bluuebunny/crossref_metadata_2025_split huggingface dataset:
Breakpoint characterization of large deletions in EXT1 or EXT2 in 10 Multiple Osteochondromas families
Authors: Jennes Ivy , de Jong Danielle , Mees Kirsten , Hogendoorn Pancras CW , Szuhai Karoly , Wuyts Wim 
Published: June 2011

Abstract

Background
Osteochondromas (cartilage-capped bone tumors) are by far the most commonly treated of all primary benign bone tumors (50%). In 15% of cases, these tumors occur in the context of a hereditary syndrome called multiple osteochondromas (MO), an autosomal dominant skeletal disorder characterized by the formation of multiple cartilage-capped bone tumors at children's metaphyses. MO is caused by various mutations in EXT1 or EXT2, whereby large genomic deletions (single-or multi-exonic) are responsible for up to 8% of MO-cases.

Methods
Here we report on the first molecular characterization of ten large EXT1- and EXT2-deletions in MO-patients. Deletions were initially indentified using MLPA or FISH analysis and were subsequently characterized using an MO-specific tiling path array, allele-specific PCR-amplification and sequencing analysis.

Results
Within the set of ten large deletions, the deleted regions ranged from 2.7 to 260 kb. One EXT2 exon 8 deletion was found to be recurrent. All breakpoints were located outside the coding exons of EXT1 and EXT2. Non-allelic homologous recombination (NAHR) mediated by Alu-sequences, microhomology mediated replication dependent recombination (MMRDR) and non-homologous end-joining (NHEJ) were hypothesized as the causal mechanisms in different deletions.

Conclusions
Molecular characterization of EXT1- and EXT2-deletion breakpoints in MO-patients indicates that NAHR between Alu-sequences as well as NHEJ are causal and that the majority of these deletions are nonrecurring. These observations emphasize once more the huge genetic variability which is characteristic for MO. To our knowledge, this is the first study characterizing large genomic deletions in EXT1 and EXT2.
Ethnic differences in body fat distribution among Asian pre-pubertal children: A cross-sectional multicenter study
Authors: Liu Ailing , Byrne Nuala M , Kagawa Masaharu , Ma Guansheng , Kijboonchoo Kallaya , Nasreddine Lara , Koon Poh Bee , Ismail Mohammad Noor , Hills Andrew P 
Published: June 2011

Abstract

Background
Ethnic differences in body fat distribution contribute to ethnic differences in cardiovascular morbidities and diabetes. However few data are available on differences in fat distribution in Asian children from various backgrounds. Therefore, the current study aimed to explore ethnic differences in body fat distribution among Asian children from four countries.

Methods
A total of 758 children aged 8-10 y from China, Lebanon, Malaysia and Thailand were recruited using a non-random purposive sampling approach to enrol children encompassing a wide BMI range. Height, weight, waist circumference (WC), fat mass (FM, derived from total body water [TBW] estimation using the deuterium dilution technique) and skinfold thickness (SFT) at biceps, triceps, subscapular, supraspinale and medial calf were collected.

Results
After controlling for height and weight, Chinese and Thai children had a significantly higher WC than their Lebanese and Malay counterparts. Chinese and Thais tended to have higher trunk fat deposits than Lebanese and Malays reflected in trunk SFT, trunk/upper extremity ratio or supraspinale/upper extremity ratio after adjustment for age and total body fat. The subscapular/supraspinale skinfold ratio was lower in Chinese and Thais compared with Lebanese and Malays after correcting for trunk SFT.

Conclusions
Asian pre-pubertal children from different origins vary in body fat distribution. These results indicate the importance of population-specific WC cut-off points or other fat distribution indices to identify the population at risk of obesity-related health problems.
Modeling and measuring intracellular fluxes of secreted recombinant protein in Pichia pastoris with a novel 34S labeling procedure
Authors: Pfeffer Martin , Maurer Michael , Köllensperger Gunda , Hann Stephan , Graf Alexandra B , Mattanovich Diethard 
Published: June 2011

Abstract

Background
The budding yeast Pichia pastoris is widely used for protein production. To determine the best suitable strategy for strain improvement, especially for high secretion, quantitative data of intracellular fluxes of recombinant protein are very important. Especially the balance between intracellular protein formation, degradation and secretion defines the major bottleneck of the production system. Because these parameters are different for unlimited growth (shake flask) and carbon-limited growth (bioreactor) conditions, they should be determined under "production like" conditions. Thus labeling procedures must be compatible with minimal production media and the usage of bioreactors. The inorganic and non-radioactive 34S labeled sodium sulfate meets both demands.

Results
We used a novel labeling method with the stable sulfur isotope 34S, administered as sodium sulfate, which is performed during chemostat culivations. The intra- and extracellular sulfur 32 to 34 ratios of purified recombinant protein, the antibody fragment Fab3H6, are measured by HPLC-ICP-MS. The kinetic model described here is necessary to calculate the kinetic parameters from sulfur ratios of consecutive samples as well as for sensitivity analysis. From the total amount of protein produced intracellularly (143.1 μg g-1 h-1 protein per yeast dry mass and time) about 58% are degraded within the cell, 35% are secreted to the exterior and 7% are inherited to the daughter cells.

Conclusions
A novel 34S labeling procedure that enables in vivo quantification of intracellular fluxes of recombinant protein under "production like" conditions is described. Subsequent sensitivity analysis of the fluxes by using MATLAB, indicate the most promising approaches for strain improvement towards increased secretion.
Spatial patterns of malaria in a land reform colonization project, Juruena municipality, Mato Grosso, Brazil
Authors: de Oliveira Elaine Cristina , dos Santos Emerson Soares , Zeilhofer Peter , Souza-Santos Reinaldo , Atanaka-Santos Marina 
Published: June 2011

Abstract

Background
In Brazil, 99% of malaria cases are concentrated in the Amazon, and malaria's spatial distribution is commonly associated with socio-environmental conditions on a fine landscape scale. In this study, the spatial patterns of malaria and its determinants in a rural settlement of the Brazilian agricultural reform programme called "Vale do Amanhecer" in the northern Mato Grosso state were analysed.

Methods
In a fine-scaled, exploratory ecological study, geocoded notification forms corresponding to malaria cases from 2005 were compared with spectral indices, such as the Normalized Difference Vegetation Index (NDVI) and the third component of the Tasseled Cap Transformation (TC_3) and thematic layers, derived from the visual interpretation of multispectral TM-Landsat 5 imagery and the application of GIS distance operators.

Results
Of a total of 336 malaria cases, 102 (30.36%) were caused by Plasmodium falciparum and 174 (51.79%) by Plasmodium vivax. Of all the cases, 37.6% (133 cases) were from residents of a unique road. In total, 276 cases were reported for the southern part of the settlement, where the population density is higher, with notification rates higher than 10 cases per household. The local landscape mostly consists of open areas (38.79 km²). Training forest occupied 27.34 km² and midsize vegetation 7.01 km². Most domiciles with more than five notified malaria cases were located near areas with high NDVI values. Most domiciles (41.78%) and malaria cases (44.94%) were concentrated in areas with intermediate values of the TC_3, a spectral index representing surface and vegetation humidity.

Conclusions
Environmental factors and their alteration are associated with the occurrence and spatial distribution of malaria cases in rural settlements.
Longitudinal association of physical activity and sedentary behavior during leisure time with health-related quality of life in community-dwelling older adults
Authors: Balboa-Castillo Teresa , León-Muñoz Luz M , Graciani Auxiliadora , Rodríguez-Artalejo Fernando , Guallar-Castillón Pilar 
Published: June 2011

Abstract

Background
Evidence on the relation between leisure-time physical activity (LTPA) and health-related quality of life (HRQoL) in older adults is based primarily on clinical trials of physical exercise programs in institutionalized persons and on cross-sectional studies of community-dwelling persons. Moreover, there is no evidence on whether leisure-time sedentary behavior (LTSB) is associated with HRQoL independently of LTPA. This study examined the longitudinal association between LTPA, LTSB, and HRQoL in older community-dwelling adults in Spain.

Methods
Prospective cohort study of 1,097 persons aged 62 and over. In 2003 LTPA in MET-hr/week was measured with a validated questionnaire, and LTSB was estimated by the number of sitting hours per week. In 2009 HRQoL was measured with the SF-36 questionnaire. Analyses were done with linear regression and adjusted for the main confounders.

Results
Compared with those who did no LTPA, subjects in the upper quartile of LTPA had better scores on the SF-36 scales of physical functioning (β 5.65; 95% confidence interval [CI] 1.32-9.98; p linear trend < 0.001), physical role (β 7.38; 95% CI 0.16-14.93; p linear trend < 0.001), bodily pain (β 6.92; 95% CI 1.86-11.98; p linear trend < 0.01), vitality (β 5.09; 95% CI 0.76-9.41; p linear trend < 0.004) social functioning (β 7.83; 95% CI 2.89-12.75; p linear trend < 0.001), emotional role (β 8.59; 95% CI 1.97-15.21; p linear trend < 0.02) and mental health (β 4.20; 95% CI 0.26-8.13; p linear trend < 0.06). As suggested by previous work in this field, these associations were clinically relevant because the β regression coefficients were higher than 3 points. Finally, the number of sitting hours showed a gradual and inverse relation with the scores on most of the SF-36 scales, which was also clinically relevant.

Conclusions
Greater LTPA and less LTSB were independently associated with better long-term HRQoL in older adults.
Evaluation of a reproductive health awareness program for adolescence in urban Tanzania-A quasi-experimental pre-test post-test research
Authors: Madeni Frida , Horiuchi Shigeko , Iida Mariko 
Published: June 2011

Abstract

Background
Sub-Saharan Africa is among the countries where 10% of girls become mothers by the age of 16 years old. The United Republic of Tanzania located in Sub-Saharan Africa is one country where teenage pregnancy is a problem facing adolescent girls. Adolescent pregnancy has been identified as one of the reasons for girls dropping out from school. This study's purpose was to evaluate a reproductive health awareness program for the improvement of reproductive health for adolescents in urban Tanzania.

Methods
A quasi-experimental pre-test and post-test research design was conducted to evaluate adolescents' knowledge, attitude, and behavior about reproductive health before and after the program. Data were collected from students aged 11 to 16, at Ilala Municipal, Dar es Salaam, Tanzania. An anonymous 23-item questionnaire provided the data. The program was conducted using a picture drama, reproductive health materials and group discussion.

Results
In total, 313 questionnaires were distributed and 305 (97.4%) were useable for the final analysis. The mean age for girls was 12.5 years and 13.2 years for boys. A large minority of both girls (26.8%) and boys (41.4%) had experienced sex and among the girls who had experienced sex, 51.2% reported that it was by force. The girls' mean score in the knowledge pre-test was 5.9, and 6.8 in post-test, which increased significantly (t = 7.9, p = 0.000). The mean behavior pre-test score was 25.8 and post-test was 26.6, which showed a significant increase (t = 3.0, p = 0.003). The boys' mean score in the knowledge pre-test was 6.4 and 7.0 for the post-test, which increased significantly (t = 4.5, p = 0.000). The mean behavior pre-test score was 25.6 and 26.4 in post-test, which showed a significant increase (t = 2.4, p = 0.019). However, the pre-test and post-test attitude scores showed no statistically significant difference for either girls or boys.

Conclusions
Teenagers have sexual experiences including sexual violence. Both of these phenomena are prevalent among school-going adolescents. The reproductive health program improved the students' knowledge and behavior about sexuality and decision-making after the program for both girls and boys. However, their attitudes about reproductive health were not likely to change based on the educational intervention as designed for this study.
Molecular epidemiology of dengue viruses in southern China from 1978 to 2006
Authors: Wu Weili , Bai Zhijun , Zhou Houqing , Tu Zeng , Fang Meiyu , Tang Boheng , Liu Jinhua , Liu Licheng , Liu Jianwei , Chen Weijun 
Published: June 2011

Abstract
To investigate molecular epidemiology of dengue viruses (DENV) in southern China, a total of 14 dengue isolates were collected in southern China during each epidemic year between 1978 and 2006 and their full-length genome sequences were obtained by using RT-PCR method. The E gene sequences from additional 6 dengue fever patients in Guangzhou in 2006 were also obtained by using RT-PCR method. Combined with DENVs sequences published in GenBank, phylogenetic analysis and recombination analysis were performed. One hundred and twenty-five E gene sequences and 60 complete genome sequences published in the GenBank were also involved. Phylogenetic analysis showed that there was a wide genetic diversity of DENVs isolated in southern China. DENV-1 strains exist in almost all of the clades of genotype I and IV except the Asia 1 clade of genotype I; DENV-2 stains are grouped into four of the five genotypes except American genotype. DENV-4 strains are grouped into 2 genotypes (I and II). Phylogenetic analysis also showed that all DENV-4 isolates and two DENV-2 isolates were closely related to the prior isolates from neighboring Southeast Asia countries. The DENV-1 strain isolated during the 2006 epidemic is highly homologous to the strains isolated during the 2001 epidemic.
Recombination analysis showed no inter-serotype recombination, but 22 intra-serotype recombination events were found across the 32 complete genomes of all Chinese isolates. The study suggested that dengue fever epidemic in Southern China over the past 30 years presented two important modes, 1) imported-cases-induced endemic prevalence; 2) endogenous epidemic outbreak with natural epidemic focus. Recombination may play an important role in dengue virus evolution and adaptation.
The assessment of efficacy of porcine reproductive respiratory syndrome virus inactivated vaccine based on the viral quantity and inactivation methods
Authors: Kim Hyunil , Kim Hye Kwon , Jung Jung Ho , Choi Yoo Jung , Kim Jiho , Um Chang Gyu , Hyun Su Bin , Shin Sungho , Lee Byeongchun , Jang Goo , Kang Bo Kyu , Moon Hyoung Joon , Song Dae Sub 
Published: June 2011

AbstractBackgroundThere have been many efforts to develop efficient vaccines for the control of porcine reproductive and respiratory syndrome virus (PRRSV). Although inactivated PRRSV vaccines are preferred for their safety, they are weak at inducing humoral immune responses and controlling field PRRSV infection, especially when heterologous viruses are involved.ResultsIn all groups, the sample to positive (S/P) ratio of IDEXX ELISA and the virus neutralization (VN) titer remained negative until challenge. While viremia did not reduce in the vaccinated groups, the IDEXX-ELISA-specific immunoglobulin G increased more rapidly and to significantly greater levels 7 days after the challenge in all the vaccinated groups compared to the non-vaccinated groups (p< 0.05). VN titer was significantly different in the 106PFU/mL PRRSV vaccine-inoculated and binary ethylenimine (BEI)-inactivated groups 22 days after challenge (p< 0.05). Consequently, the inactivated vaccines tested in this study provided weak memory responses with sequential challenge without any obvious active immune responses in the vaccinated pigs.ConclusionsThe inactivated vaccine failed to show the humoral immunity, but it showed different immune response after the challenge compared to mock group. Although the 106PFU/mL-vaccinated and BEI-inactivated groups showed significantly greater VN titers 22 days after challenge, all the groups were already negative for viremia.
Are fish immune systems really affected by parasites? an immunoecological study of common carp (Cyprinus carpio)
Authors: Rohlenová Karolína , Morand Serge , Hyršl Pavel , Tolarová Soňa , Flajšhans Martin , Šimková Andrea 
Published: June 2011

Abstract

Background
The basic function of the immune system is to protect an organism against infection in order to minimize the fitness costs of being infected. According to life-history theory, energy resources are in a trade-off between the costly demands of immunity and other physiological demands. Concerning fish, both physiology and immunity are influenced by seasonal changes (i.e. temporal variation) associated to the changes of abiotic factors (such as primarily water temperature) and interactions with pathogens and parasites. In this study, we investigated the potential associations between the physiology and immunocompetence of common carp (Cyprinus carpio) collected during five different periods of a given year. Our sampling included the periods with temporal variability and thus, it presented a different level in exposure to parasites. We analyzed which of two factors, seasonality or parasitism, had the strongest impact on changes in fish physiology and immunity.

Results
We found that seasonal changes play a key role in affecting the analyzed measurements of physiology, immunity and parasitism. The correlation analysis revealed the relationships between the measures of overall host physiology, immunity and parasite load when temporal variability effect was removed. When analyzing separately parasite groups with different life-strategies, we found that fish with a worse condition status were infected more by monogeneans, representing the most abundant parasite group. The high infection by cestodes seems to activate the phagocytes. A weak relationship was found between spleen size and abundance of trematodes when taking into account seasonal changes.

Conclusions
Even if no direct trade-off between the measures of host immunity and physiology was confirmed when taking into account the seasonality, it seems that seasonal variability affects host immunity and physiology through energy allocation in a trade-off between life important functions, especially reproduction and fish condition. Host immunity measures were not found to be in a trade-off with the investigated physiological traits or functions, but we confirmed the immunosuppressive role of 11-ketotestosterone on fish immunity measured by complement activity. We suggest that the different parasite life-strategies influence different aspects of host physiology and activate the different immunity pathways.
Potential role and mechanism of IFN-gamma inducible protein-10 on receptor activator of nuclear factor kappa-B ligand (RANKL) expression in rheumatoid arthritis
Authors: Lee Eun Young , Seo MiRan , Juhnn Yong-Sung , Kim Jeong Yeon , Hong Yoo Jin , Lee Yun Jong , Lee Eun Bong , Song Yeong Wook 
Published: June 2011

Abstract
Introduction
IFN-gamma inducible protein-10 (CXCL10), a member of the CXC chemokine family, and its receptor CXCR3 contribute to the recruitment of T cells from the blood stream into the inflamed joints and have a crucial role in perpetuating inflammation in rheumatoid arthritis (RA) synovial joints. Recently we showed the role of CXCL10 on receptor activator of nuclear factor kappa-B ligand (RANKL) expression in an animal model of RA and suggested the contribution to osteoclastogenesis. We tested the effects of CXCL10 on the expression of RANKL in RA synoviocytes and T cells, and we investigated which subunit of CXCR3 contributes to RANKL expression by CXCL10.

Methods
Synoviocytes derived from RA patients were kept in culture for 24 hours in the presence or absence of TNF-α. CXCL10 expression was measured by reverse transcriptase polymerase chain reaction (RT-PCR) of cultured synoviocytes. Expression of RANKL was measured by RT-PCR and western blot in cultured synoviocytes with or without CXCL10 and also measured in Jurkat/Hut 78 T cells and CD4+ T cells in the presence of CXCL10 or dexamethasone. CXCL10 induced RANKL expression in Jurkat T cells was tested upon the pertussis toxin (PTX), an inhibitor of Gi subunit of G protein coupled receptor (GPCR). The synthetic siRNA for Gαi2 was used to knock down gene expression of respective proteins.

Results
CXCL10 expression in RA synoviocytes was increased by TNF-α. CXCL10 slightly increased RANKL expression in RA synoviocytes, but markedly increased RANKL expression in Jurkat/Hut 78 T cell or CD4+ T cell. CXCL10 augmented the expression of RANKL by 62.6%, and PTX inhibited both basal level of RANKL (from 37.4 ± 16.0 to 18.9 ± 13.0%) and CXCL10-induced RANKL expression in Jurkat T cells (from 100% to 48.6 ± 27.3%). Knock down of Gαi2 by siRNA transfection, which suppressed the basal level of RANKL (from 61.8 ± 17.9% to 31.1 ± 15.9%) and CXCL10-induced RANKL expression (from 100% to 53.1 ± 27.1%) in Jurkat T cells, is consistent with PTX, which inhibited RANKL expression.

Conclusions
CXCL10 increased RANKL expression in CD4+ T cells and it was mediated by Gαi subunits of CXCR3. These results indicate that CXCL10 may have a potential role in osteoclastogenesis of RA synovial tissue and subsequent joint erosion.
Course of auditory vocal hallucinations in childhood: 5-year follow-up study
Authors: Bartels-Velthuis Agna A. , van de Willige Gerard , Jenner Jack A. , van Os Jim , Wiersma Durk 
Published: June 2011

BackgroundIn a baseline study among 7- and 8-year-old children with auditory vocal hallucinations, only limited functional impact was observed.AimsTo assess 5-year course and predictors of auditory vocal hallucinations, as well as 5-year incidence and its risk factors.MethodA sample of 337 children, 12 and 13 years of age, were reassessed on auditory vocal hallucinations and associated symptoms after a mean follow-up period of 5.1 years.ResultsThe 5-year persistence and incidence rates were 24% and 9% respectively, with more new cases arising in urban areas. Both persistent and incident auditory vocal hallucinations were associated with problem behaviour in the clinical range of psychopathology as measured with the Child Behavior Checklist, particularly at follow-up, as well as with other psychotic symptoms, particularly at baseline. Persistence was predicted by baseline auditory vocal hallucinations severity, particularly in terms of external attribution of voices and hearing multiple voices, and was associated with worse primary school test scores and lower secondary school level.ConclusionsFirst onset of auditory vocal hallucinations in middle childhood is not uncommon and is associated with psychopathological and behavioural comorbidity. Similarly, persistence of auditory vocal hallucinations in childhood is not uncommon and is associated with psychopathological, behavioural and cognitive alterations.