bluuebunny/crossref_metadata_2025_split huggingface dataset:
Les tests et le dépistage génétiques chez les enfants
Authors: Moore Aideen M , Richer Julie 
Published: July 2022

Abstract
Les tests génétiques, qui ont évolué rapidement depuis vingt ans, deviennent monnaie courante en pédiatrie. Le présent document de principes procure un aperçu des récents développements qui peuvent avoir des répercussions sur les tests génétiques chez les enfants. La génétique est un domaine en constante évolution, et le présent document de principes s’attarde tout particulièrement au dépistage néonatal élargi, au séquençage de nouvelle génération, aux découvertes fortuites, aux tests commercialisés directement auprès des consommateurs, aux tests d’histocompatibilité et aux tests génétiques dans le contexte de la recherche.
Protectors as ‘mere toothless tigers’? Advocating in favour of the ‘Wider View’
Authors: Egan Sarah 
Published: July 2022

Abstract
The author considers the varying recent approaches of the High Court of England and Wales, the Royal Court of Jersey, and the Supreme Court of Bermuda in the construction of protectors’ powers to consent to or to veto a proposed distribution. These authorities have been instrumental in delineating the distinction between the ‘Narrower View’ and the ‘Wider View’. The Narrower View only permits the protectors a discretion to bless a valid and rational decision, but not to veto the exercise of powers of trustees. In contrast, the Wider View confers protectors as fiduciaries with an independent decision-making discretion when deciding whether to give their consent to the exercise of powers by the trustees. This article advances arguments in favour of the ‘Wider View’.
Bridge to Health/Puente a la Salud: a pilot randomized trial to address diabetes self-management and social needs among high-risk patients
Authors: Fitzpatrick Stephanie L , Papajorgji-Taylor Dea , Schneider Jennifer L , Lindberg Nangel , Francisco Melanie , Smith Ning , Vaughn Katie , Vrany Elizabeth A , Hill-Briggs Felicia 
Published: July 2022

AbstractSocial needs contribute to persistent diabetes disparities; thus, it is imperative to address social needs to optimize diabetes management. The purpose of this study was to determine determine the feasibility and acceptability of health system-based social care versus social care + behavioral intervention to address social needs and improve diabetes self-management among patients with type 2 diabetes. Black/African American, Hispanic/Latino, and low-income White patients with recent hemoglobin A1C (A1C) ≥ 8%, and ≥1 social need were recruited from an integrated health system. Patients were randomized to one-of-two 6-month interventions: (a) navigation to resources (NAV) facilitated by a Patient Navigator; or (b) NAV + evidence-based nine-session diabetes self-management support (DSMS) program facilitated by a community health worker (CHW). A1C was extracted from the electronic health record. We successfully recruited 110 eligible patients (54 NAV; 56 NAV + DSMS). During the trial, 78% NAV and 80% NAV + DSMS participants successfully connected to a navigator; 84% NAV + DSMS connected to a CHW. At 6-month follow-up, 33% of NAV and 34% of NAV + DSMS participants had an A1C &lt; 8%. Mean reduction in A1C was clinically significant in NAV (−0.65%) and NAV + DSMS (−0.72%). By follow-up, 89% of NAV and 87% of NAV + DSMS were successfully connected to resources to address at least one need. Findings suggest that it is feasible to implement a health system-based social care intervention, separately or in combination, with a behavioral intervention to improve diabetes management among a high-risk, socially complex patient population. A larger, pragmatic trial is needed to test the comparative effectiveness of each approach on diabetes-related outcomes.
Meaning-Centered Psychotherapy for Cancer Caregivers: A pilot trial among caregivers of patients with glioblastoma multiforme
Authors: Applebaum Allison J , Baser Raymond E , Roberts Kailey E , Lynch Kathleen , Gebert Rebecca , Breitbart William S , Diamond Eli L 
Published: July 2022

Abstract
Caregivers of patients with glioblastoma multiforme (GBM) are at significant risk for existential distress. Such distress negatively impacts caregivers’ quality of life and capacity to serve in their role as healthcare proxies, and ultimately, contributes to poor bereavement outcomes. Our team developed Meaning-Centered Psychotherapy for Cancer Caregivers (MCP-C), the first targeted psychosocial intervention that directly addresses existential distress in caregivers. The purpose of this study was to evaluate the feasibility, acceptability, and preliminary effects of MCP-C among caregivers of patients with GBM via a mixed-method pilot trial. Caregivers were randomized to seven sessions of MCP-C or Enhanced Usual Care (EUC), which included distress screening and the provision of targeted referrals and completed quantitative assessments at baseline (T1), after completion of MCP-C (T2), and at 2-month follow-up (T3). A subset of participants engaged in semistructured interviews at T2. Of 60 caregivers randomized, 55 were evaluable for preliminary efficacy analysis. Constrained linear mixed models indicated the MCP-C arm had statistically significant improvement relative to the EUC arm in the primary outcome of personal meaning and multiple secondary outcomes, including benefit finding, depressive symptomatology, and spiritual wellbeing. MCP-C demonstrated preliminary efficacy in facilitating caregivers’ capacity to experience a sense of meaning and purpose despite the challenges and suffering associated with providing care to patients with GBM. Future studies are needed among more diverse samples of caregivers and should include the opportunity for concurrent patient enrollment to allow for a reciprocal and augmented experience of meaning among patient–caregiver dyads.
Prediction of tree sapwood and heartwood profiles using pipe model and branch thinning theory
Authors: Aye Tin Nwe , Brännström Åke , Carlsson Linus 
Published: July 2022

AbstractEstimates of tree heartwood and sapwood profiles are important in the pulp industry and for dynamic vegetation models, in which they determine tree biomechanical stability and hydraulic conductivity. Several phenomenological models of stem profiles have been developed for this purpose, based on assumptions on how tree crown and foliage distributions change over time. Here, we derive estimates of tree profiles by synthesizing a simple pipe model theory of plant form with a recently developed theory of branch thinning that from simple assumptions quantifies discarded branches and leaves. This allows us to develop a new trunk model of tree profiles from breast height up to the top of the tree. We postulate that leaves that are currently on the tree are connected by sapwood pipes, while pipes that previously connected discarded leaves or branches form the heartwood. By assuming that a fixed fraction of all pipes remain on the trunk after a branching event, as the trunk is traversed from the root system to the tips, this allows us to quantify trunk heartwood and sapwood profiles. We test the trunk model performance on empirical data from five tree species across three continents. We find that the trunk model accurately describes heartwood and sapwood profiles of all tested tree species (calibration; R2: 84–99%). Furthermore, once calibrated to a tree species, the trunk model predicts heartwood and sapwood profiles of conspecific trees in similar growing environments based only on the age and height of a tree (cross-validation/prediction; R2: 68–98%). The fewer and often contrasting parameters needed for the trunk model make it a potentially useful complementary tool for biologists and foresters.
The protein C pathways
Authors: Leon Gemma , Rehill Aisling M. , Preston Roger J.S. 
Published: July 2022

Purpose of review
To provide an overview of the state-of-the-art in protein C (PC) pathway research.

Recent findings
The PC pathway is crucial for maintaining hemostasis to prevent venous thromboembolism. This is evident from genetic mutations that result in impaired PC pathway activity and contribute to increased venous thromboembolism risk in affected individuals. In addition to its anticoagulant role, activated PC (APC) also mediates a complex, pleiotropic role in the maintenance of vascular cell health, which it achieves via anti-inflammatory and antiapoptotic cell signaling on endothelial cells. Emerging data have demonstrated that cell signaling by APC, mediated by multiple receptor interactions on different cell types, also confers cytoprotective and anti-inflammatory benefits. Defects in both arms of the PC pathway are associated with increased susceptibility to thrombo-inflammatory disease in various preclinical thrombotic, proinflammatory and neurological disease models. Moreover, recent studies have identified attenuation of anticoagulant PC pathway activity as an exciting therapeutic opportunity to promote hemostasis in patients with inherited or acquired bleeding disorders.

Summary
In this review, we provide an overview of some recent developments in our understanding of the PC pathways.
Endoscopy in Infants With Gastrointestinal Bleeding Has Limited Diagnostic or Therapeutic Benefit
Authors: Bose Paroma , Jacobs Annalise S. , Cordova Jorge Gonzales , Gray Brian W. , Huff Katie A. , Molleston Jean P. 
Published: July 2022

Objectives:
Pediatric gastroenterologists are often consulted to perform diagnostic and therapeutic endoscopy in infants with gastrointestinal bleeding (GIB). The value of endoscopy and risk of complications in this population are not well characterized. We aimed to describe findings and outcomes of infants with GIB who undergo endoscopy.

Methods:
Retrospective, single-center, cohort study of hospitalized infants ≤12 months who underwent esophagogastroduodenoscopy (EGD) and/or colonoscopy/flexible sigmoidoscopy (COL) for GIB. Current procedural technology codes, international classification of diseases codes, and quality control logs identified infants.

Results:
Fifty-six infants were identified from 2008 to 2019 (51.8% female; mean age 161.6 days). Seven endoscopies identified sources of GIB: gastric ulcers, a duodenal ulcer, gastric angiodysplasia, esophageal varices, and an anastomotic ulcer. Three infants underwent therapeutic interventions of banding/sclerotherapy of esophageal varices and triamcinolone injection of an anastomotic ulcer. Six infants underwent abdominal surgery for GIB or suspected intestinal perforation after endoscopy, where a gastric perforation, jejunal perforation at an anastomotic stricture, necrotizing enterocolitis totalis with perforation, Meckel’s diverticulum, and a duodenal ulcer were identified. No source of bleeding was identified surgically in 1 infant with GIB. Respiratory failure, use of vasopressors or octreotide, administration of blood products, and high blood urea nitrogen were associated with increased likelihood of requiring surgery (P < 0.05 for all).

Conclusions:
There was limited utility to performing endoscopy in infants ≤12 months old with clinical GIB. Endoscopy in these sick infants carries risk, and 3 infants in this series presented with a gastrointestinal (GI) perforation shortly after the procedure. These limitations and risks should influence clinical decision-making regarding endoscopy in infants with GIB.
Appraising scattering theories for polycrystals of any symmetry using finite elements
Authors: Huang Ming , Rokhlin Stanislav I. , Lowe Michael J. S. 
Published: July 2022

This paper uses three-dimensional grain-scale finite-element (FE) simulations to appraise the classical scattering theory of plane longitudinal wave propagation in untextured polycrystals with statistically equiaxed grains belonging to the seven crystal symmetries. As revealed from the results of 10 390 materials, the classical theory has a linear relationship with the elastic scattering factor at the quasi-static velocity limit, whereas the reference FE and self-consistent (SC) results generally exhibit a quadratic relationship. As supported by the results of 90 materials, such order difference also extends to the attenuation and phase velocity, leading to larger differences between the classical theory and the FE results for more strongly scattering materials. Alternatively, two approximate models are proposed to achieve more accurate calculations by including an additional quadratic term. One model uses quadratic coefficients from quasi-static SC velocity fits and is thus symmetry-specific, while the other uses theoretically determined coefficients and is valid for any individual material. These simple models generally deliver more accurate attenuation and phase velocity (particularly the second model) than the classical theory, especially for strongly scattering materials. However, the models are invalid for the attenuation of materials with negative quadratic coefficients.
This article is part of the theme issue 'Wave generation and transmission in multi-scale complex media and structured metamaterials (part 1)'.
A Poisson scaling approach to backward wave propagation in a tube
Authors: Chapman C. J. , Sorokin S. V. 
Published: July 2022

A mathematical analysis of wave propagation along an elastic cylindrical tube is presented, with the aim of determining the range of Poisson’s ratio for which backward wave propagation (i.e. at negative group velocity) can occur near the ring frequency. This range includes zero Poisson’s ratio and a surrounding interval of positive and negative values, whose width depends on the thickness of the tube. The whole range of Poisson’s ratio is considered, so that the work applies to modern materials, e.g. composites. All results are presented in simple analytic form by means of a dominant balance in parameter space. The identification of this balance, which is unique, is a main new result in the paper, which makes possible a new type of shell theory based on ‘Poisson scaling’. The mathematical approach is deductive from the equations of motion, rather than being based on kinematic hypotheses. A key finding, accessible via the Poisson scaling, is that the regime of negative group velocities extends to high wavenumbers, while being confined to a narrow band of frequencies. Thus responses localized in space are possible for near-monochromatic forcing, an important fact for nonlinear theories of tube dynamics near the ring frequency.
This article is part of the theme issue ‘Wave generation and transmission in multi-scale complex media and structured metamaterials (part 1)’.
Tensile material instabilities in elastic beam lattices lead to a bounded stability domain
Authors: Bordiga Giovanni , Bigoni Davide , Piccolroaz Andrea 
Published: July 2022

Homogenization of the incremental response of grids made up of
preloaded
elastic rods leads to homogeneous effective continua which may suffer macroscopic instability, occurring at the same time in both the grid and the effective continuum. This instability corresponds to the loss of ellipticity in the effective material and the formation of localized responses as, for instance, shear bands. Using lattice models of elastic rods, loss of ellipticity has always been found to occur for stress states involving compression of the rods, as
usually
these structural elements buckle only under compression. In this way, the locus of material stability for the effective solid is unbounded in tension, i.e. the material is always stable for a tensile prestress. A rigorous application of homogenization theory is proposed to show that the inclusion of sliders (constraints imposing axial and rotational continuity, but allowing shear jumps) in the grid of rods leads to loss of ellipticity in tension so that the locus for material instability becomes
bounded
. This result explains (i) how to design elastic materials subject to localization of deformation and shear banding for all radial stress paths; and (ii) how for all these paths a material may fail by developing strain localization and without involving cracking.

This article is part of the theme issue ‘Wave generation and transmission in multi-scale complex media and structured metamaterials (part 1)’.
Modelling of seismic assessment for large geological systems
Authors: Movchan Igor B. , Yakovleva Alexandra A. , Frid Vladimir , Movchan Alexander B. , Shaygallyamova Zilya I. 
Published: July 2022

A new approach to seismic analysis has been introduced and demonstrated for a sequence of recent seismic events recorded in the Blackpool region of Lancashire, UK. The seismic activity, induced by an industrial hydraulic fracturing at a depth exceeding 2 km, had the extent of registered surface elastic vibrations reaching a distance exceeding 15 km. The analysis is based on the study of elastic fields, three-dimensional extrapolations of the landscape and the novel reconstruction of a three-dimensional digital model of seismic map boundaries and vertical profiles. The verification of the proposed approach is carried out via the comparison with published data of the Blackpool seismic events, combined with the new spectral analysis linked to the identified regions of seismic activity. The latter was accompanied by a finite-element simulation of vibrations for an elastic layer of variable thickness, approximating the test region. The analysis and numerical modelling have demonstrated consistency with the dynamic nature of structural stratification of the geological systems, and in addition, the predictive nature of the modelling work was demonstrated by the comparison of the model eigenmodes with the published parameters of registered earthquakes in the Blackpool area.
This article is part of the theme issue ‘Wave generation and transmission in multi-scale complex media and structured metamaterials (part 1)’.
On the Bövik–Benveniste methodology and related approaches for modelling thin layers
Authors: Baranova S. , Mogilevskaya S. G. 
Published: July 2022

This paper reviews several leading approaches for asymptotic modelling of thin layers in elastostatics and wave propagation phenomena. The issues related to applications of the so-called ‘equivalent’ or ‘effective’ boundary conditions and their interpretations are highlighted. Comparative analysis of asymptotic models is performed for a two-dimensional elastostatic case using a novel complex variables-based modelling tool. Its implementation allows for straightforward derivations of higher order boundary conditions for problems with layers of arbitrary sufficiently smooth curvatures. Explicit expressions for the conditions up to the third order are provided. All models are tested using available benchmark solutions and the solutions for the limiting cases of the layer parameters.This article is part of the theme issue ‘Wave generation and transmission in multi-scale complex media and structured metamaterials (part 1)’.
Lineage-specific, fast-evolving GATA-like gene regulates zygotic gene activation to promote endoderm specification and pattern formation in the Theridiidae spider
Authors: Iwasaki-Yokozawa Sawa , Nanjo Ryota , Akiyama-Oda Yasuko , Oda Hiroki 
Published: July 2022

AbstractBackgroundThe process of early development varies across the species-rich phylum Arthropoda. Owing to the limited research strategies for dissecting lineage-specific processes of development in arthropods, little is known about the variations in early arthropod development at molecular resolution. The Theridiidae spider, Parasteatoda tepidariorum, has its genome sequenced and could potentially to contribute to dissecting early embryonic processes.ResultsWe present genome-wide identification of candidate genes that exhibit locally restricted expression in germ-disc forming stage embryos of P. tepidariorum, based on comparative transcriptomes of isolated cells from different regions of the embryo. A subsequent pilot screen by parental RNA interference identifies three genes required for body axis formation. One of them is a GATA-like gene that has been fast evolving after duplication and divergence from a canonical GATA family gene. This gene is designated fuchi nashi (fuchi) after its knockdown phenotypes, where the cell movement toward the formation of a germ disc was reversed. fuchi expression occurs in cells outside a forming germ disc and persists in the endoderm. Transcriptome and chromatin accessibility analyses of fuchi pRNAi embryos suggest that early fuchi activity regulates chromatin state and zygotic gene activation to promote endoderm specification and pattern formation. We also show that there are many uncharacterized genes regulated by fuchi.ConclusionsOur genome-based research using an arthropod phylogenetically distant from Drosophila identifies a lineage-specific, fast-evolving gene with key developmental roles in one of the earliest, genome-wide regulatory events, and allows for molecular exploration of the developmental variations in early arthropod embryos.
Atypical Polycystic Kidney Disease in Individuals Heterozygous for ALG8 Protein-truncating variants
Authors: Apple Benjamin , Sartori Gino , Moore Bryn , Chintam Kiran , Singh Gurmukteshwar , Mohan Anand Prince , Strande Natasha , Mirshahi Tooraj , Triffo William , Chang Alex 
Published: July 2022

AbstractBackgroundHeterozygous ALG8 variants have previously been associated with polycystic liver disease (PLD) with or without kidney cysts. A clear-cut relationship between application of PKD diagnostic criteria and kidney manifestations of ALG8 variants remains to be described. We therefore sought to determine whether ALG8 protein-truncating variant (PTV) heterozygotes are at increased risk of polycystic kidney disease (PKD).MethodsWe identified participants heterozygous for pathogenic (P) and likely pathogenic (LP) ALG8 (NM_024079.5) PTVs described in ClinVar from the Geisinger-Regeneron DiscovEHR MyCode study, an unselected health system-based cohort linked to electronic health records. ALG8 PTV heterozygotes were matched 1:1 to non-heterozygote family members by age at time of imaging (within 10 years) and sex. Phenotypes were assessed by International Classification of Disease (ICD) codes, chart review, and imaging, which was reviewed by a blinded radiologist. Imaging diagnosis of PKD was defined as ≥4 kidney cysts on an abdominal ultrasound or computed tomography. Secondary outcomes included bilateral renal cysts, and ≥1 liver cyst.ResultsOut of 174,418 participants in MyCode,103 participants (mean age 56.7 years) were heterozygous for an ALG8 P/LP variant: p.Arg364Ter (n=86), p.Arg41Ter (n=7), p.Arg179Ter (n=9), and c.368+2T>G (n=2). None of the ALG8 P/LP variant heterozygotes had an ICD diagnosis of PKD or PLD. Out of 51 participants ≥40 years of age with available imaging, 51% had ≥4 renal cysts and 14% had ≥1 liver cyst. After matching 23 ALG8 P/LP variant heterozygotes with 23 related non-heterozygotes by age and imaging modality, ALG8 P/LP heterozygotes had higher prevalence of 4+ kidney cysts (48% versus 9% in non-heterozygotes; p=0.007) and bilateral kidney cysts (61% vs. 17%; p=0.006).ConclusionsOur study demonstrates that patients heterozygous for ALG8 P/LP variants are at increased risk of PKD on imaging but not by ICD diagnosis codes. Additional studies are needed to determine whether ALG8 P/LP heterozygotes are at increased risk of kidney failure.