bluuebunny/crossref_metadata_2025_split huggingface dataset:
Molecular basis of various forms of maple syrup urine disease in Chilean patients
Authors: Campanholi Diana Ruffato Resende , Margutti Ana Vitoria Barban , Silva Wilson A. , Garcia Daniel F. , Molfetta Greice A. , Marques Adriana A. , Schwartz Ida Vanessa Döederlein , Cornejo V. , Hamilton Valerie , Castro Gabriela , Sperb‐Ludwig Fernanda , Borges Ester S. , Camelo José S. 
Published: May 2021

ABSTRACTBackgroundMaple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder caused by the deficient activity of the branched‐chain α‐keto acid dehydrogenase (BCKD) enzymatic complex. BCKD is a mitochondrial complex encoded by four genes: BCKDHA, BCKDHB, DBT, and DLD. MSUD is predominantly caused by mutations in the BCKDHA, BCKDHB, and DBT genes which encode the E1α, E1β, and E2 subunits of the BCKD complex, respectively. The aim of this study was to characterize the genetic basis of MSUD in a cohort of Chilean MSUD patients by identifying point mutations in the BCKDHA, BCKDHB, and DBT genes and to describe their impact on the phenotypic heterogeneity of these patients.MethodsThis manuscript describes a cross‐sectional study of 18 MSUD patients carried out using PCR and DNA sequencing.ResultsFour novel pathogenic mutations were identified: one in BCKDHA (p.Thr338Ile), two in BCKDHB (p.Gly336Ser e p.Pro240Thr), and one in DBT (p.Gly406Asp). Four additional pathogenic mutations found in this study have been described previously. There were no correlations between the genotype and phenotype of the patients.ConclusionIf MSUD is diagnosed earlier, with a newborn screening approach, it might be possible to establish genotype‐phenotype relationships more efficiently.
Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey
Authors: Cope Heidi , Barseghyan Hayk , Bhattacharya Surajit , Fu Yulong , Hoppman Nicole , Marcou Cherisse , Walley Nicole , Rehder Catherine , Deak Kristen , Alkelai Anna ,   Undiagnosed Diseases Network, Vilain Eric , Shashi Vandana 
Published: May 2021

ABSTRACTBackgroundCurrently available structural variant (SV) detection methods do not span the complete spectrum of disease‐causing SVs. Optical genome mapping (OGM), an emerging technology with the potential to resolve diagnostic dilemmas, was performed to investigate clinically‐relevant SVs in a 4‐year‐old male with an epileptic encephalopathy of undiagnosed molecular origin.MethodsOGM was utilized to image long, megabase‐size DNA molecules, fluorescently labeled at specific sequence motifs throughout the genome with high sensitivity for detection of SVs greater than 500 bp in size. OGM results were confirmed in a CLIA‐certified laboratory via mate‐pair sequencing.ResultsOGM identified a mosaic, de novo 90 kb deletion and inversion on the X chromosome disrupting the CDKL5 gene. Detection of the mosaic deletion, which had been previously undetected by chromosomal microarray, an infantile epilepsy panel including exon‐level microarray for CDKL5, exome sequencing as well as genome sequencing, resulted in a diagnosis of X‐linked dominant early infantile epileptic encephalopathy‐2.ConclusionOGM affords an effective technology for the detection of SVs, especially those that are mosaic, since these remain difficult to detect with current NGS technologies and with conventional chromosomal microarrays. Further research in undiagnosed populations with OGM is warranted.
Three‐dimensional whole‐brain mapping of cerebral blood volume and venous cerebral blood volume using Fourier transform–based velocity‐selective pulse trains
Authors: Li Wenbo , Liu Dapeng , van Zijl Peter C. M. , Qin Qin 
Published: May 2021

PurposeTo develop 3D MRI methods for cerebral blood volume (CBV) and venous cerebral blood volume (vCBV) estimation with whole‐brain coverage using Fourier transform–based velocity‐selective (FT‐VS) pulse trains.MethodsFor CBV measurement, FT‐VS saturation pulse trains were used to suppress static tissue, whereas CSF contamination was corrected voxel‐by‐voxel using a multi‐readout acquisition and a fast CSF T2 scan. The vCBV mapping was achieved by inserting an arterial‐nulling module that included a FT‐VS inversion pulse train. Using these methods, CBV and vCBV maps were obtained on 6 healthy volunteers at 3 T.ResultsThe mean CBV and vCBV values in gray matter and white matter in different areas of the brain showed high correlation (r = 0.95 and P < .0001). The averaged CBV and vCBV values of the whole brain were 5.4 ± 0.6 mL/100 g and 2.5 ± 0.3 mL/100 g in gray matter, and 2.6 ± 0.5 mL/100 g and 1.5 ± 0.2 mL/100 g in white matter, respectively, comparable to the literature.ConclusionThe feasibility of FT‐VS‐based CBV and vCBV estimation was demonstrated for 3D acquisition with large spatial coverage.
“Pacing does help you get your life back”: The acceptability of a newly developed activity pacing framework for chronic pain/fatigue
Authors: Antcliff Deborah , Keenan Anne‐Maree , Keeley Philip , Woby Steve , McGowan Linda 
Published: May 2021

AbstractObjectivesWe have developed and feasibility tested an activity pacing framework for clinicians to standardise their recommendations of activity pacing to patients with chronic pain/fatigue. This study aimed to explore the acceptability and fidelity to this framework in preparation for a future trial of activity pacing.DesignAcceptability and fidelity were explored using semi‐structured interviews. Data were analysed using framework analysis.ParticipantsPatients who attended a rehabilitation programme for chronic pain/fatigue underpinned by the framework, and clinicians (physiotherapists and psychological wellbeing practitioners) who led the programmes.ResultsSeventeen interviews were conducted, involving 12 patients with chronic pain/fatigue and five clinicians. The framework analysis revealed four deductive themes: (1) Acceptability of the activity pacing framework, (2) Acceptability of the feasibility study methods, (3) Processes of change and (4) Barriers and facilitators to activity pacing; and one inductive theme: (5) Perspectives of patients and clinicians.ConclusionsThe activity pacing framework appeared acceptable to patients and clinicians, and adherence to the framework was demonstrated. Processes of behaviour change included patients' regulation of activities through activity pacing. Barriers to pacing included work/social commitments and facilitators included identifying the benefits of pacing on symptoms. Different perspectives emerged between clinicians and patients regarding interpretations of symptom‐contingent and quota‐contingent strategies. The framework recognises fluctuations in symptoms of chronic pain/fatigue and encourages a quota‐contingent approach with flexibility. Future work will develop a patient friendly guide ahead of a clinical trial to explore the effects of pacing.
Modeling Distribution of Endemic Bartram’s Bass Micropterus sp. cf. coosae: Disturbance and Proximity to Invasion Source Increase Hybridization with Invasive Alabama Bass
Authors: Peoples Brandon K. , Judson Emily , Darden Tanya L. , Farrae Daniel J. , Kubach Kevin , Leitner Jean , Scott Mark C. 
Published: May 2021

Abstract
“Bartram’s Bass” Micropterus sp. cf. coosae is endemic to the upper Savannah River basin of the southeastern United States and is threatened by hybridization with invasive Alabama Bass Micropterus henshalli. Bartram’s Bass have been functionally extirpated from reservoirs, and hybrid individuals have been detected in several tributaries. However, the extent of introgression in tributaries is currently unknown. Our objectives were to (1) assess the distribution of Bartram’s Bass, native Largemouth Bass M. salmoides, invasive Alabama Bass, and their hybrids in streams of the upper Savannah River basin and (2) quantify effects of abiotic variables on the distribution of each species. We sampled 154 locations in 2017 and 2018 and assigned genetic identity using hydrolysis probes and microsatellites. We␣used conditional inference trees to quantify variables affecting the occurrence of each species and hybrids. We observed widespread hybridization across the basin. Pure Bartram’s Bass were collected at 27% (42) of sites, among which only 12 sites contained pure Bartram’s Bass and no other congeners. Thirty sites where pure Bartram’s Bass were collected contained hybrids. In the montane Blue Ridge ecoregion, occurrence of pure Bartram’s Bass was negatively affected by low levels of local-scale developed land cover. In the lower-relief Piedmont ecoregion, pure Bartram’s Bass were positively associated with watershed-scale forest land cover and stream gradient. Distance from a reservoir was positively associated with occurrence of pure Bartram’s Bass in both ecoregions. Pure Bartram’s Bass are likely to occur with high probability in only 16% of nonimpounded stream segments; this represents a conservative estimate, and the true number is likely lower. However, future work accounting for incomplete detection of Bartram’s Bass will help to improve confidence in true extirpations. Conservation efforts may be more successful if implemented on stream segments farther from reservoirs or upstream of dispersal barriers preventing colonization of Alabama Bass.
Chasing Northern Pike under Ice: Long-Distance Movements Following Catch-and-Release Ice Angling
Authors: Somers Christopher M. , Goncin Una , Hamilton Shayna , Chupik Michelle , Fisher Ryan 
Published: May 2021

Abstract
Catch-and-release ice angling is a popular recreational activity, but little is known about the postrelease behavior of fish in the winter. Cold water temperatures and an ambush hunting strategy may constrain Northern Pike Esox lucius, limiting their postrelease movements to a small area near the capture location. We used manual acoustic telemetry to track 15 Northern Pike ranging from 56 to 98.5 cm total length for up to 7 d after catch-and-release ice angling in Buffalo Pound Lake, Saskatchewan, Canada. All of the fish but one moved unexpectedly long distances of several km over the tracking period. For the fish that were tracked over all 7 d, path lengths traveled ranged from 1.4 to 18.4 km. The minimum daily distance traveled ranged from 0 to 4.6 km and varied significantly by tracking day; the fish moved shorter distances on day 4 postrelease. There was a significant interaction between fish size and day postrelease; larger fish moved shorter minimum daily distances and dispersed shorter distances from the release site over the first 2 d of tracking. In contrast, by 5 d after release, both the largest and smallest fish had dispersed the longest distances from the release site and intermediate-sized fish dispersed the least. The cumulative path length traveled by day 5 of tracking did not reveal any significant size-based patterns. Our study raises the possibility that relatively large movements may be common for Northern Pike in the winter despite cold water temperatures and their expected foraging behavior. In addition, postrelease behavior varies with fish size. Habitat and space requirements for Northern Pike in the winter can encompass much larger areas and more habitat features than has been previously envisioned.
Multi‐functional magnetic hydrogel: Design strategies and applications
Authors: Gang Fangli , Jiang Le , Xiao Yi , Zhang Jiwen , Sun Xiaodan 
Published: May 2021

AbstractHydrogel is one of the hottest biomaterials in recent years. Especially, magnetic hydrogels (MHs) prepared by combining unique magnetic nanoparticles (MNPs) with hydrogels have attracted wide attention due to their excellent biocompatibility, mechanical properties, absorbability and rich magnetic properties (magnetocaloric, magnetic resonance imaging and intelligent response, etc.). However, the current literature mainly focuses on the application of MHs, without fully understanding the relationship between the design strategies and applications of each function in MHs. This review highlights six major functional properties of MHs, including mechanical properties, adsorption, magnetocaloric effect, magnetic resonance (MR) imaging, intelligent response and biocompatibility. Principles and design strategies of each performance are thoroughly analyzed. Furthermore, the latest applications of MHs in biomedicine, soft actuators, environmental protection, chemistry and engineering in recent 5 years are introduced from the perspective of each function. In the carefully selected representative cases, the design strategies and application principle of multi‐functional MHs are detailed, respectively. The classical fabrication processing of MHs is summarized. At last, we discuss the unmet needs and potential future challenges in MHs development and highlight its emerging strategies.
Hippocampal single‐voxel MR spectroscopy with a long echo time at 3 T using semi‐LASER sequence
Authors: Gajdošík Martin , Landheer Karl , Swanberg Kelley M. , Adlparvar Fatemeh , Madelin Guillaume , Bogner Wolfgang , Juchem Christoph , Kirov Ivan I. 
Published: May 2021

The hippocampus is one of the most challenging brain regions for proton MR spectroscopy (MRS) applications. Moreover, quantification of J‐coupled species such as myo‐inositol (m‐Ins) and glutamate + glutamine (Glx) is affected by the presence of macromolecular background. While long echo time (TE) MRS eliminates the macromolecules, it also decreases the m‐Ins and Glx signal and, as a result, these metabolites are studied mainly with short TE. Here, we investigate the feasibility of reproducibly measuring their concentrations at a long TE of 120 ms, using a semi‐adiabatic localization by adiabatic selective refocusing (sLASER) sequence, as this sequence was recently recommended as a standard for clinical MRS. Gradient offset‐independent adiabatic refocusing pulses were implemented, and an optimal long TE for the detection of m‐Ins and Glx was determined using the T2 relaxation times of macromolecules. Metabolite concentrations and their coefficients of variation (CVs) were obtained for a 3.4‐mL voxel centered on the left hippocampus on 3‐T MR systems at two different sites with three healthy subjects (aged 32.5 ± 10.2 years [mean ± standard deviation]) per site, with each subject scanned over two sessions, and with each session comprising three scans. Concentrations of m‐Ins, choline, creatine, Glx and N‐acetyl‐aspartate were 5.4 ± 1.5, 1.7 ± 0.2, 5.8 ± 0.3, 11.6 ± 1.2 and 5.9 ± 0.4 mM (mean ± standard deviation), respectively. Their respective mean within‐session CVs were 14.5% ± 5.9%, 6.5% ± 5.3%, 6.0% ± 3.4%, 10.6% ± 6.2% and 3.5% ± 1.4%, and their mean within‐subject CVs were 17.8% ± 18.2%, 7.5% ± 6.3%, 7.4% ± 6.4%, 12.4% ± 5.3% and 4.8% ± 3.0%. The between‐subject CVs were 25.0%, 12.3%, 5.3%, 10.7% and 6.4%, respectively. Hippocampal long‐TE sLASER single voxel spectroscopy can provide macromolecule‐independent assessment of all major metabolites including Glx and m‐Ins.
Prevalence of malnutrition risk and acute malnutrition in pediatric population in a tertiary hospital and their burden on healthcare
Authors: Tuokkola Jetta , Heikkilä Anniina , Junttila Kristiina , Orell Helena 
Published: May 2021

AbstractBackgroundMalnutrition is related to an increased rate of complications and prolonged hospital stays. Malnutrition risk screening is recommended for all hospital inpatients, but its applicability as part of routine care is not well known.MethodsThe prevalence of malnutrition risk, measured by the Screening Tool for Risk of Impaired Nutritional Status and Growth (STRONGkids), and acute malnutrition were studied 1 day per year in all pediatric inpatient and day wards in 2015 and 2016 and in inpatients and outpatients in 2017 at a university hospital. Nurses carried out the STRONGkids screening and measured the weight and height of each child, recording the information in the hospital database, where it was subsequently extracted along with data on the child's diagnoses, procedures, and the length and costs of hospital stay.ResultsIn all, 696/1217 patients (57.2%) were screened. Of inpatients and outpatients, 37/398 (9.3%) and 3/298 (1.0%), respectively, were classified as being at high risk of malnutrition. The corresponding figures for those who were acutely malnourished were 18/260 (6.9%) and 11/264 (4.2%). High risk of malnutrition increased the costs and length of hospital stay (P < .05). Dietetic input was involved during hospital stay in 12/37 (32.4%), 32/173 (18.5%), and 13/188 (6.9%) of inpatients at high, moderate, and low risk, respectively (P < .001). Nutrition risk screening did not detect all patients classified as acutely malnourished.ConclusionHospitals need to ensure proper application of nutrition screening, develop a protocol for the care of children at nutrition risk, and monitor the use of this protocol.
Clinician's Guide to Understanding Effect Size, Alpha Level, Power, and Sample Size
Authors: Peterson Sarah J. , Foley Sharon 
Published: May 2021

AbstractEffect size, α level, power, and sample size are misunderstood concepts that play a major role in the design and interpretation of studies. Effect size represents the magnitude of a change in an outcome or the strength of a relationship. Often, the effect size may be more important than just relying on the α level when interpreting results from a study because it informs a researcher of the actual magnitude of the difference or relationship. Confidence intervals can also assist in making this assessment. Power represents the probability of rejecting the null hypothesis when it is false. Effect size, power, and α level are all important in the calculation of sample size needed to conduct a study. Calculating the sample size a priori and including the required number of participants is essential. Studies with small sample sizes, relative to the needed number provided from a power analysis, may lead to false negative results. Studies with grossly large sample sizes may yield statistically significant findings with small effect sizes that may not be clinically relevant. It is beneficial when all four components are clearly presented in analytic studies. Failure to include these elements may limit the ability of other researchers to replicate the study's findings and lead to difficulty when interpreting the study's results.
Nonoverlapping block smoothers for the Stokes equations
Authors: Claus Lisa , Bolten Matthias 
Published: May 2021

AbstractOverlapping block smoothers efficiently damp the error contributions from highly oscillatory components within multigrid methods for the Stokes equations but they are computationally expensive. This paper is concentrated on the development and analysis of new block smoothers for the Stokes equations that are discretized on staggered grids. These smoothers are nonoverlapping and therefore desirable due to reduced computational costs. Traditional geometric multigrid methods are based on simple pointwise smoothers. However, using multigrid methods to efficiently solve more difficult problems such as the Stokes equations leads to computationally more expensive smoothers, for example, overlapping block smoothers. Nonoverlapping smoothers are less expensive, but have been considered less efficient in the literature. In this paper, we develop new nonoverlapping smoothers, the so‐called triad‐wise smoothers, and show their efficiency within multigrid methods to solve the Stokes equations. In addition, we compare overlapping and nonoverlapping smoothers by measuring their computational costs and analyzing their behavior by the use of local Fourier analysis.
Dissemination of newborn behavior observation skills after Newborn Individualized Developmental Care and Assessment Program (NIDCAP) implementation
Authors: Chandebois Laurence , Nogue Erika , Bouschbacher Catherine , Durand Sabine , Masson Florence , Mesnage Renaud , Nagot Nicolas , Cambonie Gilles 
Published: May 2021

AbstractAimTo assess nurses’ ability to observe newborn behaviour after in situ training provided by caregivers with advanced practice certification in the Newborn Individualized Developmental Care and Assessment Program (NIDCAP).DesignProspective observational study.MethodsTwelve nurses viewed 20‐min films showing the behaviour of 10 premature newborns before, during and after the usual caregiving. The behaviour was rated on an observation sheet with 88 items distributed into six systems. The responses were compared to the reference ratings established by two professionals certified for this programme.ResultsDespite less accurate observations during care and for some components, the nurses generally showed a satisfactory ability to observe newborn behaviour after training by NIDCAP expert professionals. The dissemination of observation skills among caregivers may result in an improved quality of patient care and better communication among professionals in a department of neonatology.
Optimal linear‐quadratic‐Gaussian control for discrete‐time linear systems with white and time‐correlated measurement Noises
Authors: Liu Wei , Shi Peng , Xie Xiangpeng , Yue Dong , Fei Shumin 
Published: May 2021

AbstractThis article is concerned with the optimal linear‐quadratic‐Gaussian control problem for discrete‐time linear systems corrupted by white and time‐correlated measurement noises. First, an optimal predictor for the system under consideration is proposed. Then, an optimal controller is designed, which minimizes an expected loss by a control strategy where the control is a function of measurement sequence. The novelty of this article is that a new sequence instead of the original measurement sequence is used to obtain the optimal control scheme where the element in the new sequence is derived from measurement differencing. A verification example is given to illustrate the effectiveness of the developed new design method.
Relationship between microstructure and mechanical properties of polyether block amide foams
Authors: Ernault Estève , Diani Julie , Hallais Simon , Cocquet Clio 
Published: May 2021

AbstractThe mechanical behaviors of five polyether block amide foams, obtained by mold‐opening foam injection process, were investigated with regard to their microstructures. The materials vary in mass ratios of hard versus soft segments, and/or in process packing time. The resulting microstructures have been characterized in terms of cavity size and shape ratios, by analyzing scanning electron microscope images after careful sample preparation. The foam mechanical responses have been characterized in compression at small and large strain. At small strain, the initial linear part of the stress–strain curve is enhanced firstly by the hard segment mass ratio and secondly by the fineness of the microstructure. Similar results have been obtained at large strain. The foam viscoelasticity at large strain has been characterized by stress relaxation and strain recovery tests, relevant for foam applications. Reduced packing time and pressure have been shown to lead to the presence of undesired large cavities. The morphological defects appear to have a negligible impact on the macroscopic mechanical behavior of the foams at infinitesimal strain, but lead to critical inconsistency at large strain. Furthermore, the mechanical behavior of the tested polyether block amide foams is controlled first by hard versus soft segments ratio, and second by the microstructure fineness.