bluuebunny/crossref_metadata_2025_split huggingface dataset:
Thermal Behavior of Magnetoresistive Heads: An Analysis of the Thermal Asperity Problem
Authors: Kennedy Francis E. , Chen Li , Bogy David B. 
Published: March 2020

Abstract
It is well known that the resistance of a magnetoresistive (MR) or giant magnetoresistive (GMR) head, and therefore its output, varies as its temperature changes. This causes uncertainty in the interpretation of magnetic output, and this uncertainty becomes more important when an asperity or particle passes by or comes into contact with the slider, causing a voltage transient during read back. The temperature variation during non-contact is caused by changes in the cooling of the air bearing surface as the flying height changes. When contact occurs an even more significant temperature spike, called a ‘thermal asperity’ (or TA), is caused by frictional heating at the contact interface. These temperature fluctuations are analyzed in this paper.
Results show that the temperature of the MR read coil is influenced by bias current in read coil, slider materials and flying height (which is sensitive to surface topography). The temperature variation without contact causes MR output signal variations which can be used to characterize surface topography. The flash temperature rise that occurs with asperity contact can be as much as 150 degrees (C) or more at the contact interface, but it lasts less than a microsecond. The magnitude of the TA temperature spike is affected by contact force, sliding velocity, and geometry and properties of slider and disk materials, including surface films.
Comparison of the management recommendations of the Kaiser Permanente neonatal early-onset sepsis risk calculator (SRC) with NICE guideline CG149 in infants ≥34 weeks’ gestation who developed early-onset sepsis
Authors: Morris Rachel , Jones Steve , Banerjee Sujoy , Collinson Andrew , Hagan Hannah , Walsh Hannah , Thornton Graham , Barnard Ian , Warren Chris , Reid Jennifer , Busfield Alison , Matthes Jean 
Published: March 2020

ObjectiveTo compare the management recommendations of the Kaiser Permanente neonatal early-onset sepsis risk calculator (SRC) with National Institute for Health and Care Excellence (NICE) guideline CG149 in infants ≥34 weeks’ gestation who developed early-onset sepsis (EOS).DesignRetrospective multicentre study.SettingFive maternity services in South West of England and Wales.Patients70 infants with EOS (<72 hours) confirmed on blood or cerebrospinal fluid culture.MethodsRetrospective virtual application of NICE and SRC through review of maternal and neonatal notes.Main outcome measureThe number of infants recommended antibiotics by 4 hours of birth.ResultsThe incidence of EOS ≥34 weeks was 0.5/1000 live births. Within 4 hours of birth, antibiotics were recommended for 39 infants (55.7%) with NICE, compared with 27 (38.6%) with SRC. The 12 infants advised early treatment by NICE but not SRC remained well, only one showing transient mild symptoms after 4 hours. Another four babies received antibiotics by 4 hours outside NICE and SRC guidance. The remaining 27 infants (38.6%) received antibiotics when symptomatic after 4 hours. Only one infant who was unwell from birth, died. Eighty-one per cent of all EOS infants were treated for clinical reasons rather than for risk factors alone.ConclusionWhile both tools were poor in identifying EOS within 4 hours, NICE was superior to SRC in identifying asymptomatic cases. Currently, four out of five EOS have symptoms at first identification, the majority of whom present within 24 hours of birth. Antibiotic stewardship programmes using SRC should include enhanced observation for infants currently treated within NICE guidance.
Examining which clinicians provide admission hospital care in a high mortality setting and their adherence to guidelines: an observational study in 13 hospitals
Authors: Ogero Morris , Akech Samuel , Malla Lucas , Agweyu Ambrose , Irimu Grace , English Mike 
Published: March 2020

BackgroundWe explored who actually provides most admission care in hospitals offering supervised experiential training to graduating clinicians in a high mortality setting where practices deviate from guideline recommendations.MethodsWe used a large observational data set from 13 Kenyan county hospitals from November 2015 through November 2018 where patients were linked to admitting clinicians. We explored guideline adherence after creating a cumulative correctness of Paediatric Admission Quality of Care (cPAQC) score on a 5-point scale (0–4) in which points represent correct, sequential progress in providing care perfectly adherent to guidelines comprising admission assessment, diagnosis and treatment. At the point where guideline adherence declined the most we dichotomised the cPAQC score and used multilevel logistic regression models to explore whether clinician and patient-level factors influence adherence.ResultsThere were 1489 clinicians who could be linked to 53 003 patients over a period of 3 years. Patients were rarely admitted by fully qualified clinicians and predominantly by preregistration medical officer interns (MOI, 46%) and diploma level clinical officer interns (COI, 41%) with a median of 28 MOI (range 11–68) and 52 COI (range 5–160) offering care per study hospital. The cPAQC scores suggest that perfect guideline adherence is found in ≤12% of children with malaria, pneumonia or diarrhoea with dehydration. MOIs were more adherent to guidelines than COI (adjusted OR 1.19 (95% CI 1.07 to 1.34)) but multimorbidity was significantly associated with lower guideline adherence.ConclusionOver 85% of admissions to hospitals in high mortality settings that offer experiential training in Kenya are conducted by preregistration clinicians. Clinical assessment is good but classifying severity of illness in accordance with guideline recommendations is a challenge. Adherence by MOI with 6 years’ training is better than COI with 3 years’ training, performance does not seem to improve during their 3 months of paediatric rotations.
Real-world management of treatment-naïve diabetic macular oedema: 2-year visual outcome focusing on the starting year of intervention from STREAT-DMO study
Authors: Shimura Masahiko , Kitano Shigehiko , Muramatsu Daisuke , Fukushima Harumi , Takamura Yoshihiro , Matsumoto Makiko , Kokado Masahide , Kogo Jiro , Sasaki Mariko , Morizane Yuki , Utsumi Takuya , Koto Takashi , Sonoda Shozo , Hirano Takao , Ishikawa Hiroto , Mitamura Yoshinori , Okamoto Fumiki , Kinoshita Takamasa , Kimura Kazuhiro , Sugimoto Masahiko , Yamashiro Kenji , Suzuki Yukihiko , Hikichi Taiichi , Washio Noriaki , Sato Tomohito , Ohkoshi Kishiko , Tsujinaka Hiroki , Kusuhara Sentaro , Kondo Mineo , Takagi Hitoshi , Murata Toshinori , Sakamoto Taiji 
Published: March 2020

Background/aimsTo investigate the yearly change of real-world outcomes for best corrected visual acuity (BCVA) after 2-year clinical intervention for treatment-naïve diabetic macular oedema (DMO).MethodsRetrospective analysis of aggregated, longitudinal medical records obtained from 27 retina specialised institutions in Japan from Survey of Treatment for DMO database. A total of 2049 treatment-naïve centre involving DMO eyes of which the initial intervention started between 2010 and 2015, and had been followed for 2 years, were eligible. As interventions, antivascular endothelial growth factor (VEGF) agents, local corticosteroids, macular photocoagulation and vitrectomy were defined. In each eye, baseline and final BCVA, the number of each intervention for 2 years was extracted. Each eye was classified by starting year of interventional treatment.ResultsAlthough baseline BCVA did not change by year, 2-year improvement of BCVA had been increased, and reached to +6.5 letters in the latest term. There is little difference among starting year about proportions of eyes which BCVA gained >15 letters, in contrast to those which lost >15 letters were decreased by year. The proportion of eyes receiving anti-VEGF therapy was dramatically increased, while those receiving the other therapies were gradually decreased. The proportion of eyes which maintained socially good vision of BCVA>20/40 has been increased and reached to 59.0% in the latest term.ConclusionFor recent years, treatment patterns for DMO have been gradually but certainly changed; as a result, better visual gain, suppression of worsened eyes and better final BCVA have been obtained. Anti-VEGF therapy has become the first-line therapy and its injection frequency has been increasing.
Ballistic gelatin calibration standardisation
Authors: Pullen Amy , Kieser D C , Hooper G 
Published: March 2020

IntroductionA review of ballistic gelatin calibration standards has highlighted that data used from studies with different calibrations methods may not be able to be compared. Calibration of ballistic gelatin did not occur until the mid-1980s when Fackler recognised the deficiencies of uncalibrated gelatin. He determined that the calibration standard should be 85±5 mm of ball bearing penetration for a 180 m/s impact velocity. This study looks to improve on and optimise current ballistic gelatin calibration standardsMethodsNine 0.177 cal (4.5 mm) spheres were fired using a Daisy Powerline air rifle at velocities between 134 m/s and 224 m/s at 25 gelatin blocks (n=225). Velocities were measured using an Oehler Model 36 Chronograph with three Model 57 screens. Depth of penetration (DoP) was measured from the entry surface to the back end of the sphere via a Mitutoyo Absolute vernier calliper.ResultsThe R-squared regression model showed that all batches had a close fit to the regression line. Using the R-squared regression model, the equation y=0.584x – 20.02 (where x is the velocity) returned a DoP of 84.918 mm for a 180 m/s impact and therefore needed minimal adjustment to align with Fackler’s 85 mm DoP. The equation can be adjusted to y=0.584x – 20.12 to return a DoP of 85 mm for 180 m/s.ConclusionsWe propose that the calibration standard of ballistic gelatin with 4.5 mm spheres is DoP=0.584x – 20.12 where DoP is the depth of penetration (mm) and x is the impact velocity (m/s), The measured DoP should be within 5% of the calculated DoP.
Drug use and torsades de pointes cardiac arrhythmias in Sweden: a nationwide register-based cohort study
Authors: Danielsson Bengt , Collin Julius , Nyman Anastasia , Bergendal Annica , Borg Natalia , State Maria , Bergfeldt Lennart , Fastbom Johan 
Published: March 2020

ObjectiveTo study the occurrence of torsades de pointes (TdP) ventricular tachycardia in relation to use of drugs labelled with TdP risk, using two nationwide Swedish registers.DesignProspective register-based cohort study.SettingEntire Sweden.ParticipantsPersons aged ≥18 years prescribed and dispensed any drug classified with TdP risk during 2006–2017, according to CredibleMeds. Persons with a registered TdP diagnosis during the study period, using drugs labelled with known (TdP 1), possible (TdP 2) or conditional (TdP 3) risk at the incident of TdP were examined.Primary outcome measuresOccurrence of TdP in relation to exposure rates for individual drugs with TdP risk.Secondary outcome measuresConcurrent use of more than one TdP-labelled drug in a person with a TdP diagnosis.ResultsDuring the study period, 410 TdP cases using drugs with TdP risk labels at the incident were registered; 205 women and 205 men, mean age 74.0 and 71.5 years, respectively. Antidepressants dominated (129/410, 30%), followed by antiarrhythmics (17%). Diuretics and gastric acid-secretion inhibitors, with TdP risk related to induction of hypokalaemia or hypomagnesaemia, were used in 56% and 32% of the 410 TdP cases, respectively. Among the most used antidepressants, citalopram with known TdP 1 risk was associated with both a higher absolute number and incidence of TdP per 100 000 users (two to four times), compared with mirtazapine with possible (TdP 2), and sertraline with conditional (TdP 3) risk. Multiple risk factors, including advanced age, cardiovascular disease and treatment with more than one TdP-classified drug, were frequently observed.ConclusionsAntidepressants followed by antiarrhythmics dominated among TdP risk drugs used by adults with TdP diagnosis, the majority being ≥65 years. TdP risk class and concomitant medication should be considered when prescribing antidepressants to older patients.
Sequential third-year medical student quality assurance (QA) clerkship projects appear to introduce a culture of continuous quality improvement across New Jersey family medicine practices
Authors: Ramdin Christine , Keller Steven 
Published: March 2020

BackgroundIn recent years, Rutgers New Jersey Medical School Department of Family Medicine has integrated a quality assurance (QA) project as a required component of their 5-week medical student clerkship. This project requires each student to conduct a QA study at an assigned family practice and discuss the results with their preceptor. The aim of this study was to determine if sequential medical student QA projects impact physician readiness to improve guideline adherence over time.MethodsA retrospective analysis of student reports was conducted to determine if physician readiness to improve compliance improved post implementation of the QA project using James Prochaska’s Transtheoretical Model of Behavioral Change. Fisher’s exact test or the χ2test were used as applicable to compare the change in results.ResultsIn academic year 2015–2016, there were 11 (6%) instances where physicians were precontemplating on change, 43 (24%) instances where physicians were contemplating, 101 (57%) instances where physicians were preparing to make change, 18 (10%) instances where physicians were acting, and 4 (2%) of instances where a physician were maintaining previous changes. The following year, the numbers were: 15 (8%), 38 (21%), 82 (46%), 34 (19%) and 11 (6%), respectively. There were increases of physicians in stages of precontemplation (p=0.047), action (p=0.02) and maintenance (p=0.047), a decrease in physicians that were in the stage of preparation (p=0.05) and no significant change in the instances they were in a stage of contemplation (p=0.60).ConclusionStudent QA projects appear to leverage physician readiness to improve guideline adherence. Future studies will determine if raising awareness through these clerkship projects results in practice behavioural change.
Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility
Authors: Arnau-Collell Coral , Soares de Lima Yasmin , Díaz-Gay Marcos , Muñoz Jenifer , Carballal Sabela , Bonjoch Laia , Moreira Leticia , Lozano Juan José , Ocaña Teresa , Cuatrecasas Miriam , Díaz de Bustamante Aranzazu , Castells Antoni , Capellà Gabriel , Bujanda Luis , Cubiella Joaquin , Rodríguez-Alcalde Daniel , Balaguer Francesc , Ruiz-Ponte Clara , Valle Laura , Moreno Victor , Castellvi-Bel Sergi 
Published: March 2020

BackgroundSerrated polyposis syndrome (SPS) is a clinical entity characterised by large and/ormultiple serrated polyps throughout the colon and increased risk for colorectal cancer (CRC). The basis for SPS genetic predisposition is largely unknown. Common, low-penetrance genetic variants have been consistently associated with CRC susceptibility, however, their role in SPS genetic predisposition has not been yet explored.ObjectiveThe aim of this study was to evaluate if common, low-penetrance genetic variants for CRC risk are also implicated in SPS genetic susceptibility.MethodsA case-control study was performed in 219 SPS patients and 548 asymptomatic controls analysing 65 CRC susceptibility variants. A risk prediction model for SPS predisposition was developed.ResultsStatistically significant associations with SPS were found for seven genetic variants (rs4779584-GREM1, rs16892766-EIF3H, rs3217810-CCND2, rs992157-PNKD1/TMBIM1, rs704017-ZMIZ1, rs11196172-TCF7L2, rs6061231-LAMA5). TheGREM1risk allele was remarkably over-represented in SPS cases compared with controls (OR=1.573, 1.21–2.04, p value=0.0006). A fourfold increase in SPS risk was observed when comparing subjects within the highest decile of variants (≥65) with those in the first decile (≤50).ConclusionsGenetic variants for CRC risk are also involved in SPS susceptibility, being the most relevant ones rs4779584-GREM1, rs16892766-EIF3Hand rs3217810-CCND2.
Diverse types of genomic evidence converge on alcohol use disorder risk genes
Authors: Dai Yulin , Hu Ruifeng , Pei Guangsheng , Zhang Huiping , Zhao Zhongming , Jia Peilin 
Published: March 2020

BackgroundAlcohol use disorder (AUD) is one of the most common forms of substance use disorders with a strong contribution of genetic (50%–60%) and environmental factors. Genome-wide association studies (GWAS) have identified a number of AUD-associated variants, including those in alcohol metabolism genes. These genetic variants may modulate gene expression, making individuals more susceptible to AUD. A long-term alcohol consumption can also change the transcriptome patterns of subjects via epigenetic modulations.MethodsTo explore the interactive effect of genetic and epigenetic factors on AUD, we conducted a secondary analysis by integrating GWAS, CNV, brain transcriptome and DNA methylation data to unravel novel AUD-associated genes/variants. We applied the mega-analysis of OR (MegaOR) method to prioritise AUD candidate genes (AUDgenes).ResultsWe identified a consensus set of 206 AUDgenes based on the multi-omics data. We demonstrated that these AUDgenes tend to interact with each other more frequent than chance expectation. Functional annotation analysis indicated that these AUDgenes were involved in substance dependence, synaptic transmission, glial cell proliferation and enriched in neuronal and liver cells. We obtained a multidimensional evidence that AUD is a polygenic disorder influenced by both genetic and epigenetic factors as well as the interaction of them.ConclusionWe characterised multidimensional evidence of genetic, epigenetic and transcriptomic data in AUD. We found that 206 AUD associated genes were highly expressed in liver, brain cerebellum, frontal cortex, hippocampus and pituitary. Our studies provides important insights into the molecular mechanism of AUD and potential target genes for AUD treatment.
Heterogeneity of MSI-H gastric cancer identifies a subtype with worse survival
Authors: Yang Yanmei , Shi Zhong , Bai Rui , Hu Wangxiong 
Published: March 2020

BackgroundMicrosatellite instability-high (MSI-H) tumour patients generally have a better prognosis than microsatellite-stable (MSS) ones due to the large number of non-synonymous mutations. However, an increasing number of studies have revealed that less than half of MSI-H patients gain survival benefits or symptom alleviation from immune checkpoint-blockade treatment. Thus, an in-depth inspection of heterogeneous MSI-H tumours is urgently required.MethodsHere, we used non-negative matrix factorisation (non-NMF)-based consensus clustering to define stomach adenocarcinoma (STAD) MSI-H subtypes in samples from The Cancer Genome Atlas and an Asian cohort, GSE62254.ResultsMSI-H STAD samples are basically clustered into two subgroups (MSI-H1 and MSI-H2). Further examination of the immune landscape showed that immune suppression factors were enriched in the MSI-H1 subgroup, which may be associated with the poor prognosis in this subgroup.ConclusionsOur results illustrate the genetic heterogeneity within MSI-H STADs, with important implications for cancer patient risk stratification, prognosis and treatment.
Clinical and genetic features of somatic mosaicism in facioscapulohumeral dystrophy
Authors: Qiu Liangliang , Ye Zhixian , Lin Lin , Wang Lili , Lin Xiaodan , He Junjie , Lin Feng , Xu Guorong , Cai Naiqing , Jin Ming , Chen Haizhu , Lin Minting , Wang Ning , Wang Zhiqiang 
Published: March 2020

PurposeTo analyse the clinical spectrum, genetic features, specific D4Z4 hypomethylation status and genotype–phenotype correlations for somatic mosaicism in facioscapulohumeral dystrophy (FSHD).MethodsThis was a prospective, hospital-based, case–control, observational study of 35 participants with FSHD with somatic mosaicism recruited over 10 years, with 17 penetrant patients and 18 non-penetrant mutation carriers. This study also included a univariate comparison of 17 paired mosaic and non-mosaic patients with FSHD.ResultsMosaic participants with FSHD varied in age of diagnosis (median 45; range 15–65 years), muscle strength (FSHD clinical score median 0; range 0–10 points), clinical severity (age-corrected clinical severity score (ACSS) median 0; range 0–467 points), D4Z4 repeats (median 3; range 2–5 units), mosaic proportion (median 55%; range 27%–72%) and D4Z4 methylation extent (median 49.82%; range 27.17%–64.51%). The genotypic severity scale and D4Z4 methylation extent were significantly associated with ACSS (p1=0.003; p2=0.002). Among the matched pairs, the 17 mosaic patients had shorter D4Z4 repeats, lower FSHD clinical scores and lower ACSS than non-mosaic patients. Additionally, 34 of 35 (97%) participants carried two mosaic arrays, while a single patient had three mosaic arrays (3%). Two cases also carried four-type non-mosaic arrays on chromosome 10 (translocation configuration).ConclusionsBroadly, this large mosaic FSHD cohort exhibited significant clinical heterogeneity and relatively slight disease severity. Both genotypic severity scale and D4Z4 hypomethylation status served as modifiers of clinical phenotypes. Consistent with previous reports, mitotic interchromosomal/intrachromosomal gene conversion without crossover was here identified as a major genetic mechanism underlying mosaic FSHD.
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder
Authors: Squeo Gabriella Maria , Augello Bartolomeo , Massa Valentina , Milani Donatella , Colombo Elisa Adele , Mazza Tommaso , Castellana Stefano , Piccione Maria , Maitz Silvia , Petracca Antonio , Prontera Paolo , Accadia Maria , Della Monica Matteo , Di Giacomo Marilena Carmela , Melis Daniela , Selicorni Angelo , Giglio Sabrina , Fischetto Rita , Di Fede Elisabetta , Malerba Natascia , Russo Matteo , Castori Marco , Gervasini Cristina , Merla Giuseppe 
Published: March 2020

BackgroundThe regulation of the chromatin state by epigenetic mechanisms plays a central role in gene expression, cell function, and maintenance of cell identity. Hereditary disorders of chromatin regulation are a group of conditions caused by abnormalities of the various components of the epigenetic machinery, namely writers, erasers, readers, and chromatin remodelers. Although neurological dysfunction is almost ubiquitous in these disorders, the constellation of additional features characterizing many of these genes and the emerging clinical overlap among them indicate the existence of a community of syndromes. The introduction of high-throughput next generation sequencing (NGS) methods for testing multiple genes simultaneously is a logical step for the implementation of diagnostics of these disorders.MethodsWe screened a heterogeneous cohort of 263 index patients by an NGS-targeted panel, containing 68 genes associated with more than 40 OMIM entries affecting chromatin function.ResultsThis strategy allowed us to identify clinically relevant variants in 87 patients (32%), including 30 for which an alternative clinical diagnosis was proposed after sequencing analysis and clinical re-evaluation.ConclusionOur findings indicate that this approach is effective not only in disorders with locus heterogeneity, but also in order to anticipate unexpected misdiagnoses due to clinical overlap among cognate disorders. Finally, this work highlights the utility of a prompt diagnosis in such a clinically and genetically heterogeneous group of disorders that we propose to group under the umbrella term of chromatinopathies.