bluuebunny/crossref_metadata_2025_split huggingface dataset:
Novel PITX2 mutations identified in Axenfeld–Rieger syndrome and the pattern of PITX2‐related tooth agenesis
Authors: Fan Zhuangzhuang , Sun Shichen , Liu Haochen , Yu Miao , Liu Ziyuan , Wong Sing‐Wai , Liu Yang , Han Dong , Feng Hailan 
Published: September 2019

AbstractObjectivesTo investigate the mutations in patients with Axenfeld–Rieger syndrome (ARS) and the pattern of PITX2‐related tooth agenesis.MethodsWhole‐exome sequencing (WES) and copy number variation (CNV) array were used to screen the mutations in four ARS probands. After Sanger sequencing and quantitative polymerase chain reaction (qPCR) validation, secondary structure prediction and dual‐luciferase assay were employed to investigate the functional impact. Eighteen PITX2‐mutated patients with definite dental records were retrieved from our database and literatures, and the pattern of PITX2‐related tooth agenesis was analyzed.ResultsA novel de novo segmental deletion of chromosome 4q25 (GRCh37/hg19 chr4:111, 320, 052–111, 754, 236) encompassing PITX2 and three novel PITX2 mutations c.148C > T, c.257G > A, and c.630insCG were identified. Preliminary functional studies indicated the transactivation capacity of mutant PITX2 on Distal‐less homeobox 2 (DLX2) promoter was compromised. The maxillary teeth showed significantly higher rate of agenesis (57.94%) than the mandibular teeth (44.05%). The most often missing teeth were upper lateral incisors (83.33%) and upper second premolars (69.44%). Teeth with the least agenesis rate were the lower second molars (19.44%) and lower first molars (8.33%).ConclusionsWe identified a novel 4q25 microdeletion including PITX2 and three novel PITX2 mutations, and statistically analyzed the PITX2‐related tooth agenesis pattern.
Translating literature into English in the twenty‐first century
Authors: Dalvai Marion 
Published: September 2019

AbstractSince the turn of the millennium, the translation community has initiated several projects aimed at increasing the visibility of contemporary international literature in English translation. This article is an overview and evaluation of these initiatives and will analyse several interlinked matters: (1) reports and manifestos on translation; (2) two projects that seek to collect and interpret data regarding translated literature available in English; (3) marketing tools developed by cultural institutions, foundations and small publishing houses with a major or exclusive focus on translated texts, and their use of new and old technologies aimed at attracting an audience for what still seems a niche market in the English‐speaking world. While the opportunities for promoting translation have been widely exploited, there has been little in the way of a systematic effort to generate and publish reliable data on the state of the market for translations into English. It is therefore timely to review those efforts that exist, to ask what light these fact‐finding initiatives shed on the market for literary translations into English, and to consider how these initiatives might be further developed or replaced in the decades to come.
Linking Decision Theory and Quantitative Microbial Risk Assessment: Tradeoffs Between Compliance and Efficacy for Waterborne Disease Interventions
Authors: Hayashi Michael A. L. , Eisenberg Marisa C. , Eisenberg Joseph N. S. 
Published: September 2019

AbstractAchieving health gains from the U.N. Sustainable Development Goals of universal coverage for water and sanitation will require interventions that can be widely adopted and maintained. Effectiveness—how an intervention performs based on actual use—as opposed to efficacy will therefore be central to evaluations of new and existing interventions. Incomplete compliance—when people do not always use the intervention and are therefore exposed to contamination—is thought to be responsible for the lower‐than‐expected risk reductions observed from water, sanitation, and hygiene interventions based on their efficacy at removing pathogens. We explicitly incorporated decision theory into a quantitative microbial risk assessment model. Specifically, we assume that the usability of household water treatment (HWT) devices (filters and chlorine) decreases as they become more efficacious due to issues such as taste or flow rates. Simulations were run to examine the tradeoff between device efficacy and usability. For most situations, HWT interventions that trade lower efficacy (i.e., remove less pathogens) for higher compliance (i.e., better usability) contribute substantial reductions in diarrheal disease risk compared to devices meeting current World Health Organization efficacy guidelines. Recommendations that take into account both the behavioral and microbiological properties of treatment devices are likely to be more effective at reducing the burden of diarrheal disease than current standards that only consider efficacy.
Assessment of oral health status of children with Leukemia: A cross‐sectional study
Authors: Kapoor Gauri , Goswami Mridula , Sharma Sadhna , Mehta Anurag , Dhillon Jatinder Kaur 
Published: September 2019

AbstractAimThe present study was conducted with an aim to assess the oral hygiene status, gingival health status, and prevalence of dental caries, oral mucositis and xerostomia among children with leukemia and compare it with healthy children.Methods and ResultsA total sample size of 220 children with 110 children with Leukemia of subtype acute lymphoblastic leukemia (ALL) undergoing treatment and 110 healthy children in the age group of 3‐14 years was selected. Evaluation of caries status using dmft/DMFT indices, oral hygiene status using OHI‐S and plaque index by Sillness and Loe, gingival health status using modified gingival index, oral mucositis as per WHO oral toxicity scale, xerostomia as per common terminology criteria for adverse events for dry mouth, and salivary pH using pH paper strips was done. Results revealed a lower prevalence of dental caries, good oral hygiene and mild gingivitis in children with ALL when compared to healthy children. Oral mucositis was found to occur only in children with ALL and a reduced salivary flow rate and reduced salivary pH were seen in these children when compared to healthy children.ConclusionIt was concluded that children with ALL undergoing treatment and following an oral care protocol presented with a good Oral Health Status when compared with healthy children.
Uncertainty Propagation Through a Simulation of Industrial High Pressure Die Casting
Authors: Fu Jiahong , Coleman John , Poole Gregory , Krane Matthew John M. , Marconnet Amy 
Published: September 2019

Abstract
While numerical models are often used in industry to evaluate the transport phenomena in solidification processes, the uncertainty in the results propagated from uncertain input parameters is rarely considered. In this work, in order to investigate the effects of input uncertainty on the outputs of high pressure die casting (HPDC) simulations, the Center for Prediction of Reliability, Integrity, and Survivability of Microsystems (PRISM) uncertainty quantification (PUQ) framework was applied. Three uncertainty propagation trials investigate the impact of uncertainty in metal material properties, thermal boundary conditions, and a modeling parameter on outputs of interest, such as fraction liquid at different times in the process cycle and shrinkage porosity volume, in an industrial A380 aluminum alloy HPDC process. This quantification of the output uncertainty establishes the reliability of the simulation results and can inform process design choices, such as the determination of the part ejection time. The results are most sensitive to the uncertainty in the interfacial heat transfer (for both outputs of interest) and the feeding effectivity (FE) (a model parameter controlling porosity formation determination), while the other heat transfer boundary conditions, model parameters, and all the properties play a secondary role in output uncertainty.
Flow Visualization of Microscale Effusion and Transpiration Cooling on Semi-cylinder for Gas Turbine Cooling Application
Authors: Shin Dong Hwan , Kim Yeonghwan , Kim Jin Sub , Kang Do Won , Sohn Jeong-Lak , Lee Jungho 
Published: September 2019

Abstract
Effusion and transpiration cooling can be an attractive method of air cooling for the next generation high-efficient gas turbine which has a very hot gas temperature over 1,600°C (TRIT). For higher effectiveness of air cooling for a gas turbine vane and blade, the air-cooled flow through effusion-holes and porous metal surface should not penetrate into the mainstream flow but still remain within the thermal boundary layer. The present visualization study examines flow behavior of microscale effusion and transpiration cooling on semi-cylinder. The secondary flow issued from the effusion-holes and porous metal surface is visualized by a smoke-tube method which consists of oil droplet generator, diode pumped solid state (DPSS) laser and highspeed imaging. The flow visualization of microscale effusion and transpiration cooling on semi-cylinder is characterized with various blowing ratios. It is found that the transpiration cooling consumes less coolant air than effusion cooling and has better cooling effectiveness based on the same flow rate of coolant air. Visual criteria can be provided to maintain the effusion and transpiration cooling on semi-cylinder for gas turbine cooling application.
[This work was supported by the National Research Council of Science and Technology (NST) grant funded by the Ministry of Science and ICT, Korea (Grant No. KIMM-NK219B).]
Techno-Economic Optimization of Electricity and Heat Production in a Gas-Fired Combined Heat and Power Plant With a Heat Accumulator
Authors: Żymełka Piotr , Szega Marcin , Madejski Paweł 
Published: September 2019

Abstract
At present, power systems based on gas turbines are mainly used for electricity and heat generation. Gas turbines are used in industrial and institutional applications due to high-temperature exhaust, which can be used for heating, drying, or process steam production. The combined cycle gas turbine plants are a mature technology with high reliability and offering rapid response to changing demand for electricity and heat. The combination of a gas turbine with a heat recovery system and a heat accumulator makes the combined heat and power (CHP) plant a flexible unit. The paper presents the optimization tool for the planning process of electricity and heat production in the gas-fired CHP plant with a heat accumulator. The detailed mathematical model of the analyzed cogeneration plant was developed with the EBSILON®Professional and verified based on the results from on-site tests and warranty measurements. The implemented optimization algorithm is used to maximize the profits of the CHP plant operation. The presented solution is based on an evolutionary algorithm. The optimization algorithm is applied to the production determination for the day-ahead planning horizon, with 1-h time step. The obtained results show that the developed optimization model is a reliable and efficient tool for production planning in a CHP plant with gas turbines. The comparative exergy analysis for different technologies of heat recovery from gas turbine exhaust gases was performed to evaluate the quality of the energy conversion process in the CHP plant.
Specificity of various cluster criteria used for the detection of glaucomatous visual field abnormalities
Authors: Wu Zhichao , Medeiros Felipe A , Weinreb Robert N , Girkin Christopher A , Zangwill Linda M 
Published: September 2019

PurposeThis study aimed to evaluate the specificity of commonly used cluster criteria for defining the presence of glaucomatous visual field abnormalities and the impact of variations in the criterion used.MethodsThis is an observational study including 607 eyes from 384 healthy participants, and 501 eyes of 345 participants with glaucoma, with at least two reliable 24–2 visual field tests. An abnormal visual field cluster was defined as the presence of ≥3 contiguous abnormal locations. Variations in this definition were evaluated and included (1) whether abnormalities were based on total deviation and/or pattern deviation values; (2) probability cut-off for defining an abnormal location; and (3) whether abnormalities were required to be repeatable (within the same hemifield or at the same locations) or not. These definitions were also compared against pattern standard deviation (PSD) values.ResultsFalse-positive rates of various cluster criteria ranged between 9% and 46% depending on the specific definitions used. Only definitions that required abnormalities to be repeatable at the same location achieved a false-positive rate of ≤6%. The various cluster criteria generally performed similarly or worse at detecting glaucoma eyes compared with the PSD values.ConclusionsCommonly used visual field cluster criteria have high false-positive rates that vary widely depending on the definition used. These findings highlight the need to carefully consider the criteria used when designing and interpreting glaucoma clinical studies.Trial registration numberNCT00221923.
Prediction system for risk of allograft loss in patients receiving kidney transplants: international derivation and validation study
Authors: Loupy Alexandre , Aubert Olivier , Orandi Babak J , Naesens Maarten , Bouatou Yassine , Raynaud Marc , Divard Gillian , Jackson Annette M , Viglietti Denis , Giral Magali , Kamar Nassim , Thaunat Olivier , Morelon Emmanuel , Delahousse Michel , Kuypers Dirk , Hertig Alexandre , Rondeau Eric , Bailly Elodie , Eskandary Farsad , Böhmig Georg , Gupta Gaurav , Glotz Denis , Legendre Christophe , Montgomery Robert A , Stegall Mark D , Empana Jean-Philippe , Jouven Xavier , Segev Dorry L , Lefaucheur Carmen 
Published: September 2019

AbstractObjectiveTo develop and validate an integrative system to predict long term kidney allograft failure.DesignInternational cohort study.SettingThree cohorts including kidney transplant recipients from 10 academic medical centres from Europe and the United States.ParticipantsDerivation cohort: 4000 consecutive kidney recipients prospectively recruited in four French centres between 2005 and 2014. Validation cohorts: 2129 kidney recipients from three centres in Europe and 1428 from three centres in North America, recruited between 2002 and 2014. Additional validation in three randomised controlled trials (NCT01079143, EudraCT 2007-003213-13, and NCT01873157).Main outcome measureAllograft failure (return to dialysis or pre-emptive retransplantation). 32 candidate prognostic factors for kidney allograft survival were assessed.ResultsAmong the 7557 kidney transplant recipients included, 1067 (14.1%) allografts failed after a median post-transplant follow-up time of 7.12 (interquartile range 3.51-8.77) years. In the derivation cohort, eight functional, histological, and immunological prognostic factors were independently associated with allograft failure and were then combined into a risk prediction score (iBox). This score showed accurate calibration and discrimination (C index 0.81, 95% confidence interval 0.79 to 0.83). The performance of the iBox was also confirmed in the validation cohorts from Europe (C index 0.81, 0.78 to 0.84) and the US (0.80, 0.76 to 0.84). The iBox system showed accuracy when assessed at different times of evaluation post-transplant, was validated in different clinical scenarios including type of immunosuppressive regimen used and response to rejection therapy, and outperformed previous risk prediction scores as well as a risk score based solely on functional parameters including estimated glomerular filtration rate and proteinuria. Finally, the accuracy of the iBox risk score in predicting long term allograft loss was confirmed in the three randomised controlled trials.ConclusionAn integrative, accurate, and readily implementable risk prediction score for kidney allograft failure has been developed, which shows generalisability across centres worldwide and common clinical scenarios. The iBox risk prediction score may help to guide monitoring of patients and further improve the design and development of a valid and early surrogate endpoint for clinical trials.Trial registrationClinicaltrials.gov NCT03474003.
Effectiveness of a multifactorial context-enhancing functional therapy to promote functional arm use and recovery of stroke survivors: study protocol for a clinical trial
Authors: Rajagopalan Vasanthan , Natarajan Manikandan , Gorthi Sankar Prasad , Padickaparambil Sebastian , Solomon John M 
Published: September 2019

IntroductionAfter a stroke, 55% of survivors do not regain the ability to completely use their arm in daily life functioning. Currently, evidence-based guidelines recommend functional training for improving the affected hand after stroke. However, promoting an optimal quantity and quality of functional training is influenced by personal and environmental contextual factors. Studies that comprehensively target multiple factors regulating arm use are limited. This study compares the effects of functional training to multifactorial context-enhancing functional training program for improving functional arm use and recovery after stroke.Methods and analysisThis is a protocol for an observer-blinded, two parallel groups, randomised controlled trial. A total of 126 community-dwelling subacute and chronic stroke survivors will be included in the study. A tailor-made multifactorial context-enhancing intervention-incorporating education, environmental enrichment and behaviour change techniques to reinforce functional training will be provided to the experimental group. The functional training group will be provided with functional exercises. The intervention will be delivered for 2 months. The primary outcomes of functional arm use and recovery will be measured using Motor Activity Log, Goal Attainment Scale and Rating of Everyday Arm-use in the Community and Home scale. The secondary outcomes of arm motor impairment and function will be measured using Fugl-Meyer upper limb score, Action Research Arm Test, ABILHAND questionnaire and Stroke Impact Scale. These will be measured at three points in time: before, after 2 months and after 1-month follow-up. The outcome measures will be analysed using one-way analysis of variance and regression analysis will be performed to identify factors limiting optimal task practice.Ethics and disseminationThe study has been approved by the Institutional Ethics Committee of Kasturba Hospital, Manipal, India. Participants will sign a written informed consent prior to participation. The results will be published on completion of the trial and communicated to community-dwelling stroke survivors.Trial registration numberCTRI/2017/10/010108
Suicidal behaviour in postnatal mothers in northwestern Ethiopia: a cross-sectional study
Authors: Belete Habte , Misgan Eyaya 
Published: September 2019

AimTo assess the prevalence and associated factors of suicidal behaviour (suicidal ideation, plan or suicide attempt) in postpartum mothers.MethodAn institutional cross-sectional study was employed from March to April 2017.SettingTwo primary health centres and one referral hospital in northwestern Ethiopia.ParticipantsA total of 1065 mothers aged ≥18 years during routine postnatal care were included and 988 of them completed the study. Those who were unable to communicate due to illness were not included.Outcome measureMothers who visit for routine postnatal care were assessed for suicidal behaviour using a suicidal screening tool. Logistic analysis was employed with adjusted OR (AOR) and 95% CI, and with p value less than 0.05 as the level of significance.ResultsThe prevalence of suicidal behaviour (suicidal ideation, plan or suicide attempt) was found at 14.0% (138/988) (95% CI 12.00 to 16.00) in postpartum mothers. Poor wealth of the mother (AOR=2.80, 95% CI 1.18 to 6.84), unplanned pregnancy of the current child (AOR=2.28, 95% CI 1.48 to 3.54), history of rape (AOR=2.26, 95% CI 1.42 to 3.61) and sickness of the new child (AOR=1.68, 95% CI 1.12 to 2.52) were significantly associated with suicidal behaviours.ConclusionSuicidal behaviour was found pretty high among postpartum mothers and was associated with poor wealth, unplanned pregnancy, history of rape and sickness of the new infant. It is recommended to screen mothers for possible suicidal behaviour during routine postnatal care.
Vulnerability to fatal drowning among the population in Southern Bangladesh: findings from a cross-sectional household survey
Authors: Rahman Aminur , Jagnoor Jagnoor , Baset Kamran ul , Ryan Dan , Ahmed Tahera , Rogers Kris , Hossain Mohammad Jahangir , Ivers Rebecca , Rahman A K M Fazlur 
Published: September 2019

ObjectivesThis study aimed to determine the fatal drowning burden and associated risk factors in Southern Bangladesh.SettingsThe survey was conducted in 39 subdistricts of all 6 districts of the Barisal division, Southern Bangladesh.ParticipantsAll residents (for a minimum 6 months prior to survey) of the Barisal division, Southern Bangladesh.Intervention/methodsA cross-sectional, divisionally representative household survey was conducted in all six districts of the Barisal division between September 2016 and February 2017, covering a population of 386 016. Data were collected by face-to-face interview with adult respondents using handheld electronic tablets. International Classification of Diseases (ICD)-v. 10 (ICD-10) Chapter XX: External causes of morbidity and mortality codes for drowning, W65–W74, X36–X39, V90, V92, X71 or X92, were used as the operational definition of a drowning event.ResultsThe overall fatal drowning rate in Barisal was 37.9/100 000 population per year (95% CI 31.8 to 43.9). The highest fatal drowning rate was observed among children aged 1–4 years (262.2/100 000/year). Mortality rates among males (48.2/100 000/year) exceeded that for females (27.9/100 000/year). A higher rate of fatal drowning was found in rural (38.9/100 000/year) compared with urban areas (29.3/100 000/year). The results of the multivariable logistic regression identified that the factors significantly associated with fatal drowning were being male (OR 1.7, 95% CI 1.2 to 2.3), aged 1–4 years (OR 3.0, 95% CI 1.4 to 6.4) and residing in a household with four or more children (four or more children OR 1.8, 95% CI 1.1 to 2.9; and five or more children OR 2.1, 95% CI 1.2 to 3.7).ConclusionDrowning is a public health problem, especially for children, in the Barisal division of Southern Bangladesh. Male gender, children 1–4 years of age and residing in a household with four or more children were associated with increased risk of fatal drowning events. The Barisal division demands urgent interventions targeted at high-risk groups identified in the survey.