bluuebunny/crossref_metadata_2025_split huggingface dataset:
Changeability of the fully methylated status of the 15q11.2 region in induced pluripotent stem cells derived from a patient with Prader‐Willi syndrome
Authors: Okuno Hironobu , Nakabayashi Kazuhiko , Abe Kousei , Ando Takayuki , Sanosaka Tsukasa , Kohyama Jun , Akamatsu Wado , Ohyama Manabu , Takahashi Takao , Kosaki Kenjiro , Okano Hideyuki 
Published: December 2016

AbstractPrader‐Will syndrome (PWS) is characterized by hyperphagia, growth hormone deficiency and central hypogonadism caused by the dysfunction of the hypothalamus. Patients with PWS present with methylation abnormalities of the PWS‐imprinting control region in chromosome 15q11.2, subject to parent‐of‐origin‐specific methylation and controlling the parent‐of‐origin‐specific expression of other paternally expressed genes flanking the region. In theory, the reversal of hypermethylation in the hypothalamic cells could be a promising strategy for the treatment of PWS patients, since cardinal symptoms of PWS patients are correlated with dysfunction of the hypothalamus. The genome‐wide methylation status dramatically changes during the reprograming of somatic cells into induced pluripotent stem cells (iPSCs) and during the in vitro culture of iPSCs. Here, we tested the methylation status of the chromosome 15q11.2 region in iPSCs from a PWS patient using pyrosequencing and a more detailed method of genome‐wide DNA methylation profiling to reveal whether iPSCs with a partially unmethylated status for the chromosome 15q11.2 region exhibit global methylation aberrations. As a result, we were able to show that a fully methylated status for chromosome 15q11.2 in a PWS patient could be reversed to a partially unmethylated status in at least some of the PWS‐iPSC lines. Genome‐wide DNA methylation profiling revealed that the partial unmethylation occurred at differentially methylated regions located in chromosome 15q11.2, but not at other differentially methylated regions associated with genome imprinting. The present data potentially opens a door to cell‐based therapy for PWS patients and, possibly, patients with other disorders associated with genomic imprinting.
Genetic heterogeneity in Pakistani microcephaly families revisited
Authors: Ahmad I. , Baig S. M. , Abdulkareem A. R. , Hussain M. S. , Sur I. , Toliat M. R. , Nürnberg G. , Dalibor N. , Moawia A. , Waseem S. S. , Asif M. , Nagra H. , Sher M. , Khan M. M. A. , Hassan I. , Rehman S. ur , Thiele H. , Altmüller J. , Noegel A. A. , Nürnberg P. 
Published: December 2016

Autosomal recessive primary microcephaly (MCPH) is a rare and heterogeneous genetic disorder characterized by reduced head circumference, low cognitive prowess and, in general, architecturally normal brains. As many as 14 different loci have already been mapped. We recruited 35 MCPH families in Pakistan and could identify the genetic cause of the disease in 31 of them. Using homozygosity mapping complemented with whole‐exome, gene panel or Sanger sequencing, we identified 12 novel mutations in 3 known MCPH‐associated genes – 9 in ASPM, 2 in MCPH1 and 1 in CDK5RAP2. The 2 MCPH1 mutations were homozygous microdeletions of 164,250 and 577,594 bp, respectively, for which we were able to map the exact breakpoints. We also identified four known mutations — three in ASPM and one in WDR62. The latter was initially deemed to be a missense mutation but we demonstrate here that it affects splicing. As to ASPM, as many as 17 out of 27 MCPH5 families that we ascertained in our sample were found to carry the previously reported founder mutation p.Trp1326*. This study adds to the mutational spectra of four known MCPH‐associated genes and updates our knowledge about the genetic heterogeneity of MCPH in the Pakistani population considering its ethnic diversity.
Maxillary sinus volume: new physiopathological data in fungal ball genesis? A retrospective study
Authors: Michel J. , Radulesco T. , Mancini J. , Paganelli A. , Varoquaux A. , Adalian P. , Ranque S. , Dessi P. 
Published: December 2016

ObjectivesThe goal of this study was to compare maxillary sinus (MS) volume in patients with, or without, maxillary fungal ball.DesignMonocentric retrospective study performed on 115 patient CT scans.SettingsWe defined two groups of patients according to the absence (control group) or the presence (fungal ball group) of unilateral fungal ball in the MS. Sinus 3D reconstruction was created from CT scan.ParticipantsControl group: 71 patients (36 women – 50.7%); mean age was 51 years. Fungal ball group: 44 patients (29 women – 65.9%); mean age was 54.5 years.Main outcome measureThe univariate association between MS volume and sinus covariates was tested by anova. Multivariate analysis was made including all variables statistically significant in univariate analysis.ResultsIn the control group, mean MS volume was 14 766 mm3. The volumes of the two MSs were not statistically different in the control group (P = 0.145). In the fungal ball group, mean MS volume was 15 982 mm3. Fungal ball was found in the smallest MS in 41 of 44 cases. Univariate analysis showed a statistical difference between the pathological and the non‐pathological MS volumes (P < 10−4). Multivariate analysis confirmed the correlation between MS volume and the presence of a fungal ball (P < 10−4).ConclusionsThis study suggests that maxillary fungal ball is associated with a smaller size of the affected MS.
New olfactometric findings in Parkinson's disease
Authors: Passali G.C. , Bove F. , Vargiu L. , Bentivoglio A.R. , Anzivino R. , De Corso E. , Galli J. , Rigante M. , Pandolfini M. , Sergi B. , Giuliani M. , Cianfrone F. , Paludetti G. , Fasano A. 
Published: December 2016

ObjectivesTo investigate in Parkinson's disease‐affected patients a correlation between hyposmia and gastrointestinal dysfunction and their possible identical etiopathogenesis.DesignRetrospective cohort study.SettingENT and neurology departments (Gemelli Hospital, Rome, Italy).ParticipantsA total of 78 patients with diagnosis of PD according to the UK Brain Bank criteria. Inclusion criteria: informed consent and olfactory testing executed; exclusion criteria: signs of dementia according to the DSM‐IV criteria; Mini Mental State Examination score ≤26; head trauma; central neurological disorders, nasal or systemic diseases potentially affecting olfactory function. Motor condition was assessed by means of Hoehn and Yahr staging and by section III of the Unified PD Rating Scale, performed off and on medications.Main outcome measuresThe patients underwent olfactory evaluation (TDI score), after rhinomanometry with nasal decongestion. A total of 25 non‐motor symptoms were evaluated through an interview.ResultsOlfactory dysfunction was objectively found in 91.0% of patients, a percentage higher than the subjective hyposmia reported (55.1%) P = 0.0001. Seven patients (9.0%) were normosmic, 49 (62.8%) hyposmic and 22 (28.2%) anosmic. Subjective hyposmia, constipation, bloating and dyspepsia differed across groups, being higher in anosmic and hyposmic ones than in the normosmic group. P value was ≤0.05 for each symptom. Despite the original results, this study has the limitation of being based on subjective ratings by a relatively limited group of patients.ConclusionsHyposmia and gastrointestinal symptoms are correlated, and this would support a possible common origin; the CNS could be reached through two different pathways, both starting in the peripheral nervous system.
Association between 24‐hour combined multichannel intraluminal impedance‐pH monitoring and symptoms or quality of life in patients with laryngopharyngeal reflux
Authors: Kim S.I. , Kwon O.E. , Na S.Y. , Lee Y.C. , Park J.M. , Eun Y.G. 
Published: December 2016

ObjectiveTo evaluate the association between the parameters of 24‐hour multichannel intraluminal impedance (MII)‐pH monitoring and the symptoms or quality of life (QoL) in laryngopharyngeal reflux (LPR) patients.DesignProspective cohort study without controls.SettingUniversity teaching hospital.MethodsForty‐five LPR patients were selected from subjects who underwent 24‐hour MII‐pH monitoring and were diagnosed with LPR from September 2014 to May 2015. Reflux Symptom Index (RSI), Health‐related Quality of Life (HRQoL), Short Form 12 (SF‐12) Survey questionnaires were surveyed. Spearman's correlation was used to analyse the association between the symptoms or QoL and 24‐hour MII‐pH monitoring.ResultsMost parameters in 24‐hour MII‐pH monitoring showed weak or no correlation with RSI, HRQoL and SF‐12. Only number of non‐acid reflux events that reached the larynx and pharynx (LPR‐non‐acid) and number of total reflux events that reached the larynx and pharynx (LPR‐total) parameters showed strong correlation with heartburn in RSI (R = 0.520, P < 0.001, R = 0.478, P = 0.001, respectively). Multiple regression analysis showed that there was only one significant regression coefficient between LPR‐non‐acid and voice/hoarseness portion of HRQoL (b = 1.719, P = 0.022).ConclusionMost parameters of 24‐hour MII‐pH monitoring did not reflect subjective symptoms or QoL in patients with LPR.
Analytical modelling of residual stress in additive manufacturing
Authors: Fergani O , Berto F , Welo T , Liang S Y 
Published: December 2016

AbstractA physics‐based analytical model to assess residual stresses in additive manufacturing made of metallic materials is presented and validated experimentally. The model takes into consideration the typical multi‐pass aspect of additive manufacturing. First, the thermal signature of the process is assessed by predicting the temperature for the problem of a moving heat source, then, the thermally induced stresses in a homogenous semi‐infinite medium are determined. Taking the thermal stresses as input, the residual stresses are calculated analytically to obtain the distribution across the depth. Good agreement is obtained between the analytical prediction and X‐ray measurements made on Selective Laser Melted 316L Stainless Steel. In addition, the analytical approach enables in‐depth interpretations of results with basis in the true mechanisms of the process. Thus, the present model appears as a promising tool for optimization of process parameters in additive manufacturing, which in turn will improve the understanding of process parameters and their effect on properties of the final product.
Crack growth in a naturally corroded bridge steel
Authors: Ali K , Peng D , Jones R , Singh R R K , Zhao X L , McMillan A J , Berto F 
Published: December 2016

AbstractThis paper summarises the findings of an international collaborative programme that focuses on the problem of the growth of cracks that arise from natural corrosion in bridge steels. The experimental data presented in this paper confirm that the bridge steel da/dN versus ΔK relationship is similar to that seen by the high‐strength aerospace steels D6ac and 4340. It is then shown that the methodology developed to predict the growth of small naturally occurring cracks in aerospace materials can also be used to compute the growth of cracks that arise because of natural corrosion in bridge steels.
Accuracy of self‐report of HIV viral load among people with HIV on antiretroviral treatment
Authors: Sewell J , Daskalopoulou M , Nakagawa F , Lampe FC , Edwards S , Perry N , Wilkins E , O'Connell R , Jones M , Collins S , Speakman A , Phillips AN , Rodger AJ ,   the Antiretrovirals, Sexual Transmission Risk and Attitudes (ASTRA) Study Group
Published: December 2016

ObjectivesThe aim of the study was to assess, among people living with HIV, knowledge of their latest HIV viral load (VL) and CD4 count.MethodsAgreement between self‐report and clinic record was assessed among 2771 HIV‐diagnosed individuals on antiretroviral treatment (ART) in the UK Antiretrovirals, Sexual Transmission Risk and Attitudes Study (2011–2012). A confidential self‐completed questionnaire collected information on demographic, socioeconomic, HIV‐related and health‐related factors. Participants were asked to self‐report their latest VL [undetectable (≤ 50 copies/mL), detectable (> 50 copies/mL) or “don't know”] and CD4 count (< 200, 200–350, 351–500 or > 500 cells/μL, or “don't know”). Latest clinic‐recorded VL and CD4 count were documented.ResultsOf 2678 participants on ART, 434 (16.2%) did not accurately report whether their VL was undetectable. Of 2334 participants with clinic‐recorded VL ≤ 50 copies/mL, 2061 (88.3%) correctly reported undetectable VL; 49 (2.1%) reported detectable VL; 224 (9.6%) did not know their VL. Of 344 participants with clinic‐recorded VL > 50 copies/mL, 183 (53.2%) correctly reported detectable VL; 76 (22.1%) reported undetectable VL; 85 (24.7%) did not know their VL. Of 2137 participants who reported undetectable VL, clinic‐recorded VL was ≤ 50 copies/mL for 2061 (96.4%) and <1000 copies/mL for 2122 (99.3%). In analyses adjusted for gender/sexual orientation, ethnicity, age and time since starting ART, factors strongly associated with inaccurate self‐report of VL (including “don't know”) included socioeconomic disadvantage [prevalence ratio (95% CI) for “not” vs. “always” having enough money for basic needs: 2.4 (1.9, 3.1)], poor English fluency [3.5 (2.4, 5.1) vs. UK born], nondisclosure of HIV status [1.7 (1.3, 2.1)], ART nonadherence [2.1 (1.7, 2.7) for three or more missed doses vs. none in the past 2 weeks] and depressive symptoms (PHQ‐9 score ≥ 10) [1.9 (1.6, 2.2)]. Overall, 612 (22.9%) of 2667 participants on ART did not accurately self‐report whether or not their CD4 count was ≤ 350 cells/μL.ConclusionsThere is a high level of accuracy of a self‐report of undetectable VL in people on ART in the UK. Overall, accurate knowledge of personal VL level varied according to demographic, socioeconomic, HIV‐related and health‐related factors. Active identification of people who may benefit from increased levels of support and engagement in care is important.
Fiber spinnability of glass melts
Authors: Yue Yuanzheng , Zheng Qiuju 
Published: December 2016

AbstractFiber spinnability is the ability of a glass‐forming melt to be steadily stretched and spun into defect‐free fiber filaments. However, its quantification has not been well established owing to many controlling factors such as melt fragility, melt strength, surface tension, liquidus temperature, liquidus viscosity, and crystallization. To understand and quantify the fiber spinnability of a glass melt, we consider two key aspects: fiberizing viscosity window and melt stability. The fiberizing viscosity window is defined by the upper and lower viscosity limits. Fibers rupture above the upper viscosity limit, whereas a stable melt stream cannot form below the lower limit (ηlow). We introduce a simple parameter to quantify fiber spinnability, namely, Kfib=ηL/ηlow, where ηL is the viscosity at liquidus temperature (TL). A fiber can only form if Kfib>1. To quantify melt stability we propose the parameter of S=(TL‐TC)/(TL‐Tg), where TL and TC are the liquidus temperature, and the onset temperature of melt crystallization during cooling, respectively. Both parameters (Kfib and S) are important for a rational design of glass fiber compositions, and fiberizing process. We use two basalt melts as examples of this study to demonstrate the high sensitivity of fiber spinnability to a minor variation in chemical composition of melts.
Antimicrobial effect of an Undaria pinnatifida composite film containing vanillin against Escherichia coli and its application in the packaging of smoked chicken breast
Authors: Yang Hyun‐Ju , Lee Ji‐Hyeon , Lee Ka‐Yeon , Song Kyung Bin 
Published: December 2016

SummaryTo develop a value‐added product, we used the under‐utilised seaweed Undaria pinnatifida as a source material for the fabrication of a biodegradable film by extracting U. pinnatifida protein (UPP). UPP/gelatine composite films with different constituent ratios were prepared. In addition, the UPP/gelatine composite films containing vanillin (0.05%, 0.1% and 0.5%) were prepared as antimicrobial packaging material. To evaluate the utility of the UPP composite film containing 0.5% vanillin as food packaging material, smoked chicken breast samples inoculated with Escherichia coli were packed with the film and stored at 4 °C for 10 days. It was observed that packaging of smoked chicken breast with the UPP composite film containing vanillin decreased the population of the inoculated E. coli by 1.12 log CFU g−1 compared with that in the control sample. Thus, the UPP/gelatine composite film with added vanillin can be utilised as a packaging material for smoked chicken breast.
Minimal residual disease monitoring in childhood B lymphoblastic leukemia with t(12;21)(p13;q22);ETV6–RUNX1: concordant results using quantitation of fusion transcript and flow cytometry
Authors: Alm S. J. , Engvall C. , Asp J. , Palmqvist L. , Abrahamsson J. , Fogelstrand L. 
Published: December 2016

SummaryIntroductionThe translocation t(12;21)(p13;q22) resulting in the fusion geneETV6–RUNX1, is the most frequent gene fusion in childhood B lymphoblastic leukemia. In the Nordic Society of Paediatric Haematology and OncologyALL‐2008 treatment protocol, treatment stratification in B‐lineageALLis based on results of minimal residual disease (MRD) analysis with fluorescence‐activated cell sorting (FACS). In this study, we determined whetherRT‐qPCRof theETV6–RUNX1fusion transcript can be a reliable alternative for MRD analysis.MethodsSeventy‐eight bone marrow samples from 29 children at diagnosis and day 15, 29, and 78 during treatment were analyzed forMRDwithFACSand with quantitative reverse transcription polymerase chain reaction (RT‐qPCR). Fusion transcriptMRDwas defined as theETV6–RUNX1/GUSBratio at the follow‐up time point (day 15/29/78) divided with theETV6–RUNX1/GUSBratio at diagnosis (%).ResultsMRDanalysis withFACSand withRT‐qPCRofETV6–RUNX1fusion transcript showed strong correlation. All cases showed concordant results at the treatment stratifying time points day 29 and day 78, when comparing the two methods with a cutoff set to 0.1%.ConclusionRT‐qPCRis a valuable addition and could also be an alternative toFACSin cases whereFACSis not achievable forMRDanalysis.
Serum cholesterol and risk of lower urinary tract symptoms progression: Results from the Reduction by Dutasteride of Prostate Cancer Events study
Authors: Feng Tom , Howard Lauren E , Vidal Adriana C , Moreira Daniel M , Castro‐Santamaria Ramiro , Andriole Gerald L , Freedland Stephen J 
Published: December 2016

ObjectiveTo determine if cholesterol is a risk factor for the development of lower urinary tract symptoms in asymptomatic men.MethodsA post‐hoc analysis of the Reduction by Dutasteride of Prostate Cancer Events (REDUCE) study was carried out in 2323 men with baseline International Prostate Symptom Score <8 and not taking benign prostatic hyperplasia or cholesterol medications. Cox proportion models were used to test the association between cholesterol, high‐density lipoprotein, low‐density lipoprotein and the cholesterol : high‐density lipoprotein ratio with incident lower urinary tract symptoms, defined as first report of medical treatment, surgery or two reports of an International Prostate Symptom Score >14.ResultsA total of 253 men (10.9%) developed incident lower urinary tract symptoms. On crude analysis, higher high‐density lipoprotein was associated with a decreased lower urinary tract symptoms risk (hazard ratio 0.89, P = 0.024), whereas total cholesterol and low‐density lipoprotein showed no association. After multivariable adjustment, the association between high‐density lipoprotein and incident lower urinary tract symptoms remained significant (hazard ratio 0.89, P = 0.044), whereas no association was observed for low‐density lipoprotein (P = 0.611). There was a trend for higher cholesterol to be linked with higher lower urinary tract symptoms risk, though this was not statistically significant (hazard ratio 1.04, P = 0.054). A higher cholesterol : high‐density lipoprotein ratio was associated with increased lower urinary tract symptoms risk on crude (hazard ratio 1.11, P = 0.016) and adjusted models (hazard ratio 1.12, P = 0.012).ConclusionsAmong asymptomatic men participating in the REDUCE study, higher cholesterol was associated with increased incident lower urinary tract symptoms risk, though the association was not significant. A higher cholesterol : high‐density lipoprotein ratio was associated with increased incident lower urinary tract symptoms, whereas higher high‐density lipoprotein was protective. These findings suggest dyslipidemia might play a role in lower urinary tract symptoms progression.
Role of coagulation factors in urological malignancy: A prospective, controlled study on prostate, renal and bladder cancer
Authors: Alevizopoulos Aristeidis , Tyritzis Stavros , Leotsakos Ioannis , Anastasopoulou Ioanna , Pournaras Christos , Kotsis Paraskevi , Katsarou Olga , Alamanis Christos , Stravodimos Konstantinos , Constantinides Constantinos 
Published: December 2016

ObjectivesTo study the behavior of specific coagulation factors in different types of non‐metastatic urological cancers, and to identify their possible role as diagnostic and prognostic markers.MethodsThis was a prospective controlled study, which included three cancer patient groups and a control group of healthy individuals. The cancer subgroups consisted of renal (n = 44), prostate (n = 56) and bladder cancer (n = 47). We excluded patients receiving anticoagulant therapy, or with significant comorbidity. In all patients, certain coagulation parameters were measured (prothrombin time, international normalized ratio, partial thromboplastin time, D‐dimers, fibrinogen, F1 + 2, thrombin–antithrombin complex). Statistical analysis was carried out to explore the association of hemostasis markers with tumor–nodes–metastasis stage, Gleason score, transitional cell carcinoma grade, Fuhrman grade and prostate‐specific antigen.ResultsOur final sample consisted in 58 control patients and 147 patients with urological cancer. We found specific patterns of increased coagulation factors in the different cancers that were statistically significant. Renal cancer showed increased levels of D‐dimers, partial thromboplastin time and fibrinogen. D‐dimers and fibrinogen were increased in prostate cancer; whereas in bladder cancer, only fibrinogen was elevated. Correlations were found between certain factors and tumor stage and grading, with D‐dimers being independently associated with higher tumor grade. Thrombin–antithrombin complex was associated with Gleason score. Furthermore, D‐dimers, fibrinogen and F1 + 2 were associated with higher tumor stages (II–IV).ConclusionsThe coagulation pathway seems to be activated in urological malignancies. Specific panels of coagulation factors might play a role as screening or prognostic tools in earlier stages of renal, prostate and bladder cancer. Further research should also focus on their role in the association of cancer with thromboembolic events.
La arquitectura de la gobernanza mundial del trabajo
Authors: HENDRICKX Frank , MARX Axel , RAYP Glenn , WOUTERS Jan 
Published: December 2016

ResumenEn esta introducción al número monográfico se sitúa la arquitectura de la gobernanza mundial del trabajo en el contexto de la globalización y se analiza el panorama jurídico teniendo en cuenta los recientes incidentes y debates. Los autores ofrecen una visión general de los mecanismos mundiales de protección de los derechos en el trabajo, que clasifican según tres modalidades: la intergubernamental basada en la labor de la OIT, las iniciativas intergubernamentales destinadas a las empresas multinacionales, y las iniciativas privadas basadas en la responsabilidad social de las empresas. Dan cuenta de las aportaciones de los diferentes artículos del número y concluyen analizando las brechas de control existentes.