bluuebunny/crossref_metadata_2025 huggingface dataset:
Difference‐ratio‐based NDGM interpolation forecasting algorithm and its application
Authors: Zhu Chaoyu , Xie Naiming
Published: January 2012

Purpose

The purpose of this paper is to propose a model for effective data filling and precise prediction, which is used to solve the prediction problem of sequential data with the characteristics of poor information, high growth and containing extraordinary points.

Design/methodology/approach

After proving that the three principles of smooth sequence are not a sufficient condition for the judgement of sequence smoothness, judgement rules for sequence smoothness based on smoothness efficiency is introduced. Based on the non‐homogenous discrete grey model (NDGM) model which fits for high growth sequence, model error caused by equal weight mean value is analyzed, and mean value generation weight efficiency is optimized by the method of differential. Prediction steps that fit sequences with high growth, poor information and containing extraordinary points is established on the basis of equal weight mean value generation efficiency.

Findings

The results are convincing: previous judgement rules used for sequence smoothness do not fit for the high growth sequence, new judgement rules introduced are more effective for high growth sequence. Sequence filling algorithm based on differential ration not only improve the filling of high growth sequence, but also enhance the prediction precision of these sequences.

Practical implications

The method exposed in the paper can be used to solve the prediction problem of sequences with poor information, high growth and containing extraordinary points, and it was proved in the cases of large and medium company new products income and Ufida Software Company. What is more, the method is also helpful in aspects of corporate financial control and strategy‐making process.

Originality/value

The paper succeeds in proposing a new interpolation algorithm that is superior to ordinary mean value generation method in the aspects of generation and prediction and to grey interpolation algorithm in the aspect of information volume by defining sequence smoothness efficiency and introducing smoothness judgement rules that are easy to compute and fits for high growth sequence and not limited to monotonicity sequence.
The PAS‐ADD assessments and their continuing conceptual development
Authors: Moss Steve
Published: January 2012

Purpose

The PAS‐ADD assessments (Psychiatric Assessment Schedules for Adults with Developmental Disabilities) have their origins in work that was being conducted over 20 years ago on the health status of older people with intellectual disability. Since that time, the assessments have undergone continuous development and refinement, and now encompass children as well as adults. This paper seeks to discuss some of these fundamental issues and how the PAS‐ADD instruments have attempted to meet these challenges.

Design/methodology/approach

The paper includes discussion of theoretical and practical issues that have shaped the development of the assessments.

Findings

The fundamental aim of the modern PAS‐ADD system is to improve case detection and assessment by supporting and enhancing the skills of clinical staff, rather than attempting to replace the need for those skills. The assessor makes the final judgement about diagnosis. The PAS‐ADD assessments are based on existing psychiatric classification rules for the general population and are conceptually different from instruments derived from psychometric principles. These factors have major implications, both for instrument design and for the evaluation of effectiveness.

Originality/value

The PAS‐ADD assessments have become widely used in the field of intellectual disability mental health. The theoretical issues discussed here are a central part of the ongoing effort to understand and improve the mental health of people with intellectual disabilities.
Using service user and clinical opinion to develop the SAINT: a guided self‐help pack for adults with intellectual disability
Authors: Chaplin Eddie , Craig Tom , Bouras Nick
Published: January 2012

Purpose

In spite of the greater prevalence of mental ill‐health in people with intellectual disabilities, there has been little work specifically aimed at how this group recognise threats to their mental health and the strategies used to minimise them. This study aims to look at the first stage of development of a guided self‐help (GSH) pack called the Self Assessment and INTervention pack (SAINT).

Design/methodology/approach

Delphi methods and focus groups were employed to gather opinions from two expert groups: professionals or clinical experts (ranged N=15‐33); and service users (n=9), to inform the contents of the SAINT. The Delphi was conducted by e‐mail. Results from each round were shared between the two groups to develop a consensus.

Findings

Retention rates for clinical experts were 45.45 per cent, during the Delphi and 100 per cent for the service user experts in the focus groups. Both groups were able to reach a consensus of the items that would make up the SAINT. Delphi methods combined with focus groups were able generate the contents of the SAINT and demonstrated versatility in this dual approach by being able to gain a consensus from both groups.

Research limitations/implications

There is no consensus as to how many people are ideal for a Delphi. Although the final number in round 3 was low, it can be argued that those remaining had most interest in the subject.

Practical implications

The aim is to produce and pilot the SAINT, a GSH package for people with intellectual disabilities, following reliability and validity testing.

Social implications

Currently GSH is widely used for mild depression in Primary Care and other disorders such as mild anxiety, obsessive compulsive disorder, and other related conditions. However, there are no specific GSH packages for people with intellectual disabilities. Currently the GSH tools that are available are not designed for people with cognitive impairments and do not reflect the lifestyles of many people with intellectual disabilities.

Originality/value

This paper should be of value to anyone with an interest in supporting people with intellectual disabilities to recognise and manage specific symptoms or feelings that threaten the person's mental well being.
Improving health and lives: The Learning Disabilities Public Health Observatory
Authors: Emerson Eric , Glover Gyles , Turner Sue , Greig Rob , Hatton Chris , Baines Susannah , Copeland Alison , Evison Felicity , Roberts Hazel , Robertson Janet , Welch Victoria
Published: January 2012

Purpose

The purpose of this paper is to describe the first 15 months of operation of an innovative specialist national public health observatory for intellectual disability.

Design/methodology/approach

The paper provides a narrative account of aims and achievements of the service.

Findings

In the first 15 months of operation the observatory has: made available to those involved in commissioning health and social care services, a wealth of information on the health needs of people with intellectual disabilities; identified specific improvements that could viably be made to increase the quality of future information; and begun working with local agencies to support them in making the best use of the available information.

Originality/value

People with intellectual disabilities experience significant health inequalities. This paper describes an innovative approach to helping local agencies make the best use of available information in order to commission services that may reduce these inequalities.
Knowledge of mental capacity issues in residential services for people with intellectual disabilities
Authors: Willner Paul , Bridle Jennifer , Price Vaughn , John Elinor , Hunt Sarah
Published: January 2012

Purpose

An earlier study of health and social services professionals in community teams for people with intellectual disabilities (CTIDs) identified a number of significant gaps in their knowledge of mental capacity issues. The present study aims to ascertain the knowledge of staff working in residential services for people with intellectual disabilities.

Design/methodology/approach

Participants were staff working in three specialist residential settings catering to people with intellectual disabilities: qualified nurses working in the UK National Health Service (NHS) and in independent‐sector continuing health care settings; and senior staff in residential houses. They were administered the same structured interview as in the earlier study, which was constructed around three scenarios concerning a financial/legal issue, a health issue, and a relationships issue, as well as a set of ten “true/false” statements. Their performance was compared with that of two reference groups, the earlier CTID participants, and a group of staff working in generic (i.e. other than specialist intellectual disability) NHS services.

Findings

No differences in interview performance were found between the three groups of residential carers, who performed better than generic NHS staff but worse than CTID professionals. However, the three residential groups did differ in their self‐ratings of how well‐informed and confident they felt in relation to mental capacity issues.

Originality/value

The study shows that staff working in residential services for people with intellectual disabilities have only a limited understanding of mental capacity issues and their confidence in their own knowledge may not be a good guide to their ability to deal with such issues when they arise in practice.
Effects of prolonged breastfeeding and colostrum fatty acids on allergic manifestations and infections in infancy
Authors: Morales E. , García‐Esteban R. , Guxens M. , Guerra S. , Mendez M. , Moltó‐Puigmartí C. , Lopez‐Sabater M. C. , Sunyer J.
Published: January 2012

Background

In developed countries World Health Organization recommendation of 6 months’ exclusive breastfeeding is under debate.

Objective

We assessed the impact of predominant breastfeeding (PBF) duration and colostrum long‐chain polyunsaturated fatty acids (LC‐PUFAs) profile on the risk of allergic manifestations (wheezing and atopic eczema) and infections [low respiratory tract infections (LRTIs) and gastroenteritis] in infancy.

Methods

Information on child feeding practices was obtained from 580 infants of a pregnancy cohort. Presence of infant's health outcomes was documented through questionnaires at 6 and 14 months of age. The LC‐PUFAs were measured in colostrum. Adjusted odds ratios (adjOR) and 95% confidence intervals (CI) were estimated using multivariable logistic regression models.

Results

In comparison with never breastfeeding, PBF for 4–6 months was associated with lower risk of wheezing (adjOR = 0.53; 95% CI, 0.32, 0.89), LRTIs (adjOR = 0.51; 95% CI, 0.31, 0.83) and atopic eczema (adjOR = 0.58; 95% CI, 0.32, 1.04) between months 7 and 14 of life. Results of a risk period‐specific analysis (restricted to infants at risk for outcome onset after 6 months of age), showed no indication for reverse causation (results were not very different compared with an overall analysis). Predominantly breastfeeding for 4–6 months was associated with lower risk of gastroenteritis during the first 6 months of life (adjOR = 0.34; 95% CI, 0.18, 0.64). Among breastfed infants higher doses of arachidonic acid (AA), docosahexaenoic acid, and total n‐3 in were associated with a decreased risk of gastroenteritis, but no association was found for allergic manifestations or LRTI.

Conclusions and Clinical Relevance

Promotion of PBF for 4–6 months could reduce the burden of allergic manifestations and infections in infancy. Beneficial effects of breastfeeding on gastroenteritis were explained in part by exposure to higher doses of n‐3 and AA received from colostrum. No significant effects from fatty acid dose were found on risk of allergic manifestations or LRTIs.
Climate‐sensitive ecosystem carbon dynamics along the soil chronosequence of the Damma glacier forefield, Switzerland
Authors: Smittenberg Rienk H. , Gierga Merle , Göransson Hans , Christl Iso , Farinotti Daniel , Bernasconi Stefano M.
Published: January 2012

We performed a detailed study on the carbon build‐up over the 140‐year‐long chronosequence of the Damma glacier forefield, Switzerland, to gain insights into the organic carbon dynamics during the initial stage of soil formation and ecosystem development. We determined soil carbon and nitrogen contents and their stable isotopic compositions, as well as molecular‐level composition of the bulk soils, and recalcitrance parameters of carbon in different fractions. The chronosequence was divided into three age groups, separated by small end moraines that resulted from two glacier re‐advances. The net ecosystem carbon balance (NECB) showed an exponential increase over the last decades, with mean annual values that range from 100 g C m−2 yr−1 in the youngest part to over 300 g C m−2 yr−1 in a 60–80 years old part. However, over the entire 140‐year chronosequence, the NECB is only 20 g C m−2 yr−1, similar to results of other glacier forefield studies. The difference between the short‐ and long‐term NECB appears to be caused by reductions in ecosystem carbon (EC) accumulation during periods with a colder climate. We propose that two complementary mechanisms have been responsible: 1) Reductions in net primary productivity down to 50% below the long‐term mean, which we estimated using reconstructed effective temperature sums. 2) Disturbance of sites near the terminus of the re‐advanced glacier front. Stabilization of soil organic matter appeared to play only a minor role in the coarse‐grained forefield. We conclude that the forefield ecosystem, especially primary productivity, reacts rapidly to climate changes. The EC gained at warm periods is easily lost again in a cooling climate. Our conclusions may also be valid for other high mountain ecosystems and possibly arctic ecosystems.
Parapatric species and the implications for climate change studies: a case study on hares in Europe
Authors: Acevedo Pelayo , Jiménez‐Valverde Alberto , Melo‐Ferreira José , Real Raimundo , Alves Paulo Célio
Published: January 2012

Parapatry is a biogeographical term used to refer to organisms whose ranges do not overlap, but are immediately adjacent to each other; they only co‐occur – if at all – in a narrow contact zone. Often there are no environmental barriers in the contact zones, hence competitive interaction is usually advocated as the factor that modulates species distribution ranges. Even though the effects of climate change on species distribution have been widely studied, few studies have explored these effects on the biogeographical relationships between closely related, parapatric, species. We modelled environmental favourability for three parapatric hare species in Europe – Lepus granatensis, L. europaeus and L. timidus – using ecogeographical variables and projected the models into the future according to the IPCC A2 emissions scenario. Favourabilities for present and future scenarios were combined using fuzzy logic with the following aims: (i) to determine the biogeographical relationships between hare species in parapatry, that is L. granatensis/L. europaeus and L. europaeus/L. timidus and (ii) to assess the effects of climate change on each species as well as on their interspecific interactions. In their contact area L. granatensis achieved higher favourability values than L. europaeus, suggesting that if both species have a similar population status, the former species may have some advantages over the latter if competitive relationships are established. Climate change had the most striking effect on the distribution of L. timidus, especially when interspecific interactions with L. europaeus were taken into account, which may compromise the co‐existence of L. timidus. The results of this study are relevant not only for understanding the distribution patterns of the hares studied and the effects of climate change on these patterns, but also for improving the general application of species distribution models to the prediction of the effects of climate change on biodiversity.
A decade of climate change experiments on marine organisms: procedures, patterns and problems
Authors: Wernberg Thomas , Smale Dan A. , Thomsen Mads S.
Published: January 2012

The first decade of the new millennium saw a flurry of experiments to establish a mechanistic understanding of how climate change might transform the global biota, including marine organisms. However, the biophysical properties of the marine environment impose challenges to experiments, which can weaken their inference space. To facilitate strengthening the experimental evidence for possible ecological consequences of climate change, we reviewed the physical, biological and procedural scope of 110 marine climate change experiments published between 2000 and 2009. We found that 65% of these experiments only tested a single climate change factor (warming or acidification), 54% targeted temperate organisms, 58% were restricted to a single species and 73% to benthic invertebrates. In addition, 49% of the reviewed experiments had issues with the experimental design, principally related to replication of the main test‐factors (temperature or pH), and only 11% included field assessments of processes or associated patterns. Guiding future research by this inventory of current strengths and weaknesses will expand the overall inference space of marine climate change experiments. Specifically, increased effort is required in five areas: (i) the combined effects of concurrent climate and non‐climate stressors; (ii) responses of a broader range of species, particularly from tropical and polar regions as well as primary producers, pelagic invertebrates, and fish; (iii) species interactions and responses of species assemblages, (iv) reducing pseudo‐replication in controlled experiments; and (v) increasing realism in experiments through broad‐scale observations and field experiments. Attention in these areas will improve the generality and accuracy of our understanding of climate change as a driver of biological change in marine ecosystems.
Variation in soil carbon stocks and their determinants across a precipitation gradient in West Africa
Authors: Saiz Gustavo , Bird Michael I. , Domingues Tomas , Schrodt Franziska , Schwarz Michael , Feldpausch Ted R. , Veenendaal Elmar , Djagbletey Gloria , Hien Fidele , Compaore Halidou , Diallo Adama , Lloyd Jon
Published: January 2012

We examine the influence of climate, soil properties and vegetation characteristics on soil organic carbon (SOC) along a transect of West African ecosystems sampled across a precipitation gradient on contrasting soil types stretching from Ghana (15°N) to Mali (7°N). Our findings derive from a total of 1108 soil cores sampled over 14 permanent plots. The observed pattern in SOC stocks reflects the very different climatic conditions and contrasting soil properties existing along the latitudinal transect. The combined effects of these factors strongly influence vegetation structure. SOC stocks in the first 2 m of soil ranged from 20 Mg C ha−1 for a Sahelian savanna in Mali to over 120 Mg C ha−1 for a transitional forest in Ghana. The degree of interdependence between soil bulk density (SBD) and soil properties is highlighted by the strong negative relationships observed between SBD and SOC (r2 > 0.84). A simple predictive function capable of encompassing the effect of climate, soil properties and vegetation type on SOC stocks showed that available water and sand content taken together could explain 0.84 and 0.86 of the total variability in SOC stocks observed to 0.3 and 1.0 m depth respectively. Used in combination with a suitable climatic parameter, sand content is a good predictor of SOC stored in highly weathered dry tropical ecosystems with arguably less confounding effects than provided by clay content. There was an increased contribution of resistant SOC to the total SOC pool for lower rainfall soils, this likely being the result of more frequent fire events in the grassier savannas of the more arid regions. This work provides new insights into the mechanisms determining the distribution of carbon storage in tropical soils and should contribute significantly to the development of robust predictive models of biogeochemical cycling and vegetation dynamics in tropical regions.
Maternal HBsAg status and infant size – a Faustian bargain?
Authors: Lao T. T. , Sahota D. S. , Suen S. S. H. , Law L. W. , Leung T. Y.
Published: January 2012

Summary.  Information on the impact of maternal hepatitis B virus (HBV) infection on pregnancy outcome is conflicting. Some studies reported an association with increased infant birthweight, which could be interpreted as advantageous to pregnancy. A retrospective study was performed to compare birthweight outcome between 6261 and 55 817 singleton pregnancies in mothers screened positive and negative for hepatitis B surface antigen (HBsAg), respectively. The HBsAg positive women were younger, had higher body mass index (BMI) and incidence of overweight, but less gestational weight gain, and were associated with increased macrosomia (birthweight ≥4000 g) in mothers <35 years (odds ratio, OR, 1.28), BMI ≥25 kg/m2 (OR 1.24), without gestational diabetes mellitus (GDM, OR 1.19), and in male infants (OR 1.18). It was also associated with increased large‐for‐gestational age (LGA, birthweight >90th percentile) infants in nulliparas (OR 1.13), age <35 years (OR 1.12), BMI ≥25 kg/m2 (OR 1.19), with (OR 1.36) and without (OR 1.09) GDM, and in male infants (OR 1.13). When the effects of high BMI, advanced age, GDM, and male infants were controlled for, positive HBsAg was significantly associated with macrosomic (adjusted odds ratio, aOR, 1.15) and LGA (aOR 1.11) infants. In view of the latest findings on the association between high infant birthweight with increased risk of obesity, diabetes mellitus, and various forms of malignancies from childhood to adulthood, further studies are warranted to determine if maternal hepatitis B infection would impact adversely on the long‐term health of the offspring through its effect on increasing birthweight.
Hepatocellular carcinoma screening practices and impact on survival among hepatitis B‐infected Asian Americans
Authors: Sarkar M. , Stewart S. , Yu A. , Chen M. S. , Nguyen T. T. , Khalili M.
Published: January 2012

Summary.  Asians Americans have a high burden of hepatitis B virus (HBV) associated hepatocellular carcinoma (HCC). HCC screening practices in this population are unknown. We aimed to investigate predictors and patterns of HCC screening and its impact on survival in HBV‐infected Asian Americans. Clinical data were obtained from a retrospective cohort of 1870 HBsAg‐positive Asians in San Francisco’s safety net clinics. In 824 patients at‐risk for HCC, screening (≥1 imaging and/or AFP per year) decreased from 67% to 47% to 24% from the 1st to 2nd to 10th year after HBV diagnosis, respectively. AFP, imaging, and imaging plus AFP were used in 37%, 14%, and 49% during the first year after diagnosis, and imaging plus AFP increased to 64% by the 10th year. Among 1431 patients followed in 2007, age 40–64 years, female gender, cirrhosis, hepatologist evaluation, HBV diagnosis after 2003, and testing for HBeAg were associated with HCC screening. Of the 51 patients with HCC, more cirrhotics received screening and were diagnosed with early stage disease. Median survival following HCC diagnosis was higher in screened patients (1624 days vs. 111 days, P = 0.02). MELD score at HCC diagnosis (HR 1.2, 95% CI 1.1–1.3) and receipt of curative therapy (HR 0.3, 95% CI 0.08–0.94) were associated with survival. Screening rates in at‐risk Asian Americans, particularly among noncirrhotics, were suboptimal and decreased over time. Among patients with HCC, receipt of prior screening improved survival, and this survival benefit was related to better liver function at HCC diagnosis and receipt of curative therapy.
Genetic polymorphism in cyclooxygenase‐2 promoter affects hepatic inflammation and fibrosis in patients with chronic hepatitis C
Authors: Miyashita Miyuki , Ito Takayoshi , Sakaki Masashi , Kajiwara Atsushi , Nozawa Hisako , Hiroishi Kazumasa , Kobayashi Mariko , Kumada Hiromitsu , Imawari Michio
Published: January 2012

Summary.  Cyclooxygenase (COX)‐2 is involved in inflammation, anti‐apoptosis and carcinogenesis. The ‐1195GG genotype of single nucleotide polymorphism (SNP) in COX‐2 promoter was associated with low platelet counts in patients with chronic hepatitis C. Polymorphism of patatin‐like phospholipase domain‐containing protein 3 (PNPLA3) gene (rs738409 C>G) have been reported to be associated with cirrhosis, and the major genotype of SNPs near interleukin (IL)28B are related to viral clearance. The present study was designed to assess the contribution of these SNPs to disease progression in patients with chronic hepatitis C. The study enrolled 220 Japanese patients with chronic hepatitis C. Three SNPs, ‐1195 COX‐2, PNPLA3 and IL28B (rs8099917), were genotyped in order to analyze their association with hepatic fibrosis and inflammation. The ‐1195GG genotype in COX‐2 was associated with advanced fibrosis and higher levels of inflammation in the liver tissues. The major genotype of IL28B was also associated with advanced fibrosis, but the polymorphism of PNPLA3 was neither associated with fibrosis nor inflammation. Multivariate analysis showed that ‐1195GG in COX‐2 is an independent factor associated with advanced fibrosis, while the major genotype of IL28B and HCV genotype 2 were other independent factors. In conclusion, the ‐1195GG genotype in COX‐2 is a genetic marker for liver disease progression, while the PNPLA3 genotypes are not associated with disease progression in Japanese patients with chronic hepatitis C.
Geothermal reservoir characterization: a thermofacies concept
Authors: Sass Ingo , Götz Annette E.
Published: January 2012

Terra Nova, 24, 142–147, 2012

The thermofacies concept is based on new measurements of about 11 000 plug samples drilled from sedimentary rocks and investigated at TU Darmstadt from 2007 to 2011. Some hundred representative thin sections were analysed for facies interpretation. The thermofacies concept was developed for low and mid enthalpy geothermal systems linked to graben settings and deep sedimentary basins located in Central Europe. The understanding of the spatio‐temporal development of sedimentary facies within a specific geothermal exploration area may contribute to establish integrated structural 3D reservoir models. Thus, thermofacies – the facies dependence of geothermal parameters – become a key feature for reservoir prognosis, reservoir stimulation and efficient reservoir utilization.
Feedback inhibition by thiols outranks glutathione depletion: a luciferase‐based screen reveals glutathione‐deficient γ‐ECS and glutathione synthetase mutants impaired in cadmium‐induced sulfate assimilation
Authors: Jobe Timothy O. , Sung Dong‐Yul , Akmakjian Garo , Pham Allis , Komives Elizabeth A. , Mendoza‐Cózatl David G. , Schroeder Julian I.
Published: January 2012

Plants exposed to heavy metals rapidly induce changes in gene expression that activate and enhance detoxification mechanisms, including toxic‐metal chelation and the scavenging of reactive oxygen species. However, the mechanisms mediating toxic heavy metal‐induced gene expression remain largely unknown. To genetically elucidate cadmium‐specific transcriptional responses in Arabidopsis, we designed a genetic screen based on the activation of a cadmium‐inducible reporter gene. Microarray studies identified a high‐affinity sulfate transporter (SULTR1;2) among the most robust and rapid cadmium‐inducible transcripts. The SULTR1;2 promoter (2.2 kb) was fused with the firefly luciferase reporter gene to quantitatively report the transcriptional response of plants exposed to cadmium. Stably transformed luciferase reporter lines were ethyl methanesulfonate (EMS) mutagenized, and stable M2 seedlings were screened for an abnormal luciferase response during exposure to cadmium. The screen identified non‐allelic mutant lines that fell into one of three categories: (i) super response to cadmium (SRC) mutants; (ii) constitutive response to cadmium (CRC) mutants; or (iii) non‐response and reduced response to cadmium (NRC) mutants. Two nrc mutants, nrc1 and nrc2, were mapped, cloned and further characterized. The nrc1 mutation was mapped to the γ‐glutamylcysteine synthetase gene and the nrc2 mutation was identified as the first viable recessive mutant allele in the glutathione synthetase gene. Moreover, genetic, HPLC mass spectrometry, and gene expression analysis of the nrc1 and nrc2 mutants, revealed that intracellular glutathione depletion alone would be insufficient to induce gene expression of sulfate uptake and assimilation mechanisms. Our results modify the glutathione‐depletion driven model for sulfate assimilation gene induction during cadmium stress, and suggest that an enhanced oxidative state and depletion of upstream thiols, in addition to glutathione depletion, are necessary to induce the transcription of sulfate assimilation genes during early cadmium stress.
A nested sequence‐specific primer‐polymerase chain reaction for the detection of HLA‐B*15:02
Authors: Virakul S. , Kupatawintu P. , Nakkuntod J. , Kangwanshiratada O. , Vilaivan T. , Hirankarn N.
Published: January 2012

In this study, we reported a new technique in detecting HLA‐B*15:02 by using a nested sequence‐specific primer‐polymerase chain reaction (SSP‐PCR) that can be used on genomic DNA and whole blood for carbamazepine hypersensitivity prediction. We tested a total of 200 blind samples with known human leukocyte antigen (HLA)‐B allelic types (44 positive for HLA‐B*15:02 and 156 negative for HLA‐B*15:02) with this new nested SSP‐PCR technique and compared its efficacy to that of commercial sequence‐specific oligonucleotide probe‐polymerase chain reaction (SSOP‐PCR). Using starting materials from DNA and whole blood, we were able to detect HLA‐B*15:02 in 44 of our samples correctly. The test is very sensitive and is highly reproducible.
Haplotype frequencies based on eight polymorphic sites at the 3′ untranslated region of the HLA‐G gene in individuals from two different geographical regions of Brazil
Authors: Lucena‐Silva N. , Monteiro A. R. , de Albuquerque R. S. , Gomes R. G. , Mendes‐Junior C. T. , Castelli E. C. , Donadi E. A.
Published: January 2012

The Brazilian population represents an admixture of native Amerindians, Portuguese settlers and Africans who were brought as slaves during the colonization period that began in the 16th century and was followed by waves of immigrations of Europeans and Asians in the 20th century. The contribution of these different ethnic groups to the constitution of Brazilian populations from different geographic regions is variable and, in addition to environmental factors, might act by determining different allele profiles among Brazilian populations from different regions. We studied polymorphic sites at the 3′ untranslated region of the HLA‐G gene in individuals from a Northeastern Brazilian region and compared them to our previously published data about a Southeastern Brazilian region, located at a distance of 2589 km. Our results showed that most polymorphic sites present a similar distribution in both populations, except for the lower frequency of the +3003C allele in the Northeastern population compared to the Southeastern population. Although differences in genotypic distribution were only significant for the +3003 locus (P = 0.0201), the diversity of haplotypes was distinct for each population. These results are important for case–control studies on the association of human leucocyte antigen‐G polymorphism with disease and also in terms of the genetic structure of two distinct Brazilian populations.
Scavenging of NADPH oxidase‐derived superoxide anions improves depressed baroreflex sensitivity in spontaneously hypertensive rats
Authors: Guimarães DD , Carvalho CC , Braga VA
Published: January 2012

In pathological conditions, such as hypertension, there is impairment in the autonomic control of blood pressure resulting in changes in baroreflex sensitivity. In the present study we tested the hypothesis that acute superoxide scavenging would restore the depressed baroreflex sensitivity (BRS) in spontaneously hypertensive rats (SHR).

Male 10‐week‐old SHR (n = 14) and their controls (Wistar‐Kyoto (WKY) rats; n = 14) underwent femoral artery and vein catheterization for conscious blood pressure recording and drug administration. The BRS was obtained by the drug‐induced method using phenylephrine (8 μg/kg, i.v.) and sodium nitroprusside (25 μg/kg, i.v.) before and after the administration of tiron (30 mg/kg, i.v.), a superoxide dismutase mimetic, or apocynin (30 μg/kg), an NADPH oxidase inhibitor.

Spontaneously hypertensive rats was significantly hypertensive compared with WKY rats (160 ± 7 vs 105 ± 2 mmHg, respectively). However, there was no significant difference in heart rate between the two groups (388 ± 10 vs 370 ± 20 b.p.m.). In addition, SHR exhibited a diminished BRS compared with WKY rats (−1.34 ± 0.11 vs −2.91 ± 0.20 b.p.m./mmHg, respectively). Administration of tiron improved BRS in SHR (from −1.34 ± 0.11 to 2.26 ± 0.21 b.p.m./mmHg), as did apocynin (to −2.14 ± 0.23 b.p.m./mmHg).

Serum samples from SHR (n = 20) and WKY rats (n = 20) were collected for thiobarbituric acid‐reactive substances assays before and after tiron or apocynin to confirm the reduction in oxidative stress. There was considerably greater oxidative stress in SHR compared with WKY rats (36.2 ± 3.0 vs 13.3 ± 2.6 nmol/L, respectively). Both apocynin and tiron treatment reduced the oxidative stress in SHR (from 36.2 ± 3.0 to 21.5 ± 3.0 nmol/L and from 37.2 ± 3.9 to 21.9 ± 1.6 nmol/L, respectively).

The data suggest that acute scavenging of NADPH oxidase‐derived superoxide improves baroreflex sensitivity in SHR.
Enhanced salt stress tolerance of rice plants expressing a vacuolar H+‐ATPase subunit c1 (SaVHAc1) gene from the halophyte grass Spartina alterniflora Löisel
Authors: Baisakh Niranjan , RamanaRao Mangu V. , Rajasekaran Kanniah , Subudhi Prasanta , Janda Jaroslav , Galbraith David , Vanier Cheryl , Pereira Andy
Published: January 2012

The physiological role of a vacuolar ATPase subunit c1 (SaVHAc1) from a halophyte grass Spartina alterniflora was studied through its expression in rice. The SaVHAc1‐expressing plants showed enhanced tolerance to salt stress than the wild‐type plants, mainly through adjustments in early stage and preparatory physiological responses. In addition to the increased accumulation of its own transcript, SaVHAc1 expression led to increased accumulation of messages of other native genes in rice, especially those involved in cation transport and ABA signalling. The SaVHAc1‐expressing plants maintained higher relative water content under salt stress through early stage closure of the leaf stoma and reduced stomata density. The increased K+/Na+ ratio and other cations established an ion homoeostasis in SaVHAc1‐expressing plants to protect the cytosol from toxic Na+ and thereby maintained higher chlorophyll retention than the WT plants under salt stress. Besides, the role of SaVHAc1 in cell wall expansion and maintenance of net photosynthesis was implicated by comparatively higher root and leaf growth and yield of rice expressing SaVHAc1 over WT under salt stress. The study indicated that the genes contributing toward natural variation in grass halophytes could be effectively manipulated for improving salt tolerance of field crops within related taxa.
Voxel‐based morphometry in patients with obsessive‐compulsive behaviors in behavioral variant frontotemporal dementia
Authors: Perry D. C. , Whitwell J. L. , Boeve B. F. , Pankratz V. S. , Knopman D. S. , Petersen R. C. , Jack C. R. , Josephs K. A.
Published: January 2012

Background and purpose:  Obsessions and compulsive (OC) behaviors are a frequent feature of behavioral variant frontotemporal dementia (bvFTD), but their structural correlates have not been definitively established.

Methods:  Patients with bvFTD presenting to the Mayo Clinic Alzheimer’s Disease Research Center were recruited. Each patient’s caregiver was given the Yale‐Brown Obsessive‐Compulsive scale (YBOCS) to document the type and presence of OC behaviors and to rate their severity. All subjects underwent standardized magnetic resonance imaging (MRI) that was evaluated using voxel‐based morphometry (VBM). Seventeen patients with bvFTD were recruited, and 11 were included in the study and compared with 11 age‐ and gender‐matched controls. Six were excluded for lack of MRI at the time of survey or a pre‐existing neurodegenerative condition.

Results:  Nine of the 11 reported OC behaviors, with the most frequent compulsions being checking, hoarding, ordering/arranging, repeating rituals, and cleaning. In the VBM analysis, total YBOCS score correlated with gray matter loss in the bilateral globus pallidus, left putamen, and in the lateral temporal lobe, particularly the left middle and inferior temporal gyri (P < 0.001 uncorrected for multiple comparisons).

Conclusions:  Obsessive‐compulsive behaviors were frequent among these patients. The correlation with basal ganglia atrophy may point to involvement of frontal subcortical neuronal networks. Left lateral temporal lobe volume loss probably reflects the number of MAPT mutation patients included but also provides additional data implicating temporal lobe involvement in OC behaviors.
Mitochondrial disease and epilepsy
Authors: RAHMAN SHAMIMA
Published: January 2012

Mitochondrial respiratory chain disorders are relatively common inborn errors of energy metabolism, with a combined prevalence of one in 5000. These disorders typically affect tissues with high energy requirements, and cerebral involvement occurs frequently in childhood, often manifesting in seizures. Mitochondrial diseases are genetically heterogeneous; to date, mutations have been reported in all 37 mitochondrially encoded genes and more than 80 nuclear genes. The major genetic causes of mitochondrial epilepsy are mitochondrial DNA mutations (including those typically associated with the mitochondrial encephalomyopathy, lactic acidosis, and stroke‐like episodes [MELAS] and myoclonic epilepsy with ragged red fibres [MERRF] syndromes); mutations in POLG (classically associated with Alpers syndrome but also presenting as the mitochondrial recessive ataxia syndrome [MIRAS], spinocerebellar ataxia with epilepsy [SCAE], and myoclonus, epilepsy, myopathy, sensory ataxia [MEMSA] syndromes in older individuals) and other disorders of mitochondrial DNA maintenance; complex I deficiency; disorders of coenzyme Q10 biosynthesis; and disorders of mitochondrial translation such as RARS2 mutations. It is not clear why some genetic defects, but not others, are particularly associated with seizures. Epilepsy may be the presenting feature of mitochondrial disease but is often part of a multisystem clinical presentation. Mitochondrial epilepsy may be very difficult to manage, and is often a poor prognostic feature. At present there are no curative treatments for mitochondrial disease. Individuals with mitochondrial epilepsy are frequently prescribed multiple anticonvulsants, and the role of vitamins and other nutritional supplements and the ketogenic diet remain unproven.
Brain development of very preterm and very low‐birthweight children in childhood and adolescence: a meta‐analysis
Authors: de KIEVIET JORRIT F , ZOETEBIER LYDIA , van ELBURG RUURD M , VERMEULEN R JEROEN , OOSTERLAAN JAAP
Published: January 2012

Aim  The aim of this article was to clarify the impact and consequences of very preterm birth (born <32wks of gestation) and/or very low birthweight ([VLBW], weighing <1500g) on brain volume development throughout childhood and adolescence.

Method  The computerized databases PubMed, Web of Knowledge, and EMBASE were searched for studies that reported volumetric outcomes during childhood or adolescence using magnetic resonance imaging and included a term‐born comparison group. Fifteen studies were identified, encompassing 818 very preterm/VLBW children and 450 term‐born peers. Average reductions in the total brain volume, white matter volume, grey matter volume, and in the size of the cerebellum, hippocampus, and corpus callosum were investigated using meta‐analytic methods.

Results  Very preterm/VLBW children were found to have a significantly smaller total brain volume than the comparison group (d=−0.58; 95% confidence interval [CI] −0.43 to −0.73; p<0.001), smaller white matter volume (d=−0.53; CI −0.40 to −0.67; p<0.001), smaller grey matter volume (d=−0.62; CI −0.48 to −0.76; p<0.001), smaller cerebellum (d=−0.74; CI −0.56 to −0.92; p<0.001), smaller hippocampus (d=−0.47; CI −0.26 to −0.69; p<0.001), and smaller corpus callosum (d=−0.71; CI −0.34 to −1.07; p<0.001). Reductions have been associated with decreased general cognitive functioning, and no relations with age at assessment were found.

Interpretation  Very preterm/VLBW birth is associated with an overall reduction in brain volume, which becomes evident in equally sized reductions in white and grey matter volumes, as well as in volumes of diverse brain structures throughout childhood and adolescence.
Paroxysmal non‐epileptic motor events in childhood: a clinical and video‐EEG–polymyographic study
Authors: CANAVESE CARLOTTA , CANAFOGLIA LAURA , COSTA CATERINA , ZIBORDI FEDERICA , ZORZI GIOVANNA , BINELLI SIMONA , FRANCESCHETTI SILVANA , NARDOCCI NARDO
Published: January 2012

Aim The aim of this article was to describe the phenomenology and polymyographic features of paroxysmal non‐epileptic motor events (PNMEs) observed in a series of typically developing and children with neurological impairment.

Method We conducted a retrospective evaluation of 63 individuals (29 females; 34 males) affected by PNMEs at the National Neurological Institute ‘C. Besta’ between 2006 and 2008. Individuals were included in the study if they had PNMEs documented by a video‐electroencephalography–polymyographic study and were aged between 1 month and 18 years (mean age at the time of video‐electroencephalography–polymyography: 5y 10mo).

Results In 45 of the 63 participants (71%), PNMEs were associated with other neurological conditions (secondary) including epilepsy, whereas in 18 participants PNME was the only neurological symptom (primary). Clinical features allowed classification of the motor disturbance into usual movement disorder categories in 31 individuals (49%); in the remaining 32 (51%), the movement disorder was characterized on the basis of polymyographic pattern of ‘jerks’ or ‘sustained contraction’. The most frequent PNMEs were paroxysmal dyskinesias, followed by startle, stereotypies, shuddering, sleep myoclonus, psychogenic movement disorders, and benign myoclonus of early infancy; the last syndrome was also observed in children with neurological impairment. In eight participants, PNMEs remained unclassified.

Interpretation PNMEs may occur in both healthy and children with neurological impairment and are caused by a wide range of static and progressive conditions. In the majority of children with neurological impairment with associated epilepsy, the PNMEs do not fit into the usual movement disorders categories. A video‐electroencephalography–polymyography is therefore useful for characterizing them.
Designing occupancy surveys and interpreting non‐detection when observations are imperfect
Authors: Wintle Brendan A. , Walshe Terry V. , Parris Kirsten M. , McCarthy Michael A.
Published: January 2012

Aim  Conservation practitioners use biological surveys to ascertain whether or not a site is occupied by a particular species. Widely used statistical methods estimate the probability that a species will be detected in a survey of an occupied site. However, these estimates of detection probability are alone not sufficient to calculate the probability that a species is present given that it was not detected. The aim of this paper is to demonstrate methods for correctly calculating (1) the probability a species occupies a site given one or more non‐detections, and (2) the number of sequential non‐detections necessary to assert, with a pre‐specified confidence, that a species is absent from a site.

Location  Occupancy data for a tree frog in eastern Australia serve to illustrate methods that may be applied anywhere species’ occupancy data are used and detection probabilities are < 1.

Methods  Building on Bayesian expressions for the probability that a site is occupied by a species when it is not detected, and the number of non‐detections necessary to assert absence with a pre‐specified confidence, we estimate occupancy probabilities across tree frog survey locations, drawing on information about where and when the species was detected during surveys.

Results  We show that the number of sequential non‐detections necessary to assert that a species is absent increases nonlinearly with the prior probability of occupancy, the probability of detection if present, and the desired level of confidence about absence.

Main conclusions  If used more widely, the Bayesian analytical approaches illustrated here would improve collection and interpretation of biological survey data, providing a coherent way to incorporate detection probability estimates in the design of minimum survey requirements for monitoring, impact assessment and distribution modelling.
How biotic interactions may alter future predictions of species distributions: future threats to the persistence of the arctic fox in Fennoscandia
Authors: Hof Anouschka R. , Jansson Roland , Nilsson Christer
Published: January 2012

Aim With climate change, reliable predictions of future species geographic distributions are becoming increasingly important for the design of appropriate conservation measures. Species distribution models (SDMs) are widely used to predict geographic range shifts in response to climate change. However, because species communities are likely to change with the climate, accounting for biotic interactions is imperative. A shortcoming of introducing biotic interactions in SDMs is the assumption that biotic interactions remain the same under changing climatic factors, which is disputable. We explore the performance of SDMs while including biotic interactions.

Location Fennoscandia, Europe.

Methods We investigate the appropriateness of the inclusion of biotic factors (predator pressure and prey availability) in assessing the future distribution of the arctic fox (Alopex lagopus) in Fennoscandia by means of SDM, using the algorithm MaxEnt.

Results Our results show that the inclusion of biotic interactions enhanced the accuracy of SDMs to predict the current arctic fox distribution, and we argue that the accuracy of future predictions might also be enhanced. While the range of the arctic fox is predicted to have decreased by 43% in 2080 because of temperature‐related variables, projected increases in predator pressure and reduced prey availability are predicted to constrain the potential future geographic range of the arctic fox in Fennoscandia 13% more.

Main conclusions The results indicate that, provided one has a good knowledge of past changes and a clear understanding of interactions in the community involved, the inclusion of biotic interactions in modelling future geographic ranges of species increases the predictive power of such models. This likely has far‐reaching impacts upon the design and implementation of possible conservation and management plans. Control of competing predators and supplementary feeding are suggested as necessary management actions to preserve the Fennoscandian arctic fox population in the face of climate change.