bluuebunny/crossref_metadata_2025_split huggingface dataset:
Disease Resistance Against a Broad-Host-Range Pathogen
Authors: Jacobs Jonathan M. , Allen Caitilyn 
Published: January 2014

The bacterial wilt pathogen Ralstonia solanacearum causes major agricultural losses on many crop hosts worldwide. Resistance breeding is the best way to control bacterial wilt disease, but the biological basis for bacterial wilt resistance is unknown. We found that R. solanacearum uses an AvrE-family, Type III-secreted effector called PopS to overcome plant defenses and cause disease on tomato. Orthologs of PopS are widely conserved across distinct classes of plant pathogenic bacteria and could provide novel, durable targets for resistance. Accepted for publication 25 September 2013. Published 25 November 2013.
Awareness and effectiveness of quality function deployment (QFD) in design and build projects in Nigeria
Authors: John Romeo , Smith Andrew , Chotipanich Sarich , Pitt Michael 
Published: January 2014

Purpose
– Quality function deployment (QFD) is a method for structured product planning and development that enables a development team to specify clearly the wants and needs of customers. This method has been successfully employed in the construction industry in developed countries. However, the benefits of QFD have not been practically realised in developing countries such as Nigeria. Hence, this research aims to investigate the awareness and effectiveness of QFD as a quality control technique that enhances the satisfaction of clients in terms of quality, cost and project delivery time in design and build projects.

Design/methodology/approach
– A qualitative and quantitative research approach in the form of in-depth telephone interviews and questionnaires was used to obtain the views of construction professionals such as civil engineers, architects, project managers, chief executive officers and trades people involved in design and build projects in the Nigerian construction industry, as well as 50 clients to ascertain the level of satisfaction derived from these design and build projects.

Findings
– The results of this research are derived from statistical analysis and show that there is currently little awareness of QFD within the Nigerian construction industry or its potential effectiveness in design and build projects.

Originality/value
– There has been little previous research into the use of QFD in the Nigerian construction industry, hence this paper provides insight but also highlights the need for further research.
Soil seed bank in a patchy vegetation of coastal sandy plains in southeastern Brazil
Authors: Braz Maria Isabel Guedes , Rodin Patricia , de Mattos Eduardo Arcoverde 
Published: January 2014

AbstractLarge seed banks have been found in tropical dry forests and also in habitats with high seasonality in rainfall. However, patchily structured vegetation could induce great spatial variation in the seed bank. We characterized the seed bank in a patchy vegetation of restinga, a common type of coastal vegetation found in the Atlantic forest biome. We also evaluated whether there is any spatial variation between the litter and soil layer, bare sand, and the edge and center of vegetation patches with distinct species dominance. We found 104 seeds/m2 in the seed bank using a 5‐cm‐depth sampling. Seven out of 16 species found in the restinga seed bank germinated; two of these were found in the early stages of vegetation patches. We found a higher number of seeds at the edge than in the center of vegetation patches. However, there were no significant differences in the number of seeds in the seed bank between the litter and soil layer, and between vegetation patches with distinct species dominance. Bare sandy soils had lower seed bank densities than vegetation patches. A small seed bank size might be explained by the low proportion of seeds from herbaceous and woody species, which are pioneers in the Atlantic forest. However, seed bank might play an important role in the early stages of the successional process, due to the occurrence of the few species that are able to colonize new young vegetation patches.
Biochemical studies on a versatile esterase that is most catalytically active with polyaromatic esters
Authors: Martínez‐Martínez Mónica , Lores Iván , Peña‐García Carlina , Bargiela Rafael , Reyes‐Duarte Dolores , Guazzaroni María‐Eugenia , Peláez Ana Isabel , Sánchez Jesús , Ferrer Manuel 
Published: January 2014

SummaryHerein, we applied a community genomic approach using a naphthalene‐enriched community (CN1) to isolate a versatile esterase (CN1E1) from the α/β‐hydrolase family. The protein shares low‐to‐medium identity (≤ 57%) with known esterase/lipase‐like proteins. The enzyme is most active at 25–30°C and pH 8.5; it retains approximately 55% of its activity at 4°C and less than 8% at ≥ 55°C, which indicates that it is a cold‐adapted enzyme. CN1E1 has a distinct substrate preference compared with other α/β‐hydrolases because it is catalytically most active for hydrolysing polyaromatic hydrocarbon (phenanthrene, anthracene, naphthalene, benzoyl, protocatechuate and phthalate) esters (7200–21 000 units g−1 protein at 40°C and pH 8.0). The enzyme also accepts 44 structurally different common esters with different levels of enantio‐selectivity (1.0–55 000 units g−1 protein), including (±)‐menthyl‐acetate, (±)‐neomenthyl acetate, (±)‐pantolactone, (±)‐methyl‐mandelate, (±)‐methyl‐lactate and (±)‐glycidyl 4‐nitrobenzoate (in that order). The results provide the first biochemical evidence suggesting that such broad‐spectrum esterases may be an ecological advantage for bacteria that mineralize recalcitrant pollutants (including oil refinery products, plasticizers and pesticides) as carbon sources under pollution pressure. They also offer a new tool for the stereo‐assembly (i.e. through ester bonds) of multi‐aromatic molecules with benzene rings that are useful for biology, chemistry and materials sciences for cases in which enzyme methods are not yet available.
Advanced Interatrial Block is Associated with Recurrence of Atrial Fibrillation Post Pharmacological Cardioversion
Authors: Enriquez Andres , Conde Diego , Hopman Wilma , Mondragon Ignacio , Chiale Pablo A. , de Luna Antoni Bayés , Baranchuk Adrian 
Published: January 2014

SummaryIntroductionManagement of atrial fibrillation (AF) is hampered by frequent recurrences after restoration of sinus rhythm. Delayed interatrial conduction has been associated with the development of AF in different clinical settings. The aim of our study was to assess whether advanced interatrial block (aIAB) was associated with AF recurrence after pharmacological cardioversion with two different antiarrhythmic drugs.MethodsWe included 61 patients with recent onset AF without structural heart disease that underwent successful pharmacological cardioversion. Thirty‐one patients received a single oral dose of propafenone, and 30 patients received iv vernakalant. A 12‐lead ECG (filter 150 Hz, 25 mm/s, 10 mm/mV) after conversion was evaluated for the presence of interatrial block (IAB); partial (pIAB): P‐wave duration > 120 ms, and advanced (aIAB): P‐wave > 120 ms and biphasic morphology (±) in inferior leads. Clinical follow‐up and electrocardiographic recordings were performed for a 12‐month period.ResultsAge was 58 ± 10.4 years and 50.8% were male. aIAB was present in 11 patients (18%) and pIAB in 10 (16.4%). At 1‐year follow‐up, 22 patients (36%) had AF recurrence. The recurrence rate with aIAB was 90.9% versus 70% in those with pIAB and 12.5% in normal P‐wave duration (P = 0.001). The presence of aIAB was strongly associated with AF recurrence (odds ratio 18.4 in multivariable modeling). Recurrence was not affected by the drug used for cardioversion (P = 0.92).ConclusionAdvanced interatrial block is associated with higher risk of AF recurrence at 1 year after pharmacological cardioversion, independent of the drug used.
Sex differences in interpretation bias in adolescents
Authors: Gluck Rachel L. , Lynn Debra A. , Dritschel Barbara , Brown Gillian R. 
Published: January 2014

Interpretation biases, in which ambiguous information is interpreted negatively, have been hypothesized to place adolescent females at greater risk of developing anxiety and mood disorders than same‐aged males. We tested the hypothesis that adolescent girls interpret ambiguous scenarios more negatively, and/or less positively, than same‐aged males using the Adolescent Interpretation and Belief Questionnaire (N = 67, 11–15 years old). We also tested whether adolescent girls and boys differed in judging positive or negative interpretations to be more believable and whether the scenario content (social vs. non‐social) affected any sex difference in interpretation bias. The results showed that girls had higher average negative interpretation scores than boys, with no sex differences in positive interpretation scores. Girls and boys did not differ on which interpretation they found to be most believable. Both sexes reported that positive interpretations were less likely to come to mind, and were less believable, for social than for non‐social scenarios. These results provide preliminary evidence for sex differences in interpretation biases in adolescence and support the hypothesis that social scenarios are a specific source of anxiety to this age group. A greater understanding of the aetiology of interpretation biases will potentially enhance sex‐ and age‐specific interventions for anxiety and mood disorders.
Co-existence of clonal expanded autologous and transplacental-acquired maternal T cells in recombination activating gene-deficient severe combined immunodeficiency
Authors: Lev A , Simon A J , Ben-Ari J , Takagi D , Stauber T , Trakhtenbrot L , Rosenthal E , Rechavi G , Amariglio N , Somech R 
Published: January 2014

Summary
It is commonly accepted that the presence of high amounts of maternal T cells excludes Omenn syndrome (OS) in severe combined immunodeficiency (SCID). We report a SCID patient with a novel mutation in the recombination activating gene (RAG)1 gene (4-BP DEL.1406 TTGC) who presented with immunodeficiency and OS. Several assays, including representatives of specific T cell receptors (TCR), Vβ families and TCR-γ rearrangements, were performed in order to understand more clearly the nature and origin of the patient's T cells. The patient had oligoclonal T cells which, based on the patient–mother human leucocyte antigen (HLA)-B50 mismatch, were either autologous or of maternal origin. These cell populations were different in their numbers of regulatory T cells (Treg) and the diversity of TCR repertoires. This is the first description of the co-existence of large amounts of clonal expanded autologous and transplacental-acquired maternal T cells in RAG1-deficient SCID.
Blastopathies and microcephaly in a Chornobyl impacted region of Ukraine
Authors: Wertelecki Wladimir , Yevtushok Lyubov , Zymak‐Zakutnia Natalia , Wang Bin , Sosyniuk Zoriana , Lapchenko Serhiy , Hobart Holly H. 
Published: January 2014

AbstractThis population‐based descriptive epidemiology study demonstrates that rates of conjoined twins, teratomas, neural tube defects, microcephaly, and microphthalmia in the Rivne province of Ukraine are among the highest in Europe. The province is 200 km distant from the Chornobyl site and its northern half, a region known as Polissia, is significantly polluted by ionizing radiation. The rates of neural tube defects, microcephaly and microphthalmia in Polissia are statistically significantly higher than in the rest of the province. A survey of at‐birth head size showed that values were statistically smaller in males and females born in one Polissia county than among neonates born in the capital city. These observations provide clues for confirmatory and cause‐effect prospective investigations. The strength of this study stems from a reliance on international standards prevalent in Europe and a decade‐long population‐based surveillance of congenital malformations in two distinct large populations. The limitations of this study, as those of other descriptive epidemiology investigations, is that identified cause‐effect associations require further assessment by specific prospective investigations designed to address specific teratogenic factors.
Pilot of BRAF mutation analysis in indeterminate, suspicious and malignant thyroid FNA cytology
Authors: Johnson S. J. , Hardy S. A. , Roberts C. , Bourn D. , Mallick U. , Perros P. 
Published: January 2014

BackgroundBRAF V600E mutation has been reported to show a high specificity for papillary thyroid carcinoma (PTC). Using this marker to upgrade ‘indeterminate’ or ‘suspicious’ thyroid fine needle aspiration (FNA) cytology to ‘malignant’ could potentially allow one‐stage therapeutic total thyroidectomy.MethodsFor a 14‐month period, FNA cytology specimens in the Thy3–5 categories, which are the UK equivalents of indeterminate (Thy3a, atypical; Thy3f, follicular), suspicious for malignancy (Thy4) and malignant (Thy5) in the Bethesda System, underwent BRAF mutation testing by melt curve analysis. The results were correlated with histology.ResultsWe tested 123 cytology specimens of which 12 (9.8%) failed. The BRAF mutation rate in the remainder was 16.2% (18/111), with 93 showing the wild‐type. Seventeen mutations were V600E and one was non‐V600E. The rate of mutation increased significantly (P < 0.0001 if Thy3a and Thy3f were combined) with the cytology category: 1/42 Thy3a (2.4%), 1/36 Thy3f (2.8%), 4/15 Thy4 (26.7%), 12/18 Thy5 (66.7%). All BRAF mutations correlated with PTC on histology, except for one recurrent PTC without histology. One mutation‐positive case with Thy3a cytology showed the target lesion to be a 10‐mm follicular adenoma on histology with an immediately adjacent 4‐mm micro‐PTC, in a patient who did not require total thyroidectomy.ConclusionBRAF mutational analysis by melt curve analysis is feasible in routine thyroid cytology, and in our series had a 100% specificity for PTC in subsequent histology. The application of BRAF analysis could be useful for indeterminate cytology, but we suggest that it would be most appropriate and cost‐effective for Thy4/suspicious cases, for which it could enable one‐stage therapeutic surgery in the context of multidisciplinary discussion. In contrast, the sensitivity is low and there is no role for avoiding diagnostic thyroid surgery if wild‐type BRAF is found.
Multiple environmental controls on phytoplankton growth strategies determine adaptive responses of the N : P ratio
Authors: Daines Stuart J. , Clark James R. , Lenton Timothy M. 
Published: January 2014

AbstractThe controls on the ‘Redfield’ N : P stoichiometry of marine phytoplankton and hence the N : P ratio of the deep ocean remain incompletely understood. Here, we use a model for phytoplankton ecophysiology and growth, based on functional traits and resource‐allocation trade‐offs, to show how environmental filtering, biotic interactions, and element cycling in a global ecosystem model determine phytoplankton biogeography, growth strategies and macromolecular composition. Emergent growth strategies capture major observed patterns in marine biomes. Using a new synthesis of experimental RNA and protein measurements to constrain per‐ribosome translation rates, we determine a spatially variable lower limit on adaptive rRNA:protein allocation and hence on the relationship between the largest cellular P and N pools. Comparison with the lowest observed phytoplankton N : P ratios and N : P export fluxes in the Southern Ocean suggests that additional contributions from phospholipid and phosphorus storage compounds play a fundamental role in determining the marine biogeochemical cycling of these elements.
Estimating the burden of early onset dementia; systematic review of disease prevalence
Authors: Lambert M. A. , Bickel H. , Prince M. , Fratiglioni L. , Von Strauss E. , Frydecka D. , Kiejna A. , Georges J. , Reynish E. L. 
Published: January 2014

AbstractDementia is more common in older age but a number of people develop symptoms at a younger age and are said to have early onset dementia (EOD). Those with EOD face different challenges to those with onset later in life. It has been difficult to quantify this disease burden. This is a systematic review of papers reporting on the prevalence of EOD. A search of Medline and Embase was performed. This was followed by a hand search of the references of these papers. Eleven suitable studies were included. All of the data was from more economically developed countries. The studies were heterogeneous in their design hindering direct comparison. The majority of the papers looked at all types of dementia although many gave a breakdown of the prevalence of different subgroups. A variety of diagnostic criteria was employed. Figures of 38 to 260 per 100 000 are quoted by papers looking at various different types of dementia together with an onset of between 30 and 64 or up to 420 per 100 000 for those aged 55–64. Prevalence rises as age approaches 65. Epidemiological data for prevalence rates for EOD are sparse. EOD remains a rare condition with low case numbers. Assimilation and comparison of results from existing studies is difficult due to methodological heterogeneity. Cross‐national standardization of methodology should be a priority for future research in this area.
Intellectual development before and after the onset of infantile spasms: A controlled prospective longitudinal study in tuberous sclerosis
Authors: Humphrey Ayla , MacLean Cathy , Ploubidis George B. , Granader Yael , Clifford Michelle , Haslop Maisy , Neville Brian G.R. , Yates John R.W. , Bolton Patrick F. ,   the Tuberous Sclerosis 2000 Study Group
Published: January 2014

SummaryObjectiveInfantile spasms (IS) have long been suspected to be a risk factor for impairment in intellectual development, but there are no controlled, prospective longitudinal data in well‐characterized conditions to confirm this suspicion. We tested the hypothesis in a longitudinal study of children with tuberous sclerosis (TS), who have a high risk of developing IS.MethodsEleven infants with TS were recruited and studied longitudinally using the Mullen Scales of Early Learning. Seizure histories were assessed using a structured parent interview and by review of medical notes. Intellectual development was examined in relation to the onset and length of exposure to IS and other types of seizures.ResultsSix children developed IS and five children developed other types of seizure disorders. Among those that developed IS, estimated mean IQ dropped significantly (nonparametric test for trend p = 0.002) from 92 (prior to onset of spasms) to 73 (after exposure to IS for a month or less) and 62 (after exposure to IS for more than a month). By contrast, there was no significant drop in estimated IQ among the five infants exposed to other types of seizure disorders (nonparametric test for trend p = 0.9). All six children exposed to infantile spasms developed clinically significant intellectual impairment.SignificanceThese data provide the first clear evidence of clinically significant, dose dependent, impairment in intellectual development following exposure to infantile spasms. The mechanisms underlying this developmental impairment and methods for preventing it require in depth study.
Altered thalamic GABAA‐receptor subunit expression in the stargazer mouse model of absence epilepsy
Authors: Seo Steve , Leitch Beulah 
Published: January 2014

SummaryPurposeAbsence seizures, also known as petit mal seizures, arise from disruptions within the cortico‐thalamocortical network. Interconnected circuits within the thalamus consisting of inhibitory neurons of the reticular thalamic nucleus (RTN) and excitatory relay neurons of the ventral posterior (VP) complex, generate normal intrathalamic oscillatory activity. The degree of synchrony in this network determines whether normal (spindle) or pathologic (spike wave) oscillations occur; however, the cellular and molecular mechanisms underlying absence seizures are complex and multifactorial and currently are not fully understood. Recent experimental evidence from rodent models suggests that regional alterations in γ‐aminobutyric acid (GABA)ergic inhibition may underlie hypersynchronous oscillations featured in absence seizures. The aim of the current study was to investigate whether region‐specific differences in GABAA receptor (GABAAR) subunit expression occur in the VP and RTN thalamic regions in the stargazer mouse model of absence epilepsy where the primary deficit is in α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazolepropionic acid receptor (AMPAR) expression.MethodsImmunofluorescence confocal microscopy and semiquantitative Western blot analysis were used to investigate region‐specific changes in GABAAR subunits in the thalamus of the stargazer mouse model of absence epilepsy to determine whether changes in GABAergic inhibition could contribute to the mechanisms underlying seizures in this model of absence epilepsy.Key FindingsImmunofluorescence confocal microscopy revealed that GABAAR α1 and β2 subunits are predominantly expressed in the VP, whereas α3 and β3 subunits are localized primarily in the RTN. Semiquantitative Western blot analysis of VP and RTN samples from epileptic stargazers and their nonepileptic littermates showed that GABAAR α1 and β2 subunit expression levels in the VP were significantly increased (α1: 33%, β2: 96%) in epileptic stargazers, whereas α3 and β3 subunits in the RTN were unchanged in the epileptic mice compared to nonepileptic control littermates.SignificanceThese findings suggest that region‐specific differences in GABAAR subunits in the thalamus of epileptic mice, specifically up‐regulation of GABAARs in the thalamic relay neurons of the VP, may contribute to generation of hypersynchronous thalamocortical activity in absence seizures. Understanding region‐specific differences in GABAAR subunit expression could help elucidate some of the cellular and molecular mechanisms underlying absence seizures and thereby identify targets by which drugs can modulate the frequency and severity of epileptic seizures. Ultimately, this information could be crucial for the development of more specific and effective therapeutic drugs for treatment of this form of epilepsy.
PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels
Authors: Nakamura Kazuyuki , Osaka Hitoshi , Murakami Yoshiko , Anzai Rie , Nishiyama Kiyomi , Kodera Hirofumi , Nakashima Mitsuko , Tsurusaki Yoshinori , Miyake Noriko , Kinoshita Taroh , Matsumoto Naomichi , Saitsu Hirotomo 
Published: January 2014

SummaryAberrations in the glycosylphosphatidylinositol (GPI)–anchor biosynthesis pathway constitute a subclass of congenital disorders of glycosylation, and mutations in seven genes involved in this pathway have been identified. Among them, mutations in PIGV and PIGO, which are involved in the late stages of GPI‐anchor synthesis, and PGAP2, which is involved in fatty‐acid GPI‐anchor remodeling, are all causative for hyperphosphatasia with mental retardation syndrome (HPMRS). Using whole exome sequencing, we identified novel compound heterozygous PIGO mutations (c.389C>A [p.Thr130Asn] and c.1288C>T [p.Gln430*]) in two siblings, one of them having epileptic encephalopathy. GPI‐anchored proteins (CD16 and CD24) on blood granulocytes were slightly decreased compared with a control and his mother. Our patients lacked the characteristic features of HPMRS, such as facial dysmorphology (showing only a tented mouth) and hypoplasia of distal phalanges, and had only a mild elevation of serum alkaline phosphatase (ALP). Our findings therefore expand the clinical spectrum of GPI‐anchor deficiencies involving PIGO mutations to include epileptic encephalopathy with mild elevation of ALP.