bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identification of novel pathogenic variants of CUBN in patients with isolated proteinuria
Authors: Yang Huihui , He Lanfen , Gong Hongjian , Wan Chunhui , Ding Juanjuan , Liao Panli , Wang Xiaowen 
Published: March 2024

AbstractBackgroundAlthough proteinuria is long recognized as an independent risk factor for progressive chronic kidney diseases, not all forms of proteinuria are detrimental to kidney function, one of which is isolated proteinuria caused by cubilin (CUBN)‐specific mutations. CUBN encodes an endocytic receptor, initially found to be responsible for the Imerslund–Gräsbeck syndrome (IGS; OMIM #261100) characterized by a combined phenotype of megaloblastic anemia and proteinuria.MethodsAfter analyzing their clinical and pathological characterizations, next‐generation sequencing for renal disease genes or whole‐exome sequencing (WES) was performed on four patients with non‐progressive isolated proteinuria. CUBN biallelic pathogenic variants were identified and further analyzed by cDNA‐PCR sequencing, immunohistochemistry, minigene assay, and multiple in silico prediction tools, including 3D protein modeling.ResultsHere, we present four patients with isolated proteinuria caused by CUBN C‐terminal biallelic pathogenic variants, all of which showed no typical IGS symptoms, such as anemia and vitamin B12 deficiency. Their urine protein levels fluctuated between +~++ and estimated glomerular filtration rate (eGFR) were normal or slightly higher. Mild mesangial hypercellularity was found in three children's renal biopsies. A homozygous splice‐site variant of CUBN (c.6821+3 (IVS44) A>G) was proven to result in the exon 44 skipping and premature translation termination by cDNA sequencing and immunohistochemistry. Compound heterozygous mutations were identified among the other three children, including another novel splice‐site variant (c.10764+1 (IVS66) G>A) causing the retention of first 4 nucleotides in intron 66 by minigene assay, two unreported missense mutations (c.4907G>A (p.R1636Q); c. 9095 A>G (p.Y3032C)), and two reported missense mutations in China (c.8938G>A (p.D2980N); c. 9287T>C (p.L3096P)), locating behind the vitamin B12‐binding domain, affecting CUB11, CUB16, CUB22, CUB23, and CUB27 domains, respectively.ConclusionThese results demonstrate that above CUBN mutations may cause non‐progressive and isolated proteinuria, expanding the variant spectrum of CUBN and benefiting our understanding of proteinuria and renal function.
Aberrant splicing caused by a novel KMT2A variant in Wiedemann–Steiner syndrome
Authors: Niu Jianing , Teng Xiaoming , Zhang Junyu 
Published: March 2024

AbstractIntroductionWiedemann–Steiner syndrome (WSS) is a rare autosomal‐dominant disorder caused by KMT2A variants. The aim of this study was to characterize a novel KMT2A variant in a child with WSS and demonstrate integrated diagnostic approaches.MethodsA 3‐year‐old female with developmental delay, distinctive facial features, and anal fistula underwent whole exome sequencing (WES). RNA analysis was performed to assess splicing effects caused by a novel variant.ResultsWES identified novel heterozygous KMT2A c.5664+6T>C variant initially classified as a variant of uncertain significance. RNA analysis provided evidence of aberrant splicing (exon 20 skipping), allowing reclassification to likely pathogenic. The patient exhibited typical WSS features along with a potential novel finding of anal fistula.ConclusionThis report describes a novel non‐canonical splice site variant in KMT2A associated with WSS. RNA analysis was critical for variant reclassification. Detailed phenotypic evaluation revealed common and expanded WSS manifestations. This case highlights the importance of combining clinical assessment, DNA testing, and RNA functional assays for the diagnosis of rare genetic disorders.
Advances in Bio‐Optical Imaging Systems for Spatiotemporal Monitoring of Intestinal Bacteria
Authors: Pan Tongtong , Su Lihuang , Zhang Yiying , Xu Liang , Chen Yongping 
Published: March 2024

AbstractVast and complex intestinal communities are regulated and balanced through interactions with their host organisms, and disruption of gut microbial balance can cause a variety of diseases. Studying the mechanisms of pathogenic intestinal flora in the host and early detection of bacterial translocation and colonization can guide clinical diagnosis, provide targeted treatments, and improve patient prognosis. The use of in vivo imaging techniques to track microorganisms in the intestine, and study structural and functional changes of both cells and proteins, may clarify the governing equilibrium between the flora and host. Despite the recent rapid development of in vivo imaging of intestinal microecology, determining the ideal methodology for clinical use remains a challenge. Advances in optics, computer technology, and molecular biology promise to expand the horizons of research and development, thereby providing exciting opportunities to study the spatio‐temporal dynamics of gut microbiota and the origins of disease. Here, this study reviews the characteristics and problems associated with optical imaging techniques, including bioluminescence, conventional fluorescence, novel metabolic labeling methods, nanomaterials, intelligently activated imaging agents, and photoacoustic (PA) imaging. It hopes to provide a valuable theoretical basis for future bio‐intelligent imaging of intestinal bacteria.
High‐resolution extracellular pH imaging of liver cancer with multiparametric MR using Deep Image Prior
Authors: Dong Siyuan , Shewarega Annabella , Chapiro Julius , Cai Zhuotong , Hyder Fahmeed , Coman Daniel , Duncan James S. 
Published: March 2024

AbstractNoninvasive extracellular pH (pHe) mapping with Biosensor Imaging of Redundant Deviation in Shifts (BIRDS) using MR spectroscopic imaging (MRSI) has been demonstrated on 3T clinical MR scanners at 8
mm3 spatial resolution and applied to study various liver cancer treatments. Although pHe imaging at higher resolution can be achieved by extending the acquisition time, a postprocessing method to increase the resolution is preferable, to minimize the duration spent by the subject in the MR scanner. In this work, we propose to improve the spatial resolution of pHe mapping with BIRDS by incorporating anatomical information in the form of multiparametric MRI and using an unsupervised deep‐learning technique, Deep Image Prior (DIP). Specifically, we used high‐resolution
,
, and diffusion‐weighted imaging (DWI) MR images of rabbits with VX2 liver tumors as inputs to a U‐Net architecture to provide anatomical information. U‐Net parameters were optimized to minimize the difference between the output super‐resolution image and the experimentally acquired low‐resolution pHe image using the mean‐absolute error. In this way, the super‐resolution pHe image would be consistent with both anatomical MR images and the low‐resolution pHe measurement from the scanner. The method was developed based on data from 49 rabbits implanted with VX2 liver tumors. For evaluation, we also acquired high‐resolution pHe images from two rabbits, which were used as ground truth. The results indicate a good match between the spatial characteristics of the super‐resolution images and the high‐resolution ground truth, supported by the low pixelwise absolute error.
Teduglutide improves liver chemistries in short bowel syndrome–associated intestinal failure: Post hoc analysis
Authors: Micic Dejan , Robinson Ian , Kidd Tanya , Terreri Brian , Raphael Bram P. 
Published: March 2024

AbstractBackgroundChronic hepatic complications are common in patients with short bowel syndrome–associated intestinal failure (SBS‐IF). Teduglutide, a glucagon‐like peptide‐2 analogue, demonstrated efficacy in reducing parenteral nutrition and/or intravenous fluid dependence among patients with SBS‐IF in phase 3 clinical studies.MethodsThis was a post hoc analysis of pooled data from two separate randomized, double‐blind, placebo‐controlled, multinational phase 3 clinical studies. Adult patients with SBS‐IF with parenteral nutrition and/or intravenous fluid dependence without liver disease at baseline were randomized to treatment with the glucagon‐like peptide‐2 analogue teduglutide (0.05 or 0.10 mg/kg/day) or placebo subcutaneously once daily for 24 weeks. Mixed‐effects models assessed the baseline predictors of change in liver chemistries.ResultsBetween baseline and week 24, teduglutide treatment (n = 109) was associated with least squares mean reductions in aspartate aminotransferase (–7.51 IU/L; P = 0.014), alanine aminotransferase (–12.15 IU/L; P = 0.002), and bilirubin (–5.03 µmol/L [–0.057 mg/dl]; P < 0.001) compared with that of the placebo (n = 59). These values were independent of reductions in parenteral nutrition and/or intravenous fluid dependence.ConclusionTeduglutide treatment was associated with reductions in liver chemistries by week 24, which is beneficial for patients with SBS‐IF beyond improvements in parenteral nutrition and/or intravenous fluid dependence. Future studies should examine how long‐term teduglutide might mitigate the risk of liver disease in patients with SBS‐IF.
Assessment of the risk of contamination of enteral nutrition bottles based on the simulation of home use conditions and hygiene procedures
Authors: da Silva Isabela T. F. , Medeiros Caroline O. , Leobet Jaqueline , Beux Márcia R. , Rabito Estela I. , Etgeton Schaina A. P. , Fiori Lize S. 
Published: March 2024

AbstractBackgroundHome‐prepared enteral formulations are supplied to patients through enteral nutrition bottles, via a gravity bag or other container, which may be inadequately sanitized and reused more times than recommended by the manufacturer. Such procedures increase the risk of contamination and can compromise the patient's clinical outcome. In light of this, the present study aimed to assess the risk of contamination of enteral nutrition bottles by simulating home use conditions and hygiene procedures.MethodsA simulation of bottle usage was conducted across the three categories of enteral nutrition (homemade enteral preparations, blended enteral preparations, and commercial enteral formulas) for 3 days, using three hygiene procedures reported by caregivers: use of detergent (DET); use of detergent and boiling water (DET+BW); and use of detergent and bleach (DET+BL). The microbiological contamination was determined by the analysis of aerobic mesophilic microorganisms.ResultsThe bottles that were used for 3 days, regardless of the enteral nutrition category, were within the acceptable limit for aerobic mesophilic microorganisms (between <4 and 8.0 colony‐forming units [CFU]/cm2) when sanitized using the DET+BW and DET+BL procedures. The enteral nutrition bottles, when cleaned using the DET procedure during the 3 days of usage, showed low microbial contamination (between <4 and 3.0 CFU/cm2) in blended preparation and commercial formula only.ConclusionThus, regardless of the enteral nutrition category, we found that the bottles can be used for 3 days, as long as the DET+BW or DET+BL hygiene procedure is applied and safe food handling measures are adopted.
The challenges of nursing care for patients with lumbar discectomy: A qualitative study
Authors: Haghighat Sahar , Yazdi Khadijeh , Mahmoodi‐Shan Gholam Reza , Sabzi Zahra 
Published: March 2024

AbstractAimPatients with lumbar disc surgery experience many different problems during their hospital stay. Nurses also face different challenges in providing care to them. Nonetheless, no study has yet specifically addressed these challenges to the best of our knowledge. This study aimed at exploring the challenges of nursing care for patients with lumbar discectomy.DesignThis qualitative study was conducted in 2022 using content analysis.MethodsEight nurses, three patients with lumbar discectomy, and one physician were purposively selected from the neurosurgery wards of the hospitals affiliated to Golestan University of Medical Sciences, Gorgan, Iran. Semi‐structured interviews were conducted for data analysis and the content analysis method recommended by Elo and Kyngas was used for data analysis. The main phases of this method are open coding, grouping, categorization, and abstraction. The MAXQDA 10 software was employed to facilitate data management. Data collection continued to reach data saturation.ResultsThe challenges of nursing care for patients with lumbar discectomy were categorized into eleven subcategories and three main categories, namely dominant routine‐based practice in the healthcare system, futile attempt for team‐based care, and shortages as a major barrier to quality care. There are different personal, professional, financial, structural, and organizational challenges in nursing care for patients with lumbar discectomy which can negatively affect postoperative patient recovery.
Health information sources and health‐seeking behaviours of Filipinos living in medically underserved communities: Empirical quantitative research
Authors: Kawi Jennifer , Fudolig Miguel , Serafica Reimund , Reyes Andrew T. , Sy Francisco , Leyva Erwin William A. , Evangelista Lorraine S. 
Published: March 2024

AbstractAimsTo describe sources of health information and health‐seeking behaviours of adults (aged ≥18) living in medically underserved communities in the Philippines.DesignThis is a secondary, quantitative analysis from a cross‐sectional parent study. Participants completed a 10‐item, self‐report survey on their sources of health information, healthcare providers sought for health and wellness and health‐seeking behaviours when ill. Responses were evaluated across two age groups (<60 vs. ≥60 years) and genders using generalized linear mixed models.ResultsSurveys were completed by 1202 participants in rural settings (64.6% female, mean age 49.5 ± 17.6). Friends and/or family were their key source of health information (59.6%), followed by traditional media (37%) and healthcare professionals (12.2%). For health promotion, participants went to healthcare professionals (60.9%), informal healthcare providers (17.2%) or others (7.2%). When ill, they visited a healthcare professional 69.1% of the time, self‐medicated (43.9%), prayed (39.5%) or sought treatment from a rural health clinic (31.5%). We also found differences in health‐seeking behaviours based on age and gender.ConclusionsOur findings highlight the need to organize programs that explicitly deliver accurate health information and adequate care for wellness and illness. Study findings emphasize the importance of integrating family, friends, media and healthcare professionals, including public health nurses, to deliver evidence‐based health information, health promotion and sufficient treatment to medically underserved Filipinos.ImplicationsNew knowledge provides valuable information to healthcare providers, including public health nurses, in addressing health disparities among medically underserved Filipinos.ImpactThis study addresses the current knowledge gap in a medically vulnerable population. Healthcare professionals are not the primary sources of health information. Approximately one‐third of participants do not seek them for health promotion or treatment even when ill, exacerbating health inequities. More work is necessary to support initiatives in low‐ and middle‐income countries such as the Philippines to reduce health disparities.Reporting MethodWe adhered to the reporting guidelines of STrengthening the Reporting of OBservational studies in Epidemiology (STROBE) for cross‐sectional studies.Patient or Public ContributionThere was no patient or public contribution as our study design and methodology do not make this necessary.
A new optimal error analysis of a mixed finite element method for advection–diffusion–reaction Brinkman flow
Authors: Gao Huadong , Xie Wen 
Published: March 2024

AbstractThis article deals with the error analysis of a Galerkin‐mixed finite element methods for the advection–reaction–diffusion Brinkman flow in porous media. Numerical methods for incompressible miscible flow in porous media have been studied extensively in the last several decades. In practical applications, the lowest‐order Galerkin‐mixed method is the most popular one, where the linear Lagrange element is used for the concentration and the lowest‐order Raviart–Thomas element, the lowest‐order Nédélec edge element and piece‐wise constant discontinuous Galerkin element are used for the velocity, vorticity and pressure, respectively. The existing error estimate of this lowest‐order finite element method is only for all variables in spatial direction, which is not optimal for the concentration variable. This paper focuses on a new and optimal error estimate of a linearized backward Euler Galerkin‐mixed FEMs, where the second‐order accuracy for the concentration in spatial directions is established unconditionally. The key to our optimal error analysis is a new negative norm estimate for Nédélec edge element. Moreover, based on the computed numerical concentration, we propose a simple one‐step recovery technique to obtain a new numerical velocity, vorticity and pressure with second‐order accuracy. Numerical experiments are provided to confirm our theoretical analysis.
Cranial selection in the cremated remains of the Iron Age Golasecca Celtic Civilization (Northwestern Italy, 9‐4th century BCE)
Authors: Larentis Omar , Gorini Ilaria , Locatelli Daniela Patrizia 
Published: March 2024

AbstractThe Golasecca Celtic Civilization (GCC) developed in the Italian Iron Age, between the 9th and 4th centuries BCE, and is characterized by the predominant use of cremation as a funerary ritual in the Italian area. Reconstructing the steps of the cremation ritual in archaeology is a complex challenge, as many anthropic actions leave only faint traces in cremated remains. Within the funerary rituals of prehistoric and protohistoric Italy, the skull has received particular attention from numerous archaeological cultures and civilizations. The context of via Marconi 2020 (Sesto Calende, Varese, northern Italy) has allowed hinting at this practice also in GCC, through the anthropological analysis of cremated remains found in two different but spatially close tombs. The analysis of the cremated remains identified the selection of some elements of the skull of an adult individual and the post‐cranium of a non‐adult individual in the first tomb, and the presence of only the skull of the non‐adult individual in the second tomb. The possibility of a ritual attention of the GCC reserved for the skull has been proven for the first time thanks to the analysis of these subjects. This work provides new data on funerary ritual behaviors of the GCC, allowing for a better understanding within the Italian and European panorama.
Long‐term Quality of Life After Thyroidectomy: Transoral Endoscopic Thyroidectomy Vestibular Approach Versus Transcervical Approach
Authors: Nagururu Nimesh V. , Seo Stefanie , Ding Andy S. , Grogan Raymon , Wolfe Samantha A. , Harbison Richard Alex , Tufano Ralph P. , Russell Jonathon O. 
Published: March 2024

AbstractObjectiveTo compare long‐term health‐related quality of life (HRQOL) after Transoral Endoscopic Thyroidectomy Vestibular Approach (TOETVA) and transcervical approach (TCA) thyroidectomy.Study DesignProspective cohort study.SettingTertiary referral center.MethodsA web‐based survey was distributed to patients at our institution who met the criteria for TOETVA and underwent thyroidectomy by TOETVA or TCA between August 2017 and October 2021. All survey participants were at least 6 months postsurgery. Minors, non‐English speakers, and patients who received concomitant neck dissection or reoperative thyroidectomy were excluded from the study. The survey assessed quality of life through 4 standardized instruments: the Dermatology Life Quality Index (DLQI), the Eating Assessment Tool (EAT‐10), the Voice Handicap Index (VHI‐10), and the Short Form Health Survey (SF‐36).ResultsA total of 108 TOETVA and 129 TCA patients were included in the study. The median age of respondents was 44 (36, 54; 25th, 75th percentile) years and median time from surgery to survey was 35 (22, 45; 25th, 75th percentile) months. TOETVA group DLQI (0.63 vs 0.99; P = .17), VHI‐10 (1.94 vs 1.67; P = .35), EAT‐10 (2.14 vs 2.32; P = .29), SF‐36 physical component (52.25 vs 51.00; P = .25), and SF‐36 mental component (47.74 vs 47.29; P = .87) scores were all similar to those of the TCA group. Scrutinizing specific DLQI questions, individuals in the TOETVA group were less self‐conscious of their skin as compared to the TCA group (Q2; 0.08 vs 0.26, P = .03).ConclusionLong‐term HRQOL after TOETVA is similar to TCA, with significantly lower skin‐related self‐consciousness.
Biologic Therapy in Pediatric Chronic Rhinosinusitis: A Systematic Review
Authors: Rahavi‐Ezabadi Sara , Zhou Sheng , Lee Stella E. , Ference Elisabeth , Magit Anthony , Leuin Shelby , Mohamed Kawthar , Rezaei Nima , Patel Vijay A. 
Published: March 2024

AbstractObjectiveProvide clinicians with current evidence for biologic therapy in children with chronic rhinosinusitis with nasal polyposis (CRSwNP).Data SourcesPubMed, MEDLINE, Cochrane, and clinical trial registries.Review MethodsKey search terms related to biologic therapy in pediatric CRSwNP were identified via a structured query of current medical literature and clinical trial databases.ConclusionsThere is a dearth of active clinical trials and research studies for biologics targeting pediatric CRSwNP. There is an ongoing compassionate‐use clinical trial involving Dupilumab for children with nasal polyps as well as only 1 published work specifically focused on Dupilumab for pediatric CRSwNP in the setting of aspirin‐exacerbated respiratory disease.Implications for PracticeFor children with atopic dermatitis, asthma, and chronic idiopathic urticaria, biologic therapies such as Omalizumab, Dupilumab, and Mepolizumab have gained Food and Drug Administration approval. The role of biologic therapy in pediatric CRSwNP demonstrates significant promise in the comprehensive management of the unified airway. Additional Phase III trials are necessary to broaden clinical indications for children with comorbid conditions and complex sinonasal disease.
Stabilized superhydrophobic composite membranes prepared by electrospinning for oil–water separation
Authors: Wang Xiaohui , Li Xinmei 
Published: March 2024

AbstractIn dealing with the oil–water separation process, improving the oil–water selectivity of the membrane surface and increasing the porosity within the membrane are effective means to achieve durable and efficient oil–water separation. Therefore, polystyrene/polyacrylonitrile‐polyvinylidene fluoride/Polydimethylsiloxane Fe3O4 nanoparticles (PS/PAN‐PVDF/PDMS@Fe3O4) composite membranes with superhydrophobicity and lipophilicity were prepared by electrospinning technique. By controlling the filling concentration of Fe3O4 nanoparticles, a stable superhydrophobic and lipophilic rough structure was constructed, and micro–nano multilayer rough voids existed inside the membrane. The results showed that the composite fiber membrane exhibited exceptional superhydrophobicity (156.2°), thermal stability (338°C), mechanical properties (tensile strength of 3.0 MPa, elongation of 33.9%), and oil adsorption capacity (30–100 g/g). Moreover, even under corrosive environments, this composite fiber membrane maintained its superhydrophobic properties (above 152°) and achieved high oil–water separation efficiency (above 97%). Remarkably, after 40 cycles, the composite membrane could sustain a separation flux of 5000 L m−2 h−1. Consequently, the composite fiber membrane manufactured using this strategy exhibits promising potential for applications in oil–water separation.