bluuebunny/crossref_metadata_2025_split huggingface dataset:
Large scale copy number variation (CNV) at 14q12 is associated with the presence of genomic abnormalities in neoplasia
Authors: Braude Ilan , Vukovic Bisera , Prasad Mona , Marrano Paula , Turley Stefanie , Barber Dwayne , Zielenska Maria , Squire Jeremy A 
Published: June 2006

Abstract

Background
Advances made in the area of microarray comparative genomic hybridization (aCGH) have enabled the interrogation of the entire genome at a previously unattainable resolution. This has lead to the discovery of a novel class of alternative entities called large-scale copy number variations (CNVs). These CNVs are often found in regions of closely linked sequence homology called duplicons that are thought to facilitate genomic rearrangements in some classes of neoplasia. Recently, it was proposed that duplicons located near the recurrent translocation break points on chromosomes 9 and 22 in chronic myeloid leukemia (CML) may facilitate this tumor-specific translocation. Furthermore, ~15–20% of CML patients also carry a microdeletion on the derivative 9 chromosome (der(9)) and these patients have a poor prognosis. It has been hypothesised that der(9) deletion patients have increased levels of chromosomal instability.

Results
In this study aCGH was performed and identified a CNV (RP11-125A5, hereafter called CNV14q12) that was present as a genomic gain or loss in 10% of control DNA samples derived from cytogenetically normal individuals. CNV14q12 was the same clone identified by Iafrate et al. as a CNV. Real-time polymerase chain reaction (Q-PCR) was used to determine the relative frequency of this CNV in DNA from a series of 16 CML patients (both with and without a der(9) deletion) together with DNA derived from 36 paediatric solid tumors in comparison to the incidence of CNV in control DNA. CNV14q12 was present in ~50% of both tumor and CML DNA, but was found in 72% of CML bearing a der(9) microdeletion. Chi square analysis found a statistically significant difference (p ≤ 0.001) between the incidence of this CNV in cancer and normal DNA and a slightly increased incidence in CML with deletions in comparison to those CML without a detectable deletion.

Conclusion
The increased incidence of CNV14q12 in tumor samples suggests that either acquired or inherited genomic variation of this new class of variation may be associated with onset or progression of neoplasia.
Under- treatment and under diagnosis of hypertension: a serious problem in the United Arab Emirates
Authors: Abdulle Abdishakur M , Nagelkerke Nico JD , Abouchacra Samra , Pathan Javed Y , Adem Abdu , Obineche Enyioma N 
Published: June 2006

Abstract

Background
Hypertension, notably untreated or uncontrolled, is a major risk factor for cardiovascular diseases (CVD) morbidity and mortality. In countries in transition, little is known about the epidemiology of hypertension, and its biochemical correlates. This study was carried out in Al Ain, United Arab Emirates, to characterize self-reported (SR) normotensives and hypertensives in terms of actual hypertension status, demographic variables, CVD risk factors, treatment, and sequalae.

Methods
A sample, stratified by SR hypertensive status, of 349 SR hypertensives (Mean age ± SD; 50.8 ± 9.2 yrs; Male: 226) and 640 SR normotensives (42.9 ± 9.3 yrs, Male: 444) among nationals and expatriates was used. Hypertensives and normotensive subjects were recruited from various outpatient clinics and government organizations in Al-Ain city, United Arab Emirates (UAE) respectively. Anthropometric and demographic variables were measured by conventional methods.

Results
Both under-diagnosis of hypertension (33%) and under-treatment (76%) were common. Characteristics of undiagnosed hypertensives were intermediate between normotensives and SR hypertensives. Under-diagnosis of hypertension was more common among foreigners than among nationals. Risk factors for CVD were more prevalent among SR hypertensives. Obesity, lack of exercise and smoking were found as major risk factors for CVD among hypertensives in this population.

Conclusion
Hypertension, even severe, is commonly under-diagnosed and under-treated in the UAE. Preventive strategies, better diagnosis and proper treatment compliance should be emphasized to reduce incidence of CVD in this population.
Overexpression of connexin 43 using a retroviral vector improves electrical coupling of skeletal myoblasts with cardiac myocytes in vitro
Authors: Tolmachov Oleg , Ma Yu-Ling , Themis Michael , Patel Pravina , Spohr Hilmar , MacLeod Kenneth T , Ullrich Nina D , Kienast Yvonne , Coutelle Charles , Peters Nicholas S 
Published: June 2006

Abstract

Background
Organ transplantation is presently often the only available option to repair a damaged heart. As heart donors are scarce, engineering of cardiac grafts from autologous skeletal myoblasts is a promising novel therapeutic strategy. The functionality of skeletal muscle cells in the heart milieu is, however, limited because of their inability to integrate electrically and mechanically into the myocardium. Therefore, in pursuit of improved cardiac integration of skeletal muscle grafts we sought to modify primary skeletal myoblasts by overexpression of the main gap-junctional protein connexin 43 and to study electrical coupling of connexin 43 overexpressing myoblasts to cardiac myocytes in vitro.

Methods
To create an efficient means for overexpression of connexin 43 in skeletal myoblasts we constructed a bicistronic retroviral vector MLV-CX43-EGFP expressing the human connexin 43 cDNA and the marker EGFP gene. This vector was employed to transduce primary rat skeletal myoblasts in optimised conditions involving a concomitant use of the retrovirus immobilising protein RetroNectin® and the polycation transduction enhancer Transfectam®. The EGFP-positive transduced cells were then enriched by flow cytometry.

Results
More than four-fold overexpression of connexin 43 in the transduced skeletal myoblasts, compared with non-transduced cells, was shown by Western blotting. Functionality of the overexpressed connexin 43 was demonstrated by microinjection of a fluorescent dye showing enhanced gap-junctional intercellular transfer in connexin 43 transduced myoblasts compared with transfer in non-transduced myoblasts. Rat cardiac myocytes were cultured in multielectrode array culture dishes together with connexin 43/EGFP transduced skeletal myoblasts, control non-transduced skeletal myoblasts or alone. Extracellular field action potential activation rates in the co-cultures of connexin 43 transduced skeletal myoblasts with cardiac myocytes were significantly higher than in the co-cultures of non-transduced skeletal myoblasts with cardiac myocytes and similar to the rates in pure cultures of cardiac myocytes.

Conclusion
The observed elevated field action potential activation rate in the co-cultures of cardiac myocytes with connexin 43 transduced skeletal myoblasts indicates enhanced cell-to-cell electrical coupling due to overexpression of connexin 43 in skeletal myoblasts. This study suggests that retroviral connexin 43 transduction can be employed to augment engineering of the electrocompetent cardiac grafts from patients' own skeletal myoblasts.
The functional "KL-VS" variant of KLOTHO is not associated with type 2 diabetes in 5028 UK Caucasians
Authors: Freathy Rachel M , Weedon Michael N , Melzer David , Shields Beverley , Hitman Graham A , Walker Mark , McCarthy Mark I , Hattersley Andrew T , Frayling Timothy M 
Published: June 2006

Abstract

Background
Klotho has an important role in insulin signalling and the development of ageing-like phenotypes in mice. The common functional "KL-VS" variant in the KLOTHO (KL) gene is associated with longevity in humans but its role in type 2 diabetes is not known. We performed a large case-control and family-based study to test the hypothesis that KL-VS is associated with type 2 diabetes in a UK Caucasian population.

Methods
We genotyped 1793 cases, 1619 controls and 1616 subjects from 509 families for the single nucleotide polymorphism (SNP) F352V (rs9536314) that defines the KL-VS variant. Allele and genotype frequencies were compared between cases and controls. Family-based analysis was used to test for over- or under-transmission of V352 to affected offspring.

Results
Despite good power to detect odds ratios of 1.2, there were no significant associations between alleles or genotypes and type 2 diabetes (V352 allele: odds ratio = 0.96 (0.84–1.09)). Additional analysis of quantitative trait data in 1177 healthy control subjects showed no association of the variant with fasting insulin, glucose, triglycerides, HDL- or LDL-cholesterol (all P > 0.05). However, the HDL-cholesterol levels observed across the genotype groups showed a similar, but non-significant, pattern to previously reported data.

Conclusion
This is the first large-scale study to examine the association between common functional variation in KL and type 2 diabetes risk. We have found no evidence that the functional KL-VS variant is a risk factor for type 2 diabetes in a large UK Caucasian case-control and family-based study.
Inter-relationship between microsatellite instability, thymidylate synthase expression, and p53 status in colorectal cancer: implications for chemoresistance
Authors: Popat Sanjay , Wort Richard , Houlston Richard S 
Published: June 2006

Abstract

Background
Studies indicate that thymidylate synthase (TS) expression, p53 and mismatch repair status have potential to influence colorectal cancer (CRC) outcome. There is, however, little data on the inter-relationship between these three markers. We sought to investigate whether relationships exist between these markers that might contribute to CRC phenotypes.

Methods
Four hundred and forty-one stage I-III CRCs were investigated. p53 status and TS expression were assessed by standard immunohistochemistry methods. Mismatch repair status was determined by assessment of microsatellite instability (MSI) using radiolabelled microsatellite genotyping.

Results
244 tumours (55%) over-expressed p53, and 259 (58%) expressed high TS levels. 65 tumours (15%) had MSI. A significant relationship between p53 over-expression and high TS expression was observed (p = 0.01). This was independent of MSI status. A highly significant inverse relationship between MSI and p53 status was observed (p = 0.001). No relationship was seen between MSI status and TS expression (p = 0.59).

Conclusion
Relationships exist between p53 status and TS expression, and MSI and p53 status. These inter-relationships may contribute to the clinical phenotype of CRCs associated with each of the molecular markers. High TS expression is unlikely to account for the clinical behaviour of CRCs with MSI.
Efficacy of topical cobalt chelate CTC-96 against adenovirus in a cell culture model and against adenovirus keratoconjunctivitis in a rabbit model
Authors: Epstein Seth P , Pashinsky Yevgenia Y , Gershon David , Winicov Irene , Srivilasa Charlie , Kristic Katarina J , Asbell Penny A 
Published: June 2006

Abstract

Background
Adenovirus (Ad), associated with significant morbidity, has no topical treatment. A leading CTC compound (CTC-96), a CoIII chelate, was found to have potent in vitro and in vivo antiviral efficacy against herpes viruses. In this study CTC-96 is being tested for possible anti-Adenovirus activity.

Methods
The biological anti-adenovirus activity of CTC-96 in concentrations from 5 to 250 ug/ml, was evaluated initially by viral inactivation (viral exposure to CTC-96 followed by dilution and inoculation of cells), virucidal (viral exposure to CTC-96 and inoculation of cells without dilution) and antiviral (effect of CTC-96 on previously adsorbed virus) plaque assays on HeLa (human cervical carcinoma), A549 (human lung carcinoma) and SIRC (rabbit corneal) cells. After verifying the antiviral activity, New Zealand White rabbits were infected with Ad-5 into: 1) the anterior cul-de-sac scarifying the conjunctiva (Group "C+"); 2) the anterior cul-de-sac scarifying the conjunctiva and cornea (Group "CC+"); 3) the stroma (Group "CI+"). Controls were sham-infected ("C-", "CC-", "CI-"). Other rabbits, after "CC", were treated for 21 days with: 1) placebo, 9x/day ("-"); 2) CTC-96, 50 ug/ml, 9x/day ("50/9"); CTC-96, 50 ug/ml, 6x/day ("50/6"); CTC-96, 25 ug/ml, 6x/day ("25/6"). All animals were monitored via examination and plaque assays.

Results

In vitro viral inactivation, virucidal and antiviral assays all demonstrated CTC-96 to be effective against Adenvirus type 5 (ad-5). The in vivo model of Ad keratoconjunctivitis most similar to human disease and producing highest viral yield was "CC". All eyes (6/6) developed acute conjunctivitis. "CI" yielded more stromal involvement (1/6) and iritis (5/6), but lower clinical scores (area × severity). Infection via "C" was inconsistent (4/6). Fifty (50) ug/ml was effective against Ad-5 at 6x, 9x dosings while 25 ug/ml (6x) was only marginally effective.

Conclusion
CTC-96 demonstrated virucidal activity against Ad5 in tissue culture with HeLa, A549 and SIRC cell lines.
Animal Model Development: 1) "CC" produced conjunctival infection with occasional keratitis similar to human disease; "CI" yielded primarily stromal involvement; 2) "C" consistently produced neither conjunctivitis nor keratitis.
CTC Testing: 1) Conjunctivitis in all eyes; 2) Resolution fastest in "50/9" ("50/9". "50/6" > "25/6" > "-"); 3) Efficacy in "50/6" was not statistically different than "50/9"; 4) Conjunctival severity was lower in treatment groups then controls; 5) Little corneal or intra-ocular changes were noted.
Validity of new child-specific thoracic gas volume prediction equations for air-displacement plethysmography
Authors: Higgins Paul B , Silva Analiza M , Sardinha Luis B , Hull Holly R , Goran Michael I , Gower Barbara A , Fields David A 
Published: June 2006

Abstract

Background
To determine the validity of the recently developed child-specific thoracic gas volume (TGV) prediction equations for use in air-displacement plethysmography (ADP) in diverse pediatric populations.

Methods
Three distinct populations were studied: European American and African American children living in Birmingham, Alabama and European children living in Lisbon, Portugal. Each child completed a standard ADP testing protocol, including a measured TGV according to the manufactures software criteria. Measured TGV was compared to the predicted TGV from current adult-based ADP proprietary equations and to the recently developed child-specific TGV equations of Fields et al. Similarly, percent body fat, derived using the TGV prediction equations, was compared to percent body fat derived using measured TGV.

Results
Predicted TGV from adult-based equations was significantly different from measured TGV in girls from each of the three ethnic groups (P < 0.05), however child-specific TGV estimates did not significantly differ from measured TGV in any of the ethnic or gender groups. Percent body fat estimates using adult-derived and child-specific TGV estimates did not differ significantly from percent body fat measures using measured TGV in any of the groups.

Conclusion
The child-specific TGV equations developed by Fields et al. provided a modest improvement over the adult-based TGV equations in an ethnically diverse group of children.
Development and preliminary validation of a Greek-language outpatient satisfaction questionnaire with principal components and multi-trait analyses
Authors: Aletras Vassilis H , Papadopoulos Efthemis A , Niakas Dimitris A 
Published: June 2006

Abstract

Background
In the recent years there is a growing interest in Greece concerning the measurement of the satisfaction of patients who are visiting the outpatient clinics of National Health System (NHS) general acute hospitals. The aim of this study is therefore to develop a patient satisfaction questionnaire and provide its preliminary validation.

Methods
A questionnaire in Greek has been developed by literature review, researchers' on the spot observation and interviews. Pretesting has been followed by telephone surveys in two short-term general NHS hospitals in Macedonia, Greece. A proportional stratified random sample of 285 subjects and a second random sample of 100 outpatients, drawn on March 2004, have been employed for the analysis. These have resulted in scale creation via Principal Components Analysis and psychometric testing for internal consistency, test-retest and interrater reliability as well as construct validity.

Results
Four summated scales have emerged regarding the pure outpatient component of the patients' visits, namely medical examination, hospital environment, comfort and appointment time. Cronbach's alpha coefficients and Pearson, Spearman and intraclass correlations indicate a high degree of scale reliability and validity. Two other scales -lab appointment time and lab experience- capture the apparently distinct yet complementary visitor experience related to the radiographic and laboratory tests. Psychometric tests are equally promising, however, some discriminant validity differences lack statistical significance.

Conclusion
The instrument appears to be reliable and valid regarding the pure outpatient experience, whereas more research employing larger samples is required in order to establish the apparent psychometric properties of the complementary radiographic and laboratory-testing process, which is only relevant to about 25% of the subjects analysed here.
Exercise and functional foods
Authors: Aoi Wataru , Naito Yuji , Yoshikawa Toshikazu 
Published: June 2006

Abstract
Appropriate nutrition is an essential prerequisite for effective improvement of athletic performance, conditioning, recovery from fatigue after exercise, and avoidance of injury. Nutritional supplements containing carbohydrates, proteins, vitamins, and minerals have been widely used in various sporting fields to provide a boost to the recommended daily allowance. In addition, several natural food components have been found to show physiological effects, and some of them are considered to be useful for promoting exercise performance or for prevention of injury. However, these foods should only be used when there is clear scientific evidence and with understanding of the physiological changes caused by exercise. This article describes various "functional foods" that have been reported to be effective for improving exercise performance or health promotion, along with the relevant physiological changes that occur during exercise.
Financing and cost-effectiveness analysis of public-private partnerships: provision of tuberculosis treatment in South Africa
Authors: Sinanovic Edina , Kumaranayake Lilani 
Published: June 2006

Abstract

Background
Public-private partnerships (PPP) could be effective in scaling up services. We estimated cost and cost-effectiveness of different PPP arrangements in the provision of tuberculosis (TB) treatment, and the financing required for the different models from the perspective of the provincial TB programme, provider, and the patient.

Methods
Two different models of TB provider partnerships are evaluated, relative to sole public provision: public-private workplace (PWP) and public-private non-government (PNP). Cost and effectiveness data were collected at six sites providing directly observed treatment (DOT). Effectiveness for a 12-month cohort of new sputum positive patients was measured using cure and treatment success rates. Provider and patient costs were estimated, and analysed according to sources of financing. Cost-effectiveness is estimated from the perspective of the provider, patient and society in terms of the cost per TB case cured and cost per case successfully treated.

Results
Cost per case cured was significantly lower in PNP (US $354–446), and comparable between PWP (US $788–979) and public sites (US $700–1000). PPP models could significantly reduce costs to the patient by 64–100%. Relative to pure public sector provision and financing, expansion of PPPs could reduce government financing required per TB patient treated from $609–690 to $130–139 in PNP and $36–46 in PWP.

Conclusion
There is a strong economic case for expanding PPP in TB treatment and potentially for other types of health services. Where PPPs are tailored to target groups and supported by the public sector, scaling up of effective services could occur at much lower cost than solely relying on public sector models.
Quantitative profiling of housekeeping and Epstein-Barr virus gene transcription in Burkitt lymphoma cell lines using an oligonucleotide microarray
Authors: Bernasconi Michele , Berger Christoph , Sigrist Jürg A , Bonanomi Athos , Sobek Jens , Niggli Felix K , Nadal David 
Published: June 2006

AbstractBackgroundThe Epstein-Barr virus (EBV) is associated with lymphoid malignancies, including Burkitt's lymphoma (BL), and can transform human B cells in vitro. EBV-harboring cell lines are widely used to investigate lymphocyte transformation and oncogenesis. Qualitative EBV gene expression has been extensively described, but knowledge of quantitative transcription is lacking. We hypothesized that transcription levels ofEBNA1, the gene essential for EBV persistence within an infected cell, are similar in BL cell lines.ResultsTo compare quantitative gene transcription in the BL cell lines Namalwa, Raji, Akata, Jijoye, and P3HR1, we developed an oligonucleotide microarray chip, including 17 housekeeping genes, six latent EBV genes (EBNA1,EBNA2,EBNA3A,EBNA3C,LMP1,LMP2), and four lytic EBV genes (BZLF1,BXLF2,BKRF2,BZLF2), and used the cell line B95.8 as a reference for EBV gene transcription. Quantitative polymerase chain reaction assays were used to validate microarray results. We found that transcription levels of housekeeping genes differed considerably among BL cell lines. Using a selection of housekeeping genes with similar quantitative transcription in the tested cell lines to normalize EBV gene transcription data, we showed that transcription levels ofEBNA1were quite similar in very different BL cell lines, in contrast to transcription levels of other EBV genes. As demonstrated with Akata cells, the chip allowed us to accurately measure EBV gene transcription changes triggered by treatment interventions.ConclusionOur results suggest uniformEBNA1transcription levels in BL and that microarray profiling can reveal novel insights on quantitative EBV gene transcription and its impact on lymphocyte biology.
Multisubstituted Olefins: Platform Synthesis and Applications to Materials Science and Pharmaceutical Chemistry
Authors: Itami Kenichiro , Yoshida Jun-ichi 
Published: June 2006

Abstract
The concept of platform synthesis has been successfully demonstrated as a useful strategy for making multisubstituted olefins in a programmable and diversity-oriented format. As well as applications to the synthesis of pharmaceutically important molecules such as tamoxifen and CDP840, applications to materials science, which have led to the discovery of interesting fluorescent materials and properties, are also described.
Dipole Moment and Conformation of CnH2n+1O(CH2CH2O)mH Investigated by the Measurements of Permittivity and FT-IR Spectra in Heptane Solutions and by Ab Initio Calculations
Authors: El-Hefnawy Mohamed , Sameshima Kaori , Matsushita Toshio , Tanaka Reiji 
Published: June 2006

Abstract
The apparent dipole moments (μ) of 2-methoxyethanol (C1E1), 2-ethoxyethanol (C2E1), 2-(2-methoxyethoxy)ethanol (C1E2), and 2-(2-ethoxyethoxy)ethanol (C2E2) were determined in heptane solutions for the mole fraction range of 0 &lt; x &lt; 0.03 at T = 298.15 K. To calculate μ values the molar volumes for these solutions and the refractive indices of the pure components were determined at T = 298.15 K. FT-IR spectra for these solutions were also measured at T = 298 K. The conformations of these compounds and that of the dimer of C1E1 were predicted by ab initio calculations. In order to compare the calculated results with experimental, a statistical calculation was performed. The calculated conformers of the isolated molecules correlated well with the experimental results of the dipole moment and the IR spectra.