bluuebunny/crossref_metadata_2025_split huggingface dataset:
Construction of a genetic linkage map of Japanese quail (Coturnix japonica) based on AFLP and microsatellite markers
Authors: Kikuchi S. , Fujima D. , Sasazaki S. , Tsuji S. , Mizutani M. , Fujiwara A. , Mannen H. 
Published: April 2010

SummaryThe Japanese quail (Coturnix japonica) is a notably valuable egg and meat producer but has also been used as a laboratory animal. In the present study, we constructed a Japanese quail linkage map with 1735 polymorphic amplified fragment length polymorphisms markers, and nine chicken microsatellite (MS) markers, as well as sex and phenotypes of two genetic diseases; a muscular disorder (LWC) and neurofilament‐deficient mutant (Quv). Linkage analysis revealed 578 independent loci. The resulting linkage map contained 44 multipoint linkage groups covering 2597.8 cM and an additional 218.2 cM was contained in 21 two‐point linkage groups. The total map was 2816 cM in length with an average marker interval of 5.5 cM. The Quv locus was located on linkage group 5, but linkage was not found between the LWC locus and any of the markers. Comparative mapping with chicken using orthologous markers revealed chromosomal assignments of the quail linkage group 1 to chicken chromosome 2 (GGA2), 5 to GGA22, 2 to GGA5, 8 to GGA7, 27 to GGA11, 29 to GGA1 and 45 to GGA4.
Addressing longitudinal connectivity in the systematic conservation planning of fresh waters
Authors: HERMOSO V. , LINKE S. , PRENDA J. , POSSINGHAM H. P. 
Published: April 2010

Summary1. Freshwater conservation has received less attention than its terrestrial or marine counterparts. Given the accelerated rate of change and intensive human use that freshwater ecosystems are submitted to, it is urgent to focus more attention on fresh waters. Existing conservation planning tools – such as Marxan – need to be modified to account for the special nature of these systems. Connectivity plays a key role in freshwater ecosystems. Threats are mediated along river corridors, and the condition of the entire catchment influences river biodiversity downstream. This needs to be considered in conservation planning.2. The probabilities of occurrence of nine native freshwater fish species in a Mediterranean river basin, obtained from Multivariate Adaptive Regression Splines‐ Generalized Linear Model (MARS‐GLM) models, were used as features to develop spatial conservation priorities. The priorities accounted for complementarity and spatial design issues.3. To deal with the connected nature of rivers, we modified Marxan’s boundary length penalty, avoiding the selection of isolated planning units and forcing the inclusion of closer upstream areas. We introduced ‘virtual boundaries’ between non‐headwater stream segments and added distance‐weighted penalties to the overall connectivity cost (CP) when stream segments upstream of the selected planning units are not selected.4. This approach to prioritising connectivity is concordant with ecological theory, as it considers the natural and roughly exponential decay of upstream influences with distance. It accounts for the natural capacity of rivers to mitigate impacts when designing reserves. When connectivity was not emphasised, Marxan prioritised natural corridors for longitudinal movements. In contrast, whole sub‐basins were prioritised when connectivity was emphasised. Changing the relative emphasis on connectivity substantially changed the spatial prioritisation; our conservation investment could move from one basin to another.5. Our novel approach to dealing with directional connectivity enables managers of freshwater systems to set ecologically meaningful spatial conservation priorities.
Response of human pulps after professionally applied vital tooth bleaching
Authors: Kina J. F. , Huck C. , Riehl H. , Martinez T. C. , Sacono N. T. , Ribeiro A. P. D. , Costa C. A. S. 
Published: April 2010

Kina JF, Huck C, Riehl H, Martinez TC, Sacono NT, Ribeiro APD, Costa CAS. Response of human pulps after professionally applied vital tooth bleaching. International Endodontic Journal 43, 572–580, 2010.AbstractAim  To evaluate in vivo the microscopic pulpal response in sound human premolar teeth subjected to vital tooth bleaching with a 38% hydrogen peroxide (H2O2) bleaching gel (Opalescence X‐tra Boost) catalysed or not by a halogen light source.Methodology  Twelve pairs of sound maxillary and/or mandibular premolar teeth from 12 to 18‐year‐old patients were selected and randomly assigned to the following experimental (n = 10) and control (n = 4) groups: group 1: bleaching gel + halogen light; group 2: bleaching gel; group 3: no treatment (control). The teeth were extracted 2–15 days after bleaching and were subjected to routine laboratory processing for histological analysis of the pulpal response under light microscopy.Results  In almost all specimens of the experimental groups, the pulp tissue exhibited histological characteristics of normality. Only one specimen in each group exhibited some dilated and congested blood vessels among a discrete number of mononuclear inflammatory cells in the peripheral pulp region related to the buccal surface of the tooth. These specimens had a slight disruption to the odontoblastic layer, which characterized discrete tissue disorganization. Some deposition of reactionary dentine occurred in only one specimen of group 2.Conclusions  Professionally applied vital tooth bleaching with a 38% H2O2 gel with or without activation by a halogen light source did not cause damage to the pulp tissue of sound human premolar teeth.
Maternal responses to child frustration and requests for help in dyads with fragile X syndrome
Authors: Wheeler A. C. , Hatton D. , Holloway V. T. , Sideris J. , Neebe E. C. , Roberts J. E. , Reznick J. S. 
Published: April 2010

AbstractBackground  Variability in behaviour displayed by children with fragile X syndrome (FXS) may be partially attributable to environmental factors such as maternal responsivity. The purpose of this study was to explore variables associated with maternal behaviour during a task designed to elicit frustration in their children with FXS.Methods  Forty‐six mother–child dyads, in which the child had full‐mutation FXS, were observed in their homes during a task designed to elicit frustration in the child. Each child was given a wrong set of keys and asked to open a box to retrieve a desired toy. Mothers were provided with the correct set of keys and instructed to intervene when they perceived their child was getting too frustrated. Child‐expressed frustration and requests for help and maternal behaviours (comforting, negative control, and encouraging/directing) were observed and coded. Maternal variables (e.g. depression, stress, education levels), child variables (e.g. autistic behaviours, age, medication use) and child behaviours (frustration, requests for help) were explored as predictors of maternal behaviour.Results  Almost all mothers intervened to help their children and most used encouraging/directing behaviours, whereas very few used comforting or negative control. Child age and child behaviours during the frustrating event were significant predictors of encouraging/directing behaviours in the mothers. Children whose mothers reported higher depressive symptomology used fewer requests for help, and mothers of children with more autistic behaviours used more negative control.Conclusions  The results of this study suggest that child age and immediate behaviours are more strongly related to maternal responsivity than maternal traits such as depression and stress.
Use of antipsychotic drugs in individuals with intellectual disability (ID) in the Netherlands: prevalence and reasons for prescription
Authors: de Kuijper G. , Hoekstra P. , Visser F. , Scholte F. A. , Penning C. , Evenhuis H. 
Published: April 2010

AbstractBackground  We investigated antipsychotic drug prescription practice of Dutch ID physicians, studying prevalence of antipsychotic drug use, reasons for prescription and the relationship between these reasons and patient characteristics.Methods  A cross‐sectional study of medical and pharmaceutical records in a population living in residential settings of three care providers for persons with IDs in the Netherlands (n = 2373).Results  Prevalence of antipsychotic drug use was 32.2% (95% CI 30.1–33.9). Behavioural problems were the reason for prescription of antipsychotic drugs in 58% of cases and psychotic disorder or psychotic symptoms in 22.5%. In 11.7% the diagnosis of psychotic disorder was specified according to DSM‐IV criteria. In 18.5% the reason for prescription was not noted in the medical record. Behavioural problems as reason for prescription was associated with profound and severe ID, living in a central location and male sex. Psychotic disorder specified according to DSM‐IV as indication for prescription was negatively associated with profound and severe ID and with presence of an additional mental disorder. Absence of a noted reason for prescription was associated with female sex and with the presence of an additional mental disorder.Discussion  Current prevalence and reason for prescription of antipsychotic drugs are similar with outcomes of previous studies. Our results show the continuing lack of evidence‐based psychopharmacological treatment in mental health care for persons with IDs.
Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease
Authors: Stallmeyer B , Fenge H , Nowak‐Göttl U , Schulze‐Bahr E 
Published: April 2010

Stallmeyer B, Fenge H, Nowak‐Göttl U, Schulze‐Bahr E. Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease.Heterozygous mutations in the human transcription factor gene NKX2.5 are associated with either isolated or combined congenital heart disease (CHD), primarily secundum atrial septal defect‐II (ASD‐II), ventricular septal defect (VSD) or tetralogy of Fallot (TOF). Thus, NKX2.5 has an important role at different stages of cardiac development. The frequency of NKX2.5 mutations in a broader phenotypic spectrum of CHD is not completely determined. Here, we report the identification of two novel mutations in the NKX2.5 gene in a screening of 121 patients with a broad spectrum of CHDs. However, mutations were only associated with familial ASD‐II and in both, patients also showed atrioventricular (AV) block. We found one missense mutation (R190L) in two siblings with ASD‐II and a frame‐shift mutation (A255fsX38) at the C‐terminus in a mother and daughter. In addition, a single patient with hypoplastic left heart syndrome (HLHS) had the reported sequence variant R25C. Importantly, sporadic cases of CHD that share phenotypic aspects of NKX2.5 mutation carriers were negative for genetic analysis. Thus, even important for cardiac development, germline mutations in NKX2.5 are rare in patients with sporadic CHD and genetic and/or pathophysiologic heterogeneity is likely for sporadic forms of CHD.
Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene
Authors: Brožková D , Mazanec R , Haberlová J , Sakmaryová I , Seeman P 
Published: April 2010

Brožková D, Mazanec R, Haberlová J, Sakmaryová I, Seeman P. Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene.Mutations in the myelin protein zero (MPZ) gene are one of the frequent causes of Charcot‐Marie‐Tooth (CMT) hereditary neuropathies. Because the mutation rate of MPZ gene is rather high and some mutations are reported as polymorphisms, the proper clinical, electrophysiological examination and the segregation of the new mutation in larger families are crucial for the correct interpretation of the pathogenic or non‐pathogenic character of each novel mutation. We examined 11 families with novel MPZ mutations. Eight of the mutations (L48Q, T65N, E97fs, G103W, P132T, T143R, V146G, c.645+1G>T) seem to be pathogenic on the basis of perfect segregation with the CMT phenotype and two (G213R and D246N), on the contrary, seem to be non‐pathogenic/rare polymorphisms because they are present in healthy relatives. The character of the V46M mutation is difficult to interpret definitely; it may cause a sensory neuropathy or may also be a rare polymorphism. Phenotypes associated with each of the new mutations include severe hereditary motor and sensory neuropathy type III (HMSN III), and mild phenotype CMT1B presented mostly with only decreased or absent reflexes, foot deformities and mild or even absent atrophies in the lower limbs. Our report and careful family investigations with genotype–phenotype correlations should help to improve genetic counselling and correct interpretation of DNA testing results in further isolated patients or smaller families worldwide where these novel mutations might be found.
ERCC6 founder mutation identified in Finnish patients with COFS syndrome
Authors: Jaakkola E , Mustonen A , Olsen P , Miettinen S , Savuoja T , Raams A , Jaspers NGJ , Shao H , Wu BL , Ignatius J 
Published: April 2010

Jaakkola E, Mustonen A, Olsen P, Miettinen S, Savuoja T, Raams A, Jaspers NGJ, Shao H, Wu BL, Ignatius J. ERCC6 founder mutation identified in Finnish patients with COFS syndrome.Cerebro‐oculo‐facio‐skeletal (COFS) syndrome is an autosomal recessive disorder characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. We report a large consanguineous pedigree from northern Finland with six individuals belonging into four different sibships and affected with typical COFS syndrome phenotype. Two deceased patients have been published previously in 1982 as the first cases exhibiting cerebral calcifications typical for this disorder. Two living and one of the deceased patients were all shown to possess a novel homozygous mutation in the ERCC6 [Cockayne syndrome B (CSB)] gene, thereby confirming the diagnosis on molecular genetic level even for the earlier published cases. Genealogical investigation showed a common ancestor living in a northeastern village in Finland in the 18th century for all six patients implying a founder effect.
Hypogammaglobulinemia and bronchiectasis in mycophenolate mofetil‐treated renal transplant recipients: an emerging clinical phenomenon?
Authors: Boddana Preetham , Webb Lynsey H. , Unsworth Joseph , Brealey Matthew , Bingham Coralie , Harper Steven J. 
Published: April 2010

Boddana P, Webb LH, Unsworth J, Brealey M, Bingham C, Harper SJ. Hypogammaglobulinemia and bronchiectasis in mycophenolate mofetil‐treated renal transplant recipients: an emerging clinical phenomenon? Clin Transplant 2011: 25: 417–419. © 2010 John Wiley & Sons A/S.Abstract: Background:  Mycophenolate mofetil (MMF) inhibits T‐ and B‐cell proliferation and can cause acquired or secondary hypogammaglobulinemia. This finding and the subsequent development of opportunistic infection, including pneumonia, have been reported in patients receiving MMF. Chronic pulmonary infection and hypogammaglobulinemia predispose to bronchiectasis, and we aimed to establish the incidence and clinical pattern of this condition within our MMF‐treated renal transplant population.Methods:  We performed a retrospective analysis of MMF‐treated transplant recipients. Two hundred and eighty‐nine patients were identified and for each, demographic, clinical, radiological and laboratory data from case notes and electronic records were collected.Results:  Twenty‐three of 289 patients had recurrent severe chest infections (>2 episodes) between 12 and 95 months after the introduction of MMF. The mean age was 53 ± 17 yr. Pulmonary lesions fulfilled clinical, radiographic and computerized tomography criteria for bronchiectasis in 7/289 (2.4%). All seven patients with bronchiectasis had low serum IgG levels. Three patients had sufficient samples available for B‐cell phenotype analysis but no conclusive results emerged. No cases of post‐transplant bronchiectasis were identified in our transplant population not receiving MMF.Discussion:  We report seven cases of bronchiectasis in renal transplant patients receiving MMF. We speculate that low immunoglobulin levels may contribute to the development of this significant pulmonary disease.
Divergent patterns of diversification in courtship and genitalic characters of Timema walking‐sticks
Authors: ARBUTHNOTT D. , ELLIOT M. G. , McPEEK M. A. , CRESPI B. J. 
Published: April 2010

AbstractUnderstanding the patterns of diversification in sexual traits and the selection underlying such diversification represents a major unresolved question in evolutionary biology. We examined the phylogenetic diversification for courtship and external genitalic characters across ten species of Timema walking‐sticks, to infer the tempos and modes of character change in these sexual traits and to draw inferences regarding the selective pressures underlying speciation and diversification in this clade. Rates of inferred change in male courtship behaviours were proportional to speciation events, but male external genitalic structures showed a pattern of continuous change across evolutionary time, with divergence proportional to branch lengths. These findings suggest that diversification of courtship behaviour is mediated by processes that occur in association with speciation, whereas diversification of genitalia occurs more or less continuously, most likely driven by forces of sexual selection.
Observational comparative trial of the efficacy of proton pump inhibitors versus histamine‐2 receptor antagonists for uninvestigated dyspepsia
Authors: Nagahara Akihito , Asaoka Daisuke , Hojo Mariko , Oguro Masako , Shimada Yuji , Ishikawa Dai , Osada Taro , Kawabe Masato , Yoshizawa Takashi , Otaka Michiro , Watanabe Sumio 
Published: April 2010

AbstractBackground and Aims: It is still controversial which drugs, proton pump inhibitors (PPI) or histamine‐2 receptor antagonists (H2RA), are more effective for dyspepsia in the Japanese population.Methods: Patients with uninvestigated dyspepsia (n = 104; male/female 41/63) were treated with either rabeprazole 10 mg o.d. (n = 62) or lafutidine 10 mg b.i.d. (n = 42) for 4 weeks. Questionnaires (modified Frequency Scale for the Symptoms of Gastroesophageal Reflux Disease [mFSSG] and quality of life [QOL], SF‐8) were administered before and after therapy. The mFSSG was classified into a total score (Q‐T), reflux score (Q‐R), dyspepsia score (Q‐D) and pain score (Q‐P). The SF‐8 had a physical component summary (PCS) and mental component summary (MCS). The predominant type of symptom was reflux (R‐S), pain (P‐S) or dysmotility (D‐S).Results: R‐S was 19.2%, P‐S 48.1%, D‐S 24.0% and overlap 8.7%. In the R‐S, Q‐T and Q‐R significantly improved with rabeprazole, but neither scale improved with lafutidine. MCS significantly improved with rabeprazole. In P‐S, Q‐T, Q‐R, Q‐D and Q‐P significantly improved with both drugs. PCS significantly improved with both, whereas the MCS significant improved with rabeprazole. In D‐S, Q‐R and Q‐D significant improved with rabeprazole, but neither improved with lafutidine. QOL did not improve with either. With overlap, neither scale nor the QOL reached a significant difference.Conclusion: Both PPI and H2RA have a positive effect on P‐S, but H2RA therapy is limited for R‐S and D‐S, whereas PPI therapy is generally effective. Therefore, careful prescription based on symptoms is important.
Combined Mathieu and Snodgrass urethroplasty for hypospadias repair: A prospective randomized study
Authors: ElGanainy Ehab O , Abdelsalam Yaser M , Gadelmoula Mohamad M , Shalaby Mahmoud M 
Published: April 2010

Objectives:  To evaluate the outcomes of combined Mathieu and Snodgrass urethroplasty for distal hypospadias repair and to compare them with the two techniques separately.Methods:  Between January 2006 and February 2009, patients with distal hypospadias were prospectively randomized to undergo one of the three following urethroplasty techniques: Mathieu urethroplasty, Snodgrass urethroplasty or a combination of the two. Operative time, intraoperative, early and late postoperative complications were reported for each procedure.Results:  101 patients were included in this study. The Mathieu technique was used for 30 patients, Snodgrass repair was carried out in 37 patients and 34 patients underwent the combined technique. Operative time ranged from 43 to 120 min. Eight patients developed urethrocutaneous fistulae. Meatal stenosis was encountered in five cases. Thirty‐seven patients had rounded meatus, while a slit‐like urethral opening was found in 64 cases.Conclusions:  In our hands, the combined Mathieu and Snodgrass urethroplasty technique provided a better cosmetic outcome than the Mathieu technique with no incidence of meatal stenosis as seen with the Snodgrass technique.
Detecting the impact of invasive species on native fauna: Cane toads (Bufo marinus), frillneck lizards (Chlamydosaurus kingii) and the importance of spatial replication
Authors: UJVARI BEATA , SHINE RICHARD , MADSEN THOMAS 
Published: April 2010

AbstractAn understanding of which native species are severely impacted by an anthropogenic change (such as the arrival of an invasive species) and which are not is critical to prioritizing conservation efforts. However, it is difficult to detect such impacts if the native taxa exhibit strong stochastic variations in abundance; a ‘natural’ population decline might be wrongly interpreted as an impact of the invader. Frillneck lizards (Chlamydosaurus kingii) are large iconic Australian agamids, and have been reported to decline following the invasion of toxic cane toads. We monitored three populations of the species in the savanna woodland of tropical Australia over a 7‐year period bracketing toad arrival. One population crashed, one remained stable and one increased. Hence, studies on any single population might have inferred that cane toads have negative, negligible or positive effects on frillneck lizards. With the benefit of spatial replication, and in combination with observations of prey choice by captive lizards, our data suggest that invasive cane toads have had little or no effect on frillneck abundance.
Relationships among microclimate, edaphic conditions, vegetation distribution and soil nitrogen dynamics on the Bogong High Plains, Australia
Authors: HUBER EDITH , BELL TINA L. , SIMPSON ROBERT R. , ADAMS MARK A. 
Published: April 2010

AbstractWe examined microclimatic conditions and soil nitrogen (N) dynamics of different alpine plant community types on the Bogong High Plains in Victoria, Australia. Three community types are predominant in the High Plains region, namely grassland, heathland and woodland and together they form so‐called inverted treelines, with grassland in valley floors below the treeline. Outdoor temperature loggers were deployed in the three vegetation types to establish differences among microclimatic conditions. We incubated soils to determine rates of N production and collected additional soil samples for analysis of soil properties and soluble N. Temperature data showed that only grassland communities experienced sub‐zero temperatures in winter. Temperature and soil moisture influenced indices of N mineralization and N nitrification in this alpine ecosystem. Rates of N mineralization were significantly faster than nitrification that only produced consequential amounts of nitrate in summer. This information, together with considerably lower pools of nitrate than ammonium and organic N in the soil, implies that ammonium is the dominant form of soluble N in the ecosystem whereas nitrate most likely only has minor importance for plant nutrition. The results of this study provide insight into ecological processes of this alpine ecosystem and demonstrate the vulnerability of the system to altered climatic and edaphic conditions in the course of climate change.