bluuebunny/crossref_metadata_2025_split huggingface dataset:
Biliary atresia with rare associations: a case report and literature review
Authors: Zaben Basel A. , Abualrub Ahmad M. , Malhes Waleed M. , Barabrah Anas M. , Tuqan Anas R. , Tahhan Ibrahem A. , Amro Wael 
Published: August 2024

Introduction and importance:
Biliary atresia is a rare, progressive cholangiopathy that affects newborns, causing jaundice and other manifestations of hyperbilirubinemia. The incidence is higher in Asia than in Europe. The only available treatment is a surgical operation called Kasai portoenterostomy. In this case, the authors highlighted rare congenital anomalies that came with biliary atresia.

Case presentation:
A 10-day-old male infant was admitted to the hospital due to recurrent vomiting, yellowish skin, and scleral icterus. Laboratory investigations revealed elevated total serum and direct bilirubin levels. An atrophic gallbladder was observed on ultrasound. Intrahepatic cholangiography confirmed the diagnosis of biliary atresia, leading to the performance of a Kasai procedure. Additionally, the patient had intestinal malrotation and volvulus, which were managed with a Ladd’s procedure. Following surgery, there was notable improvement in liver enzymes and bilirubin levels, and the patient was discharged after 7 days. The infant has been initiated on oral vitamins, ursodeoxycholic acid, and antibiotics.

Clinical discussion:
Biliary atresia is a challenging condition characterized by progressive narrowing and fibrosis of the biliary tree. It is rarely associated with rare congenital anomalies like situs inversus totalis, intestinal malrotation, and volvulus. Diagnosis involves abdominal ultrasound and MRCG. The biliary atresia was managed by the Kasai procedure and the intestinal malrotation, and volvulus were managed by Ladd’s procedure.

Conclusion:
This case report highlights the importance of considering rare associations such as situs inversus, intestinal malrotation and volvulus in the diagnosis of biliary atresia in newborn. Early diagnosis and prompt intervention are crucial for optimal outcomes.
The Relationship of a Predictable Ability Measurement Examination and NCLEX-RN Disposition
Authors: Chery Sheila , Larson Erica , Madden Sara , Moran Vicki , Israel Heidi 
Published: August 2024

Background:
End-of-program examinations have been used to determine nursing students’ readiness for the National Licensure Examination for Registered Nurses (NCLEX-RN). The Clinical Judgment Registered Nurse Readiness Examinations (CJE-RN REs) have been adopted by nursing schools for the last 5 years.

Purpose:
The purpose of this study was to validate the use of the CJE-RN REs by examining the relationship with first-time pass rates among nursing students.

Method:
Over 1000 students who took the CJE-RN REs and Next Generation NCLEX-RN from February 1 through August 31, 2023, participated in the study.

Results:
Students who achieved 70% or higher on the CJE-RN REs had a 99% chance of passing the NCLEX-RN on the first attempt.

Conclusion:
The findings of the study support the use of a valid and reliable measurement examination for nursing schools to assist students in preparing for the NCLEX-RN.
Current Status of Magnetic Resonance Imaging Use in Bladder Cancer
Authors: Ahn Hyungwoo 
Published: August 2024

Abstract
Bladder cancer (BC) is a significant global health concern, with over 500,000 new cases and 200,000 deaths annually, emphasizing the need for accurate staging and effective management. Traditional diagnostic techniques, such as cystoscopy and transurethral resection, are fundamental but have limitations in accurately assessing the depth of invasion. These limitations include the possibility of understaging and procedural variability, which can significantly impact treatment decisions. This review focuses on the role of multiparametric magnetic resonance imaging (mpMRI) in the diagnosis and staging of BC, particularly emphasizing the Vesical Imaging-Reporting and Data System (VI-RADS) framework. By enhancing interpretive consistency and diagnostic accuracy, mpMRI and VI-RADS offer detailed visualization of tumor characteristics and depth of invasion, while reducing the need for more invasive traditional methods. These advancements not only improve staging accuracy but also enhance treatment planning, underscoring the importance of advanced imaging in evolving BC management and positively influencing patient outcomes.
A Comparative Assessment of Outcomes Following Mandibular Distraction Osteogenesis and Tongue-Lip Adhesion in Pierre Robin Sequence
Authors: Ai Jeffrey B. , McQueen Ryan G. , McCarty Riley M. , Sharda Mukul , Zagloul Maie , Shakir Sameer , Yi Cleo , Klement Kristen , Lin Kant Y. 
Published: August 2024

The purpose of this study was to assess long-term outcomes of tongue-lip adhesion (TLA) and mandibular distraction osteogenesis (MDO) to resolve upper airway obstruction in patients with Robin sequence (RS). A retrospective cohort study was performed of subjects presenting to a tertiary care pediatric center who underwent either primary MDO or TLA for the treatment of RS between 2004 and 2020. N=59 subjects met inclusion criteria (n=34 MDO, n=25 TLA), and there were no significant differences in preoperative patient characteristics other than age at surgery (MDO 31 d vs. TLA 17 d, P=0.049). Preoperative apnea-hypopnea index (AHI) was similar between cohorts (33.9 and 46.7, P=0.38). Subjects who underwent MDO demonstrated improved AHI on initial postoperative polysomnogram performed at 2 weeks (3.4 vs. 11.6, P=0.014), however AHI at the second postoperative timepoint (270 vs. 142 d, P=0.007) was no different between cohorts (2.8 vs. 2.6, P=0.89). No subject in either group required enteral nutrition or supplemental oxygen at last follow-up. In subjects undergoing MDO, 14.7% demonstrated temporary asymmetric marginal mandibular nerve dysfunction. Forty-seven percent of MDO patients had injury to first primary molars. MDO and TLA both ultimately achieved similar long-term resolution of upper airway obstruction and associated feeding difficulties in patients with Robin sequence. MDO offered a more immediate airway improvement, but the procedure carried a potential risk of neurosensory and dental injury when compared with TLA.
Introduction to the Contemporary Assessment and Recommendations to Enhance Surgical Education and Training
Authors: Ellison Edwin Christopher , Stain Steven C. , Lillemoe Keith D. 
Published: August 2024

Objective:
Provide reports of the Blue Ribbon II Subcommittees.

Background:
The Blue Ribbon Committee II (BRC II) was a panel of 67 experts selected on the basis of experience and leadership in surgical education and training.

Methods:
It was organized into subcommittees, each of which was asked to prepare a manuscript on their findings and recommendations. The BRC II Subcommittees were: Blue Ribbon Committee 1 Review and Assessment, Surgical Workforce, Medical Student Education, Work Life Integration, Resident Education, Goals, Structure and Financing of Training, Education Support and Faculty Development, Research Training, and Educational Technology and Assessment. BRC II used the Delphi approach with consensus defined as equal to or greater than 80% and identified and recommended 31 priorities for surgical education in 2024.

Results:
The initial findings were presented to a general surgery and related specialty resident and fellow focus group for comments and written feedback, and they were asked to prepare a manuscript as well.

Conclusions:
The reports of the Subcommittees of the BRC II provide an assessment and key recommendations concerning surgical education and training in 2024.
Mitochondrial Function After Normothermic Regional Perfusion or Direct Procurement Followed by Hypothermic Oxygenated Machine Perfusion in Heart Transplantation After Circulatory Death
Authors: Berg Katrine , Ertugrul Imran , Seefeldt Jacob M. , Jespersen Nichlas R. , Dalsgaard Frederik F. , Ryhammer Pia K. , Pedersen Michael , Ilkjaer Lars Bo , Hu Michiel , Erasmus Michiel E. , Nielsen Bent R. R. , Bøtker Hans Erik , Moeslund Niels , Westenbrink Daan , Eiskjær Hans 
Published: August 2024

Background.
Strategies to minimize ischemic damage during heart transplantation (HTX) by donation after circulatory death (DCD) are warranted because the inevitable ischemic injury linked to DCD HTX deteriorates mitochondrial respiratory capacity and ultimately graft quality. This study aimed to examine the myocardial mitochondrial function during DCD HTX with hypothermic oxygenated machine perfusion (HOPE) and compare the effect of normothermic regional perfusion (NRP) with that of direct procurement and perfusion (DPP).

Methods.
A porcine DCD HTX model was used with hearts subjected to either DPP (n = 6) or NRP (n = 7) followed by HOPE and orthotopic HTX. Mitochondrial respiratory function was analyzed by high-resolution respirometry in left ventricle biopsies at baseline, after 180 min of HOPE, and after 60 min of reperfusion post-HTX.

Results.
Mitochondrial oxidative phosphorylation (P = 0.0008), respiratory control ratio (P = 0.04), and coupling efficiency (P = 0.04) declined during DCD HTX. Fatty acid oxidation was preserved after 3 h of HOPE with a modest, statistically nonsignificant decline after reperfusion (P = 0.2). Oxidative phosphorylation was inversely correlated with troponin-T levels (r = –0.70, P = 0.0004). No statistically significant difference in mitochondrial respiratory capacity was observed between participants exposed to NRP and DPP.

Conclusions.
Mitochondrial respiratory capacity declined gradually throughout the course of DCD HTX and correlated with the degree of myocardial damage. Following HOPE, the extent of mitochondrial deterioration was comparable between NRP and DPP.
A quantitative analysis of Alzheimer’s Disease and construction of an early Alzheimer’s detection deep learning system (EADDLS) using MRI data via machine learning along with ADmod: spatiotemporal-aware brain-amyloidβ growth model, using deep encoder-decoder networks about MRI
Authors: Mohanty Naitik B , Sarmadi Morteza 
Published: August 2024

AbstractAlzheimer’s disease (AD) presents a significant societal challenge, with no current cure and an increasing prevalence among older adults. This study addresses the pressing need for early detection by harnessing the potential of machine learning applied to longitudinal MRI data. The dataset, sourced from the Open Access Series of Imaging Studies (OASIS) project, comprises MRI records of 150 subjects aged 60 to 96, each scanned at least once. Notably, 72 subjects were classified as ‘Nondemented,’ 64 as ‘Demented,’ and 14 underwent a transition from ‘Nondemented’ to ‘Demented,’ forming the ‘Converted’ category. What we propose is to develop a machine learning sound model capable of predicting the progression of mild cognitive impairment, leveraging key biomarkers extracted from MRI data. The chosen biomarkers include years of education (EDUC), socioeconomic status (SES), Mini-Mental State Examination (MMSE), Clinical Dementia Rating (CDR), Estimated Total Intracranial Volume (eTIV), Normalized Whole Brain Volume (nWBV), and Atlas Scaling Factor (ASF). Prior work in the field is referenced, highlighting studies that predominantly focused on raw MRI data analysis. In contrast, this study introduces a unique approach by utilizing a curated set of biomarkers, allowing for a more targeted and potentially interpretable model. Machine learning models such as Logistic Regression, Support Vector Machine, Decision Tree, Random Forest Classifier, and AdaBoost are employed, with performance measured using established metrics. Information about severity and state are stored during the EADDLS module and used for ADmod. ADmod uses the stored MRI data during the EADDLS module to model the growth of amyloid β build-up in the brain using convolution, resulting in both generalizable approaches and patient-specific approaches. There have been numerous mathematical instantiations to model amyloid β build-up using partial differential equations (or PDEs), these however have remained unincorporated due to prolonged runtimes and storage limitations along with those of pre-set conditions. We propose a novel amyloid β growth model using deep encoder-decoder networks in conjunction with convolution. The study contributes to the growing body of research in early Alzheimer’s detection, offering insights, results, and a discussion of limitations. The conclusion outlines a unique approach, emphasizes the practical implementation of the proposed model, acknowledges limitations, and suggests avenues for further research. Early detection of AD can significantly better the patient’s quality of care and lead to future preventative or risk assessment measures.
Refining gene delivery to skeletal muscle with a dual-strategy approach of muscle-tropic AAV capsids and muscle-specific promoters
Authors: Darbey Annalucia , Jin Wenanlan , Greensmith Linda , Sleigh James N. , Counsell John , Fratta Pietro 
Published: August 2024

AbstractViral vector technologies based on adeno-associated virus (AAV) have demonstrated promising ability to deliver genetic cargo to a range of organsin vivo,with several novel candidates showing clinical efficacy in human trials over the past decade. However, naturally occurring AAV serotypes are limited in their ability to target skeletal muscle, an important gene therapy target for many neuromuscular disorders. This means that high doses of AAV are often required to achieve therapeutically effective doses in muscle. To overcome this, novel AAV vector capsids have been engineered by inserting targeting peptides into the AAV9 capsid variable region VIII (VRIII) to achieve greater muscle transduction efficiency. Here we describe investigation of a newly reported capsid, called MyoAAV1A combined with clinically validated muscle-specific promoters. We profiled the efficiency ofin vivodelivery to murine skeletal muscle and found that the optimal combination of MyoAAV1A capsid with MHCK7 promoter maintains transgene expression in skeletal muscle, and reduces expression in off-target tissues, particularly the liver. This highlights a promising capsid-promoter combination to progress in further preclinical research for skeletal muscle gene therapy.Graphical abstract
Localizedin vivoprodrug activation using radionuclides
Authors: Quintana J.M. , Jiang F. , Kang M. , Valladolid Onecha V. , Könik A. , Qin L. , Rodriguez V.E. , Hu H. , Borges N. , Khurana I. , Banla L.I. , Le Fur M. , Caravan P. , Schuemann J. , Bertolet A. , Weissleder R. , Miller M.A. , Ng T.S.C. 
Published: August 2024

AbstractRadionuclides used for imaging and therapy can show high molecular specificity in the body with appropriate targeting ligands. We hypothesized that local energy delivered by molecularly targeted radionuclides could chemically activate prodrugs at disease sites while avoiding activation in off-target sites of toxicity. As proof-of-principle, we tested whether this strategy of “RAdionuclideinducedDrugEngagement forRelease” (RAiDER) could locally deliver combined radiation and chemotherapy to maximize tumor cytotoxicity while minimizing exposure to activated chemotherapy in off-target sites.MethodsWe screened the ability of radionuclides to chemically activate a model radiation-activated prodrug consisting of the microtubule destabilizing monomethyl auristatin E caged by a radiation-responsive phenyl azide (“caged-MMAE”) and interpreted experimental results using the radiobiology computational simulation suite TOPAS-nBio. RAiDER was evaluated in syngeneic mouse models of cancer using fibroblast activation protein inhibitor (FAPI) agents99mTc-FAPI-34 and177Lu-FAPI-04, the prostate-specific membrane antigen (PSMA) agent177Lu-PSMA-617, combined with caged-MMAE or caged-exatecan. Biodistribution in mice, combined with clinical dosimetry, estimated the relationship between radiopharmaceutical uptake in patients and anticipated concentrations of activated prodrug using RAiDER.ResultsRAiDER efficiency varied by 250-fold across radionuclides (99mTc>177Lu>64Cu>68Ga>223Ra>18F), yielding up to 1.22µM prodrug activation per Gy of exposure from99mTc. Computational simulations implicated low-energy electron-mediated free radical formation as driving prodrug activation. Clinically relevant radionuclide concentrations chemically activated caged-MMAE restored its ability to destabilize microtubules and increased its cytotoxicity by up to 600-fold compared to non-irradiated prodrug. Mice treated with99mTc-FAPI-34 and caged-MMAE accumulated up to 3000× greater concentrations of activated MMAE in tumors compared to other tissues. RAiDER with99mTc-FAPI-34 or177Lu-FAPI-04 delayed tumor growth, while monotherapies did not (P<0.03). Clinically-guided dosimetry suggests sufficient radiation doses can be delivered to activate therapeutically meaningful levels of prodrug.ConclusionThis proof-of-concept study shows that RAiDER is compatible with multiple radionuclides commonly used in nuclear medicine and has the potential to improve the efficacy of radiopharmaceutical therapies to treat cancer safely. RAiDER thus shows promise as an effective strategy to treat disseminated malignancies and broadens the capability of radiopharmaceuticals to trigger diverse biological and therapeutic responses.Abstract Figure
Engineered human iPS cell models reveal altered podocytogenesis and glomerular capillary wall in CHD-associatedSMAD2mutations
Authors: Bhattacharya Rohan , Ward Tarsha , Kalejaiye Titilola D. , Mishra Alekshyander , Leeman Sophia , Arzaghi Hamidreza , Seidman Jonathan G. , Seidman Christine E. , Musah Samira 
Published: August 2024

AbstractEarly developmental programming involves extensive cell lineage diversification through shared molecular signaling networks. Clinical observations of congenital heart disease (CHD) patients carryingSMAD2genetic variants revealed correlations with multi-organ impairments at the developmental and functional levels. For example, many CHD patients present with glomerulosclerosis, periglomerular fibrosis, and albuminuria. Still, it remains largely unknown whetherSMAD2variants associated with CHD can directly alter kidney cell fate, tissue patterning, and organ-level function. To address this question, we engineered human iPS cells (iPSCs) and organ-on-a-chip systems to uncover the role of pathogenicSMAD2variants in kidney podocytogenesis. Our results show that abrogation ofSMAD2causes altered patterning of the mesoderm and intermediate mesoderm (IM) cell lineages, which give rise to nearly all kidney cell types. Upon further differentiation of IM cells, the mutant podocytes failed to develop arborizations and interdigitations. A reconstituted glomerulus-on-a-chip platform exhibited significant proteinuria as clinically observed in glomerulopathies. This study implicates CHD-associatedSMAD2mutations in kidney tissue malformation and provides opportunities for therapeutic discovery in the future.
Dynamics of Bagaza, West Nile, and Usutu viruses in Portugal revealed by long-term serological surveillance in red-legged partridges, 2018-2022
Authors: Fontoura-Gonçalves Catarina , Llorente Francisco , Pérez-Ramírez Elisa , Jiménez-Clavero Miguel Ángel , Costa João Basso , de Mello Gonçalo , Gonçalves David , Alves Paulo Célio , Höfle Ursula , Queirós João 
Published: August 2024

AbstractBackgroundBagaza virus (BAGV) emerged in Portugal in 2021. BAGV and other flaviviruses such as West Nile virus (WNV) and Usutu virus (USUV) represent emerging threats in Europe, yet uncertainties persist regarding their epidemiological status in Portugal.AimThis study aimed to elucidate the epidemiological dynamics of BAGV, WNV, and USUV in Portugal using the red-legged partridge (Alectoris rufa) as a susceptible bird model species.MethodsSerum samples collected from a partridge population in Southern Portugal, between 2018 and 2022, were analysed to characterize exposure to flaviviruses through enzyme-linked immunosorbent assay (ELISA; n=468) and virus neutralization test (VNT; n=433).ResultsELISA test revealed an average seroprevalence of 58.1% for WNV and WNV-cross-reacting antibodies between 2018 and 2022, while 66.3% of individuals tested positive using VNT: 28.8% specific for WNV, 8.1% for BAGV, 2.1% for USUV and 27.2% for “undetermined flaviviruses”. BAGV seroprevalence was first detected in October 2021 (8.7%), alongside an outbreak detection, peaking in November 2021 (26.3%) and persisting until October 2022 (2.3%). WNV antibodies were detected throughout all sampling periods, with the highest seroprevalence in October 2020 (44.8%). USUV seroprevalence was detected until the BAGV outbreak in 2021, peaking in October 2020 (6.9%).ConclusionLong-term serological surveillance of partridges revealed endemic circulation of WNV and sporadic circulation of BAGV and USUV in Portugal. Notably, the highest WNV seroprevalence coincided with the human WNV outbreak in southern Spain in the summer of 2020, highlighting the role of red-legged partridges in the transmission/maintenance cycle and as sentinels of flaviviruses circulation.
Expression quantitative trait locus mapping in recombinant gametes using single nucleus RNA sequencing
Authors: Parker Matthew T. , Amar Samija , Campoy José A. , Krause Kristin , Tusso Sergio , Marek Magdalena , Huettel Bruno , Schneeberger Korbinian 
Published: August 2024

AbstractPhenotypic differences between individuals of a species are often caused by differences in gene expression, which are in turn caused by genetic variation. Expression quantitative trait locus (eQTL) analysis is a methodology by which we can identify such causal variants. Scaling eQTL analysis is costly due to the expense of generating mapping populations, and the collection of matched transcriptomic and genomic information. We developed a rapid eQTL analysis approach using single-cell/nucleus RNA sequencing of gametes from a small number of heterozygous individuals. Patterns of inherited polymorphisms are used to infer the recombinant genomes of thousands of individual gametes and identify how different haplotypes correlate with variation in gene expression. Applied to Arabidopsis pollen nuclei, our approach uncovers bothcis- andtrans-eQTLs, ultimately mapping variation in a master regulator of sperm cell development that affects the expression of hundreds of genes. This establishes snRNA-sequencing as a powerful, cost-effective method for the mapping of meiotic recombination, addressing the scalability challenges of eQTL analysis and enabling eQTL mapping in specific cell-types.