bluuebunny/crossref_metadata_2025_split huggingface dataset:
KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature
Authors: Choi Yunha , Choi Jungmin , Do Hyosang , Hwang Soojin , Seo Go Hun , Choi In Hee , Keum Changwon , Choi Jin‐Ho , Kang Minji , Kim Gu‐Hwan , Yoo Han‐Wook , Lee Beom Hee 
Published: December 2022

AbstractBackgroundKBG syndrome is a rare genetic disorder involving macrodontia of the upper central incisors, craniofacial, skeletal, and neurologic symptoms, caused either by a heterozygous variant in ANKRD11 or deletion of 16q24.3, including ANKRD11. Diagnostic criteria were proposed in 2007 based on 50 cases, but KBG syndrome remains underdiagnosed.MethodsWhole exome sequencing (WES) and array comparative genomic hybridization (array CGH) were conducted for genetic analysis and patient phenotypes were characterized based on medical records.ResultsEight patients from seven unrelated families were confirmed with KBG syndrome. All patients (8/8, 100%) had some degree of craniofacial dysmorphism and developmental delay or intellectual disabilities. Triangular face, synophrys, anteverted nostril, prominent ears, long philtrum, and tented upper lip, which are typical facial dysmorphism findings in patients with KBG syndrome, were uniformly identified in the eight patients participating in this study, with co‐occurrence rates of 4/8 (50%), 4/8 (50%), 4/8 (50%), 4/8 (50%), 5/8 (62.5%), and 5/8 (62.5%), respectively. Various clinical manifestations not included in the diagnostic criteria were observed. Six patients had point mutations in ANKRD11, one had an exonic deletion of ANKRD11, and one had a 16q24.3 microdeletion. According to the ACMG guidelines, all mutations were classified as pathogenic. The c.2454dup (p.Asn819fs*1) mutation in Pt 4 was reported previously. The remaining variants (c.397 + 1G>A, c.226 + 1G>A, c.2647del (p.Glu883Argfs*94), and c.4093C>T (p.Arg1365Ter)) were novel.ConclusionThe clinical and molecular features of eight patients from seven unrelated Korean families with KBG syndrome described here will assist physicians in understanding this rare genetic condition.
Branched Chain Amino Acids, New Target of Germinated Brown Rice against Type 2 Diabetes Mellitus: A Randomized Controlled Trial
Authors: Wan Wenting , Jiang Xianchen , Zhao Ruifang , Cai Fenfen , Wu Fan , Hu Yunqi , Zhou Xiaoqin , Liu Zhipeng , Shan Yujuan 
Published: December 2022

ScopeAdequate intake of whole grain foods is beneficial to type 2 diabetes mellitus (T2DM). Whether the preventive effects are related with metabolism of branched‐chain amino acids (BCAAs) is unclear. The study aims to evaluate the effects of germinated brown rice (GBR) intervention on BCAAs metabolism in T2DM patients.Methods and resultsIn this randomized controlled trial, subjects with T2DM are instructed to consume 100 g day−1 GBR (GBR group, n=42) or equal staple food (Control group, n=25) for 3 months. Food frequency questionnaires (FFQ) and serum samples are collected before and after the intervention. In the GBR group, fasting blood glucose (FBG), fasting insulin (FINS), and serum BCAAs are decreased, and islet function is improved (p<0.05). Logistic regression analysis showed that FBG (odds ratios [OR]: 1.55, 95% confidence interval [CI]: 1.01–1.84) and energy (OR: 1.21, 95% CI: 1.09–1.30) are positively associated with serum total BCAAs level, while FINS is negatively associated (OR: 0.20, 95% CI: 0.04–0.88). Simultaneously, the key enzymes of BCAAs decomposition, which promotes glycolysis by activating pyruvate dehydrogenase (PDH), are significantly increased.ConclusionGBR improves the indicators of T2DM patients, and the underlying mechanisms include improving insulin resistance and accelerating catabolism of BCAAs.
Whole‐Genome Transcriptomics of PBMC to Identify Biomarkers of Early Metabolic Risk in Apparently Healthy People with Overweight‐Obesity and in Normal‐Weight Subjects
Authors: Costa Andrea , van der Stelt Inge , Reynés Bàrbara , Konieczna Jadwiga , Fiol Miquel , Keijer Jaap , Palou Andreu , Romaguera Dora , van Schothorst Evert M. , Oliver Paula 
Published: December 2022

ScopePeripheral blood mononuclear cells (PBMC) provide a useful and minimally invasive source of biomarkers. Here to identify PBMC transcriptomic biomarkers predictive of metabolic impairment related to increased adiposity is aimed.Methods and resultsThe study analyzed the global PBMC transcriptome in metabolically healthy (normoglycemic) volunteers with overweight‐obesity (OW‐OB, n = 12), and in subjects with metabolically obese normal‐weight (MONW, n = 5) phenotype, in comparison to normal‐weight (NW, n = 12) controls. The study identifies 1072 differentially expressed genes (DEGs) in OW‐OB versus NW and 992 in MONW versus NW. Hierarchical clustering of the top 100 DEGs clearly distinguishes OW‐OB and MONW from NW. Remarkably, the OW‐OB and MONW phenotypes share 257 DEGs regulated in the same direction. The top up‐regulated gene CXCL8, coding for interleukin 8, with a role in obesity‐related pathologies, is of special interest as a potential marker for predicting increased metabolic risk. CXCL8 expression is increased mainly in the MONW group and correlated directly with C‐reactive protein levels.ConclusionsPBMC gene expression analysis of CXCL8 or a pool of DEGs may be used to identify early metabolic risk in an apparently healthy population regardless of their BMI, i.e., subjects with OW‐OB or MONW phenotype and to apply adequate and personalized nutritional preventive strategies.
Effect of d‐β‐Hydroxybutyrate‐(R)‐1,3 Butanediol on Appetite Regulation in People with Prediabetes
Authors: Liu Yutong , Bharmal Sakina H. , Kimita Wandia , Petrov Maxim S. 
Published: December 2022

ScopeThe main aim of the present study is to study the effect of acute ketosis on parameters of appetite regulation in prediabetes.Methods and resultsThis is a randomized controlled trial registered under ClinicalTrials.gov identifier NCT03889210. After an overnight fast, 18 adults with prediabetes are assigned to consume a ketone monoester (d‐β‐hydroxybutyrate‐(R)‐1,3 butanediol) drink and a placebo drink in cross‐over fashion. Blood samples are collected every 30 min, from baseline to 150 min. Paired t test is used to compare the total area under the curve (AUC) for the changes in parameters of appetite regulation (acylated ghrelin, peptide YY [PYY], and hunger) following both drinks. Significant elevation in blood β‐hydroxybutyrate from 0.2 to 3.5 mmol L−1 (p < 0.001) is achieved within 30 min. Acute ketosis does not result in statistically significant differences in the AUCs for ghrelin, PYY, and hunger.ConclusionAcute ketosis consistently does not affect both objective and subjective parameters of appetite regulation in prediabetes.
Technical note: Noninvasive monitoring of normal tissue radiation damage using spectral quantitative ultrasound spectroscopy
Authors: Rafat Marjan , El Kaffas Ahmed , Swarnakar Ankush , Shostak Anastasia , Graves Edward E. 
Published: December 2022

AbstractBackgroundWhile radiation therapy (RT) is a critical component of breast cancer therapy and is known to decrease overall local recurrence rates, recent studies have shown that normal tissue radiation damage may increase recurrence risk. Fibrosis is a well‐known consequence of RT, but the specific sequence of molecular and mechanical changes induced by RT remains poorly understood.PurposeTo improve cancer therapy outcomes, there is a need to understand the role of the irradiated tissue microenvironment in tumor recurrence. This study seeks to evaluate the use of spectral quantitative ultrasound (spectral QUS) for real time determination of the normal tissue characteristic radiation response and to correlate these results to molecular features in irradiated tissues.MethodsMurine mammary fat pads (MFPs) were irradiated to 20 Gy, and spectral QUS was used to analyze tissue physical properties pre‐irradiation as well as at 1, 5, and 10 days post‐irradiation. Tissues were processed for scanning electron microscopy imaging as well as histological and immunohistochemical staining to evaluate morphology and structure.ResultsTissue morphological and structural changes were observed non‐invasively following radiation using mid‐band fit (MBF), spectral slope (SS), and spectral intercept (SI) measurements obtained from spectral QUS. Statistically significant shifts in MBF and SI indicate structural tissue changes in real time, which matched histological observations. Radiation damage was indicated by increased adipose tissue density and extracellular matrix (ECM) deposition.ConclusionsOur findings demonstrate the potential of using spectral QUS to noninvasively evaluate normal tissue changes resulting from radiation damage. This supports further pre‐clinical studies to determine how the tissue microenvironment and physical properties change in response to therapy, which may be important for improving treatment strategies.
Improved precision of SPECT myocardial blood flow using a net tracer retention model
Authors: Cuddy‐Walsh Sarah G. , deKemp Robert A. , Ruddy Terrence D. , Wells R. Glenn 
Published: December 2022

AbstractBackgroundNoninvasive quantification of absolute myocardial blood flow (MBF) and myocardial flow reserve (MFR) provides incremental benefit to relative myocardial perfusion imaging (MPI) to diagnose and manage heart disease. MBF can be measured with single‐photon emission computed tomography (SPECT) but the uncertainty in the measured values is high. Standardization and optimization of protocols for SPECT MBF measurements will improve the consistency of this technique. One element of the processing protocol is the choice of kinetic model used to analyze the dynamic image series.PurposeThis study evaluates if a net tracer retention model (RET) will provide a better fit to the acquired data and greater test‐retest precision than a one‐compartment model (1CM) for SPECT MBF, with (+MC) and without (‐MC) manual motion correction.MethodsData from previously acquired rest‐stress MBF studies (31 SPECT‐PET and 30 SPECT‐SPECT) were reprocessed ± MC. Rate constants (K1) were extracted using 1CM and RET, +/‐MC, and compared pairwise with standard PET MBF measurements using cross‐validation to obtain calibration parameters for converting SPECT rate constants to MBF and to assess the goodness‐of‐fit of the calibration curves. Precision (coefficient of variation of test re‐test relative differences, COV) of flow measurements was computed for 1CM and RET ± MC using data from the repeated SPECT MBF studies.ResultsBoth the RET model and MC improved the goodness‐of‐fit of the SPECT MBF calibration curves to PET. All models produced minimal bias compared with PET (mean bias < 0.6%). The SPECT‐SPECT MBF COV significantly improved from 34% (1CM+MC) to 28% (RET+MC, P = 0.008).ConclusionThe RET+MC model provides a better calibration of SPECT to PET and blood flow measurements with better precision than the 1CM, without loss of accuracy.
Virtual Analyzers for MI and Density Based on Neural Networks Improved through an Integrated Strategy Involving a Constructive Algorithm and Definition of Initial Weights
Authors: da Silva Adilton Lopes , Fontes Cristiano Hora , Embiruçu Marcelo 
Published: December 2022

AbstractThis work presents the development and validation of two virtual analyzers (density and Melt Index (MI)) for quality monitoring and control of the final product in an industrial unit of Linear Polyethylene (LPE). Both models are based on Feedforward Neural Networks which are improved through a strategy involving the initial estimation of weights and a constructive algorithm to define the number of hidden units. The initialization strategy is based on linearization of the neural model with only one hidden unit (nonlinear model) and subsequent optimization of this model by maximizing its similarity to the standard linear regression model whose solution is obtained analytically. The Initial Neural Model (INM) is then used as a starting point for a gradual increase in the number of hidden units. In a validation test involving MI and density values collected over 2 years of operation, the neural model is able to predict these properties with mean percentage errors equal to 0.81% (MI) and 0.04% (density) and determination coefficients equal to 0.970 (MI) and 0.983 (density). The population coefficient estimated in all tests involving grade transitions (0.96) shows a strong linear correlation between the proposed model and laboratory measurements.
Visual impairment and the need for vision care services amongst older Finnish people receiving home care
Authors: Pesonen Tiina , Saarela Kaisa‐Mari , Falck Aura , Edgren Johanna , Kyngäs Helvi , Siira Heidi 
Published: December 2022

AbstractAimThis study aimed to describe visual performance and the need for vision care services among Finnish older people receiving home care. We evaluated the applicability of the Resident Assessment Instrument of Home Care (RAI HC) in identifying visual impairment (VI) and the need for vision care services among older people.DesignA descriptive quantitative, cross‐sectional design.MethodsVisual impairment and the need for vision care services for older people receiving home care (N = 70) were determined by an optometrist's screening examination and vision assessment by home care workers using the RAI HC instrument. In this study, the definition of visual impairment was visual acuity (VA) <0.63 (logMAR >0.2).ResultsAccording to the distance VA measurements, 41% of the participants showed VI (<0.63) of the better eye, while the RAI HC assessment revealed VI among 36% of the participants. The Kappa value for interrater reliability in classifying VI was 0.137. The optometrist's vision screening examination recognized a previously unknown and unmet need for vision care services more than twice as often as the RAI HC assessment.
An integrative review of resilience among nursing students in the context of nursing education
Authors: Aryuwat Pimwalunn , Asp Margareta , Lövenmark Annica , Radabutr Matanee , Holmgren Jessica 
Published: December 2022

AbstractAimThis integrative review aimed to examine empirical research on resilience among nursing students in the context of nursing education. Resilience helps nursing students handle challenges, such as changing learning styles and experiencing their first clinical practice.DesignAn integrative review.MethodsThe search terms focused on resilience and health in nursing students and nursing education. The database used in this review were CINAHL Plus, PubMed and MEDLINE. The Mixed Methods Appraisal Tool appraised the studies' quality.ResultsThis study explored 52 records and revealed three current research focuses related to nursing students' resilience: (1) the concept and description of resilience, (2) the characteristics affecting resilience and (3) the mediating role of resilience in maintaining holistic health. Recommendations include adding a resilience topic to the nursing curriculum, providing resilience enhancement programs, examining the relationship between resilience and holistic health and exploring the influence of resilience about global health crises.Public ContributionResilience among nursing students plays a vital role in helping them to overcome adversities during their nursing education. Additionally, after graduation, nursing students can continue contributing to society as resilient Registered Nurses in the future.
Factors contributing to chronic obstructive pulmonary disease patients' functional performance: Structural equation modelling based on theory of unpleasant symptoms
Authors: Jun Hye Suk , Kang Younhee 
Published: December 2022

AbstractAimThis study aimed to predict the functional performance of patients with chronic obstructive pulmonary disease by clarifying the relationship among disease severity, uncertainty, social support, symptom experience, coping, and functional performance.DesignA model‐testing design was used.MethodsThe subjects of this study were outpatients with chronic obstructive pulmonary disease who visited the respiratory clinic of a general hospital in Seoul, Korea. The data were collected using validated instruments from July 2018 to April 2019, of which 202 questionnaires in total were used for data analysis. Collected data were analysed by using IBM SPSS v27.0 and Mplus 8.0.ResultsThe severity of the disease, uncertainty, and symptom experience should be reduced to improve the functional performance of chronic obstructive pulmonary disease patients. Furthermore, reduced uncertainty can improve functional performance by reducing symptom experience. Nursing interventions for the improvement of pulmonary function and reduction of symptom experience should be developed.
The effect of age on entheseal changes: A study of modifications at appendicular attachment sites in a large sample of identified human skeletons
Authors: Villotte Sébastien , Santos Frédéric 
Published: December 2022

AbstractEntheseal changes (EC) are frequent in older individuals, and age at death is the main variable explaining the distribution of EC stages in adult skeletal samples. While this is already well known, the underlying process has not been studied in biological anthropology to date. The aim of the article is to describe the relationship between age and stages of EC in detail for 30 appendicular entheses in a large sample of adult skeletons (N = 721) with known age at death and sex, using several statistical tools (such as Spearman's rank correlation coefficients, logistic regression models, adjusted standardized residuals, and generalized odds ratios). The analyses indicate a moderate to strong relationship between age at death and EC for all the appendicular attachment sites, but also striking differences between fibrous and fibrocartilaginous entheseal attachment sites. These differences are discussed in light of the available biomedical data.
National advisory panels for childhood cancer in the United Kingdom: An evaluation of current practice and a best practice statement for the future
Authors: Brown Sarah , Chowdhury Tanzina , Collin Matthew , Grundy Richard G. , Howell Lisa , Ramanujachar Ramya , Rees Helen , Vora Ajay , Gray Juliet C. , Bate Jessica 
Published: December 2022

AbstractBackgroundNational advisory panels (NAPs) have been established for the care of children and young people (CYP) with cancer in the United Kingdom since 2011, with an increase in panel number in recent years. Their practice has not previously been reviewed; therefore, we sought to evaluate the role, practice and impact of six selected NAPs offering expertise in ependymoma, histiocytosis, leukaemia, neuroblastoma, renal tumours and sarcoma.ProcedureThis service evaluation used mixed methodology, including review of NAP documentation, semi‐structured interviews with the NAP chairs and an analysis of the cases referred for discussion.ResultsTotal 1110 referrals were analysed. Results demonstrated the significant scope and amount of work undertaken by the NAPs, largely testament to the commitment of the panel members. Specific roles fulfilled have been highlighted, and NAP recommendations have been shown to influence clinical decision‐making and be implemented in the majority of cases. Despite widespread good practice, areas to address have been identified; these include clarity regarding NAP membership, consistency in recommendations, the consideration of holistic information to promote personalised management and the exploration of wider multidisciplinary team roles.ConclusionsIn the context of increasing demand and the escalating number of NAPs, it is timely to consider how service improvement can be facilitated. Best practice guidelines have been formulated as a product of this study, to promote a sustainable and effective model for NAPs. Review and benchmarking national panel performance against these guidelines will drive high standards of care going forward and they should be embedded as standard practice.
Bending properties and design strength of reconstituted bamboo at different temperatures
Authors: Zhao Kunpeng , Wei Yang , Chen Si , Lin Yu , Huang Linjie 
Published: December 2022

AbstractReconstituted bamboo is a unidirectional fiber adhesive material with strong temperature sensitivity. The bending strength and deformation of reconstituted bamboo beams at different temperatures were measured using a three‐point bending test. At 10°C, 30°C, and 50°C, the samples showed a brittle tensile fracture, simple tensile fracture, and splintering tensile fracture modes respectively, the bending failure pattern of reconstituted bamboo was intensified with increasing temperature. The results show that with increasing temperature, the degree of interlaminar debonding cracking and longitudinal tensile fracture is aggravated, accompanied by shearing. The ultimate bearing capacity of the reconstituted bamboo decreased from 182.25 MPa to 124.89 MPa (a reduction of 31.47%) and the flexural modulus decreased from 11,329.25 MPa to 8679.90 MPa (a reduction of 23.39%) as the temperature increased from 10°C to 50°C. The temperature has little effect on the initial stiffness, and the postelastic stiffness decreases significantly (by 53.01%) with increasing temperature. The thermal softening effect has a significant influence on the plastic behavior of bamboo. A model of the design value of bending strength considering the temperature was established, and the design value of bending strength was evaluated.
Reflecting the energy transition from a European perspective and in the global context—Relevance of solar photovoltaics benchmarking two ambitious scenarios
Authors: Breyer Christian , Bogdanov Dmitrii , Ram Manish , Khalili Siavash , Vartiainen Eero , Moser David , Román Medina Eduardo , Masson Gaëtan , Aghahosseini Arman , Mensah Theophilus N. O. , Lopez Gabriel , Schmela Michael , Rossi Raffaele , Hemetsberger Walburga , Jäger‐Waldau Arnulf 
Published: December 2022

AbstractMultiple energy‐related crises require a fast transition towards a sustainable energy system. The European Green Deal aims for zero CO2 emission by 2050, while accelerating climate change impacts obligate a faster phase‐out of fossil fuels. Energy transition studies for Europe at and near 100% renewable energy are used as a benchmark for two newly introduced scenarios for Europe reaching zero CO2 emissions by 2050 and 2040. A technology‐rich energy system model was applied in hourly resolution for Europe in 20 interconnected regions and in full sector coupling covering all energy demands. The results reveal a cost‐neutral energy transition towards 2050 based on declining levelised cost of electricity and a pathway with 9% higher energy costs leading to 17% lower total CO2 emissions with an accelerated energy transition by 2040. The two scenarios find shares of solar photovoltaic (PV) in total generation of 61%–63% by 2050, the highest ever estimated for Europe, still below the highest global average shares ranging between 75% and 77% form three independent studies. The central energy system components are solar PV, wind power, batteries, electrolysers and CO2 direct air capture for carbon capture and utilisation. The core characteristic of the European energy future may be best described by a power‐to‐X economy, which may evolve on the global scale to a solar‐to‐X economy.