bluuebunny/crossref_metadata_2025_split huggingface dataset:
Functional characterization of variants found in Japanese patients with hereditary hemorrhagic telangiectasia
Authors: Morita Shuhei , Nomura Shunsuke , Azuma Kenko , Chida‐Nagai Ayako , Furutani Yoshiyuki , Inai Kei , Inoue Tatsuya , Niimi Yasunari , Iizuka Yuo , Tsutsumi Yoshiyuki , Ishizaki Reina , Yamagishi Hiroyuki , Kawamata Takakazu , Akagawa Hiroyuki 
Published: January 2024

AbstractHereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant form of vascular dysplasia. Genetic diagnosis is made by identifying loss‐of‐function variants in genes, such as ENG and ACVRL1. However, the causal mechanisms of various variants of unknown significance remains unclear. In this study, we analyzed 12 Japanese patients from 11 families who were clinically diagnosed with HHT. Sequencing analysis identified 11 distinct variants in ACVRL1 and ENG. Three of the 11 were truncating variants, leading to a definitive diagnosis, whereas the remaining eight were splice‐site and missense variants that required functional analyses. In silico splicing analyses demonstrated that three variants, c.526‐3C > G and c.598C > G in ACVRL1, and c.690‐1G > A in ENG, caused aberrant splicing, as confirmed by a minigene assay. The five remaining missense variants were p.Arg67Gln, p.Ile256Asn, p.Leu285Pro, and p.Pro424Leu in ACVRL and p.Pro165His in ENG. Nanoluciferase‐based bioluminescence analyses demonstrated that these ACVRL1 variants impaired cell membrane trafficking, resulting in the loss of bone morphogenetic protein 9 (BMP9) signal transduction. In contrast, the ENG mutation impaired BMP9 signaling despite normal cell membrane expression. The updated functional analysis methods performed in this study will facilitate effective genetic testing and appropriate medical care for patients with HHT.
In vitro pilot study comparing a novel implantoplasty sonic instrumentation protocol with a conventional protocol using burs
Authors: Tsampli Anna , Rues Stefan , Kappel Hannes , Rammelsberg Peter , Kappel Stefanie 
Published: January 2024

AbstractBackground and ObjectivesThe aim of implantoplasty (IP) is to remove titanium implant layers that have been contaminated and to smoothen the implant surfaces so they retain less plaque. However, existing IP methods are very invasive and reduce implant wall thickness.AimTo investigate the suitability of novel sonic tips in IP and to compare this novel protocol with conventional abrasive procedures.Materials and MethodsThirty dental implants (Ø 4.1 mm, 10 mm length) were distributed in three groups and investigated according to the protocol of Sivolella et al., with modifications to the instrument's feed rate, the applied contact force, and the speed of implant rotations per minute. The upper third of the implant was processed with a diamond‐coated bur (BUR) or novel non‐diamond‐coated sonic tips (AIRSCALER). After standardized IP, the surfaces were analyzed by tactile profilometry and scanning electron microscopy (SEM). Changes in implant weight, implant material loss, and implant fracture strength were assessed.ResultsThe mean roughness (Ra, Sa), implant material loss, and change in implant weight were significantly lower in the AIRSCALER group than in the BUR group, whereas the mean compression resistance values were significantly higher in the AIRSCALER group than in the BUR group.ConclusionsIP with uncoated sonic tips smoothes the surfaces and reduces structural loss of the implant in the area of microthreads. This new IP method could be of great clinical importance, especially for implants with microthreads and reduced diameter or wall thickness.
The role of basal insulins in the treatment of people with type 2 diabetes and chronic kidney disease: A narrative review
Authors: Sloan Lance , Cheng Alice Y. Y. , Escalada Javier , Haluzík Martin , Mauricio Didac 
Published: January 2024

AbstractThe majority of cases of chronic kidney disease (CKD) worldwide are driven by the presence of type 2 diabetes (T2D), resulting in an increase in CKD rates over the past few decades. The existence of CKD alongside diabetes is associated with increased burden of cardiovascular disease and increased risk of death. Optimal glycaemic control is essential to prevent progression of CKD, but achieving glycaemic targets in people with CKD and diabetes can be challenging because of increased risk of hypoglycaemia and limitations on glucose‐lowering therapeutic options. This review considers the challenges in management of T2D in people with impaired kidney function and assesses evidence for use of basal insulin analogues in people with CKD.
Hospital admissions from the emergency department of adult patients affected by myopathies
Authors: Monforte Mauro , Torchia Eleonora , Bortolani Sara , Ravera Beatrice , Ricci Enzo , Silvestri Gabriella , Servidei Serenella , Primiano Guido , Mirabella Massimiliano , Sabatelli Mario , Mercuri Eugenio , Franceschi Francesco , Calabresi Paolo , Covino Marcello , Tasca Giorgio 
Published: January 2024

AbstractBackground and purposeMyopathies are associated with classic signs and symptoms, but also with possible life‐threatening complications that may require assistance in an emergency setting. This phenomenon is understudied in the literature. We aimed to assess the presentation, management, and outcomes of clinical manifestations potentially related to a muscle disorder requiring referral to the adult emergency department (ED) and hospitalization.MethodsAnonymized patient data retrieved using the International Classification of Diseases, Ninth Revision codes related to muscle disorders over 4 years were retrospectively analyzed. Medical reports were evaluated to extract demographic and clinical variables, along with outcomes. Two groups were defined based on the presence (known diagnosis [KD] group) or absence (unknown diagnosis [UD] group) of a diagnosed muscle disorder at arrival.ResultsA total of 244 patients were included, 51% of whom were affected by a known myopathy, predominantly limb‐girdle muscular dystrophies and myotonic dystrophies. The main reasons for ED visits in the KD group were respiratory issues, worsening of muscle weakness, and gastrointestinal problems. Heart complications were less prevalent. In the UD group, 27 patients received a new diagnosis of a specific primary muscle disorder after the ED access, mostly an inflammatory myopathy. Death during hospitalization was recorded in 26 patients, with a higher rate in the KD group and in patients affected by mitochondrial and inflammatory myopathies. Sepsis and dyspnea were associated with increased death risk.ConclusionsRespiratory complications are the most common reason for myopathic patients accessing the ED, followed by gastrointestinal issues. Infections are severe threats and, once hospitalized, these patients have relatively high mortality.
Characterizing emergency department and inpatient health care utilization after seizure‐related hospitalization: A retrospective cohort study
Authors: Johnson Kristina L. , Wood Andrew J. , Hsia Renee Y. , Guterman Elan L. 
Published: January 2024

AbstractObjectiveSeizure care is a significant driver of health care costs in both emergency department (ED) and inpatient settings, but the majority of studies have focused on inpatient admissions as the only metric of health care utilization. This study aims to better characterize ED and inpatient encounters among patients with seizure to inform care and policy.MethodsUsing statewide administrative data from the Healthcare Cost and Utilization Project State Inpatient Databases and State Emergency Department Databases from Florida and New York, we identified patients with a seizure‐related index hospitalization between January 1, 2016, and December 31, 2018. Among this cohort, we examined the incidence and characteristics of subsequent acute care visits in the ED and inpatient settings for 365 days after initial hospital discharge.ResultsA total of 54 456 patients had an eligible seizure‐related hospitalization. Patients were 49% female, predominantly White (64%) and non‐Hispanic (84%), and used a public primary payer (68%). There were 36 838 (68%) patients with at least one acute care visit in the year following discharge. Overall, patients had a median of 2 (interquartile [IQR] = 1–5) subsequent acute care visits and the median time to first acute care visit was 53 days (IQR = 15–138). Of the 154 369 subsequent acute care visits, 97 399 (63%) were ED‐only visits, 56 970 (37%) were readmissions, and 37 176 (24%) were seizure‐related. There were 18 786 patients (35%) with four or more acute care visits over 365 days of follow‐up. Patients with four or more visits contributed 84% of acute care visits and 78% of costs after initial hospitalization.SignificanceThe majority of patients hospitalized for seizure return to the ED or hospital at least once in the year after discharge. A small portion of patients account for the majority of ED and inpatient visits as well as health care costs associated with this population, identifying a subgroup of patients who may benefit from improved inpatient and outpatient management.
Principal and independent genomic components of brain structure and function
Authors: Oblong Lennart M. , Soheili‐Nezhad Sourena , Trevisan Nicolò , Shi Yingjie , Beckmann Christian F. , Sprooten Emma 
Published: January 2024

AbstractThe highly polygenic and pleiotropic nature of behavioural traits, psychiatric disorders and structural and functional brain phenotypes complicate mechanistic interpretation of related genome‐wide association study (GWAS) signals, thereby obscuring underlying causal biological processes. We propose genomic principal and independent component analysis (PCA, ICA) to decompose a large set of univariate GWAS statistics of multimodal brain traits into more interpretable latent genomic components. Here we introduce and evaluate this novel methods various analytic parameters and reproducibility across independent samples. Two UK Biobank GWAS summary statistic releases of 2240 imaging‐derived phenotypes (IDPs) were retrieved. Genome‐wide beta‐values and their corresponding standard‐error scaled z‐values were decomposed using genomic PCA/ICA. We evaluated variance explained at multiple dimensions up to 200. We tested the inter‐sample reproducibility of output of dimensions 5, 10, 25 and 50. Reproducibility statistics of the respective univariate GWAS served as benchmarks. Reproducibility of 10‐dimensional PCs and ICs showed the best trade‐off between model complexity and robustness and variance explained (PCs: |rz − max| = 0.33, |rraw − max| = 0.30; ICs: |rz − max| = 0.23, |rraw − max| = 0.19). Genomic PC and IC reproducibility improved substantially relative to mean univariate GWAS reproducibility up to dimension 10. Genomic components clustered along neuroimaging modalities. Our results indicate that genomic PCA and ICA decompose genetic effects on IDPs from GWAS statistics with high reproducibility by taking advantage of the inherent pleiotropic patterns. These findings encourage further applications of genomic PCA and ICA as fully data‐driven methods to effectively reduce the dimensionality, enhance the signal to noise ratio and improve interpretability of high‐dimensional multitrait genome‐wide analyses.
Modelling the probability of meeting IUCN Red List criteria to support reassessments
Authors: Henry Etienne G. , Santini Luca , Butchart Stuart H. M. , González‐Suárez Manuela , Lucas Pablo M. , Benítez‐López Ana , Mancini Giordano , Jung Martin , Cardoso Pedro , Zizka Alexander , Meyer Carsten , Akçakaya H. Reşit , Berryman Alex J. , Cazalis Victor , Di Marco Moreno 
Published: January 2024

AbstractComparative extinction risk analysis—which predicts species extinction risk from correlation with traits or geographical characteristics—has gained research attention as a promising tool to support extinction risk assessment in the IUCN Red List of Threatened Species. However, its uptake has been very limited so far, possibly because existing models only predict a species' Red List category, without indicating which Red List criteria may be triggered. This prevents such approaches to be integrated into Red List assessments. We overcome this implementation gap by developing models that predict the probability of species meeting individual Red List criteria. Using data on the world's birds, we evaluated the predictive performance of our criterion‐specific models and compared it with the typical criterion‐blind modelling approach. We compiled data on biological traits (e.g. range size, clutch size) and external drivers (e.g. change in canopy cover) often associated with extinction risk. For each specific criterion, we modelled the relationship between extinction risk predictors and species' Red List category under that criterion using ordinal regression models. We found criterion‐specific models were better at identifying threatened species compared to a criterion‐blind model (higher sensitivity), but less good at identifying not threatened species (lower specificity). As expected, different covariates were important for predicting extinction risk under different criteria. Change in annual temperature was important for criteria related to population trends, while high forest dependency was important for criteria related to restricted area of occupancy or small population size. Our criteria‐specific method can support Red List assessors by producing outputs that identify species likely to meet specific criteria, and which are the most important predictors. These species can then be prioritised for re‐evaluation. We expect this new approach to increase the uptake of extinction risk models in Red List assessments, bridging a long‐standing research‐implementation gap.
Optimisation of recovery protein hydrolysate from chicken bone by steam explosion strategy and its calcium‐binding capacity and potential pro‐osteogenic activity
Authors: Xu Xiong , Qi Liwei , Li Hongjun , Zhang Chunhui 
Published: January 2024

SummaryThis study aimed to recover protein hydrolysate from chicken bone by steam explosion and investigate its calcium‐binding capacity and potential pro‐osteogenic activity. The results showed that the recovery rate was significantly affected by pressure, time, and filling ratio. The molecular weight distribution and amino acid composition of the protein hydrolysate were also analysed. Furthermore, the protein hydrolysate extracted at 12 min, 1.8 MPa and 40% filling ratio showed well calcium‐binding capacity, and the peptides‐calcium chelate showed good stability at different temperatures. The cell experiment showed that the peptides‐calcium chelate can significantly improve the osteogenic activity of MC3T3‐E1 cells, including the proliferation, differentiation, and mineralisation. In conclusion, the steam explosion was an effective strategy to recover protein hydrolysate with well calcium‐binding capacity and potential pro‐osteogenic activity from chicken bone. This study provided new insights and theoretical bases for the application of steam explosion in extracting protein hydrolysate to improve bone health.
Influence of apple pomace on the oxidation status, fatty acid content, colour stability and microbiological profile of baked meat products
Authors: Kęska Paulina , Wójciak Karolina , Stadnik Joanna , Kluz Maciej Ireneusz , Kačániová Miroslava , Čmiková Natália , Solska Elżbieta , Mazurek Katarzyna 
Published: January 2024

SummaryThe present study analysed the effects of using freeze‐dried apple pomace, i.e. apple peel and pulp, as a component of meat products. The freeze‐dried apple pomace showed a dose‐dependent effect on the pH value of meat products; the pH was lower in products with freeze‐dried apple pomace. The addition of freeze‐dried apple pomace increased the brightness parameter (L*) of baked meat products and decreased the proportion of redness (a*). The plant addition also decreased redness during the refrigerated storage of baked meat products. The use of 0.5% of freeze‐dried apple peel or 1% of freeze‐dried apple flesh was most effective in inhibiting lipid oxidative changes in baked meat products, wherein the TBARS index was reduced by 47.5% and 39.04%, respectively, on the 15th day of refrigerated storage. The addition of freeze‐dried apple pomace also affected the fatty acid profile of the meat products. A higher saturated fatty acid content was recorded in products containing apple pomace (M05 < S05 < S1). The monounsaturated fatty acid level was higher in the variants containing freeze‐dried flesh. Considering the microbiological profile of meat products, the increase in the bacterial content and an increase in the coliform content in variants with apple peel and flesh were observed.
Effect of pre‐treatments on quality and storage stability of turmeric rhizome candy
Authors: Basha Shaik Jakeer , Kaur Kamaljit , Kumar Vikas , Kaur Prabhjot , Rehal Jagbir 
Published: January 2024

SummaryTurmeric rhizome candy, a phytonutrient‐rich shelf‐stable dehydrated and microbiologically stable product was prepared by variation in thermal processing (blanching) and citric acid treatments. It was stored for a period of 90 days and evaluated at an interval of 30 days for chemical, organoleptic, optical, bioactive and textural attributes. FTIR confirmed the significant impact of pre‐treatments on the bioactive compounds of fresh candy. Hardness of the candy increased with decrease in moisture content during storage. Vitamin C, curcumin and total phenols were retained well in the candies up to 90 days of storage study. Addition of citric acid during processing resulted in reduction of hardness and better colour retention. Index of acceptability was maximal for the candy prepared after pre‐treatment T4 (Blanching‐20 min + citric acid 2%). Thus, this investigation can impart the medicinal properties of turmeric in the form of healthy confectionery with good acceptability among consumers.
Discovery of a new tannin compound as an α‐glucosidase inhibitor from Carya cathayensis Sarg. kernels and its inhibitory kinetics
Authors: Zhao Jing , Chen Wenwei , Liu Hua , Zhang Xiaosan , Tao Fei , Jia Zhenbao 
Published: January 2024

SummaryInhibition of α‐glucosidases is recognised as an effective approach towards managing postprandial hyperglycaemia. This study aimed to identify a specific compound in Carya cathayensis Sarg. kernels (CCSKs) exhibiting strong inhibitory activities against α‐glucosidase and elucidate the inhibitory kinetic mechanism. Employing a bioassay‐guided approach, an α‐glucosidase inhibitor was isolated from CCSKs through sequential chromatography protocol involving AB‐8 macroporous adsorptive resin, Sephadex LH‐20 and C18‐reversed phase silica gel. The resulting inhibitor was a novel tannin compound, identified as rugosin C ethyl ester. Rugosin C ethyl ester displayed superior inhibitory activity (IC50 of 2.60 μg/mL) compared to acarbose (IC50 of 105.95 μg/mL). The kinetic analysis indicated that rugosin C ethyl ester had a mixed‐type reversible inhibition against α‐glucosidase. The inhibition constants (Ki and Kis) were determined to be 3.119 and 0.856 μg/mL, respectively. The findings indicated that rugosin C ethyl ester might serve as a promising functional ingredient in low‐glycemic index foods.
The effect of telemedicine on stoma‐related complications in adults with enterostomy: A systematic review and meta‐analysis
Authors: Wei‐ying Zhang , Hui‐ren Zhuang , Hai‐ping Yu , Li‐li Ma 
Published: January 2024

AbstractTo assess the effect of telemedicine on stoma‐related complications in adults with enterostomy, we conducted a meta‐analysis to evaluate the effects of the telemedicine group compared to the usual group. Literature searches were performed in PubMed, Embase, Web of Science, The Cochrane Library, China Biology Medicine (CBM), China National Knowledge Infrastructure (CNKI), WanFang and VIP databases from their inception up to October 2023. Two authors independently screened and extracted data from the included and excluded literature according to predetermined criteria. Data collected were subjected to meta‐analysis using Review Manager 5.3 software. The final analysis included a total of 22 articles, encompassing 2237 patients (telemedicine group: 1125 patients, usual group: 1112 patients). The meta‐analysis results demonstrated that, compared to the usual group, the telemedicine group significantly reduced the overall occurrence of stoma‐related complications, with an odds ratio (OR) of 0.22 (95% CI = 0.15–0.32, p < 0.00001). Furthermore, it resulted in a decrease in stoma complications (OR = 0.27, 95% CI = 0.15–0.47, p < 0.00001) and peristomal complications (OR = 0.25, 95% CI = 0.19–0.34, p < 0.00001). Therefore, the existing evidence suggests that the application of telemedicine can reduce the incidence of stoma and peristomal complications, making it a valuable clinical recommendation.
Can Special Olympics coaches accurately report on the motor competence of children with intellectual disabilities?
Authors: Kavanagh Hayley , Issartel Johann , Meegan Sarah , Manninen Mika 
Published: January 2024

AbstractBackgroundMotor competence is the ability to perform goal directed human movements in a co‐ordinated, accurate and error free manner. The aim of this study was to compare the accuracy of coaches' perceptions of children's motor competence with their actual motor competence.MethodThis study examined the motor competence of children with intellectual disabilities (n = 100) and coaches' perceptions of children's motor competence (n = 10). Participants were assessed using TGMD‐3. Coaches completed an adapted version of the pictorial scale of Perceived Movement Skill Competence.ResultsThe predictive power of coaches perceived motor competence versus children's actual motor competence was assessed.ConclusionsThis research will provide insight for sports organisations to determine whether coaches can accurately report on the motor competence of children with intellectual disabilities.