bluuebunny/crossref_metadata_2025_split huggingface dataset:
Bone metastatic carcinoma with EGFR amplification and mutation: A case report and literature review
Authors: Du Hong-Juan , Chen Fang-Fang , Liu Yu , Zhou Yu 
Published: January 2023

Rationale:
Mutations in the epidermal growth factor receptor (EGFR) gene are highly prevalent in non-small cell lung cancer, while rare in other cancers. Primarily it’s hardly present in bone metastases from cancer of unknown primary (BMCUP). Currently, no specific treatment options for bone metastases from unknown primary cancers exist.

Patient concerns:
The right shoulder and back pain of a 72-years-old man had been persistent for 2 weeks and had developed worse on 1 particular day. The right upper arm was compromised, which also hindered the arm’s ability to raise and flex, and nighttime sleep was impacted. After applying the analgesic patch externally, the symptoms did not improve. No coughing or sputum production, chest tightness, shortness of breath, acid reflux, belching, abdominal pain, distension, diarrhea, backache, hematuria, black or bloody feces, or other discomforts appeared over the course of the illness.

Diagnoses:
The patient had a particular type of bone metastases from primary cancers with genetic test results indicating EGFR amplification and mutation.

Interventions:
A third-generation tyrosine kinase inhibitors drug, oral Osimertinib 80 mg once a day with bisphosphonates anti-bone destruction treatment was performed on schedule.

Outcomes:
Following treatment, the patient’s tumor-related symptoms were significantly improved by controlling the disease for up to 11 months and providing great pain relief.

Lesson:
EGFR-based genetic testing has emerged as a key measure for targeted therapy in non-small cell lung cancer. However, there are fewer relevant studies for other tumor types like BMCUP. Combined with literature reviews and our report, we provide evidence that targeting EGFR mutations according to the “basket theory” for the treatment of BMCUP is effective.
Antiepileptic drug-induced hypersensitivity syndrome with liver function abnormality and fever as the first manifestation: A case report
Authors: Liu Mei , Ci Xin-Yu , Huang Han , Zhang Mei-Juan 
Published: January 2023

Rationale:
Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome is a severe cutaneous drug reaction characterized by fever, lymphadenopathy, hematologic abnormalities, single or multiple organ involvement, and viral reactivation.[1] The most frequently reported offending drugs are aromatic antiepileptic agents, antibiotics, and allopurinol.[2] Though a relatively rare syndrome, DRESS can lead to severe multi-organ system dysfunction, and in some cases even death. DRESS is one of the severe drug eruptions in dermatological diseases, but it is difficult to diagnose for internist. In this paper, a typical drug hypersensitivity syndrome with abnormal liver function and fever as the first manifestations was reported. The objective of this study was to improve the understanding of rare drug hypersensitivity syndrome in digestion and other fields, and to avoid missed diagnosis and misdiagnosis.

Patient Concerns:
A 33-year-old Chinese female was initially diagnosed with acute hepatic insufficiency. Combined with the suspicious drug history, she developed DRESS with fever, target erythema, left lymph node enlargement, hematological abnormalities, and abnormal liver function.

Diagnoses:
Combined with the above characteristics, liver toxicity is the main manifestation, accompanied by fever, mainly moderate to high fever (above 38 °C) , sporadic rash, other organs (kidney, immune system) damage, and a marked increase in eosinophil granulocytic. Therefore the patient was diagnosed with definite case of DRESS syndrome based on clinical and laboratory findings.

Interventions:
Hormones (methylprednisolone 60 mg/day for 12 days and 80 mg/day for 12 days) and immunoglobulins (intravenous immunoglobulin 10 g/day for 5 days and 20 g/day for 7 days) were given.

Outcomes:
The patient was discharged from the hospital after recovery. One month after discharge, she was re-admitted to the hospital because of elevated blood sugar and was diagnosed as diabetes.

Lessons:
DRESS syndrome is a rare but life-threatening hypersensitivity reaction. The mortality will be very high if it’s not diagnosed and treated timely. This paper presents a successful case of methylprednisolone plus intravenous immunoglobulin therapy, which provides a stronger evidence for the future diagnosis and treatment of the disease.
Diffuse large B-cell lymphoma involving multiple immunoprivileged sites presenting as painful ophthalmoplegia: A case report
Authors: Zhang Yimei , Jianfeng Zhang 
Published: January 2023

Rationale:
Primary diffuse large B-cell lymphoma (DLBCL) is the most common type of non-Hodgkin’s lymphoma. It is very rare to find lymphoma in immune -privileged sitesat the same time. We report a case of rapidly progressing DLBCL involving multiple sites in the central nervous system, testis, and orbit.

Patient concerns:
A 57-years-old man developed diplopia 1 month ago with severe right periorbital pain and right eyelid ptosis. He developed dysphagia 1 week ago and hoarseness 5 days ago.

Diagnoses:
The pathology of the left testicle confirmed DLBCL. Immunohistochemical analysis showed that CD20, CD79α, multiple myeloma oncogene-1, BCL2, BCL6 atypical lymphocyte aggregation was positive. Positron emission tomography reveals DLBCL involving the central nervous system, testes, eyes, and other parts of the body.

Interventions:
We administered glucocorticoids for pre-chemotherapy treatment, but the patient’s condition progressed quickly and was generally poor. The patient’s family decided to discharge automatically.

Outcomes:
Two weeks after he was discharged, we called for a follow-up visit and were told the patient had died.

Lessons:
Atypical clinical symptoms of the disease often confuse the doctor’s diagnosis. Adequate examination should be performed before glucocorticoid treatment in order to avoid obscuring the true condition. In some rare diseases, early use of PET-CT may lead to early detection.
Global research trends in the COVID-19 and digestive disease: A review of visualization and bibliometric study
Authors: Gan Peiling , Huang Shu , Pan Xiao , Xia Huifang , Zeng Xinyi , Ren Wensen , Shi Lei , Lü Muhan , Zhou Xian , Tang Xiaowei 
Published: January 2023

Background:
The rapid spread of coronavirus disease 2019 (COVID-19) has attracted worldwide attention. There were also reported gastrointestinal symptoms in patients with COVID-19. This work aims to analyze the global research trends in COVID-19 and digestive disease.

Methods:
The related papers on COVID-19 and digestive disease were identified with Pubmed and web of science core collection on September 3, 2021. Bibliometric visualization was conducted through VOSviewer and CiteSpace.

Results:
The analytic research was based on original articles and reviews. There were 997 articles found, with citations ranging from 0 to 878. These articles were distributed among 86 countries and 355 journals. The USA mainly contributed (288 articles), where 3 of the top 10 institutions were located. Followed by China (215 articles) and Italy (160 articles). The highest level of scientific collaboration has been formed between the USA to China. The World Journal of Gastroenterology (39 papers) published the most significant number of articles. Concerning the research topic, the colon/small bowel had the largest number of articles, followed by the liver and pancreaticobiliary. “Liver injury,” “inflammatory bowel disease,” “management,” and “endoscopy” were the hotspot keywords. The largest cluster of liver transplantation had offered hints regarding research frontiers.

Conclusion:
The analytic results showed that the liver, especially liver transplantation, and inflammatory bowel disease were the 2 most influential research topics in COVID-19 and digestive disease.
Treatment of arteriovenous fistula with aneurysm using the forearm branch of the cephalic vein as a candidate vessel: A case report
Authors: Wang Bo , Hu Ying 
Published: January 2023

Background:
Arteriovenous fistula (AVF) is the preferred vascular access for hemodialysis patients due to its better patency rates and fewer complications than other access types. However, some complications related to AVF could not be ignored, including swollen hands and an aneurysm. Although a patient could not continue hemodialysis, it might threaten the patient’s life if the rupture of the aneurysm is not immediately treated by the surgeon. A report of using the cephalic vein branch to treat this complication is uncommon.

Case presentation:
Herein, we present a case of a 42-year-old man in whom an AVF with an aneurysm was successfully treated using the excess cephalic vein branch. This method is a simple and effective intervention for managing aneurysm-associated complications. Additionally, this approach helps maintain the benefits of autogenous access while conserving future dialysis sites.

Conclusion:
The surgery was effective and safe for this kind of complication with swollen hands and aneurysm. Using the excess cephalic vein branch could reconstruct the AVF.
Effectiveness and safety of Inclisiran in hyperlipidemia treatment: An overview of systematic reviews
Authors: Li Jiayi , Lei Xiangguo , Li Zihao , Yang Xi 
Published: January 2023

Background:
This paper aimed to comprehensively evaluate the effectiveness and safety of Inclisiran in treating hyperlipidemia through an overview of systematic reviews (SRs).

Methods:
The Cochrane Library, EMBASE, PubMed, CNKI, WANGFANG database, VIP database, ClinicalTrials.gov, and ICRT were searched electronically to collect SRs and meta-analysis of Inclisiran in hyperlipidemia treatment from the establishment of the database till May 2022. Two researchers independently screened the relevant literature, then the assessment of multiple systematic reviews tool was made into assess the methodological quality of the included studies. Data extracted were used to perform the study through RevMan5.3 software. The grading of recommendations assessment, development, and evaluation tool was used to grade the quality of the evidence of the outcomes included in the SRs. Prospero ID: CRD 42022326845.

Results:
A total of 10 relevant SRs were included, involving 7 randomized controlled trials. The assessment results of the assessment of multiple systematic reviews tool suggested that the quality of the SRs included needed to be improved. The reduced level of low-density lipoprotein cholesterol of the experimental group was lower than the control group, and the difference in the amount of effectiveness was statistically significant (MD = –50.13, 95%CI: –56.2 to –44.06, P < .00001). The grading of recommendations assessment, development, and evaluation results showed that out of 27 outcomes, 8 were high-quality, 3 were of medium quality, 6 were of low quality, and 10 were of the most inferior quality.

Conclusion:
300mg Inclisiran with 2 injections a year has the best therapeutic effect, which can significantly reduce low-density lipoprotein cholesterol and total cholesterol, and increase high-density lipoprotein cholesterol levels in patients with hyperlipidemia. Inclisiran has a favorable safety profile, with no significant difference in the incidence of adverse reactions compared to a placebo. Most of the adverse effects were associated with the reaction on the injection site.
Reexamining the Impact of Insurance Type on Kidney Transplant Waitlist Status and Posttransplantation Outcomes in the United States After Implementation of the Affordable Care Act
Authors: Morenz Anna , Perkins James , Dick André , Young Bessie , Ng Yue-Harn 
Published: January 2023

Background.
Insurance type, a marker of socioeconomic status, has been associated with poor access to kidney transplant (KT) and worse KT outcomes before the implementation of the Affordable Care Act (ACA) and the revised Kidney Allocation System (KAS). In this study, we assessed if insurance type remained a risk marker for worse waitlist and transplant outcomes after ACA and KAS.

Methods.
Using Scientific Registry of Transplant Recipients data, we assessed insurance type of waitlisted candidates pre- (2008–2014) versus post- (2014–2021) KAS/ACA using chi-square tests. Next, we performed a competing risk analysis to study the effect of private versus public (Medicare, Medicaid, or government-sponsored) insurance on waitlist outcomes and a Cox survival analysis to study posttransplant outcomes while controlling for candidate, and recipient and donor variables, respectively.

Results.
The proportion of overall KT candidates insured by Medicaid increased from pre-KAS/ACA to post-KAS/ACA (from 12 667 [7.3%] to 21 768 [8.8%], P < 0.0001). However, KT candidates with public insurance were more likely to have died or become too sick for KT (subdistribution hazard ratio [SHR] = 1.33, confidence interval [CI], 1.30-1.36) or to receive a deceased donor KT (SHR = 1.57, CI, 1.54-1.60) but less likely to receive a living donor KT (SHR = 0.87, CI, 0.85-0.89). Post-KT, KT recipients with public insurance had greater risk of mortality (relative risks = 1.22, CI, 1.15-1.31) and allograft failure (relative risks = 1.10, CI, 1.03-1.29).

Conclusions.
Although the implementation of ACA marginally increased the proportion of waitlisted candidates with Medicaid, publicly insured KT candidates remained at greater risk of being removed from the waitlist, had lower probability of living donor kidney transplantation, and had greater probability of dying post-KT and allograft failure. Concerted efforts to address factors contributing to these inequities in future studies are needed, with the goal of achieving equity in KT for all.
Draft genomes, phylogenomic reconstruction and comparative genome analysis of three Xenorhabdus strains isolated from soil dwelling nematodes in Kenya
Authors: Awori Ryan Musumba , Waturu Charles N. , Pidot Sacha J. , Amugune Nelson O. , Bode Helge B. 
Published: January 2023

As a proven source of potent and selective antimicrobials, Xenorhabdus bacteria are important to an age plagued with difficult-to-treat microbial infections. Yet, only twenty-seven species have been described to date. In this study, a new Xenorhabdus species was discovered through genomic studies on three isolates from Kenyan soils. Soils in Western Kenya were surveyed for steinernematids and Steinernema isolates VH1 and BG5 were recovered from red volcanic loam soils from cultivated land in Vihiga and clay soils from riverine land in Bungoma respectively. From the two nematode isolates, Xenorhabdus sp. BG5 and Xenorhabdus sp. VH1 were isolated. The genomes of these two, plus that of X. griffiniae XN45 —this was previously isolated from Steinernema sp. scarpo that also originated from Kenyan soils— were sequenced and assembled. Nascent genome assemblies of the three isolates were of good quality with over 70% of their proteome having known functions. These three isolates formed the X. griffiniae clade in a phylogenomic reconstruction of the genus. Their species were delineated using three overall genome relatedness indices: an unnamed species of the genus, Xenorhabdus sp. BG5, X. griffiniae VH1, and X. griffiniae XN45. A pangenome analysis of this clade revealed that over 70% of species-specific genes encoded unknown functions. Transposases were linked to genomic islands in Xenorhabdus sp. BG5. Thus, overall genome-related indices sufficiently delineated species of two new Xenorhabdus isolates from Kenya, both of which were closely related to X. griffiniae. The functions encoded by most species specific genes in the X. griffiniae clade remain unknown.
Efficacy of federated learning on genomic data: a study on the UK Biobank and the 1000 Genomes Project
Authors: Kolobkov Dmitry , Sharma Satyarth Mishra , Medvedev Aleksandr , Lebedev Mikhail , Kosaretskiy Egor , Vakhitov Ruslan 
Published: January 2023

AbstractCombining training data from multiple sources increases sample size and reduces confounding, leading to more accurate and less biased machine learning models. In healthcare, however, direct pooling of data is often not allowed by data custodians who are accountable for minimizing the exposure of sensitive information. Federated learning offers a promising solution to this problem by training a model in a decentralized manner thus reducing the risks of data leak-age. Although there is increasing utilization of federated learning on clinical data, its efficacy on individual-level genomic data has not been studied. This study lays the groundwork for the adoption of federated learning for genomic data by investigating its applicability in two scenarios: phenotype prediction on the UK Biobank data and ancestry prediction on the 1000 Genomes Project data. We show that federated models trained on data split into independent nodes achieve performance close to centralized models, even in the presence of significant inter-node heterogeneity. Additionally, we investigate how federated model accuracy is affected by communication frequency and suggest approaches to reduce computational complexity or communication costs.
Estimations of SARS-CoV-2 endemic characteristics
Authors: Nesteruk Igor 
Published: January 2023

ABSTRACTThe fourth year of the COVID-19 pandemic without decreasing trends in the global numbers of new daily cases, high numbers of circulating SARS-CoV-2 variants and re-infections together with pessimistic predictions for the Omicron wave duration force studies about the endemic stage of the disease. The global trends were illustrated with the use the accumulated numbers of laboratory-confirmed COVID-19 cases and deaths, the percentages of fully vaccinated people and boosters and the results of calculation of the effective reproduction number provided by Johns Hopkins University. The modified SIR model showed the presence of unsteady equilibrium. The global numbers of new daily cases will range between 300 thousand and one million, daily deaths – between one and 3.3 thousand.
HPV and HBV vaccine hesitancy, intention, and uptake in the era of social media and COVID-19: A review
Authors: Vraga Emily K , Brady Sonya S , Gansen Chloe , Khan Euna M , Bennis Sarah L. , Nones Madalyn , Tang Rongwei , Srivastava Jaideep , Kulasingam Shalini 
Published: January 2023

AbstractPrior to the COVID-19 pandemic, the World Health Organization named vaccine hesitancy as one of the top 10 threats to global health. The impact of hesitancy on uptake of human papillomavirus (HPV) vaccines was of particular concern, given the markedly lower uptake compared to other adolescent vaccines in some countries, notably the United States. With the recent approval of COVID-19 vaccines coupled with the widespread use of social media, concerns regarding vaccine hesitancy have grown. However, the association between COVID-related vaccine hesitancy and cancer vaccines such as HPV is unclear. To examine the potential association, we performed two reviews using Ovid Medline and APA PsychInfo. Our aim was to answer two questions: (1) Is COVID-19 vaccine hesitancy, intention, or uptake associated with HPV or HBV vaccine hesitancy, intention, or uptake? and (2) Is exposure to COVID-19 vaccine misinformation on social media associated with HPV or HBV vaccine hesitancy, intention, or uptake? Our review identified few published empirical studies that addressed these questions. Our results highlight the urgent need for studies that can shift through the vast quantities of social media data to better understand the link between COVID-19 vaccine misinformation and disinformation and its impact on uptake of cancer vaccines.
Electrophysiological signatures of visual recognition memory across all layers of mouse V1
Authors: Hayden Dustin J. , Finnie Peter S.B. , Thomazeau Aurore , Li Alyssa Y. , Cooke Samuel F. , Bear Mark F. 
Published: January 2023

AbstractIn mouse primary visual cortex (V1), familiar stimuli evoke significantly altered responses when compared to novel stimuli. This stimulus-selective response plasticity (SRP) was described originally as an increase in the magnitude of visual evoked potentials (VEPs) elicited in layer (L) 4 by familiar phase-reversing grating stimuli. SRP is dependent on NMDA receptors (NMDAR) and has been hypothesized to reflect potentiation of thalamocortical synapses in L4. However, recent evidence indicates that the synaptic modifications that manifest as SRP do not occur on L4 principal cells. To shed light on where and how SRP is induced and expressed, the present study had three related aims: (1) to confirm that NMDAR are required specifically in glutamatergic principal neurons of V1, (2) to investigate the consequences of deleting NMDAR specifically in L6, and (3) to use translaminar electrophysiological recordings to characterize SRP expression in different layers of V1. We find that knockout of NMDAR in L6 principal neurons disrupts SRP. Current-source density analysis of the VEP depth profile shows augmentation of short latency current sinks in layers 3, 4 and 6 in response to phase reversals of familiar stimuli. Multiunit recordings demonstrate that increased peak firing occurs to in response to phase reversals of familiar stimuli across all layers, but that activity between phase reversals is suppressed. Together, these data reveal important aspects of the underlying phenomenology of SRP and generate new hypotheses for the expression of experience-dependent plasticity in V1.Significance StatementRepeated exposure to stimuli that portend neither reward nor punishment leads to behavioral habituation, enabling organisms to dedicate attention to novel or otherwise significant features of the environment. The neural basis of this process, which is so often dysregulated in neurological and psychiatric disorders, remains poorly understood. Learning and memory of stimulus familiarity can be studied in mouse visual cortex by measuring electrophysiological responses to simple phase-reversing grating stimuli. The current study advances knowledge of this process by documenting changes in visual evoked potentials, neuronal spiking activity, and oscillations in the local field potentials across all layers of mouse visual cortex. In addition, we identify a key contribution of a specific population of neurons in layer 6 of visual cortex.
Tissue-specific collagen hydroxylation at GEP/GDP triplets mediated by P4HA2
Authors: Wilhelm Dafné , Wurtz Alison , Abouhelfara Hanane , Sanchez Guillaume , Bui Catherine , Vincourt Jean-Baptiste 
Published: January 2023

ABSTRACTCollagen, the most abundant organic compound of vertebrate organisms, is a supramolecular, protein-made polymer. Details of its post-translational maturation largely determine the mechanical properties of connective tissues. Its assembly requires massive, heterogeneous prolyl-4-hydroxylation (P4H), catalyzed by Prolyl-4-hydroxylases (P4HA1-3), providing thermostability to its elemental, triple helical building block. So far, there was no evidence of tissue-specific regulation of P4H, nor of a differential substrate repertoire of P4HAs. Here, the post-translational modifications of collagen extracted from bone, skin, and tendon were compared, revealing lower hydroxylation of most GEP/GDP triplets, together with fewer other residue positions along collagen α chains, in the tendon. This regulation is mostly conserved in two distant homeotherm species, mouse and chicken. The comparison of detailed P4H patterns in both species suggests a dual mechanism of specificity.P4ha2expression is low in tendon and its genetic invalidation in the ATDC5 cellular model of collagen assembly specifically mimics the tendon-related P4H profile. Therefore, P4HA2 has a better ability than other P4HAs to hydroxylate the corresponding residue positions. Its local expression participates in determining the P4H profile, a novel aspect of the tissue specificities of collagen assembly.Data availabilityProteomics data are availableviaProteomeXchange with the identifier PXD039221. Reviewer account details:login: MSV000091002_reviewerpassword: P4HA2tendon.