bluuebunny/crossref_metadata_2025 huggingface dataset:
Exome sequencing reveals new causal mutations in children with epileptic encephalopathies
Authors: Veeramah Krishna R. , Johnstone Laurel , Karafet Tatiana M. , Wolf Daniel , Sprissler Ryan , Salogiannis John , Barth‐Maron Asa , Greenberg Michael E. , Stuhlmann Till , Weinert Stefanie , Jentsch Thomas J. , Pazzi Marjorie , Restifo Linda L. , Talwar Dinesh , Erickson Robert P. , Hammer Michael F.
Published: May 2013

Purpose

The management of epilepsy in children is particularly challenging when seizures are resistant to antiepileptic medications, or undergo many changes in seizure type over time, or have comorbid cognitive, behavioral, or motor deficits. Despite efforts to classify such epilepsies based on clinical and electroencephalographic criteria, many children never receive a definitive etiologic diagnosis. Whole exome sequencing (WES) is proving to be a highly effective method for identifying de novo variants that cause neurologic disorders, especially those associated with abnormal brain development. Herein we explore the utility of WES for identifying candidate causal de novo variants in a cohort of children with heterogeneous sporadic epilepsies without etiologic diagnoses.

Methods

We performed WES (mean coverage approximately 40×) on 10 trios comprised of unaffected parents and a child with sporadic epilepsy characterized by difficult‐to‐control seizures and some combination of developmental delay, epileptic encephalopathy, autistic features, cognitive impairment, or motor deficits. Sequence processing and variant calling were performed using standard bioinformatics tools. A custom filtering system was used to prioritize de novo variants of possible functional significance for validation by Sanger sequencing.

Key Findings

In 9 of 10 probands, we identified one or more de novo variants predicted to alter protein function, for a total of 15. Four probands had de novo mutations in genes previously shown to harbor heterozygous mutations in patients with severe, early onset epilepsies (two in SCN1A, and one each in CDKL5 and EEF1A2). In three children, the de novo variants were in genes with functional roles that are plausibly relevant to epilepsy (KCNH5, CLCN4, and ARHGEF15). The variant in KCNH5 alters one of the highly conserved arginine residues of the voltage sensor of the encoded voltage‐gated potassium channel. In vitro analyses using cell‐based assays revealed that the CLCN4 mutation greatly impaired ion transport by the ClC‐4 2Cl−/H+‐exchanger and that the mutation in ARHGEF15 reduced GEF exchange activity of the gene product, Ephexin5, by about 50%. Of interest, these seven probands all presented with seizures within the first 6 months of life, and six of these have intractable seizures.

Significance

The finding that 7 of 10 children carried de novo mutations in genes of known or plausible clinical significance to neuronal excitability suggests that WES will be of use for the molecular genetic diagnosis of sporadic epilepsies in children, especially when seizures are of early onset and difficult to control.
Identification of a biomanipulation‐driven regime shift in Lake Vesijärvi: implications for lake management
Authors: Anttila Saku , Ketola Mirva , Kuoppamäki Kirsi , Kairesalo Timo
Published: May 2013

The biomanipulation of Lake Vesijärvi in southern Finland putatively changed the lake ecosystem resulting in a clear‐water state, but the dynamics behind the observed change remained unverified.

We used a general analytical approach to identify abrupt transitions in the long‐term monitoring data of Lake Vesijärvi. Methods included the identification of breakpoints in chlorophyll a (response variable), in total phosphorus (TP; key driver) and in large‐bodied cladocerans (feedback mechanism of biomanipulation). In addition, we characterised the frequency distribution and temporal variance of the response variable, as well as the interaction between TP and chlorophyll a.

According to long‐term records, biomanipulation resulted in two distinct states: (i) a eutrophic state, where chlorophyll a and TP were linearly correlated and (ii) a mesotrophic state, where the key driver and response variables were not significantly correlated. The changed relationship between the key driver and response variables, together with the increase in the body size of cladocerans, suggested a hysteresis‐type transition phase. However, the frequency distribution and the temporal variance of chlorophyll a agreed also with a threshold‐type of transition.

Zooplankton seemed to be more important in maintaining the clear‐water state than previously reported. Our results highlight the role of long‐term monitoring data and the characterisation of abrupt transitions in ecosystem interactions as tools for sustainable management of lake ecosystems.
Evolutionary history of alpine and subalpine Daphnia in western North America
Authors: Miner Brooks E. , Knapp Roland A. , Colbourne John K. , Pfrender Michael E.
Published: May 2013

Studying adaptation within a multispecies complex can be challenging due to uncertainty about the evolutionary relationships among populations. An accurate phylogenetic context is especially important for drawing conclusions about phenotypic evolution for species used as model organisms in ecological and evolutionary research.

Within the zooplankton genus Daphnia, carapace melanin pigmentation has often been suggested as an adaptation to ultraviolet radiation exposure in clear‐water habitats. However, the evolutionary history of melanism has been obscured because of phylogenetic uncertainty.

We inferred a molecular phylogeny based on the mitochondrial ND5 and COI loci and used it to explore the evolutionary history of populations belonging to the Daphnia pulex species complex that inhabit alpine and subalpine lakes and ponds in western North America.

Our analysis confirms the existence of a distinct mitochondrial clade for Daphnia melanica within the D. pulex species complex and shows it to be more geographically widespread than previously thought and includes populations from several disjunct sites.

We show that melanism, once used as a diagnostic character for identifying Daphnia species, is polymorphic within the D. melanica clade. This polymorphism suggests the possibility of independent parallel evolutionary losses and gains of melanism in this species complex.
Surface Modification of Alumina/ Zirconia Ceramics Upon Different Fluoride‐Based Treatments
Authors: Cavalu Simona , Banica Florin , Simon Viorica , Akin Ipek , Goller Gultekin
Published: May 2013

The aim of this study was to prepare and to characterize the structure of Al2O3–3YSZ composites with 5% TiO2 addition as well as the surface modification upon treatments with SnF2 and NaBF4, respectively. SEM micrographs showed the controlled densification of the composites as an effect of 3YSZ and TiO2 addition to alumina matrix. By FTIR and XRD, the characteristics of Al‐O and Zr‐O vibrations, respectively, the diffractions lines related to α‐corundum and zirconia in tetragonal phase were discussed. Qualitative and quantitative results obtained by XPS and ATR FTIR demonstrated that the proposed materials are more sensitive to SnF2 than to NaBF4 treatment.
Fracture Resistance Behavior of High‐Thermal‐Conductivity Silicon Nitride Ceramics
Authors: Zhou You , Ohji Tatsuki , Hyuga Hideki , Yoshizawa Yu‐ichi , Murayama Norimitsu , Hirao Kiyoshi
Published: May 2013

Silicon nitride ceramics were prepared from a high‐purity silicon powder doped with 2 mol% Y2O3 and 5 mol% MgO as sintering additives via a route of sintering of reaction‐bonded silicon nitride (SRBSN). The materials sintered at 1900°C for 3, 6, 12, and 24 h had thermal conductivities of 109, 125, 146, and 154 W/m/K, and four‐point bending strengths of 786, 676, 608, and 505 MPa, respectively. The fracture toughness values, determined by the single‐edge‐precracked‐beam (SEPB) method, were 8.4, 8.6, 9.7, and 10.7 MPa m1/2 for the materials sintered for 3, 6, 12, and 24 h, respectively, which were similar to the results measured by the chevron‐notched‐beam (CNB) test method. The materials sintered for longer times (12 and 24 h) showed stronger R‐curve behaviors over longer range of crack extension, in comparison with the materials sintered for shorter times (3 and 6 h).
A predictive framework to assess spatio‐temporal variability of infestations by the European spruce bark beetle
Authors: Stadelmann Golo , Bugmann Harald , Wermelinger Beat , Meier Franz , Bigler Christof
Published: May 2013

Natural disturbances are key factors for the development of forest ecosystems. In forests of central Europe and Scandinavia, the European spruce bark beetle Ips typographus is the most devastating biotic disturbance agent in Norway spruce Picea abies, but our understanding of the factors determining its spatio‐temporal dynamics is still quite limited. To quantify the drivers of bark beetle dynamics, we analyzed a survey dataset with annual resolution that covers 17 yr and 469 forest districts (10 860 km2 of forest area) all over Switzerland. We used Poisson log‐normal models in a Bayesian framework to analyze the spatio‐temporal dynamics of bark beetle infestation spots at the forest district level. Bark beetle infestations increased with increasing heat sum (> 8.3°C), volume of standing Norway spruce stock, and the number of infestation spots of the previous year. Precipitation tended to slightly affect the risk of bark beetle infestations. Two major storm events further increased the spatio‐temporal variability of bark beetle infestations. Spruce abundance, storm damage and temperature are known to be important factors influencing the population dynamics of the European spruce bark beetle. Our study is the first to quantify the combined effects of spruce abundance and heat sum, whereby the heat sum turned out to be the most important and consistent predictor. Because our study area encompasses large ecological and climatological gradients, our model is likely to be applicable to Norway spruce forests in other regions of central Europe and Scandinavia.
How Effective is the Cognitive Interview When Used with Adults with Intellectual Disabilities Specifically with Conversation Recall?
Authors: Clarke Jason , Prescott Katherine , Milne Rebecca
Published: May 2013

Background

The cognitive interview (CI) has been shown to increase correct memory recall of a diverse range of participant types, without an increase in the number of incorrect or confabulated details. However, it has rarely been examined for use with adults with intellectual disability.

Measures and Method

This study compared the memory recall of twenty‐one adults with a mild intellectual disability (ID) (IQ 70–50) and twenty‐one adults from the general population (GP). Participants viewed a film of a staged distraction theft and were interviewed using either the CI or the structured interview (SI).

Results

The CI, when compared to the SI, enhanced the correct recall of person, action and conversation (gist) detail for both participant types, without increasing the number of incorrect or confabulated details reported. The ID group reported significantly less correct information than the GP regardless of the interview used.

Conclusion

The findings suggest that the CI can enable adults with intellectual disability to provide a fuller picture about an experienced event. Implications of this research are discussed.
Influenza stigma during the 2009 H1N1 pandemic
Authors: Earnshaw Valerie A. , Quinn Diane M.
Published: May 2013

The current study examined the extent to which H1N1 was stigmatized at the height of the 2009 H1N1 pandemic in the U.S. and explored the role that H1N1 stigma played in people's desire for physical distance from others with H1N1. H1N1 was the most stigmatized disease, with participants endorsing greater prejudice toward people with H1N1 than people with cancer or HIV/AIDS. Further, H1N1 stigma partially mediated the relationship between participants' perceptions that H1N1 was threatening and their desire for physical distance from people with H1N1. Therefore, H1N1 stigma played a role in, but was not entirely responsible for, the relationship between perceptions that H1N1 was threatening and the desire for distance from others with H1N1.
Rape, money, and the psychology of taboo
Authors: Shen Francis X.
Published: May 2013

Policy and legal decision making sometimes requires difficult assessments about how to translate the harm of sexual assault into dollar amounts. A web‐based experiment (n = 743) was designed to test the psychology of taboo theory in this important context. The experiment included two unique features. First, subjects were randomly assigned to assess vignettes in either a dollar metric, a 7‐point harm scale metric, or a years‐in‐jail metric. Second, subjects were given the opportunity, but not required, to provide a comment when making their assessment. Assignment to the dollar metric treatment group resulted in subjects freely expressing significantly more constitutive incommensurability comments. The effect was most pronounced when the level of sexual assault in the vignette was greatest.
A randomized controlled double‐blind investigation of the effects of vitamin D dietary supplementation in subjects with atopic dermatitis
Authors: Hata T.R. , Audish D. , Kotol P. , Coda A. , Kabigting F. , Miller J. , Alexandrescu D. , Boguniewicz M. , Taylor P. , Aertker L. , Kesler K. , Hanifin J.M. , Leung D.Y.M. , Gallo R.L.
Published: May 2013

Background

Subjects with atopic dermatitis (AD) have defects in antimicrobial peptide (AMP) production possibly contributing to an increased risk of infections. In laboratory models, vitamin D can alter innate immunity by increasing AMP production.

Objective

To determine if AD severity correlates with baseline vitamin D levels, and to test whether supplementation with oral vitamin D alters AMP production in AD skin.

Methods

This was a multi‐centre, placebo‐controlled, double‐blind study in 30 subjects with AD, 30 non‐atopic subjects, and 16 subjects with psoriasis. Subjects were randomized to receive either 4000 IU of cholecalciferol or placebo for 21 days. At baseline and day 21, levels of 25‐hydroxyvitamin D (25OHD), cathelicidin, HBD‐3, IL‐13, and Eczema Area and Severity Index (EASI) and Rajka‐Langeland scores were obtained.

Results

At baseline, 20% of AD subjects had serum 25OHD below 20 ng/mL. Low serum 25OHD correlated with increased Fitzpatrick Skin Type and elevated BMI, but not AD severity. After 21 days of oral cholecalciferol, mean serum 25OHD increased, but there was no significant change in skin cathelicidin, HBD‐3, IL‐13 or EASI scores.

Conclusions

This study illustrated that darker skin types and elevated BMI are important risk factors for vitamin D deficiency in subjects with AD, and highlighted the possibility that seasonality and locale may be potent contributors to cathelicidin induction through their effect on steady state 25OHD levels. Given the molecular links between vitamin D and immune function, further study of vitamin D supplementation in subjects with AD is warranted.
Species with a chemical defence, but not chemical offence, live longer
Authors: Hossie T. J. , Hassall C. , Knee W. , Sherratt T. N.
Published: May 2013

Evolutionary hypotheses for ageing generally predict that delayed senescence should evolve in organisms that experience lower extrinsic mortality. Thus, one might expect species that are highly toxic or venomous (i.e. chemically protected) will have longer lifespans than related species that are not likewise protected. This remarkable relationship has been suggested to occur in amphibians and snakes. First, we show that chemical protection is highly conserved in several lineages of amphibians and snakes. Therefore, accounting for phylogenetic autocorrelation is critical when conservatively testing evolutionary hypotheses because species may possess similar longevities and defensive attributes simply through shared ancestry. Herein, we compare maximum longevity of chemically protected and nonprotected species, controlling for potential nonindependence of traits among species using recently available phylogenies. Our analyses confirm that longevity is positively correlated with body size in both groups which is consistent with life‐history theory. We also show that maximum lifespan was positively associated with chemical protection in amphibian species but not in snakes. Chemical protection is defensive in amphibians, but primarily offensive (involved in prey capture) in snakes. Thus, we find that although chemical defence in amphibians favours long life, there is no evidence that chemical offence in snakes does the same.
Biological observations on the bristly catshark Bythaelurus hispidus from deep waters off the south‐west coast of India
Authors: Akhilesh K. V. , White W. T. , Bineesh K. K. , Ganga U. , Pillai N. G. K.
Published: May 2013

Biological data are presented for the poorly known bristly catshark Bythaelurus hispidus based on specimens collected from the by‐catch of the commercial deep‐sea shrimp trawl fishery operating in the Arabian Sea at depths of 200–500 m off the south‐west coast of India. One hundred and sixty‐two individuals, which ranged from 120 to 366 mm total length (LT), were collected for this study. Size‐at‐maturity (L50) for females and males was estimated at 252 and 235 mm LT, respectively. The reproductive mode of B. hispidus was aplacental viviparity, which is the rarest reproductive mode within the Scyliorhinidae and is considered to be the most advanced of the three reproductive modes occurring within this family. Dietary analysis of stomach contents revealed B. hispidus feeds on a variety of prey, primarily fishes.
Turbulent life: the experiences of the family members of patients suffering from depression
Authors: Radfar M. , Ahmadi F. , Fallahi Khoshknab M.
Published: May 2013

Accessible summary

Families of patients suffering from depression tolerate a great amount of stress during provision of care to the patients.

Penetration of the illness in family members, daily life's hardship, too much attention to the patients, delay in the acceptance of the illness and concern about the patient's current and future conditions result in turbulent life in the families.

If nurses educate families about how to gain financial and emotional support, the families’ life inflammation will reduce.

Families of patients suffering from depression have an important role in provision of care to the patients, which also may impose a great amount of stress on them. The purpose of this study was to explore and describe the experiences of the family members of patients suffering from depression on the impact of provision of care to the patients. A qualitative design using a content analysis approach was used to gather and analyse data. Unstructured interviews were conducted with 26 family members of patients suffering from depression chosen using purposeful sampling. During data analysis, ‘turbulent life’ was developed as the main theme along with five other categories including: ‘penetration of the illness in the family’, ‘daily life's hardship’, ‘too much attention to the patient’, ‘delay in the acceptation of the illness’ and ‘concern about the patient's current and future conditions’. Each category consisted of several subcategories. It is concluded that the psychological, physical and financial factors imposed on families result in ‘turbulent life’. Nurses can reduce the burden of providing care to patients suffering from depression through improving the knowledge of family members about how to communicate with patients and increase emotional supportive resources to the patients and their family members.
A HYBRID BOOTSTRAP APPROACH TO UNIT ROOT TESTS
Authors: Li Guodong , Leng Chenlei , Tsai Chih‐Ling
Published: May 2013

This article proposes a hybrid bootstrap approach to approximate the augmented Dickey–Fuller test by perturbing both the residual sequence and the minimand of the objective function. Since innovations can be dependent, this allows the inclusion of conditional heteroscedasticity models. The new bootstrap method is also applied to least absolute deviation‐based unit root test statistics, which are efficient in handling heavy‐tailed time‐series data. The asymptotic distributions of resulting bootstrap tests are presented, and Monte Carlo studies demonstrate the usefulness of the proposed tests.
Effect of hepatitis C virus on immunological and virological responses in HIV‐infected patients initiating highly active antiretroviral therapy: a meta‐analysis
Authors: Tsiara C. G. , Nikolopoulos G. K. , Dimou N. L. , Bagos P. G. , Saroglou G. , Velonakis E. , Hatzakis A.
Published: May 2013

Co‐infection of human immunodeficiency virus (HIV) with hepatitis C virus (HCV) is rather common. In the era of highly active antiretroviral therapy (HAART), viral hepatitis could result in adverse outcomes in HIV+ patients. The current meta‐analysis aims to evaluate the impact of HCV on immunological and virological responses after HAART initiation in HIV/HCV co‐infected individuals by synthesizing the existing scientific evidence. A comprehensive search of electronic databases was performed. Eligible studies were analysed using univariate and multivariate meta‐analytic methods. Totally, 21 studies involving 22533 individuals were eligible. The estimated summary difference in CD4 cell counts increase between HIV and HIV/HCV co‐infected subjects after 3–12 months on HAART was 34.86 cells/mm3 [95% confidence interval (CI): 16.82–52.89]. The difference was more prominent in patients with baseline CD4 counts below 350 cells/mm3 (38.97, 95% CI: 20.00–57.93) and attenuated 2 years later (13.43, 95% CI: 0.83–26.04). The analysis of ratio measures yielded similar findings. The virological control remained unaffected by the presence of HCV (adjusted Hazard Ratio for co‐infected patients vs those with HIV alone: 0.99, 95% CI: 0.91–1.07). The bivariate meta‐analytic method confirmed the results of the univariate approaches. This meta‐analysis supports the adverse effect of HCV on immune recovery of HIV+ patients initiating HAART, especially of those with initially impaired immunologic status. Although this effect diminishes over time, early administration of HAART in the setting of co‐infection seems to be justified.
Reading videogames as (authorless) literature
Authors: Berger Richard , McDougall Julian
Published: May 2013

This article presents the outcomes of research, funded by the Arts and Humanities Research Council in England and informed by work in the fields of new literacy research, gaming studies and the socio‐cultural framing of education, for which the videogame L. A. Noire was studied within the orthodox framing of the English literature curriculum at A level (pre‐university) and undergraduate (degree level) in the United Kingdom. A mixed methods approach was adopted. Firstly, students contributed to a gameplay blog requiring them to discuss their in‐game experience through the ‘language game’ of English literature, culminating in answering a question constructed with the idioms of the subject's set text ‘final examination’. Secondly, students taught their teachers to play L. A. Noire, with free choice over the context for this collaboration. Thirdly, participants returned to traditional roles to work through a set of study materials, designed to reproduce the conventions of the ‘study guide’ for literature education. Fourthly, interviews were conducted after each phase. The interviews informed a redrafting of the study materials, which are now available online for teachers. In the act of inserting the study of L. A. Noire into the English literature curriculum as currently framed, this research raises epistemological questions about ‘subject identity’, and the implications for digital transformations of texts for ideas about cultural value in schooled literacy and also the politics of ‘expertise’ in pedagogic relations.
Effect of a low glycaemic index diet in gestational diabetes mellitus on post‐natal outcomes after 3 months of birth: a pilot follow‐up study
Authors: Louie Jimmy Chun Yu , Markovic Tania P , Ross Glynis P , Foote Deborah , Brand‐Miller Jennie C
Published: May 2013

A low glycaemic index (LGI) diet during pregnancy complicated by gestational diabetes mellitus (GDM) may offer benefits to the mother and infant pair beyond those during pregnancy. We aimed to investigate the effect of an LGI diet during pregnancy complicated with GDM on early post‐natal outcomes. Fifty‐eight women (age: 23–41 years; mean ± SD pre‐pregnancy body mass index: 24.5 ± 5.6 kg m−2) who had GDM and followed either an LGI diet (n = 33) or a conventional high‐fibre diet (HF; n = 25) during pregnancy had a 75‐g oral glucose tolerance test and blood lipid tests at 3 months post‐partum. Anthropometric assessments were conducted for 55 mother–infant pairs. The glycaemic index of the antenatal diets differed modestly (mean ± SD: 46.8 ± 5.4 vs. 52.4 ± 4.4; P < 0.001), but there were no significant differences in any of the post‐natal outcomes. In conclusion, an LGI diet during pregnancy complicated by GDM has outcomes similar to those of a conventional healthy diet. Adequately powered studies should explore the potential beneficial effects of LGI diet on risk factors for chronic disease.
Cryptococcus gattii in urban trees from cities in North‐eastern Argentina
Authors: Mazza Mariana , Refojo Nicolás , Bosco‐Borgeat María Eugenia , Taverna Constanza Giselle , Trovero Alicia Cristina , Rogé Ariel , Davel Graciela
Published: May 2013

In the city of Buenos Aires, Argentina, Cryptococcus gattii genotype AFLP4/VGI was found to be associated with decaying wood in hollows of different tree species. The aim of this study was to investigate the presence of C. gattii in the environment of riverside cities of the river Paraná, and to describe its serotypes and molecular types. Five hundred samples were collected in 50 parks by swabbing tree hollows. The samples were inoculated on caffeic acid agar supplemented with chloramphenicol, and incubated at 28 °C for 1 week with a daily observation. The isolates were identified by conventional methods. The serotype was determined by slide agglutination with specific antisera. Molecular typing was carried out by PCR‐RFLP of the URA5 gene. Four isolates of C. gattii were recovered: Cryptococcus gattii serotype B, genotype AFLP4/VGI, isolated from Eucalyptus sp. in the city of Rosario and from Grevillea robusta in the city of La Paz; and C. gattii serotype C, genotype AFLP5/VGIII, isolated from two different Tipuana tipu trees in the city of Resistencia. Here, we report for the first time the isolation of C. gattii serotype C, genotype AFLP5/VGIII, from environmental samples in Argentina.
Is bigger better? A retrospective analysis of native renal biopsies with 16 Gauge versus 18 Gauge automatic needles
Authors: Mai Jun , Yong Jim , Dixson Hugh , Makris Angela , Aravindan Ananthakrishnapuram , Suranyi Michael G , Wong Jeffrey
Published: May 2013

Aim

Percutaneous renal biopsy (PRB) remains the gold standard for the diagnosis of renal disease; however, the tissue yield which relates to the optimal needle size used for native‐kidney biopsies has not been clearly established. Our study compares the sample adequacy and complication rates using 16 gauge (G) and 18 gauge (G) automatic needles on native kidney PRB.

Methods

A retrospective analysis was performed of native‐kidney biopsies at two centres, one exclusively using 16G and the other exclusively using 18G needles. All samples were assessed by a single centralized pathology service. We compared patient characteristics, indications, diagnoses, adequacy of tissue samples, and complications.

Results

A total of 934 native‐kidney biopsies were performed with real time ultrasound guidance: 753 with Bard Max Core 16G × 16 cm needles, and 181 with Bard Magnum 18G × 20 cm needles. The median (range) of total glomeruli count per biopsy was higher in the 16G group compared with the 18G group (19 (0–66) vs 12 (0–35), P < 0.001), despite having fewer cores per biopsy (2 (0–4) vs 3 (1–4), P < 0.001). The 16G group provided a greater proportion of adequate biopsy samples (94.7% vs 89.4%, P = 0.001). There was no significant difference in the frequency of total complications between the 16G and 18G groups (3.7% vs 2.2%, P = 0.49).

Conclusion

This retrospective study demonstrates 16G needles provide more glomeruli, more diagnostically adequate renal tissue, with fewer cores without a significant increase in complications compared with 18G needles. Based on these observations, 16G needles should be considered as the first line option in native‐kidney PRB.
The binomial symptom index: toward an optimal method for the evaluation of symptom association in gastroesophageal reflux
Authors: Barriga‐Rivera A. , Elena M. , Moya M. J. , Lopez‐Alonso M.
Published: May 2013

Background

The evaluation of symptom association in gastroesophageal reflux is an open problem. The scientific literature reports important deficiencies and clinicians are claiming a new methodology. This article provides an optimal method for the evaluation of symptom association, the binomial symptom index (BSI).

Methods

A mathematical description of the BSI was presented for the study of association and causality. A total of n = 850 000 patients were simulated using a Monte Carlo model to perform a two‐way sensitivity analysis. The average and the standard deviation of the BSI were evaluated in groups of 5000 patients with the same values of the reflux rate, symptom rate, association ratio, window of association, and monitoring time in order to contrast their influence on the estimator.

Key Results

The BSI decreased with the number of reflux episodes when there was association, and remained constant and below 40% when there was not. The standard deviation was no higher than 40% and decreased with the reflux or symptom rates, and more sharply with the monitoring time, reaching approximately 0% for 50 days. A window length matching the characteristic reflux‐symptom lag maximized the overall BSI and minimized its dispersion. Twenty‐four hour and 96‐h monitorings allowed detecting association ratios of 50% and 25%, respectively.

Conclusions & Inferences

The BSI is a simple and reliable index for the evaluation of symptom association that considers all the parameters under analysis. Defining an appropriate cut‐off value, the BSI can provide a measure of probability and strength of association simultaneously.
Parent‐only vs. parent‐child (family‐focused) approaches for weight loss in obese and overweight children: a systematic review and meta‐analysis
Authors: Jull A. , Chen R.
Published: May 2013

Families are recommended as the agents of change for weight loss in overweight and obese children; family approaches are more effective than those that focus on the child alone. However, interventions that focus on parents alone have not been summarized. The objective of this review was to assess the effectiveness of interventions that compared a parent‐only (PO) condition with a parent‐child (PC) condition. Four trials using a similar between‐group background approaches to overweight and obese children's weight loss met the inclusion criteria, but only one trial reported sufficient data for meta‐analysis. Further information was obtained from authors. Meta‐analysis showed no significant difference in z‐BMI from baseline to end of treatment between the conditions (three trials) or to end of follow up (two trials). The trials were at risk of bias and no single trial was at lower risk of bias than others. There is an absence of high quality evidence regarding the effect of parent‐only interventions for weight loss in children compared to parent‐child interventions, but current evidence suggests the need for further investigation.
Isotopic composition of transpiration and rates of change in leaf water isotopologue storage in response to environmental variables
Authors: SIMONIN KEVIN A. , RODDY ADAM B. , LINK PERCY , APODACA RANDY , TU KEVIN P. , HU JIA , DAWSON TODD E. , BARBOUR MARGARET M.
Published: May 2013

During daylight hours, the isotope composition of leaf water generally approximates steady‐state leaf water isotope enrichment model predictions. However, until very recently there was little direct confirmation that isotopic steady‐state (ISS) transpiration in fact exists. Using isotope ratio infrared spectroscopy (IRIS) and leaf gas exchange systems we evaluated the isotope composition of transpiration and the rate of change in leaf water isotopologue storage (isostorage) when leaves were exposed to variable environments. In doing so, we developed a method for controlling the absolute humidity entering the gas exchange cuvette for a wide range of concentrations without changing the isotope composition of water vapour. The measurement system allowed estimation of 18O enrichment both at the evaporation site and for bulk leaf water, in the steady state and the non‐steady state. We show that non–steady‐state effects dominate the transpiration isoflux even when leaves are at physiological steady state. Our results suggest that a variable environment likely prevents ISS transpiration from being achieved and that this effect may be exacerbated by lengthy leaf water turnover times due to high leaf water contents.
Auxin transport during root gravitropism: transporters and techniques
Authors: Geisler M. , Wang B. , Zhu J.
Published: May 2013

Root gravitropism is a complex, plant‐specific process allowing roots to grow downward into the soil. Polar auxin transport and redistribution are essential for root gravitropism. Here we summarise our current understanding of underlying molecular mechanisms and involved transporters that establish, maintain and redirect intercellular auxin gradients as the driving force for root gravitropism. We evaluate the genetic, biochemical and cell biological approaches presently used for the analysis of auxin redistribution and the quantification of auxin fluxes. Finally, we also discuss new tools that provide a higher spatial or temporal resolution and our technical needs for future gravitropism studies.
Translation and validation of the wound‐specific quality of life instrument Cardiff Wound Impact Schedule in a Swedish population
Authors: Fagerdahl Ann‐Mari , Boström Lennart , Ulfvarson Johanna , Bergström Gunnar , Ottosson Carin
Published: May 2013

Purpose

To translate and validate the wound‐specific health‐related quality of life instrument, the Cardiff Wound Impact Schedule (CWIS) in a Swedish population.

Methods

The instrument was first translated into Swedish, using the Standard Linguistic Validation Process. The Swedish version of the CWIS was then tested for its psychometric properties in a Swedish context. A total of 117 patients with acute and hard‐to‐heal wounds were included. The patients were asked to fill in the Swedish version of the CWIS and the generic instrument SF‐36 at baseline and after 1 week. Patients with acute wounds were also asked to fill in both instruments after 6 weeks.

Results

Face validity and content validity were assessed by patients and an expert group, and judged as good. Criterion validity was calculated with correlation between CWIS and SF‐36, reaching moderate to high values. Reliability of the three domains of the CWIS measured with internal consistency and test–retest stability was acceptable to excellent. Internal responsiveness was assessed with standardised response mean and showed moderate to high sensitivity.

Conclusions

This study concludes that the Swedish version of CWIS is a valid and reliable tool for measuring health‐related quality of life in patients with acute and hard‐to‐heal wounds.
Export Credit Guarantees and Export Performance: An Empirical Analysis for Germany
Authors: Felbermayr Gabriel J. , Yalcin Erdal
Published: May 2013

Recent literature finds that exporters are particularly vulnerable to financial market frictions. As a consequence, exports may be lower than their efficient levels. For this reason, many countries support exporters by underwriting export credit guarantees. The empirical evidence on the effects of those policies is, however, very limited. In this paper, we use sectoral data on export credit guarantees issued by the German government. We investigate whether those guarantees indeed do increase exports and whether they remedy the export‐restricting effect of credit market imperfections both on the sectoral and on the export‐market levels. Exploiting the sectoral structure of a rich three‐way panel data set of German exports, we control for unobserved heterogeneity on the country‐year, sector‐year and country‐sector dimensions. We document a robust export‐increasing effect of guarantees. There is some evidence that the effect is larger for export markets with poor financial institutions and in sectors that rely more on external finance.
Reclaiming Diné Film: Visual Sovereignty and the Return of Navajo Film Themselves
Authors: Peterson Leighton C.
Published: May 2013

In the summer of 1966, seven Navajo community members from Pine Springs, Arizona, were the subjects of one of the most provocative experiments in cognitive and visual anthropology yet completed, the Navajo Film Project, resulting in Sol Worth and John Adair's seminal work Through Navajo Eyes, as well as seven short films produced by Navajo filmmakers that garnered worldwide attention in their own right. In 2011, the films were repaired and returned to the Navajo Nation for public screenings, the first step in a process of repatriation and resignification that mirrors the repatriation of other visual media to Navajo and indigenous communities. The return of the films offers a unique opportunity to reexamine the meanings of the films and the project itself, reframing the discussion around issues of visual sovereignty, community reengagements, and “reclaiming” Diné/Navajo histories.
Resolution enhancement of lung 4D‐CT data using multiscale interphase iterative nonlocal means
Authors: Zhang Yu , Yap Pew‐Thian , Wu Guorong , Feng Qianjin , Lian Jun , Chen Wufan , Shen Dinggang
Published: May 2013

Purpose:

Four‐dimensional computer tomography (4D‐CT) has been widely used in lung cancer radiotherapy due to its capability in providing important tumor motion information. However, the prolonged scanning duration required by 4D‐CT causes considerable increase in radiation dose. To minimize the radiation‐related health risk, radiation dose is often reduced at the expense of interslice spatial resolution. However, inadequate resolution in 4D‐CT causes artifacts and increases uncertainty in tumor localization, which eventually results in extra damages of healthy tissues during radiotherapy. In this paper, the authors propose a novel postprocessing algorithm to enhance the resolution of lung 4D‐CT data.

Methods:

The authors' premise is that anatomical information missing in one phase can be recovered from the complementary information embedded in other phases. The authors employ a patch‐based mechanism to propagate information across phases for the reconstruction of intermediate slices in the longitudinal direction, where resolution is normally the lowest. Specifically, the structurally matching and spatially nearby patches are combined for reconstruction of each patch. For greater sensitivity to anatomical details, the authors employ a quad‐tree technique to adaptively partition the image for more fine‐grained refinement. The authors further devise an iterative strategy for significant enhancement of anatomical details.

Results:

The authors evaluated their algorithm using a publicly available lung data that consist of 10 4D‐CT cases. The authors’ algorithm gives very promising results with significantly enhanced image structures and much less artifacts. Quantitative analysis shows that the authors’ algorithm increases peak signal‐to‐noise ratio by 3–4 dB and the structural similarity index by 3%–5% when compared with the standard interpolation‐based algorithms.

Conclusions:

The authors have developed a new algorithm to improve the resolution of 4D‐CT. It outperforms the conventional interpolation‐based approaches by producing images with the markedly improved structural clarity and greatly reduced artifacts.
An adaptive planning strategy for station parameter optimized radiation therapy (SPORT): Segmentally boosted VMAT
Authors: Li Ruijiang , Xing Lei
Published: May 2013

Purpose:

Conventional volumetric modulated arc therapy (VMAT) discretizes the angular space into equally spaced control points during planning and then optimizes the apertures and weights of the control points. The aperture at an angle in between two control points is obtained through interpolation. This approach tacitly ignores the differential need for intensity modulation of different angles. As such, multiple arcs are often required, which may oversample some angle(s) and undersample others. The purpose of this work is to develop a segmentally boosted VMAT scheme to eliminate the need for multiple arcs in VMAT treatment with improved dose distribution and/or delivery efficiency.

Methods:

The essence of the new treatment scheme is how to identify the need of individual angles for intensity modulation and to provide the necessary beam intensity modulation for those beam angles that need it. We introduce a “demand metric” at each control point to decide which station or control points need intensity modulation. To boost the modulation at selected stations, additional segments are added in the vicinity of the selected stations. The added segments are then optimized together with the original set of station or control points as a whole. The authors apply the segmentally boosted planning technique to four previously treated clinical cases: two head and neck (HN) cases, one prostate case, and one liver case. The proposed planning technique is compared with conventional one‐arc and two‐arc VMAT.

Results:

The proposed segmentally boosted VMAT technique achieves better critical structure sparing than one‐arc VMAT with similar or better target coverage in all four clinical cases. The segmentally boosted VMAT also outperforms two‐arc VMAT for the two complicated HN cases, yet with ∼30% reduction in the machine monitor units (MUs) relative to two‐arc VMAT, which leads to less leakage/scatter dose to the patient and can potentially translate into faster dose delivery. For the less challenging prostate and liver cases, similar critical structure sparing as the two‐arc VMAT plans was obtained using the segmentally boosted VMAT. The benefit for the two simpler cases is the reduction of MUs and improvement of treatment delivery efficiency.

Conclusions:

Segmentally boosted VMAT achieves better dose conformality and/or reduced MUs through effective consideration of the need of individual beam angles for intensity modulation. Elimination of the need for multiple arcs in rotational arc therapy while improving the dose distribution should lead to improved workflow and treatment efficacy, thus may have significant implication to radiation oncology practice.
Strong Light-Matter Interactions in Heterostructures of Atomically Thin Films
Authors: Britnell L. , Ribeiro R. M. , Eckmann A. , Jalil R. , Belle B. D. , Mishchenko A. , Kim Y.-J. , Gorbachev R. V. , Georgiou T. , Morozov S. V. , Grigorenko A. N. , Geim A. K. , Casiraghi C. , Neto A. H. Castro , Novoselov K. S.
Published: May 2013

Atomic Layer Heterostructures—More Is More

The isolation of stable layers of various materials, only an atom or several atoms thick, has provided the opportunity to fabricate devices with novel functionality and to probe fundamental physics.

Britnell
et al.

(p.
1311
, published online 2 May; see the Perspective by

Hamm and Hess

) sandwiched a single layer of the transition metal dichalcogenide WS
2
between two sheets of graphene. The photocurrent response of the heterostructure device was enhanced, compared to that of the bare layer of WS
2
. The prospect of combining single or several-atom-thick layers into heterostructures should help to develop materials with a wide range of properties.
Draft Genome Sequence of Meiothermus ruber H328, Which Degrades Chicken Feathers, and Identification of Proteases and Peptidases Responsible for Degradation
Authors: Inada Shuhei , Watanabe Kunihiko
Published: May 2013

Meiothermus ruber
H328 was isolated from Arima Hot Springs, Kobe, Japan, as a moderate thermophile. It has a strong ability to degrade intact chicken feathers. The enzymatic mechanism of the strain for feather degradation is unclear. The draft genome suggests potent enzyme candidates for degradation of keratin, a hard-to-degrade protein found in feathers.
Genome Sequence of Stenotrophomonas maltophilia Strain AU12-09, Isolated from an Intravascular Catheter
Authors: Zhang Li , Morrison Mark , Ó Cuív Páraic , Evans Paul , Rickard Claire M.
Published: May 2013

Stenotrophomonas maltophilia
is an opportunistic nosocomial pathogen that is characterized by its high-level intrinsic resistance to a variety of antibiotics and its ability to form biofilms. Here, we report the draft genome sequence of
Stenotrophomonas maltophilia
AU12-09, isolated from an intravascular catheter tip.
Intramural gas in stomach along with acute calculus cholecystitis: an unusual association
Authors: Naqvi Zohaib Gulzar , Shahzad Noman , Alvi Abdul Rehman , Effendi Shahrukh
Published: May 2013

Intramural gas in stomach is a rare finding, but differential diagnosis of this condition into gastric emphysema and emphysematous gastritis is clinically important because of vastly different aetiologies and prognosis. Emphysematous gastritis is caused by gas producing micro-organisms inside the stomach wall and is a potentially fatal condition, while, on the other hand, gas enters stomach wall through mucosal breach in the case of gastric emphysema and prognosis is usually good with complete resolution. To date, no case has been reported in the literature showing gas in the stomach wall in a patient with acute calculus cholecystitis. We present a case of a young man with upper abdominal pain, and who, upon diagnostic work up was diagnosed with acute calculus cholecystitis with associated intramural gas in the stomach with no known aetiological factors to be positive. Conservative management with close observation resulted in complete symptomatic resolution.
Neuropsychiatric side effects of cyclobenzaprine
Authors: Shprecher David , Sloan Colgan T , Sederholm Benson
Published: May 2013

Cyclobenzaprine is commonly used as a muscle relaxant and analgesic. Given its tricyclic properties, serotonin syndrome is a potential side effect of this drug. We report an unusual case of a patient who experienced symptoms of delirium and hyperkinetic movement disorders shortly after initiating treatment with cyclobenzaprine and oxycodone. Symptoms resolved within 48 h of discontinuing cyclobenzaprine. This case serves to remind clinicians to monitor for serotonin syndrome when initiating cyclobenzaprine, and when adding opiate or antidepressant medications to the regimen.
Mucormycosis: an atrocious mate of patients with diabetes
Authors: Ananthaneni Anu Radha , Undavalli Suresh Babu , Velagapudi Ram Prasad , Guduru Vijay Srinivas
Published: May 2013

Mucormycosis also called zygomycosis is a rare infection caused by saprophytic aerobic fungus that belongs to a group of fungi called Mucoromycotina in the order Mucorales. Earlier these fungi were called Zygomycota but this scientific name has recently been changed. Mucormycosis can result in an acute, rapidly advancing and occasionally fatal disease caused by different fungi typically found in the soil and in association with decaying organic matter such as leaves, compost piles or rotten wood. These fungal infections are relatively infrequent; however, they occur in individuals who are debilitated in some major way and occasionally in groups of people with multiple penetrating injuries that are contaminated with soil and water from the environment. Mucormycosis is not contagious and does not spread from person to person.
Postoperative pulmonary calcification in a child with truncus arteriosus
Authors: Morrison Margaret Louise , Casey Frank , Paterson Annie , Shields Mike
Published: May 2013

Pulmonary calcification is uncommon in children. It is rarely described following cardiac surgery. Here, the authors describe the case of an infant who developed extensive pulmonary calcification following the repair of truncus arteriosus.