bluuebunny/crossref_metadata_2025_split huggingface dataset:
Reassessing the role of mitochondrial DNA mutations in autism spectrum disorder
Authors: Álvarez-Iglesias Vanesa , Mosquera-Miguel Ana , Cuscó Ivón , Carracedo Ángel , Pérez-Jurado Luis Alberto , Salas Antonio 
Published: April 2011

Abstract

Background
There is increasing evidence that impairment of mitochondrial energy metabolism plays an important role in the pathophysiology of autism spectrum disorders (ASD; OMIM number: 209850). A significant proportion of ASD cases display biochemical alterations suggestive of mitochondrial dysfunction and several studies have reported that mutations in the mitochondrial DNA (mtDNA) molecule could be involved in the disease phenotype.

Methods
We analysed a cohort of 148 patients with idiopathic ASD for a number of mutations proposed in the literature as pathogenic in ASD. We also carried out a case control association study for the most common European haplogroups (hgs) and their diagnostic single nucleotide polymorphisms (SNPs) by comparing cases with 753 healthy and ethnically matched controls.

Results
We did not find statistical support for an association between mtDNA mutations or polymorphisms and ASD.

Conclusions
Our results are compatible with the idea that mtDNA mutations are not a relevant cause of ASD and the frequent observation of concomitant mitochondrial dysfunction and ASD could be due to nuclear factors influencing mitochondrion functions or to a more complex interplay between the nucleus and the mitochondrion/mtDNA.
Association of kynurenine aminotransferase II gene C401T polymorphism with immune response in patients with meningitis
Authors: de Souza Fladjule Rejane Soares , Fontes Fabrícia Lima , da Silva Thayse Azevedo , Coutinho Leonam Gomes , Leib Stephen L , Agnez-Lima Lucymara Fassarella 
Published: April 2011

Abstract

Background
The kynurenine (KYN) pathway has been shown to be altered in several diseases which compromise the central nervous system (CNS) including infectious diseases such as bacterial meningitis (BM). The aim of this study was to assess single nucleotide polymorphisms (SNPs) in four genes of KYN pathway in patients with meningitis and their correlation with markers of immune response in BM.

Methods
One hundred and one individuals were enrolled in this study to investigate SNPs in the following genes: indoleamine-2,3-dioxygenase (IDO1 gene), kynureninase (KYNU gene), kynurenine aminotransferase I (CCBL1 gene), and kynurenine aminotransferase II (AADAT gene). SNP analyses were performed by primer-introduced restriction analysis-PCR (PIRA-PCR) followed by RFLP. Cytokines were measured using multiplex bead assay while immunoglobulins (IG) by immunodiffusion plates and NF-kappaB and c-Jun by dot blot assay.

Results
The variant allele of SNP AADAT+401C/T showed prevalent frequency in patients with BM. A significant decrease (p < 0.05) in TNF-α, IL-1β, IL-6, MIP-1αCCL3 and MIP-1β/CCL4 levels was observed in BM patients homozygous (TT) to the SNP AADAT+401C/T. Furthermore, a significant (p < 0.05) decrease in cell count was observed in cerebrospinal fluid (CSF) from patients with TT genotype. In addition, an increase in the IgG level in adults (p < 0.05) was observed. The variant allele for KYNU+715G/A was found with low frequency in the groups, and the SNPs in IDO1+434T/G, KYNU+693G/A, CCBL1+164T/C, and AADAT+650C/T had no frequency in this population.

Conclusions
This study is the first report of an association of SNP AADAT+401C/T with the host immune response to BM, suggesting that this SNP may affect the host ability in recruitment of leukocytes to the infection site. This finding may contribute to identifying potential targets for pharmacological intervention as adjuvant therapy for BM.
Effects of short-term treatment with atorvastatin in smokers with asthma - a randomized controlled trial
Authors: Braganza Georgina , Chaudhuri Rekha , McSharry Charles , Weir Christopher J , Donnelly Iona , Jolly Lisa , Lafferty Jane , Lloyd Suzanne M , Spears Mark , Mair Frances , Thomson Neil C 
Published: April 2011

AbstractBackgroundThe immune modulating properties of statins may benefit smokers with asthma. We tested the hypothesis that short-term treatment with atorvastatin improves lung function or indices of asthma control in smokers with asthma.MethodsSeventy one smokers with mild to moderate asthma were recruited to a randomized double-blind parallel group trial comparing treatment with atorvastatin (40 mg per day) versus placebo for 4 weeks. After 4 weeks treatment inhaled beclometasone (400 μg per day) was added to both treatment arms for a further 4 weeks. The primary outcome was morning peak expiratory flow after 4 weeks treatment. Secondary outcome measures included indices of asthma control and airway inflammation.ResultsAt 4 weeks, there was no improvement in the atorvastatin group compared to the placebo group in morning peak expiratory flow [-10.67 L/min, 95% CI -38.70 to 17.37, p = 0.449], but there was an improvement with atorvastatin in asthma quality of life score [0.52, 95% CI 0.17 to 0.87 p = 0.005]. There was no significant improvement with atorvastatin and inhaled beclometasone compared to inhaled beclometasone alone in outcome measures at 8 weeks.ConclusionsShort-term treatment with atorvastatin does not alter lung function but may improve asthma quality of life in smokers with mild to moderate asthma.Trial RegistrationClinicaltrials.gov identifier:NCT00463827
Proximity ligation in situ assay for monitoring the global DNA methylation in cells
Authors: Hervouet Eric , Hulin Philippe , Vallette François M , Cartron Pierre-François 
Published: April 2011

Abstract

Background
DNA methylation has a central role in the epigenetic control of mammalian gene expression, and is required for X inactivation, genomics imprinting and silencing of retrotransposons and repetitive sequences. Thus, several technologies have been developed to measure the degree of DNA methylation.

Results
We here present the development of the detection of protein-protein interactions via the adaptation of the proximity ligation in situ technology to evaluate the DNA methylation status in cells since the quantification of Dnmt1/PCNA interaction in cells reflects the degree of DNA methylation.

Conclusion
This method being directly realizable on cells, it appears that it could suggest a wide range of applications in basic research and drug development. More particularly, this method is specially adapted for the investigations realized from a weak quantity of biologic materiel such as stem cells or primary cultured tumor cells for examples.
A common polymorphism rs3781637 in MTNR1B is associated with type 2 diabetes and lipids levels in Han Chinese individuals
Authors: Ling Yan , Li Xiaomu , Gu Qian , Chen Hongyan , Lu Daru , Gao Xin 
Published: April 2011

AbstractBackgroundSeveral studies have shown that common variants in theMTNR1Bgene were associated with fasting glucose level and type 2 diabetes. The purpose of this study was to examine whether tagging single nucleotide polymorphisms (SNPs) in theMTNR1Bregion were associated with type 2 diabetes and related traits in a Han Chinese population.MethodsWe investigated the association of polymorphisms in theMTNR1Bgene with type 2 diabetes by employing a case-control study design (1118 cases and 1161 controls). Three tagging SNPs (rs10830963, rs3781637, and rs1562444) with R2>0.8 and minor allele frequency>0.05 across the region of theMTNR1Bgene were studied. Genotyping was performed by matrix-assisted laser desorption/ionization time-of-flight mass spectroscopy using a MassARRAY platform.ResultsThe polymorphism rs3781637 was associated with type 2 diabetes adjusted for age, sex and body mass index (BMI) in the additive model and recessive model (OR = 1.22, 95% CI 1.01-1.46, p = 0.038 and OR = 2.81, 95% CI 1.28-6.17, p = 0.01, respectively). In the non-diabetic controls, rs3781637 was nominally associated with plasma triglyceride, total cholesterol and low density lipoprotein cholesterol (LDL-C) levels in the recessive model (p = 0.018, 0.008 and 0.038, respectively). After adjustment for multiple comparisons, the associations of rs3781637 with total cholesterol and LDL-C remained significant in the recessive model (the empirical p = 0.024 and 0.045, respectively), but the association between rs3781637 and triglyceride became non-significant (the empirical p = 0.095). The associations of rs10830963 and rs1562444 with type 2 diabetes and related traits were not significant in the additive, dominant and recessive models.ConclusionsThe rs3781637 A/G polymorphism of theMTNR1Bgene is associated with type 2 diabetes, plasma, total cholesterol and LDL-C levels in the Han Chinese population.
Users' and health service providers' perception on quality of laboratory malaria diagnosis in Tanzania
Authors: Derua Yahya A , Ishengoma Deus RS , Rwegoshora Rwehumbiza T , Tenu Filemoni , Massaga Julius J , Mboera Leonard EG , Magesa Stephen M 
Published: April 2011

Abstract

Background
Correct diagnosis of malaria is crucial for proper treatment of patients and surveillance of the disease. However, laboratory diagnosis of malaria in Tanzania is constrained by inadequate infrastructure, consumables and insufficient skilled personnel. Furthermore, the perceptions and attitude of health service providers (laboratory personnel and clinicians) and users (patients/care-takers) on the quality of laboratory services also present a significant challenge in the utilization of the available services. This study was conducted to assess perceptions of users and health-care providers on the quality and utilization of laboratory malaria diagnostic services in six districts from three regions in Tanzania.

Methods
Questionnaires were used to collect information from laboratory personnel, clinicians and patients or care-takers.

Results
A total of 63 laboratory personnel, 61 clinicians and 753 patients/care-takers were interviewed. Forty-six (73%) laboratory personnel claimed to be overworked, poorly motivated and that their laboratories were under-equipped. About 19% (N = 12) of the laboratory personnel were lacking professional qualification. Thirty-seven clinicians (60.7%) always requested for blood smear examination to confirm malaria. Only twenty five (41.0%) clinicians considered malaria microscopy results from their respective laboratories to be reliable. Forty-five (73.8%) clinicians reported to have been satisfied with malaria diagnostic services provided by their respective laboratories. Majority (90.2%, N = 679) of the patients or care-takers were satisfied with the laboratory services.

Conclusion
The findings show that laboratory personnel were not satisfied with the prevailing working conditions, which were reported to undermine laboratory performance. It was evident that there was no standard criteria for ordering malaria laboratory tests and test results were under-utilized. Majority of the clinicians and patients or care-takers were comfortable with the overall performance of laboratories, but laboratory results were having less impact on patient management.
Traditional medicines as a mechanism for driving research innovation in Africa
Authors: Addae-Mensah Ivan , Fakorede Foluke , Holtel Andreas , Nwaka Solomon 
Published: April 2011

Abstract
The outcomes from recent high profile deliberations concerning African health research and economic development all point towards the need for a mechanism to support health innovation on the continent. The mission of the African Network for Drugs and Diagnostics Innovation (ANDI), is to promote and sustain African-led health product innovation to address African public health needs through the assembly of research networks, and building of capacity to support human and economic development. ANDI is widely viewed as the vehicle to implementing some of these recommendations. There is tremendous opportunity for Africa, to leverage the expertise in natural products and traditional medicines in support of this objective to kick-start innovation. This report highlights key recommendations that have emerged through expert forums convened by ANDI on the challenges, opportunities and prospects for investing in this important area of research.
Embryo implantation is closely associated with dynamic expression of proprotein convertase 5/6 in the rabbit uterus
Authors: Nicholls Peter K , Sun Zhaogui , Heng Sophea , Li Ying , Wang Jian , Nie Guiying 
Published: April 2011

Abstract

Background
Proprotein convertase 5/6 (PC5/6) is critical for embryo implantation in women, regulating both uterine epithelial receptivity and stromal cell decidualization. PC5/6 is likewise essential for implantation in mice, but involved only in decidualization. An alternative animal model is required to address the function of PC5/6 in the uterine epithelium. This study aimed to establish whether PC5/6 is associated with embryo implantation in rabbits.

Methods
Virgin New-Zealand white rabbits aged 3-4 moths were mated with males of the same strain, or pseudo-pregnancy induced. After mating, uterine tissues were collected over a 10 day (d) period (n = 3 per time point) for RNA, protein and histological analyses to determine the temporal and spatial uterine expression pattern of PC5/6 during the initial stages of pregnancy or induced pseudo-pregnancy.

Results
PC5/6 mRNA was up-regulated just prior to embryo attachment on d6, and the elevated expression was maintained throughout implantation on d6.5-10. Western analysis revealed a preferential up-regulation of PC5/6 in the implantation sites. Immunohistochemical analysis identified that both the amount and cellular localization of PC5/6 changed with increasing pregnancy stages. Before embryo attachment, PC5/6 was low and localised in the luminal and glandular epithelium. It increased on d6.5 in the basal glands and mucosal folds, and then strongly intensified on d7-10 in the multinucleated luminal symplasma and decidual cells at the site of embryo implantation. In contrast, the pseudo-pregnant uterus displayed relatively low and static PC6 mRNA expression throughout the 10 days, with no obvious changes in either PC5/6 level or cellular localization.

Conclusions
These findings demonstrate that embryo implantation in the rabbit is closely associated with dynamic expression of uterine PC5/6, and that the rabbit may be an appropriate model to investigate the function of PC5/6 in the uterine epithelium during embryo attachment.
Biocompatibility of hydrophilic silica-coated CdTe quantum dots and magnetic nanoparticles
Authors: Ruan Jing , Wang Kan , Song Hua , Xu Xin , Ji Jiajia , Cui Daxiang 
Published: April 2011

AbstractFluorescent magnetic nanoparticles exhibit great application prospects in biomedical engineering. Herein, we reported the effects of hydrophilic silica-coated CdTe quantum dots and magnetic nanoparticles (FMNPs) on human embryonic kidney 293 (HEK293) cells and mice with the aim of investigating their biocompatibility. FMNPs with 150 nm in diameter were prepared, and characterized by high-resolution transmission electron microscopy and photoluminescence (PL) spectra and magnetometer. HEK293 cells were cultured with different doses of FMNPs (20, 50, and 100μ g/ml) for 1-4 days. Cell viability and adhesion ability were analyzed by CCK8 method and Western blotting. 30 mice were randomly divided into three groups, and were, respectively, injected via tail vein with 20, 60, and 100 μg FMNPs, and then were, respectively, raised for 1, 7, and 30 days, then their lifespan, important organs, and blood biochemical parameters were analyzed. Results show that the prepared water-soluble FMNPs had high fluorescent and magnetic properties, less than 50 μg/ml of FMNPs exhibited good biocompatibility to HEK293 cells, the cell viability, and adhesion ability were similar to the control HEK293 cells. FMNPs primarily accumulated in those organs such as lung, liver, and spleen. Lung exposed to FMNPs displayed a dose-dependent inflammatory response, blood biochemical parameters such as white blood cell count (WBC), alanine aminotransferase (ALT), and aspartate aminotransferase (AST), displayed significant increase when the FMNPs were injected into mice at dose of 100μg. In conclusion, FMNPs exhibit good biocompatibility to cells under the dose of less than 50 μg/ml, and to mice under the dose of less than 2mg/kg body weight. The FMNPs' biocompatibility must be considered when FMNPs are used for in vivo diagnosis and therapy.
Effect of the carbon nanotube surface characteristics on the conductivity and dielectric constant of carbon nanotube/poly(vinylidene fluoride) composites
Authors: Carabineiro Sónia AC , Pereira Manuel FR , Pereira João N , Caparros Cristina , Sencadas Vitor , Lanceros-Mendez Senentxu 
Published: April 2011

AbstractCommercial multi-walled carbon nanotubes (CNT) were functionalized by oxidation with HNO3, to introduce oxygen-containing surface groups, and by thermal treatments at different temperatures for their selective removal. The obtained samples were characterized by adsorption of N2 at -196°C, temperature-programmed desorption and determination of pH at the point of zero charge. CNT/poly(vinylidene fluoride) composites were prepared using the above CNT samples, with different filler fractions up to 1 wt%. It was found that oxidation reduced composite conductivity for a given concentration, shifted the percolation threshold to higher concentrations, and had no significant effect in the dielectric response.
Synthesis of carbon nanotubes with and without catalyst particles
Authors: Rümmeli Mark Hermann , Bachmatiuk Alicja , Börrnert Felix , Schäffel Franziska , Ibrahim Imad , Cendrowski Krzysztof , Simha-Martynkova Grazyna , Plachá Daniela , Borowiak-Palen Ewa , Cuniberti Gianaurelio , Büchner Bernd 
Published: April 2011

AbstractThe initial development of carbon nanotube synthesis revolved heavily around the use of 3d valence transition metals such as Fe, Ni, and Co. More recently, noble metals (e.g. Au) and poor metals (e.g. In, Pb) have been shown to also yield carbon nanotubes. In addition, various ceramics and semiconductors can serve as catalytic particles suitable for tube formation and in some cases hybrid metal/metal oxide systems are possible. All-carbon systems for carbon nanotube growth without any catalytic particles have also been demonstrated. These different growth systems are briefly examined in this article and serve to highlight the breadth of avenues available for carbon nanotube synthesis.
Fabrication of functional micro- and nanoneedle electrodes using a carbon nanotube template and electrodeposition
Authors: An Taechang , Choi WooSeok , Lee Eunjoo , Kim In-tae , Moon Wonkyu , Lim Geunbae 
Published: April 2011

AbstractCarbon nanotube (CNT) is an attractive material for needle-like conducting electrodes because it has high electrical conductivity and mechanical strength. However, CNTs cannot provide the desired properties in certain applications. To obtain micro- and nanoneedles having the desired properties, it is necessary to fabricate functional needles using various other materials. In this study, functional micro- and nanoneedle electrodes were fabricated using a tungsten tip and an atomic force microscope probe with a CNT needle template and electrodeposition. To prepare the conductive needle templates, a single-wall nanotube nanoneedle was attached onto the conductive tip using dielectrophoresis and surface tension. Through electrodeposition, Au, Ni, and polypyrrole were each coated successfully onto CNT nanoneedle electrodes to obtain the desired properties.
Combining scanning probe microscopy and x-ray spectroscopy
Authors: Fauquet Carole , Dehlinger Maël , Jandard Franck , Ferrero Sylvain , Pailharey Daniel , Larcheri Sylvia , Graziola Roberto , Purans Juris , Bjeoumikhov Aniouar , Erko Alexei , Zizak Ivo , Dahmani Brahim , Tonneau Didier 
Published: April 2011

AbstractA new versatile tool, combining Shear Force Microscopy and X-Ray Spectroscopy was designed and constructed to obtain simultaneously surface topography and chemical mapping. Using a sharp optical fiber as microscope probe, it is possible to collect locally the visible luminescence of the sample. Results of tests on ZnO and on ZnWO4 thin layers are in perfect agreement with that obtained with other conventional techniques. Twin images obtained by simultaneous acquisition in near field of surface topography and of local visible light emitted by the sample under X-Ray irradiation in synchrotron environment are shown. Replacing the optical fibre by an X-ray capillary, it is possible to collect local X-ray fluorescence of the sample. Preliminary results on Co-Ti sample analysis are presented.
Friction-induced nanofabrication method to produce protrusive nanostructures on quartz
Authors: Song Chenfei , Li Xiaoying , Yu Bingjun , Dong Hanshan , Qian Linmao , Zhou Zhongrong 
Published: April 2011

AbstractIn this paper, a new friction-induced nanofabrication method is presented to fabricate protrusive nanostructures on quartz surfaces through scratching a diamond tip under given normal loads. The nanostructures, such as nanodots, nanolines, surface mesas and nanowords, can be produced on the target surface by programming the tip traces according to the demanded patterns. The height of these nanostructures increases with the increase of the number of scratching cycles or the normal load. Transmission electron microscope observations indicated that the lattice distortion and dislocations induced by the mechanical interaction may have played a dominating role in the formation of the protrusive nanostructures on quartz surfaces. Further analysis reveals that during scratching, a contact pressure ranged from 0.4Py to Py (Py is the critical yield pressure of quartz) is apt to produce protuberant nanostructures on quartz under the given experimental conditions. Finally, it is of great interest to find that the protrusive nanostructures can be selectively dissolved in 20% KOH solution. Since the nanowords can be easily 'written' by friction-induced fabrication and 'erased' through selective etching on a quartz surface, this friction-induced method opens up new opportunities for future nanofabrication.
An investigation into the conversion of In2O3 into InN nanowires
Authors: Papageorgiou Polina , Zervos Matthew , Othonos Andreas 
Published: April 2011

AbstractStraight In2O3 nanowires (NWs) with diameters of 50 nm and lengths ≥2 μm have been grown on Si(001) via the wet oxidation of In at 850°C using Au as a catalyst. These exhibited clear peaks in the X-ray diffraction corresponding to the body centred cubic crystal structure of In2O3 while the photoluminescence (PL) spectrum at 300 K consisted of two broad peaks, centred around 400 and 550 nm. The post-growth nitridation of In2O3 NWs was systematically investigated by varying the nitridation temperature between 500 and 900°C, flow of NH3 and nitridation times between 1 and 6 h. The NWs are eliminated above 600°C while long nitridation times at 500 and 600°C did not result into the efficient conversion of In2O3 to InN. We find that the nitridation of In2O3 is effective by using NH3 and H2 or a two-step temperature nitridation process using just NH3 and slower ramp rates. We discuss the nitridation mechanism and its effect on the PL.