypoPT had a lower score compared with postsurgical HypoPT (P < .01). The overall WHO‐5 Well Being Index score was comparable between groups (P = .45). No differences were seen comparing patients with postsurgical HypoPT and Ns‐HypoPT (P = .68) or postsurgical HypoPT and PHP (P = .67). A WHO‐5 score below 28 indicates depression (NS‐HypoPT=7; PHP=3, P = .71), whereas a score between 28‐50 suggesting poor emotional well‐being (NS‐HypoPT=19; PHP=5, P = .13). The remaining patients scored above 50 suggesting well‐being.

Conclusion

QoL is impaired equally among patients with Ns‐HypoPT and PHP.
Treatment escape reduces the effectiveness of cabergoline during long‐term treatment of acromegaly in monotherapy or in association with first‐generation somatostatin receptor ligands
Authors: Kasuki Leandro , Dalmolin Marilia Duarte , Wildemberg Luiz Eduardo , Gadelha Mônica R.
Published: March 2018

Background

Few studies evaluated the use of cabergoline (CAB) for acromegaly treatment in monotherapy or in combination with first‐generation somatostatin receptor ligands (SRLs).

Aim

To evaluate the efficacy, predictors of response and safety of CAB treatment in acromegaly both in monotherapy and in combination with SRLs.

Methods

We retrospectively collected demographic, biochemical, tumour and treatment data. Short‐term disease control was defined as random GH level < 1.0 μg/L and normal age‐matched IGF‐I level after 3‐6 months of treatment with the higher dose used. Long‐term disease control was defined as maintenance of normal GH and IGF‐I levels at the last visit (at least 9 months of treatment).

Results

Eighty‐two patients were studied. The median total time of treatment in monotherapy or in combination with SRLs was 14 months (3‐124) and 34 months (3‐88), respectively. Short‐term disease control was observed in 6 (21%) patients in the monotherapy group and in 20 (32%) in the combination group. Treatment escape was observed in 1 patient after 16 months of CAB monotherapy and in 6 (30%) patients with combination therapy (after a median of 38 months), resulting in long‐term disease control of 18% and 23%, respectively. Hyperprolactinemia was a predictor of response to monotherapy and pretreatment GH level to combination treatment.

Conclusion

We presented the results of the largest single‐centre study with CAB in monotherapy and in combination with SRL. The efficacy of CAB in acromegaly seems to be lower than that of other drugs, and treatment escape may occur after a long‐term follow‐up.
Evaluation of a patient with classical Ehlers‐Danlos syndrome due to a 9q34 duplication affecting COL5A1
Authors: Kuroda Yukiko , Ohashi Ikuko , Naruto Takuya , Ida Kazumi , Enomoto Yumi , Saito Toshiyuki , Nagai Jun‐ichi , Kurosawa Kenji
Published: March 2018

Ehlers‐Danlos syndrome classical type is a connective tissue disorder characterized by skin hyperextensibility, atrophic scarring, and joint hypermobility. The condition typically results from mutations in COL5A1 or COL5A2 leading to the functional haploinsufficiency. Here, we report of a 24‐year‐old male with mild intellectual disability, dysmorphic features, and a phenotype consistent with Ehlers‐Danlos syndrome classical type. A copy number variant‐calling algorithm from panel sequencing data identified the deletions exons 2–11 and duplications of exons 12–67 within COL5A1. Array comparative genomic hybridization confirmed a 94 kb deletion at 9q34.3 involving exons 2–11 of COL5A1, and a 3.4 Mb duplication at 9q34.3 involving exons 12–67 of COL5A1.
Kidney enlargement and multiple liver cyst formation implicate mutations in PKD1/2 in adult sporadic polycystic kidney disease
Authors: Fujimaru T. , Mori T. , Sekine A. , Mandai S. , Chiga M. , Kikuchi H. , Ando F. , Mori Y. , Nomura N. , Iimori S. , Naito S. , Okado T. , Rai T. , Hoshino J. , Ubara Y. , Uchida S. , Sohara E.
Published: March 2018

Distinguishing autosomal‐dominant polycystic kidney disease (ADPKD) from other inherited renal cystic diseases in patients with adult polycystic kidney disease and no family history is critical for correct treatment and appropriate genetic counseling. However, for patients with no family history, there are no definitive imaging findings that provide an unequivocal ADPKD diagnosis. We analyzed 53 adult polycystic kidney disease patients with no family history. Comprehensive genetic testing was performed using capture‐based next‐generation sequencing for 69 genes currently known to cause hereditary renal cystic diseases including ADPKD. Through our analysis, 32 patients had PKD1 or PKD2 mutations. Additionally, 3 patients with disease‐causing mutations in NPHP4, PKHD1, and OFD1 were diagnosed with an inherited renal cystic disease other than ADPKD. In patients with PKD1 or PKD2 mutations, the prevalence of polycystic liver disease, defined as more than 20 liver cysts, was significantly higher (71.9% vs 33.3%, P = .006), total kidney volume was significantly increased (median, 1580.7 mL vs 791.0 mL, P = .027) and mean arterial pressure was significantly higher (median, 98 mm Hg vs 91 mm Hg, P = .012). The genetic screening approach and clinical features described here are potentially beneficial for optimal management of adult sporadic polycystic kidney disease patients.
Effect of mesalazine on recurrence of diverticulitis in patients with symptomatic uncomplicated diverticular disease: a meta‐analysis with trial sequential analysis of randomized controlled trials
Authors: Khan R. M. A. , Ali B. , Hajibandeh S. , Hajibandeh S.
Published: March 2018

Aim

he aim was to investigate the effect of mesalazine on the recurrence of diverticulitis in patients with symptomatic uncomplicated diverticular disease (SUDD).

Methods

We performed a systematic review and conducted a search of electronic information sources to identify all randomized controlled trials (RCTs) investigating the effect of mesalazine on the recurrence of diverticulitis in patients with SUDD. We used the Cochrane tool to assess the quality of included studies. Random effects models were applied to calculate pooled outcome data. Trial sequential analysis was performed to assess the possibility of type I or II errors and to compute the information size required for conclusive meta‐analysis.

Results

We identified six RCTs which enrolled a total of 1918 patients. There was no difference in the recurrence of diverticulitis between the mesalazine and placebo groups (OR 1.20, 95% CI 0.96–1.50, P = 0.11). A low level of heterogeneity among the studies existed (I2 = 9%, P = 0.36). When the mesalazine dose was ≤ 2 g/day, there was no difference in recurrence rate between the two groups (OR 1.10, 95% CI 0.79–1.54, P = 0.58). When the mesalazine dose was > 2 g/day, the risk of recurrence was higher in the mesalazine group (OR 1.28, 95% CI 1.02–1.62, P = 0.04). The information size was calculated as 2461 patients. Trial sequential analysis showed that the meta‐analysis was conclusive and the risk of type II error was minimal.

Conclusions

Mesalazine does not prevent the recurrence of diverticulitis in patients with SUDD. Further studies are required to investigate the role of mesalazine as an adjunct to other medical agents in the prevention of diverticulitis in patients with SUDD.
Increasing disturbance demands new policies to conserve intact forest
Authors: Müller Jörg , Noss Reed F. , Thorn Simon , Bässler Claus , Leverkus Alexandro B. , Lindenmayer David
Published: March 2018

Ongoing controversy over logging the ancient Białowieża Forest in Poland symbolizes a global problem for policies and management of the increasing proportion of the earth's intact forest that is subject to postdisturbance logging. We review the extent of, and motivations for, postdisturbance logging in protected and unprotected forests globally. An unprecedented level of logging in protected areas and other places where green‐tree harvest would not normally occur is driven by economic interests and a desire for pest control. To avoid failure of global initiatives dedicated to reducing the loss of species, five key policy reforms are necessary: (1) salvage logging must be banned from protected areas; (2) forest planning should address altered disturbance regimes for all intact forests to ensure that significant areas remain undisturbed by logging; (3) new kinds of integrated analyses are needed to assess the potential economic benefits of salvage logging against its ecological, economic, and social costs; (4) global and regional maps of natural disturbance regimes should be created to guide better spatiotemporal planning of protected areas and undisturbed forests outside reserves; and (5) improved education and communication programs are needed to correct widely held misconceptions about natural disturbances.
Nuclear protein in testis (NUT) carcinoma diagnosed using only FNA material in the absence of a histological sample
Authors: Horadagoda D. , Smith T. , Varikatt W.
Published: March 2018

This is a recently described rare, genetically defined aggressive carcinoma arising predominantly in the mid line structures. Here, we refine the cytomorphological features of this rare tumour. Accurate diagnosis is important to inform prognosis and guide management as new and ongoing clinical trials may offer effective treatment in the future.
Contrasting responses in community structure and phenology of migratory and non‐migratory pollinators to urbanization
Authors: Luder Katrin , Knop Eva , Menz Myles H. M.
Published: March 2018

Aim

Anthropogenic landscape change, such as urbanization, can affect community structure and ecological interactions. Furthermore, changes in ambient temperature and resource availability due to urbanization may affect migratory and non‐migratory species differently. However, the response of migratory species to urbanization is poorly investigated, and knowledge for invertebrates in particular is lacking. Our aim was to investigate whether there was a shift in community structure and phenology of hoverflies in urban landscapes, depending on migratory status.

Location

Switzerland.

Methods

Using a paired design, we compared urban and rural landscapes to investigate the impact of urbanization on the abundance, diversity and phenology of hoverflies. Furthermore, we tested whether migratory and non‐migratory species responded differently to urbanization.

Results

We observed a difference in the response of migratory and non‐migratory hoverfly communities. Although the abundance of hoverflies was higher in the rural ecosystem, driven by a high abundance of migratory species, there was no difference in species richness between the land use types. However, the community structure of non‐migratory species was significantly different between urban and rural ecosystems. The phenology of hoverflies differed between the two ecosystems, with an earlier appearance in the year of migratory species in urban landscapes.

Main conclusions

To our knowledge, this is the first study to investigate the response of migratory insect communities to urbanization. We demonstrated that migratory and non‐migratory hoverflies respond differently to urbanization. This highlights the importance of differentiating between trait and mobility groups to understand community assemblage patterns in anthropogenic landscapes. The differences in phenology supports the growing evidence that urbanization not only affects the phenology of vegetation, but also affects the higher trophic levels. Changes in the phenology and community composition of species as a result of anthropogenic landscape change may have important implications for the maintenance of key ecosystem functions, such as pollination.
HOTEL DEMAND BEFORE, DURING, AND AFTER SPORTS EVENTS: EVIDENCE FROM CHARLOTTE, NORTH CAROLINA
Authors: Depken Craig A. , Stephenson E. Frank
Published: March 2018

This paper uses daily hotel occupancy data to examine the effects of a wide variety of political and sporting events on the hotel room market of Charlotte, North Carolina from 2005 to 2014. Two political conventions and NASCAR auto races are associated with large increases in hotel occupancy, prices, and revenue, but many other events have no discernable effect on Charlotte's hotel market. The results also indicate that occupancy effects before or after most events are modest at best. Back‐of‐the‐envelope calculations show incremental hotel‐tax receipts fall short of the debt service incurred in constructing and maintaining the city's sports venues. (JELH71, Z23, Z28)
Field survey, isolation, identification and pathogenicity of Phytophthora species associated with a Mediterranean‐type tree species
Authors: Croeser L. , Paap T. , Calver M. C. , Andrew M. E. , Hardy G. E. St J. , Burgess T. I.
Published: March 2018

Corymbia calophylla (marri), a keystone tree species in the global biodiversity hot spot of southwestern Australia, is suffering decline and mortality associated with a canker disease caused by the endemic fungus Quambalaria coyrecup. Phytophthora species are frequently isolated from the rhizosphere of C. calophylla, and a hypothesis is that Phytophthora root infection is predisposing C. calophylla to this endemic canker pathogen. Field surveys were conducted in both anthropogenically disturbed and undisturbed C. calophylla stands, from where a total of 100 rhizosphere soil samples, from both healthy and cankered trees, were collected. Phytophthora species were isolated from 26% of the samples collected, with Phytophthora incidence significantly higher on disturbed stands than in natural forests (73% and 27%, respectively). Five Phytophthora species were recovered, including P. cinnamomi, P. elongata, P. multivora, P. pseudocryptogea and P. versiformis. Under‐bark inoculations with the Phytophthora isolates caused significant lesion lengths in excised C. calophylla stems. Corymbia calophylla response to pot infestation trials in the glasshouse varied between Phytophthora species and isolates, with isolates of P. cinnamomi and P. multivora causing a significant reduction in seedling root volume and often leading to seedling death. This study demonstrates that root disease caused by Phytophthora species, especially P. cinnamomi and P. multivora, has the ability to adversely affect C. calophylla health. This study leads the way to do a dual inoculation trial with the canker pathogen Q. coyrecup, and different Phytophthora species to investigate if Phytophthora root infection predisposes C. calophylla to this canker disease.
Contrast gain control and retinogeniculate communication
Authors: Alitto Henry J. , Rathbun Daniel L. , Fisher Tucker G. , Alexander Prescott C. , Usrey W. Martin
Published: March 2018

Visual information processed in the retina is transmitted to primary visual cortex via relay cells in the lateral geniculate nucleus (LGN) of the dorsal thalamus. Although retinal ganglion cells are the primary source of driving input to LGN neurons, not all retinal spikes are transmitted to the cortex. Here, we investigate the relationship between stimulus contrast and retinogeniculate communication and test the hypothesis that both the time course and strength of retinogeniculate interactions are dynamic and dependent on stimulus contrast. By simultaneously recording the spiking activity of synaptically connected retinal ganglion cells and LGN neurons in the cat, we show that the temporal window for retinogeniculate integration and the effectiveness of individual retinal spikes are inversely proportional to stimulus contrast. This finding provides a mechanistic understanding for the phenomenon of augmented contrast gain control in the LGN—a nonlinear receptive field property of LGN neurons whereby response gain during low‐contrast stimulation is enhanced relative to response gain during high‐contrast stimulation. In addition, these results support the view that network interactions beyond the retina play an essential role in transforming visual signals en route from retina to cortex.
Synchronization in the prefrontal–striatal circuit tracks behavioural choice in a go–no‐go task in rats
Authors: Stubbendorff Christine , Molano‐Mazon Manuel , Young Andrew M.J. , Gerdjikov Todor V.
Published: March 2018

Rodent striatum is involved in sensory‐motor transformations and reward‐related learning. Lesion studies suggest dorsolateral striatum, dorsomedial striatum and nucleus accumbens underlie stimulus–response transformations, goal‐directed behaviour and reward expectation, respectively. In addition, prefrontal inputs likely control these functions. Here, we set out to study how reward‐driven behaviour is mediated by the coordinated activity of these structures in the intact brain. We implemented a discrimination task requiring rats to either respond or suppress responding on a lever after the presentation of auditory cues in order to obtain rewards. Single unit activity in the striatal subregions and pre‐limbic cortex was recorded using tetrode arrays. Striatal units showed strong onset responses to auditory cues paired with an opportunity to obtain reward. Cue‐onset responses in both striatum and cortex were significantly modulated by previous errors suggesting a role of these structures in maintaining appropriate motivation or action selection during ongoing behaviour. Furthermore, failure to respond to the reward‐paired tones was associated with higher pre‐trial coherence among striatal subregions and between cortex and striatum suggesting a task‐negative corticostriatal network whose activity may be suppressed to enable processing of reward‐predictive cues. Our findings highlight that coordinated activity in a distributed network including both pre‐limbic cortex and multiple striatal regions underlies reward‐related decisions.
Neuromelanin‐sensitive magnetic resonance imaging features of the substantia nigra and locus coeruleus in de novo Parkinson's disease and its phenotypes
Authors: Wang J. , Li Y. , Huang Z. , Wan W. , Zhang Y. , Wang C. , Cheng X. , Ye F. , Liu K. , Fei G. , Zeng M. , Jin L.
Published: March 2018

Background and purpose

Neuromelanin of the brainstem, which is considered a marker of neurodegeneration in Parkinson's disease (PD), can be detected by T1‐weighted neuromelanin‐sensitive magnetic resonance imaging (NM‐MRI). Our aim was to investigate the NM‐MRI features of de novo PD and to determine whether these features are associated with motor and non‐motor symptoms in de novo PD patients.

Methods

Fifty‐one patients with de novo PD (Hoehn and Yahr stage 1–2) and 28 healthy controls were recruited. All subjects underwent clinical and MRI examinations including an NM‐MRI sequence. The width and contrast‐to‐noise ratio (CNR) of the substantia nigra pars compacta (SNc) and the CNR of the locus coeruleus (LC) were measured on NM‐MRI images.

Results

Both the width and CNR values of the high intensity signals in the SNc were significantly decreased in the lateral, central and medial SNc parts in de novo PD patients compared to control subjects. The changes in the SNc on NM‐MRI were not significantly different between the motor subgroups. The CNR values of the left LC were significantly lower in the PD group than in the control group. Specifically, the subtype of PD patients with depressive symptoms exhibited a significantly lower CNR in the left LC than the control group and PD patients without depressive symptoms.

Conclusions

Substantia nigra pars compacta neuromelanin changes occur across both motor and non‐motor (with and without depressive symptoms) subtypes, whilst LC changes are more notable in PD patients with depressive symptoms. Our results may provide new evidence to understand the pathophysiology of non‐motor symptoms in PD.
Beyond the physico‐chemical barrier: Glycerol and xylitol markedly yet differentially alter gene expression profiles and modify signalling pathways in human epidermal keratinocytes
Authors: Páyer Edit , Szabó‐Papp Judit , Ambrus Lídia , Szöllősi Attila Gábor , Andrási Mónika , Dikstein Shabtay , Kemény Lajos , Juhász István , Szegedi Andrea , Bíró Tamás , Oláh Attila
Published: March 2018

Polyols (e.g. glycerol, xylitol) are implicated as moisturizers of the skin and other epithelial tissues. However, we lack information about their exact cellular mechanisms and their effects on the gene expression profiles. Therefore, in this study, we aimed at investigating the effects of glycerol and xylitol on human epidermal keratinocytes. The polyols (identical osmolarities; xylitol: 0.0045%‐0.45%; glycerol: 0.0027%‐0.27%) did not alter cellular viability or intracellular calcium concentration. However, they exerted differential effects on the expression of certain genes and signalling pathways. Indeed, both polyols up‐regulated the expression of filaggrin, loricrin, involucrin and occludin; yet, xylitol exerted somewhat more profound effects. Moreover, while both polyols stimulated the MAPK pathway, only xylitol induced the activation‐dependent translocation of protein kinase Cδ, a key promoter of epidermal differentiation. Finally, in various keratinocyte inflammation models, both polyols (albeit with different efficacies) exerted anti‐inflammatory effects. Taken together, these data strongly suggest that glycerol and xylitol differentially modulate expressions of multiple genes and activities of signalling pathways in epidermal keratinocytes. Thus, our findings invite clinical trials to explore the applicability and the impact of a combined glycerol‐xylitol therapy in the management of various skin conditions.
Systematic Review and Meta‐analysis of Stepping Stones Triple P for Parents of Children with Disabilities
Authors: Ruane AIlbhe , Carr Alan
Published: March 2018

The aim of this systematic review and meta‐analysis was to examine the effectiveness of Stepping Stones Triple P (SSTP) parent training programs on child behavior problems and parenting outcomes in families of children with developmental disabilities. Sixteen suitable studies including data from over 900 families were identified in a search for English language published and unpublished controlled outcome studies. SSTP has five levels on a graded continuum of increasing intensity targeting families with differing degrees of treatment need from low intensity media‐based parenting information campaigns at level 1, through brief interventions at levels 2 and 3, to more intensive parent training and family therapy interventions at levels 4 and 5. Analyses were conducted on the combination of all levels of SSTP and separately for each level. For combined levels, significant overall effect sizes were found for parent‐reported child problems (d = 0.46), researcher observed child behavior (d = 0.51), parenting style (d = 0.70), parenting satisfaction/self‐efficacy (d = 0.44), parental adjustment (d = 0.27), and coparental relationship (d = 0.26), but not researcher‐observed parent behavior. Strong support was found for level 4 SSTP as an effective intervention for improving child and parent outcomes in families of children with disabilities who have clinically significant problems. Less intensive SSTP interventions for cases with circumscribed difficulties yielded fewer significant treatment effects, and there were relatively few studies of such interventions.