bluuebunny/crossref_metadata_2025_split huggingface dataset:
1q25.2-q31.3 Deletion in a female with mental retardation, clinodactyly, minor facial anomalies but no growth retardation
Authors: Hu Ping , Wang Yan , Meng Lu-lu , Qin Ling , Ma Ding-yuan , Yi Long , Xu Zheng-feng 
Published: August 2013

Abstract
The reports of 1q25-32 deletion cases are rare. We reported here an 11-year-old Chinese Han female with an interstitial 1q25 deletion displaying mental retardation, clinodactyly of the 5th finger and minor facial anomalies. Notably, the patient did not present growth retardation which is quite common in patients with 1q25-32 deletion encompassing LHX4. The heterozygous deletion in this patient was characterized as 46,XX,del(1)(q25.2-q31.3) with a length of 20.5 Mb according to SNP-array test results. STRP (Short Tandem Repeat Polymorphism) analysis of the family trio indicated the genomic abnormality was de novo with paternal origin. After a genotype-phenotype analysis, we proposed here the loss of a 3.1 Mb critical region including 24 genes within 1q25.2 (chr1:174.5-177.6 Mb, build 36) may account for the mental retardation in patients with 1q25-32 deletion.
Identification and systematic annotation of tissue-specific differentially methylated regions using the Illumina 450k array
Authors: Slieker Roderick C , Bos Steffan D , Goeman Jelle J , Bovée Judith VMG , Talens Rudolf P , van der Breggen Ruud , Suchiman H Eka D , Lameijer Eric-Wubbo , Putter Hein , van den Akker Erik B , Zhang Yanju , Jukema J Wouter , Slagboom P Eline , Meulenbelt Ingrid , Heijmans Bastiaan T 
Published: August 2013

Abstract

Background
DNA methylation has been recognized as a key mechanism in cell differentiation. Various studies have compared tissues to characterize epigenetically regulated genomic regions, but due to differences in study design and focus there still is no consensus as to the annotation of genomic regions predominantly involved in tissue-specific methylation. We used a new algorithm to identify and annotate tissue-specific differentially methylated regions (tDMRs) from Illumina 450k chip data for four peripheral tissues (blood, saliva, buccal swabs and hair follicles) and six internal tissues (liver, muscle, pancreas, subcutaneous fat, omentum and spleen with matched blood samples).

Results
The majority of tDMRs, in both relative and absolute terms, occurred in CpG-poor regions. Further analysis revealed that these regions were associated with alternative transcription events (alternative first exons, mutually exclusive exons and cassette exons). Only a minority of tDMRs mapped to gene-body CpG islands (13%) or CpG islands shores (25%) suggesting a less prominent role for these regions than indicated previously. Implementation of ENCODE annotations showed enrichment of tDMRs in DNase hypersensitive sites and transcription factor binding sites. Despite the predominance of tissue differences, inter-individual differences in DNA methylation in internal tissues were correlated with those for blood for a subset of CpG sites in a locus- and tissue-specific manner.

Conclusions
We conclude that tDMRs preferentially occur in CpG-poor regions and are associated with alternative transcription. Furthermore, our data suggest the utility of creating an atlas cataloguing variably methylated regions in internal tissues that correlate to DNA methylation measured in easy accessible peripheral tissues.
Behavioral profile of adults with Prader-Willi syndrome: correlations with individual and environmental variables
Authors: Jauregi Joseba , Laurier Virginie , Copet Pierre , Tauber Maithé , Thuilleaux Denise 
Published: August 2013

AbstractBackgroundMaladaptive behavior has been reported as a phenotypical feature in Prader–Willi syndrome (PWS). It severely limits social adaptation and the quality of life of children and adults with the syndrome. Different factors have been linked with the intensity and form of these behavioral disturbances but there is no consensus about the cause. Consequently, there is still controversy regarding management strategies and there is a need for new data.MethodsThe behavior of 100 adults with PWS attending a dedicated center was assessed using the Developmental Behavior Checklist for Adults (DBC-A) and the PWS-specific Hyperphagia Questionnaire. The DBC-A was completed separately by trained caregivers at the center and relatives or caregivers in a natural setting. Genotype, gender, age, degree of obesity and cognitive impairment were analyzed as variables with a hypothetical influence on behavioral features.ResultsPatients showed a relatively high rate of behavioral disturbances other than hyperphagia. Disruptive and social relating were the highest scoring DBC-A subscales whereas anxiety/antisocial and self-absorbed were the lowest. When hospital caregiver and natural caregiver scores were compared, scores for the latter were higher for all subscales except for disruptive and anxiety/antisocial. These effects of institutional management were underlined. In the DBC-A, 22 items have descriptive indications of PWS behavior and were used for further comparisons and correlation analysis. In contrast to previous reports, rates of disturbed behavior were lower in patients with a deletion genotype. However, the behavioral profile was similar for both genotypes. No differences were found in any measurement when comparing type I and type II deletions. The other analyzed variables showed little relevance.ConclusionsSignificant rates of behavioral disorders were highlighted and their typology described in a large cohort of adults with PWS. The deletion genotype was related to a lower severity of symptoms. Some major behavioral problems, such as hyperphagia, may be well controlled if living circumstances are adapted to the specific requirements of individuals with PWS.
Production of ethanol from hemicellulose fraction of cocksfoot grass using pichia stipitis
Authors: Njoku Stephen Ikechukwu , Iversen Jens Asmus , Uellendahl Hinrich , Ahring Birgitte Kiær 
Published: August 2013

Abstract

Background
In this study, cocksfoot grass (Dactylis glomerata), an abundant lignocellulosic biomass was pretreated using different operational parameters using wet explosion (WEx) pretreatment for accessing the bioethanol potential of the hemicellulose fraction. Utilization of the hemicellulose liquid hydrolysate to ethanol is essential for economically feasible cellulosic ethanol processes. Fermentation of the separated hemicellulose liquid hydrolysates obtained after the WEx pretreatment was done by Pichia stipitis CBS 6054 (Scheffersomyces stipitis).

Results
The fermentation of the WEx liquid hydrolysate from the pretreatment at higher severity (180°C, 15 min, 87 psi oxygen and 190°C, 15 min, 0.2% sulfuric acid) was fully inhibited probable by the presence of higher concentrations of inhibitory compounds such as furfural, HMF and acetic acid. The ethanol yield among other WEx conditions was in the range of 89 to 158 mL/kg DM, with the highest yield (92% of theoretical maximum value) found for the lower pretreatment severity at 160°C, 15 min, 87 psi oxygen.

Conclusions
Our findings from this present study demonstrated that the release of hemicellulose sugars in the liquid hydrolysate is maximal when a lower pretreatment severity is applied. This is evident as the highest ethanol yields were found under the pretreatment conditions at lower severity.
Routine use of Staphylococcus aureus rapid diagnostic test in patients with suspected ventilator-associated pneumonia
Authors: Leone Marc , Malavieille François , Papazian Laurent , Meyssignac Bertrand , Cassir Nadim , Textoris Julien , Antonini François , La Scola Bernard , Martin Claude , Allaouchiche Bernard , Hraiech Sami ,   for the AzuRea Network
Published: August 2013

Abstract
Introduction
In patients with ventilator-associated pneumonia (VAP), administration of an appropriate empirical antimicrobial treatment is associated with improved outcomes, leading to the prescription of broad-spectrum antibiotics, including a drug active against methicillin resistant Staphylococcus aureus (MRSA). In order to avoid the overuse of antibiotics, the present study aimed to evaluate the technical characteristics of a rapid diagnostic test (Cepheid Xpert assay) in patients with suspected VAP.

Methods
From June 2011 to June 2012, in patients with suspected VAP, a sample from the bronchialalveolar lavage (BAL) or miniBAL was tested in a point-of-care laboratory for a rapid diagnostic test of methicillin susceptible Staphylococcus aureus (MSSA) and MRSA. Then, the result was compared to the quantitative culture with a threshold at 104 colony-forming units per milliliter for bronchoalveolar lavage and 103 colony-forming units per milliliter for minibronchoalveolar lavage. The study was performed in three intensive care units at two institutions.

Results
Four hundred, twenty-two samples from 328 patients were analyzed. The culture of 6 (1.1%) and 28 (6.5%) samples were positive for MRSA and MSSA. The test was not interpretable in 41 (9.3%) patients. The negative predictive values of the rapid detection test were 99.7% (98.1 to 99.9%) and 99.8% (98.7 to 99.9%) for MSSA and MRSA, respectively.

Conclusion
The rapid diagnostic test is reliable in excluding the presence of MSSA and MRSA in the samples of patients with suspected VAP. Its utility should be regarded depending on the prevalence of MRSA.
Second Allograft for Hematologic Relapse of Acute Leukemia After First Allogeneic Stem-Cell Transplantation From Related and Unrelated Donors: The Role of Donor Change
Authors: Christopeit Maximilian , Kuss Oliver , Finke Jürgen , Bacher Ulrike , Beelen Dietrich Wilhelm , Bornhäuser Martin , Schwerdtfeger Rainer , Bethge Wolfgang Andreas , Basara Nadezda , Gramatzki Martin , Tischer Johanna , Kolb Hans-Jochem , Uharek Lutz , Meyer Ralf G. , Bunjes Donald , Scheid Christof , Martin Hans , Niederwieser Dietger , Kröger Nicolaus , Bertz Hartmut , Schrezenmeier Hubert , Schmid Christoph 
Published: August 2013

PurposeTo evaluate the role of a second allogeneic hematopoietic stem-cell transplantation (HSCT2) given for relapsed acute leukemia (AL) after related or unrelated first hematopoietic stem-cell transplantation (HSCT1) and to analyze the role of donor change for HSCT2 in both settings.Patients and MethodsWe performed a retrospective registry study on 179 HSCT2s given for relapse after HSCT1 from matched related donors (n = 75) or unrelated donors (n = 104), using identical or alternative donors for HSCT2. Separate analyses were performed according to donor at HSCT1.ResultsIndependent of donor, 74% of patients achieved complete remission after HSCT2, and half of these patients experienced relapse again. Overall survival (OS) at 2 years was 25% ± 4% (39% ± 7% after related HSCT2; 19% ± 4% after unrelated HSCT2). Long-term survivors were observed even after two unrelated HSCT2s. Multivariate analysis for OS from HSCT2 confirmed established risk factors (remission duration after HSCT1: hazard ratio [HR], 2.37; 95% CI, 1.61 to 3.46; P < .001; stage at HSCT2: HR, 0.53; 95% CI, 0.34 to 0.83; P = .006). Outcome of HSCT2 was better after related HSCT1 than after unrelated HSCT1 (2-year OS: 37% ± 6% v 16% ± 4%, respectively; HR, 0.68; 95% CI, 0.47 to 0.98; P = .042, multivariate Cox regression). After both related and unrelated HSCT1, selecting a new donor for HSCT2 did not result in a relevant improvement in OS compared with HSCT2 from the original donor; however, donor change was not detrimental either.ConclusionAfter relapse from allogeneic HSCT1, HSCT2 can induce 2-year OS in approximately 25% of patients. Unrelated HSCT2 is feasible after related and unrelated HSCT1. Donor change for HSCT2 is a valid option. However, a clear advantage in terms of OS could not be demonstrated.
Randomized Controlled Trial of Mindfulness-Based Cancer Recovery Versus Supportive Expressive Group Therapy for Distressed Survivors of Breast Cancer (MINDSET)
Authors: Carlson Linda E. , Doll Richard , Stephen Joanne , Faris Peter , Tamagawa Rie , Drysdale Elaine , Speca Michael 
Published: August 2013

PurposeTo compare the efficacy of the following two empirically supported group interventions to help distressed survivors of breast cancer cope: mindfulness-based cancer recovery (MBCR) and supportive-expressive group therapy (SET).Patients and MethodsThis multisite, randomized controlled trial assigned 271 distressed survivors of stage I to III breast cancer to MBCR, SET, or a 1-day stress management control condition. MBCR focused on training in mindfulness meditation and gentle yoga, whereas SET focused on emotional expression and group support. Both intervention groups included 18 hours of professional contact. Measures were collected at baseline and after intervention by assessors blind to study condition. Primary outcome measures were mood and diurnal salivary cortisol slopes. Secondary outcomes were stress symptoms, quality of life, and social support.ResultsUsing linear mixed-effects models, in intent-to-treat analyses, cortisol slopes were maintained over time in both SET (P = .002) and MBCR (P = .011) groups relative to the control group, whose cortisol slopes became flatter. Women in MBCR improved more over time on stress symptoms compared with women in both the SET (P = .009) and control (P = .024) groups. Per-protocol analyses showed greater improvements in the MBCR group in quality of life compared with the control group (P = .005) and in social support compared with the SET group (P = .012).ConclusionIn the largest trial to date, MBCR was superior for improving stress levels, quality of life, and social support for distressed survivors of breast cancer. Both SET and MBCR also resulted in more normative diurnal cortisol profiles than the control condition. The clinical implications of this finding require further investigation.
Phase II Trial (BREAK-2) of the BRAF Inhibitor Dabrafenib (GSK2118436) in Patients With Metastatic Melanoma
Authors: Ascierto Paolo A. , Minor David , Ribas Antoni , Lebbe Celeste , O'Hagan Anne , Arya Niki , Guckert Mary , Schadendorf Dirk , Kefford Richard F. , Grob Jean-Jacques , Hamid Omid , Amaravadi Ravi , Simeone Ester , Wilhelm Tabea , Kim Kevin B. , Long Georgina V. , Martin Anne-Marie , Mazumdar Jolly , Goodman Vicki L. , Trefzer Uwe 
Published: August 2013

Purpose Dabrafenib (GSK2118436) is a potent inhibitor of mutated BRAF kinase. Our multicenter, single-arm, phase II study assessed the safety and clinical activity of dabrafenib in BRAFV600E/K mutation–positive metastatic melanoma (mut+ MM). Patients and Methods Histologically confirmed patients with stage IV BRAFV600E/K mut+ MM received oral dabrafenib 150 mg twice daily until disease progression, death, or unacceptable adverse events (AEs). The primary end point was investigator-assessed overall response rate in BRAFV600E mut+ MM patients. Secondary end points included progression-free survival (PFS) and overall survival (OS). Exploratory objectives included the comparison of BRAF mutation status between tumor-specific circulating cell-free DNA (cfDNA) and tumor tissue, and the evaluation of cfDNA as a predictor of clinical outcome. Results Seventy-six patients with BRAFV600E and 16 patients with BRAFV600K mut+ MM were enrolled onto the study. In the BRAFV600E group, 45 patients (59%) had a confirmed response (95% CI, 48.2 to 70.3), including five patients (7%) with complete responses. Two patients (13%) with BRAFV600K mut+ MM had a confirmed partial response (95% CI, 0 to 28.7). In the BRAFV600E and BRAFV600K groups, median PFS was 6.3 months and 4.5 months, and median OS was 13.1 months and 12.9 months, respectively. The most common AEs were arthralgia (33%), hyperkeratosis (27%), and pyrexia (24%). Overall, 25 patients (27%) experienced a serious AE and nine patients (10%) had squamous cell carcinoma. Baseline cfDNA levels predicted response rate and PFS in BRAFV600E mut+ MM patients. Conclusion Dabrafenib was well tolerated and clinically active in patients with BRAFV600E/K mut+ MM. cfDNA may be a useful prognostic and response marker in future studies.
Dendritic Light-harvesting Antennas with Excitation Energy Gradients
Authors: Kozaki Masatoshi , Suzuki Shuichi , Okada Keiji 
Published: August 2013

Abstract
Dendritic architectures provide attractive scaffolds for the precise arrangement of considerable numbers of antenna chromophores. Multichromophoric antennas are advantageous for obtaining intense absorption over the entire visible light spectrum. The strategic arrangement of various antenna chromophores produces the lowest excitation energy gradient for efficient energy transfer. Large light-harvesting systems can be constructed by the proper arrangement of the antennas.
Formation of Multicultural Competences: European Way of Education Development
Authors: Полушина  , Polushina Lyubov 
Published: August 2013

The mutual understanding and cross-cultural competence are very important today as with their help we can address to the most complex problems of modern society. Manifestation of prejudices, discrimination and aggression has become an everyday occurrence,
and the political parties protecting extremist ideas, have received a new driving force. These problems are connected with social and economic and political inequality and misunderstanding between people of different cultural estates and religions.
Optimal Operation Method of Smart House by Controllable Loads based on Smart Grid Topology
Authors: Yoza Akihiro , Uchida Kosuke , Yona Atsushi , Senju Tomonobu 
Published: August 2013

Abstract
From the perspective of global warming suppression and depletion of energy resources, renewable energy such as wind generation (WG) and photovoltaic generation (PV) are getting attention in distribution systems. Additionally, all electrification apartment house or residence such as DC smart house have increased in recent years. However, due to fluctuating power from renewable energy sources and loads, supply–demand balancing fluctuations of power system become problematic. Therefore, “smart grid” has become very popular in the worldwide. This article presents a methodology for optimal operation of a smart grid to minimize the interconnection point power flow fluctuations. To achieve the proposed optimal operation, we use distributed controllable loads such as battery and heat pump. By minimizing the interconnection point power flow fluctuations, it is possible to reduce the maximum electric power consumption and the electric cost. This system consists of photovoltaics generator, heat pump, battery, solar collector, and load. In order to verify the effectiveness of the proposed system, MATLAB is used in simulations.
Polymers as enhancers of photodynamic activity of chlorin photosensitizers for photodynamic therapy
Authors: Aksenova Nadezhda A. , Zhientaev Timur M. , Brilkina Anna A. , Dubasova Ljubov V. , Ivanov Andrey V. , Timashev Peter S. , Melik-Nubarov Nicolay S. , Solovieva Anna B. 
Published: August 2013

Abstract:The impact of water-soluble and amphiphilic polymers with different structures, namely carboxymethyl cellulose (CMC), polyvinyl alcohol (PVA) and polyvinylpyrrolidone (PVP), was studied on the photoactivity of chlorin photosensitizers (PSs) in photodynamic therapy (PDT). It was shown that such polymers can cause a considerable increase in the PS activity, both in the process of singlet oxygen photogeneration in cell experiments, and in the model reaction of a substrate photooxidation in water. Amongst the studied polymers, CMC and PVP appeared to have the most significant influence on the photoactivity of PSs. The observed effect of the polymers on the photosensitizing activity of PSs can be attributed to the presence of chlorin-polymer interactions resulting in the porphyrin disaggregation in aqueous phase. The effect of the polymers on the photocytotoxicity of PSs is attributed to the absence of interactions between chlorin and polypeptide or lipoproteins which results in a decrease of the photoactivity of chlorins in cell culture. The PS/polymer systems appear to be a new effective dosage form of PDT drugs.
Technique for measuring laser radiation intensity in biological tissues
Authors: Grachev Pavel , Loschenov Victor 
Published: August 2013

AbstractLaser methods, such as laser-induced fluorescence diagnostics, photodynamic therapy (PDT), and hyperthermia, are finding increasing use in medicine. Irradiation can be performed both with and without contact on the tissue surface. In the case of contact irradiation, especially when laser radiation is introduced into biological tissue through an optical fiber, it is important to know the processes taking place at the irradiation fiber end. These processes affect diffusely reflected radiation which returns to the fiber. By analyzing backscattered radiation, we can evaluate the quality of the radiation procedure and the state of the fiber end. The objectives of this study were to develop a method and device for measuring backscattered radiation power and using this method, to determine the time and temperature ranges realized in PDT and hyperthermia.Light propagation is discussed in bent optical fibers. A technique is proposed for measuring laser radiation intensity in the optical fiber bend. Based on this technique, a system was developed for monitoring the laser radiation dose absorbed in biological tissues. We studied samples of bovine liver, muscle and brain tissues. Experiments were performed using a 675 nm, 100–2200 mW continuous wave semi-conductor laser. Laser radiation was delivered through a silica/polymer optical fiber. Data concerning the temperature and transmitted radiation intensity was acquired.Modeling of the light propagation in a bent optical fiber showed that the sensitivity of the method depends on the position of the photodetectors, but is independent of the loop number of the optical fiber. The results of experiments are presented using different types of biological tissues. We obtained the experimental dependencies of backward and transmitted radiation intensities and the temperature of the tissue surface in the irradiated region on the irradiation time measured with a flat-end fiber. The characteristic ranges of tissue heating caused by irradiation were determined for use in clinical practice.The optical parameters of biological tissues change with increasing temperature. This affects the intensity of transmitting radiation and diffuse radiation entering the fiber. The change in the backscattered radiation intensity greatly depend on the temperature of the irradiated area. The control of the irradiation of biological objects provides an efficient delivery of laser radiation to biological tissues and increases hyperthermia and PDT treatment effect.