bluuebunny/crossref_metadata_2025 huggingface dataset:
Exploring the contribution of carotid artery disease to the onset of non-arteritic ischemic optic neuropathies: A systematic review
Authors: Ripa Matteo , Schipa Chiara , Aceto Paola , Tshomba Yamume , Rizzo Stanislao , Baldascino Antonio , Donati Tommaso
Published: August 2024

Purpose

The role of carotid artery disease (CAD) in the development of various types of ocular arterial occlusive disorders has often been reported. This systematic review aims to evaluate and review the current evidence regarding the role of CAD and the subsequent carotid artery hemodynamic alterations in the development of non-arteritic anterior (NA-AION) and posterior (NA-PION) ischemic optic neuropathy.

Methods

We systematically reviewed studies following Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines. We systematically searched PubMed, Embase, and Scopus databases for relevant studies that clearly assessed the role of CAD and the subsequent carotid artery hemodynamic alterations in the development of NA-AION and NA-PION. All studies that examined the associations between CAD and the development of NA-AION and NA-PION in adults aged 18 years or older were synthesized. Quality assessment using the Newcastle–Ottawa Scale (NOS), and Joanna Briggs Institute (JBI) Critical Appraisal Checklist for Case Reports and Case-Series were also conducted.

Results

Our search identified 1933 manuscripts published in the English language. The number of participants with non-arteritic ischemic optic neuropathy (NA-ION) ranged from 1 to 191, with a total of 478 patients experiencing either NA-AION (410 out of 478), NA-PION (13 out of 478), or a combination of thereof (1 out of 478). The number of participants with NA-ION due to atherosclerosis ranged from 1 to 191, with a total of 376 patients.

Conclusions

Although carotid artery disease may rarely contribute to the development of NA-ION, it should be considered as a possible cause of NA-ION.
Overcoming Barriers to Healthcare Reform: A Call to Action
Authors: Ainslie Marcy , Collins Alicia F. , Hebert Danielle , Moore Jeanne , Schriefer Susan P. , Venzke Margaret Hadro
Published: August 2024

The success of healthcare reform hinges on policymaker, regulator, and administrator actions that shape policies at various levels. These policies can either facilitate or hinder the practice of healthcare professionals and collaborative work environments. It is imperative for all healthcare professionals to fully utilize their education and certification, as fostering an equitable workplace culture is vital for retaining staff and improving access to care. Using nurse practitioners (NPs) as an exemplar, this article aims to specify systemic barriers to healthcare reform and call for policymakers, regulators, and clinical agency administrators to enact change. Barriers to NP practice include restrictive oversight by external stakeholders, financial incentives for indirect billing, and hierarchical constraints that limit NP contributions to the healthcare system. The growing healthcare provider shortage disproportionately impacts primary care and rural settings. NPs are increasingly more likely to fill these roles than medical doctors and have documented positive patient health outcomes. Removing systemic obstacles for NP practice increases access to care. Nursing—the largest healthcare workforce with diverse roles—operates under complex oversight from multiple organizations for licensure, accreditation, certification, and education. The recent trend of external stakeholders influencing and requiring additional oversight has created barriers to nursing practice. Despite national education, accreditation, and certification standards, nursing licensure and practice are increasingly negotiated with external stakeholders and supervised at the state and institutional levels. Supporting all healthcare professionals to practice according to their education and certification can advance healthcare reform, address workforce shortages, increase access to care, and improve health.
From task-general towards task-specific cognitive operations in a few minutes? Working memory performance as an adaptive process
Authors: Jylkkä Jussi , Stickley Zachary , Fellman Daniel , Waris Otto , Ritakallio Liisa , Little Todd D , Salmi Juha , Laine Matti
Published: August 2024

Measurement of cognitive functions is typically based on the implicit assumption that the mental architecture underlying cognitive task performance is constant throughout the task. In contrast, skill learning theory implies that cognitively demanding task performance is an adaptive process that progresses from initial heavy engagement of effortful and task-general metacognitive and executive control processes towards more automatic and task-specific performance. However, this hypothesis is rarely applied to the short time spans of traditional cognitive tasks such as working memory (WM) tasks. We utilised longitudinal structural equation models on two well-powered data sets to test the hypothesis that the initial stages of WM task performances load heavily on a task-general g-factor and then start to diverge towards factors specific to task structure. In line with the hypothesis, data from the first experiment ( N = 296) were successfully fitted in a model with task-initial unity of the WM paradigm-specific latent factors, after which their intercorrelations started to diverge. The second experiment ( N = 201) replicated this pattern except for one paradigm-specific latent factor. These preliminary results suggest that the processes underlying WM task performance tend to progress rapidly from more task-general towards task-specific, in line with the cognitive skill learning framework. Such task-internal dynamics has important implications for the measurement of complex cognitive functions.
Binary Soong grading as a predictor for flexor pollicis longus tendon rupture after distal radial fracture fixation: a retrospective study
Authors: Dijkmans Anjuli L. , Laane Charlotte L. E. , Fernandez Dell’Oca Alberto , Jupiter Jesse B. , Garg Rohit , Bhashyam Abhiram R.
Published: August 2024

This retrospective cohort study evaluates the concordance between Soong grades classified from radiographs and computed tomography (CT) scans and whether a Soong grade ≥1 is associated with flexor pollicis longus (FPL) injury and reoperation incidence. We included 181 patients with 185 dorsally displaced distal radial fractures treated with anterior locking plates. For the analysis of binary Soong grades, grade 0 was compared with grades 1 and 2. A moderate correlation was found between Soong grades on radiographs and CT scans (MCC 0.66). FPL injury occurred in 3% (6/185) and reoperation in 15% (28/185) of cases. There was no statistically significant difference between Soong grades when correlated with the incidence of FPL injury or reoperation, but no patients with a Soong grade 0 had an FPL injury. Binary Soong grading is non-inferior in predictive value and has a better correlation between radiographs and CT scans. Using the Soong classification as a binary system may be easier than a ternary system in clinical practice.

Level of evidence: IV
Analysis of trapeziometacarpal prosthesis cup position with respect to the trapezial anatomy
Authors: Van Royen Kjell , Bogaert Sebastiaan , Goorens Chul Ki , Vanmierlo Bert , Duerinckx Joris , Goubau Jean
Published: August 2024

The purpose of this study was to analyse the anatomy of the trapezium with regard to cup position in trapeziometacarpal replacement and identify those trapeziums that are at risk of cup perforation through the trapezoid articular surface. The width of the proximal and distal articular surface and the height of the trapezium and second metacarpal facet were measured on 96 peritrapezial views reconstructed from computed tomography scans. The trapezoid articular surface of the trapezium (TRAST) angle was calculated, and four different cup designs were virtually positioned centrally in the trapezium and parallel to the proximal articular surface. Risk of perforation was defined as a cup that exceeds the ulnar border of the proximal articular surface. The mean TRAST angle in our study was 33°. Risk of perforation is higher when the second metacarpal facet is smaller than 5 mm and when the TRAST angle is 35° or more. In these cases, the position of the cup should be more radial or more distal.
Study on the Possibility of Developing Functional Source Through Extraction Optimization of Schinus terebinthifolia Bark and Evaluation of Anti-Oxidant, Elastase Inhibitory and Xanthine Oxidase Inhibitory Effect
Authors: Song Seung-Yub , Lee Sung-Ho , Park Jin-Woo , Park Dae-Hun , Cho Seung-Sik
Published: August 2024

Introduction: Schinus terebinthifolia (ST) is a plant belonging to the cashew family Anacardiaceae, native to subtropical and tropical South America. ST is commonly called Brazil pepper and aroeira. Several reports have been made on the biological activities of ST, but studies on leaf extracts, especially lectins, have mainly been reported. Objectives: Our study analyzed the active compounds, antioxidant activities, xanthine oxidase inhibitory, elastase inhibitory, and tyrosinase inhibitory activities of S. terebinthifolia (ST) bark extract. Results: Hot water extracts showed the strongest electron donating ability (84.46%) and tyrosinase inhibitory activity (67.1%). Eighty percent ethanol extract showed the highest reducing power, total phenolic, xanthine oxidase (91.7%) and elastase inhibitory ability (85.44%). Catechin, α–amyrin, β–amyrone and 11-Oxo-.α-amyrin were identified through HPLC and GCMS analysis, while eighty percent extract contained the highest amount of catechin. Catechin, α–amyrin, and β–amyrone are considered to be the main xanthine oxidase inhibitors, while β–amyrone is considered to be the main inhibitor of xanthine oxidase and elastase. Conclusion: Through this study, we reported the basic information that S. terebinthifolia bark extract was used in folk medicine as an anti-inflammatory, anti-gout, and skin disease improvement material. S. terebinthifolia bark extract could be used as an anti-gout natural drug or cosmetic material.
“I Had My Hair Cut Today to Share #Women_Short Cut_Campaign”: Feminist Selfies Protesting Misogyny
Authors: Lee Sunah
Published: August 2024

This study examines the #Women_Short Cut_Campaign movement, a feminist hashtag activism that began on Twitter (rebranded as X in 2023) in 2021. The movement was to defend a South Korean female archer and Olympic gold medalist, An San, from misogynistic attacks that accused her of being a man-hating feminist, given her short hairstyle. Informed by theories about social media’s affordances and affective politics, this article unpacks how women harness social media affordances to combat sexist oppression, particularly in the sociocultural context where women’s hair is fraught with gendered stereotypes and women’s bodies are historically deprived of agency under Neo-Confucian influence. The qualitative textual analysis of 1,849 tweets mostly written in Korean, with a focus on 811 selfies and images, suggests that #Women_Short Cut_Campaign functions as networked, affective counterpublics where oppressed women construct counter-narratives against the attempts to control women’s bodies. The hashtag also challenges the binary of online or offline and stretches the traditional notion of participation by urging digitally networked participants to take action offline. Participants practiced media solidarities by encouraging each other to protect themselves from potential sexual violence. In doing so, they realized affordances for practice through optimizing and contextualizing the original use of technologies. This research contributes to discussions on the sustainability of digital activism and the need for the pluralization and diversification of contemporary feminism. It also offers an opportunity to address the call for decolonial approaches in mobilizing Western-originated theories. Finally, it invites scholars to focus more on the visual in interrogating digital feminist activism.
“The Planet’s Champion” Daniel Bryan: How WWE Uses Sport, Neoliberalism and Colorblind Ideology in Professional Wrestling Narratives
Authors: Figueroa Ever Josue , Peña Vincent , Vasudevan Krishnan
Published: August 2024

Daniel Bryan’s WWE Championship reign, from November 13, 2018, to April 7, 2019, provides an interesting case study to analyze the intersection of politics, mediated sport, neoliberalism, and colorblind ideology in professional wrestling storylines. This study conducts uses textual analysis to uncover how WWE utilized Bryan’s reign to communicate ideologies in their weekly programming. The findings suggest that Bryan’s persona as a villainous leftist “heel,” symbolically positions left-wing politics as antagonistic to the neoliberal values exercised in sports media. Bryan’s defeat at the hands of African wrestler Kofi Kingston, reifies colorblind ideology and neoliberalism through the aesthetics of mediated sport.
Racial and Ethnic Self-Expression Offer a Marketing Opportunity
Authors: Dahlhoff Denise , Pollard Ivan
Published: August 2024

Denise Dahlhoff and Ivan Pollard from The Conference Board find that, in an increasingly diverse America, creating brands and products that help consumers to express their racial and ethnic identity offers companies a growth opportunity, but only when these initiatives are part of a comprehensive, committed diversity strategy.
The Alibaba Challenge: How to Effectively Engage with a Billion Customers
Authors: Wang Yitong , Mintz Ofer , Chen Depin , Chen Kehan
Published: August 2024

Alibaba conducts millions of transactions involving billions of dollars each year. Yitong Wang, Ofer Mintz, Depin Chen, and Kehan Chen describe how the company uses AI-powered chatbots to complement its human resources so as to maximize engagement with its millions of customers and with its vendors.
How Artificial Intelligence Can Keep Classical Music in Business
Authors: Ludwig David Serkin
Published: August 2024

Many fear that AI spells the end of human music and musicians. David Serkin Ludwig explains why new technologies represent an extraordinary opportunity, particularly for classical musicians, to expand their audience and share the art they love.
The new era of turbulence: Peacemaking trends in post-carbon times
Authors: Pospisil Jan
Published: August 2024

Based on an empirical comparison of peace processes in carbon-dependent economies over time, this article investigates the impact of decarbonization and the related declining availability of political finance on peacemaking. While the period of high oil prices in the mid-2000s saw a small number of peace deals that attempted comprehensive settlements, the decline of oil prices in the years from 2014 resulted in a new era of turbulence. The turbulence is characterized by a high number of peacemaking attempts that strongly lean toward conflict management rather than resolution. The reasons for this new turbulence are twofold: the available means for substantial “buy-in,” into a political marketplace by ruling elites in carbon-dependent conflictive political marketplaces have vanished while, at the same time, the strategic interest of international powers in geopolitical stability and their willingness and capability to invest in such stability has declined.
Proactive systematic hemophilia carrier screening: a step toward gender equity in hemophilia care
Authors: Krumb Evelien , Lambert Catherine , Van Damme An , Hermans Cedric
Published: August 2024

Despite numerous efforts to raise awareness, many hemophilia carriers and female persons with hemophilia (PWHs) remain undiagnosed. Between May 2021 and April 2023, we identified potential and obligate carriers of hemophilia A (HA) and hemophilia B (HB) by updating pedigrees of all PWHs followed at the Cliniques universitaires Saint-Luc, Brussels. Retrospective data on previously screened females were collected, including bleeding history, coagulation factor levels, and testing for the proband’s pathogenic variant. In addition, a proactive approach involved sending 125 invitation letters to unscreened or incompletely screened individuals, through related PWHs. In pedigrees of 287 male PWHs (226 HA and 61 HB) and 7 female index patients from 236 families (184 HA and 52 HB), a total of 900 female individuals were identified. Of those, 454 were obligate and/or genetically proven carriers, and 118 were noncarriers. Genetic testing was conducted in 133 obligate, 237 potential, and 4 sporadic carriers, with 190 obligate and 328 potential carriers remaining untested. Among carriers with known factor levels (261/454), 42 HA (23.0%) and 23 HB carriers (29.5%) had a factor level <40 IU/dL. Carriers with a factor deficiency were screened on average 6 years earlier than other females (P = .034). This study, to our knowledge, represents the first systematic effort to identify potential carriers among families of all PWHs within a single center, emphasizing the challenges in comprehensive screening for female individuals genetically linked to one or more PWHs. Such initiatives are vital for achieving equitable access to hemophilia care for all potentially affected individuals, irrespective of gender. This trial was registered at www.ClinicalTrials.gov as #NCT05217992.
Associations between respiratory pathogens and lung function in primary ciliary dyskinesia: cross-sectional analysis from the PROVALF-PCD cohort
Authors: Rubbo Bruna , Kant Avni , Zhang Kewei , Allegorico Annalisa , Basilicata Simona , Boon Mieke , Borrelli Melissa , Calogero Claudia , Carr Siobhán B. , Carroll Mary , Constant Carolina , Castillo Corullón Silvia , Corvol Harriet , Cutrera Renato , Dillenhöfer Stefanie , Emiralioglu Nagehan , Eralp Ela , Eryilmaz Polat Sanem , Gardner Laura , Gokdemir Yasemin , Harris Amanda , Hogg Claire , Karadag Bulent , Kobbernagel Helene , Koerner-Rettberg Cordula , Kouis Panayiotis , Lorent Natalie , Marcou Markella , Mathin June K. , Martinu Vendula , Moreno-Galdó Antonio , Morgan Lucy , Nielsen Kim G. , Omran Heymut , Ozcelik Ugur , Pohunek Petr , Raidt Johanna , Robinson Phil , Rovira-Amigo Sandra , Santamaria Francesca , Schlegtendal Anne , Tamalet Aline , Thouvenin Guillaume , Ullmann Nicola , Walker Woolf , Yiallouros Panayiotis , Kuehni Claudia E. , Latzin Philipp , Beydon Nicole , Lucas Jane S.
Published: August 2024

Introduction

Respiratory pathogens are frequently isolated from airway samples in primary ciliary dyskinesia (PCD) patients. Few studies have investigated associations between these pathogens and lung function, with current management based on evidence from cystic fibrosis. We investigated the association between commonly isolated respiratory pathogens and lung function in PCD patients.

Methods

Using a cross-sectional design, we prospectively collected clinical and concurrent microbiology data from 408 participants with probable or confirmed PCD, aged ≥5 years, from 12 countries. We used Global Lung Function Initiative 2012 references to calculate forced expiratory volume in 1 s (FEV1) z-scores. For 351 patients (86%) with complete data, we assessed the association of the four most frequently isolated pathogens with lung function by fitting multilevel linear models with country as random intercept, adjusted for age at diagnosis, age at lung function, use of antibiotic prophylaxis and body mass index z-scores.

Results

Individuals withPseudomonas aeruginosagrowth in culture had significantly lower FEV1z-scores (β= −0.87, 95% CI −1.40– −0.34), adjusted for presence ofHaemophilus influenzae, methicillin-sensitiveStaphylococcus aureusandStreptococcus pneumoniae, and for covariates. When stratified by age, associations remained strong for adults but not for children. Results were similar when ciliary defects by transmission electron microscopy were included in the models and when restricting analysis to only confirmed PCD cases.

Conclusions

We found thatP. aeruginosawas associated with worse lung function in individuals with PCD, particularly adults. These findings suggest that it is prudent to aim forP. aeruginosaeradication in the first instance, and to treat exacerbations promptly in colonised patients.
Effects of nintedanib on circulating biomarkers of idiopathic pulmonary fibrosis
Authors: Jenkins R. Gisli , Cottin Vincent , Nishioka Yasuhiko , Noth Imre , White Eric S. , Ittrich Carina , Diefenbach Claudia , Rohr Klaus B. , Selman Moisés , Maher Toby M.
Published: August 2024

Background

Biomarkers that change in response to nintedanib in subjects with idiopathic pulmonary fibrosis (IPF) would be valuable. We investigated the effects of nintedanib on circulating biomarkers in subjects with IPF in the INMARK trial.

Methods

Subjects with IPF were randomised 1:2 to receive nintedanib 150 mg twice daily or placebo for 12 weeks, after which all patients received open-label nintedanib for 40 weeks. Fold changes in adjusted mean levels of circulating biomarkers were analysed using a linear mixed model for repeated measures.

Results

346 subjects were treated (116 randomised to nintedanib, 230 to placebo). Surfactant protein D (SP-D) and cancer antigen 125 (CA-125), markers of epithelial injury, decreased in subjects treated with nintedanibversusplacebo. Fold changes from baseline in SP-D at week 12 corresponded to a 4% decrease and 3% increase in the nintedanib and placebo groups, respectively (ratio 0.94, 95% CI 0.89–0.99; p=0.024). Fold changes in CA-125 at week 12 corresponded to a 22% decrease and 4% increase in the nintedanib and placebo groups, respectively (ratio 0.75, 95% CI 0.71–0.81; p<0.0001). A mediation analysis suggested that 42.1% of the effect of nintedanib on change in forced vital capacity over 12 weeks was attributable to the change in CA-125. A small increase in C3A (collagen 3 degraded by ADAMTS-1/4/8) and a small decrease in C3M (collagen 3 degraded by matrix metalloproteinase-9), markers of extracellular matrix turnover, were observed in subjects treated with nintedanibversusplacebo.

Conclusions

Effects of nintedanib on circulating markers of epithelial dysfunction and collagen degradation, most notably CA-125, were observed in patients with IPF.
Variability in disease severity among cystic fibrosis patients carrying residual-function variants: data from the European Cystic Fibrosis Society Patient Registry
Authors: Mei-Zahav Meir , Orenti Annalisa , Jung Andreas , Kerem Eitan
Published: August 2024

Background

People with cystic fibrosis (CF) variants that exhibit residual function (RF) of the CF transmembrane conductance regulator are considered to have a milder disease; however, the spectrum of CF phenotype within the different RF variants has not been extensively investigated. The aim of the present study was to characterise the spectrum of CF disease severity in people with CF (pwCF) carrying different RF variants, using the European Cystic Fibrosis Society Patient Registry (ECFSPR) data.

Methods

A retrospective cross-sectional and longitudinal cohort study included data from the ECFSPR during 2008–2016. Demographic and clinical characteristics of pwCF carrying different RF variants were compared with the characteristics of pwCF who are homozygous for F508del. Among those with RF, a distinction was made between pwCF carrying class IV or class V variants and pwCF carrying specific RF variants.

Results

Out of 56 701 pwCF in the ECFSPR, 6192 carried RF variants and 22 766 were homozygous for F508del. Class IV/F508del variants were associated with a milder course than class V/F508del; both were milder than pwCF homozygous for F508del. Forced expiratory volume in 1 s % predicted (FEV1pp) declined in childhood in all groups. For adults, the hazard ratio of death for class V/F508delversusclass IV/F508del was 2.14 (95% confidence interval 0.99–4.63, p=0.052). PwCF carrying 3849+10 kb C→T/F508del and pwCF carrying R334W/F508del had age-specific FEV1pp and chronic bacterial colonisation similar to those of pwCF homozygous for F508del.

Conclusion

There is a wide spectrum of disease severity between the different RF variants. Some, such as those carrying 3849+10 kb C→T, have severe disease, similar to that of pwCF homozygous for F508del.
CLDN6 inhibits breast cancer growth and metastasis through SREBP1-mediated RAS palmitoylation
Authors: Jin Qiu , Qi Da , Zhang Mingzi , Qu Huinan , Dong Yuan , Sun Minghao , Quan Chengshi
Published: August 2024

Background

Breast cancer (BC) ranks as the third most fatal malignant tumor worldwide, with a strong reliance on fatty acid metabolism. CLDN6, a candidate BC suppressor gene, was previously identified as a regulator of fatty acid biosynthesis; however, the underlying mechanism remains elusive. In this research, we aim to clarify the specific mechanism through which CLDN6 modulates fatty acid anabolism and its impact on BC growth and metastasis.

Methods

Cell function assays, tumor xenograft mouse models, and lung metastasis mouse models were conducted to evaluate BC growth and metastasis. Human palmitic acid assay, triglyceride assay, Nile red staining, and oil red O staining were employed to investigate fatty acid anabolism. Reverse transcription polymerase chain reaction (RT–PCR), western blot, immunohistochemistry (IHC) assay, nuclear fractionation, immunofluorescence (IF), immunoprecipitation and acyl–biotin exchange (IP-ABE), chromatin immunoprecipitation (ChIP), dual luciferase reporter assay, and co-immunoprecipitation (Co-IP) were applied to elucidate the underlying molecular mechanism. Moreover, tissue microarrays of BC were analyzed to explore the clinical implications.

Results

We identified that CLDN6 inhibited BC growth and metastasis by impeding RAS palmitoylation both in vitro and in vivo. We proposed a unique theory suggesting that CLDN6 suppressed RAS palmitoylation through SREBP1-modulated de novo palmitic acid synthesis. Mechanistically, CLDN6 interacted with MAGI2 to prevent KLF5 from entering the nucleus, thereby restraining SREBF1 transcription. The downregulation of SREBP1 reduced de novo palmitic acid synthesis, hindering RAS palmitoylation and subsequent endosomal sorting complex required for transport (ESCRT)-mediated plasma membrane localization required for RAS oncogenic activation. Besides, targeting inhibition of RAS palmitoylation synergized with CLDN6 to repress BC progression.

Conclusions

Our findings provide compelling evidence that CLDN6 suppresses the palmitic acid-induced RAS palmitoylation through the MAGI2/KLF5/SREBP1 axis, thereby impeding BC malignant progression. These results propose a new insight that monitoring CLDN6 expression alongside targeting inhibition of palmitic acid-mediated palmitoylation could be a viable strategy for treating oncogenic RAS-driven BC.

Graphical Abstract
Navigating global collaboration: challenges faced by the international network on esophageal atresia
Authors: Gottrand Frédéric , Krishnan Usha , Widenmann Anke , Blom Michaela Dellenmark , Dall’Oglio Luigi , Wijnen Rene , van Wijk Michiel , Fruithof JoAnne , von Allmen Daniel , Kovesi Tom , Faure Christophe
Published: August 2024

The International Network on Esophageal Atresia (INoEA) stands as a beacon of collaboration in addressing the complexities of this congenital condition on a global scale. The eleven board members, from various countries (USA, Canada, France, Australia, Italy, Sweden, Germany, and The Netherlands) and backgrounds (pediatric gastroenterology, pediatric surgery, pediatric pulmonology, nursing, and parents) met in a face-to-face symposium in Lille in November 2023, to identify challenges and solutions for improving global collaboration of the network.
Association of prenatal Cleft Lip and Palate ultrasound abnormalities with copy number variants at a single Chinese tertiary center
Authors: Yan Shujuan , Yu Qiuxia , Zhou Hang , Huang Ruibin , Wang You , Ma Chunling , Guo Fei , Fu Fang , Li Ru , Li Fucheng , Jin Xiangyi , Zhen Li , Pan Min , Li Dongzhi , Liao Can
Published: August 2024

Backgroud

A systematic analysis was conducted to investigate the molecular etiology of fetal cleft lip and/or palate (CL/P) and the association between various types of CL/P and copy number variations (CNVs), as well as their impact on birth outcomes.

Methods

In this retrospective study conducted between January 2016 and July 2022, a cohort of pregnancies diagnosed with fetal CL/P was enrolled and comprehensive clinical data for all cases were extracted from our medical record database, including demographic data about the pregnancies, ultrasound findings, results of Chromosomal microarray (CMA), as well as relevant pregnant and perinatal outcomes.

Results

Among the 358 cases, 32 clinically significant variants in 29 (8.1%) fetuses with CL/P were detected by CMA. In 338 singleton pregnancies, the diagnostic yield of CMA in the context of CL/P fetuses was determined to be 7.7% (26/338). CP cases exhibited a relatively higher prevalence of pathogenic/likely pathogenic CNVs at a rate of 25% (3/12), followed by CLP cases at 8.0% (23/288). Notably, the CL group did not demonstrate any pathogenic/likely pathogenic CNV findings among the examined cases (0/38). The diagnostic rate of clinically significant variants was notably higher in the non-isolated CL/P group than in the isolated CL/P group (11/33, 33.3% vs. 15/305, 4.9%, p < 0.001). Within the remaining 20 twin pregnancies, three clinically significant variants (15%) were observed.

Conclusions

This study provides powerful evidence supporting the efficacy of CMA as a valuable tool for facilitating the prenatal genetic diagnosis of fetal CL/P. The presence of CP and CLP in fetal cases demonstrated a relatively higher incidence of pathogenic/likely pathogenic CNVs. Moreover, when these cases were accompanied by additional ultrasound abnormalities, the likelihood of identifying diagnostic CNVs significantly increased. Conversely, cases of CL alone might not be associated with positive CNVs. The present data may significantly enhance prenatal diagnosis accuracy and facilitate informed genetic counseling for cases of fetal CL/P.
Utilizing a balloon sheath and miniprobe for diagnostic endoscopic ultrasound in eosinophilic esophagitis: a case series
Authors: Rabinowitz Simon S. , Candava Rheu , Kady Blair , Arostegui Dalia , Grossman Evan
Published: August 2024

Background

Endoscopic ultrasound (EUS) is a unique example of POCUS, which allows the gastroenterologist to discuss subepithelial pathology immediately after an endoscopy. The challenges that are encountered to create an acoustic interface by adding free water during the endoscopy may be curtailing the full utilization of EUS during endoscopic procedures. Eosinophilic esophagitis (EoE) is a progressive inflammatory condition whose morbidity is related to esophageal wall remodeling. However, in clinical practice, in clinical guidelines, and in many trials, EoE outcomes are based on esophageal eosinophilia and symptoms. Hence, a method to identify and quantitate the thickening of the esophageal wall, could contribute to the management of this disease.

Results

A modification of the approach employed to perform EUS during bronchoscopy was developed. An EUS miniprobe was positioned inside of a water filled balloon sheath. This technique permitted rapid and reproducible images acquisition of the total esophageal wall and its sublayers (mucosa, and submucosa + submucosa, which permitted derivation of the muscle layer). The presented series describes the results from  22 consecutive EoE patients. A full set of measurements from both the mid and distal esophagus were achieved in all EoE patients in an average time of less than 10 minutes.

Conclusions

This pilot study supports further investigations evaluating this economical, convenient, and safe technique to follow EoE patients. In addition, this approach could be potentially employed in all patients who are found to have subepithelial gastrointestinal pathology during routine endoscopic procedures.
Oculomotor behaviors in youth with an eating disorder: findings from a video-based eye tracking task
Authors: Kirkpatrick Ryan H. , Booij Linda , Riek Heidi C. , Huang Jeff , Pitigoi Isabell C. , Brien Donald C. , Coe Brian C. , Couturier Jennifer , Khalid-Khan Sarosh , Munoz Douglas P.
Published: August 2024

Background

The oculomotor circuit spans many cortical and subcortical areas that have been implicated in psychiatric disease. This, combined with previous findings, suggests that eye tracking may be a useful method to investigate eating disorders. Therefore, this study aimed to assess oculomotor behaviors in youth with and without an eating disorder.

Methods

Female youth with and without an eating disorder completed a structured task involving randomly interleaved pro-saccade (toward at a stimulus) and anti-saccade (away from stimulus) trials with video-based eye tracking. Differences in saccades (rapid eye movements between two points), eye blinks and pupil were examined.

Results

Youth with an eating disorder (n = 65,Mage= 17.16 ± 3.5 years) were compared to healthy controls (HC;n = 65,Mage= 17.88 ± 4.3 years). The eating disorder group was composed of individuals with anorexia nervosa (n = 49), bulimia nervosa (n = 7) and other specified feeding or eating disorder (n = 9). The eating disorder group was further divided into two subgroups: individuals with a restrictive spectrum eating disorder (ED-R;n = 43) or a bulimic spectrum eating disorder (ED-BP;n = 22). In pro-saccade trials, the eating disorder group made significantly more fixation breaks than HCs (F(1,128) = 5.33,p = 0.023). The ED-BP group made the most anticipatory pro-saccades, followed by ED-R, then HCs (F(2,127) = 3.38,p = 0.037). Groups did not differ on rate of correct express or regular latency pro-saccades. In anti-saccade trials, groups only significantly differed on percentage of direction errors corrected (F(2, 127) = 4.554,p = 0.012). The eating disorder group had a significantly smaller baseline pupil size (F(2,127) = 3.60,p = 0.030) and slower pro-saccade dilation velocity (F(2,127) = 3.30,p = 0.040) compared to HCs. The ED-R group had the lowest blink probability during the intertrial interval (ITI), followed by ED-BP, with HCs having the highest ITI blink probability (F(2,125) = 3.63,p = 0.029).

Conclusions

These results suggest that youth with an eating disorder may have different oculomotor behaviors during a structured eye tracking task. The oculomotor behavioral differences observed in this study presents an important step towards identifying neurobiological and cognitive contributions towards eating disorders.
Targeting mitochondrial quality control: new therapeutic strategies for major diseases
Authors: Hong Wei-Long , Huang He , Zeng Xue , Duan Chen-Yang
Published: August 2024

Mitochondria play a crucial role in maintaining the normal physiological state of cells. Hence, ensuring mitochondrial quality control is imperative for the prevention and treatment of numerous diseases. Previous reviews on this topic have however been inconsistencies and lack of systematic organization. Therefore, this review aims to provide a comprehensive and systematic overview of mitochondrial quality control and explore the possibility of targeting the same for the treatment of major diseases. This review systematically summarizes three fundamental characteristics of mitochondrial quality control, including mitochondrial morphology and dynamics, function and metabolism, and protein expression and regulation. It also extensively examines how imbalances in mitochondrial quality are linked to major diseases, such as ischemia-hypoxia, inflammatory disorders, viral infections, metabolic dysregulations, degenerative conditions, and tumors. Additionally, the review explores innovative approaches to target mitochondrial quality control, including using small molecule drugs that regulate critical steps in maintaining mitochondrial quality, nanomolecular materials designed for precise targeting of mitochondria, and novel cellular therapies, such as vesicle therapy and mitochondrial transplantation. This review offers a novel perspective on comprehending the shared mechanisms underlying the occurrence and progression of major diseases and provides theoretical support and practical guidance for the clinical implementation of innovative therapeutic strategies that target mitochondrial quality control for treating major diseases.
Intelligent medicine in focus: the 5 stages of evolution in robot-assisted surgery for prostate cancer in the past 20 years and future implications
Authors: Li Jia-Kun , Tang Tong , Zong Hui , Wu Er-Man , Zhao Jing , Wu Rong-Rong , Zheng Xiao-Nan , Zhang Heng , Li Yi-Fan , Zhou Xiang-Hong , Zhang Chi-Chen , Zhang Zi-Long , Zhang Yi-Hang , Feng Wei-Zhe , Zhou Yi , Wang Jiao , Zhu Qi-Yu , Deng Qi , Zheng Jia-Ming , Yang Lu , Wei Qiang , Shen Bai-Rong
Published: August 2024

Robot-assisted surgery has evolved into a crucial treatment for prostate cancer (PCa). However, from its appearance to today, brain-computer interface, virtual reality, and metaverse have revolutionized the field of robot-assisted surgery for PCa, presenting both opportunities and challenges. Especially in the context of contemporary big data and precision medicine, facing the heterogeneity of PCa and the complexity of clinical problems, it still needs to be continuously upgraded and improved. Keeping this in mind, this article summarized the 5 stages of the historical development of robot-assisted surgery for PCa, encompassing the stages of emergence, promotion, development, maturity, and intelligence. Initially, safety concerns were paramount, but subsequent research and engineering advancements have focused on enhancing device efficacy, surgical technology, and achieving precise multi modal treatment. The dominance of da Vinci robot-assisted surgical system has seen this evolution intimately tied to its successive versions. In the future, robot-assisted surgery for PCa will move towards intelligence, promising improved patient outcomes and personalized therapy, alongside formidable challenges. To guide future development, we propose 10 significant prospects spanning clinical, research, engineering, materials, social, and economic domains, envisioning a future era of artificial intelligence in the surgical treatment of PCa.
Identifying enthesitis in the sacroiliac joints in patients with axial spondyloarthritis by readers of varying experience: impact of the learning progress
Authors: Liu Dong , Zhao Jiaoshi , Lin Churong , Liu Budian , Li Jinwei , Zhang Yuxuan , Jin Ou , Gu Jieruo
Published: August 2024

Background

This study aimed to investigate the accuracy of identifying enthesitis along with other inflammatory lesions and structural lesions on the MRI of the sacroiliac joints (SIJ) by readers of varying experience and how training sessions and workshops could help improve the accuracy.

Methods

A total of 224 patients with clinical diagnosis of axial spondyloarthritis who underwent SIJ MRI examinations were retrospectively included in this study. Three readers with 5 years, 3 years and 1 year of experience in musculoskeletal imaging were invited to review the SIJ MRI images independently, while the imaging reports of a senior radiologist (> 10 years’ experience) were used as reference. After the first round of image review, a training session and a workshop on the imaging of SIJ in spondyloarthritis were held and the three readers were asked to review the images in the second round. We calculated the accuracy of identifying inflammatory and structural lesions of the three readers as well as the intra-reader agreement.

Results

Enthesitis could be observed in 52.23% of the axial spondyloarthritis patients, while 81.58% of the patients with enthesitis were accompanied with bone marrow edema. All the three readers showed better accuracy at identifying structural lesions than inflammatory lesions. In the first round of image review, the three readers only correctly identified 15.07%, 2.94% and 0.74% of the enthesitis sites. After the training session and workshop, the accuracy rose to 61.03%, 39.34% and 20.22%. The intra-reader agreement of enthesitis calculated as Cohen’s kappa was 0.23, 0.034 and 0.014, respectively.

Conclusion

Readers with less experience in musculoskeletal imaging showed lower accuracy of identifying inflammatory lesions, notably enthesitis. Training sessions and workshops could help improve the diagnostic accuracy of the junior readers.
Impact of COVID-19 pandemic on the care of people with epilepsy and predictors of epilepsy worsening: Aswan/upper Egypt hospital-based study
Authors: Khedr Eman M. , Haridy Nourelhoda A. , Ahmed Gellan K. , Othman Mohamed Nemr , Elsoghier Abdelrahman S. , Al Fawal Bastawy M.
Published: August 2024

Background

During the Coronavirus disease pandemic “COVID-19”, epilepsy was one of many chronic neurological diseases in which treatment was neglected. This study aimed to evaluate the impact of the pandemic on people with epilepsy and identify potential predictors of seizure worsening through a face-to-face hospital survey. During the study period, 245 participants were recruited: 124 people with epilepsy (PwE) and 121 people without epilepsy (PwoE) age and sex-matched. Both groups were compared using sociodemographic COVID-19-related questionnaires and Hamilton Anxiety and Depression scales. PwE also completed epilepsy-specific questionnaires. Subsequently, we subdivided the PwE group into people with worsening epilepsy (WPwE) and those without (NWPwE).

Results

Compared with PwoE, PwE had significantly higher rates of COVID-19 infection (59.7% versus 41.3%, p = 0.004), and 69.4% of them (86/124) reported WPwE. WPwE had significantly higher rates of COVID-19 infection (75.6% versus. 23.7%, p < 0.0001), emergency room visits (69.8% versus 42.1%, p = 0.004), delayed neurology appointments (69.8% versus 42.1%, p = 0.004), and difficulties accessing medication (69.8% versus 47.4%, p = 0.02) and being less likely to be vaccinated (39.5% versus 68.4%, p = 0.003) than NWPwE. Depression and anxiety rates increased significantly during the pandemic compared with prior pandemics in both PwE and PwoE (p < 0.0001 for each). Moreover, the WPwE showed a significant increase in depression rates (33.7–60.5%, p < 0.0001) and higher mean anxiety scores compared to the NWPwE (p = 0.029). A multivariate binary logistic regression analysis showed that having a COVID-19 infection (AOR: 12.086, p < 0.0001), being laid off (AOR: 0.024, p = 0.001), or having more seizures before the pandemic (AOR: 3.366, p = 0.009) were all strong predictors of seizures getting worse.

Conclusions

Nearly 69% of PwE experienced pandemic-related seizures worsening, along with deterioration of mental health. Factors such as personal COVID-19 infection, unemployment, work interruption, and higher pre-COVID seizure frequency were identified as key predictors of seizure worsening. Mitigating these predictors could strengthen resilience among PwE during future widespread crises.

Trial registration clinicaltrials.gov, NCT05205590. Registered on October 25, 2021—Retrospectively registered, https://classic.clinicaltrials.gov/ct2/show/NCT05205590
The utility of pentraxin 3 and platelet-derived growth factor receptor beta as non-invasive biomarkers for prediction of cardiovascular risk in MAFLD patients
Authors: Badran Hanaa , Elsabaawy Maha , Magdy Mahmoud , Ghanem Samar , Said Mohammed , Torky Mohamed Hamdy , Samir Tamer
Published: August 2024

Background

Metabolic-associated fatty liver disease (MAFLD) has emerged as the predominant form of chronic liver disease globally linked with heightened cardiovascular disease (CVD) risk, the leading cause of mortality among affected individuals.

Aim

This study aims to assess serum PTX3 (pentraxin 3) and platelet-derived growth factor receptor beta (PDGFRβ) as potential non-invasive biomarkers for predicting cardiovascular risk (CVR) in MAFLD patients.

Method

A case–control investigation encompassing 84 MAFLD patients without prior CVD history and 30 age- and gender-matched healthy controls was conducted. Both cohorts underwent comprehensive laboratory and radiological evaluations. CVR was evaluated through common carotid artery intima-media thickness (IMT), Framingham risk score, and QRISK 2 score. The efficacy of two ELISA biomarkers PTX3 and PDGFRβ was examined for correlation with CVR in MAFLD patients.

Results

MAFLD patients displayed significantly heightened levels of PTX3 and PDGFβ compared to healthy controls (P < 0.001, P = 0.016, respectively). PDGFβ exhibited a notably positive correlation with the Framingham score (P = 0.016), while no significant correlation was observed with pentraxin 3 (P = 0.061). Univariate and multivariate analyses identified diabetes mellitus (DM) (P < 0.001*), hypertension (P = 0.005), visceral fat (P < 0.001*), waist/hip circumference (P = 0.04), and PDGFβ (P = 0.03) as robust predictors of CVR, with PTX3 demonstrating limited prognostic utility.

Conclusion

PDGFβ emerged as a promising early non-invasive predictor of CVR in MAFLD patients, highlighting its potential role in guiding tailored preventive interventions, while PTX3 exhibited a modest impact warranting further investigation.
Redo isolated tricuspid valve replacement in a patient with isolated persistent left superior vena cava: a case report
Authors: Yamada Ryotaro , Okamura Homare , Iwasaki Rie , Yamaguchi Atsushi
Published: August 2024

Background

Redo isolated tricuspid valve surgery has high in-hospital mortality and morbidity and is a challenging procedure. We report a successful case of redo isolated tricuspid valve replacement for structural valve deterioration of a bioprosthesis in a patient with isolated persistent left superior vena cava (PLSVC).

Case presentation

An 81-year-old man with a history of tricuspid valve replacement using a porcine bioprosthetic valve 9 years previously presented with dyspnea on exertion. Right heart failure due to worsening transvalvular leakage in the bioprosthetic tricuspid valve was considered to be the cause of his symptoms, and the decision was made to replace the tricuspid valve. An isolated PLSVC is considered to be an obstacle in right-sided heart valve surgery. The PLSVC was located deep to the left of the pulmonary artery and, after some effort, was cannulated by obtaining an excellent surgical view using retraction sutures on the left side of the pericardium. Cardiopulmonary bypass was initiated after cannulation of the ascending aorta, PLSVC, and femoral vein. After cross-clamping of the ascending aorta, cold blood cardioplegic arrest was induced under moderate hypothermia, and the PLSVC and inferior vena cava were snared. The right atrium was opened and the prosthetic tricuspid valve was examined. One of the leaflets was shortened, which appeared to cause the transvalvular leak. The prosthetic valve was explanted, the annulus was trimmed, and a new bioprosthetic valve was implanted. The postoperative course was uneventful.

Conclusions

It is important to treat structural valve deterioration of a prosthetic tricuspid valve in a timely manner. We hope that our intervention timing and surgical strategy can help surgeons to consider early intervention in similar cases, even if there are surgical obstacles such as isolated PLSVC.
Examining and Supporting Mechanistic Explanations Across Chemistry and Biology Courses
Authors: Shiroda Megan , Franovic Clare G.-C. , de Lima Joelyn , Noyes Keenan , Babi Devin , Beltran-Flores Estefany , Kesh Jenna , McKay Robert L. , Persson-Gordon Elijah , Cooper Melanie M. , Long Tammy M. , Schwarz Christina V. , Stoltzfus Jon R.
Published: August 2024

Constructing Mechanistic Explanations (MEs) can help students elucidate complex phenomenon using disciplinary core ideas. Using student explanations from biology and chemistry courses, we examined relationships among MEs at different scales. Constructing MEs at smaller scales and including molecular scale factors correlated to MEs at larger scales.