bluuebunny/crossref_metadata_2025_split huggingface dataset:
808. ROUX-EN- Y GASTRIC BYPASS FOR REFRACTORY SEVERE GERD AFTER PROXIMAL GASTRECTOMY
Authors: Beltrán Pablo Vázquez , Cuéllar Elías Rodríguez , Caballero Javier Martínez , Montoro Dra Lucía Lavin , Fernández Dra Clara Fernández , Fajardo David Navarro , Lázaro Felipe Chacón , Herrero Eduardo Ferrero 
Published: September 2024

Abstract

Roux-en- Y gastric bypass for refractory severe GERD after proximal gastrectomy

Category
Gastro-esophageal reflux and hiatal hernia

Background
This is the case of a 27-year-old male diagnosed with achalasia. During dilation of the gastroesophageal junction a iatrogenic esophageal perforation occurred. Therefore, a polar gastrectomy with stapling of the lesser curvature and resection of the distal esophagus with esophagogastric anastomosis was performed. After the surgery the patient experienced symptoms of severe reflux unresponsive to PPI. Therefore, a subtotal gastrectomy with pouch construction and Roux-en-Y gastrojejunostomy was indicated.

Methods
We present an intraoperative video showing the surgical technique.

Results
The postoperative period was uneventful, with favorable response to gradual reintroduction of oral intake. The patient was discharged on the 9th POD. After a 12-month follow up the patient remains asymptomatic.

Conclusions
Surgery is currently the gold standard treatment for refractory reflux. In this case, the creation of a gastric pouch with Roux-en-Y bypass ensures the resolution of the symptoms of GERD as well as the gastric delay. Preservation of the gastroepiploic vessels to ensure an optimal gastric pouch perfusion is mandatory
https://we.tl/t-kLUqi4AqqB
Resection of a giant right coronary artery aneurysm and reconstruction with a saphenous vein graft: a 20-year follow-up—case report
Authors: Halyckyj-Smith Joshua , Rose David 
Published: September 2024

Abstract

Background
Coronary artery aneurysms (CAAs) are uncommon and can cause complications such as thrombosis, vessel rupture, or distal embolization. Rarely, CAAs are classified as ‘giant’, although the defining diameter is debated. The predominant cause of CAAs is atherosclerotic disease. Independently, CAAs constitute an estimated 5-year survival of 71%.

Case summary
We report the case of a 56-year-old female who presented 20 years ago with a chest infection when a murmur was auscultated on examination. Subsequently, a coronary angiogram was performed, demonstrating an extensive aneurysm of the right coronary artery (RCA). The aneurysmal segment of the RCA was resected, and a length of saphenous vein was utilized in its reconstruction. Twenty years later, the patient re-presented with dyspnoea, indicating repeat investigations; coronary angiography demonstrated a vein graft 20 years post-reconstruction that is almost indistinguishable from a native RCA.

Discussion
The optimal management strategy for CAAs is debatable, and there are no clear guidelines. However, surgical management is generally preferred in cases of GCAAs, which was also the case for this patient. This reconstruction procedure, involving resection of the aneurysmal segment of the RCA and reconstruction with a saphenous vein graft, proved to be a durable and reliable approach, with the saphenous vein graft remaining patent for over 20 years. The 20-year follow-up provides valuable insight into the long-term durability of surgical intervention, allowing for comprehensive assessment of the durability and reliability of this procedure.
Linkage equilibrium between rare mutations
Authors: Lyulina Anastasia S , Liu Zhiru , Good Benjamin H 
Published: September 2024

Abstract
Recombination breaks down genetic linkage by reshuffling existing variants onto new genetic backgrounds. These dynamics are traditionally quantified by examining the correlations between alleles, and how they decay as a function of the recombination rate. However, the magnitudes of these correlations are strongly influenced by other evolutionary forces like natural selection and genetic drift, making it difficult to tease out the effects of recombination. Here, we introduce a theoretical framework for analyzing an alternative family of statistics that measure the homoplasy produced by recombination. We derive analytical expressions that predict how these statistics depend on the rates of recombination and recurrent mutation, the strength of negative selection and genetic drift, and the present-day frequencies of the mutant alleles. We find that the degree of homoplasy can strongly depend on this frequency scale, which reflects the underlying timescales over which these mutations occurred. We show how these scaling properties can be used to isolate the effects of recombination and discuss their implications for the rates of horizontal gene transfer in bacteria.
NEK1 haploinsufficiency worsens DNA damage, but not defective ciliogenesis, in C9ORF72 patient-derived iPSC-motoneurons
Authors: Santangelo Serena , Invernizzi Sabrina , Sorce Marta Nice , Casiraghi Valeria , Peverelli Silvia , Brusati Alberto , Colombrita Claudia , Ticozzi Nicola , Silani Vincenzo , Bossolasco Patrizia , Ratti Antonia 
Published: September 2024

Abstract
The hexanucleotide G4C2 repeat expansion (HRE) in C9ORF72 gene is the major cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), leading to both loss- and gain-of-function pathomechanisms. The wide clinical heterogeneity among C9ORF72 patients suggests potential modifying genetic and epigenetic factors. Notably, C9ORF72 HRE often co-occurs with other rare variants in ALS/FTD-associated genes, such as NEK1, which encodes for a kinase involved in multiple cell pathways, including DNA damage response and ciliogenesis. In this study, we generated induced pluripotent stem cells (iPSCs) and differentiated motoneurons (iPSC-MNs) from an ALS patient carrying both C9ORF72 HRE and a NEK1 loss-of-function mutation to investigate the biological effect of NEK1 haploinsufficiency on C9ORF72 pathology in a condition of oligogenicity. Double mutant C9ORF72/NEK1 cells showed increased pathological C9ORF72 RNA foci in iPSCs and higher DNA damage levels in iPSC-MNs compared to single mutant C9ORF72 cells, but no effect on DNA damage response. When we analysed the primary cilium, we observed a defective ciliogenesis in C9ORF72 iPSC-MNs which was not worsened by NEK1 haploinsufficiency in the double mutant iPSC-MNs. Altogether, our study shows that NEK1 haploinsufficiency influences differently DNA damage and cilia length, potentially acting as a modifier at biological level in an in vitro ALS patient-derived disease model of C9ORF72 pathology.
Deep learning model optimization of 110 kV line ice-melting technology without power failure
Authors: Jia Laiqiang , Zhang Tianyi , Guo Ziqiang , Liu Ru , Duan Weiquan 
Published: September 2024

Abstract
In order to achieve ice disaster warning for transmission lines, this article proposes an improved method based on particle swarm optimization (PSO) backpropagation (BP) neural network for ice thickness prediction. The study selects multiple factors such as temperature, humidity, and wind speed, introducing neural network prediction methods to explore the situation of ice thickness on transmission lines. The predictions from this model demonstrate closer alignment with actual values and achieve superior prediction accuracy compared to both the BP model and the PSO-BP model, and the average absolute percentage error of improved PSO (IPSO)-BP is 0.007. Using a 110 kV line as the experimental object, the study conducts ice melting without power outage by changing of the grid currents. Additionally, this predictive model method is employed for ice warnings, assessing ice coverage levels by computing the ice coverage ratio. This facilitates precise control over the activation and deactivation of ice melting devices. The method proposed in this study addresses the issue of low accuracy resulting from the singular data types used in traditional early warning models. Future efforts should focus on further validating the applicability of this method under varying climatic and environmental conditions to achieve real-time, precise control over line ice melting.
Evidence for the Contribution of the miR-206/BDNF Pathway in the Pathophysiology of Depression
Authors: Zheng Ya-Bin , Jin Xiang 
Published: September 2024

Abstract
Depression is a complex disorder with substantial impacts on individual health and has major public health implications. Depression results from complex interactions between genetic and environmental factors. Epigenetic mechanisms, including DNA methylation, microRNAs (miRNAs), and histone modifications, can produce heritable phenotypic changes without a change in DNA sequence and recently were proven to mediate lasting increases in the risk of depression following exposure to adverse life events. Of these, miRNAs are gaining attention for their role in the pathogenesis of many stress-associated mental disorders, including depression. One such miRNA is microRNA-206 (miR-206), which is a critical candidate for increasing the susceptibility to stress. Although miR-206 is thought to be a typical muscle-specific miRNA, it is expressed throughout the brain, particularly in the hippocampus and prefrontal cortex. Until now, only a few studies have been conducted on rodents to understand the role of miR-206 in stress-related abnormalities in neurogenesis. However, the precise underlying molecular mechanism of miR-206–mediated depression-like behaviors remains largely unknown. Here, we reviewed recent advances in the field of biomedical and clinical research on the role of miR-206 in the pathogenesis of depression from studies using different tissues and various experimental designs and described how abnormalities in miR-206 expression in these tissues can affect neuronal functions. Moreover, we focused on studies investigating the brain-derived neurotrophic factor (BDNF) as a functional target of miR-206, where miR-206 has been implicated in the pathogenesis of depression by suppressing the expression of the BDNF. In summary, these studies confirm the existence of a tight correlation between the pathogenesis of depression and the miR-206/BDNF pathway.
Zero-Dimensional Shimura Varieties and Central Derivatives of Eisenstein Series
Authors: Sankaran Siddarth 
Published: September 2024

Abstract
We formulate and prove a version of the arithmetic Siegel–Weil formula for (zero dimensional) Shimura varieties attached to tori, equipped with some additional data. More precisely, we define a family of “special” divisors in terms of Green functions at archimedean and non-archimedean places and prove that their degrees coincide with the Fourier coefficients of the central derivative of an Eisenstein series. The proof relies on the usual Siegel–Weil formula to provide a direct link between both sides of the identity, and in some sense, offers a more conceptual point of view on prior results in the literature.
Epistemologies of Domination: Colonial Encounters, Heterology, and Postcolonial Pedagogy
Authors: Sajed Alina 
Published: September 2024

AbstractThis article theorizes and establishes some of the outlines of an epistemology of domination. An epistemology of domination interpellates the question of “how/what does the oppressor know about the oppressed?” Drawing on several studies of cultural encounters such as Ibrahim Abu-Lughod's The Arab Rediscovery of Europe, Ashis Nandy's The Intimate Enemy, and Zeynep Çelik's Europe Knows Nothing about the Orient, the discussion explores epistemic tropes around colonial encounters: the power and politics of representation; the burden of belatedness/the denial of coevalness; the over-emphasizing of Western agency. Wlad Godzich states that “Western Thought has always thematized the other as a threat to be reduced, as a potential same-to-be, a yet-not-same.” My discussion here accepts this premise but only partially, and asks the question: does domination always entail the projection of alterity as a threat, or is there a wider spectrum of epistemic projections? How does the other encounter and experience the Western self, and does such encounter modify hegemonic epistemological paradigms? Following Michel de Certeau's assertion that “what is near masks a foreignness,” I seek to complicate the relation between selfhood and otherness in the colonial encounter, and its entanglements with colonial violence. What pedagogical moments emerge from such encounters? And how do such pedagogical moments structure postcolonial epistemologies?
Socioeconomic disparities in kidney transplant access for patients with end-stage kidney disease within the All of Us Research Program
Authors: Wang Jiayuan , Cho Kellie C , Tantisattamo Ekamol 
Published: September 2024

Abstract

Objectives
Disparity in kidney transplant access has been demonstrated by a disproportionately low rate of kidney transplantation in socioeconomically disadvantaged patients. However, the information is not from national representative populations with end-stage kidney disease (ESKD). We aim to examine whether socioeconomic disparity for kidney transplant access exists by utilizing data from the All of Us Research Program.

Materials and Methods
We analyzed data of adult ESKD patients using the All of Us Researcher Workbench. The association of socioeconomic data including types of health insurance, levels of education, and household incomes with kidney transplant access was evaluated by multivariable logistic regression analysis adjusted by baseline demographic, medical comorbidities, and behavioral information.

Results
Among 4078 adults with ESKD, mean diagnosis age was 54 and 51.64% were male. The majority had Medicare (39.6%), were non-graduate college (75.79%), and earned $10 000-24 999 annual income (20.16%). After adjusting for potential confounders, insurance status emerged as a significant predictor of kidney transplant access. Individuals covered by Medicaid (adjusted odds ratio [AOR] 0.45; 95% confidence interval [CI], 0.35-0.58; P-value &lt; .001) or uninsured (AOR 0.21; 95% CI, 0.12-0.37; P-value &lt; .001) exhibited lower odds of transplantation compared to those with private insurance.

Discussion/Conclusion
Our findings reveal the influence of insurance status and socioeconomic factors on access to kidney transplantation among ESKD patients. Addressing these disparities through expanded insurance coverage and improved healthcare access is vital for promoting equitable treatment and enhancing health outcomes in vulnerable populations.
Reliable generation of privacy-preserving synthetic electronic health record time series via diffusion models
Authors: Tian Muhang , Chen Bernie , Guo Allan , Jiang Shiyi , Zhang Anru R 
Published: September 2024

Abstract

Objective
Electronic health records (EHRs) are rich sources of patient-level data, offering valuable resources for medical data analysis. However, privacy concerns often restrict access to EHRs, hindering downstream analysis. Current EHR deidentification methods are flawed and can lead to potential privacy leakage. Additionally, existing publicly available EHR databases are limited, preventing the advancement of medical research using EHR. This study aims to overcome these challenges by generating realistic and privacy-preserving synthetic EHRs time series efficiently.

Materials and Methods
We introduce a new method for generating diverse and realistic synthetic EHR time series data using denoizing diffusion probabilistic models. We conducted experiments on 6 databases: Medical Information Mart for Intensive Care III and IV, the eICU Collaborative Research Database (eICU), and non-EHR datasets on Stocks and Energy. We compared our proposed method with 8 existing methods.

Results
Our results demonstrate that our approach significantly outperforms all existing methods in terms of data fidelity while requiring less training effort. Additionally, data generated by our method yield a lower discriminative accuracy compared to other baseline methods, indicating the proposed method can generate data with less privacy risk.

Discussion
The proposed model utilizes a mixed diffusion process to generate realistic synthetic EHR samples that protect patient privacy. This method could be useful in tackling data availability issues in the field of healthcare by reducing barrier to EHR access and supporting research in machine learning for health.

Conclusion
The proposed diffusion model-based method can reliably and efficiently generate synthetic EHR time series, which facilitates the downstream medical data analysis. Our numerical results show the superiority of the proposed method over all other existing methods.
Leveraging a global, federated, real-world data network to optimize investigator-initiated pediatric clinical trials: the TriNetX Pediatric Collaboratory Network
Authors: Wilson Jurran L , Betensky Marisol , Udassi Sharda , Ellison Pavithra R , Lilienthal Richard , Stahl Lindsay R , Palchuk Matvey B , Zia Ayesha , Town Deborah A , Kimble Wes , Goldenberg Neil A , Morizono Hiroki 
Published: September 2024

Abstract

Objective
Clinical research networks facilitate collaborative research, but data sharing remains a common barrier.

Materials and Methods
The TriNetX platform provides real-time access to electronic health record (EHR)-derived, anonymized data from 173 healthcare organizations (HCOs) and tools for queries and analysis. In 2022, 4 pediatric HCOs worked with TriNetX leadership to found the Pediatric Collaboratory Network (PCN), facilitated via a multi-institutional data-use agreement (DUA). The DUA enables collaborative study design and execution, with institutional review board-approved transfer of complete datasets for further analyses on a per-protocol basis.

Results and Discussion
Of the 41.2 million children with TriNetX records, the PCN represents nearly 10%. The PCN assisted several early-career investigators to bring study concepts from conception to an international scientific meeting presentation and journal submission.

Conclusion
The PCN facilitates EHR vendor-agnostic multicenter pediatric research on the global TriNetX platform. Continued growth of the PCN will advance knowledge in pediatric health.
Longitudinal changes in BMD in adults with cystic fibrosis
Authors: Jad Reem , Ma Xiayi , Stanojevic Sanja , Illango Abarnaa , Tullis Elizabeth , Gilmour Julie , Goss Christopher H , Strug Lisa J , Stephenson Anne L 
Published: September 2024

Abstract
Improved survival in people with cystic fibrosis (pwCF) presents new complexities of care, including CF-related bone disease, a common complication in older pwCF. The trajectory of bone loss with age in this population remains unclear. The objective of this study was to estimate the average rate of change in BMD in adults with CF. This retrospective study included adults with CF, aged 25-48 yr, followed between January 2000 and December 2021. Subjects with at least one DXA scan were included. Scans obtained posttransplantation, after the initiation of bisphosphonates or cystic fibrosis transmembrane conductance regulator modulator therapy was excluded. The primary outcome was BMD (g/cm2) at the LS and FN. A linear mixed-effects model with both random intercept and random slope terms was used to estimate the average annual change in BMD. A total of 1502 DXA scans in 500 adults (average age 28.4 y) were included. There was a statistically significant annual decline in BMD of −0.008 gm/cm2/yr (95% CI, −0.009 to −0.007) at the FN and −0.006 gm/cm2/yr (95% CI, −0.007 to −0.004) at the LS. Relative to BMD at age 25, there was a 18.8% decline at the FN by age 48 yr and a 11% decline at the LS. Pancreatic insufficient subjects had a faster rate of decline in BMD compared with pancreatic sufficient subjects. After adjusting for markers of disease severity, the annual rate of decline remained significant. Individuals with CF experience bone loss at an age when it is not anticipated, thereby entering early adulthood, where further bone loss is inevitable especially with the decrease in estrogen during menopause, with suboptimal BMD. As the CF population ages, it will become very important to consider interventions to maximize bone health.
Integrated viral and immune monitoring in a prospective COVID-19 cohort from India
Authors: Agrawal Sachee , Kasarpalkar Nandini , Ghosh Sayantani , Paradkar Gaurav , Daund Vaibhav , Bhowmick Shilpa , Chitalia Vidushi , Rao Priyanka , Sankpal Ashwini , Kalsurkar Varsha , Shah Karan , Khan Sameen , Patil Ashwini , Jagtap Dhanashree , Khandkar Omkar , Kaneria Mala , Mahale Smita D , Sachdeva Geetanjali , Bhor Vikrant M , Shastri Jayanthi , Patel Vainav 
Published: September 2024

Abstract
In this study, we report on longitudinal kinetics of cellular immune subsets following SARS-CoV-2 infection in a cohort of hospitalized individuals and evaluate the interplay of these profiles with infecting viral variants, humoral immunity including neutralizing responses, vaccination history, and clinical outcomes. A cohort of 121 SARS-CoV-2–infected individuals exhibiting varying disease states were prospectively evaluated for lymphopenic profiles, antiviral humoral responses and infecting viral variants for a period of up to 90 d spanning the period of February 2021 to January 2022 (second and third waves of infection). A total of 51 participants received at least 1 vaccine dose of indigenous vaccines (Covishield or Covaxin) prior to recruitment. When stratified in terms of mortality, B and natural killer cells, in contrast to the T cell compartment, did not recover from nadir levels in nonsurvivors who were largely unvaccinated. No discriminatory signature was identified for nonsurvivors in terms of anti-nucleocapsid or anti-S1-RBD IgG chemiluminescent immunoassay profiles including GenScript S1-RBD assays. Evaluation of sVCAM and sMAdCAM revealed opposing dynamics that correlated with disease severity and convalescence respectively. Viral variant analysis revealed Delta and Omicron variants to comprise the majority of the infections, which reflected national transmission kinetics during the period of recruitment. Our results demonstrate the importance of monitoring circulating biomarkers for convalescence as well as mortality in COVID-19 progression. Delta variants of SARS-CoV-2 clearly demonstrated increased pathogenicity and warrants sustained viral surveillance for re-emergence of these strains. Our findings with respect to vaccination advocate for continued vaccine development and administration of COVID-19 vaccines.