bluuebunny/crossref_metadata_2025_split huggingface dataset:
MRI for the diagnosis of limb girdle muscular dystrophies
Authors: Bolano-Díaz Carla , Verdú-Díaz José , Díaz-Manera Jordi 
Published: August 2024

Purpose of review
In the last 30 years, there have many publications describing the pattern of muscle involvement of different neuromuscular diseases leading to an increase in the information available for diagnosis. A high degree of expertise is needed to remember all the patterns described. Some attempts to use artificial intelligence or analysing muscle MRIs have been developed. We review the main patterns of involvement in limb girdle muscular dystrophies (LGMDs) and summarize the strategies for using artificial intelligence tools in this field.

Recent findings
The most frequent LGMDs have a widely described pattern of muscle involvement; however, for those rarer diseases, there is still not too much information available. patients. Most of the articles still include only pelvic and lower limbs muscles, which provide an incomplete picture of the diseases. AI tools have efficiently demonstrated to predict diagnosis of a limited number of disease with high accuracy.

Summary
Muscle MRI continues being a useful tool supporting the diagnosis of patients with LGMD and other neuromuscular diseases. However, the huge variety of patterns described makes their use in clinics a complicated task. Artificial intelligence tools are helping in that regard and there are already some accessible machine learning algorithms that can be used by the global medical community.
Towards multimodal cognition-based treatment for cognitive impairment in Parkinson's disease: drugs, exercise, non-invasive brain stimulation and technologies
Authors: Mantovani Elisa , Bressan Miriana Maria , Tinazzi Michele , Tamburin Stefano 
Published: August 2024

Purpose of review
Cognitive impairment is one of the most challenging non-motor symptoms of Parkinson's disease (PD) and may occur during all PD stages. There are no established pharmacological treatments for PD-related cognitive impairment, which may be improved by cognition-based interventions (i.e., cognitive stimulation, cognitive training, cognitive rehabilitation). Multimodal cognition-based interventions by adjunctive drugs, exercise, non-invasive brain stimulation and technologies may be effective in PD.

Recent findings
Exercise combined with cognitive training may enhance global, memory, visuospatial and executive functioning, transcranial direct current stimulation delivered alongside cognitive training may improve attention and executive functioning, and exergames, semi-immersive virtual reality (VR) and telerehabilitation plus non-immersive VR combined with cognitive training may ameliorate global and executive functioning in PD patients.

Summary
The evidence reviewed here, despite preliminary, is very encouraging and suggests strong rationale for combining pharmacological and non-pharmacological interventions with cognition-based treatments in PD. To overcome limitations of current studies, we propose some recommendations for future trials on drugs, exercise, non-invasive brain stimulation and technologies combined with cognition-based treatments for cognitive impairment in PD.
Overall constitutive properties of stratified lattices with alternating chirality
Authors: Bacigalupo Andrea , Badino Paolo , Diana Vito , Gambarotta Luigi 
Published: August 2024

The present research focuses on a continuum description of stratified metamaterials achieved through the superposition of layers with alternating chirality. Each layer is constructed as a periodic assembly of centre-symmetric periodic cells, formed by a recurring arrangement of rigid circular discs connected by elastic ligaments. The layers are interconnected through elastic pins passing through the centres of aligned discs, allowing for either restrained or free relative rotation. A micropolar continuum model is used to describe each individual layer. The overall response of the metamaterials to in-plane forces is derived using a multi-field non-local model, expressed in terms of the average and difference of displacement and rotational fields. The overall micropolar and standard (Cauchy) constitutive tensors have been determined in closed form. The validity of the equivalent generalized micropolar model has been confirmed through comparison with discrete Lagrangian solutions of representative examples. In addition, a detailed analysis of a pseudo-indentation test has been carried out.This article is part of the theme issue ‘Current developments in elastic and acoustic metamaterials science (Part 2)’.
Current developments in elastic and acoustic metamaterials science
Authors: Failla Giuseppe , Marzani Alessandro , Palermo Antonio , Russillo Andrea Francesco , Colquitt Daniel 
Published: August 2024

The concept of metamaterial recently emerged as a new frontier of scientific research, encompassing physics, materials science and engineering. In a broad sense, a metamaterial indicates an engineered material with exotic properties not found in nature, obtained by appropriate architecture either at macro-scale or at micro-/nano-scales. The architecture of metamaterials can be tailored to open unforeseen opportunities for mechanical and acoustic applications, as demonstrated by an impressive and increasing number of studies. Building on this knowledge, this theme issue aims to gather cutting-edge theoretical, computational and experimental studies on elastic and acoustic metamaterials, with the purpose of offering a wide perspective on recent achievements and future challenges.
This article is part of the theme issue, ‘Current developments in elastic and acoustic metamaterials science (Part 2)’.
Selective dynamic band gap tuning in metamaterials using graded photoresponsive resonator arrays
Authors: Dal Poggetto V. F. , Urban D. , Nistri F. , Beoletto P. H. , Descrovi E. , Miniaci M. , Pugno N. M. , Bosia F. , Gliozzi A. S. 
Published: August 2024

The introduction of metamaterials has provided new possibilities to manipulate the propagation of waves in different fields of physics, ranging from electromagnetism to acoustics. However, despite the variety of configurations proposed so far, most solutions lack dynamic tunability, i.e. their functionality cannot be altered post-fabrication. Our work overcomes this limitation by employing a photo-responsive polymer to fabricate a simple metamaterial structure and enable tuning of its elastic properties using visible light. The structure of the metamaterial consists of graded resonators in the form of an array of pillars, each giving rise to different resonances and transmission band gaps. Selective laser illumination can then tune the resonances and their frequencies individually or collectively, thus yielding many degrees of freedom in the tunability of the filtered or transmitted wave frequencies, similar to playing a keyboard, where illuminating each pillar corresponds to playing a different note. This concept can be used to realize low-power active devices for elastic wave control, including beam splitters, switches and filters.
This article is part of the theme issue ‘Current developments in elastic and acoustic metamaterials science (Part 2)’.
YTHDF1 mediates translational control by m6A mRNA methylation in adaptation to environmental challenges
Authors: Shi Zhuoyue , Wen Kailong , Zou Zhongyu , Fu Wenqin , Guo Kathryn , Sammudin Nabilah H , Ruan Xiangbin , Sullere Shivang , Wang Shuai , Zhang Xiaochang , Thinakaran Gopal , He Chuan , Zhuang Xiaoxi 
Published: August 2024

AbstractAnimals adapt to environmental challenges with long-term changes at the behavioral, circuit, cellular, and synaptic levels which often require new protein synthesis. The discovery of reversible N6-methyladenosine (m6A) modifications of mRNA has revealed an important layer of post-transcriptional regulation which affects almost every phase of mRNA metabolism and therefore translational control. Manyin vitroandin vivostudies have demonstrated the significant role of m6A in cell differentiation and survival, but its role in adult neurons is understudied. We used cell-type specific gene deletion ofMettl14,which encodes one of the subunits of the m6A methyltransferase, andYthdf1, which encodes one of the cytoplasmic m6A reader proteins, in dopamine D1 receptor expressing or D2 receptor expressing neurons.Mettl14orYthdf1deficiency blunted responses to environmental challenges at the behavioral, cellular, and molecular levels. In three different behavioral paradigms, gene deletion of eitherMettl14orYthdf1in D1 neurons impaired D1-dependent learning, whereas gene deletion of eitherMettl14orYthdf1in D2 neurons impaired D2-dependent learning. At the cellular level, modulation of D1 and D2 neuron firing in response to changes in environments was blunted in all three behavioral paradigms in mutant mice.Ythdf1deletion resembled impairment caused byMettl14deletion in a cell type-specific manner, suggesting YTHDF1 is the main mediator of the functional consequences of m6A mRNA methylation in the striatum. At the molecular level, while striatal neurons in control mice responded to elevated cAMP by increasingde novoprotein synthesis, striatal neurons inYthdf1knockout mice didn’t. Finally, boosting dopamine release by cocaine drastically increased YTHDF1 binding to many mRNA targets in the striatum, especially those that encode structural proteins, suggesting the initiation of long-term neuronal and/or synaptic structural changes. While the m6A-YTHDF1 pathway has similar functional significance at cellular level, its cell type specific deficiency in D1 and D2 neurons often resulted in contrasting behavioral phenotypes, allowing us to cleanly dissociate the opposing yet cooperative roles of D1 and D2 neurons.
Exploring the molecular basis of the genetic correlation between body mass index and brain morphological traits
Authors: Fusco Daniela , Marinelli Camilla , André Mathilde , Troiani Lucia , Noè Martina , Pizzagalli Fabrizio , Marnetto Davide , Provero Paolo 
Published: August 2024

AbstractSeveral studies have demonstrated significant phenotypic and genetic correlations between body mass index (BMI) and brain morphological traits derived from structural magnetic resonance imaging (sMRI). We use the sMRI, BMI, and genetic data collected by the UK Biobank to systematically compute the genetic correlations between area, volume, and thickness measurements of hundreds of brain structures on one hand, and BMI on the other. In agreement with previous literature, we find many such measurements to have negative genetic correlation with BMI. We then dissect the molecular mechanisms underlying such correlations using brain eQTL data and summary-based Mendelian randomization, thus producing an atlas of genes whose genetically regulated expression in brain tissues pleiotropically affects brain morphology and BMI. Fine-mapping followed by colocalization analysis allows, in several cases, the identification of credible sets of variants likely to be causal for both the macroscopic phenotypes and for gene expression. In particular, epigenetic fine mapping identifies variant rs7187776 in the 5′ UTR of theTUFMgene as likely to be causal of increased BMI and decreased caudate volume, possibly through the creation, by the alternate allele, of an ETS binding site leading to increased chromatin accessibility, specifically in microglial cells.
Machine Learning to Predict-Then-Optimize Elective Orthopaedic Surgery Scheduling Improves Operating Room Utilization
Authors: Lex Johnathan R. , Mosseri Jacob , Toor Jay , Abbas Aazad , Simone Michael , Ravi Bheeshma , Whyne Cari , Khalil Elias B. 
Published: August 2024

AbstractObjectiveTo determine the potential for improving elective surgery scheduling for total knee and hip arthroplasty (TKA and THA, respectively) by utilizing a two-stage approach that incorporates machine learning (ML) prediction of the duration of surgery (DOS) with scheduling optimization.Materials and MethodsTwo ML models (for TKA and THA) were trained to predict DOS using patient factors based on 302,490 and 196,942 examples, respectively, from a large international database. Three optimization formulations based on varying surgeon flexibility were compared: Any: surgeons could operate in any operating room at any time, Split: limitation of two surgeons per operating room per day and MSSP: limit of one surgeon per operating room per day. Two years of daily scheduling simulations were performed for each optimization problem using ML-prediction or mean DOS over a range of schedule parameters. Constraints and resources were based on a high-volume arthroplasty hospital in Canada.ResultsThe Any scheduling formulation performed significantly worse than the Split and MSSP formulations with respect to overtime and underutilization (p<0.001). The latter two problems performed similarly (p>0.05) over most schedule parameters. The ML-prediction schedules outperformed those generated using a mean DOS over all schedule parameters, with overtime reduced on average by 300 to 500 minutes per week. Using a 15-minute schedule granularity with a wait list pool of minimum 1 month generated the best schedules.ConclusionAssuming a full waiting list, optimizing an individual surgeon’s elective operating room time using an ML-assisted predict-then-optimize scheduling system improves overall operating room efficiency, significantly decreasing overtime.Highlights-A new approach for elective surgery scheduling was developed combining machine learning prediction of duration of surgery with integer linear programming optimization.-Models developed on six years of prospective multi-institution data and prediction results were used to generate two years of weekly simulated operating room schedules.-Three optimization models with varying levels of surgeon constraint were compared, and the model that optimized an individual surgeon’s wait list performed the best.-Using this approach reduced overtime by 300-500 minutes per week across five operating rooms.
Extended-spectrum beta-lactamases resistance inKlebsiella pneumoniaein sub-Saharan Africa: a systematic review and meta-analysis
Authors: Olaitan Morufat Oluwatosin , Orababa Oluwatosin Qawiyy , Shittu Bushola Rukayya , Oyediran Adams Alabi , Obunukwu Gift Maureen , Arowolo Margaret Toluwalayo , Kade Ayomikun Emmanuel , Yahaya Khalid Ibrahim , Yusuff Rildwan Alaba 
Published: August 2024

SummaryBackgroundExtended-spectrum beta-lactamase (ESBL)-producingKlebsiella pneumoniaeis a critical priority pathogen for which there is a need for new antimicrobials and poses a great public health threat to many parts of the world including sub-Saharan Africa (SSA). This study aims to determine the prevalence of ESBL-resistantK. pneumoniaein SSA and the predominant ESBL genes in the region.MethodsDatabases such as PubMed, Scopus, Web of Science, Africa Journal Online, and Google Scholar were searched for eligible articles based on preset eligibility criteria. After screening of titles, abstracts, and full texts, a meta-analysis using a random-effect model was conducted on the eligible studies to determine the overall and subgroup prevalence of ESBL-producingK. pneumoniaein SSA.FindingsThis meta-analysis included 119 eligible studies from 25 SSA countries in all SSA subregions. The overall prevalence of ESBL-resistantK. pneumoniaein SSA is estimated to be 8·6% [95% CI: 6·4-11]. South Africa (18·5%) and Central Africa (4·6%) subregions have the highest and lowest prevalence of ESBL-producingK. pneumoniaein the region, respectively. Additionally, South Africa (23·3%), Kenya (23%), and Nigeria (11·1%) are countries with the top three prevalence of ESBL-resistantK. pneumoniaein the region. Animal samples were also seen to have the highest prevalence compared to clinical and environmental samples in this study. Lastly, CTX-M-15 was the most reported ESBL gene in SSA.InterpretationAlthough this study reports a low pooled prevalence of ESBL-resistantK. pneumoniaein SSA, some countries in the region have a high burden of this drug-resistant strain. Additionally, some countries in the region lack data on this drug-resistant strain, thus putting other parts of the region at risk due to the porous borders and immigration between the countries in the region.FundingThere was no funding for this study
Mycobacterium tuberculosisinfection in pregnancy: a systematic review
Authors: Morton Alison J. , Mitchell Alexandra Roddy , Melville Richard E. , Hui Lisa , Tong Steven YC , Dunstan Sarah J. , Denholm Justin T. 
Published: August 2024

AbstractPregnancy may be associated with risk of developing tuberculosis (TB) in those infected withMycobacterium tuberculosis(Mtb). The perinatal period could provide opportunities for targeted screening and treatment. This study aims to synthesise published literature onMtbinfection in pregnancy, relating to prevalence, natural history, test performance, cascade of care, and treatment. We searched Ovid MEDLINE, Embase+Embase Classic, Web of Science, and Cochrane Central Register of Controlled Trials (CENTRAL) on October 3, 2023, and 47 studies met the inclusion criteria. The prevalence ofMtbinfection was up to 57.0% in some populations, with rates increasing with maternal age and in women from high TB-incidence settings. Five studies quantified perinatal progression fromMtbinfection to active TB disease, with two demonstrating increased risk compared to non-pregnant populations (IRR 1.3-1.4 during pregnancy and IRR 1.9-2 postpartum). Concordance between Tuberculin Skin Test (TST) and Interferon Gamma-Release Assay (IGRA) ranged from 49.4%-96.3%, with k-values of 0.19-0.56. High screening adherence was reported, with 62.0-100.0% completing antenatal TST and 81.0-100.0% having chest radiograph. Four studies of TB preventative treatment (TPT) did not find a significant association with serious adverse events. The antenatal period could provide opportunities for contextualisedMtbinfection screening and treatment. As women with increased age and from high TB-incidence settings demonstrate higher prevalence and risk of disease, this cohort should be prioritised. TPT appears safe and feasible; however, further studies are needed to optimise algorithms, ensuring pregnant and postpartum women can make evidence-informed decisions for effective TB prevention.
Estimation of age and sex specific Glomerular Filtration Rate in the Abu Dhabi population and its association with mortality and Atherosclerotic cardiovascular outcome. A Retrospective Cohort Study
Authors: AlKetbi Latifa Baynouna , Boobes Yousef , Nagelkerke Nico , Aleissaee Hamda , AlShamsi Noura , AlMansoori Mohammed , Hemaid Ahmed , AlDobaee Muna Jalal , AlAlawi Noura , AlKetbi Rudina Mubarak , Fahmawee Toqa , AlHashaikeh Basil , AlAzeezi AlYazia , Shuaib Fatima , Alnuaimi Jawaher , Mahmoud Esraa , AlAhbabi Nayla , Afandi Bachar 
Published: August 2024

AbstractThe impact of abnormal Glomerular Filtration Rate (eGFR) on various adverse outcomes has been well studied; however, the United Arab Emirates (UAE), like many other regions in the world, remains understudied in this area.MethodThis retrospective cohort study estimates the age and sex-specific Glomerular Filtration Rate (eGFR) in the Abu Dhabi population and its association with mortality and Atherosclerotic cardiovascular (ASCVD) outcomes. The cohort of 8699 participants in a national cardiovascular disease screening from 2011 to 2013. The cohort was reevaluated in 2023 for mortality and cardiovascular outcomes. Reference eGFR percentiles were estimated from subjects without comorbidities using the LMS method.ResultsThe reference percentiles of normal eGFR values showed a marked decrease with age, with small sex differences in the reference percentile distribution. A prognostic definition of renal hyperfiltration (RH) is suggested by the observation that subjects in the 97th percentile had a significantly higher incidence of ASCVD, although not statistically significant, in terms of mortality rate.Older age, female sex, history of ASCVD, history of hypertension, being treated for hypertension, lower diastolic blood pressure, higher systolic blood pressure, lower HDL, higher HA1C, and higher vitamin D were significantly associated with lower eGFR percentiles. Subjects in the two categories within the RH range, the 95th and 97th percentiles, had a significantly higher prevalence of diabetes; they are older smokers with higher BMI, higher HA1C, higher HDL, lower vitamin D, and more likely to be males, with higher physical activity and have a lower prevalence of CHD.ConclusionThe distribution of eGFR by age and sex is valuable for clinical decision-making in Abu Dhabi and likely for the Arab population in general. Although the 95th percentile of eGFR in this cohort showed a higher but nonsignificant risk, the 97th percentile is significantly associated with ASCVD, even more than subjects in the less than 10th eGFR percentile. This study provides important insights into the prevalence and risk factors associated with different eGFR percentiles in the Abu Dhabi population. The findings underscore the need for targeted interventions to address modifiable risk factors and prevent the progression of renal damage in this high-risk population.
Genome-wide association studies foundCCDC7andITGB1associated with diabetic retinopathy
Authors: Cai Tengda , Pan Qi , Tao Yiwen , Yang Luning , Nangia Charvi , Rajendrakumar Aravind L , Huang Yu , Shao Yongqing , Ye Yunyan , Dottorini Tania , Haque Mainul , Palmer Colin NA , Meng Weihua 
Published: August 2024

AbstractPurposeDiabetic retinopathy (DR), a complication affecting the eyes, is associated with diabetes. This study aims to identify genetic variants associated with DR in patients with type 1 diabetes in the UK Biobank cohort (n = 1,004).MethodsA genome-wide association study (GWAS) was conducted to identify significant genetic variants of DR in type 1 diabetes. The findings are set to undergo validation during the replication and meta-analysis stages by using six cohorts: African American, European, FinnGen, GoSHARE, GoDARTS and Caucasian Australians.ResultsIn a locus, top single nucleotide polymorphism (SNP) rs184619214 inCCDC7reached a GWAS significance level (p= 6.38 x 10−9) and rs79853754 inITGB1(p= 3.24 x 10−8), with both genes being adjacent to each other. The SNP-based heritability was estimated to be 31.09%. Rs184619214 was replicated and reached statistical significance (p< 5.0 x 10−8) in the meta-analysis stage. Pathway analysis revealed that ITGB1 is involved in the generation of biomolecules that impact the progression of DR. PheWAS analysis revealed that osteoarthritis (OA) of the hip was significantly associated with most of the SNPs of the locus. Mendelian Randomization further confirmed an association between OA and DR.ConclusionsOur study has identified a novel genomic risk locus associated with DR in type 1 diabetes, located in the intergenic region between theCCDC7andITGB1genes, providing insights for DR researchers.