bluuebunny/crossref_metadata_2025_split huggingface dataset:
Eighth case of Li‐Campeau syndrome in a Turkish patient caused by a novel pathogenic variant in UBR7 and expanding the phenotype
Authors: Edizadeh Masoud , Kaymakcalan Hande , Valilou Saeed Farajzadeh , Şahin Yavuz 
Published: February 2023

AbstractLi‐Campeau syndrome (LICAS) is an autosomal recessive disorder characterized by developmental delay, intellectual disability, genital anomalies, congenital heart defects, and dysmorphic features. LICAS is caused by biallelic pathogenic variants in the UBR7 gene, acting as an E3 ubiquitin‐protein ligase. Using exome sequencing (ES), we identified a homozygous novel pathogenic splice site variation c.1185+1G>C in UBR7 in a 32‐month‐old male from a nonconsanguineous Turkish family with clinical features of LICAS. Sanger sequencing revealed the heterozygous state of parents for this variant and confirmed the co‐segregation study. The variant may lead to the loss of function of UBR7 and is in a highly conserved residue. Bioinformatic prediction analysis using in silico algorithms supports the pathogenic effect of the splice site variant in the UBR7.
Risk of new‐onset and prevalent disease in chronic rhinosinusitis: A prospective cohort study
Authors: Hirsch Annemarie G. , Schwartz Brian S. , Nordberg Cara , Tan Bruce K. , Schleimer Robert P. , Kern Robert C. , Peters Anju T. , Bandeen‐Roche Karen , Lehmann Ashton E. 
Published: February 2023

AbstractBackgroundChronic rhinosinusitis (CRS) is accompanied by burdensome comorbid conditions. Understanding the relative timing of the onset of these conditions could inform disease prevention, detection, and management.ObjectiveTo evaluate the association between CRS and new‐onset and prevalent asthma, noncystic fibrosis bronchiectasis (NCFBE), chronic obstructive pulmonary disease (COPD), gastroesophageal reflux disease (GERD), and obstructive sleep apnea (OSA).MethodsWe conducted a prospective cohort study among primary care patients using a detailed medical and symptom questionnaire in 2014 and again in 2020. We used questionnaire and electronic health record (EHR) data to determine CRS status: CRSSE (moderate to severe symptoms with EHR evidence), CRSE (limited symptoms with EHR evidence), CRSS (moderate to severe symptoms without EHR evidence), CRSneg (limited symptoms and no EHR evidence; reference). We evaluated the association between CRS status and new‐onset and prevalent disease using logistic regression to estimate odds ratios (ORs) and 95% confidence intervals (CIs).ResultsThere were 7847 and 4445 respondents to the 2014 and 2020 questionnaires, respectively. CRSSE (vs CRSneg) was associated with increased odds of new‐onset asthma (OR, 1.74 [CI, 1.09–2.77), NCFBE (OR, 1.87 [CI, 1.12–3.13]), COPD (OR, 1.73 [CI, 1.14–2.68]), GERD (OR, 1.95 [CI, 1.61–2.35]), and OSA (OR, 1.91 [CI, 1.39–2.62]). Similarly, increased odds were observed for associations with the prevalence of these conditions.ConclusionThe findings from the study support further exploration of CRS as a target for the prevention and detection of asthma, NCFBE, COPD, GERD, and OSA.
Urology boot camp for medical students: Using virtual technology to enhance undergraduate education
Authors: Fonseka Thomas , Henry Mei‐Ling , Ellerington Clare , Gowda Arjun , Ellis Ricky 
Published: February 2023

AbstractObjectivesThe study aims to describe the methodology of converting the urology boot camp for medical students into a virtual course with key take home points for a successful conversion and to present quantitative and qualitative data demonstrating the impact of the boot camp on improving delegates' knowledge and clinical acumen.Materials and methodsThe face‐to‐face boot camp was converted to a virtual format employing a variety of techniques including; utilizing an online platform to deliver live screened lectures, using online polling software to foster an interactive learning environment and displaying pre‐recorded videos to teach practical skills. Validated Multiple Choice Questionnaires (MCQs) were used prior to and after the course. This enabled the assessment of delegates' knowledge of urology according to the national undergraduate curriculum, and paired t tests were used to quantify the level of improvement. Thematic analysis was carried out on post‐course delegate feedback to identify highlights of the course and ways of improving future iterations.ResultsIn total, 131 delegates took part in the pilot virtual course. Of these, 105 delegates completed the pre‐ and post‐course MCQs. There was a statistically significant improvement in the assessment following the course (p = <0.001) with mean score increasing from 47.5% pre‐course to 65.8% post‐course. All delegates who attended the most recent implementation of the virtual course (n = 31) felt it improved their knowledge and confidence in urology. Twenty delegates (64.5%) felt that it prepared them for both final year medical school examinations and working as a foundation year doctor. Positive themes in feedback were identified, which included the interactive nature of the course, the quality of teaching, the level and content of information provided and the high yield, concise organization of the teaching schedule.ConclusionUsing virtual technology and innovative educational frameworks, we have demonstrated the successful conversion of the urology boot camp for medical students to a virtual format. At a national level, with support from the British Association of Urological Surgeons, the face‐to‐face component of the course will continue to run in parallel with the virtual course with the aim of standardizing and improving UK undergraduate urological education. The virtual course has been implemented on an international scale, and this has already shown promising results.
Trends in prevalence of gastroschisis in Brazil from 2007 to 2020: A national population‐based cross‐sectional study
Authors: Regadas Claudia Tavares , Escosteguy Claudia Caminha , Fonseca Sandra Costa , Pinheiro Rejane Sobrino , Coeli Claudia Medina 
Published: February 2023

AbstractBackgroundGastroschisis is a congenital abnormality of the abdominal wall which worldwide prevalence is increasing with time. Up to now, young maternal age is the main factor associated with gastroschisis. Brazil has a great proportion of adolescent mothers.ObjectivesTo estimate prevalence of gastroschisis in Brazil, explore the effect of very young maternal age, and analyze regional distribution and time trends.MethodsCross‐sectional population‐based study using data from official national information systems from 2007 to 2020, covering 9,831 gastroschisis cases. Low maternal age was assessed as risk factor through odds ratio. Prevalence time trends by maternal age and geographic area were analyzed using joinpoint regression.ResultsOverall prevalence of gastroschisis in Brazil was 2.47 per 10,000 births. From first to last biennium, there was a 23% relative increase. Last biennium prevalence was higher in the Central‐west region and lower in the Northeast.Compared to mothers of 20–34 years old (YO), the odds‐ratio for prevalence and 95% confidence intervals for gastroschisis were, as follows: (a) 10–14 YO—4.9 (4.3,5.5); (b) 15–19 YO—3.6 (3.5,3.8); and (c) 35–49 YO—0.3 (95% CI 0.3, 0.4).ConclusionsPrevalence of gastroschisis in Brazil relatively increased 23% from 2007 to 2020. This happened in all maternal age groups. Differences between regions may be associated to data quality. Young mothers had a higher prevalence of gastroschisis and still higher for those under 15 YO. Mother age over 34 YO was a protective factor.
Green micelle and complex inclusion enhance synchronous spectrofluorimetric quantification of a novel analgesic combination: Tramadol and celecoxib in tablet dosage form and spiked human plasma
Authors: Bahgat Eman A. , Hashem Hisham , Saleh Hanaa , Kamel Ebraam B. , Eissa Maya S. 
Published: February 2023

AbstractThis work offers for the first time an optimized, highly sensitive, simple, and accurate synchronized spectrofluorimetric technique for the simultaneous measurement of tramadol and celecoxib in powder form, their combined multimodal tablet, and finally spiked human plasma samples. Tramadol and celecoxib were recently released as a new drug combination to alleviate intense, sudden pain when other pain medications had failed. The technique entailed taking measurements of the fluorescence amplitudes of the synchronized spectra at Δλ = 100 nm. Excitation was made at 220 nm and 264 nm, whereas the emission points were 282 nm and 368 nm for tramadol and celecoxib, respectively. This technique offers linearity of 40–400 ng/ml and 100–2000 ng/ml for tramadol and celecoxib, respectively. Complex formation between the cited medications with the surfactant sodium dodecyl sulphate enhanced the fluorescence intensity and other control parameters. Tramadol and celecoxib were both determined in spiked human plasma using the current technique with marked percentage recoveries of 98.63 ± 6.30% and 99.32 ± 6.67%, respectively. Last, the research was extended to check the greenness profile of the finally optimized method and the results revealed excellent eco‐friendliness. Three greenness assessment tools were used including Eco‐scale, the Green Analytical Procedure Index tool, and the AGREE calculator. Sustainable development, economic feasibility, and environmental soundness were all considered throughout the development of the present technique. The approach was validated in accordance with the requirements provided by the International Council for Harmonization.
Analysis of supplier evaluation and selection strategies for sustainable collaboration: A combined approach of best–worst method and TOmada de Decisao Interativa Multicriterio
Authors: Govindan Kannan ,   Aditi, Kaul Arshia , Darbari Jyoti Dhingra , Jha P. C. 
Published: February 2023

AbstractSustainable collaboration between manufacturer and supplier has emerged as a crucial supply chain decision for increasing business efficiency. In this study, a theoretical framework is proposed that uses practice‐based view to analyze key performance indicators (KPIs) for developing sustainable collaboration. Further, the current study proposes a novel three‐phase supplier evaluation–selection model to assess the incumbent suppliers on basis of KPIs for showcasing the applicability of theoretical framework. The model uses best–worst method (BWM) in the first phase for generating weights of KPI, adopts the TODIM approach in the second phase for evaluation of suppliers, and develops a supplier classification grid in the third phase for analyzing the impact of each selection strategy to be adopted. The novelty of the study is in evaluation of suppliers based on the KPIs with consideration of desirability as well as the potentiality metric and in consideration of the selection strategies, namely, supplier retention, supplier development, and supplier switching. A case study of India's leading home appliances company is taken to demonstrate the application of the current study. The result of BWM reveals that in terms of supplier's potentiality, “quality” emerges as a strong KPI while KPI “information disclosure” gains more importance while considering supplier's desirability towards strengthening the sustainable relationship. The TODIM grid analysis result suggests that suppliers with high performance in both metrics clearly qualify as the best suppliers and must be retained, while the suppliers performing low in both areas must be switched. For suppliers with metric values in conflict with each other, a trade‐off analysis is needed. Important research and managerial implications are drawn from the validation of the proposed framework, which can be useful for researchers and practitioners.
Hypoxia‐induced YAP activation and focal adhesion turnover to promote cell migration in mesenchymal TNBC cells
Authors: Nguyen Thi My Hang , Lai Yi‐Shyun , Chen Ying‐Chi , Lin Tzu‐Chien , Nguyen Ngoc Thang , Chiu Wen‐Tai 
Published: February 2023

AbstractBackgroundHypoxia is commonly characterized by malignant tumors that promote the aggressiveness and metastatic potential of cancer. Triple‐negative breast cancer (TNBC) is the most aggressive subtype of breast cancer, with approximately 46% capacity related to distant metastasis. Transcriptional factor yes‐associated protein (YAP), a core component of the Hippo pathway, is associated with poor prognosis and outcome in cancer metastasis. Here, we explored the effect of hypoxia‐mediated YAP activation and focal adhesions (FAs) turnover in mesenchymal TNBC cell migration.MethodsWe characterized the effect of hypoxia on YAP in different breast cancer cell lines using a hypoxia chamber and CoCl2.ResultsHypoxia‐induced YAP nuclear translocation is significantly observed in normal breast epithelial cells, non‐TNBC cells, mesenchymal TNBC cells, but not in basal‐like TNBC cells. Functionally, we demonstrated that YAP activation was required for hypoxia to promote mesenchymal TNBC cell migration. Furthermore, hypoxia induced the localization of FAs at the leading edge of mesenchymal TNBC cells. In contrast, verteporfin (VP), a YAP inhibitor, significantly reduced the migration and the recruitment of nascent FAs at the cell periphery under hypoxia conditions, which only showed in mesenchymal TNBC cells.ConclusionsOur data support the hypothesis that YAP is novel factor and positively responsible for hypoxia‐promoting mesenchymal TNBC cell migration. Our findings provide further evidence and outcomes to help prevent the progression of TNBC.
Stepwise Frontal Analysis Coupled with Affinity Chromatography: A Fast and Reliable Method for Potential Ligand Isolation and Evaluation from Mahuang‐Fuzi‐Xixin Decoction
Authors: Jin Yahui , Wang Wenwen , Zhang Zilong , Ou Yuanyuan , Quan Jia , Zhao Xinfeng 
Published: February 2023

AbstractMahuang‐Fuzi‐Xixin Decoction (MFXD) is widely used in the treatment of asthma, however, the functional components in the decoction targeting beta2‐adrenoceptor (β2‐AR) remain unclear. Herein, we immobilized the haloalkane dehalogenase (Halo)‐tagged β2‐AR on the 6‐chlorocaproic acid‐modified microspheres. Using the affinity stationary phase, the interactions of four ligands with the receptor were analyzed by stepwise frontal analysis. The association constants were (4.75±0.28)×104 M−1 for salbutamol, (2.93±0.15)×104 M−1 for terbutaline, (1.23±0.03)×104 M−1 for methoxyphenamine, (5.67±0.38)×104 M−1 for clorprenaline at high‐affinity binding site, and (2.73±0.05)×103 M−1 at low‐affinity binding site. These association constants showed the same rank order as the radioligand binding assay, demonstrating that immobilized β2‐AR had capacity to screen bioactive compounds binding to the receptor while stepwise frontal analysis could predict their binding affinities. Application of the immobilized receptor in analysis of MFXD by chromatographic method revealed that ephedrine, aconifine, karakoline, and chasmanine were the bioactive compounds targeting β2‐AR. Among them, ephedrine and chasmanine exhibited association constants of (2.94±0.02)×104 M‐1and (4.60±0.15)×104 M−1 to the receptor by stepwise frontal analysis. Molecular docking analysis demonstrated that ephedrine, chasmanine, and the other two compounds interact with β2‐AR through the same pocket involving the key amino acids such as Asn312, Asp113, Phe289, Trp286, Tyr316, and Val114. As such, we reasoned that the four compounds dominate the therapeutic effect of MFXD against asthma through β2‐AR mediating pathway. This work shed light on the potential of immobilized β2‐AR for drug discovery and provided a valuable methodology for rapid screening.
Stiff person syndrome in a Nepalese man with uncontrolled diabetes mellitus and ketonuria: A rare case report
Authors: Kharel Sanjeev , Ojha Rajeev , Bhandari Siddhartha , Sharma Amit , Parajuli Naresh , Karn Ragesh , Gajurel Bikram Prasad , Rajbhandari Reema , Gautam Niraj , Shrestha Ashish 
Published: February 2023

AbstractStiff Person Syndrome (SPS), a progressive Central Nervous System disorder is accompanied by progressive muscle rigidity, hyperreflexia, and spasms mainly in truncal and proximal leg muscles mainly associated with autoimmune disorders. Here, we report a rare case of SPS in a middle‐aged Nepalese man with uncontrolled diabetes mellitus and ketonuria.
High‐fat‐diet induced obesity and diabetes mellitus in Th1 and Th2 biased mice strains: A brief overview and hypothesis
Authors: Somi Sankaran Prakash 
Published: February 2023

AbstractObesity and diabetes mellitus are common metabolic diseases prevalent worldwide. Mice are commonly used to study the pathogenesis of these two conditions. Obesity and diabetes mellitus are induced by administering a high‐fat diet in many studies although other diet‐induced models are also used. Several factors may influence the outcome of the studies done to study diet‐induced obesity in mice. The immune system plays a crucial role in the susceptibility of mice to develop obesity and metabolic disease. In this article, the reasons for differences in susceptibility to develop obesity and diabetes mellitus in mice in response to high‐fat‐diet feeding and the influence of immunological bias of the mice strain used in studies are evaluated. Mice strains that induce proinflammatory and Th1‐type immune responses are found to be susceptible to high‐fat‐diet‐induced obesity. A few studies which directly compared the effect of a high‐fat diet on obesity and diabetic phenotype in Th1‐ and Th2‐biased mice strains were briefly analyzed. Based on the observations, it is proposed that the liver and adipose tissue may respond differently to high‐fat‐diet feeding regimens in Th1‐ and Th2‐biased mice strains. For instance, in Th1‐biased mice, adipose tissue fat content was high both in the baseline as well as in response to a high‐fat diet whereas in the liver, it was found to be less. It can be inferred that the immune responses to diet‐induced models may provide insights into the pathogenesis of obesity and diabetes mellitus.
Pharmacotherapy treatment patterns at hospital discharge and clinical outcomes among patients with heart failure with reduced ejection fraction
Authors: Wongsalap Yuttana , Poolpun Duangkamon , Keawhai Konrapee , Kitpluem Napusson , Pansiri Parichat , Malaimat Siriluck , Senthong Vichai , Kengkla Kirati 
Published: February 2023

AbstractBackgroundThis study aimed to assess the prescribing patterns of evidence‐based pharmacotherapy and their association with clinical outcomes in patients with heart failure with reduced ejection fraction (HFrEF) in Thailand.MethodsA retrospective cohort study of patients with HFrEF was conducted. Treatment with a β‐blocker and renin–angiotensin system inhibitors (RASIs) with or without mineralocorticoid receptor antagonists (MRAs) at discharge was regarded as guideline‐directed medical therapy (GDMT). All others were considered non‐GDMT. The primary endpoint was the composite of all‐cause mortality or heart failure (HF) rehospitalization. Inverse‐probability‐treatment‐weighted adjusted Cox proportional hazard models were used to examine the treatment effects.ResultsIn total, 653 patients with HFrEF (mean age 64.1 ± 14.3 years; 55.9% male) were included. GDMT with β‐blockers and RASIs with or without MRAs was prescribed at a rate of 35.4%. During a median of 1‐year follow‐up, 167 patients (27.5%) had a composite event, 81 patients (13.3%) had all‐cause mortality, and 109 patients (18.0%) had HF rehospitalization. Patients treated with GDMT at discharge showed significantly lower rates of the primary endpoint (adjusted hazard ratio [HR] 0.63; 95% CI 0.44–0.89; p = 0.009) compared with patients who did not receive GDMT. The use of GDMT was also associated with a significantly lower risk of all‐cause mortality (adjusted HR 0.59; 95% CI 0.36–0.98; p = 0.045) and HF rehospitalization (adjusted HR 0.65; 95% CI 0.43–0.96; p = 0.031).ConclusionsFor HFrEF treatment, GDMT initiation at hospital discharge was associated with a significantly reduced risk of all‐cause mortality and HF rehospitalization. Nevertheless, prescribing GDMT remains underused, and it could be encouraged to improve HF outcomes in real‐world settings.
Redox Assisted Reversible Aromaticity Transition Between 30π Hückel and 28π Möbius Dication of a Core‐Modified Isophlorinoid
Authors: Shukla Pragati , Ambhore Madan D. , Anand Venkataramanarao G. 
Published: February 2023

AbstractThe electronic properties of a hexaphyrin was fine‐tuned via core‐modification leading to the formation of a Hückel aromatic 30π hexaphyrin which incorporates two pyrrole and four furan rings in the π‐conjugated pathway. This Hückel aromatic hexaphyrin modified its conformation upon two‐electron ring oxidation either with triflic acid or Meerwein salt [Et3O]+[SbCl6]− to yield 28π Möbius aromatic dication species. Reversible aromatic transition was established by spectroscopic techniques and further supported by quantum chemical calculations.
Selective Oxidation of Methanol to Green Oxygenates – Feasibility Study of Fixed‐Bed and Membrane Reactors
Authors: Walter Jan P. , Hamel Christof 
Published: February 2023

AbstractA feasibility study of a conventional fixed‐bed reactor and a packed‐bed membrane reactor (PBMR) in distributor configuration is carried out for the selective oxidation of methanol to the oxygenates dimethoxymethane and methyl formate on a VOx/TiO2 catalyst. Kinetic experiments provided the reaction network and a reliable kinetic model of six main reactions involved. The PBMR offers significant advantages and potential for the formation of both target products due to an effective kinetic coupling of the oxidative dehydrogenation of methanol and the consecutive reaction steps to dimethoxymethane and methyl formate in a broad range of operation conditions.
Anteriolateral versus anterior–posterior electrodes in external cardioversion of atrial fibrillation: A systematic review and meta‐analysis of clinical trials
Authors: Motawea Karam R. , Mostafa Mostafa R. , Aboelenein Merna , Magdi Mohamed , Fathy Hager , Swed Sarya , Belal Mohamed M. , Awad Dina M. , Elhalag Rowan H. , Talat Nesreen E. , Rozan Samah S. , Nashwan Abdulqadir J. , Battikh Naim , Sawaf Bisher , Albuni Mhd K. , Battikh Elias , Mohamed Gihan M. , Farwati Amr , Aiash Hani 
Published: February 2023

AbstractThe efficacy of anteriolateral versus anterior–posterior electrode positions in the success of atrial fibrillation's (AF) electrical cardioversion is unclear. Our aim is to perform a meta‐analysis to compare the success rate of both electrode positions. PUBMED, WOS, OVID, and SCOPUS were searched. Inclusion criteria were clinical trials that compared anterior–lateral with anterior–posterior electrodes in external cardioversion of AF. After the full‐text screening, 11 trials were included in the analysis. The total number of patients included in the study is 1845. The pooled analysis showed a statistically significant association between anterior–lateral electrode and increased cardioversion rate of AF (odds ratio [OR] = 1.40, 95% confidence interval [CI] = 1.02–1.92, p = .04). Subgroup analysis revealed a statistically significant association between the anterior–lateral electrode and increased cardioversion rate of AF in subgroups of less than five shocks, patients with 60 years old or more and patients with left atrial (LA) diameter >45 mm (OR = 1.72, 95% CI = 1.17–2.54, p = .006), (OR = 1.73, 95% CI = 1.18–2.54, p = .005), and (OR = 1.86, 95% CI = 1.04–3.34, p = .04), respectively. Anteriolateral electrode is more effective than anterior–posterior electrode in external cardioversion of AF, particularly in patients who have received less than 5 shocks, are 60 years old or older and have a LA diameter greater than 45 mm.