bluuebunny/crossref_metadata_2025_split huggingface dataset:
Coexistence of double seropositivity for MPO antibody and anti-GBM antibody in ANCA-associated vasculitis concurrent with multiple myeloma: A case report
Authors: Lee Hyeonjeong , Yang Jaeseok , Kwon Jinykung , Heo Mihwa , Kim Yaerim , Paek Jin Hyuk , Shin Hyeongchan , Choe Misun , Han Seungyeup , Jin Kyubok 
Published: July 2024

Rationale:Immune-mediated vasculitis with 2 or more autoantibodies, for example, anti-proteinase-3, combined with anti-myeloperoxidase (MPO) or anti-glomerular basement membrane (GBM) antibodies, is extremely unusual. Furthermore, the coexistence of autoimmune vasculitis and hematological malignancies is uncommon. Herein, we describe a case of double-seropositive anti-neutrophil cytoplasmic antibody (ANCA) vasculitis with multiple myeloma.Patient concerns:A 79-year-old Asian man presented with persistent leg edema and kidney dysfunction. His kidney function rapidly decreased, and serologic test results showed higher titers of the anti-MPO antibody (54.7 IU/mL) and anti-GBM antibodies (>200 IU/mL). Additionally, the clinical features showed the possibility of monoclonal gammopathy with anemia and hyperglobulinemia. We performed kidney and bone marrow biopsy. Serum protein electrophoresis and immunofixation revealed no significant differences, but the results of the bone marrow smear were compatible with those of myeloma with 15% plasmacytosis. However, kidney biopsy showed diffuse crescentic glomerulonephritis without deposition of the immune complex or kappa/lambda chain.Diagnoses and Interventions:Finally, the patient was diagnosed with double-seropositive ANCA-associated glomerulonephritis and multiple myeloma. Given the patient’s performance status, we initiated low-dose steroid pulse therapy, followed by conservative management.Outcomes:While the pulmonary lesions showed improvement, the kidney function did not regain its previous state, prompting the initiation of kidney replacement therapy by hemodialysis. There has been a decrease in the levels of anti-GBM and anti-MPO antibodies since the initial diagnosis.Lessons:This case elucidates the complex interplay between ANCA-associated glomerulonephritis and hematologic malignancy and emphasizes the need for a nuanced treatment strategy considering its multifaceted clinical presentation.
Pulmonary artery air embolism with consequent primary respiratory alkalosis and secondary metabolic alkalosis following ventilation therapy: A case report
Authors: Altorbak Nora A. , Daghistani Rayyan A. , Al-Omaish Hassan R. , Alsaab Thamer A. , Alhomaiani Shahad K. 
Published: July 2024

Background:
An air embolism is a rare complication that occurs after air enters blood vessels, causing almost no to mild symptoms in patients. Although uncommon, air embolism can be deadly. Critical care professionals should know the warning signs of air embolism and be prepared to carry out the necessary therapeutic interventions. To reduce morbidity and death, this clinical condition must be identified early. Here we are presenting a case of pulmonary artery air embolism as a consequence of contrast agent injection in a chest computed tomography study.

Case presentation:
A 70-year-old male patient were presented with pulmonary artery air embolism as a consequence of contrast agent injection in a chest computed tomography study. The patient experienced worsening respiratory symptoms that necessitated oxygen therapy, which resulted in respiratory alkalosis with secondary metabolic alkalosis. Following removal of the BiLevel positive airway pressure, the patient was switched to a 2-L nasal cannula, and his breathing rate increased to 34 breaths/min. After 8.5 hours of monitoring the patient’s vital signs, the nasal cannula was removed, and the patient began breathing room air on his own. His vital signs then stabilized and arterial blood gas parameters returned to normal. The patient’s condition improved, and he was discharged from the hospital after 9 days. Due to a high level of cytomegalovirus, the discharge prescriptions included valganciclovir film-coated tablets (900 mg, oral BID every 12 hours for 30 days) and apixaban (5 mg BID). The patient was then monitored at the outpatient clinic.

Conclusion:
Although rare, an air embolism can cause minor symptoms if it is small in volume or can be fatal if large. After contrast-enhanced radiological studies, physicians should be aware of any signs of respiratory distress or worsening of symptoms in their patients. Additionally, patients should be mindful of the potential complications associated with ventilation therapy.
Hormone receptor expression in low-grade adenosquamous carcinoma of the breast progressing to high-grade metaplastic carcinoma: A case report
Authors: Leng Lei , Hua Xin , Liu Wei , Jian Wu 
Published: July 2024

Rationale:Breast low-grade adenosquamous carcinoma is an uncommon cancer that has been neglected in genetic and pathophysiological research. Consequently, medical practitioners face challenges in the effective diagnosis and treatment of this condition.Patient concerns:We present the case of a 57-year-old Asian female patient who presented with bilateral breast masses on physical examination. Ultrasound and an MRI revealed a highly suspicious malignant mass in her right breast that was completely removed surgically.Diagnoses:After pathological analysis, the diagnosis was low-grade adenosquamous carcinoma with local high-grade transformation, and some of the tumor components were estrogen receptor positive.Interventions:The patient underwent appropriate postoperative chemotherapy and achieved a favorable outcome.Outcomes:During the follow-up period after surgical resection, the patient did not experience any local recurrence or distant metastasis.Lessons:Owing to the rare combination of estrogen receptor positivity and high-grade progression, this patient also required adjuvant chemotherapy. This enhances the essential foundation for diagnosing and treating this rare disease, and facilitates the implementation of treatment plans.
Genetic Heterogeneity, Craniofacial Surgical Burden, and Surgical Techniques in Patients With Saethre-Chotzen Syndrome
Authors: Romeo Dominic J. , Oral Kaan T. , Massenburg Benjamin B. , Ng Jinggang J. , Wu Meagan , Sussman Jonathan H. , Du Steven , Bartlett Scott P. , Swanson Jordan W. , Taylor Jesse A. 
Published: July 2024

Objective:
While genotype correlates with phenotype in patients with many forms of syndromic craniosynostosis, the relationship between molecular diagnosis and craniofacial surgical history in patients with Saethre-Chotzen syndrome (SCS) is more variable. This manuscript characterizes that relationship and evaluates operative trends in these patients over the past 3 decades.

Methods:
Demographic information, molecular diagnosis, and craniofacial surgical history in patients born with SCS between 1989 and 2023 were compared with appropriate statistics, including t tests and analysis of variance.

Results:
Thirty-five patients with SCS were included, and there was no difference in total craniofacial procedures among those with TWIST1 substitutions (2.1 ± 1.6), duplications (3.0 ± 4.2), insertions (3.5 ± 0.7), or deletions (2.4 ± 1.9; P = 0.97). Cranial expansion rates were also similar across all genetic diagnoses (P>0.05), and surgical incidence was similar across patients with unicoronal, bicoronal, and multisuture involvement (P > 0.05). Those with an initial fronto-orbital advancement had a lower incidence of secondary cranial vault procedures compared with those with an initial posterior vault distraction osteogenesis (29% versus 71%, P < 0.05), though this did not control for phenotypic severity. On average, total cranial vault surgical burden (1.35 ± 0.67 versus 1.75 ± 0.46) and cranial expansion surgical burden (1.40 ± 0.68 versus 1.88 ± 0.64) between the fronto-orbital advancement–first and posterior vault distraction osteogenesis–first cohorts were similar (P = 0.11, P = 0.17, respectively).

Conclusion:
While SCS is molecularly and phenotypically heterogeneous, genetic diagnosis does not appear associated with rates of craniofacial surgery. Additional prospective study of correlations between genotype, severity of craniofacial manifestations, and treatment algorithms is warranted; but, in the end, it may be that this highly variable form of syndromic craniosynostosis warrants tailored, expectant management.
Comparison of Endoscopic Ultrasound-guided Cyanoacrylate Injection and Transjugular Intrahepatic Portosystemic Shunt in the Prevention of Gastric Varices Rebleeding
Authors: Zeng Zhuang , Wang Zhihong , Jin Jing , Zhang Fumin , Zhang Qianqian , Mei Xuecan , Kong Derun 
Published: July 2024

Objective:
The purpose of this study was to investigate the efficacy and safety of endoscopic ultrasound (EUS)-guided injection of cyanoacrylate (CYA) and transjugular intrahepatic portal shunts (TIPSs) in the treatment of patients with cirrhosis with ruptured gastric varices.

Methods:
In this retrospective study, 105 patients with liver cirrhosis and gastric varicose veins who were admitted to the First Affiliated Hospital of Anhui Medical University between April 2018 and April 2023 without nonselective β-blockers treatment and no portal vein thrombosis were evaluated. The patients were divided into the transjugular intrahepatic portal shunt (TIPS) group (n = 60) and the EUS-CYA group (n = 45) for the purpose of evaluating postoperative rebleeding rates, complications, survival rates, and other factors.

Results:
During the follow-up, there was no significant difference in the rebleeding rates between the TIPS group and EUS-CYA group within 3 months (5% vs 2.2%; P = 0.825; 10% vs 20%, P = 0.147). However, the TIPS group had significantly lower rebleeding rates than the EUS-CYA group at 6 months (10% vs 33.3%; P = 0.030) and 1 year or longer (11.7% vs 42.2%; P < 0.01). In terms of hepatic encephalopathy, the incidence rate of the TIPS group was significantly higher than that of the EUS-CYA group (20% vs 2.2%; P = 0.006). In addition, there was no difference in the survival rates between the two groups (93.3% vs 97.8%; P = 0.552).

Conclusions:
TIPS is superior to EUS in preventing rebleeding in patients with ruptured varices of the fundus, but it has a higher incidence of hepatic encephalopathy, and there is no difference in long-term survival between the two groups.
Fragile X Syndrome Carrier Screening Using a Nanopore Sequencing Assay
Authors: Xia Zhongmin , Deng Qiuxiao , Hu Ping , Gao Chunliu , Jiang Yu , Zhou Yulin , Guo Qiwei 
Published: July 2024

BACKGROUNDFragile X syndrome (FXS) is the leading cause of monogenic autism spectrum disorder and inherited intellectual disabilities. Although the value of population-based FXS carrier screening has been acknowledged, appropriate screening methods are urgently required to establish and implement screening programs.METHODSWe developed a nanopore sequencing-based assay that includes data analysis software to identify FXS carriers. Reference and clinical samples were used to evaluate the performance of our nanopore sequencing assay. Triplet-primed PCR and PacBio long-read sequencing were used for comparisons.RESULTSNanopore sequencing identified reference carrier samples with a full range of premutation alleles in single-, 10-, and 100-plex assays, and identified AGG interruptions in an allele-specific manner. Nanopore sequencing revealed no size preference for amplicons containing different length CGG repeat regions. Finally, nanopore sequencing successfully identified three carriers among ten clinical samples for preliminary clinical validation. The observed variation in CGG repeat region size resulted from the base-calling process of nanopore sequencing.CONCLUSIONSOur nanopore sequencing assay is rapid, high-capacity, inexpensive, and easy to perform, thus providing a promising tool and paving the way for population-based FXS carrier screening.
Biological Systematic of the genusNotodiaptomusKiefer 1936 (Copepoda: Calanoida)
Authors: Geraldes-Primeiro Luis , Cavalcanti Mauro J. , Santos-Silva Edinaldo N. 
Published: July 2024

AbstractThe present effort is a systematic review of the most diverse diaptomid copepods from the South America, theNotodiaptomusKiefer 1936. We proposed to review and identify new morphological characteristics for 37 currently accepted species, assess nomenclatural status, and to examine their relatedness relations. The identification of 2700 morphological hypotheses for males and females are encoded in DEscription Language for TAxonomy (DELTA), used for a historical evaluation of the genus, and arrive at the first parsimony-based phylogeny forNotodiaptomus. We present synonymy of all species, status of type material, updated record of occurrences, taxonomic remarks, and dichotomous and interactive key for males and females. The rescue of the common and exclusive ancestor based on 80 synapomorphic characters recovers the monophyly of the organisms of the considered species, supports the discussion of the exclusive conditions and the historically indicated taxonomic relationships. Through this we wish to help establish an additional step on the consistency of the taxonomy of these species, contributing to answer important questions about the origin of some of the characteristics presented.
Weathering the storm for love: Mate searching behaviour of wild males of the Sydney funnel-web spider (Atrax robustus)
Authors: Creak Caitlin N. , Muirhead Hugo , Kasumovic Michael , Bonduriansky Russell , Buzatto Bruno A. 
Published: July 2024

AbstractThe risky business of mate-searching often leaves the actively searching sex facing threats and rapidly changing conditions. Yet, active mate-searching behaviour is rarely studied in invertebrates, and we have limited understanding of how mate-searching strategies have evolved to cope with risks posed by harsh weather. We investigated how mate-searching males move through their habitat and how their movement is affected by weather conditions in the Sydney funnel-web spider (Atrax robustus), one of the world’s most venomous spiders. As is common in mygalomorphs spiders, females are functionally sessile, and are thought to spend their whole lives in a single burrow, whereas males must permanently abandon their burrows to mate during the breeding season. Nineteen male spiders were fitted with micro-radio transmitters and tracked during their mating seasons in 2020 (n = 2), 2021 (n = 8) and 2022 (n = 9) in Lane Cove National Park, in Sydney, Australia. Males moved at night, typically in a zig-zag pattern, and were found in new locations on approximately 50% of daily resighting’s. Males often spent several days in a female’s burrow, and some female burrows were visited by multiple males. When outside a female’s burrow, males constructed and occupied temporary shelters (‘temporacula’). Males were most likely to move and/or moved furthest when there was no rain, and on warm nights after cool days. Our findings suggest that mate-searchingA. robustusmales prefer to search for females in less risky conditions, revealing novel risk-minimizing strategies, especially in response to rainfall and temperature.
Willingness and Perceived ability to pay for Uganda’s Proposed National Health Insurance Scheme among Informal Sector workers in Iganga and Mayuge districts, Uganda: A Contingent Valuation Method
Authors: Namuhani Noel , Kisakye Angela , Kiwanuka Suzanne N 
Published: July 2024

AbstractBackgroundAccess to health care remains a challenge, especially among the informal sector workers in most low-income countries, due to high out-of-pocket (OOP) expenditures, with Uganda spending over 28.0% out of pocket on health care. In response, Uganda has proposed a national health insurance scheme (NHI). However, the willingness and ability to pay for the proposed NHI scheme within the informal sector have not yet been explored in Uganda. This study assessed the willingness and perceived ability to pay for the proposed NHI scheme and its determinants among the informal sector workers in Iganga and Mayuge districts, Uganda.MethodologyA cross-sectional study was conducted in Iganga and Mayuge districts in April and May 2019. A contingent valuation method using the bidding game technique was used to elicit the willingness to pay (WTP). A total of 853 informal sector workers, including farmers, commercial motorists, fishermen, and traders, were randomly sampled. Seven focus group discussions (FGD) were also conducted. Logistic regression was done to identify the determinants of willingness to pay for the proposed NHI scheme. Qualitative data was analyzed thematically.ResultsThe majority 695/853, (81.5%) of the respondents were willing to pay for NHI; the median WTP was UGX 25,000 (USD 6.8) annually; and 633/853, (74.2%) of the respondents believed that they were able to pay for the health insurance. Willingness to Pay was significantly associated with being a fisher folk (AOR: 1.70 95%CI: 1.04-2.79, P = 0.035), being in the fourth wealth quintile (AOR: 2.98, 95% CI: 1.56–5.65), not hearing about health insurance (AOR: 0.50 95%CI: 0.23-0.86, P = 0.032), and not having saving group membership (AOR: 0.51, 95%CI: 0.34-0.76, P<0.001). Most of the FGD participants were willing to pay for the proposed scheme; however, some of the participants doubted their ability to pay for the scheme given their high poverty levels and their unstable income.ConclusionThe willingness to pay for health insurance in the informal sector is high. Therefore, it is viable for the government to extend NHI to the informal sector. However, awareness building and due consideration of high poverty levels in setting appropriate premiums should be a priority.
Factors behind poor cognitive outcome following a thalamic stroke
Authors: Vidal Julie P. C. , Danet Lola , Arribarat Germain , Pariente Jérémie , Péran Patrice , Albucher Jean-François , Barbeau Emmanuel J. 
Published: July 2024

AbstractObjectiveThalamic strokes produce a range of neurological, cognitive, and behavioral symptoms depending on the thalamic nuclei involved. While thalamic strokes are traditionally associated with severe cognitive deficits, recent studies suggest more modest impairments. This study aims to identify the factors that influence the severity of cognitive impairment following thalamic stroke.MethodsWe recruited 40 patients (median age 51) with chronic isolated thalamic stroke and 45 healthy subjects. All subjects underwent neuroimaging and neuropsychological testing. Cluster and principal component analyses were used to discriminate patients from healthy subjects based on cognitive performance. Disconnectome maps and cortical thickness were analyzed to understand the distant impact of thalamic strokes.ResultsTwo cognitive profiles emerged. Cluster 1 included mostly healthy subjects (n = 43) and patients with no or minor deficits (n = 20); Cluster 2 included patients (n = 19) and 2 healthy subjects with severe deficits of verbal memory, executive functions, and attention. Cluster 1 included all patients with right thalamic stroke. Cluster 2 included all patients with bilateral stroke or mammillothalamic tract disruption. Patients with left-sided stroke were equally divided between Cluster 1 and 2. Other significant differences included age, education, interthalamic adhesion disruption, lesion volume, and location. Disconnectome maps showed larger disruptions of the anterior thalamic projection in patients with left-sided stroke of Cluster 2.InterpretationContrary to common expectations, our findings indicate that many patients with thalamic stroke have relatively good cognitive outcomes. In contrast, we identified some of the factors behind poor outcomes that may help clinicians.
Second generation of LNP based mRNA vaccine leads to a T cell–inflamed tumor microenvironment favorable for improving PD-1/PD-L1 blocking therapy and long-term immunity in a cold tumor model
Authors: Fournier Carole , Mercey-Ressejac Marion , Derangère Valentin , Al Kadi Amal , Rageot David , Charrat Christine , Leroy Alexis , Escudé Marie , Escaich Séverine , Ghiringhelli François , Decaens Thomas , Navarro Fabrice P. , Jouvin-Marche Evelyne , Marche Patrice N. 
Published: July 2024

AbstractThe delivery of mRNA-based cancer vaccines has demonstrated significant promise in triggering antitumor immune responses. With the aim of using them in combination with other immunotherapies already used in the clinical appropriately, the modifications of the intratumoral immune microenvironment needs to be deeply characterized. We have shown that the second generation of lipid nanoparticles (LNPs), nanostructured lipid carriers (so-called Lipidots®), are able to vector protein antigens and nucleic acids. Here, we test Lipidots®for the delivery of mRNA encoding OVA antigen and eliciting a specific antitumor immune response. We demonstratein vitrothat our LNPs deliver mRNA into dendritic cells (DCs), when complexed with mRNA, activate DCs through the TLR4/8 and ROS signaling pathways and induce specific CD4+and CD8+T cell activation. Our vaccinal strategy exhibits significant antitumor efficacy both in the context of tumor prevention and as a therapeutic vaccine in B16OVA and E.G7-OVA cold tumors. The LNP-Ova mRNA vaccine induces a profound intratumoral remodeling of the innate and adaptive immunity associated with an increase in the gene expression of chemokines (Cxcl10, Cxcl11, Cxcl9) involved in CD8+T cell attraction. Additionally, the vaccine induces the establishment of an escape mechanism mediated by PD-1/PDL-1 axis, making it an adjuvant therapy for optimized responses to the blocking of this signaling pathway. Finally, the combination of vaccine and anti-PD-1 therapy achieves a much higher rate of complete responses and memory immune responses compared to monotherapies. Our work demonstrates the capability of Lipidots®as an effective platform for the development of preventive and therapeutic vaccines against cancer based on mRNA delivery and that combination with other immunotherapies such as immune checkpoint blockers could counter tumor resistance and promote long-term antitumor immunity.
Changes in maternal blood and placental lipidomic profile in obesity and gestational diabetes: Evidence for sexual dimorphism
Authors: Kadam Leena , Veličković Marija , Stratton Kelly , Nicora Carrie D. , Kyle Jennifer E. , Wang Eric , Monroe Matthew E. , Bramer Lisa M. , Myatt Leslie , Burnum-Johnson Kristin E. 
Published: July 2024

ABSTRACTIntroductionObesity and gestational diabetes (GDM) are associated with adverse pregnancy outcomes and program the offspring for cardiometabolic disease in a sexually dimorphic manner. The placenta transfers lipids to the fetus and uses these substrates to support its own metabolism impacting the amount of substrate available to the growing fetus.MethodsWe collected maternal plasma and placental villous tissue following elective cesarean section at term from women who were lean (pre-pregnancy BMI 18.5-24.9), obese (BMI>30) and type A2 GDM (matched to obese BMI) with male or female fetus (n=4 each group). Lipids were extracted and fatty acid composition of different lipid classes were analyzed by LC-MS/MS analysis. Significant changes in GDM vs obese, GDM vs lean, and obese vs lean were determined using t-test with a Tukey correction set at p<0.05.ResultsIn placental samples 436 lipids were identified, among which 85 showed significant changes. Of note only in male placentas significant decreases in C22:6 - docosahexaenoic acid (DHA) in phosphatidylcholine (PC) and triglyceride lipid species were seen when comparing tissue from GDM women to lean. In maternal plasma we observed no effect of obesity. GDM or fetal sex.ConclusionThis is the first study assessing fatty acid composition of lipids in matched maternal plasma and placental tissue from lean, obese, and GDM women stratified by fetal sex. It highlights how GDM affects distribution of fatty acids in lipid classes changes in a sexually dimorphic manner in the placenta.