bluuebunny/crossref_metadata_2025_split huggingface dataset:
Atypical rearrangement involving 3′-IGH@ and a breakpoint at least 400 Kb upstream of an intact MYC in a CLL patient with an apparently balanced t(8;14)(q24.1;q32) and negative MYC expression
Authors: Amarillo Ina , Bui Peter H , Kantarci Sibel , Rao Nagesh , Shackley Brit S , García Rolando , Tirado Carlos A 
Published: February 2013

Abstract
The t(8;14)(q24.1;q32), the cytogenetic hallmark of Burkitt’s lymphoma, is also found, but rarely, in cases of chronic lymphocytic leukemia (CLL). Such translocation typically results in a MYC-IGH@ fusion subsequently deregulating and overexpressing MYC on der 14q32. In CLL, atypical rearrangements resulting in its gain or loss, within or outside of IGH@ or MYC locus, have been reported, but their clinical significance remains uncertain. Herein, we report a 67 year-old male with complex cytogenetic findings of apparently balanced t(8;14) and unreported complex rearrangements of IGH@ and MYC loci. His clinical, morphological and immunophenotypic features were consistent with the diagnosis of CLL.
Interphase FISH studies revealed deletions of 11q22.3 and 13q14.3, and an extra copy of IGH@, indicative of rearrangement. Karyotype analysis showed an apparently balanced t(8;14)(q24.1;q32). Sequential GPG-metaphase FISH studies revealed abnormal signal patterns: rearrangement of IGH break apart probe with the 5’-IGH@ on derivative 8q24.1 and the 3’-IGH@ retained on der 14q; absence of MYC break apart-specific signal on der 8q; and, the presence of unsplit 5’-MYC-3’ break apart probe signals on der 14q. The breakpoint on 8q24.1 was found to be at least 400 Kb upstream of 5’ of MYC. In addition, FISH studies revealed two abnormal clones; one with 13q14.3 deletion, and the other, with concurrent 11q deletion and atypical rearrangements. Chromosome microarray analysis (CMA) detected a 7.1 Mb deletion on 11q22.3-q23.3 including ATM, a finding consistent with FISH results. While no significant copy number gain or loss observed on chromosomes 8, 12 and 13, a 455 Kb microdeletion of uncertain clinical significance was detected on 14q32.33. Immunohistochemistry showed co-expression of CD19, CD5, and CD23, positive ZAP-70 expression and absence of MYC expression. Overall findings reveal an apparently balanced t(8;14) and atypical complex rearrangements involving 3’-IGH@ and a breakpoint at least 400 Kb upstream of MYC, resulting in the relocation of the intact 5’-MYC-3’ from der 8q, and apposition to 3’-IGH@ at der 14q. This case report provides unique and additional cytogenetic data that may be of clinical significance in such a rare finding in CLL. It also highlights the utility of conventional and sequential metaphase FISH in understanding complex chromosome anomalies and their association with other clinical findings in patients with CLL. To the best of our knowledge, this is the first CLL reported case with such an atypical rearrangement in a patient with a negative MYC expression.
Does HPV type affect outcome in oropharyngeal cancer?
Authors: Nichols Anthony C , Dhaliwal Sandeep S , Palma David A , Basmaji John , Chapeskie Corina , Dowthwaite Samuel , Franklin Jason H , Fung Kevin , Kwan Keith , Wehrli Brett , Howlett Chris , Siddiqui Iram , Salvadori Marina I , Winquist Eric , Ernst Scott , Kuruvilla Sara , Read Nancy , Venkatesan Varagur , Todorovic Biljana , Hammond J Alex , Koropatnick James , Mymryk Joe S , Yoo John , Barrett John W 
Published: February 2013

Background An epidemic of human papillomavirus (HPV)-related oropharyngeal squamous cell cancer (OPSCC) has been reported worldwide largely due to oral infection with HPV type-16, which is responsible for approximately 90% of HPV-positive cases. The purpose of this study was to determine the rate of HPV-positive oropharyngeal cancer in Southwestern Ontario, Canada. Methods A retrospective search identified ninety-five patients diagnosed with OPSCC. Pre-treatment biopsy specimens were tested for p16 expression using immunohistochemistry and for HPV-16, HPV-18 and other high-risk subtypes, including 31,33,35,39,45,51,52,56,58,59,67,68, by real-time qPCR. Results Fifty-nine tumours (62%) were positive for p16 expression and fifty (53%) were positive for known high-risk HPV types. Of the latter, 45 tumors (90%) were identified as HPV-16 positive, and five tumors (10%) were positive for other high-risk HPV types (HPV-18 (2), HPV-67 (2), HPV-33 (1)). HPV status by qPCR and p16 expression were extremely tightly correlated (p < 0.001, Fishers exact test). Patients with HPV-positive tumors had improved 3-year overall (OS) and disease-free survival (DFS) compared to patients with HPV-negative tumors (90% vs 65%, p = 0.001; and 85% vs 49%, p = 0.005; respectively). HPV-16 related OPSCC presented with cervical metastases more frequently than other high-risk HPV types (p = 0.005) and poorer disease-free survival was observed, although this was not statistically significant. Conclusion HPV-16 infection is responsible for a significant proportion of OPSCC in Southwestern Ontario. Other high-risk subtypes are responsible for a smaller subset of OPSCC that present less frequently with cervical metastases and may have a different prognosis.
The skin prick test – European standards
Authors: Heinzerling Lucie , Mari Adriano , Bergmann Karl‐Christian , Bresciani Megon , Burbach Guido , Darsow Ulf , Durham Stephen , Fokkens Wytske , Gjomarkaj Mark , Haahtela Tari , Bom Ana Todo , Wöhrl Stefan , Maibach Howard , Lockey Richard 
Published: February 2013

AbstractSkin prick testing is an essential test procedure to confirm sensitization in IgE‐mediated allergic disease in subjects with rhinoconjunctivitis, asthma, urticaria, anapylaxis, atopic eczema and food and drug allergy. This manuscript reviews the available evidence including Medline and Embase searches, abstracts of international allergy meetings and position papers from the world allergy literature. The recommended method of prick testing includes the appropriate use of specific allergen extracts, positive and negative controls, interpretation of the tests after 15 – 20 minutes of application, with a positive result defined as a wheal ≥3 mm diameter. A standard prick test panel for Europe for inhalants is proposed and includes hazel (Corylus avellana), alder (Alnus incana), birch (Betula alba), plane (Platanus vulgaris), cypress (Cupressus sempervirens), grass mix (Poa pratensis, Dactilis glomerata, Lolium perenne, Phleum pratense, Festuca pratensis, Helictotrichon pretense), Olive (Olea europaea), mugwort (Artemisia vulgaris), ragweed (Ambrosia artemisiifolia), Alternaria alternata (tenuis), Cladosporium herbarum, Aspergillus fumigatus, Parietaria, cat, dog, Dermatophagoides pteronyssinus, Dermatophagoides farinae, and cockroach (Blatella germanica). Standardization of the skin test procedures and standard panels for different geographic locations are encouraged worldwide to permit better comparisons for diagnostic, clinical and research purposes.
Genome of Acanthamoeba castellanii highlights extensive lateral gene transfer and early evolution of tyrosine kinase signaling
Authors: Clarke Michael , Lohan Amanda J , Liu Bernard , Lagkouvardos Ilias , Roy Scott , Zafar Nikhat , Bertelli Claire , Schilde Christina , Kianianmomeni Arash , Bürglin Thomas R , Frech Christian , Turcotte Bernard , Kopec Klaus O , Synnott John M , Choo Caleb , Paponov Ivan , Finkler Aliza , Heng Tan Chris Soon , Hutchins Andrew P , Weinmeier Thomas , Rattei Thomas , Chu Jeffery SC , Gimenez Gregory , Irimia Manuel , Rigden Daniel J , Fitzpatrick David A , Lorenzo-Morales Jacob , Bateman Alex , Chiu Cheng-Hsun , Tang Petrus , Hegemann Peter , Fromm Hillel , Raoult Didier , Greub Gilbert , Miranda-Saavedra Diego , Chen Nansheng , Nash Piers , Ginger Michael L , Horn Matthias , Schaap Pauline , Caler Lis , Loftus Brendan J 
Published: February 2013

Abstract
Background
The Amoebozoa constitute one of the primary divisions of eukaryotes, encompassing taxa of both biomedical and evolutionary importance, yet its genomic diversity remains largely unsampled. Here we present an analysis of a whole genome assembly of Acanthamoeba castellanii (Ac) the first representative from a solitary free-living amoebozoan.

Results
Ac encodes 15,455 compact intron-rich genes, a significant number of which are predicted to have arisen through inter-kingdom lateral gene transfer (LGT). A majority of the LGT candidates have undergone a substantial degree of intronization and Ac appears to have incorporated them into established transcriptional programs. Ac manifests a complex signaling and cell communication repertoire, including a complete tyrosine kinase signaling toolkit and a comparable diversity of predicted extracellular receptors to that found in the facultatively multicellular dictyostelids. An important environmental host of a diverse range of bacteria and viruses, Ac utilizes a diverse repertoire of predicted pattern recognition receptors, many with predicted orthologous functions in the innate immune systems of higher organisms.

Conclusions
Our analysis highlights the important role of LGT in the biology of Ac and in the diversification of microbial eukaryotes. The early evolution of a key signaling facility implicated in the evolution of metazoan multicellularity strongly argues for its emergence early in the Unikont lineage. Overall, the availability of an Ac genome should aid in deciphering the biology of the Amoebozoa and facilitate functional genomic studies in this important model organism and environmental host.
When the drugs don't work: the potential of glutamatergic antipsychotics in schizophrenia
Authors: Papanastasiou Evangelos , Stone James M. , Shergill Sukhi 
Published: February 2013

SummaryCurrently available antipsychotic drugs target dopaminergic neurotransmission. Many patients do not respond fully to these treatments, and there has been considerable effort to investigate alternative targets. Here we summarise the rationale and recent evidence supporting efforts to develop glutamatergic antipsychotic drugs.
Effectiveness of cognitive analytic therapy for personality disorders
Authors: Mulder Roger , Chanen Andrew M. 
Published: February 2013

SummaryPersonality disorders affect up to 50% of psychiatric out-patients. Most treatment studies have been performed in patients with borderline personality disorder. Structured psychosocial interventions for people with borderline personality disorders appear to have similar efficacy. There is some evidence that non-structured, non-specialised treatments offered by psychiatric general services might be ineffective and possibly harmful in patients with personality disorders. Cognitive analytic therapy is a time-limited, integrative psychotherapy, which appears to be effective for a range of personality disorders and superior to treatment as usual. Its practical nature and relatively short time limit may make it suitable for front-line clinical services.
Use of liothyronine in preventing electroconvulsive therapy-induced memory impairment: evaluation
Authors: Masoudzadeh Abbas , Yahyavi Seyyed Taha , Rashidi Hooman , Mohammadpour Reza Ali , Kiani Reza 
Published: February 2013

Aims and methodTo evaluate the effect of liothyronine administration on the cognitive side-effects of electroconvulsive therapy (ECT), 30 participants with major depressive disorder that were suitable candidates for ECT were randomly allocated to either a liothyronine or a placebo group. Participants in the liothyronine group received a daily 50 μg dose for the whole period of receiving ECT starting the day before ECT, whereas the other group received a placebo. The Hamilton Rating Scale for Depression (HRSD) and the Wechsler Memory Scale – revised (WMS-R) were used for evaluating mood and memory before the first ECT session and after the sixth session (the HRSD was also used after the third session).ResultsThe results indicated that after the sixth ECT session, participants that received liothyronine achieved significantly better scores on the HRSD and WMS-R.Clinical implicationsFurther studies with a larger number of participants, through multicentre research projects, are indicated to obtain adequate data for meta-analysis and systematic review.
How to run a psychiatry summer school
Authors: Greening Jayne , Tarn Mark , Purkis Judy 
Published: February 2013

SummaryGraduates in the UK are not choosing a career in psychiatry. This paper sets out to do three related things: review the factors that attract and deter medical students from a career in psychiatry, describe the provision of current summer schools and special programmes in psychiatry, and provide detail of how initiatives such as summer schools may be set up, run and evaluated locally to potentially address some of those issues identified in the first section.
Proposed changes for substance use and gambling disorders in DSM-5: impact on assessment and treatment in the UK
Authors: Petry Nancy M. , Bowden-Jones Henrietta , George Sanju 
Published: February 2013

SummaryIn the USA, DSM-5 is scheduled for publication in 2013. It is likely to include some substantial changes to the diagnosis of substance use disorders and pathological gambling. This paper reviews the proposed changes to these diagnoses and their potential impact on diagnosis, treatment and research of these disorders in the UK.
Community treatment orders – principles and attitudes
Authors: Sharma Vimal Kumar 
Published: February 2013

SummaryThe community treatment order (CTO) was implemented in 2008 as part of the 2007 amendments to the Mental Health Act 1983. Initially, health professionals and patient groups were sceptical about the successful implementation of CTOs. However, as more than the expected number of patients has been subjected to CTOs in the past 3 years in England and Wales, the professionals' views are shifting in favour of CTOs. More needs to be done to improve the approach and attitude of care providers so that CTOs are used in the most appropriate and effective way for the patients.
Involuntary out-patient commitment: 2-year follow-up
Authors: Castells-Aulet Laura , Hernández-Viadel Miguel , Asensio-Pascual Pedro , Cañete-Nicolás Carlos , Bellido-Rodríguez Carmen , Lera-Calatayud Guillem , Calabuig-Crespo Roman 
Published: February 2013

Aims and methodTo evaluate the impact of involuntary out-patient commitment (OPC) in patients with severe mental disorder who use hospital services. This is a retrospective–observational study in a population of 91 patients under OPC. The psychiatric diagnosis, sociodemographic variables, who requested the court order and for what motive were studied. The study also looked at the use of the available health services (emergency room visits, admissions, average length of hospital stay) for the period beginning 2 years before and ending 2 years after the initiation of the OPC.ResultsThe number of emergency room visits, admissions and the length of hospitalisation diminished in the 2 years following the initiation of the OPC. In terms of diagnosis, the OPC has the most impact on individuals with schizophrenia and delusional disorder.Clinical implicationsThe OPC can be useful for certain patients with severe mental disorder, particularly individuals with schizophrenia and delusional disorder.
Roles of Chemokine Ligand-2 (CXCL2) and Neutrophils in Influencing Endothelial Cell Function and Inflammation of Human Adipose Tissue
Authors: Rouault Christine , Pellegrinelli Vanessa , Schilch Raphaela , Cotillard Aurélie , Poitou Christine , Tordjman Joan , Sell Henrike , Clément Karine , Lacasa Danièle 
Published: February 2013

Abstract
The hypertrophied white adipose tissue (WAT) during human obesity produces inflammatory mediators, including cytokines (IL-6 and TNFα) and chemokines ([C-C motif] chemokine ligand 2 and IL-8). These inflammatory factors are preferentially produced by the nonadipose cells, particularly the adipose tissue infiltrating macrophages. We identified the chemokine (C-X-C motif) ligand 2 (CXCL2) by a transcriptomic approach. Because CXCL2 could represent a WAT-produced chemokine, we explored its role in obesity-associated inflammation. CXCL2 levels in serum and mRNA in WAT were higher in obese subjects compared with lean ones. CXCL2 secretions were higher in sc and visceral (vis) WAT from obese compared with lean subjects. In vis WAT, CXCL2 mRNA expression was higher in macrophages compared with other WAT cells and positively correlated with the inflammatory macrophage markers TNFα and IL-6. CXCL2 triggered the in vitro adhesion of the neutrophils, its selective cell targets, to endothelial cells (ECs) of vis WAT (vis WAT-ECs). Immunohistological analysis indicated that activated neutrophils were adherent to the endothelium of vis WAT from human obese subjects. Blood neutrophils from obese subjects released high levels of proinflammatory mediators (IL-8, chemokine motif ligand 2 [CCL2], matrix metalloproteinase [MMP] 9, and myeloperoxidase [MPO]). Visceral WAT-ECs, treated by neutrophil-conditioned media prepared from obese subjects, displayed an increase of the expression of inflammatory molecules associated with senescence and angiogenic capacities. To conclude, CXCL2, a WAT-produced chemokine being up-regulated in obesity, stimulates neutrophil adhesion to vis WAT-ECs. Activated neutrophils in obesity may influence vis WAT-ECs functions and contribute to WAT inflammation.
Peptide Hormone Release Monitored From Single Vesicles in “Membrane Lawns” of Differentiated Male Pituitary Cells: SNAREs and Fusion Pore Widening
Authors: Stenovec Matjaž , Gonçalves Paula P. , Zorec Robert 
Published: February 2013

AbstractIn this study we used live-cell immunocytochemistry and confocal microscopy to study the release from a single vesicle in a simplified system called membrane lawns. The lawns were prepared by exposing differentiated pituitary prolactin (PRL)-secreting cells to a hypoosmotic shear stress. The density of the immunolabeled ternary soluble N-ethylmaleimide-sensitive factor-attachment protein receptor (SNARE) complexes that bind complexin was approximately 10 times lower than the PRL-positive, lawn-resident vesicles; this indicates that some but not all vesicles are associated with ternary SNARE complexes. However, lawn-resident PRL vesicles colocalized relatively well with particular SNARE proteins: synaptobrevin 2 (35%), syntaxin 1 (22%), and 25-kDa synaptosome associated protein (6%). To study vesicle discharge, we prepared lawn-resident vesicles, derived from atrial natriuretic peptide tagged with emerald fluorescent protein (ANP.emd)-transfected cells, which label vesicles. These maintained the structural passage to the exterior because approximately 40% of ANP.emd-loaded vesicles were labeled by extracellular PRL antibodies. Cargo release from the lawn-resident vesicles, monitored by the decline in the ANP.emd fluorescence intensity, was similar to that in intact cells. It is likely that SNARE proteins are required for calcium-dependent release from these vesicles. This is because the expression of the dominant-negative SNARE peptide, which interferes with SNARE complex formation, reduced the number of PRL-positive spots per cell (PRL antibodies placed extracellularly) significantly, from 58 ± 9 to 4 ± 2. In dominant-negative SNARE-treated cells, the PRL-positive area was reduced from 0.259 ± 0.013 to 0.123 ± 0.014 μm2, which is consistent with a hindered vesicle luminal access for extracellular PRL antibodies. These results indicate that vesicle discharge is regulated by SNARE-mediated fusion pore widening.
Dopamine Mediates Testosterone-Induced Social Reward in Male Syrian Hamsters
Authors: Bell Margaret R. , Sisk Cheryl L. 
Published: February 2013

Abstract
Adolescent maturation of responses to social stimuli is essential for adult-typical sociosexual behavior. Naturally occurring developmental changes in male Syrian hamster responses to a salient social cue, female hamster vaginal secretions (VS), provide a good model system for investigating neuroendocrine mechanisms of adolescent change in social reward. Sexually naïve adult, but not juvenile, males show a conditioned place preference (CPP) to VS, indicating that VS is not rewarding before puberty. In this series of experiments, the authors examined the roles of testosterone and dopamine receptor activation in mediating the adolescent gain in positive valence of VS. Experiment 1 showed that testosterone replacement is necessary for gonadectomized adult hamsters to form a CPP to VS. Experiment 2 showed that testosterone treatment is sufficient for juvenile hamsters to form a CPP to VS, and that the dopamine receptor antagonist haloperidol blocks formation of a CPP to VS in these animals. Experiments 3 and 4 demonstrated that the disruption of VS CPP with low doses of haloperidol is the result of a reduction in the attractive properties of VS and not attributable to aversive properties of haloperidol. Together, these studies demonstrate that the unconditioned rewarding properties of a social cue necessary for successful adult sociosexual interactions come about as the result of the pubertal increase in circulating testosterone in male hamsters. Furthermore, this social reward can be prevented by dopamine receptor antagonism, indicating that hypothalamic and/or mesocorticolimbic dopaminergic circuits are targets for hormonal activation of social reward.
G-Fano threefolds, I
Authors: Prokhorov Yuri 
Published: February 2013

Abstract
We classify Fano threefolds with only terminal singularities whose canonical class is Cartier and divisible by 2 with the additional assumption that the G-invariant part of the Weil divisor class group is of rank 1 with respect to an action of some group G. In particular, we find a lot of examples of Fano 3-folds with “many” symmetries.
The importance of induced aberrations in the correction of secondary color
Authors: Rogers John R. 
Published: February 2013

Abstract
Much publicity has been given to the art and science of choosing glass types for the reduction of secondary color, particularly for systems (such as achromats) in which all the elements are in contact. Although it has long been recognized that airspaces between elements can influence chromatic aberration and can even be used to reduce or correct secondary color, comparatively, little emphasis has been placed on this in the published literature. This tutorial is intended to call attention to the induced component of secondary color and suggests methods for improving color correction.
Influence of partial unfolding and aggregation of human stefin B (cystatin B) EPM1 mutants G50E and Q71P on selective cleavages by cathepsins B and S
Authors: Polajnar Mira , Vidmar Robert , Vizovišek Matej , Fonović Marko , Kopitar-Jerala Nataša , Žerovnik Eva 
Published: February 2013

Abstract
Human stefins and cystatins are physiologically important cysteine proteinase inhibitors, acting as a first line of defense against undesirable proteolysis. Mutations in the cystatin B gene cause a rare form of epilepsy EPM1. Its two missense mutants, G50E and Q71P, lack the inhibitory activity and are partially unfolded, which leads to changes in their aggregation behavior, both in vitro and in the cell. SDS-PAGE and MALDI-TOF mass spectrometry were used to follow the hydrolysis of human stefin B wild type, G50E and Q71P, by cathepsins B and S in vitro. Cathepsin S was found to degrade both mutants, with Q71P being degraded faster. This correlates with the openness of the protein structure, Q71P having more exposed hydrophobic surfaces. Cathepsin B acted more selectively, degrading G50E into smaller fragments, while still leaving a portion of the full-length protein intact. Q71P was cleaved only at the exposed N-terminal end. The co-localization of stefin B wild type and EPM1 mutants with cathepsins showed that cathepsins accumulate around the aggregates formed by the EPM1 mutants. We hypothesize that the aggregation of both full-length mutants prevents the cathepsin molecule from accessing the substrate protein’s core, whereas the cleaved fragments would be expected to aggregate stronger.