bluuebunny/crossref_metadata_2025_split huggingface dataset:
Chromosome aberrations detected by conventional karyotyping using novel mitogens in chronic lymphocytic leukemia with “normal” FISH: correlations with clinicobiologic parameters
Authors: Rigolin Gian Matteo , Cibien Francesca , Martinelli Sara , Formigaro Luca , Rizzotto Lara , Tammiso Elisa , Saccenti Elena , Bardi Antonella , Cavazzini Francesco , Ciccone Maria , Nichele Ilaria , Pizzolo Giovanni , Zaja Francesco , Fanin Renato , Galieni Piero , Dalsass Alessia , Mestichelli Francesca , Testa Nicoletta , Negrini Massimo , Cuneo Antonio 
Published: January 2012

Abstract
It is unclear whether karyotype aberrations that occur in regions uncovered by the standard fluorescence in situ hybridization (FISH) panel have prognostic relevance in chronic lymphocytic leukemia (CLL). We evaluated the significance of karyotypic aberrations in a learning cohort (LC; n = 64) and a validation cohort (VC; n = 84) of patients with chronic lymphocytic leukemia with “normal” FISH. An abnormal karyotype was found in 21.5% and 35.7% of cases in the LC and VC, respectively, and was associated with a lower immunophenotypic score (P = .030 in the LC, P = .035 in the VC), advanced stage (P = .040 in the VC), and need for treatment (P = .002 in the LC, P = < .0001 in the VC). The abnormal karyotype correlated with shorter time to first treatment and shorter survival in both the LC and the VC, representing the strongest prognostic parameter. In patients with chronic lymphocytic leukemia with normal FISH, karyotypic aberrations by conventional cytogenetics with novel mitogens identify a subset of cases with adverse prognostic features.
Molecular evolution of Drosophila Sex-lethal and related sex determining genes
Authors: Mullon Charles , Pomiankowski Andrew , Reuter Max 
Published: January 2012

Abstract

Background
Sex determining mechanisms are evolutionarily labile and related species often use different primary signals and gene regulatory networks. This is well illustrated by the sex determining cascade of Drosophila fruitflies, which have recruited Sex-lethal as the master switch and cellular memory of sexual identity, a role performed in other insects by the gene transformer. Here we investigate the evolutionary change in the coding sequences of sex determining genes associated with the recruitment of Sex-lethal. We analyze sequences of Sex-lethal itself, its Drosophila paralogue sister-or-Sex-lethal and downstream targets transformer and doublesex.

Results
We find that the recruitment of sister-or-Sex-lethal was associated with a number of adaptive amino acid substitutions, followed by a tightening of purifying selection within the Drosophila clade. Sequences of the paralogue sister-or-Sex-lethal, in contrast, show a signature of rampant positive selection and relaxation of purifying selection. The recruitment of Sex-lethal as top regulator and memory gene is associated with a significant release from purifying selection in transformer throughout the Drosophila clade. In addition, doublesex shows a signature of positive selection and relaxation of purifying selection in the Drosophila clade. A similar pattern is seen in sequences from the sister Tephritidae clade.

Conclusions
The pattern of molecular evolution we observe for Sex-lethal and its paralogue sister-or-Sex-lethal is not characteristic of a duplication followed by neo-functionalization. Rather, evidence suggests a sub-functionalization scenario achieved through the evolution of sophisticated splicing. As expected, we find that transformer evolves under relaxed purifying selection after the recruitment of Sex-lethal in Drosophila. Finally, the observation of doublesex adaptation in both Drosophila and Tephritidae suggests that these changes are due to ongoing adaptation of downstream sex-specific regulation, rather than being associated the recruitment of Sex-lethal and the resulting change in the topology of the sex determining cascade.
Placental malaria is associated with attenuated CD4 T-cell responses to tuberculin PPD 12 months after BCG vaccination
Authors: Walther Brigitte , Miles David JC , Waight Pauline , Palmero Melba S , Ojuola Olubukola , Touray Ebrima S , Whittle Hilton , van der Sande Marianne , Crozier Sarah , Flanagan Katie L 
Published: January 2012

AbstractBackgroundPlacental malaria (PM) is associated with prenatal malaise, but many PM+ infants are born without symptoms. As malaria has powerful immunomodulatory effects, we tested the hypothesis that PM predicts reduced T-cell responses to vaccine challenge.MethodsWe recruited healthy PM+ and PM- infants at birth. At six and 12 months, we stimulated PBMCs with tuberculin purified protein derivative (PPD) and compared expression of CD154, IL-2 and IFNγ by CD4 T-cells to a negative control using flow cytometry.We measured the length, weight and head circumference at birth and 12 months.ResultsIL-2 and CD154 expression were low in both groups at both timepoints, without discernable differences. Expression of IFNγ was similarly low at 6 months but by 12 months, the median response was higher in PM- than PM + infants (p= 0.026). The PM+ infants also had a lower weight (p= 0.032) and head circumference (p= 0.041) at 12 months, indicating lower growth rates.At birth, the size and weight of the PM+ and PM- infants were equivalent. By 12 months, the PM+ infants had a lower weight and head circumference than the PM- infants.ConclusionsPlacental malaria was associated with reduced immune responses 12 months after immune challenge in infants apparently healthy at birth.
Validation of a Greek version of the oral health impact profile (OHIP-14) for use among adults
Authors: Papagiannopoulou Vassilia , Oulis Constantine J , Papaioannou William , Antonogeorgos George , Yfantopoulos John 
Published: January 2012

Abstract

Background
To test the validity of the short form of the Oral Health Impact Profile (OHIP-14) for use among adults in Greece.

Methods
The original English version of the OHIP-14 was translated using the forward-backward technique, pilot-tested, and then applied to 211 adults aged 35 years and above. The questionnaire was filled out during face-to-face interviews conducted by one dentist, while individuals were asked to undergo a clinical examination. The internal consistency of the questionnaire was evaluated using Cronbach's alpha (α) coefficient and inter-item and item-total correlations. Discriminant and convergent validities were assessed.

Results
Cronbach's α was estimated to be 0.90. Inter-item correlations coefficients ranged from 0.10 to 0.83, while item-total correlations coefficients from 0.44 to 0.76. Significant associations were found between OHIP-14 and the decayed, missing and filled teeth (DMFT) and oral hygiene, supporting the ability of the questionnaire to discriminate between individuals with and without impacts. The OHIP-14 total score was highly associated with self-perceived oral health status (rs = 0.57; p = 0.01), as well as with self-assessment of oral satisfaction (rs = 0.55;p = 0.01). Similar results were observed by investigating the relationship between the latter questions and each domain score as well as in various sub-groups analyses.

Conclusions
The OHIP-14 is a reliable and valid questionnaire for the assessment of OHRQoL among adults in Greece.
Carrageenan Induced Phosphorylation of Akt is Dependent on Neurokinin-1 Expressing Neurons in the Superficial Dorsal Horn
Authors: Choi Jeong IL , Koehrn Fred J , Sorkin Linda S 
Published: January 2012

Background: Paw carrageenan induces activation of phosphatidylinositol 3-kinase (PI-3K) and Akt in dorsal horn neurons in addition to induction of pain behavior. Spinal PI-3K activation is also thought to be required for inflammation-induced trafficking of GluA1, AMPA receptor subunits, into plasma membranes from cytosol. Phosphorylation of Akt has a unique time course. It occurs first in the superficial dorsal horn (0.75 h), then soon dissipates and is followed an hour later by Akt phosphorylation in deeper dorsal horn laminae, primarily lamina V. Initially, we wished to determine if Akt phosphorylation in the deeper laminae were dependent on the presence of lamina I, neurokinin receptor bearing projection neurons. As the study progressed, our aims grew to include the question, whether carrageenan-induced GluA1 subunit trafficking was downstream of Akt phosphorylation. Results: Rats pretreated with spinal saporin conjugated to a stabilized form of substance P had substantial loss of neurons with neurokinin 1 receptors throughout their superficial, but not deep dorsal horns. Animals pre-treated with substance P-saporin exhibited no change in locomotor ability and a small, but significant decrease in carrageenan-induced mechanical allodynia when compared to animals pre-treated with spinal saporin alone. Importantly, carrageenan-induced phosphorylation of Akt was blocked, in the substance P-saporin treated group, throughout the spinal cord grey matter. In marked contrast, carrageenan induced-trafficking of the GluA1 receptor subunit increased equivalently in both treatment groups. Conclusions: We infer from these data that 1) phosphorylation of Akt in the deep dorsal horn is dependent on prior activation of NK1 receptor bearing cells in superficial dorsal horn, and 2) there are parallel spinal intracellular cascades initiated by the carrageenan injection downstream of PI-3K activation, including one containing Akt and another involving GluA1 trafficking into neuronal plasma membranes that separately lead to enhanced pain behavior. These results imply that the two pathways downstream of PI-3K can be activated separately and therefore should be able to be inhibited independently.
Is Typing Speed Proportional to the Severity of Pain in Keyboard Workers with Work-related Upper Limb Disorder
Authors: Povlsen Bo 
Published: January 2012

Objectives To investigate if typing speed is proportional to the severity of pain in keyboard workers with work-related upper limb disorder (WRULD). Design Standardized functional typing test with participants scoring pain before and after typing; calculation of typing speed. Participants Fifty-nine patients and six controls. Setting Tertiary hospital centre for hand and upper limb pain. Main outcome measures Pain (VAS 0–10) and calculation of typing speed as words per minute. Results Three subgroups of patients were found based on their typing speed: fast, slow and intermediate. Two-tailed student T-test with P level at 0.05 was used for evaluation. The typing speeds were significantly different between all three patient groups ( P < 0.05). The typing speed was significantly faster in the fastest patient group than in the control group ( P = 0.04) and the slow and middle groups ( P = <0.0001). The pain before typing was highest in the ‘slow’ group, in both hands but this difference was not statistically significant. Conclusion Typing speed is not proportional to the severity of pain in keyboard workers with WRULD. Patients with statistically significant slower or faster typing speeds do not have statistically different levels of pain.
Alternative Diagnoses to Chronic Fatigue Syndrome in Referrals to a Specialist Service: Service Evaluation Survey
Authors: Devasahayam Anoop , Lawn Tara , Murphy Maurice , White Peter D 
Published: January 2012

Objective To assess the accuracy of diagnoses made by referrers to a chronic fatigue syndrome (CFS) service. Design Retrospective service evaluation surveys of both rejected referral letters and medical case-notes after full clinical assessment. Setting A specialist CFS clinic in London, UK. Participants In the first survey, we assessed rejected referral letters between March 2007 and September 2008. In the second survey, we ascertained the primary diagnosis made in case-notes of 250 consecutive new patients assessed between April 2007 and November 2008. Main outcome measures Reasons for rejection of referrals and primary diagnosis in those assessed. Results In the first survey, 154 out of 418 referrals (37%) were rejected. Of these, 77 out of the available 127 referrals (61%) had a likely alternative diagnosis. In the second survey of clinically assessed patients, 107 (43%) had alternative medical/psychiatric diagnoses, while 137 out of 250 (54%) patients received a diagnosis of CFS. The commonest alternative medical diagnoses of those assessed were sleep disorders and the commonest alternative psychiatric diagnosis was depressive illness. Altogether 184 of 377 (49%) patients had alternative diagnoses to CFS. Conclusions Half of all the referred patients to a specialist CFS clinic had alternative medical and psychiatric diagnoses. Specialist medical assessment for patients with unexplained, disabling, chronic fatigue needs to incorporate both medical and psychiatric assessments.
The Extroverted Firm: How External Information Practices Affect Innovation and Productivity
Authors: Tambe Prasanna , Hitt Lorin M. , Brynjolfsson Erik 
Published: January 2012

We gather detailed data on organizational practices and information technology (IT) use at 253 firms to examine the hypothesis that external focus—the ability of a firm to detect and therefore respond to changes in its external operating environment—increases returns to IT, especially when combined with decentralized decision making. First, using survey-based measures, we find that external focus is correlated with both organizational decentralization, and IT investment. Second, we find that a cluster of practices including external focus, decentralization, and IT is associated with improved product innovation capabilities. Third, we develop and test a three-way complementarities model that indicates that the combination of external focus, decentralization, and IT is associated with significantly higher productivity in our sample. We also introduce a new set of instrumental variables representing barriers to IT-related organizational change and find that our results are robust when we account for the potential endogeneity of organizational investments. Our results may help explain why firms that operate in information-rich environments such as high-technology clusters or areas with high worker mobility have experienced especially high returns to IT investment and suggest a set of practices that some managers may be able to use to increase their returns from IT investments. This paper was accepted by Sandra Slaughter, information systems.
Relicensing as a Secondary Market Strategy
Authors: Oraiopoulos Nektarios , Ferguson Mark E. , Toktay L. Beril 
Published: January 2012

Secondary markets in the information technology industry, where used or refurbished equipment is traded, have been growing steadily. For original equipment manufacturers (OEMs) in this industry, the importance of secondary markets has grown in parallel, not only as a source of revenue, but also because of their impact on these firms' competitive advantage and market strategy. Recent articles in the press have severely criticized some OEMs who are perceived to be actively trying to eliminate the secondary market for their products. Other OEMs have policies that enhance their secondary markets. The goal of this paper is to understand how an OEM's incentives and optimal strategies vis-à-vis the secondary market are shaped contingent on her relative competitive advantage, product characteristics, and consumer preferences. The critical trade-off that we examine is whether the indirect benefit from maintaining an active secondary market (the resale value effect) can outweigh the potentially negative effect of the sales of used products at the expense of new product sales (the cannibalization effect). To that end, we develop a durable good model where the OEM can directly affect the resale value of her product through a relicensing fee charged to the buyer of the refurbished equipment. We analyze the OEM's strategy in both the monopoly and the duopoly cases, characterize the optimal relicensing fee set by the OEM, and draw conclusions on the conditions that favor stimulating or deterring the secondary market. This paper was accepted by Candace A. Yano, operations and supply chain management.
Competition Between Organizational Groups: Its Impact on Altruistic and Antisocial Motivations
Authors: Goette Lorenz , Huffman David , Meier Stephan , Sutter Matthias 
Published: January 2012

Firms are often organized into groups. Group membership has been shown empirically to have positive effects, in the form of increased prosocial behavior toward in-group members. This includes an enhanced willingness to engage in altruistic punishment of inefficient defection. Our paper provides evidence of a dark side of group membership. In the presence of cues of competition between groups, a taste for harming the out-group emerges: punishment ceases to serve a norm enforcement function, and instead, out-group members are punished harder and regardless of whether they cooperate or defect. Our results point to a mechanism that might help explain previous mixed results on the social value of punishment, and they contribute to understanding the sources of conflict between groups. They also point to an important trade-off for firms: introducing competition enhances within-group efficiency but also generates costly between-group conflict.This paper was accepted by Teck Ho, decision analysis.
Prospect Theory, Liquidation, and the Disposition Effect
Authors: Henderson Vicky 
Published: January 2012

There is a well-known intuition linking prospect theory with the disposition effect, the tendency of investors to sell assets that have risen in value rather than fallen. Recently, several authors have studied rigorous models in an attempt to formalize the intuition. However, some have found it difficult to predict a disposition effect while others produce a more extreme prediction where investors never voluntarily sell at a loss. We solve a model of asset liquidation where investors realize utility over gains and losses, and utility is concave over gains and convex over losses. Under the preferences of Tversky and Kahneman (Tversky, A., D. Kahneman. 1992. Advances in prospect theory: Cumulative representation of uncertainty. J. Risk Uncertainty 5(4) 297–323) and lognormal asset prices, investors exhibit a disposition effect as gains are realized at a greater rate than losses. Nonetheless, in contrast to the extant literature, we find that the investor will “give up” and sell at a loss when the asset has a sufficiently low Sharpe ratio. This paper was accepted by Brad Barber, Teck Ho, and Terrance Odean, special issue editors.
A Baseline Audit of Referral and Treatment Delivered to Patients in the Intermediate Minor Oral Surgery Service in Croydon PCT
Authors: O'Neill Eunan , Gallagher Jennifer E , Kendall Nick 
Published: January 2012

Introduction Patients attending for primary dental care may require oral surgery procedures beyond the capability of a generalist and thus need to be treated by a dentist with greater expertise. In the United Kingdom, it is increasingly accepted that such care may be provided in primary care settings by specialists or dentists with a special interest. In response to local pressures, an intermediate minor oral surgery (IMOS) service has been established in Croydon, south west London, to provide oral surgery treatment for non-urgent patients on referral. Aim To audit the appropriateness and quality of oral surgery referrals after triage to an IMOS service in Croydon and to set standards for future audits on this topic. Methods An audit tool was developed in line with the local referral guidelines and agreed with local stakeholders. Information on 501 (10%) triaged referrals to IMOS practices over a 24-month period was obtained through the referral management centre. A 10% sample of referrals per month to each practice was calculated and IMOS providers randomly selected the relevant patient records. Using an agreed audit pro forma, information on the indications for referral, treatment provided, and dates relating to patient management, in addition to the age and sex of patients, was collected from the IMOS providers by one investigator. Descriptive analysis of the data was performed. Results Of the 501 patient records that were examined, 99% of patients were treated in IMOS practices, with only three (less than 1%) patients being referred on to hospital consultant services. The largest proportion (237; 40%) of referrals was for the extraction of teeth considered to have special difficulty, followed by lower third molars (154; 26%). Almost one-third (159; 32%) of patients were referred for more than one procedure. One in eight (72; 13%) teeth removed by the IMOS providers were recorded as a simple extraction without medical complications. Conclusions • In general, patients were referred appropriately to the primary care oral surgery service in Croydon, with only a minority recorded as receiving simple care that should not have required referral. • The clinician-led triage process using a referral management system worked well in selecting appropriate patients for treatment by IMOS providers in primary care and reduced referrals to hospital. • Suggested standards for future audits of IMOS referrals have been set.
Oral and Dental Manifestations in Rubinstein-Taybi Syndrome: Report of a Rare Case
Authors: Gunashekhar Madiraju , Hameed Mohammad Shahul , Bokhari Syed Kamran 
Published: January 2012

Rubinstein-Taybi syndrome, or broad thumb-hallux syndrome, is a well-defined rare congenital disorder characterised by postnatal growth deficiency, craniofacial dysmorphism, broad thumbs and great toes, and mental retardation (intellectual disability). Occurrence may be either sporadic or through autosomal dominant inheritance. Reports of Rubinstein-Taybi syndrome are scarce in the literature. This case report describes the oral and dentofacial findings of Rubinstein-Taybi syndrome affecting a 13-year-old Indian female, including the uncommon presence of talon cusps and an unerupted supernumerary tooth.
Novel compound heterozygous mutations in the SBP2 gene: characteristic clinical manifestations and the implications of GH and triiodothyronine in longitudinal bone growth and maturation
Authors: Hamajima Takashi , Mushimoto Yuichi , Kobayashi Hironori , Saito Yoshiro , Onigata Kazumichi 
Published: January 2012

ObjectiveMutations in the selenocysteine insertion sequence binding protein 2 gene (SECISBP2 also known as SBP2) lead to a multisystemic disorder. Our objectives are to examine the clinical manifestations of the present patient and evaluate the effects of GH and triiodothyronine (T3) for longitudinal bone growth and maturation.MethodsA Japanese boy presented with unusual thyroid function tests (normal or slightly elevated TSH, low-normal or slightly decreased free T3 (FT3), and elevated free thyroxine (FT4)), short stature without GH deficiency, and delayed bone maturation. The entire coding region of the patient's SBP2 was analyzed. GH treatment was initiated when the patient was 4 years old, and combination therapy with GH plus T3 was started when the patient was 10 years old. We monitored the patient's height and bone age until he was 11 years old.ResultsThe patient showed typical symptoms of SBP2 deficiency, and novel compound heterozygous mutations were identified in SBP2 (p.M515fsX563/p.Q79X). Six years of GH monotherapy improved the patient's height s.d. from −3.4 to −1.7 without accelerating bone maturation, whereas 6 months of T3 treatment combined with GH almost normalized the thyroid function tests and improved both longitudinal bone growth and maturation.ConclusionsIn the growth plate, GH may compensate for decreased local T3 effects on longitudinal bone growth; however, GH does not appear to compensate for the effects of T3 on bone maturation. We believe that the present case has important implications for understanding the mechanism of thyroid hormone and GH on longitudinal bone growth and maturation.