Tag: pubmed

Am J Med Genet A. 2024 Oct 19:e63906. doi: 10.1002/ajmg.a.63906. Online ahead of print.

ABSTRACT

Conotruncal heart defects are severe congenital malformations of the outflow tract, including truncus arteriosus (TA) and double-outlet right ventricle (DORV). TA is a severe congenital heart disease (CHD) in which the main arterial outflow tract of the heart fails to separate. We recently reported TMEM260 (NM_017799.4), c.1617del (p.Trp539Cysfs*9), as a major cause of TA in the Japanese population (TMEM260 Keio-Tohoku variant) comparable to the prevalence of the 22q11.2 deletion syndrome, which accounts for 12%-35% of TA. However, no other major causes of TA have not been identified. Here, we report a family that included a TA patient and a DORV patient, harboring the compound heterozygous variants of TMEM260, a 7066-bp deletion encompassing exons 6-7 and c.1393C > T, p.(Gln465*). The allele frequency of the 7066-bp deletion was particularly high in the Japanese population (0.17%). Based on the allele frequency of this deletion and c.1617del (0.36%) in the Japanese population, TMEM260 variants might be associated with more than half of the Japanese patients with TA. This study showed that TMEM260 pathogenic variants might be the most common cause of TA in the Japanese population and could explain the wide spectrum of phenotypes associated with TMEM260-related CHD, including DORV, demonstrating the usefulness of genetic testing in Japanese patients with TA.

PMID:39425509 | DOI:10.1002/ajmg.a.63906

Expert Rev Vaccines. 2024 Jan-Dec;23(1):966-973. doi: 10.1080/14760584.2024.2417393. Epub 2024 Oct 18.

ABSTRACT

OBJECTIVES: It is important to assess healthcare providers (HCPs) knowledge, attitudes, perceptions, and preferences towards new pneumococcal vaccines for adults.

METHODS: HCPs who met eligibility criteria completed an online survey between March – May 2024 that included a discrete choice experiment (DCE) to elicit preferences.

RESULTS: Among 340 participating HCPs, the average age was 44.9 years old, and the majority were male (55.6%), and White (85.3%). Most HCPs reported that they would support (90.3%) and implement (91.5%) a lower age-based recommendation for pneumococcal vaccines (from adults 65+ years to adults 50+ years). A majority of HCPs would offer a supplemental dose of a pneumococcal vaccine to high-risk adults 19-49 years, at-risk or high-risk adults 50-64 years, and adults 65+ years regardless of risk status to increase protection after completing the recommended series. DCE results showed that coverage of pneumococcal pneumonia and invasive pneumococcal disease (IPD) in adults 65+ years were the two most important attributes in evaluating pneumococcal vaccines.

CONCLUSIONS: HCPs preferred a pneumococcal vaccine with increased coverage against pneumococcal pneumonia and IPD, and they supported lowering the age recommendation for pneumococcal vaccination as well as a supplemental vaccine dose to provide additional coverage for adults.

PMID:39425486 | DOI:10.1080/14760584.2024.2417393

Health Serv Res. 2024 Oct 18. doi: 10.1111/1475-6773.14399. Online ahead of print.

ABSTRACT

OBJECTIVE: To examine the association of Medicaid home- and community-based services (HCBS) expenditures on the home care workforce.

DATA SOURCES/STUDY SETTING: We use two national, secondary data sources from 2008 to 2019: state-level Medicaid HCBS expenditures and the American Community Survey, in which we identify direct care workers in the home (i.e., home care workers), defined as nursing, psychiatric, and home health aides or personal care aides working in home health care services, individual and family services, and private households.

STUDY DESIGN: Our key explanatory variable is HCBS expenditures per state per year. To estimate the association between changes in Medicaid HCBS expenditures and the workforce size, hourly wages and hours worked, we use negative binomial, linear, and generalized ordered logit regression, respectively. All models include demographic and socioeconomic characteristics, the number of potential HCBS beneficiaries (individuals with a disability and income under the federal maximum income eligibility limits), indicators for minimum wage and/or overtime protections for direct care workers, wage pass-through policies, and state and year fixed effects.

DATA COLLECTION/EXTRACTION METHODS: We exclude states with incomplete reporting of expenditures.

PRINCIPAL FINDINGS: States’ HCBS expenditures increased between 2008 and 2019 after adjusting for inflation and the number of potential HCBS beneficiaries. Yet, home care workers’ wages remained stagnant at $11-12/h. We find no association between changes in Medicaid HCBS expenditures and wages. For every additional $1 million in Medicaid HCBS expenditures, the expected number of workers increases by 1.2 and the probability of working overtime increased (0.0015% points; p < 0.05). Results are largely robust under multiple sensitivity analyses.

CONCLUSIONS: We find no evidence of a statistically significant relationship between changes in state-level changes in Medicaid HCBS expenditures and worker wages but do find a significant, but small, association with hours worked and workforce size.

PMID:39425476 | DOI:10.1111/1475-6773.14399

J Foot Ankle Res. 2024 Dec;17(4):e12039. doi: 10.1002/jfa2.12039.

ABSTRACT

BACKGROUND: The COVID-19 pandemic had a substantial impact on healthcare systems globally, particularly in the public sector. To address the challenges posed by the pandemic, musculoskeletal (MSK) healthcare providers had to rapidly adopt virtual platforms for delivering care, representing a major shift in how healthcare was delivered.

OBJECTIVE: This manuscript aims to retrospectively evaluate a virtual MSK podiatry service offered by a private provider under a National Health Service commission, in terms of patient access, waiting times and patient-reported pain. This service was developed and implemented in response to the COVID-19 pandemic and the extended waiting times.

METHODS: A retrospective clinical service evaluation was conducted on MSK podiatry services delivered via telephone or virtual consultations. The evaluation covered a cohort of 574 referred patients over a 19-month period (July 2021 to January 2023). It analysed demographic data, initial and final visual analogue pain scores, pathology categories, orthoses prescriptions and exercise rehabilitation plans.

RESULTS: Data from a total of 492 patients (male = 152 and female = 340) were analysed, with 82 patients excluded for non-attendance. The average waiting time from referral-to-first appointment and referral-to-discharge was 35 and 91 days, respectively. Results showed statistically significant improvement (p < 0.001) in the mean visual analogue scale when patients received orthoses with and without a rehabilitation plan (4.12 ± 2.55 and 3.33 ± 2.88, respectively). Most patients (61.5%) were aged 40-69, with “foot pain” being the main reported pathology category. Patients had an average of two appointments. 56.5% of patients remained virtual throughout their journey and were successfully discharged to self-management. 43.9% were discharged to other face-to face services.

CONCLUSIONS: The study provided evidence that the virtual MSK podiatry service achieved a statistically significant reduction in patient-reported pain for various pathologies with reasonable waiting times. The service delivered favourable outcomes and complemented traditional services at a time with limited access due to the COVID-19 pandemic.

PMID:39425474 | DOI:10.1002/jfa2.12039

Phys Rev E. 2024 Sep;110(3-1):034702. doi: 10.1103/PhysRevE.110.034702.

ABSTRACT

Motivated by the variety of applications in which nematic Hele-Shaw flow occurs, a theoretical model for Hele-Shaw flow of a nematic liquid crystal is formulated and analyzed. We derive the thin-film Ericksen-Leslie equations that govern nematic Hele-Shaw flow, and consider two important limiting cases in which we can make significant analytical progress. First, we consider the leading-order problem in the limiting case in which elasticity effects dominate viscous effects, and find that the nematic liquid crystal anchoring on the plates leads to a fixed director field and an anisotropic patterned viscosity that can be used to guide the flow of the nematic. Second, we consider the leading-order problem in the opposite limiting case in which viscous effects dominate elasticity effects, and find that the flow is identical to that of an isotropic fluid and the behavior of the director is determined by the flow. As an example of the insight which can be gained by using the present approach, we then consider the flow of nematic according to a simple model for the squeezing stage of the one-drop-filling method, an important method for the manufacture of liquid crystal displays, in these two limiting cases.

PMID:39425443 | DOI:10.1103/PhysRevE.110.034702

Phys Rev E. 2024 Sep;110(3-1):034133. doi: 10.1103/PhysRevE.110.034133.

ABSTRACT

The sums of position- and momentum-space mutual information measures are used to examine the pairwise and higher-order statistical correlation in the ground states of N-particle coupled oscillators. Analytical expressions for these measures are shown to be related to the logarithmic interaction energies of these states, plus those of mirror states where the intensities of the one- and two-body potentials are interchanged, and the nature of the attractive or repulsive interaction is opposite to that in the original state. The measures separate the contributions from the interactions and those from the effective interactions due to marginalization into different terms. The pairwise mutual information sum is linearly related to the Shannon entropy sum in two particle systems, while the total correlation sum exhibits a similar relationship in three particle ones. In the latter instance, the interaction information sum can be related to entropy differences. This illustrates how entropy sums are connected to correlation measure sums in these systems. All measures approach zero with large N, when the magnitudes of the one- and two-body potentials are fixed. The pair mutual information and total correlation sums decay monotonically with N in the presence of an attractive potential and monotonically increase with a repulsive potential. On the other hand, the interaction information sum exhibits a minimum at small N, with an attractive potential. This is a consequence of the higher-order correlations governing behavior at smaller N while the pairwise ones dominate at larger N. Results are presented when the magnitude of the one-body potential is set to N.

PMID:39425442 | DOI:10.1103/PhysRevE.110.034133

Phys Rev E. 2024 Sep;110(3-1):034130. doi: 10.1103/PhysRevE.110.034130.

ABSTRACT

We study the Bak-Sneppen evolution model on a regular hypercubic lattice in high dimensions. Recent work [Phys. Rev. E 108, 044109 (2023)2470-004510.1103/PhysRevE.108.044109] showed the emergence of the 1/f^{α} noise for the fitness observable with α≈1.2 in one-dimension (1D) and α≈2 for the random neighbor (mean-field) version of the model. We examine the temporal correlation of fitness in 2, 3, 4, and 5 dimensions. As obtained by finite-size scaling, the spectral exponent tends to take the mean-field value at the upper critical dimension D_{u}=4, which is consistent with previous studies. Our approach provides an alternative way to understand the upper critical dimension of the model. We also show the local activity power spectra, which offer insight into the return time statistics and the avalanche dimension.

PMID:39425441 | DOI:10.1103/PhysRevE.110.034130

Phys Rev E. 2024 Sep;110(3-1):034126. doi: 10.1103/PhysRevE.110.034126.

ABSTRACT

We investigate how to count the number of solutions in the Boolean satisfiability (SAT) problem, a fundamental problem in theoretical computer science that has applications in various domains. We convert the problem to a spin-glass problem in statistical physics and approximately compute the entropy of the problem, which corresponds to the logarithm of the number of solutions. We propose a new method for the entropy computing problem based on a combination of the tensor network method and the message-passing algorithm. The significance of the proposed method is its ability to consider the effects of both long loops and short loops present in the factor graph of the SAT problem. We validate the efficacy of our approach using 3-SAT problems defined on the random graphs and structured graphs, and show that the proposed method gives more accurate results on the number of solutions than the standard belief propagation algorithms. We also discuss the applications of our method across a wide range of combinatorial optimization problems.

PMID:39425436 | DOI:10.1103/PhysRevE.110.034126

Phys Rev E. 2024 Sep;110(3-2):035206. doi: 10.1103/PhysRevE.110.035206.

ABSTRACT

Ablator materials used for inertial confinement fusion, such as high-density carbon (HDC) and beryllium, have grain structure which may lead to small-scale density nonuniformity and the generation of perturbations when the materials are shocked and compressed. Here, we use a combination of a linear theory of shock interaction with density nonuniformity [Velikovich et al., Phys. Plasmas 14, 072706 (2007)10.1063/1.2745809] and numerical simulations to study shock interaction with a model representation of HDC grains. While the shock-grain interaction is nonlinear, the linear theory shows some key features of the shock-grain interaction, which also hold for the (nonlinear) simulations. The postshock perturbations are made up of sonic reflections off of grain boundaries and vorticity deposition along them, with the latter dominating the perturbed energy content. The mean (per mass) postshock perturbed kinetic energy decreases with increasing grain size, but energy will be deposited at increasing spatial scale. From the perspective of the postshock perturbed energy, the detailed linear theory largely supports a proposed method [S. Davidovits et al., Phys. Plasmas 29, 112708 (2022)1070-664X10.1063/5.0107534] for deresolving the grains (in a similar grains model) that treats the grains statistically. Our simulation results highlight the influence of thermal conduction on the perturbation dynamics at grain scales.

PMID:39425435 | DOI:10.1103/PhysRevE.110.035206

Phys Rev E. 2024 Sep;110(3-1):034305. doi: 10.1103/PhysRevE.110.034305.

ABSTRACT

Random network models, constrained to reproduce specific statistical features, are often used to represent and analyze network data and their mathematical descriptions. Chief among them, the configuration model constrains random networks by their degree distribution and is foundational to many areas of network science. However, configuration models and their variants are often selected based on intuition or mathematical and computational simplicity rather than on statistical evidence. To evaluate the quality of a network representation, we need to consider both the amount of information required to specify a random network model and the probability of recovering the original data when using the model as a generative process. To this end, we calculate the approximate size of network ensembles generated by the popular configuration model and its generalizations, including versions accounting for degree correlations and centrality layers. We then apply the minimum description length principle as a model selection criterion over the resulting nested family of configuration models. Using a dataset of over 100 networks from various domains, we find that the classic configuration model is generally preferred on networks with an average degree above 10, while a layered configuration model constrained by a centrality metric offers the most compact representation of the majority of sparse networks.

PMID:39425431 | DOI:10.1103/PhysRevE.110.034305