bluuebunny/crossref_metadata_2025_split huggingface dataset:
Role of vitamin D receptor gene polymorphisms in aplastic anemia: a case–control study from China
Authors: Yu W. , Ge M. , Shi J. , Li X. , Zhang J. , Wang M. , Shao Y. , Zheng Y. 
Published: March 2016

SummaryIntroductionVitamin D receptor (VDR) gene and its polymorphisms are highlighted as candidate components for susceptibility to various autoimmune diseases. The aim of this study was to investigate the role ofVDRpolymorphisms (rs2228570, rs1544410, rs7975232, and rs731236) in aplastic anemia (AA).MethodsIn this case–control study, the genotyping ofVDRrs1544410 (c.1024 + 283G>A), rs7975232 (c.1025‐49G>T), and rs731236 (c.1056T>C) polymorphisms was conducted using polymerase chain reaction (PCR)–ligase detection reaction, while the genotyping of rs2228570 (c.2T>C) was detected byPCR–restriction fragment length polymorphism.ResultsThe frequencies ofGGgenotype and G allele of rs1544410 were significantly higher in patients withAAthan in controls. Further analysis indicated that rs1544410 and rs7975232 polymorphisms were correlated with the risk to nonsevereAA, while rs2228570 was relevant to severeAA. Moreover,TTcarriers of rs2228570 were closely associated with a poor response to treatment and a higher risk of myelodysplastic syndrome/acute leukemia transformation, whileCTcarriers more easily evolved to overt paroxysmal nocturnal hemoglobinuria.ConclusionsVDRpolymorphisms may contribute to susceptibility toAAand influence the severity and prognosis ofAAin a Chinese population.
Validation of a molecular diagnostic assay for CALR exon 9 indels in myeloproliferative neoplasms: identification of coexisting JAK2 and CALR mutations and a novel 9 bp deletion in CALR
Authors: Murugesan G. , Guenther‐Johnson J. , Mularo F. , Cook J. R. , Daly T. M. 
Published: March 2016

SummaryIntroductionThe 2008 WHO criteria for the diagnosis and classification of myeloproliferative neoplasms (MPN) rely in part upon the assessment of mutations in JAK2 and MPL genes. Recently, mutations in calreticulin (CALR) have been identified in MPN lacking JAK2 and MPL mutations. We have validated a sensitive fragment analysis assay to detect CALR mutations.MethodsGenomic DNA from peripheral blood, bone marrow, and FFPE bone marrow clot preparations from 52 MPN specimens with known JAK2 and MPL mutation status and 29 non‐MPN specimens was analyzed. CALR mutation testing was performed by fragment length analysis, and the results were confirmed by sequencing. Accuracy, precision, sensitivity, specificity, and robustness of the assay were determined.ResultsForty specimens (32 JAK2+, 2 JAK2‐/MPL+, and 6 JAK2‐/MPL‐) were negative for CALR mutations. Twelve specimens had CALR mutations including 52 bp deletion (5), 5 bp insertion (6), and a novel 9 bp deletion (1). This 9 bp inframe deletion occurring at an allelic burden of 50% would delete three amino acids. One specimen with a 52 bp deletion also had JAK2 V617F mutation. All 29 non‐MPN specimens were negative for CALR mutations. The assay accurately identified the mutation status of all 52 MPN specimens and had a coefficient of variation <3% for the fragment size and mutant peaks with a sensitivity of 5% for indels.ConclusionsFragment analysis is an accurate and sensitive method for the detection of CALR indels. The novel 9 bp deletion is likely a germline variant. Consequence of coexisting JAK2 V617F and CALR mutations requires careful interpretation.
Enzalutamide in Japanese patients with chemotherapy‐naïve, metastatic castration‐resistant prostate cancer: A post‐hoc analysis of the placebo‐controlled PREVAIL trial
Authors: Kimura Go , Yonese Junji , Fukagai Takashi , Kamba Tomomi , Nishimura Kazuo , Nozawa Masahiro , Mansbach Hank , Theeuwes Ad , Beer Tomasz M , Tombal Bertrand , Ueda Takeshi 
Published: March 2016

ObjectivesTo evaluate the treatment effects, safety and pharmacokinetics of enzalutamide in Japanese patients.MethodsThis was a post‐hoc analysis of the phase 3, double‐blind, placebo‐controlled PREVAIL trial. Asymptomatic or mildly symptomatic chemotherapy‐naïve patients with metastatic castration‐resistant prostate cancer progressing on androgen deprivation therapy were randomized one‐to‐one to 160 mg/day oral enzalutamide or placebo until discontinuation on radiographic progression or skeletal‐related event and initiation of subsequent antineoplastic therapy. Coprimary end‐points were centrally assessed radiographic progression‐free survival and overall survival. Secondary end‐points were investigator‐assessed radiographic progression‐free survival, time to initiation of chemotherapy, time to prostate‐specific antigen progression, prostate‐specific antigen response (≥50% decline) and time to skeletal‐related event.ResultsOf 1717 patients, 61 were enrolled in Japan (enzalutamide, n = 28; placebo, n = 33); hazard ratios (95% confidence interval) of 0.30 for centrally assessed radiographic progression‐free survival (0.03–2.95), 0.59 for overall survival (0.20–1.8), 0.46 for time to chemotherapy (0.22–0.96) and 0.36 for time to prostate‐specific antigen progression (0.17–0.75) showed the treatment benefit of enzalutamide over the placebo. Prostate‐specific antigen responses were observed in 60.7% of enzalutamide‐treated men versus 21.2% of placebo‐treated men. Plasma concentrations of enzalutamide were higher in Japanese patients: the geometric mean ratio of Japanese/non‐Japanese patients was 1.126 (90% confidence interval 1.018–1.245) at 13 weeks. Treatment‐related adverse events grade ≥3 occurred in 3.6% of enzalutamide‐ and 6.1% of placebo‐treated Japanese patients.ConclusionTreatment effects and safety in Japanese patients were generally consistent with the overall results from PREVAIL.
Cardiovascular Outcomes According to Systolic Blood Pressure in Patients With and Without Diabetes: An ACCOMPLISH Substudy
Authors: Weber Michael A. , Bloch Michael , Bakris George L. , Weir Matthew R. , Zappe Dion H. , Dahlof Bjorn , Velazquez Eric J. , Pitt Bertram , Basile Jan N. , Jamerson Kenneth , Hua Tsushung A. 
Published: March 2016

To evaluate the effects of achieved systolic blood pressure (SBP) during treatment on cardiovascular (CV) outcomes, the authors measured event rates of a composite primary endpoint (CV death or nonfatal myocardial infarction or stroke) at on‐treatment SBPs of ≥140 mm Hg and the 10 mm Hg intervals of <140 mm Hg, <130 mm Hg, and <120 mm Hg in 6459 patients with diabetes (mean age, 67) and 4246 patients without diabetes (mean age, 69) from the Avoiding Cardiovascular Events in Combination Therapy in Patients Living With Systolic Hypertension (ACCOMPLISH) trial. In the diabetic cohort, the primary endpoint was 49% lower (P<.001) at <140 mm Hg than at ≥140 mm Hg, and the separate components of this endpoint were also significantly reduced. Further SBP reductions did not improve outcomes, and at <120 mm Hg they were no longer different (except for stroke) from ≥140 mm Hg. In contrast, in the nondiabetic cohort, the primary endpoint event rate fell steadily (although not significantly) through the decreasing SBP categories until it was reduced by 45% (P=.0413) at <120 mm Hg. Total stroke rates for both the diabetic (−56%, P=.0120) and nondiabetic (−68%, P=.0067) cohorts were lowest at <120 mm Hg, and adverse renal events (serum creatinine increase ≥50%) were significantly lowest in the range of 130 mm Hg to 139 mm Hg for both cohorts. Diabetic patients (<140 mm Hg or <130 mm Hg) and nondiabetic patients (<120 mm Hg) may require different SBP targets for optimal CV protection, although stroke and renal considerations should also influence the selection of blood pressure targets.
Association of potentially functional variants in the XPG gene with neuroblastoma risk in a Chinese population
Authors: He Jing , Wang Fenghua , Zhu Jinhong , Zhang Ruizhong , Yang Tianyou , Zou Yan , Xia Huimin 
Published: March 2016

AbstractXPG gene plays a critical role in the nucleotide excision repair pathway. However, the association between XPG gene polymorphisms and neuroblastoma risk has not been investigated. In this study with 256 neuroblastoma cases and 531 cancer‐free controls, we investigated the effects of five potentially functional polymorphisms (rs2094258 C>T, rs751402 C>T, rs2296147 T>C, rs1047768 T>C and rs873601G>A) on neuroblastoma risk. We calculated odds ratio (OR) and 95% confidence interval (CI) to evaluate the association between the five selected polymorphisms and neuroblastoma risk. False‐positive report probability (FPRP) was utilized to determine whether significant findings were noteworthy or because of a chance. We also performed genotype–phenotype association analysis to explore the biological plausibility of our findings. We found that the rs2094258 T allele was significantly associated with decreased neuroblastoma risk (CT versus CC: adjusted OR = 0.65, 95% CI = 0.47–0.90, P = 0.010; and CT/TT versus CC: adjusted OR = 0.71, 95% CI = 0.53–0.97, P = 0.030) after adjusting for age and gender. The association was more prominent for subjects with retroperitoneal tumour or early‐stage tumour. We also found that carriers of the 2–3 risk genotypes had a significantly increased neuroblastoma risk when compared to carriers of the 0–1 risk genotypes. The association with risk genotypes was more predominant in older children, females and subjects with retroperitoneal tumour or early stage. Our results were further supported by FPRP analysis and genotype–phenotype association analysis. In conclusion, our study verified that the XPG gene rs2094258 C>T polymorphism may contribute to neuroblastoma susceptibility. Our findings require further validation by studies with larger sample size and concerning different ethnicities.
Rapid evolution of antioxidant defence in a natural population of Daphnia magna
Authors: Oexle S. , Jansen M. , Pauwels K. , Sommaruga R. , De Meester L. , Stoks R. 
Published: March 2016

AbstractNatural populations can cope with rapid changes in stressors by relying on sets of physiological defence mechanisms. Little is known onto what extent these physiological responses reflect plasticity and/or genetic adaptation, evolve in the same direction and result in an increased defence ability. Using resurrection ecology, we studied how a natural Daphnia magna population adjusted its antioxidant defence to ultraviolet radiation (UVR) during a period with increasing incident UVR reaching the water surface. We demonstrate a rapid evolution of the induction patterns of key antioxidant enzymes under UVR exposure in the laboratory. Notably, evolutionary changes strongly differed among enzymes and mainly involved the evolution of UV‐induced plasticity. Whereas D. magna evolved a strong plastic up‐regulation of glutathione peroxidase under UVR, it evolved a lower plastic up‐regulation of glutathione S‐transferase and superoxide dismutase and a plastic down‐regulation of catalase. The differentially evolved antioxidant strategies were collectively equally effective in dealing with oxidative stress because they resulted in the same high levels of oxidative damage (to lipids, proteins and DNA) and lowered fitness (intrinsic growth rate) under UVR exposure. The lack of better protection against UVR may suggest that the UVR exposure did not increase between both periods. Predator‐induced evolution to migrate to lower depths that occurred during the same period may have contributed to the evolved defence strategy. Our results highlight the need for a multiple trait approach when focusing on the evolution of defence mechanisms.
Mode‐synthesizing atomic force microscopy for volume characterization of mixed metal nanoparticles
Authors: VITRY P. , BOURILLOT E. , TÉTARD L. , PLASSARD C. , LACROUTE Y. , LESNIEWSKA E. 
Published: March 2016

SummaryAtomic force microscopy (AFM) and other techniques derived from AFM have revolutionized the understanding of materials and biology at the nanoscale, but mostly provide surface properties. The observation of subsurface nanoscale features and properties remains a great challenge in nanometrology. The operating principle of the mode‐synthesizing AFM (MSAFM) is based on the interaction of two ultrasonic waves, one launched by the AFM probe fp, a second launched by the sample fs, and their resulting nonlinear frequency mixing. Recent developments highlighted the need for quantitative correlation between the role of the frequency actuation of the probe fp and the sample fs. Here we present the great potential of MSAFM for advanced volume characterization of metallic nanoparticles presenting a multilayered structure composed of a nickel core surrounded by a gold envelope.
Transmission electron microscopy of mercury metal
Authors: ANJUM DALAVER H. , SOUGRAT RACHID 
Published: March 2016

SummaryTransmission electron microcopy (TEM) analysis of liquid metals, especially mercury (Hg), is difficult to carry out because their specimen preparation poses a daunting task due to the unique surface properties of these metals. This paper reports a cryoTEM study on Hg using a novel specimen preparation technique. Hg metal is mixed with water using sonication and quenched in liquid ethane cryogen. This technique permits research into the morphological, phase and structural properties of Hg at nanoscale dimensions.
Non‐rigid alignment in electron tomography in materials science
Authors: PRINTEMPS TONY , BERNIER NICOLAS , BLEUET PIERRE , MULA GUIDO , HERVÉ LIONEL 
Published: March 2016

SummaryElectron tomography is a key technique that enables the visualization of an object in three dimensions with a resolution of about a nanometre. High‐quality 3D reconstruction is possible thanks to the latest compressed sensing algorithms and/or better alignment and preprocessing of the 2D projections. Rigid alignment of 2D projections is routine in electron tomography. However, it cannot correct misalignments induced by (i) deformations of the sample due to radiation damage or (ii) drifting of the sample during the acquisition of an image in scanning transmission electron microscope mode. In both cases, those misalignments can give rise to artefacts in the reconstruction. We propose a simple‐to‐implement non‐rigid alignment technique to correct those artefacts. This technique is particularly suited for needle‐shaped samples in materials science. It is initiated by a rigid alignment of the projections and it is then followed by several rigid alignments of different parts of the projections. Piecewise linear deformations are applied to each projection to force them to simultaneously satisfy the rigid alignments of the different parts. The efficiency of this technique is demonstrated on three samples, an intermetallic sample with deformation misalignments due to a high electron dose typical to spectroscopic electron tomography, a porous silicon sample with an extremely thin end particularly sensitive to electron beam and another porous silicon sample that was drifting during image acquisitions.
Relation between periodontal disease and arterial stiffness
Authors: Nicolosi L. N. , Lewin P. G. , Rudzinski J. J. , Pompeo M. , Guanca F. , Rodríguez P. , Gelpi R. J. , Rubio M. C. 
Published: March 2016

Background and ObjectivePeriodontal disease has been described as playing a role in the atherosclerosis process, and its relation with intimal thickness and vascular endothelial function (EF) has been investigated. The present study sought to determine whether there are differences in parameters of arterial stiffness and EF between patients with and without severe periodontal disease (SPD).Material and MethodsPatients referred to the School of Dentistry University of Buenos Aires, were assessed. Demographic characteristics, atherogenic risk factors and concomitant pathologies were recorded. Patients with known cardiovascular pathology were excluded. Using carotid Doppler ultrasound an operator assessed arterial stiffness parameters: compliance, elastic modulus (EM), β stiffness index (βSI) and vascular EF by brachial artery flow‐mediated dilatation. The patients were divided into two groups: with and without SPD.ResultsForty patients were included; 60% were women; 15 were in the SPD group and 25 in the group without SPD. Respective results of the studied variables were: age 56.53 ± 17.58 vs. 51.12 ± 12.97 years (NS); probing depth 2.53 ± 1.30 (95% CI 1.81–3.25) vs. 1.25 ± 0.51 (95% CI 1.31–1.73) p = 0.02; clinical attachment level 4.80 ± 2.00 (95% CI 3.69–5.91) vs. 1.72 ± 0.93 (95% CI 1.33–2.11) p = 0.001; intimal thickness 0.10 ± 0.17 (95% CI 0.095–0.11) vs. 0.82 ± 0.18 (95% CI 0.074–0.98) (NS); EM 48.33 ± 12.53 vs. 38.86 ± 7.69 (p = 0.005); βSI 4.21 ± 1.03 vs. 3.64 ± 1.02 (p = 0.004); EF 16.13 ± 5.02 vs. 22.76 ± 4.50 (p = 0.0003). Correlation between: EM and clinical attachment level r = 0.58 (p < 0.001), βSI and clinical attachment level r = 0.66 (p < 0.001), EF and clinical attachment level 0.59 (p < 0.001).ConclusionsParameters of arterial stiffness and EF were worse in patients with SPD and correlated moderately with clinical attachment level. Correlation with compliance and EF was negative.
Urothelial Dysfunction and Chronic Inflammation in Diabetic Patients with Overactive Bladder
Authors: WANG Chung‐Cheng , KUO Hann‐Chorng 
Published: March 2016

ObjectivesTo investigate urothelial dysfunction, suburothelial inflammation, and muscarinic receptor expression in diabetic patients with overactive bladder (OAB).MethodsA total 19 patients with OAB and diabetes mellitus (DM), 14 OAB patients without DM, and 10 healthy control subjects were enrolled in the study. Immunofluorescence staining of E‐cadherin, zonula occludens‐1 (ZO‐1), tryptase (mast cell activation), and apoptosis tests on the bladder urothelium and suburothelium were performed. Tissue muscarinic receptor M2, M3, and purinergic receptor P2X3 levels were measured by Western blotting. Video urodynamic studies were analyzed in relation to immunofluorescence and western blotting results.ResultsThe mean age of the controls, OAB patients without and with DM were comparable (62.9 ± 6.9, 58.4 ± 21.3, and 68.9 ± 11.3 years, respectively, P = 0.25). E‐cadherin and mast cell expression in the bladder urothelium samples of the DM‐OAB group and the OAB group without DM differed significantly from those of the control group (all P < 0.05). However, immunofluorescence analyses including E‐cadherin, mast cells, apoptotic cell counts, and ZO‐1 were comparable between OAB patients with and without DM. In addition, M3 muscarinic protein expression in the bladders of OAB patients with and without DM was significantly higher than that in the control subjects. The video urodynamic parameters did not correlate with the immunofluorescence data, M2 and M3 muscarinic receptor data, or P2X3 protein expression.ConclusionUrothelial dysfunction and chronic suburothelial inflammation may contribute to the pathogeneses of OAB. However, DM does not aggravate the severity of urothelial inflammation in OAB patients.
Factors influencing older people′s experiences of participation in autonomous decisions concerning their daily care in their own homes: a review of the literature
Authors: Fjordside Solveig , Morville Annette 
Published: March 2016

AimTo review the literature on how older people perceive opportunities and limitations with regard to participation in autonomous decisions concerning their daily care in their own homes.BackgroundThe perception of personal control plays a critical role in an older person's health and well‐being. Little is known about factors that facilitate or hinder older people′s autonomous decision‐making in their own homes.MethodsThe study has been carried out as a literature review. The following databases were used: CINAHL, PubMed, PsykInfo, Cochrane, SweMed, Embase. Research studies range from 2009 to 2014.ResultsThe review includes 12 publications. Four core themes are generated: older person's autonomy in their own home; autonomy and relationship; the balance between autonomy and dependency; older people′s autonomy and the organisation of home care.ConclusionOlder people have a strong inner drive to maintain autonomy in their own home. The autonomy is challenged when the person becomes increasingly dependent on help. The relationship with carers is of vital importance with regard to the person's ability to make autonomous decisions. The organisation of home care restricts older people′ scope for autonomy.Implications for practiceOlder people′s own perspectives on autonomous decisions can contribute to the ongoing debate about how nursing care can be developed with respect to their autonomy. Nursing care demands attention to an older person′s desire for autonomy despite dependency. A framework for systematic ethical discussions among carers may improve awareness about factors that facilitate or hinder good personalised care. The organisation of nursing care needs to be shaped in line with best practice for older people.
Matrix effect on baked egg tolerance in children with IgE‐mediated hen's egg allergy
Authors: Miceli Sopo Stefano , Greco Monica , Cuomo Barbara , Bianchi Annamaria , Liotti Lucia , Monaco Serena , Dello Iacono Iride 
Published: March 2016

AbstractBackgroundChildren with IgE‐mediated hen's egg allergy (IgE‐HEA) often tolerate baked egg within a wheat matrix.ObjectiveTo evaluate the influence of wheat matrix and the effects of little standardized cooking procedures on baked egg tolerance.MethodsFifty‐four children with IgE‐HEA were enrolled. They underwent prick‐by‐prick (PbP) tests and open oral food challenges (OFC) performed with baked HE within a wheat matrix (a home‐made cake, locally called ciambellone), baked HE without a wheat matrix (in the form of an omelet, locally named frittata) and boiled HE. Three months after passing ciambellone OFC, parents were asked to answer a survey.ResultsAbout 88% of children tolerated ciambellone, 74% frittata, and 56% boiled HE. Negative predictive value of PbP performed with ciambellone, frittata, and boiled HE was 100%. No IgE‐mediated adverse reactions were detected at follow‐up carried out by the survey.ConclusionsWheat matrix seemed to be relevant only in few cases. If our results will be confirmed by larger studies, a negative PbP with ciambellone, frittata, or boiled HE will allow patients with IgE‐HEA to eat these foods without undergoing OFC. Moreover, our study showed that very strict standardized cooking procedures do not seem to be essential, to guarantee tolerance toward baked HE.
Sepsis and multi‐organ dysfunction associated with postgrooming furunculosis in a dog
Authors: Pipe‐Martin Hannah N. , Peterson Tiffany A. , Langohr Ingeborg M. , Lane Martha , Fletcher Jon M. , Gaschen Frederic , Pucheu‐Haston Cherie M. 
Published: March 2016

BackgroundPostgrooming furunculosis, as previously described in the dog, is a type of pyoderma that typically responds to routine antimicrobial therapy. Systemic clinical signs are common but are usually mild.AnimalA 3‐year‐old spayed female great dane was presented with marked dorsal furunculosis of 24 h duration. The clinical signs and blood analyses were consistent with sepsis, systemic inflammatory response syndrome and disseminated intravascular coagulopathy (DIC).Methods and resultsSkin culture revealed multi‐drug resistant Pseudomonas aeruginosa infection. The dog did not respond to aggressive medical therapy including intravenous antibiotic therapy, fresh frozen plasma and haemodynamic support, and was humanely euthanized. Postmortem findings were consistent with postgrooming furunculosis with associated sepsis and DIC affecting multiple organs including the lungs and brain.Conclusions and clinical importancePostgrooming furunculosis can progress to sepsis and multiple organ dysfunction in the dog and can lead to death.