bluuebunny/crossref_metadata_2025_split huggingface dataset:
Downregulation of ACAN is Associated with the Growth hormone pathway and Induces short stature
Authors: Wu Huiping , Wang Chaoban , Yu Shiwen , Ye Xiaojun , Jiang Yalan , He Pingping , Shan Xiaoou 
Published: January 2023

AbstractBackgroundACAN heterozygous mutations can cause short stature in patients with or without advanced bone age and have recently attracted researchers' attention. Growth hormone can be used to treat short stature induced by ACAN mutations; however, few studies have focused on the underlying mechanism of this treatment.MethodsFour patients with new mutations were reported based on clinical data and genetic tests. We investigated the expression and Gene Ontology biological process enrichment of ACAN and GH pathways based on GTEx databases through bioinformatics analyses. The effect of ACAN on the growth hormone response evaluated in ATDC5 cells with a growth hormone stimulation test.ResultsFour mutations were reported in this study: c.619C > A, c.1967A > G, c.1888G > A, and c.1308_1309del. All patients' heights were under −2.5 SD, with one had advanced bone age, and two had GH deficiency.Two individuals received growth hormone therapy acquired variable levels of height SD score improvement. ACAN and the GH pathway were strongly associated; ACAN does not affect GHR but regulates the response to GH. Downregulating ACAN inhibited ATDC5 cell proliferation induced by GH.ConclusionACAN is associated with the GH pathway, revealing the potential mechanism underlying GH‐targeted treatment for ACAN mutation‐induced short stature. GH‐promoting therapies may increase patients' heights.
Volunteering in the community: Understanding personal experiences of South Asians in the United Kingdom
Authors: Iqbal Syka , Di Martino Salvatore , Kagan Carolyn 
Published: January 2023

AbstractUpstanding civic action is central to individual and community well‐being, particularly when communities comprise rich and diverse membership. However, not all groups in society have the same opportunities and resources to volunteer. This is particularly true for South Asian people, who are often reported to be less likely to volunteer. Research into the experience and meanings that this ethnic group attributes to volunteering has been exceptionally scarce. Informed by a community psychology perspective, this qualitative study conducted nine semistructured interviews with British South Asians involved in formal volunteering activities. The aim was to explore their personal experiences and motivations regarding volunteering for their community of belonging. Results from reflexive thematic analysis were grouped under three themes. These were (1) volunteering cultivated individual well‐being, (2) South Asians who volunteer often experience social injustice and marginalisation and (3) volunteering for South Asians is intrinsically tied to religious and cultural motivations. British South Asians faced personal and social obstacles in accessing fundamental health and social care in their communities of belonging. Religion, and community social capital were positive volunteering strategies for British South Asians. Positive impacts of well‐being included becoming closer to faith and increased sense of meaning/purpose and recognising of individual strengths. These findings offer valuable insights and recommendations for community organisations and governmental bodies to better promote volunteering for ethnic minorities. We suggest the adoption of cultural and religious sensitivity, along with strategies to remove barriers in access to opportunities and support for volunteering.
Tight asymptotics of clique‐chromatic numbers of dense random graphs
Authors: Demidovich Yu. , Zhukovskii M. 
Published: January 2023

AbstractThe clique‐chromatic number of a graph is the minimum number of colors required to assign to its vertex set so that no inclusion maximal clique is monochromatic. McDiarmid, Mitsche, and Prałat proved that the clique‐chromatic number of the binomial random graph is at most with high probability (whp). Alon and Krivelevich showed that it is greater than whp and suggested that the right constant in front of the logarithm is . We prove their conjecture and, beyond that, obtain a tight concentration result: whp .
Contribution of genotypes in Prothrombin and Factor V Leiden to COVID‐19 and disease severity in patients at high risk for hereditary thrombophilia
Authors: Kiraz Aslıhan , Sezer Ozlem , Alemdar Adem , Canbek Sezin , Duman Nilgun , Bisgin Atıl , Cora Tulin , Ruhi Hatice Ilgın , Ergoren Mahmut Cerkez , Geçkinli Bilgen Bilge , Sag Sebnem Ozemri , Gözden Hilmi Erdem , Oz Ozlem , Altıntaş Zuhal Mert , Yalcıntepe Sinem , Keskin Adem , Tak Ayşegül Yabacı , Paskal Şeyma Aktaş , Yürekli Uğur Fahri , Demirtas Mercan , Evren Emine Unal , Hanta Abdullah , Başdemirci Müşerref , Suer Kaya , Balta Burhan , Kocak Nadir , Karabulut Halil Gürhan , Cobanogulları Havva , Ateş Esra Arslan , Bozdoğan Sevcan Tuğ , Eker Damla , Ekinci Sadiye , Nergiz Süleyman , Tuncalı Timur , Yagbasan Serap , Alavanda Ceren , Kutlay Nuket Yurur , Evren Hakan , Erdoğan Murat , Altıner Sule , Sanlidag Tamer , Gonen Gizem Akıncı , Vicdan Arzu , Eras Nazan , Eker Hatice Koçak , Balasar Ozgür , Tuncel Gulten , Dundar Munis , Gurkan Hakan , Temel Sehime Gulsun 
Published: January 2023

AbstractThrombotic and microangiopathic effects have been reported in COVID‐19 patients. This study examined the contribution of the hereditary thrombophilia factors Prothrombin (FII) and Factor V Leiden (FVL) genotypes to the severity of COVID‐19 disease and the development of thrombosis. This study investigated FII and FVL alleles in a cohort of 9508 patients (2606 male and 6902 female) with thrombophilia. It was observed that 930 of these patients had been infected by SARS‐CoV‐2 causing COVID‐19. The demographic characteristics of the patients and their COVID‐19 medical history were recorded. Detailed clinical manifestations were analyzed in a group of cases (n = 4092). This subgroup was age and gender‐matched. FII and FVL frequency data of healthy populations without thrombophilia risk were obtained from Bursa Uludag University Medical Genetic Department's Exome Databank. The ratio of males (31.08%; 27.01%) and the mean age (36.85 ± 15.20; 33.89 ± 14.14) were higher among COVID‐19 patients compared to non‐COVID‐19 patients. The prevalence of FVL and computerized tomography (CT) positivity in COVID‐19 patients was statistically significant in the thrombotic subgroup (p < 0.05). FVL prevalence, CT positivity rate, history of thrombosis, and pulmonary thromboembolism complication were found to be higher in deceased COVID‐19 patients (p < 0.05). Disease severity was mainly affected by FVL and not related to genotypes at the Prothrombin mutations. Overall, disease severity and development of thrombosis in COVID‐19 are mainly affected by the variation within the FVL gene. Possible FVL mutation should be investigated in COVID‐19 patients and appropriate treatment should be started earlier in FVL‐positive patients.
Effects of amino acids and albumin administration on albumin metabolism in surgically stressed rats: A basic nutritional study
Authors: Wada Akira , Nakamura Mika , Kobayashi Kiyoka , Kuroda Akiyoshi , Harada Daisuke , Kido Satoshi , Kuwahata Masashi 
Published: January 2023

AbstractBackgroundNutrition therapy and administration of albumin preparations are common in postsurgical patients. However, the effects of these interventions on albumin metabolism are unclear. We elucidated the effect of postoperative albumin and/or parenteral nutrition administration on it.MethodsSprague‐Dawley rats underwent surgery involving intestinal rubbing followed by intestinal exposure. Subsequently, they were administered experimental solutions for 48 h, their blood samples were collected at 24 and 48 h, and livers were excised at 48 h. Based on experimental solutions, rats were divided into five groups: non‐surgical (Non‐surg); glucose and electrolyte solution (GE); amino acid, glucose, and electrolyte solution (AGE); GE + rat serum albumin (Alb) (GE + Alb); and AGE + Alb. Their plasma albumin concentrations; albumin fractional synthesis rate (ALB FSR); mercaptoalbumin/total albumin ratio (MA ratio); and messenger RNA (mRNA) expressions of albumin and hepatocyte nuclear factor‐1 (HNF‐1) in the liver were measured.ResultsThe GE and AGE groups showed significant decline in albumin concentrations. ALB FSR was significantly enhanced in the AGE group compared with the GE group. The mRNA expression of albumin was similar to ALB FSR in all groups and that of HNF‐1 was significantly decreased in the GE + Alb and AGE + Alb groups compared with the Non‐surg group. The MA ratio in the AGE group was similar to the Non‐surg group.ConclusionThe administration of amino acids comprising parenteral nutrition after surgery augmented ALB FSR and maintained the MA ratio only without simultaneous albumin administration.
Surface‐enhanced Raman spectroscopy and multivariate analysis for the diagnosis of oral squamous cell carcinoma
Authors: Wang Kunyu , Qiu Yu , Wu Chenzhou , Wen Zhi‐Ning , Li Yi 
Published: January 2023

AbstractThe incidence of oral squamous cell carcinoma (OSCC) is increasing worldwide year by year, and its prognosis largely depends on early detection. However, it is difficult to make an early and definitive diagnosis of oral cancer patients by conventional oral examination. This study used surface‐enhanced Raman spectroscopy (SERS) technology to achieve an early and noninvasive diagnosis of oral squamous cell carcinoma. Serum samples were collected from 74 patients with OSCC, 15 patients with malignant neoplasm of the salivary gland, and 94 normal subjects. And saliva samples from 25 patients with OSCC, 8 patients with malignant neoplasm of the salivary gland, and 35 normal subjects. High‐quality surface‐enhanced Raman spectra were obtained using silver nanoparticles (Ag NPs) as the enhancement matrix. The differences in the measured Raman spectra revealed differences in the relative concentrations of biomolecules in saliva and serum from oral squamous carcinoma, salivary gland malignancies, and normal subjects. In combination with a support vector machine (SVM) diagnostic model, the cross‐validation method is used to assess model performance in terms of accuracy, sensitivity, specificity, F1‐measure, balanced accuracy, Matthews correlation coefficient, and area under the receiver operating characteristic curve. The accuracy of model identification is above 80% for all serum samples, whereas the detection of saliva samples, although poorer than serum samples, is expected to improve the diagnostic accuracy with increased sample size. The results suggest that body fluid SERS combined with SVM has great potential to diagnose OSCC noninvasively and rapidly.
Sloth bear maternal and resting den locations in eastern Karnataka
Authors: Swaminathan Shanmugavelu , Sharp Thomas R. , Arun Attur S. , Smith Tom S. , Larsen Randy , Satyanarayan Kartick , Seshamani Geeta 
Published: January 2023

AbstractSloth bears (Melursus ursinus) use resting and maternal dens. Resting dens are used by both sexes, usually during the mid‐day when sloth bears are least active. Maternal dens are used by female bears to give birth and raise cubs. The purpose of our study was to better understand the denning ecology of sloth bears in eastern Karnataka so that important denning habitat can be delineated and protected. We documented resting and maternal dens from 2014 to 2018 in 5 different study areas surrounded by agriculture and orchards in eastern Karnataka, India. We used landscape and site‐specific variables to model the probability of den occurrence. The best fit model for approximating maternal den site selection included distance to forest border, protection level, aspect, slope, and elevation. The best fit model for approximating resting den site selection included distance to forest border, aspect, slope, protection level and ruggedness. Maternal dens were closer to forest borders than resting dens. We postulate that areas near the forest border are chosen for access to resources and that mothers choose dens closer to edges because of the constraints and needs of cubs. In poorly protected, resource‐deficient areas, selection of maternal dens near habitat edges presents a tradeoff between higher resource availability closer to human habitation, reduced risk of cub predation, and higher risk of human‐caused mortality compared to areas farther from forest borders. Resting and maternal dens were farther from forest borders in better‐protected areas, suggesting that if resources are prevalent in the habitat, bears would use locations farther from the forest borders.
Performance of a Flow‐Through Enzyme Reactor Prepared from a Silica Monolith and an α‐Poly(D‐Lysine)‐Enzyme Conjugate
Authors: Ghéczy Nicolas , Tao Siyuan , Pour‐Esmaeil Sajad , Szymańska Katarzyna , Jarzębski Andrzej B. , Walde Peter 
Published: January 2023

AbstractHorseradish peroxidase (HRP) is covalently bound in aqueous solution to polycationic α‐poly(D‐lysine) chains of ≈1000 repeating units length, PDL, via a bis‐aryl hydrazone bond (BAH). Under the experimental conditions used, about 15 HRP molecules are bound along the PDL chain. The purified PDL‐BAH‐HRP conjugate is very stable when stored at micromolar HRP concentration in a pH 7.2 phosphate buffer solution at 4 °C. When a defined volume of such a conjugate solution of desired HRP concentration (i.e., HRP activity) is added to a macro‐ and mesoporous silica monolith with pore sizes of 20–30 µm as well as below 30 nm, quantitative and stable noncovalent conjugate immobilization is achieved. The HRP‐containing monolith can be used as flow‐through enzyme reactor for bioanalytical applications at neutral or slightly alkaline pH, as demonstrated for the determination of hydrogen peroxide in diluted honey. The conjugate can be detached from the monolith by simple enzyme reactor washing with an aqueous solution of pH 5.0, enabling reloading with fresh conjugate solution at pH 7.2. Compared to previously investigated polycationic dendronized polymer‐enzyme conjugates with approximately the same average polymer chain length, the PDL‐BAH‐HRP conjugate appears to be equally suitable for HRP immobilization on silica surfaces.
Cholinergic Nucleus 4 Degeneration and Cognitive Impairment in Isolated Rapid Eye Movement Sleep Behavior Disorder
Authors: Tan Christopher , Nawaz Huma , Lageman Sarah K. , Cloud Leslie J. , Amara Amy W. , Newman Benjamin T. , Druzgal T. Jason , Berman Brian D. , Mukhopadhyay Nitai , Barrett Matthew J. 
Published: January 2023

AbstractBackgroundCholinergic nucleus 4 (Ch4) degeneration is associated with cognitive impairment in Parkinson's disease and dementia with Lewy bodies, but it is unknown if Ch4 degeneration is also present in isolated rapid eye movement sleep behavior disorder (iRBD).ObjectiveThe aim was to determine if there is evidence of Ch4 degeneration in patients with iRBD and if it is associated with cognitive impairment.MethodsWe analyzed the clinical and neuropsychological data of 35 iRBD patients and 35 age‐ and sex‐matched healthy controls. Regional gray matter density (GMD) was calculated for Ch4 using probabilistic maps applied to brain magnetic resonance imaging (MRI).ResultsCh4 GMD was significantly lower in the iRBD group compared to controls (0.417 vs. 0.441, P = 0.02). Ch4 GMD was also found to be a significant predictor of letter number sequencing (β‐coefficient = 58.31, P = 0.026, 95% confidence interval [7.47, 109.15]), a measure of working memory.ConclusionsiRBD is associated with Ch4 degeneration, and Ch4 degeneration in iRBD is associated with impairment in working memory. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
RNA modification pattern‐based subtypes reveal heterogenous clinical outcomes and tumor immunity of clear cell renal cell carcinoma
Authors: Jiang Aimin , Xu Zijun , Fang Xiao , Gu Di , Dong Kai , Wu Zhenjie , Gan Xinxin , Liu Bing , Ge Silun , Qu Le , Luo Peng , Wang Anbang , Wang Linhui 
Published: January 2023

AbstractRNA methylation plays a key role across biological processes, which could be utilized as new weapons for cancer management. However, the implication of RNA methylation regulators in cancers, especially in clear cell renal cell cancer (ccRCC), remains largely unknown. We investigated the multiomics profile of RNA methylation regulators at the pan‐cancer level. We found most RNA methylation regulators were dysregulated in cancers, which might be explained by genomic mutation and copy number variation. A novel subtype of ccRCC, RNA modification cancer subtype 2 (RMCS2), was identified and verified among different ccRCC cohorts. RMCS2 led to a shortened overall survival and had an activated state of PI3K‐AKT‐mTOR, KRAS, and retinoic acid metabolism signals, which resulted in an immune exhausted phenotype. In summary, our findings demonstrated that the aberrance of RNA methylation regulators was a common biological phenomenon pan‐cancer. Dysregulated RNA methylation patterns could reshape tumor immunity thus impacting patients' prognosis and therapeutic response, and could function as a promising tool for ccRCC patients.
A phase I change‐point method for high‐dimensional process with sparse mean shifts
Authors: Huang Wenpo , Shu Lianjie , Li Yanting , Wang Luyao 
Published: January 2023

AbstractAlthough Phase I analysis of multivariate processes has been extensively discussed, the discussion on techniques for Phase I monitoring of high‐dimensional processes is still limited. In high‐dimensional applications, it is common to observe that a large number of components but only a limited number of them change at the same time. The shifted components are often sparse and unknown a priori in practice. Motivated by this, this article studies Phase I monitoring of high‐dimensional process mean vectors under an unknown sparsity level of shifts. The basic idea of the proposed monitoring scheme is to first employ the false discovery rate procedure to estimate the sparsity level of mean shifts, and then to monitor the mean changes based on the maximum of the directional likelihood ratio statistics over all the possible shift directions. The comparison results based on extensive simulations favor the proposed monitoring scheme. A real example is presented to illustrate the implementation of the new monitoring scheme.
Validation of the Chinese version of the kidney transplant understanding tool in Chinese patients
Authors: Ma Hangxia , Hu Maosen , Wan Jingjing 
Published: January 2023

AbstractAimsTo evaluate the reliability and validity of the Chinese version of the Kidney Transplant Understanding Tool (K‐TUT) among patients in China.DesignCross‐sectional study.MethodsA convenience sample of 171 kidney transplant (KT) candidates and 272 KT recipients was recruited from two tertiary and Grade A hospitals in Hunan Province, China. The reliability was calculated by half‐fold reliability, test–retest reliability and Cronbach's alpha. The validity was analysed by the content validity index.ResultsFor KT candidates, the Chinese version of K‐TUT deleted items 4, 6, 7 and 8, Cronbach's α coefficient was 0.778, half‐fold reliability values were 0.792, and test–retest reliability values were 0.902. For KT recipients, the tool deleted items 3, 4, 6, 7 and 8, Cronbach's α coefficient was 0.769, half‐fold coefficient values were 0.701, and retest coefficient values were 0.888. The content validity index was 0.967.ConclusionsThe K‐TUT is an acceptable and reliable measurement for evaluating the relevant knowledge of KT recipients and candidates.ImpactIt is anticipated that this new tool will help the nursing staff to identify specific areas of deficiency that could be targeted in health education to improve the KT knowledge of patients.
Patient‐reported outcomes for congenital diaphragmatic hernia: A qualitative study
Authors: Taillieu Aymara , Deprest Jan , Vergote Simen , Debeer Anne , Russo Francesca Maria , Power Beverley , Meijer Frank , Crombag Neeltje 
Published: January 2023

AbstractObjectiveTo identify Patient‐reported outcomes (PROs) for parents with a lived experience of a prenatal diagnosis of isolated congenital diaphragmatic hernia (CDH).MethodThematic analysis of in‐depth interview transcripts.ResultsInterviews (n = 26) identified 11 PROs for given time points throughout the CDH trajectory. At the time of diagnosis, acceptable quality of life was selected as relevant PRO to decide whether to continue or terminate the pregnancy. During pregnancy, (neonatal) survival chances and the eligibility for foetal therapy were prominent outcomes with foetal and maternal complications adding distress. After birth, postnatal management options became the next milestone. When survival was deemed likely, post‐hospital discharge complications and future care for infant and child became important. In retrospect, impact on family, bonding, parental mental health, and parental satisfaction with care were reported as relevant outcomes.ConclusionPROs are relevant in addition to hard medical outcomes, as they help parents to make decisions suiting their unique needs and personal situation. Given the knowledge inherently related to the parent's perspective, our findings provide relevant directions for clinicians to support parents and their family in facing challenging decisions in healthcare. The outcomes impacting parents are essential to prepare parents for the steep journey ahead.
Pedigree‐management‐flight interaction for temporal phenotype analysis and temporal phenomic prediction
Authors: Adak Alper , Anderson Steven L. , Murray Seth C. 
Published: January 2023

AbstractUnoccupied aerial systems (UAS, aka drones) provide high dimensional temporal phenotype data for predictive plant breeding and genetic dissection. Methods to assess temporal phenotype data are an emerging need to predict temporal breeding values of genotypes. Here a novel interaction design was developed and evaluated to include drone flight dates as a component into the mixed model; allowing the temporal changes of drone image derived traits of maize hybrids across different flight dates as well as different management conditions to be monitored. Across 2017 and 2019 respectively, 228 and 100 maize hybrids were grown under two types of management (optimal and late plantings). Seven drone surveys were conducted over each management in 2017 while five drone surveys were conducted over each management in 2019. Temporal plant height (canopy height measurements, CHM) and normalized green‐red difference index (NGRDI) were extracted from each drone survey and used as phenotype data to evaluate the interaction design. Day of flight effects explained the highest amount of total variation for grain yield in the interaction model, meaning the majority of phenotypic variation of CHM and NGRDI occurred across growth with a unique temporal trajectory in each management system. Temporal repeatability values remained higher than 0.5 for CHM and NGRDI in each year. Temporal CHM and NGRDI breeding values of maize hybrids were combined in ridge and lasso regression prediction models. Yield prediction ability of untested genotypes in untested environments were predicted higher by using pedigree × management × flight (PMF) and pedigree× management (PM) interaction results (∼0.34 and 0.52 in 2017 and 2019). Combining environment specific phenomic data (PMF plus PM) gave a larger improvement in yield prediction when the tested and untested environments were less similar. Overall, combined temporal phenomic data could moderately predict grain yield under the most challenging predictive breeding scenario, untested and unrelated genotypes in untested environments.