bluuebunny/crossref_metadata_2025_split huggingface dataset:
Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects
Authors: Werren Elizabeth A , Rodriguez Bey Guillermo , Majethia Purvi , Kaur Parneet , Patil Siddaramappa J , Kekatpure Minal V , Afenjar Alexandra , Qebibo Leila , Burglen Lydie , Tomoum Hoda , Demurger Florence , Duborg Christele , Siddiqui Shahyan , Tsan Yao-Chang , Abdullah Uzma , Ali Zafar , Saadi Saadia Maryam , Baig Shahid Mahmood , Houlden Henry , Maroofian Reza , Padiath Quasar Saleem , Bielas Stephanie L , Shukla Anju 
Published: September 2024

Abstract
Erythrocyte membrane protein band 4.1 like 3 (EPB41L3: NM_012307.5), also known as DAL1, encodes the ubiquitously expressed, neuronally enriched 4.1B protein, part of the 4.1 superfamily of membrane-cytoskeleton adaptors. The 4.1B protein plays key roles in cell spreading, migration and cytoskeletal scaffolding that support oligodendrocyte axon adhesions essential for proper myelination.
We herein describe six individuals from five unrelated families with global developmental delay, intellectual disability, seizures, hypotonia, neuroregression and delayed myelination. Exome sequencing identified biallelic variants in EPB41L3 in all affected individuals: two nonsense [c.466C&gt;T, p.(R156*); c.2776C&gt;T, p.(R926*)] and three frameshift [c.666delT, p.(F222Lfs*46); c.2289dupC, p.(V764Rfs*19); c.948_949delTG, p.(A317Kfs*33)].
Quantitative-real time PCR and western blot analyses of human fibroblasts harbouring EPB41L3:c.666delT, p.(F222Lfs*46) indicated ablation of EPB41L3 mRNA and 4.1B protein expression. Inhibition of the nonsense mediated decay (NMD) pathway led to an upregulation of EPB41L3:c.666delT transcripts, supporting NMD as a pathogenic mechanism. Epb41l3-deficient mouse oligodendroglia cells showed significant reduction in mRNA expression of key myelin genes, reduced branching and increased apoptosis.
Our report provides the first clinical description of an autosomal recessive disorder associated with variants in EPB41L3, which we refer to as EPB41L3-associated developmental disorder (EADD). Moreover, our functional studies substantiate the pathogenicity of EPB41L3 hypothesized loss-of-function variants.
Oral Versus Intravenous Antibiotic Therapy for Staphylococcus aureus Bacteremia or Endocarditis: A Systematic Review and Meta-Analysis of Randomized, Controlled Trials
Authors: Mourad Ahmad , Nwafo Nnamdi , Skalla Lesley , Holland Thomas L , Jenkins Timothy C 
Published: September 2024

Abstract

Background
We conducted a systematic review of randomized, controlled trials (RCTs) to generate more precise estimates of the efficacy and safety of oral versus intravenous antibiotic therapy for Staphylococcus aureus bacteremia or endocarditis.

Methods
MEDLINE, Embase, the Cochrane Library, and Web of Science databases were searched through February 2024. RCTs were included if they compared oral versus intravenous antibiotic therapy for S. aureus bacteremia or endocarditis and appropriately reported outcomes for each group. Risk of bias was assessed using the revised Cochrane tool for assessing risk of bias in randomized trials. Heterogeneity between studies was evaluated with Cochran's Q-statistic and I2 test. Treatment effects were summarized with pooled risk ratios using a random effects model meta-analysis (PROSPERO CRD42024481512).

Results
Only four RCTs met criteria for inclusion in meta-analysis. Among participants assessed for treatment failure, there was no difference between oral and intravenous therapy groups (risk ratio [RR], 0.99; 95% confidence interval [CI], .63–1.57; I2 = 0%). There was also no significant difference in adverse events between oral and intravenous therapy groups (RR, 0.65; 95% CI, .07–5.94; I2 = 74%); however, the confidence interval was wide, and heterogeneity was high.

Conclusions
In this systematic review of RCTs comparing oral with intravenous antibiotic therapy for S. aureus bacteremia or endocarditis, few studies met the eligibility criteria for inclusion. Meta-analysis of these studies suggests that transitioning from intravenous to oral therapy is likely effective in a subgroup of carefully selected patients. Additional randomized trials are necessary before transition to oral therapy can be routinely recommended.
Higher peak height velocity in early maturing girls depends on insulin rather than fat mass or IGF-I
Authors: Sørensen Kaspar , Hagen Casper P , Juul Anders 
Published: September 2024

Abstract

Objective
Age at pubertal onset has decreased over the recent decades. Early maturing girls have longer puberty duration, and higher peak height velocity (PHV) than late maturing girls. To what extent this is generated by increased insulin-like growth factor-I (IGF-I), fat mass, or fasting insulin levels is currently unknown.

Design, setting, participants
A population-based study—part of the COPENHAGEN puberty study—longitudinal part. Eighty-one girls evaluated biannually for a median of 10 (2-15) visits for a total of 815 evaluations.

Methods
Pubertal staging, anthropometric measures, PHV, skin fold thickness (SFT), and IGF-I and fasting insulin levels were measured.

Results
Early maturing girls achieved similar final height compared to late maturing girls (166.1 vs 167.1 cm, P = .36). Early pubertal onset was associated with significantly greater PHV (8.7 vs 7.4 cm/year, P &lt; .001) and a longer puberty duration (age at onset of breast development to age at PHV [1.8 vs 1.1 years, P &lt; .001]) compared with late maturation. After correcting for age at pubertal onset, neither body mass index, SFT, nor IGF-I levels differed between early vs late maturing girls. By contrast, fasting insulin levels were significantly higher in early compared with late maturing girls 1.5, 2.0, and 3.0 years after pubertal onset (all P = .039).

Conclusion
Growth velocity was higher and more prolonged in early compared with late maturing girls and associated with higher insulin levels. Thus, the higher insulin levels may compensate for the shorter total growth period by intensifying the pubertal growth period.

Clinical trial registration number
NCT01411527.
Phosphatidylserine synthase plays a critical role in the utilization of n-alkanes in the yeast Yarrowia lipolytica
Authors: Matsuse Katsuro , Hara Mariho , Iwama Ryo , Horiuchi Hiroyuki , Fukuda Ryouichi 
Published: September 2024

Abstract
The yeast Yarrowia lipolytica can assimilate n-alkane as a carbon and energy source. To elucidate the significance of phosphatidylserine (PS) in the utilization of n-alkane in Y. lipolytica, we investigated the role of the Y. lipolytica ortholog (PSS1) of Saccharomyces cerevisiae PSS1/CHO1, which encodes a PS synthase. The PSS1 deletion mutant (pss1Δ) of Y. lipolytica could not grow on minimal medium in the absence of ethanolamine and choline but grew when either ethanolamine or choline was supplied to synthesize phosphatidylethanolamine and phosphatidylcholine. The pss1Δ strain exhibited severe growth defects on media containing n-alkanes even in the presence of ethanolamine and choline. In the pss1Δ strain, the transcription of ALK1, which encodes a primary cytochrome P450 that catalyses the hydroxylation of n-alkanes in the endoplasmic reticulum, was upregulated by n-alkane as in the wild-type strain. However, the production of functional P450 was not detected, as indicated by the absence of reduced CO-difference spectra in the pss1Δ strain. PS was undetectable in the lipid extracts of the pss1Δ strain. These results underscore the critical role of PSS1 in the biosynthesis of PS, which is essential for the production of functional P450 enzymes involved in n-alkane hydroxylation in Y. lipolytica.
The structural role of Skp1 in the synaptonemal complex is conserved in nematodes
Authors: Kursel Lisa E , Goktepe Kaan , Rog Ofer 
Published: September 2024

Abstract
The synaptonemal complex (SC) is a meiotic interface that assembles between parental chromosomes and is essential for gamete formation. While the dimensions and ultrastructure of the SC are conserved across eukaryotes, its protein components are highly divergent. Recently, an unexpected component of the SC has been described in the nematode Caenorhabditis elegans: the Skp1-related proteins SKR-1/2, which are components of the Skp1, Cullin, F-box (SCF) ubiquitin ligase. Here, we find that the role of SKR-1 in the SC is conserved in Pristionchus pacificus. The P. pacificus Skp1 ortholog, Ppa-SKR-1, colocalizes with other SC proteins throughout meiotic prophase, where it occupies the middle of the SC. Like in C. elegans, the dimerization interface of Ppa-SKR-1 is required for its SC function. A dimerization mutant, ppa-skr-1F105E, fails to assemble SC and produces almost no progeny. Interestingly, the evolutionary trajectory of SKR-1 contrasts with other SC proteins. Unlike most SC proteins, SKR-1 is highly conserved in nematodes. Our results suggest that the structural role of SKR-1 in the SC has been conserved since the common ancestor of C. elegans and P. pacificus, and that rapidly evolving SC proteins have maintained the ability to interact with SKR-1 for at least 100 million years.
Modelling of non-linear elastic constitutive relationship and numerical simulation of rocks based on the Preisach–Mayergoyz space model
Authors: Bai Han , Feng Xuan , Wang Xin , Ding Mengyan , Zheng Xiaoshi 
Published: September 2024

SUMMARY
The existence of pores, cracks and cleavage in rocks results in significant non-linear elastic phenomena. One important non-linear elastic characteristic is the deviation of the stress–strain curve from the linear path predicted by Hooke's law. To provide a more accurate description of the non-linear elastic characteristics of rocks and to characterize the propagation of non-linear elastic waves, we introduce the Preisach–Mayergoyz space model. This model effectively captures the non-linear mesoscopic elasticity of rocks, allowing us to observe the stress–strain and modulus–stress relationships under different stress protocols. Additionally, we analyse the discrete memory characteristics of rocks subjected to cyclic loading. Based on the Preisach–Mayergoyz space model, we develop a new non-linear elastic constitutive relationship in the form of an exponential function. The new constitutive relationship is validated through copropagating acousto-elastic testing, and the experimental result is highly consistent with the data predicted by the theoretical non-linear elastic constitutive relationship. By combining the new non-linear elastic constitutive relationship with the strain–displacement formula and the differential equation of motion, we derive the non-linear elastic wave equation. We numerically solve the non-linear elastic wave equation with the finite difference method and observe two important deformations during the propagation of non-linear elastic waves: amplitude attenuation and dispersion. We also observe wave front discontinuities and uneven energy distribution in the 2D wavefield snapshot, which are different from those of linear elastic waves. We qualitatively explain these special manifestations of non-linear elastic wave propagation.
Factors associated with low health literacy in unpaid caregivers of older people: a systematic review
Authors: Maximiano-Barreto Madson Alan , Alves Ludmyla Caroline de Souza , Monteiro Diana Quirino , Matias Marisa , Montayre Jed , Luchesi Bruna Moretti 
Published: September 2024

Abstract
Health literacy is a public health issue. Unpaid caregivers of older people with low health literacy may have difficulties providing care, exerting a negative impact on the care process. The aim of the present study was to perform a systematic review of the literature on factors associated with low health literacy in unpaid caregivers of older people. Searches for relevant articles were conducted in the Cochrane Library, Embase, LILACS, PubMed and Web of Science databases. A total of 1440 articles were identified, nine of which met the eligibility criteria and were included in the systematic review, which was registered in PROSPERO (CRD42024522986). A total of 2209 unpaid caregivers participated in the studies selected for this review. Most were women (67.2%). The average frequency of inadequate health literacy was 27.1%. Sociodemographic characteristics (i.e. advanced age, low educational level, the female sex), factors related to the care process (i.e. low acculturation, low empowerment, poor ability to read medication package inserts, lower care capacity, greater disease severity, hospitalization of care recipients), cognitive factors and factors related to quality of life/well-being (i.e. less social support, poorer quality of life, greater cognitive impairment, higher levels of burden) were associated with low health literacy. In conclusion, low health literacy in unpaid caregivers of older people is associated with sociodemographic, care-related and cognitive factors as well as factors related to quality of life/well-being. Low health literacy may exert a negative impact on the health of caregivers and, consequently, the quality of care provided to older people.
The impact of confinement on the deformation of an elastic particle under axisymmetric tube flow
Authors: Finney Simon M , G Hennessy Matthew , Münch Andreas , Waters Sarah L 
Published: September 2024

Abstract
We study an elastic particle translating axially along the centre-line of a rigid cylindrical tube filled with a Newtonian viscous fluid. The flow is pressure-driven and an axial body force is applied to the particle. We consider the regime in which the ratio of typical viscous fluid stress to elastic stiffness is small, leading to small elastic strains in the particle. In this case, there is a one-way decoupling of the fluid–structure interaction problem. The leading-order fluid problem is shown to be pressure-driven Stokes flow past a rigid sphere, and is solved using the semi-analytical method of reflections. The traction exerted by the fluid on the particle can be computed and used to formulate a pure solid-mechanics problem for the deformation of the particle, which can be solved analytically. This framework is used to investigate the role of the background flow, an axial body force and the tube wall on the particle’s leading-order translational velocity, resulting deformation and induced solid stress. By considering the first-order fluid problem the next-order correction to the translational velocity of the particle is shown to be zero. Depending on the magnitude of the ratio of applied body force to viscous forces, the particle can either have a bullet-like shape, an anti-bullet shape, or retain its original spherical shape. A non-linear arbitrary Lagrangian-Eulerian finite element implementation is used, in conjunction with various existing results from the literature, to validate the method of reflections solutions and interrogate their range of validity.
Behind the scenes: metagenomic analysis of bacterial communities in sustainable depilation of sheepskin
Authors: Liu Yang , Ong Siew Ling , Gedye Kristene , Truglio Mauro , Prabakar Sujay 
Published: September 2024

Abstract

Aim
The leather industry is embracing eco-friendly technologies for both regulatory compliance and sustainable growth. While enzymatic depilation provides a greener alternative to traditional beamhouse methods, its complexity often leads to higher costs. To address this, we examined the performance of sheepskins' native bacterial flora in acetic acid conditions with low-environmental impact.

Methods and results
Utilizing metagenomic techniques, we analyzed the bacterial community dynamics during the depilation process. This investigation revealed a notable increase in microbial diversity and richness in acetic acid treatments compared to water treatments. At the class level, a post-processing decrease in Gammaproteobacteria dominance was observed, while Actinomycetia numbers surged in the acetic acid group. In contrast, the water group showed an increase in Bacteroidia. Order-level analysis indicated reductions in Pseudomonadales and increases in Actinomycetales with acetic acid treatment, whereas Flavobacteriales was more prevalent in water-treated liquors. At the family level, Moraxellaceae decreased and Micrococcaceae increased in the acetic acid group, in contrast to the marked rise of Weeksellaceae in the water group. Temporal analyses further highlighted the evolving bacterial landscapes under different treatments. Moreover, acetic acid treatment fostered a stable microbial community, beneficial for sustainable leather processing. Functional pathways were predicted using PICRUSt2. It showed that significantly enriched degradation pathways in the water group were less abundant in the acetic acid group, potentially preventing substrate matrix damage during depilation.

Conclusion
The study underscores the transformative potential of acetic acid for the leather industry, offering a pathway to reduce pollution while maintaining economic viability. By enhancing our understanding of microbial interactions during depilation, this study opens avenues for refining these eco-friendly techniques. Our findings advocate for a shift towards greener depilation methods and contribute to the broader dialogue on sustainable manufacturing practices, emphasizing the importance of leveraging indigenous microbial communities for environmental and economic gains.
Duckweed protein as an alternative plant-based protein source for dog and cat dry diets
Authors: Lin Ching-Yen , Kerr Katherine R , Panasevich Matthew R , Daristotle Leighann , Frantz Nolan Z 
Published: September 2024

Abstract
Duckweed has attracted increasing attention as a high-quality and sustainable novel plant-based protein source. However, little research has been conducted in dogs and cats. We evaluated the effects of inclusion of duckweed protein (Lemna; MCSelect; Parabel; Vero Beach, FL) primarily in replacement of pea protein in dog diets at 0%, 5%, and 10% and cat diets at %, 10%, and 15% on stool quality, nutrient digestibility, and palatability. We hypothesized that duckweed protein would be a viable protein source in both dog and cat diets by showing no detriment to nutritional outcomes. All feeding tests were conducted at an independent research facility (Susquehanna, PA). A standard 2-bowl palatability test over a 2-d period was conducted with adult animals (n = 30 each) to determine intake ratio between test diets (duckweed-containing diets) and control diets (0% duckweed protein). Apparent total tract nutrient digestibility was conducted with 18 adult dogs and 21 adult cats (n = 6 to 7 per diet) with 5 d of diet acclimation followed by 5 d of total fecal collection. Stool quality was evaluated on a 1 to 5 scale where 1 = non-formed or diarrhea and 5 = hard, formed. Palatability data were analyzed using paired t-test (daily consumption) and chi-square test (first choice). All other data were analyzed by ANOVA and contrast (SAS version 9.4). For cats, 10% duckweed had greater (P &lt; 0.05) palatability than control, while no difference was observed between 15% duckweed protein and control. For dogs, 5% and 10% duckweed protein had (P &lt; 0.05) lower palatability, demonstrating a preference to control. Both cats and dogs fed duckweed diets had acceptable stool quality (Mean = 3.4 and 3.3, respectively). No detriments in nutrient digestibility were observed in dogs fed 5% and 10% duckweed protein; however, cats fed 10% and 15% duckweed protein had (P &lt; 0.05) lower dry matter, protein, and energy digestibility vs. control. In conclusion, the data collected indicate that duckweed can be a viable replacement for other plant-based proteins in dog diets at inclusion levels up to 10%; more development is needed for duckweed protein inclusion into cat diets.
A microencapsulated blend of botanicals supports weaning piglets during a lipopolysaccharide challenge by modulating liver inflammation and intestinal integrity
Authors: Bonetti Andrea , Tugnoli Benedetta , Ghiselli Federico , Markley Grace , Cooper Elizabeth , Piva Andrea , Stahl Chad H , Grilli Ester 
Published: September 2024

Abstract
This study examined the action of a blend of botanicals (BOT) against lipopolysaccharide (LPS)-induced inflammation on cultured hepatocytes and weaning piglets. In vitro studies examined HepG2 cells treated with BOT and challenged with Escherichiacoli LPS for 8 d. BOT treatment reduced IL-6 concentration in cell culture media across time (P &lt; 0.05) and decreased pro-inflammatory cytokine expression on days 1 and 8 of experiment (TNFα, IL-1β; P &lt; 0.05). BOT also increased the expression of antioxidant enzymes (GPX-2, SOD, CAT) on day 8 (P &lt; 0.05), which was supported by lowered reactive oxygen species concentration after LPS challenge (P &lt; 0.1). The in vivo study was conducted with 72 weaning pigs, allotted into 24 pens and divided into 3 groups: a negative control (CTR−, basal diet), a challenged control (CTR+) that received an intraperitoneal injection of E. coli O55:B5 LPS on days 14 and 16, and a challenged treated group which received a diet containing 1.5 g/kg of microencapsulated BOT (BOT+) for the whole duration of the study. Growth performance was determined weekly and, on days 21 (1 animal per pen) and 28 (remaining animals), pigs were sacrificed to collect liver and jejunal tissues. After the challenge, BOT+ pigs had increased BW on days 21 (P &lt; 0.05) and 28 (P &lt; 0.1) compared to CTR+. Similar improvements in average daily gain and FCR on days 14 to 21 (P &lt; 0.05) and 21 to 28 (P &lt; 0.1) were also seen in BOT+ group. In the liver, compared to CTR+ pigs, BOT+ pigs had downregulated expression of TLR-4, IL-6, IFN-γ on day 21 (P &lt; 0.05), and TLR-4, TNF-α, IL-8 on day 28 (P &lt; 0.05). BOT+ also increased GPX-2 expression on days 21 and 28 (P &lt; 0.05), while also upregulating SOD-1 and SOD-2 on day 21 (P &lt; 0.05) and CAT on day 28 (P &lt; 0.05) compared to CTR+. In the jejunum, BOT+ reduced inflammation by affecting cytokine expression (P &lt; 0.05) and increasing the expression of tight-junction proteins, ZO-1 on day 21 and CLD-1 on day 28 (P &lt; 0.05). Furthermore, BOT+ pigs had lower crypt depth on days 21 (P &lt; 0.1) and 28 (P &lt; 0.05), and increased villi-to-crypt ratio on days 21 and 28 (P &lt; 0.05). By day 28, BOT+ intestinal measurements were restored to values similar to the CTR−. Finally, BOT+ also reduced mast cell activation on day 21 (P &lt; 0.05) compared to CTR+. Considering all the findings, BOT controlled inflammatory activation and oxidative stress in liver cells, enhanced intestinal integrity, and as a result improved the growth performance of weaning piglets challenged with LPS.