bluuebunny/crossref_metadata_2025_split huggingface dataset:
Successful operational integration of healthcare analytics at Seattle Children's
Authors: Frisbee Kathleen L. , Sousa Ryan 
Published: August 2022

AbstractIntroductionAs the quantity and complexity of health data grows, it is critical for healthcare organizations to devise analytic strategies that power data innovation so they can take advantage of new opportunities and improve outcomes. Seattle Children's Healthcare System (Seattle Children's) is an example of an organization that has built an operating model that integrates analytics into their business and daily operations. We present a roadmap for how Seattle Children's consolidated its fragmented analytics operations into a unified cohesive ecosystem capable of supporting advanced analytics capabilities and operational integration to transform care and accelerate research.MethodsIn‐depth interviews were conducted with ten leaders at Seattle Children's who have been instrumental in developing their enterprise analytics program. Interviews included the following leadership roles: Chief Data & Analytics Officer, Director of Research Informatics, Principal Systems Architect, Manager of Bioinformatics and High Throughput Analytics, Director of Neurocritical Care, Strategic Program Manager & Neuron Product Development Lead, Director of Dev Ops,Director of Clinical Analytics, Data Science Manager, and Advance Analytics Product Engineer. The interviews were unstructured and consisted of conversations intended to gather information from leadership about their experiences in building out Enterprise Analytics at Seattle Children's.ResultsSeattle Children's has built an advanced enterprise analytics ecosystem that is integrated into its daily operations by applying an entrepreneurial mindset and agile development practices that are common in a startup environment. Analytics efforts were approached iteratively by selecting high‐value projects that were delivered through Multidisciplinary Delivery Teams that were integrated into service lines. Service line leadership, in partnership with the Delivery Team leads, were responsible for the success of the team by setting project priorities, determining project budgets, and maintaining overall governance of their analytics endeavors. This organizational structure has led to the development of a wide range of analytic products that have been used to improve both operations and clinical care at Seattle Children's.ConclusionsSeattle Children's has demonstrated how a leading healthcare system can successfully create a robust, scalable, near real‐time analytics ecosystem‐ one that delivers significant value to the organization from the ever‐expanding volume of health data we see today.
Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort
Authors: Souzeau Emmanuelle , Siggs Owen M. , Mullany Sean , Schmidt Joshua M. , Hassall Mark M. , Dubowsky Andrew , Chappell Angela , Breen James , Bae Haae , Nicholl Jillian , Hadler Johanna , Kearns Lisa S. , Staffieri Sandra E. , Hewitt Alex W. , Mackey David A. , Gupta Aanchal , Burdon Kathryn P. , Klebe Sonja , Craig Jamie E. , Mills Richard A. 
Published: August 2022

AbstractCorneal dystrophies describe a clinically and genetically heterogeneous group of inherited disorders. The International Classification of Corneal Dystrophies (IC3D) lists 22 types of corneal dystrophy, 17 of which have been demonstrated to result from pathogenic variants in 19 identified genes. In this study, we investigated the diagnostic yield of genetic testing in a well‐characterised cohort of 58 individuals from 44 families with different types of corneal dystrophy. Individuals diagnosed solely with Fuchs endothelial corneal dystrophy were excluded. Clinical details were obtained from the treating ophthalmologist. Participants and their family members were tested using a gene candidate and exome sequencing approach. We identified a likely molecular diagnosis in 70.5% families (31/44). The detection rate was significantly higher among probands with a family history of corneal dystrophy (15/16, 93.8%) than those without (16/28, 57.1%, p = .015), and among those who had undergone corneal graft surgery (9/9, 100.0%) compared to those who had not (22/35, 62.9%, p = .041). We identified eight novel variants in five genes and identified five families with syndromes associated with corneal dystrophies. Our findings highlight the genetic heterogeneity of corneal dystrophies and the clinical utility of genetic testing in reaching an accurate clinical diagnosis.
HPDL mutations identified by exome sequencing are associated with infant neurodevelopmental disorders
Authors: Wang Yanhong , Zheng Xuan , Feng Chao , Fan Xiaoge , Liu Lei , Guo Pengbo , Lei Zhi , Mei Shiyue 
Published: August 2022

AbstractBackgroundRecent research found that biallelic HPDL variants can cause neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), with only a few reports. Clinical phenotypic information on individuals with damaging HPDL variants may also be incomplete. The phenotype of NEDSWMA is characterized by severe neurodevelopmental delay, brain atrophy, and spasticity in infancy.MethodsExome sequencing was used in the proband and his parents to identify the underlying genetic cause. Candidate mutations were validated by classic Sanger sequencing. The clinical presentation of the infant who carried HPDL variants was summarized.ResultsWe identified a novel compound heterozygous variants in HPDL, c.995delC (p.T332Mfs) and c.1051C>T (p.Q351*) in the patient a 6‐month‐old boy presenting with global developmental delay, seizures, hypertonia, and limb spasticity. Brain magnetic resonance imaging (MRI) showed thin corpus callosum, ventriculomegaly, white matter volume reduction, bilateral frontotemporal subarachnoid widening, and sulcus deeping.ConclusionOur results provided important information for the associations of variants in HPDL with the neurodevelopmental disorder in infants, and broaden the genetic spectrum of HPDL‐related disease. This is the second report of the HPDL mutation causing infant neurodevelopmental disorders in a Chinese population.
A fast GPU‐accelerated Monte Carlo engine for calculation of MLC‐collimated electron fields
Authors: Brost Eric E. , Wan Chan Tseung H. , Antolak John A. 
Published: August 2022

AbstractBackgroundAlthough intensity‐modulated radiation therapy and volumetric arc therapy have revolutionized photon external beam therapies, the technological advances associated with electron beam therapy have fallen behind. Modern linear accelerators contain technologies that would allow for more advanced forms of electron treatments, such as beam collimation, using the conventional photon multi‐leaf collimator (MLC); however, no commercial solutions exist that calculate dose from such beam delivery modes. Additionally, for clinical adoption to occur, dose calculation times would need to be on par with that of modern dose calculation algorithms.PurposeThis work developed a graphics processing unit (GPU)‐accelerated Monte Carlo (MC) engine incorporating the Varian TrueBeam linac head geometry for a rapid calculation of electron beams collimated using the conventional photon MLC.MethodsA compute unified device architecture framework was created for the following: (1) transport of electrons and photons through the linac head geometry, considering multiple scattering, Bremsstrahlung, Møller, Compton, and pair production interactions; (2) electron and photon propagation through the CT geometry, considering all interactions plus the photoelectric effect; and (3) secondary particle cascades through the linac head and within the CT geometry. The linac head collimating geometry was modeled according to the specifications provided by the vendor, who also provided phase‐space files. The MC was benchmarked against EGSnrc/DOSXYZnrc/GEANT by simulating individual interactions with simple geometries, pencil, and square beam dose calculations in various phantoms. MC‐calculated dose distributions for MLC and jaw‐collimated electron fields were compared to measurements in a water phantom and with radiochromic film.ResultsPencil and square beam dose distributions are in good agreement with DOSXYZnrc. Angular and spatial distributions for multiple scattering and secondary particle production in thin slab geometries are in good agreement with EGSnrc and GEANT. Dose profiles for MLC and jaw‐collimated 6–20‐MeV electron beams showed an average absolute difference of 1.1 and 1.9 mm for the FWHM and 80%–20% penumbra from measured profiles. Percent depth doses showed differences of <5% for as compared to measurement. The computation time on an NVIDIA Tesla V100 card was 2.5 min to achieve a dose uncertainty of <1%, which is ∼300 times faster than published results in a similar geometry using a single‐CPU core.ConclusionsThe GPU‐based MC can quickly calculate dose for electron fields collimated using the conventional photon MLC. The fast calculation times will allow for a rapid calculation of electron fields for mixed photon and electron particle therapy.
The role of mtDNA in oocyte quality and embryo development
Authors: St John Justin C. , Okada Takashi , Andreas Eryk , Penn Alexander 
Published: August 2022

AbstractThe mitochondrial genome resides in the mitochondria present in nearly all cell types. The porcine (Sus scrofa) mitochondrial genome is circa 16.7 kb in size and exists in the multimeric format in cells. Individual cell types have different numbers of mitochondrial DNA (mtDNA) copy number based on their requirements for ATP produced by oxidative phosphorylation. The oocyte has the largest number of mtDNA of any cell type. During oogenesis, the oocyte sets mtDNA copy number in order that sufficient copies are available to support subsequent developmental events. It also initiates a program of epigenetic patterning that regulates, for example, DNA methylation levels of the nuclear genome. Once fertilized, the nuclear and mitochondrial genomes establish synchrony to ensure that the embryo and fetus can complete each developmental milestone. However, altering the oocyte's mtDNA copy number by mitochondrial supplementation can affect the programming and gene expression profiles of the developing embryo and, in oocytes deficient of mtDNA, it appears to have a positive impact on the embryo development rates and gene expression profiles. Furthermore, mtDNA haplotypes, which define common maternal origins, appear to affect developmental outcomes and certain reproductive traits. Nevertheless, the manipulation of the mitochondrial content of an oocyte might have a developmental advantage.
Long‐term retention of golimumab treatment in clinical practice in a large cohort of patients with rheumatoid arthritis, axial spondyloarthritis and psoriatic arthritis
Authors: Pombo‐Suárez Manuel , Seoane‐Mato Daniel , Díaz‐González Federico , Cea‐Calvo Luis , Sánchez‐Alonso Fernando , Sánchez‐Jareño Marta , Jovani Vega , García‐Magallón Blanca , Martínez‐González Olga , Campos‐Fernández Cristina , Manero Javier , Díaz‐Torne Cesar , Bohórquez Cristina , Ros‐Vilamajó Inmaculada , Pérez‐Vera Yanira , Castrejón Isabel 
Published: August 2022

AbstractAimTo assess the golimumab retention rate during up to 8 years of follow up, and any associated factors.MethodsRetrospective analysis of the BIOBADASER (Spanish registry of biological drugs) database, assessing all adults who had ever started golimumab >6 months before the analysis for an approved indication (rheumatoid arthritis [RA], axial spondyloarthritis [SpA] or psoriatic arthritis [PsA]).ResultsAmong 885 patients (RA 267, axial SpA 370, PsA 248) receiving 944 cycles of golimumab, the retention rate of golimumab was 71.1% (95% confidence interval: 68.0–73.9) at year 1% and 37.7% (95% CI: 33.3–42.1) at year 7 and at year 8. Retention was higher when golimumab was used as the first biological drug (81.7% at year 1, 49.9% at year 7, p < 0.001). In Cox regression analysis, factors associated with golimumab retention included use as first‐line therapy (hazard ratio [HR] for discontinuation 1.52 for second‐ and 1.79 for third/later‐line vs. first‐line), use in axial SpA or PsA rather than RA (HR for axial SpA vs. RA 0.59, for PsA vs. Rheumatoid arthritis 0.67), and treatment with concomitant methotrexate (HR 0.67). Factors associated with golimumab discontinuation were corticosteroid use (HR 1.46) and disease activity above median (HR 1.29) at golimumab initiation.ConclusionBased on this retrospective analysis of the BIOBADASER registry, nearly two‐fifths (37.7%) of adult rheumatology patients initiating golimumab will remain on treatment for 8 years, with a higher probability of retention in axial SpA or PsA indications and when golimumab is used as first biologic.
Safety and effectiveness of the nasal bridle securement device to retain feeding tubes in adult patients in the intensive care unit: An observational study
Authors: Aeberhardt Laurel E. , Bains Vininder K. , Desai Sameer 
Published: August 2022

AbstractBackgroundNasal bridle securement devices were introduced to our adult intensive care unit (ICU) in October 2016 as an alternative for securing small‐bore feeding tubes in patients at higher risk of inadvertent tube dislodgement.MethodWe assessed high‐risk ICU patients from October 2014 to March 2019 to address three objectives. First, we prospectively monitored ICU patients with a nasal bridle for all types of adverse events. Second, we used propensity score methods to create a (1:1) matched historical comparison group (ie, tape group). We then compared the number of inadvertent tube dislodgements and the caloric intake between the tape and nasal bridle groups.ResultsIn the prospective group (n = 64), there were 20 adverse events, 12 of which were inadvertent tube dislodgements. Forty‐eight participants in the nasal bridle group were matched with participants in the historical group. Thirty‐five percent (17/48) of patients in the tape group had at least one inadvertent tube dislodgement; in the nasal bridle group, 48% (23/48) had at least one inadvertent tube dislodgement, although this only occurred in 7 of 48 (15%) patients after the nasal bridle had been inserted. The tape group achieved a lower median percentage of total caloric intake received (66.0%) compared with that of the nasal bridle group (86.1%; P = 0.017).ConclusionsIn the subpopulation of ICU patients with a small‐bore feeding tube who demonstrate a higher risk of inadvertent tube dislodgement, use of the nasal bridle may be associated with a higher caloric intake, even though it does not completely prevent tube dislodgement.
Kernel‐based active subspaces with application to computational fluid dynamics parametric problems using the discontinuous Galerkin method
Authors: Romor Francesco , Tezzele Marco , Lario Andrea , Rozza Gianluigi 
Published: August 2022

AbstractNonlinear extensions to the active subspaces method have brought remarkable results for dimension reduction in the parameter space and response surface design. We further develop a kernel‐based nonlinear method. In particular, we introduce it in a broader mathematical framework that contemplates also the reduction in parameter space of multivariate objective functions. The implementation is thoroughly discussed and tested on more challenging benchmarks than the ones already present in the literature, for which dimension reduction with active subspaces produces already good results. Finally, we show a whole pipeline for the design of response surfaces with the new methodology in the context of a parametric computational fluid dynamics application solved with the discontinuous Galerkin method.
Sleep disruption and delirium in critically ill children: Study protocol feasibility
Authors: Kalvas Laura Beth , Harrison Tondi M. , Solove Sandra , Happ Mary Beth 
Published: August 2022

AbstractDelirium is a serious complication of pediatric critical illness. Sleep disruption is frequently observed in children with delirium, and circadian rhythm dysregulation is one proposed cause of delirium. Children admitted to the pediatric intensive care unit (PICU) experience multiple environmental exposures with the potential to disrupt sleep. Although researchers have measured PICU light and sound exposure, sleep, and delirium, these variables have not yet been fully explored in a single study. Furthermore, caregiving patterns have not often been included as a component of the PICU environment. Measuring the light and sound exposure, caregiving patterns, and sleep of critically ill children requires continuous PICU bedside data collection. This presents multiple methodological challenges. In this paper, we describe the protocol for an observational pilot study of the PICU environment, sleep, and delirium experienced by a sample of 10 critically ill children 1–4 years of age. We also evaluate and discuss the feasibility (i.e., acceptability, implementation, practicality) of the study protocol. Light and sound exposure were measured with bedside sensors. Caregiving was quantified through video recording. Sleep was measured via actigraphy and confirmed by video recording. Delirium screening with the Cornell Assessment of Pediatric Delirium was conducted twice daily, either in person or via video review. This study provides a refined measurement framework to inform future, large‐scale studies and the development of nurse‐driven sleep promotion interventions.
Enhanced mechanical properties of bridged graphene oxide/bismaleimide nanocomposites
Authors: Li Jixiang , Zhang Han , Zhang Xueqin , Sun Tong , Heng Zhengguang , Zou Huawei 
Published: August 2022

AbstractAs the primary matrix resin for advanced composites, bismaleimide (BMI) is highly demand in the aerospace field, but its development is limited due to the brittleness of the cured resin. Graphene oxide (GO) is often used as a toughening filler for thermosetting resins due to the special structure, but the dispersion and interface interaction with the matrix have been puzzling. To improve toughening effect of GO in BMI, we proposed a strategy to selectively functionalize the surface of GO. In our work, GO was functionalized by maleic anhydride (MAH) and BMI resin (QY8911‐IV) was selected as the matrix of the nanocomposite. A series of characterizations demonstrated that MAH has been bonded to the surface of GO and modified GO still maintained a nanoscale dimension. Moreover, the short‐chain of MAH can provide a bridging effect. The impact strength of MAH‐GO/QY8911‐IV nanocomposite was 29.06 kJ/m2 at 0.05 wt% loading of MAH‐GO, which was 93.2% higher than that of neat QY8911‐IV. Morphology analysis revealed that the fracture behavior of MAH‐GO modified nanocomposites changed from brittle to ductile. Meanwhile, the nanocomposite showed great heat resistance and thermal stability, so it could be expected to be popularized in high‐load and high‐temperature working environments.
CREATE Childhood Cancer Rehabilitation Program development: Increase access through interprofessional collaboration
Authors: Tanner Lynn R. , Sencer Susan , Gossai Nathan , Watson David , Hooke Mary C. 
Published: August 2022

AbstractBackgroundCancer and its treatment can lead to functional limitations affecting ongoing development in children and adolescents. We developed a pediatric cancer rehabilitation program that integrates evidence‐based rehabilitative care into cancer treatment. The program utilizes the CREATE (collaboration, rehabilitation/research, education, assessment, treatment, evaluation) Childhood Cancer Rehabilitation model. We aim to describe the structural and process components of our rehabilitation program and provide an access and utilization analysis.ProceduresTo evaluate the rehabilitation program, we identified new patients with oncologic diagnoses from 2002 to 2019 using our database. To evaluate rehabilitative care, descriptive data, including the timing and type of rehabilitation services utilized within 5 years of a child's diagnosis, were collected and reviewed. Statistical analysis focused on change over time.ResultsAmong 1974 children assessed, 1580 (80.0%) received care from at least one rehabilitation service. Between 2002 and 2018, the percentage of children receiving rehabilitation services grew significantly throughout all disciplines, except for outpatient speech‐language pathology. Utilization differed by age and diagnosis. Integrating therapists in the clinic improved patient access, reduced the time to access outpatient services, and increased the number of attended visits. Additional factors supporting program growth included: identifying leaders, using a prospective surveillance model, education, and program evaluation.ConclusionA multimodal interprofessional approach, such as the CREATE model, improves access to and the efficiency of evidence‐based rehabilitation services promoting recovery, ongoing development, and quality of life.
Common bone marrow signature in COVID‐19‐associated multisystem inflammatory syndrome in children: A first‐wave small case series experience
Authors: De Ioris Maria Antonietta , Scarselli Alessia , Bracaglia Claudia , Perrotta Daniela , Bernardi Stefania , Santilli Veronica , Ceglie Giulia , Fabozzi Francesco , Agrati Chiara , Prencipe Giusi , Alaggio Rita , Mastronuzzi Angela , De Vito Rita 
Published: August 2022

AbstractThe hyper‐inflammatory response, also known as multisystem inflammatory syndrome in children (MIS‐C), represents a major concern in children with SARS‐CoV‐2 infection. We report bone marrow features of three patients with MIS‐C who were diagnosed during the first wave of the SARS‐CoV‐2 pandemic. A bone marrow evaluation was performed at onset of the inflammatory condition in order to exclude secondary hemophagocytic lymphohistiocytosis (sHLH). The bone marrows of the patients presented common features: the erythroid and megakaryocytic lineages were prominently affected and hemophagocytosis was moderately increased, differently than observed in sHLH. Megakaryocytopoiesis was increased, representing a peculiar feature of MIS‐C differing from sHLH. SARS‐CoV‐2 RT‐PCR and viral panel were studied in bone marrow aspiration samples. MIS‐C is a rare complication of SARS‐CoV‐2 infections in children. An immuno‐dysregulation considering both innate and adaptive immunity together with vascular inflammation and endothelial dysfunction play a major role. Our observations, although limited due to the small sample size, suggest that there are unique features in the bone marrow of patients with MIS‐C that are likely secondary to immuno‐dysregulation, and there are notable differences in bone marrow features compared to those reported in sHLH.
Preparation of intercalating halloysite by in situ synthesized polymethyl methacrylate and its effects on the crystallization behaviors and mechanical properties of polylactic acid composites
Authors: Ding Yu , Tian Xiujuan , Guo Xudong , Zhao Lifen , Chang Yuanzhi 
Published: August 2022

AbstractPolylactic acid/halloysites (PLA/HNTs) composites with different nanotube contents were prepared by solution blending. Using unmodified HNTs and polymethyl methacrylate intercalated halloysites (PMMA‐HNTs), their structures and properties were comparatively investigated. It is found that the glass transition temperature (Tg) of the composites is lower than that of pure PLA. In addition, both HNTs and PMMA‐HNTs promoted the crystallization of PLA. However, due to the good dispersion of PMMA‐HNTs in the matrix, the crystallinity of PMMA‐HNTs‐modified PLA is higher than that of HNTs‐modified PLA loaded with the same nanoparticles. The study on the mechanical properties of PMMA‐HNTs and HNTs‐modified PLA composites suggested that when the content of PMMA‐HNTs was not higher than 4 wt%, it could simultaneously improve the elongation at break and tensile strength. Thermal stability studies showed that the T5% and Tmax of the two composites did not improve significantly, but the amount of carbon residues increased. This study provides a new strategy for modifying HNTs and preparing PLA composites with good comprehensive properties.