bluuebunny/crossref_metadata_2025_split huggingface dataset:
Evaluation of bone involvement in patients with Gaucher disease: a semi‐quantitative magnetic resonance imaging method (using ROI estimation of bone lesion) as an alternative method to semi‐quantitative methods used so far
Authors: Komninaka Veroniki , Kolomodi Dionysia , Christoulas Dimitrios , Marinakis Theodoros , Papatheodorou Athanasios , Repa Konstantina , Voskaridou Ersi , Revenas Konstantinos , Terpos Evangelos 
Published: January 2015

AbstractObjectiveThe aim of this study was to evaluate bone involvement in patients with Gaucher disease (GD) and to propose a novel semi‐quantitative magnetic resonance imaging (MRI) staging.MethodsMRI of the lumbar spine, femur, and tibia was performed in 24 patients with GD and 24 healthy controls. We also measured circulating levels of C‐C motif ligand‐3 (CCL‐3) chemokine, C‐telopeptide of collagen type‐1 (CTX), and tartrate‐resistant acid phosphatase isoform type‐b (TRACP‐5b).ResultsWe used the following staging based on MRI data: stage I: region of interest (ROI) 1/2 of normal values and bone infiltration up to 30%; stage II: ROI 1/3 of normal values and bone infiltration from 30 to 60%; stage III: ROI 1/4 of normal values and bone infiltration from 60% to 80%; and stage IV: detection of epiphyseal infiltration, osteonecrosis and deformity regardless of the ROI's values. All but two patients had abnormal MRI findings: 9 (37.5%), 6 (25%), 3 (12.5%), and 4 (16.7%) had stages I–IV, respectively. Patients with GD had elevated chitotriosidase, serum TRACP‐5b, and CCL‐3 levels (P < 0.001).ConclusionsWe propose an easily reproducible semi‐quantitative scoring system and confirm that patients with GD have abnormal MRI bone findings and enhanced osteoclast activity possibly due to elevated CCL‐3.
Characterization of a new human plasma cell leukemia cell line UHKT‐944
Authors: Vyhlídalová Ilona , Uherková Lenka , Pleschnerová Markéta , Špička Ivan , Březinová Jana , Michalová Kyra , Čermáková Kamila , Polanská Veronika , Jedelský Petr L. , Hamšíková Eva , Kuželová Kateřina , Stöckbauer Petr 
Published: January 2015

AbstractObjectiveA new interleukin‐6 (IL‐6)‐dependent plasma cell leukemia cell line UHKT‐944 was established from bone marrow cells derived from a 55‐yr‐old man with plasma cell leukemia.ResultsThe cell line possesses phenotypic characteristics of plasma cells including the production of a monoclonal immunoglobulin IgA1‐kappa. VH3‐9 region of IgVH genes was rearranged and somatically hypermutated. The UHKT‐944 cells were found to be negative for most of tested B‐cell, T‐cell, and myeloid markers. According to cytogenetic analysis, the cells were classified as near tetraploid with several numerical and structural abnormalities including the t(14;20) involving IgH locus.ConclusionThe established permanent plasma cell leukemia cell line is a suitable model for the study of cellular and molecular mechanisms of pathogenesis of this rare malignant disease.
Activation of protein kinase C by phorbol ester increases red blood cell scramblase activity and external phosphatidylserine
Authors: Barber Latorya A. , Palascak Mary B. , Qi Xiaoyang , Joiner Clinton H. , Franco Robert S. 
Published: January 2015

AbstractExternalization of phosphatidylserine (PS) is thought to contribute to sickle cell disease (SCD) pathophysiology. The red blood cell (RBC) aminophospholipid translocase (APLT) mediates the transport of PS from the outer to the inner RBC membrane leaflet to maintain an asymmetric distribution of PL, while phospholipid scramblase (PLSCR) equilibrates PL across the RBC membrane, promoting PS externalization. We previously identified an association between PS externalization level and PLSCR activity in sickle RBC under basal conditions. Other studies showed that activation of protein kinase C (PKC) by PMA (phorbol‐12‐myristate‐13‐acetate) causes increased external PS on RBC. Therefore, we hypothesized that PMA‐activated PKC stimulates PLSCR activity in RBC and thereby contributes to increased PS externalization. In the current studies, we show that PMA treatment causes immediate and variable PLSCR activation and subsequent PS externalization in control and sickle RBC. While TfR+ sickle reticulocytes display some endogenous PLSCR activity, we observed a robust activation of PLSCR in sickle reticulocytes treated with PMA. The PKC inhibitor, chelerythrine (Chel), significantly inhibited PMA‐dependent PLSCR activation and PS externalization. Chel also inhibited endogenous PLSCR activity in sickle reticulocytes. These data provide evidence that PKC mediates PS externalization in RBC through activation of PLSCR.
Efficacy and safety of a novel combination of two oral chelators deferasirox/deferiprone over deferoxamine/deferiprone in severely iron overloaded young beta thalassemia major patients
Authors: Elalfy Mohsen S. , Adly Amira M , Wali Yasser , Tony Samir , Samir Ahmad , Elhenawy Yasmine I. 
Published: January 2015

AbstractObjectiveMinimal data are available on the combined two oral iron chelators in β‐thalassemia major (β‐TM). Comparison of safety, efficacy, compliance, treatment satisfaction, and quality of life (QoL) of two regimens: deferiprone (DFP) and deferoxamine (DFO) versus DFP and deferasirox (DFX) were studied.MethodsA prospective randomized trial (NCT01511848) was conducted on 96 young β‐TM patients with severe iron overload. Patients were randomized to receive either DFP with DFO (arm 1) or DFP and DFX (arm 2). Efficacy endpoints were the difference between two groups in the change of serum ferritin (SF), liver iron concentration (LIC), cardiac MRI, and quality of life (QoL).ResultsIn both arms, SF and LIC at 12 months were significantly lower, and geometric mean cardiac T2* was higher compared to baseline. On regression analysis of change in each studied variable against time, significant difference between slopes of the two groups regarding cardiac T2* (P = 0.001 with more improvement in DFP/DFX patients) was found with no significant difference in the slopes of SF and LIC (P = 0.218 and 0.340).ConclusionBoth iron chelation combination regimens were equally effective in reducing iron overload and improving QoL.DFP/DFX combination proved superior in improving cardiac T2*, treatment compliance, and patients satisfaction with no greater adverse events.
Carbon accumulation and changes in soil chemistry in reclaimed open‐cast coal mining heaps near Sokolov using repeated measurement of chronosequence sites
Authors: Bartuska M. , Frouz J. 
Published: January 2015

SummaryAccumulation of soil organic matter and associated changes in soil chemistry are important drivers and indicators of ecosystem recovery at post‐mining sites. To understand the temporal changes in the ecosystem properties of these sites, researchers typically use a chronosequence approach and at one time they compare similar sites of various ages. Although useful, this approach has an important limitation, which is site variability. In this study, we amended the chronosequence approach by repeated measurements of sites after extended periods. We used post‐mining sites near Sokolov where the soil C stock and soil chemistry variables had been measured in 1999, 11 years before the current study. In 2010, we used the same methods to repeat these measurements at the same sites, allowing us to assess real‐time changes in the investigated variables in individual plots. All sites had been reclaimed by planting of alder in the graded overburden without topsoil application; the overburden consisted of alkaline clay shales. Sites were 4–45 years old in 1999 and 15–56 years old in 2010. Soil pH gradually deceased with site age; this decrease was more pronounced in the upper soil layer. Changes in pH between 1999 and 2010 were negatively correlated with the initial pH; as a consequence, pH decreased in alkaline sites and increased in acidic sites. Soil carbon (C) increased with site age but the rate of increase declined with site age. The average increases in C stock were similar as determined by the chronosequence and real‐time approaches. Changes in soil nitrogen content were similar to changes in soil C content. Phosphorus content did not differ significantly among sites but tended to be less at older than at younger sites.
A mechanistic model for describing the sorption and desorption of phosphate by soil
Authors: Barrow N. J. 
Published: January 2015

SummaryA model of phosphate reaction is constructed and its output compared with observations for the sorption and desorption of phosphate by soil. The model has three components: first, the reaction between divalent phosphate ions and a variable‐charge surface; second, the assumption that there is a range of values of surface properties and that these are normally distributed; third, the assumption that the initial adsorption induces a diffusion gradient towards the interior of the particle which begins a solid‐state diffusion process.The model closely describes the effects on sorption of phosphate of: concentration of phosphate, pH, temperature, and time of contact. It also reproduces the effects on desorption of phosphate of: period of prior contact, period and temperature of desorption, and soil: solution ratio. The model is general and should apply to other specifically adsorbed anions and cations. It suggests that phosphate that has reacted with soil for a long period is not ‘fixed’ but has mostly penetrated into the soil particles. The phosphorus can be recovered slowly if a low enough surface activity is induced.
BOLD responses related to focal spikes and widespread bilateral synchronous discharges generated in the frontal lobe
Authors: An Dongmei , Dubeau François , Gotman Jean 
Published: January 2015

SummaryObjectiveTo investigate whether specific frontal regions have a tendency to generate widespread bilateral synchronous discharges (WBSDs) and others focal spikes and to determine the regions most involved when WBSDs occur; to assess the relationships between the extent of electroencephalography (EEG) discharges and the extent of metabolic changes measured by EEG/functional magnetic resonance imaging (fMRI).MethodsThirty‐seven patients with interictal epileptic discharges (IEDs) with frontocentral predominance underwent EEG/fMRI. Patients were divided into a Focal (20 patients) group with focal frontal spikes and a WBSD group (17 patients). Maps of hemodynamic responses related to IEDs were compared between the two groups.ResultsThe mean number ± SD of IEDs in the Focal group was 137.5 ± 38.1 and in the WBSD group, 73.5 ± 16.6 (p = 0.07). The volume of hemodynamic responses in the WBSD group was significantly larger than in the Focal group (mean, 243.3 ± 41.1 versus 114.8 ± 27.4 cm3, p = 0.01). Maximum hemodynamic responses occurred in both groups in the following regions: dorsolateral prefrontal, mesial prefrontal, cingulate, and supplementary motor cortices. Maxima in premotor and motor cortex, frontal operculum, frontopolar, and orbitofrontal regions were found only in the Focal group, and maxima in thalamus and caudate only occurred in the WBSD group. Thalamic responses were significantly more common in the WBSD group (14/17) than in the Focal group (7/20), p = 0.004. Deactivation in the default mode network was significantly more common in the WBSD group (14/17) than in the Focal group (10/20), p = 0.04.SignificanceThe spatial distribution and extent of blood oxygen level–dependent (BOLD) responses correlate well with electrophysiologic changes. Focal frontal spikes and WBSDs are not region specific in the frontal lobe, and the same frontal region can generate focal and generalized discharges. This suggests that widespread discharges reflect widespread epileptogenicity rather than a focal discharge located in a region favorable to spreading. The thalamus plays an important role in bilateral synchronization.
Mathematical modelling suggests a differential impact of β‐transducin repeat‐containing protein paralogues on Wnt/β‐catenin signalling dynamics
Authors: Benary Uwe , Kofahl Bente , Hecht Andreas , Wolf Jana 
Published: January 2015

The Wnt/β‐catenin signalling pathway is involved in the regulation of a multitude of cellular processes by controlling the concentration of the transcriptional regulator β‐catenin. Proteasomal degradation of β‐catenin is mediated by two β‐transducin repeat‐containing protein paralogues, homologous to Slimb protein (HOS) and F‐box/WD repeat‐containing protein 1A (FWD1), which are functionally interchangeable and thereby considered to function redundantly in the pathway. HOS and FWD1 are both regulated by Wnt/β‐catenin signalling, albeit in opposite directions, thus establishing interlocked negative and positive feedback loops. The functional relevance of the opposite regulation of HOS and FWD1 by Wnt/β‐catenin signalling in conjunction with their redundant activities in proteasomal degradation of β‐catenin remains unresolved. Using a detailed ordinary differential equation model, we investigated the specific influence of each individual feedback mechanism and their combination on Wnt/β‐catenin signal transduction under wild‐type and cancerous conditions. We found that, under wild‐type conditions, the signalling dynamics are predominantly affected by the HOS feedback as a result of a higher concentration of HOS than FWD1. Transcriptional up‐regulation of FWD1 by other signalling pathways reduced the impact of the HOS feedback. The opposite regulation of HOS and FWD1 expression by Wnt/β‐catenin signalling allows the FWD1 feedback to be employed as a compensation mechanism against aberrant pathway activation as a result of a reduced HOS concentration. By contrast, the FWD1 feedback provides no protection against aberrant activation in adenomatous polyposis coli protein mutant cancer cells.
Temperature versus resource constraints: which factors determine bee diversity on Mount Kilimanjaro, Tanzania?
Authors: Classen Alice , Peters Marcell K. , Kindeketa William J. , Appelhans Tim , Eardley Connal D. , Gikungu Mary W. , Hemp Andreas , Nauss Thomas , Steffan‐Dewenter Ingolf 
Published: January 2015

AbstractAimUnderstanding the mechanisms controlling variation in species richness along environmental gradients is one of the most important objectives in ecology. Resource availability is often considered as the major driver of animal diversity. However, in ectotherms, temperature might play a predominant role as it modulates metabolic rates and the access of animals to resources. Here, we investigate the relative importance of resource availability and temperature in determining the diversity pattern of bees along a 3.6‐km elevational gradient.LocationMount Kilimanjaro, Tanzania.MethodsWe assessed bee species richness and abundance with pan traps and floral resources with transect records on 60 study sites which were equally distributed over six near‐natural and six disturbed habitat types along an elevational gradient from 870 to 4550 m a.s.l. We used path analysis to disentangle the effects of temperature, precipitation, floral resource abundance, bee abundance and land use on bee species richness. In addition, we monitored flower visitation rates during transect walks at different elevations to evaluate the temperature dependence of bee–flower interactions.ResultsBee species richness continuously declined with elevation in natural and disturbed habitats. While the abundance of floral resources had a significant but only weak effect on species richness, the effect of temperature was strong. Temperature had a strong positive effect on species richness that was not mediated by bee abundance and an indirect effect via bee abundances. We observed higher levels of bee–flower interactions at higher temperatures, supporting the hypothesis that temperature limits diversity by constraining resource exploitation in ectotherms.Main conclusionsTemperature and the availability of resources shape species richness patterns along environmental gradients. In ectothermic organisms like bees temperature seems to have the more important role, as it both limits the access to resources (abundance‐mediated effect) and accelerates other (abundance‐independent) ecological and evolutionary processes that drive the maintenance and origination of diversity.
Homelessness and stakeholders’ involvement in the Grand Duchy of Luxembourg: a qualitative study
Authors: Stona Anne‐Claire , Berrang Charles , Santerre Honorine , Georges Nathalie , Chimenti Rosa , Kneip René , Fond‐Harmant Laurence 
Published: January 2015

AbstractBackgroundIn 2013, between 150 and 200 people per night in the Grand Duchy of Luxembourg are estimated roofless. Abilities to respond to emergencies in the GDL are perceptibly decreased due to longer stays in emergency shelters. This study aimed to analyse the needs of long‐term homeless (LTH) individuals and to put forward professional recommendations to improve support and care for homeless individuals.MethodsA local, cross‐sectional, qualitative study carried out between February and September 2013 in the GDL. Semi‐structured interviews and focus groups were conducted with homeless people living in Caritas housing facilities permanently over a period of 2 years or temporarily over a period of 3 years, as well as Caritas professionals and Luxembourgish psychiatrists. They mainly focused on the homeless person's life pathways, needs and expectations, and difficulties encountered.ResultsTwenty‐two homeless persons, 13 professionals from Caritas and three Luxembourgish psychiatrists participated. Homeless persons’ needs and expectations consist of the following: (i) seeking freedom and peacefulness, (ii) having their own space, being independent and (iii) living like everyone else. Professionals mainly complained about difficulties for supporting LTH persons and the lack of collaboration with Luxembourg stakeholders from social and psychiatric departments.ConclusionThis study has found that the current approach is not appropriate for the management of LTHness in the country. This study recommends changes within the Caritas facilities and outside, on the basis of three concepts: (i) a decent home as an essential need, (ii) respect of freedom of choice and (iii) a housing‐first model.
Excision repair cross‐complementation group 1 protein expression predicts survival in patients with high‐grade, non‐metastatic osteosarcoma treated with neoadjuvant chemotherapy
Authors: Hattinger Claudia Maria , Michelacci Francesca , Sella Federica , Magagnoli Giovanna , Benini Stefania , Gambarotti Marco , Palmerini Emanuela , Picci Piero , Serra Massimo , Ferrari Stefano 
Published: January 2015

AimsTo evaluate the clinical impact of excision repair cross‐complementation group 1 (ERCC1) expression in high‐grade osteosarcoma (OS).Methods and resultsImmunohistochemistry was performed on biopsies from 99 OS patients enrolled in the ISG/OS‐Oss training set or ISG/SSG1 validation set neoadjuvant chemotherapy protocols, based on the use of cisplatin, adriamycin, methotrexate, and ifosfamide. In the training set, ERCC1 positivity was found in eight of 31 (26%) patients, and was significantly associated with worse event‐free survival (EFS) (P = 0.042) and overall survival (OVS) (P = 0.001). In the validation set, ERCC1 positivity was found in 22 of 68 (32%) patients, and its significant associations with poorer EFS (P = 0.028) and OVS (P = 0.022) were confirmed. Multivariate analyses performed on the whole patient series indicated that ERCC1 positivity was the only marker that was significantly associated with a higher risk of worse prognosis, in terms of both EFS and OVS (P = 0.013). Co‐evaluation of ERCC1 and ABCB1 expression showed that patients who were positive for both markers had a significantly worse prognosis.ConclusionsThe ERCC1 level at diagnosis is predictive for the outcome of patients with non‐metastatic, high‐grade OS treated with neoadjuvant chemotherapy, and co‐evaluation with ABCB1 can identify high‐risk groups of OS patients who are refractory to standard regimens.
Tear functions in patients with vitiligo
Authors: Güngör Şule , Nurözler Ayşe , Akbay Gülfer , Ekşioğlu Meral 
Published: January 2015

AbstractBackgroundVitiligo is a common, acquired, pigmentary disorder characterized by the loss of melanocytes. In this study, we evaluated the ophthalmalogic abnomalies of patients with vitiligo with regard to tear functions.MethodsThe patients and control subjects underwent examinations via the Schirmer's test, tear film break‐up time (BUT), and Rose Bengal staining.ResultsSchirmer test values in patients with vitiligo were lower than those in the control subjects, but the differences were not statistically significant (P = 0.200). In addition, the BUT values of patients with vitiligo were also significantly lower (P < 0.001), and the Rose Bengal scores of patients with vitiligo were significantly higher (P < 0.001) than the scores of the control subjects. When comparing only the vitiligo subgroups, the Schirmer test scores and BUT values of patients with acrofacial vitiligo were significantly lower than those of patients with generalized vitiligo (P = 0.001). Furthermore, the Rose Bengal scores of patients with acrofacial vitiligo were significantly higher than the scores of patients in the generalized subgroup (P = 0.011).ConclusionThis study revealed that there is a decrease in tear production in patients with vitiligo, particularly in those with the acrofacial type of vitiligo.
The role of vitamin D in psoriasis: a review
Authors: Soleymani Teo , Hung Tracy , Soung Jennifer 
Published: January 2015

AbstractBackground and objectivePsoriasis is a common, chronic autoimmune inflammatory skin disorder, which has potential systemic complications and is clinically defined by sharply demarcated, erythematous patches and plaques covered by a characteristic silvery white scale. Topical corticosteroids have widely been regarded as the mainstay first line of treatment. Recently, topical vitamin D analogs have been added to the first‐line treatment repertoire as well, either as monotherapy or in combination with topical steroids due to synergistic, complementary effectiveness. In this paper, we review the role of vitamin D in the pathophysiology and treatment of psoriasis.MethodsA comprehensive search of the Cochrane Library, MEDLINE, and PUBMED databases were performed to identify relevant basic science and clinical trial literature investigating the role of vitamin D in psoriasis. Primary endpoints in clinical trials were largely based on clinical improvement as assessed by the psoriasis area severity index score or physician's global assessment.Results and conclusionThe role of vitamin D in psoriasis is complex and extensive. Oral and topical vitamin D therapies provide comparable efficacies to corticosteroids when used as monotherapy and may be superior when used in combination with a potent topical steroid. Additionally topical vitamin D analogs demonstrate a favorable safety profile with “steroid‐sparing” effects. Thus, topical vitamin D derivatives should be considered an indispensable component of the current physician's arsenal in the treatment of psoriasis.