bluuebunny/crossref_metadata_2025_split huggingface dataset:
Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families
Authors: Zaman Qaiser , Iftikhar Aiman , Rehman Gauhar , Khan Qadeem , Najumuddin  , Jan Amin , Khan Jamshid , Anas Muhammad , Laiba  , Umair Muhammad , Muthaffar Osama Yousef , Abdulkareem Angham Abdulrhman , Bibi Fehmida , Naseer Muhammad Imran , Jelani Musharraf 
Published: April 2023

AbstractBackgroundAutosomal recessive cutis laxa type 2A (ARCL2A; OMIM: 219200) is characterized by neurovegetative, developmental and progeroid elastic skin anomalies. It is caused by biallelic variation in ATPase, H+ transporting V0 subunit A2 (ATP6V0A2; OMIM: 611716) located on chromosome 12q24.31. Autosomal recessive cutis laxa type 3A (ARCL3A; OMIM: 219150) is another subclinical type characterized by short stature, ophthalmological abnormalities and a progeria‐like appearance. The ARCL3A is caused by loss of function alterations in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1; OMIM: 138250) gene located at chromosome 10q24.1.MethodsWhole‐exome sequencing (WES), and Sanger sequencing were performed for molecular diagnosis. 3D protein modeling was performed to investigate the deleterious effect of the variant on protein structure.ResultsIn this study, clinical and molecular diagnosis were performed for two families, ED‐01 and DWF‐41, which displayed hallmark features of ARCL2A and ARCL3A, respectively. Three affected individuals in the ED‐01 family (IV‐4, IV‐5 and V‐3) displayed sagging loose skin, down‐slanting palpebral fissures, excessive wrinkles on the abdomen, hands and feet, and prominent veins on the trunk. Meanwhile the affected individuals in the DWF‐41 family (V‐2 and V‐3) had progeroid skin, short stature, dysmorphology, low muscle tone, epilepsy, lordosis, scoliosis, delayed puberty and internal genitalia. WES in the index patient (ED‐01: IV‐4) identified a novel homozygous deletion (NM_012463.3: c.1977_1980del; p.[Val660LeufsTer23]) in exon 16 of the ATP6V0A2 while in DWF‐41 a novel homozygous missense variant (NM_001323413.1:c.1867G>A; p.[Asp623Asn]) in exon 15 of the ALDH18A1 was identified. Sanger validation in all available family members confirmed the autosomal recessive modes of inheritances in each family. Three dimensional in‐silico protein modeling suggested deleterious impact of the identified variants. Furthermore, these variants were assigned class 1 or “pathogenic” as per guidelines of American College of Medical Genetics 2015. Screening of ethnically matched healthy controls (n = 200 chromosomes), excluded the presence of these variations in general population.ConclusionsTo the best of our knowledge, this is the first report of ATP6V0A2 and ALDH18A1 variations in the Pakhtun ethnicity of Pakistani population. The study confirms that WES can be used as a first‐line diagnostic test in patients with cutis laxa, and provides basis for population screening and premarital testing to reduce the diseases burden in future generations.
Potential applications of Aggregation Induced Emission active heterocyclic compounds
Authors: Soltan Fady Youssef Fathy , Sayed Mostafa , Tawab Mohamed Abdul , Talloj Satish Kumar , Kamal El‐dean Adel M. , Tolba Mahmoud S. , Saddik Abdelreheem Abdelfatah 
Published: April 2023

AbstractHeterocyclic compounds are used as a basic structural tool in medicinal chemistry and are very essential in our daily life. A wide range of heterocyclic compounds were reported to show in the literature with interesting biological and pharmacological properties. In their profound study on a series of several heterocyclic compounds shown to have bio applications, unfortunately, the aromatic π‐conjugated heterocyclic molecules quench the emission intensity due to aggregation caused quenching due to π–π stacking. Owing to the disadvantages, the design and function of aggregation‐induced emission (AIE) active heterocyclic materials were emerging abundantly. On the other note, AIE has often been used to further improve both the emission intensity and stability of compounds, with plenty of potential applications in chemical sensing and bioimaging. In this work, we comprehensively reviewed the recent progress in heterocyclic compounds with AIE characteristics that are effectively used in chemo‐selective and bio‐imaging or as highly selective sensors.
Value of Radiomic Analysis Combined With Diffusion Tensor Imaging in Early Diagnosis of HIV‐Associated Neurocognitive Disorders
Authors: Qi Yu , Wang Wei , Rao Bo , Yang Xue , Yu Wen , Li Jia‐ying , Sun Zhi‐chao , Zhou Feini , Li Yuan‐zhe , Guo Yi‐fan , Wang Yi , Li Hong‐jun 
Published: April 2023

BackgroundThe combination of radiomics and diffusion tensor imaging (DTI) may have potential clinical value in the early stage of HIV‐associated neurocognitive disorders (HAND).PurposeTo investigate the value of DTI‐based radiomics in the early stage of HAND in people living with HIV (PLWH).Study TypeRetrospective.PopulationA total of 138 male PLWH were included, including 68 with intact cognition (IC) and 70 with asymptomatic neurocognitive impairment (ANI). Seventy healthy controls (HCs) were recruited for tract‐based spatial statistics (TBSS) analysis. All PLWHs were randomly divided into training and validation cohorts at a 7:3 ratio.Field Strength/SequenceA 3 T, single‐shot spin–echo echo planar imaging (EPI).AssessmentThe differences between the PLWH groups were compared using TBSS and region of interest (ROI) analysis. Radiomic features were extracted from the corpus callosum (CC) on DTI postprocessed images, including fractional anisotropy (FA), axial diffusivity (AD), mean diffusivity (MD), and radial diffusivity (RD). The performance of the radiomic signatures was evaluated by ROC curve analysis. The radiomic signature with the highest area under the curve (AUC) was combined with clinical characteristics to construct a nomogram. Decision curve analysis (DCA) was performed to evaluate the ability of different methods in discriminating ANI.Statistical TestsChi‐square test, independent‐samples t test, Kruskal–Wallis test, Mann–Whitney U test, threshold‐free cluster enhancement (TFCE), ROC curve analysis, DCA, multivariate logistic regression analysis, Hosmer–Lemeshow test. P < 0.05 with TFCE corrected and P < 0.0001 without TFCE corrected were considered statistically significant.ResultsThe ANI group showed lower FA and higher AD than the IC group. In the validation cohort, the AUCs of the FA‐, AD‐, MD‐ and RD‐based radiomic signatures and the clinicoradiomic nomogram were 0.829, 0.779, 0.790, 0.864, and 0.874, respectively. DCA revealed that the nomogram was of greater clinical value than TBSS analysis, the clinical models, and the RD‐based radiomic signature.Data ConclusionThe combination of DTI and radiomics is correlated with early stage of HAND in PLWH.Evidence Level3.Technical EfficacyStage 2.
Percutaneouse ultrasound‐guided needle aspiration for management of breast abscesses – a review
Authors: Ghunaim Hadeel 
Published: April 2023

AbstractBreast abscesses are still a common cause of morbidity among lactational females. Over the years, there has been an increase in the incidence of non‐lactational breast abscesses and a decrease in lactational breast abscesses. The management could be the use of the conventional method of surgical incision and drainage or the newer techniques of needle aspiration or suction drain or catheter in addition to the administration of antibiotics. The use of needle aspiration as the minimal‐invasive conservative technique is generally recommended for abscesses less than 3–5 cm in diameter. However, recent studies have compared the two methods for abscesses larger than 3 cm and among patients with risk factors for breast abscesses. We aim to present the clinical evidence showing the comparison between needle aspiration and incision and drainage for breast abscesses irrespective of the size of the abscesses. There is a lack of comparative information on the two treatment modalities for breast abscesses larger than 3 cm in diameter; however, needle aspiration is being tried because of its advantages like cosmetic preference, short hospital stay and healing time, and no stoppage of breastfeeding.
Secular changes (1826–2021) of human thermal stress according to UTCI in Kraków (southern Poland)
Authors: Błażejczyk Krzysztof , Twardosz Robert 
Published: April 2023

AbstractThe set of meteorological data from the Jagiellonian University station in Kraków is one of the longest‐recorded in central Europe. Measurement records date back to 1826. Based on the average monthly values of air temperature, total cloudiness, water vapour pressure and wind speed at 1200 UTC, the UTCI values were calculated and the occurrence of cold stress (UTCI < −13°C) and heat stress (UTCI > 32°C) was estimated. The variability of the applied measures of thermal stress conditions was studied both annually and in individual seasons (MAM, JJA, SON, DJF). Statistically significant changes in the studied characteristics of the bioclimate were found. Average annual UTCI values increased at the rate of 0.27°C/10 years. In individual seasons, the trend of UTCI changes ranged from 0.10°C/10 years in summer to 0.43°C/10 years in winter. The number of days with cold stress decreased by 1.8 days/10 years and the number of days with heat stress significantly increased (0.5 days/10 years). Two subperiods with different trends of changes were determined. The first covers the years 1826–1940, and the second, 1941–2021. The former indicates a negative UTCI trend of −0.17°C/10 years, and the latter, an increasing trend of 1.09°C/10 years. The last eight decades have brought a decrease in cold days of 6.5/10 years and an increase in heat days of 2.6/10 years.
Liming and micronutrient application improves soil properties and productivity of the groundnut‐rapeseed cropping system in an acidic Inceptisol of India's eastern Himalayas
Authors: Das Santanu , Das Anup , Idapuganti Ramkrushna Gandhiji , Layek Jayanta , Thakuria Dwipendra , Sarkar Dibyendu , Bhupenchandra Ingudam , Lal Rattan , Chowdhury Samik , Babu Subhash , Debbarma Kabir 
Published: April 2023

AbstractAluminum toxicity, nutrient imbalance, and reduced microbial activity are the most limiting factors for optimum agronomic productivity in acid soils. A field study was conducted to investigate the impact of micronutrient and liming on soil properties and productivity of groundnut‐rapeseed system in an acidic Inceptisol. The impact of six micronutrient (control or no micronutrient, Zn at 5 kg ha−1, B at 1 kg ha−1, Mo at 0.5 kg ha−1, Zn + Mo, and Zn + B + Mo) and two soil amendment (furrow liming at 500 kg ha−1and no lime addition) treatments were first tested in groundnut and theirs residual effects were assessed on soil properties of succeeding rapeseed crop. Results indicated that liming significantly improved soil pH, soil organic carbon (SOC), available N, P and K, and diethylene triamine penta acetate (DTPA)‐extractable micronutrients, soil microbial biomass C and dehydrogenase activity as compared to no‐lime. After harvesting groundnut, Mo + Zn + B treated plots maintained the highest SOC content, whereas sole B and Mo treatment had the highest SOC content after harvesting rapeseed. Further, Mo + Zn + B treated plots showed higher contents of soil DTPA‐extractable micronutrients as compared to others. The highest groundnut equivalent yield (GEY) of the cropping system (pooled data of 2 years) was obtained with Mo + Zn + B (2.12 Mg ha−1) but remained at par with Zn + Mo (2.02 Mg ha−1). Multivariate principal component analysis indicated that available P was the most prominent soil nutrient with a strong effect on GEY. The results indicated that integrated application of Zn + B + Mo along with liming improves soil properties and agronomic productivity of groundnut‐rapeseed cropping system.
Epsin Mimetic UPI Peptide Delivery Strategies to Improve Endothelization of Vascular Grafts
Authors: Changizi Shirin , Sameti Mahyar , Bazemore Gabrielle L. , Chen Hong , Bashur Chris A. 
Published: April 2023

AbstractEndothelialization of engineered vascular grafts for replacement of small‐diameter coronary arteries remains a critical challenge. The ability for an acellular vascular graft to promote endothelial cell (EC) recruitment in the body would be very beneficial. This study investigated epsins as a target since they are involved in internalization of vascular endothelial growth factor receptor 2. Specifically, epsin‐mimetic UPI peptides are delivered locally from vascular grafts to block epsin activity and promote endothelialization. The peptide delivery from fibrin coatings allowed for controlled loading and provided a significant improvement in EC attachment, migration, and growth in vitro. The peptides have even more important impacts after grafting into rat abdominal aortae. The peptides prevented graft thrombosis and failure that is observed with a fibrin coating alone. They also modulated the in vivo remodeling. The grafts are able to remodel without the formation of a thick fibrous capsule on the adventitia with the 100 µg mL−1 peptide‐loaded condition, and this condition enabled the formation of a functional EC monolayer in the graft lumen after only 1 week. Overall, this study demonstrated that the local delivery of UPI peptides is a promising strategy to improve the performance of vascular grafts.
Molecular mechanisms and therapeutic perspectives of peroxisome proliferator‐activated receptor α agonists in cardiovascular health and disease
Authors: Pu Yujie , Cheng Chak Kwong , Zhang Hongsong , Luo Jiang‐Yun , Wang Li , Tomlinson Brian , Huang Yu 
Published: April 2023

AbstractThe prevalence of cardiovascular disease (CVD) has been rising due to sedentary lifestyles and unhealthy dietary patterns. Peroxisome proliferator‐activated receptor α (PPARα) is a nuclear receptor regulating multiple biological processes, such as lipid metabolism and inflammatory response critical to cardiovascular homeostasis. Healthy endothelial cells (ECs) lining the lumen of blood vessels maintains vascular homeostasis, where endothelial dysfunction associated with increased oxidative stress and inflammation triggers the pathogenesis of CVD. PPARα activation decreases endothelial inflammation and senescence, contributing to improved vascular function and reduced risk of atherosclerosis. Phenotypic switch and inflammation of vascular smooth muscle cells (VSMCs) exacerbate vascular dysfunction and atherogenesis, in which PPARα activation improves VSMC homeostasis. Different immune cells participate in the progression of vascular inflammation and atherosclerosis. PPARα in immune cells plays a critical role in immunological events, such as monocyte/macrophage adhesion and infiltration, macrophage polarization, dendritic cell (DC) embedment, T cell activation, and B cell differentiation. Cardiomyocyte dysfunction, a major risk factor for heart failure, can also be alleviated by PPARα activation through maintaining cardiac mitochondrial stability and inhibiting cardiac lipid accumulation, oxidative stress, inflammation, and fibrosis. This review discusses the current understanding and future perspectives on the role of PPARα in the regulation of the cardiovascular system as well as the clinical application of PPARα ligands.
New insights into X‐linked adrenal hypoplasia congenita from a novel splice‐site variant of NR0B1 and adrenal CT images
Authors: Jiang Yuqing , Peng Huifang , Zhao Rui , Chang Yina , Liu Jie , Fu Liujun , Li Liping , Ma Yujin , Li Wei , Jiang Hongwei 
Published: April 2023

AbstractBackgroundX‐linked adrenal hypoplasia congenita (AHC) is a rare disorder, often manifesting as primary adrenal insufficiency (PAI) and hypogonadotropic hypogonadism (HH), and caused by variants of NR0B1, most of which are frame‐shifting variants, and few splice‐site variants.Methods and ResultsHere, a novel splice‐site variant of NR0B1 (NM_000475.4), c.1169‐2A>T (patient 1), and a stop‐loss variant of NR0B1 c.1411T>C (patient 2) are described in this study. We perform minigene assays for the splice‐site variant (c.1169‐2A>T) and determine that the variant causes exon 2 skipping. Moreover, the defect of NR0B1 protein may bring about the severe phenotype of the patient. Through 8 years of follow‐up, we compare the CT images from 8 years ago with the latest image, and observe the CT image change of adrenal in patient 2 (from the increased thickness of adrenal to adrenal atrophy).ConclusionX‐linked adrenal hypoplasia congenita is produced by variants of NR0B1. We report a case that presents a novel splice‐site variant, which has been verified that it could lead to the exon 2 skipping in the RNA splicing progress. Moreover, we report the adrenal CT image change of patient 2, which has never been referred to before, and expand the spectrum of X‐linked AHC characteristics.
Regular Consumption of Biovalorized Okara‐Containing Biscuit Improves Circulating Short‐Chain Fatty Acids and Fecal Bile Acids Concentrations by Modulating the Gut Microbiome: A Randomized Controlled Crossover Trial
Authors: Lee Delia Pei Shan , Gan Alicia Xinli , Xia Xue Juan , Toh Kate Qi Xuan , Chan Gregory , Jung Sangyong , Kim Jung Eun 
Published: April 2023

ScopeOkara is a fiber‐rich food by‐product whereby biovalorization with Rhizopus oligosporus can improve its nutritional quality, generating fermentable substrates for improved gut health maintenance. This study evaluates the impact of okara‐ and biovalorized okara‐containing biscuits consumption on gut health in Singapore adults.Methods and resultsParticipants consume control (C), 20% flour‐substituted okara (AOK), and 20% flour‐substituted biovalorized okara (RO) biscuits for three weeks, with assessment of gut metabolites, microbiome, and dietary intake. Fecal valeric acid is significantly higher with RO compared to AOK (p = 0.005). RO and AOK have significantly higher total serum short‐chain fatty acids (p = 0.002 and 0.018 respectively) and acetic acid (p = 0.007 and 0.030 respectively) compared to C. Higher serum propionic acid (p = 0.004) and lower fecal lithocholic acid (p = 0.009) are observed with RO. Although serum zonulin shows no significant difference amongst interventions, AOK reduces Clostridiales while RO increases Bifidobacterium.ConclusionOkara consumption improves serum SCFA regardless of fermentation while biovalorized okara further enhances gut metabolites by modulating gut microbiome.
Efficacy and Optimal Dose of Coenzyme Q10 Supplementation on Inflammation‐Related Biomarkers: A GRADE‐Assessed Systematic Review and Updated Meta‐Analysis of Randomized Controlled Trials
Authors: Hou Shanshan , Tian Zezhong , Zhao Dan , Liang Ying , Dai Suming , Ji Qiuhua , Fan Zhiying , Liu Zhihao , Liu Meitong , Yang Yan 
Published: April 2023

ScopeCoenzyme Q10 (CoQ10) has become a popular nutritional supplement due to its wide range of beneficial biological effects. Previous meta‐analyses show that the attenuation of CoQ10 on inflammatory biomarkers remains controversial. This meta‐analysis aims to assess the efficacy and optimal dose of CoQ10 supplementation on inflammatory indicators in the general population.Methods and resultsDatabases are searched up to December 2022 resulting in 6713 articles, of which 31 are retrieved for full‐text assessment and included 1517 subjects. Double‐blind randomized controlled trials (RCTs) of CoQ10 supplementation are eligible if they contain C reactive protein (CRP), interleukin‐6 (IL‐6), and tumor necrosis factor‐α (TNF‐α). CoQ10 supplementation can significantly reduce the levels of circulating CRP (SMD: −0.40, 95% CI: [−0.67 to −0.13], p = 0.003), IL‐6 (SMD: −0.67, 95% CI: [−1.01 to −0.33], p < 0.001), and TNF‐α (SMD: −1.06, 95% CI: [−1.59 to −0.52], p < 0.001) and increase the concentration of circulating CoQ10.ConclusionThis meta‐analysis provides evidence for CoQ10 supplementation to reduce the level of inflammatory mediators in the general population and proposes that daily supplementation of 300–400 mg CoQ10 show superior inhibition of inflammatory factors.
Impact of imperfection in medical imaging data on deep learning‐based segmentation performance: An experimental study using synthesized data
Authors: Güneş Ayetullah Mehdi , van Rooij Ward , Gulshad Sadaf , Slotman Ben , Dahele Max , Verbakel Wilko 
Published: April 2023

AbstractBackgroundClinical data used to train deep learning models are often not clean data. They can contain imperfections in both the imaging data and the corresponding segmentations.PurposeThis study investigates the influence of data imperfections on the performance of deep learning models for parotid gland segmentation. This was done in a controlled manner by using synthesized data. The insights this study provides may be used to make deep learning models better and more reliable.MethodsThe data were synthesized by using the clinical segmentations, creating a pseudo ground‐truth in the process. Three kinds of imperfections were simulated: incorrect segmentations, low image contrast, and artifacts in the imaging data. The severity of each imperfection was varied in five levels. Models resulting from training sets from each of the five levels were cross‐evaluated with test sets from each of the five levels.ResultsUsing synthesized data led to almost perfect parotid gland segmentation when no error was added. Lowering the quality of the parotid gland segmentations used for training substantially lowered the model performance. Additionally, lowering the image quality of the training data by decreasing the contrast or introducing artifacts made the resulting models more robust to data containing those respective kinds of data imperfection.ConclusionThis study demonstrated the importance of good‐quality segmentations for deep learning training and it shows that using low‐quality imaging data for training can enhance the robustness of the resulting models.
EPR characterization of Cu/Al‐Zr‐Ce ethanol dehydrogenation catalysts: Active site development and coking control
Authors: Fionov Yuri A. , Chuklina Sofia G. , Khlusova Ksenia S. , Fionov Alexander V. , Zhukova Anna I. 
Published: April 2023

AbstractElectron paramagnetic resonance (EPR) spectroscopy was applied to study structure–performance relationships for copper‐containing catalysts based on Al‐Zr‐Ce mixed oxides with various oxide support synthesis temperature. In situ EPR showed that the state of Cu2+ sites depends on the phase composition of the support, temperature, as well as the presence of the reaction medium during catalysis.