bluuebunny/crossref_metadata_2025_split huggingface dataset:
Atrial fibrillation following autologous stem cell transplantation in patients with multiple myeloma: incidence and risk factors
Authors: Sureddi Ravi K. , Amani Fariba , Hebbar Prabhat , Williams David K. , Leonardi Marino , Paydak Hakan , Mehta J.L. 
Published: October 2012

Objectives: Atrial fibrillation (AF) often develops in patients with multiple myeloma following autologous stem cell transplantation (ASCT), but the exact incidence of, and the risk factors for AF have not been described. In this study, we sought to determine the incidence of AF in patients with multiple myeloma undergoing ASCT. Methods: Patients who received ASCT for multiple myeloma between January 2000 and December 2009 were identified using the ICD-9 codes for multiple myeloma and ASCT, and formed the basis of this report. Results: The study included 278 patients (mean age, 63 ± 9.5 years). A total of 75 (27%) patients developed AF at a mean duration of 14.8 days following ASCT. On multiple regression analysis, baseline renal dysfunction (odds ratio 15.2 [confidence interval 5.08–45.6]), left ventricular systolic dysfunction (9.55 [2.78–32.79]), dilated left atrium on echocardiogram (4.97 [1.8–13.78]), and hypertension (3.6 [1.36–9.52]) were significantly associated with the development of AF after ASCT. The presence of light-chain secretion (0.21 [0.07–0.6]) was associated with a lower incidence of AF. Age, gender, and race were not significantly associated with the development of AF after ASCT. Conclusions: AF is very frequent in patients with multiple myeloma when they receive ASCT. The presence of abnormal renal function, left ventricular systolic dysfunction, dilated left atrium, or hypertension at baseline identifies patients at high risk of developing AF following ASCT.
Buprenorphine augmentation in the treatment of refractory obsessive–compulsive disorder
Authors: Liddell Malcolm B. , Aziz Victor , Briggs Patrick , Kanakkehewa Nimalee , Rawi Omar 
Published: October 2012

Background: OCD is often refractory to treatment. There is a need for the development of new, non-invasive treatments for severe OCD. Rationale: There is evidence that opiates can be a useful adjunctive treatment in OCD. We summarise our experience with sublingual buprenorphine augmentation of standard pharmacological management of severe OCD. Methods: Patients were recruited from a standard psychiatric outpatient clinic and gave their consent to the treatment trial. The severity of the OCD was rated with the Y-BOCS. The buprenorphine was introduced to their existing medication regime at a low dose and the dose increased according to response. In order to gauge the reproducibility of the response the buprenorphine was withdrawn and then reintroduced once symptoms had returned. Results: 4 out of 7 patients with treatment resistant OCD showed a 30% reduction in the Y-BOCS score following buprenorphine augmentation. 3 of the responders were comorbid for other Axis 1 diagnoses. All of the responders had shown some improvement with SSRIs or clomipramine. Non-responders had not shown any improvement with either antidepressant or antipsychotic drugs. Typically improvement appeared within 2 days of initiating buprenorphine and waned within 1 to 2 days of its discontinuation. The dose of buprenorphine required varied between 400 µg and 600 µg a day. One responder managed on alternate day dosing. Reintroduction of buprenorphine resulted in symptom control within 2 to 3 days. The buprenorphine treatment was not associated with significant side-effects and the improvement was maintained without progressive dose escalation. Conclusions: Buprenorphine augmentation of standard treatment for OCD can result in clinically meaningful improvement in a proportion of refractory OCD cases. Further treatment trials are indicated.
PRRC2A and BCL2L11 gene variants influence risk of non-Hodgkin lymphoma: results from the InterLymph consortium
Authors: Nieters Alexandra , Conde Lucia , Slager Susan L. , Brooks-Wilson Angela , Morton Lindsay , Skibola Danica R. , Novak Anne J. , Riby Jacques , Ansell Stephen M. , Halperin Eran , Shanafelt Tait D. , Agana Luz , Wang Alice H. , De Roos Anneclaire J. , Severson Richard K. , Cozen Wendy , Spinelli John , Butterbach Katja , Becker Nikolaus , de Sanjose Silvia , Benavente Yolanda , Cocco Pierluigi , Staines Anthony , Maynadié Marc , Foretova Lenka , Boffetta Paolo , Brennan Paul , Lan Qing , Zhang Yawei , Zheng Tongzhang , Purdue Mark , Armstrong Bruce , Kricker Anne , Vajdic Claire M. , Grulich Andrew , Smith Martyn T. , Bracci Paige M. , Chanock Stephen J. , Hartge Patricia , Cerhan James R. , Wang Sophia S. , Rothman Nathaniel , Skibola Christine F. 
Published: October 2012

AbstractMany common genetic variants have been associated with non-Hodgkin lymphoma (NHL), but individual study results are often conflicting. To confirm the role of putative risk alleles in B-cell NHL etiology, we performed a validation genotyping study of 67 candidate single nucleotide polymorphisms within InterLymph, a large international consortium of NHL case-control studies. A meta-analysis was performed on data from 5633 B-cell NHL cases and 7034 controls from 8 InterLymph studies. rs3789068 in the proapoptotic BCL2L11 gene was associated with an increased risk for B-cell NHL (odds ratio = 1.21, P random = 2.21 × 10−11), with similar risk estimates for common B-cell subtypes. PRRC2A rs3132453 in the HLA complex class III region conferred a reduced risk of B-cell NHL (odds ratio = 0.68, P random = 1.07 × 10−9) and was likewise evident for common B-cell subtypes. These results are consistent with the known biology of NHL and provide insights into shared pathogenic components, including apoptosis and immune regulation, for the major B-cell lymphoma subtypes.
Monoclonal gammopathy of renal significance: when MGUS is no longer undetermined or insignificant
Authors: Leung Nelson , Bridoux Frank , Hutchison Colin A. , Nasr Samih H. , Cockwell Paul , Fermand Jean-Paul , Dispenzieri Angela , Song Kevin W. , Kyle Robert A. 
Published: October 2012

AbstractMultiple myeloma is the most frequent monoclonal gammopathy to involve the kidney; however, a growing number of kidney diseases associated with other monoclonal gammopathies are being recognized. Although many histopathologic patterns exist, they are all distinguished by the monoclonal immunoglobulin (or component) deposits. The hematologic disorder in these patients is more consistent with monoclonal gammopathy of undetermined significance (MGUS) than with multiple myeloma. Unfortunately, due to the limitations of the current diagnostic schema, they are frequently diagnosed as MGUS. Because treatment is not recommended for MGUS, appropriate therapy is commonly withheld. In addition to end-stage renal disease, the persistence of the monoclonal gammopathy is associated with high rates of recurrence after kidney transplantation. Preservation and restoration of kidney function are possible with successful treatment targeting the responsible clone. Achievement of hematologic complete response has been shown to prevent recurrence after kidney transplantation. There is a need for a term that properly conveys the pathologic nature of these diseases. We think the term monoclonal gammopathy of renal significance is most helpful to indicate a causal relationship between the monoclonal gammopathy and the renal damage and because the significance of the monoclonal gammopathy is no longer undetermined.
Toward allotetraploid cotton genome assembly: integration of a high-density molecular genetic linkage map with DNA sequence information
Authors: Zhao Liang , Yuanda Lv , Caiping Cai , Xiangchao Tong , Xiangdong Chen , Wei Zhang , Hao Du , Xiuhua Guo , Wangzhen Guo 
Published: October 2012

Abstract

Background
Cotton is the world’s most important natural textile fiber and a significant oilseed crop. Decoding cotton genomes will provide the ultimate reference and resource for research and utilization of the species. Integration of high-density genetic maps with genomic sequence information will largely accelerate the process of whole-genome assembly in cotton.

Results
In this paper, we update a high-density interspecific genetic linkage map of allotetraploid cultivated cotton. An additional 1,167 marker loci have been added to our previously published map of 2,247 loci. Three new marker types, InDel (insertion-deletion) and SNP (single nucleotide polymorphism) developed from gene information, and REMAP (retrotransposon-microsatellite amplified polymorphism), were used to increase map density. The updated map consists of 3,414 loci in 26 linkage groups covering 3,667.62 cM with an average inter-locus distance of 1.08 cM. Furthermore, genome-wide sequence analysis was finished using 3,324 informative sequence-based markers and publicly-available Gossypium DNA sequence information. A total of 413,113 EST and 195 BAC sequences were physically anchored and clustered by 3,324 sequence-based markers. Of these, 14,243 ESTs and 188 BACs from different species of Gossypium were clustered and specifically anchored to the high-density genetic map. A total of 2,748 candidate unigenes from 2,111 ESTs clusters and 63 BACs were mined for functional annotation and classification. The 337 ESTs/genes related to fiber quality traits were integrated with 132 previously reported cotton fiber quality quantitative trait loci, which demonstrated the important roles in fiber quality of these genes. Higher-level sequence conservation between different cotton species and between the A- and D-subgenomes in tetraploid cotton was found, indicating a common evolutionary origin for orthologous and paralogous loci in Gossypium.

Conclusion
This study will serve as a valuable genomic resource for tetraploid cotton genome assembly, for cloning genes related to superior agronomic traits, and for further comparative genomic analyses in Gossypium.
Response of the goat mammary gland to infection with Staphylococcus aureus revealed by gene expression profiling in milk somatic and white blood cells
Authors: Cremonesi Paola , Capoferri Rossana , Pisoni Giuliano , Del Corvo Marcello , Strozzi Francesco , Rupp Rachel , Caillat Hugues , Modesto Paola , Moroni Paolo , Williams John L , Castiglioni Bianca , Stella Alessandra 
Published: October 2012

Abstract

Background

S. aureus is one of the main pathogens responsible for the intra-mammary infection in dairy ruminants. Although much work has been carried out to understand the complex physiological and cellular events that occur in the mammary gland in response to S. aureus, the protective mechanisms are still poorly understood. The objectives of the present study were to investigate gene expression during the early response of the goat mammary gland to an experimental challenge with S. aureus, in order to better understand the local and systemic response and to compare them in two divergent lines of goat selected for high and low milk somatic cell scores.

Results
No differences in gene expression were found between high and low SCS (Somatic Cells Score) selection lines. Analysing the two groups together, an expression of 300 genes were found to change from T0 before infection, and T4 at 24 hours and T5 at 30 hours following challenge. In blood derived white blood cells 8 genes showed increased expression between T0 and T5 and 1 gene has reduced expression. The genes showing the greatest increase in expression following challenge (5.65 to 3.16 fold change) play an important role in (i) immune and inflammatory response (NFKB1, TNFAIP6, BASP1, IRF1, PLEK, BATF3); (ii) the regulation of innate resistance to pathogens (PTX3); and (iii) the regulation of cell metabolism (CYTH4, SLC2A6, ARG2). The genes with reduced expression (−1.5 to −2.5 fold) included genes involved in (i) lipid metabolism (ABCG2, FASN), (ii) chemokine, cytokine and intracellular signalling (SPPI), and (iii) cell cytoskeleton and extracellular matrix (KRT19).

Conclusions
Analysis of genes with differential expression following infection showed an inverse relationship between immune response and lipid metabolism in the early response of the mammary gland to the S. aureus challenge. PTX3 showed a large change in expression in both milk and blood, and is therefore a candidate for further studies on immune response associated with mastitis.
Ubiquitous Gasp1 overexpression in mice leads mainly to a hypermuscular phenotype
Authors: Monestier Olivier , Brun Caroline , Heu Katy , Passet Bruno , Malhouroux Mélanie , Magnol Laetitia , Vilotte Jean-Luc , Blanquet Véronique 
Published: October 2012

Abstract

Background
Myostatin, a member of the TGFβ superfamily, is well known as a potent and specific negative regulator of muscle growth. Targeting the myostatin signalling pathway may offer promising therapeutic strategies for the treatment of muscle-wasting disorders. In the last decade, various myostatin-binding proteins have been identified to be able to inhibit myostatin activity. One of these is GASP1 (Growth and Differentiation Factor-Associated Serum Protein-1), a protein containing a follistatin domain as well as multiple domains associated with protease inhibitors. Despite in vitro data, remarkably little is known about in vivo functions of Gasp1. To further address the role of GASP1 during mouse development and in adulthood, we generated a gain-of-function transgenic mouse model that overexpresses Gasp1 under transcriptional control of the human cytomegalovirus immediate-early promoter/enhancer.

Results
Overexpression of Gasp1 led to an increase in muscle mass observed not before day 15 of postnatal life. The surGasp1 transgenic mice did not display any other gross abnormality. Histological and morphometric analysis of surGasp1 rectus femoris muscles revealed an increase in myofiber size without a corresponding increase in myofiber number. Fiber-type distribution was unaltered. Interestingly, we do not detect a change in total fat mass and lean mass. These results differ from those for myostatin knockout mice, transgenic mice overexpressing the myostatin propeptide or follistatin which exhibit both muscle hypertrophy and hyperplasia, and show minimal fat deposition.

Conclusions
Altogether, our data give new insight into the in vivo functions of Gasp1. As an extracellular regulatory factor in the myostatin signalling pathway, additional studies on GASP1 and its homolog GASP2 are required to elucidate the crosstalk between the different intrinsic inhibitors of the myostatin.
Comparative genomics of the classical Bordetella subspecies: the evolution and exchange of virulence-associated diversity amongst closely related pathogens
Authors: Park Jihye , Zhang Ying , Buboltz Anne M , Zhang Xuqing , Schuster Stephan C , Ahuja Umesh , Liu Minghsun , Miller Jeff F , Sebaihia Mohammed , Bentley Stephen D , Parkhill Julian , Harvill Eric T 
Published: October 2012

Abstract

Background
The classical Bordetella subspecies are phylogenetically closely related, yet differ in some of the most interesting and important characteristics of pathogens, such as host range, virulence and persistence. The compelling picture from previous comparisons of the three sequenced genomes was of genome degradation, with substantial loss of genome content (up to 24%) associated with adaptation to humans.

Results
For a more comprehensive picture of lineage evolution, we employed comparative genomic and phylogenomic analyses using seven additional diverse, newly sequenced Bordetella isolates. Genome-wide single nucleotide polymorphism (SNP) analysis supports a reevaluation of the phylogenetic relationships between the classical Bordetella subspecies, and suggests a closer link between ovine and human B. parapertussis lineages than has been previously proposed. Comparative analyses of genome content revealed that only 50% of the pan-genome is conserved in all strains, reflecting substantial diversity of genome content in these closely related pathogens that may relate to their different host ranges, virulence and persistence characteristics. Strikingly, these analyses suggest possible horizontal gene transfer (HGT) events in multiple loci encoding virulence factors, including O-antigen and pertussis toxin (Ptx). Segments of the pertussis toxin locus (ptx) and its secretion system locus (ptl) appear to have been acquired by the classical Bordetella subspecies and are divergent in different lineages, suggesting functional divergence in the classical Bordetellae.

Conclusions
Together, these observations, especially in key virulence factors, reveal that multiple mechanisms, such as point mutations, gain or loss of genes, as well as HGTs, contribute to the substantial phenotypic diversity of these versatile subspecies in various hosts.
Rapid identification of Burkholderia mallei and Burkholderia pseudomalleiby intact cell Matrix-assisted Laser Desorption/Ionisation mass spectrometric typing
Authors: Karger Axel , Stock Rüdiger , Ziller Mario , Elschner Mandy C , Bettin Barbara , Melzer Falk , Maier Thomas , Kostrzewa Markus , Scholz Holger C , Neubauer Heinrich , Tomaso Herbert 
Published: October 2012

Abstract

Background

Burkholderia (B.) pseudomallei and B. mallei are genetically closely related species. B. pseudomallei causes melioidosis in humans and animals, whereas B. mallei is the causative agent of glanders in equines and rarely also in humans. Both agents have been classified by the CDC as priority category B biological agents. Rapid identification is crucial, because both agents are intrinsically resistant to many antibiotics. Matrix-assisted laser desorption/ionisation mass spectrometry (MALDI-TOF MS) has the potential of rapid and reliable identification of pathogens, but is limited by the availability of a database containing validated reference spectra. The aim of this study was to evaluate the use of MALDI-TOF MS for the rapid and reliable identification and differentiation of B. pseudomallei and B. mallei and to build up a reliable reference database for both organisms.

Results
A collection of ten B. pseudomallei and seventeen B. mallei strains was used to generate a library of reference spectra. Samples of both species could be identified by MALDI-TOF MS, if a dedicated subset of the reference spectra library was used. In comparison with samples representing B. mallei, higher genetic diversity among B. pseudomallei was reflected in the higher average Eucledian distances between the mass spectra and a broader range of identification score values obtained with commercial software for the identification of microorganisms. The type strain of B. pseudomallei (ATCC 23343) was isolated decades ago and is outstanding in the spectrum-based dendrograms probably due to massive methylations as indicated by two intensive series of mass increments of 14 Da specifically and reproducibly found in the spectra of this strain.

Conclusions
Handling of pathogens under BSL 3 conditions is dangerous and cumbersome but can be minimized by inactivation of bacteria with ethanol, subsequent protein extraction under BSL 1 conditions and MALDI-TOF MS analysis being faster than nucleic amplification methods. Our spectra demonstrated a higher homogeneity in B. mallei than in B. pseudomallei isolates. As expected for closely related species, the identification process with MALDI Biotyper software (Bruker Daltonik GmbH, Bremen, Germany) requires the careful selection of spectra from reference strains. When a dedicated reference set is used and spectra of high quality are acquired, it is possible to distinguish both species unambiguously. The need for a careful curation of reference spectra databases is stressed.
Patient understanding of the revised USPSTF screening mammogram guidelines: need for development of patient decision aids
Authors: Allen Summer V , Solberg Nes Lise , Marnach Mary L , Polga Kristen , Jenkins Sarah M , Files Julia A , Croghan Ivana T , Ghosh Karthik , Pruthi Sandhya 
Published: October 2012

Abstract

Background
The purpose of the study was to examine patients’ understanding of the revised screening mammogram guidelines released by the United States Preventive Services Task Force (USPSTF) in 2009 addressing age at initiation and frequency of screening mammography.

Methods
Patients from the Departments of Family Medicine, Internal Medicine, and Obstetrics and Gynecology (n = 150) at a tertiary care medical center in the United States completed a survey regarding their understanding of the revised USPSTF guidelines following their release, within four to six months of their scheduled mammogram (March 2010 to May 2010).

Results
Of the patients surveyed, 97/147 (67%) indicated increased confusion regarding the age and frequency of screening mammography, 61/148 (41%) reported increased anxiety about mammograms, and 58/146 (40%) reported anxiety about their own health status following the release of the revised screening guidelines. Most of the patients surveyed, 111/148 (75%), did not expect to change their timing or frequency of screening mammograms in the future.

Conclusion
Results from this survey suggested increased confusion and possibly an increase in patients’ anxiety related to screening mammography and their own health status following the release of the revised USPSTF screening mammogram guidelines to the public and subsequent media portrayal of the revised guidelines. Although the study did not specifically address causality for these findings, the results highlight the need for improvements in the communication of guidelines to patients and the public. Development of shared decision-making tools and outcomes should be considered to address the communication challenge.
Survey of physician experiences and perceptions about the diagnosis and treatment of fibromyalgia
Authors: Perrot Serge , Choy Ernest , Petersel Danielle , Ginovker Anna , Kramer Erich 
Published: October 2012

Abstract

Background
Fibromyalgia (FM) is a condition characterized by widespread pain and is estimated to affect 0.5-5% of the general population. Historically, it has been classified as a rheumatologic disorder, but patients consult physicians from a variety of specialties in seeking diagnosis and ultimately treatment. Patients report considerable delay in receiving a diagnosis after initial presentation, suggesting diagnosis and management of FM might be a challenge to physicians.

Methods
A questionnaire survey of 1622 physicians in six European countries, Mexico and South Korea was conducted. Specialties surveyed included primary care physicians (PCPs; n=809) and equal numbers of rheumatologists, neurologists, psychiatrists and pain specialists.

Results
The sample included experienced doctors, with an expected clinical caseload for their specialty. Most (>80%) had seen a patient with FM in the last 2 years. Overall, 53% of physicians reported difficulty with diagnosing FM, 54% reported their training in FM was inadequate, and 32% considered themselves not knowledgeable about FM. Awareness of American College of Rheumatology classification criteria ranged from 32% for psychiatrists to 83% for rheumatologists. Sixty-four percent agreed patients found it difficult to communicate FM symptoms, and 79% said they needed to spend more time to identify FM. Thirty-eight percent were not confident in recognizing the symptoms of FM, and 48% were not confident in differentiating FM from conditions with similar symptoms. Thirty-seven percent were not confident developing an FM treatment plan, and 37% were not confident managing FM patients long-term. In general, rheumatologists reported least difficulties/greatest confidence, and PCPs and psychiatrists reported greatest difficulties/least confidence.

Conclusions
Diagnosis and managing FM is challenging for physicians, especially PCPs and psychiatrists, but other specialties, including rheumatologists, also express difficulties. Improved training in FM and initiatives to improve patient-doctor communication are needed and may help the management of this condition.