bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identification of a Novel β-Cell Glucokinase (GCK) Promoter Mutation (−71G&gt;C) That ModulatesGCKGene Expression Through Loss of Allele-Specific Sp1 Binding Causing Mild Fasting Hyperglycemia in Humans
Authors: Gašperíková Daniela , Tribble Nicolas D. , Staník Juraj , Hučková Miroslava , Mišovicová Nadežda , van de Bunt Martijn , Valentínová Lucia , Barrow Beryl A. , Barák L'ubomir , Dobránsky Radoslav , Bereczková Eva , Michálek Jozef , Wicks Kate , Colclough Kevin , Knight Julian C. , Ellard Sian , Klimeš Iwar , Gloyn Anna L. 
Published: May 2009

OBJECTIVEInactivating mutations in glucokinase (GCK) cause mild fasting hyperglycemia. Identification of a GCK mutation has implications for treatment and prognosis; therefore, it is important to identify these individuals. A significant number of patients have a phenotype suggesting a defect in glucokinase but no abnormality of GCK. We hypothesized that the GCK β-cell promoter region, which currently is not routinely screened, could contain pathogenic mutations; therefore, we sequenced this region in 60 such probands.RESEARCH DESIGN AND METHODSThe β-cell GCK promoter was sequenced in patient DNA. The effect of the identified novel mutation on GCK promoter activity was assessed using a luciferase reporter gene expression system. Electrophoretic mobility shift assays (EMSAs) were used to determine the impact of the mutation on Sp1 binding.RESULTSA novel −71G&gt;C mutation was identified in a nonconserved region of the human promoter sequence in six apparently unrelated probands. Family testing established cosegregation with fasting hyperglycemia (≥5.5 mmol/l) in 39 affected individuals. Haplotype analysis in the U.K. family and four of the Slovakian families demonstrated that the mutation had arisen independently. The mutation maps to a potential transcriptional activator binding site for Sp1. Reporter assays demonstrated that the mutation reduces promoter activity by up to fourfold. EMSAs demonstrated a dramatic reduction in Sp1 binding to the promoter sequence corresponding to the mutant allele.CONCLUSIONSA novel β-cell GCK promoter mutation was identified that significantly reduces gene expression in vitro through loss of regulation by Sp1. To ensure correct diagnosis of potential GCK-MODY (maturity-onset diabetes of the young) cases, analysis of the β-cell GCK promoter should be included.
A Comparison of Human Raters and an Intra-oral Spectrophotometer
Authors: Browning W. D. , Chan D. C. , Blalock J. S. , Brackett M. G. 
Published: May 2009

Clinical RelevanceUsing the Vita 3D-Master shade guide, the accuracy of three experienced clinicians was compared to shade choices using an intraoral spectrophotometer. Compared to the clinicians, the shades chosen by the Easyshade guide were more frequently an exact match. This study indicates shade matching may be improved by using an electronic device.
Dental Erosion
Authors: Lussi A. , Hellwig E. , Ganss C. , Jaeggi T. 
Published: May 2009

SUMMARY
There is some evidence that dental erosion is steadily spreading. To diagnose erosion, dental professionals have to rely on clinical appearance, as there is no device available to detect it. Adequate preventive measures can only be initiated if the different risk factors and potential interactions between them are known. When substance loss, caused by erosive tooth wear, reaches a certain degree, oral rehabilitation becomes necessary. Prior to the most recent decade, the severely eroded dentition could only be rehabilitated by the provision of extensive crown and bridgework or removable dentures. As a result of the improvements in composite restorative materials and in adhesive techniques, it has become possible to rehabilitate eroded dentitions in a less invasive manner.
Erythrocyte Sedimentation Rate, C-Reactive Protein, or Rheumatoid Factor Are Normal at Presentation in 35%–45% of Patients with Rheumatoid Arthritis Seen Between 1980 and 2004: Analyses from Finland and the United States
Authors: SOKKA TUULIKKI , PINCUS THEODORE 
Published: May 2009

Objective.To analyze erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), and rheumatoid factor (RF) tests in 2 databases of consecutive patients with rheumatoid arthritis (RA) over 25 years between 1980 and 2004, in Finland and the USA.Methods.Databases of 1892 patients of 7 rheumatologists in Jyväskylä, Finland, and 478 of one author in Nashville, TN, USA, seen in usual care, were reviewed for the first recorded ESR and CRP, and all RF tests.Results.Median ESR at presentation was 30 mm/h at both sites. Mean ESR was 36 mm/h in Jyväskylä and 35 mm/h in Nashville. ESR was < 28 mm/h in 45% and 47% of patients at the 2 sites, respectively. CRP was normal in 44% and 58%, and all RF tests were negative in 38% and 37%, respectively. Both ESR and CRP were normal in 33% and 42% of patients, and all 3 tests were normal in 15% and 14% of patients in whom they were assessed. All 3 tests were abnormal in only 28% in Jyväskylä and 23% in Nashville.Conclusion.A majority of patients with RA seen between 1980 and 2004 had abnormal ESR, CRP, or RF. However, more than 37% of patients had ESR < 28 mm/h, normal CRP, or all negative RF tests. Similarities of laboratory test data at 2 sites on different continents with different duration of disease suggest generalizability of the findings. Normal ESR, CRP, and RF are seen in a substantial proportion of patients with RA at this time.
Immunogenetic Risks of Anti-Cyclical Citrullinated Peptide Antibodies in a North American Native Population with Rheumatoid Arthritis and Their First-degree Relatives
Authors: El-GABALAWY HANI S. , ROBINSON DAVID B. , HART DONNA , ELIAS BRENDA , MARKLAND JANET , PESCHKEN CHRISTINE A. , SMOLIK IRENE , MONTES-ALDANA GABRIELA , SCHROEDER MARLIS , FRITZLER MARVIN J. , CHEANG MARY , OEN KIEM 
Published: May 2009

Objective.To determine the prevalence of anti-cyclic citrullinated peptide (anti-CCP) antibodies in unaffected relatives of North American Native probands with rheumatoid arthritis (RA); and the associations of the shared epitope (SE) and HLA-DRB1*0901 with RA and anti-CCP antibodies.Methods.The subjects were RA probands, affected relatives, unaffected first-degree (FDR) and more distant relatives, and unaffected controls from the same population. HLA-DRB1 typing was determined by DNA sequencing and anti-CCP antibodies were determined by ELISA.Results.DRB1*0901, SE, and SE/DRB1*0901 genotypes were all associated with RA. SE/DRB1*0901, but not other SE genotypes, was associated with disease onset at age < 16 years. The frequency of anti-CCP antibodies was 82% in RA probands, 17% in FDR, 11% in more distant relatives, and 3% in controls. Among unaffected relatives, a significant increased risk of anti-CCP was associated with SE/DRB1*0901 genotype, but not with SE.Conclusion.An independent association of the non-SE allele DRB1*0901 with RA was confirmed in this population, and this allele in combination with a SE allele was associated with younger age at disease onset. FDR of RA probands have a higher prevalence of anti-CCP antibodies than more distant relatives and unrelated controls, suggesting a gradient of risk for disease development. Immunogenetic risks may act early in disease pathogenesis at the level of initiation of RA autoantibody formation; however, it is not clear what additional genetic and environmental risks are involved in progression to clinical disease.
Differences in Longitudinal Disease and Treatment Characteristics of Patients with Rheumatoid Arthritis Replying and Not Replying to a Postal Questionnaire. Experience from a Biologics Register in Southern Sweden
Authors: SÖDERLIN MARIA K. , JACOBSSON LENNART T.H. , PETERSSON INGEMAR F. , ENGLUND MARTIN , SAXNE TORE , GEBOREK PIERRE 
Published: May 2009

Objective.Studies on patients not answering postal questionnaires are scarce. We assessed the demographics and longitudinal disease and treatment characteristics of patients with rheumatoid arthritis (RA) in a Swedish biologics register who replied and who did not reply to a postal questionnaire.Methods.In the South Swedish Arthritis Treatment Group register, we have detailed disease severity characteristics at baseline and at followup for rheumatology patients taking biologic drugs. In 2005 a questionnaire on smoking, comorbidities, education, and ethnicity was sent to 1234 RA patients who had started their first biologic drug.Results.In total, 989 subjects (80%) answered the questionnaire. The 245 (20%) who did not answer generally had more severe RA [higher Disease Activity Score, worse Health Assessment Questionnaire score, higher visual analog scale scores for general health and pain at baseline and at followup, and stopped the drug treatment more frequently (72% vs 53%; p = 0.0001)]. There were no statistically significant differences in gender and disease duration between those who replied and those who did not reply, but in general the patients who did not reply were younger.Conclusion.Patients with RA in a Swedish biologics register not replying to a postal questionnaire had more severe RA and stopped biological drug treatment more frequently. Thus a detailed analysis of prospectively collected data can clarify selection bias introduced by subjects who do not answer a postal questionnaire, which may influence the validity and interpretation of results from postal survey studies.
The Value of HLA-DRB1 Shared Epitope, −308 Tumor Necrosis Factor-α Gene Promoter Polymorphism, Rheumatoid Factor, Anti-Citrullinated Peptide Antibodies, and Early Erosions for Predicting Radiological Outcome in Recent-Onset Rheumatoid Arthritis
Authors: RENESES SONSOLES , GONZÁLEZ-ESCRIBANO MARÍA F. , FERNÁNDEZ-SUÁREZ ANTONIO , PESTANA LUIS , DAVILA BERNABÉ , WICHMANN INGEBORG , GARCÍA ALICIA 
Published: May 2009

Objective.To study the value of HLA-DRB1 shared epitope (SE), −308 tumor necrosis factor-α (TNF-α) gene promoter polymorphism, rheumatoid factor (RF), anti-citrullinated peptide antibodies (anti-CCP), and baseline erosions for predicting radiological outcome at 1 year in patients with recent-onset rheumatoid arthritis (RA).Methods.Radiological damage was assessed by radiographs at baseline and at 1 year in an inception cohort of 134 RA patients with disease duration ≤ 1 year at study entry. Radiographs were scored with the modified Sharp/van der Heijde (SvdH) erosion score for hands, wrists, and feet. The predictive value of the variables was studied by multiple linear regression analysis, using immunogenetic factors, baseline SvdH erosion score, and type of treatment during the followup period as independent variables, and SvdH erosion score at 1 year as the dependent variable.Results.The SvdH erosion score increased from the baseline visit to the 1-year visit in 49 patients (36.6%). In multiple linear regression analysis, radiological outcome was significantly predicted by SE homozygosity (ß coefficient 1.75; 95% CI 1.54, 2.96; p = 0.005) and baseline SvdH erosion score (ß coefficient 1.56; 95% CI 1.4, 1.71; p < 0.001). This model explained 78% of the variability of the dependent variable (R2 = 0.779).Conclusion.Erosive damage at 1 year in patients with recent-onset RA is significantly influenced by SE homozygosity and the presence of baseline erosions, but not by RF status, anti-CCP status, or −308 TNF-α genotype.
Occupational Kneeling and Meniscal Tears: A Magnetic Resonance Imaging Study in Floor Layers
Authors: RYTTER SØREN , JENSEN LILLI KIRKESKOV , BONDE JENS PETER , JURIK ANNE GRETHE , EGUND NIELS 
Published: May 2009

Objective.To evaluate the association between occupational kneeling and degenerative meniscal tears.Methods.Magnetic resonance imaging (MRI) of both knees was conducted in 92 male floor layers and 49 male graphic designers (referents), with a mean age of 55.6 years (range 42–70 yrs). The presence of grade 3 MRI signal intensities indicating degenerative tears of the anterior, middle, and posterior one-third of the lateral and medial menisci was assessed on 1.5-Tesla MRI scans. The odds ratio (OR) of meniscal tears was determined among floor layers compared to graphic designers. Using logistic regression, models were adjusted for age, body mass index, and knee-straining sports.Results.Degenerative tears were significantly more prevalent in the medial meniscus among floor layers than among graphic designers [OR 2.28, 95% confidence interval (CI) 1.10–4.98] and significantly more floor layers had medial tears in both knees (OR 3.46, 95% CI 1.41–8.48). Tears extending to the tibial aspect and localized in the middle and posterior one-third of the medial meniscus were most prevalent. Lateral meniscal tears were predominantly unilateral and the prevalence of lateral tears did not differ between the 2 study groups. Knee complaints occurred in about 50% of all floor layers, irrespective of the presence of meniscal tears.Conclusion.Occupational kneeling increases the risk of degenerative tears in the medial but not the lateral menisci in both knees.
Monitor displays in radiology: Part 2
Authors: Indrajit IK , Verma BS 
Published: May 2009

AbstractMonitor displays play an important role in modern radiology practice. Practicing radiologists need to be familiar with the various performance parameters of medical-grade displays. A certain amount of technical knowledge is useful when making purchasing decisions since the right choice of equipment can have a great impact on the accuracy, efficiency, and speed in the radiology department.
Eagle syndrome
Authors: Raina Deepika , Gothi Rajesh , Rajan Sriram 
Published: May 2009

AbstractEagle syndrome occurs due to elongation of the styloid process or calcification of the stylohyoid ligament, which then may produce a pain sensation due the pressure exerted on various structures in the head and neck. When suspected, imaging helps in identifying the abnormally elongated styloid process or the calcified ligament. In recent years, three-dimensional CT (3DCT) has proved to be valuable in these cases. We report the case of a 62-year-old man with this syndrome in whom imaging with 3DCT conclusively established the diagnosis.
Pachydermoperiostosis or primary hypertrophic osteoarthropathy: A rare clinicoradiologic case
Authors: Rastogi Rajul , Suma GN , Prakash Ravi , Rastogi Umesh Chandra , Bhargava Sumeet , Rastogi Vaibhav 
Published: May 2009

AbstractPachydermoperiostosis (PDP) or primary hypertrophic osteoarthropathy is a rare syndrome with diverse radiological and clinical features. Though the diagnosis can be made on the basis of the classic clinical and radiological features, it is often missed due to variable presentations. A case of PDP that presented with dental complaints and had almost all the clinical and radiological features described in literature is reported. We also discuss the differential diagnosis.
DISH of the cervical spine causing epiglottis impingement
Authors: Bartalena Tommaso , Buia Francesco , Borgonovi Alberto , Rinaldi Maria Francesca , Modolon Cecilia , Bassi Francesco 
Published: May 2009

AbstractDiffuse idiopathic skeletal hyperostosis (DISH) is a condition characterized by calcification and ossification of ligaments and entheses; it mainly affects the vertebral column. We report the case of a patient with pharyngeal dysphagia and episodic aspiration secondary to DISH involvement of the cervical spine, which had caused alteration in the epiglottic tilt mechanism during deglutition.
Psammomatoid and trabecular variants of juvenile ossifying fibroma-two case reports
Authors: Thankappan Simi , Nair Sherin , Thomas Valsa , Sharafudeen KP 
Published: May 2009

AbstractJuvenile ossifying fibroma (JOF) is an uncommon fibro-osseous lesion occurring in the facial bones. It is highly aggressive and has a strong tendency to recur. It has been recognized as a separate histopathological entity among the fibro-osseous group of lesions. Surgical resection is the preferred line of treatment. Here we report two cases of JOF who reported to the oral medicine and radiology department; the two cases had different clinical features, history, radiological appearance, and aggressiveness. Under the recent classification system, both cases were recognized as histopathological variants of JOF: one psammomatoid and the other trabecular.
Lupus mastitis - peculiar radiological and pathological features
Authors: Wani Abdul Majid , Mohd Hussain Waleed Mohd , Fatani Mohamed I , Shakour Bothaina Abdul 
Published: May 2009

AbstractLupus mastitis is a form of lupus profundus that is seen in patients with systemic lupus erythematosus. It usually presents as a swelling (or swellings) in the breasts, with or without pain. The condition is recurrent and progresses along with the underlying disease, with fat necrosis, calcification, fibrosis, scarring, and breast atrophy. Lupus mastitis is often confused with malignancy and lymphoma and, in our part of the world, with tuberculosis. Confusion is especially likely when it occurs in an unusual clinical setting. In this article, we present a case that presented with unique radiological, pathological, and clinical features. Awareness of the various manifestations of lupus mastitis is essential if unnecessary interventions such as biopsies and surgeries, and their consequences, are to be avoided.
Images - Extra (too many) carpal bones in Larsen′s syndrome
Authors: Rahalkar Mukund D , Rahalkar Anand M , Patwardhan Sandeep A 
Published: May 2009

AbstractMultiple carpal bones may be seen in different syndromes, especially Larsen′s syndrome. A case of Larsen′s syndrome with many typical features and "too many" carpal bones, is described.
Unilateral cerebellar hypoplasia
Authors: Vagh JD , Gadekar Ajit , Agrawal Amit , Deshmukh Kirti 
Published: May 2009

AbstractUnilateral cerebellar hypoplasia is a relatively rare malformation. We report the case of a 7-year-old boy who presented with a history of a fall, which was followed by cerebellar signs. Imaging findings suggested a diagnosis of unilateral cerebellar hypoplasia. The child recovered with conservative management, probably because the cerebellar signs were due to the trauma and not the hypoplasia itself.
Deferiprone-induced arthropathy in thalassemia: MRI findings in a case
Authors: Chand Gyan , Chowdhury Veena , Manchanda A , Singh Sapna 
Published: May 2009

AbstractArthropathy is a well known side effect of the iron chelator deferiprone (L1); however, the imaging findings in deferiprone-induced arthropathy are not well known. In this article, we describe the typical radiographic and MRI findings in a patient receiving regular blood transfusions who developed arthropathy after long-term therapy with the oral iron chelator deferiprone (L1). Deferiprone primarily affects the articular cartilage and the changes include synovial thickening, articular cartilage thickening, and subchondral bone erosions.
Long-segment intramedullary spinal dermoid
Authors: Sharma NC , Chandra Tushar , Sharma Anshu , Bajaj Manish , Kundu Ravinder 
Published: May 2009

AbstractA 30-year-old man presented with a fairly large intramedullary mass lesion involving virtually the entire spinal cord. It was hyperintense on both T1W and T2W sequences, with signal suppression on fat-saturation images. Subsequent noncontrast CT scan of the spine confirmed the presence of fat and calcification within the lesion, thus leading to the diagnosis of an intramedullary dermoid.
Studies on structural and functional properties of sericin recovered from silk degumming liquor by membrane technology
Authors: Gulrajani M. L. , Purwar Roli , Prasad Raj Kamal , Joshi M. 
Published: May 2009

AbstractThis article describes the recovery of silk sericin from three different degumming liquors, that is, high temperature high pressure (HTHP), alkaline, and soap plus alkali (SPA), using membrane filtration technology. The recovery of sericin by membrane technology results in the reduction of about 78–85% chemical oxygen demand as well as biological oxygen demand values in the final discharge liquor. The sericin powders produced from the purified degumming liquors have been characterized in terms of color, nitrogen content, protein content, ash content, and thermogravimetric analysis and compared. It has been found that the sericin recovered from HTHP degumming liquor has about 98% protein content as compared to that recovered from alkaline (92%) and SPA (67%) degumming liquors. The molecular weight distribution and secondary structure of the recovered sericin powders have been determined by sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS‐PAGE) and circular dichroism (CD) spectroscopy, respectively. The molecular weight range of sericin recovered from HTHP, alkaline, and SPA degumming liquor was 20–>205 kDa, 20–97 kDa, and 20–43 kDa, respectively. The secondary structure of sericin recovered from HTHP degumming showed random coil conformation with some β sheet structure. The sericin recovered from alkaline and SPA degumming liquors showed denaturation with some random coil, β sheet, and α helix conformation. The functional properties of the three different recovered sericin powder samples in terms of moisture content and ultra protection factor (UPF) have also been evaluated and compared. © 2009 Wiley Periodicals, Inc. J Appl Polym Sci, 2009
Preparation and kinetic analysis of PS‐b‐PBA block copolymer by 4‐oxo‐TEMPO capped polystyrene macroinitiators
Authors: Kuo Kuo‐Huai , Chiu Wen‐Yen , Cheng Kuo‐Chung 
Published: May 2009

AbstractPolystyrene‐block‐poly(n‐butyl acrylate) block copolymers were prepared from 4‐oxo‐2,2,6,6‐tetramethylpiperidinooxy (4‐oxo‐TEMPO) capped polystyrene macroinitiators at a high temperature, 165°C. It was found that the number‐average molecular weight of PBA chains in block copolymers could reach above 10,000 rapidly at early stage of polymerization with a narrow polydispersity index of 1.2–1.4, but after that, the polymerization seemed to be retarded. Furthermore, according to the kinetic analysis, the concentration of 4‐oxo‐TEMPO was increased mainly by the hydrogen transfer reaction of hydroxylamine (4‐oxo‐TEMPOH) to growing radicals during polymerization. This increase in 4‐oxo‐TEMPO concentration could retard the growth of polymer chains. The rate constant of the hydrogen transfer reaction of 4‐oxo‐TEMPOH to growing radicals, kH, estimated by the kinetic model is about 9.33 × 104M‐1s−1 at 165°C. © 2009 Wiley Periodicals, Inc. J Appl Polym Sci, 2009
Relations between high‐temperature mastication and Mooney viscosity relaxation in natural rubber
Authors: Ehabe E. E. , Nkeng G. E. , Collet A. , Bonfils F. 
Published: May 2009

AbstractMastication of natural rubber (NR) is undertaken as a preliminary step towards the preparation of NR‐based vulcanizates, a process during which the elastomer is broken down to a homogeneous matrix of lower viscosity. Several tests and indicators are in use for characterizing the behavior of elastomers but these have mostly been adopted for the nonmasticated product. This study uses coefficients generated from modeled Mooney relaxation data, as indicators of elasticity, to examine the effect of high‐temperature mastication on the processability of the masticated rubber. Some derived coefficients such as the terminal relaxation time (τ) from Maxwell's triexponential model, the elastic component (a) from Wu‐Abbott model [Y = 1 + a* ln(t) − bt/(c + t)], and the constant (b) from the Power law model (Y = at−b), adequately characterized the effect of mastication on NR. Although the NR grades studied were quite different with respect to their initial molar mass distributions, they followed a similar response to the mechanical models before and after mastication, indicating therefore that mastication decomposes to a similar extent, the various components (long isoprene chains, densely crosslinked solvent‐insoluble gel, etc.) that account for the viscoelastic behavior of the raw elastomer. © 2009 Wiley Periodicals, Inc. J Appl Polym Sci, 2009