bluuebunny/crossref_metadata_2025_split huggingface dataset:
Case Report: A de novo NLRP3 variant resulting in autoinflammatory disease in a Chinese newborn
Authors: Xie Mingyu , Wan Jingjing , Zheng Xin , Zou Xian , Chen Wanting , Zhang Kanglin , Yuan Huiting , Zhang Zhenhong , Zeng Haisheng 
Published: October 2023

BackgroundCryopyrin-associated periodic syndromes (CAPS) have been considered autoinflammatory diseases resulting from NLRP3 gene mutations. In recent years, these conditions have been redefined as NLRP3-associated autoinflammatory diseases (NLRP3-AID). Our previous study highlighted a case of a Chinese individual carrying the de novo NLRP3 mutation.ResultsA female child carrying a de novo variant (c.1718T&gt;G, p. L573W) in the NLRP3 gene was presented in this work. The patient manifested various symptoms, including recurrent fever, a rash resembling urticaria, arthritis, physical growth retardation, a notable prominence of the forehead, and a flat nose bridge. Additionally, inflammatory markers, like WBC count, PLT count, CRP, ESR, and IL-6 showed elevated levels. Additionally, we observed interstitial pulmonary disease in the patient, which is not frequently mentioned in previous studies. Notably, the proband did not present with any ocular, auditory, or neurological symptoms. After 12 weeks of subcutaneous canakinumab injection, there was a clear improvement in the patient’s clinical manifestations and inflammatory markers.ConclusionOur study contributes to broadening the clinical spectrum of established pathogenic variants of NLRP3 gene, which are related to NLRP3-AID.
Systemic inflammation early after kidney transplantation is associated with long-term graft loss: a cohort study
Authors: Heldal Torbjørn F. , Åsberg Anders , Ueland Thor , Reisæter Anna V. , Pischke Søren E. , Mollnes Tom E. , Aukrust Pål , Reinholt Finn , Hartmann Anders , Heldal Kristian , Jenssen Trond G. 
Published: October 2023

BackgroundEarly graft loss following kidney transplantation is mainly a result of acute rejection or surgical complications, while long-term kidney allograft loss is more complex. We examined the association between systemic inflammation early after kidney transplantation and long-term graft loss, as well as correlations between systemic inflammation scores and inflammatory findings in biopsies 6 weeks and 1 year after kidney transplantation.MethodsWe measured 21 inflammatory biomarkers 10 weeks after transplantation in 699 patients who were transplanted between 2009 and 2012 at Oslo University Hospital, Rikshospitalet, Norway. Low-grade inflammation was assessed with predefined inflammation scores based on specific biomarkers: one overall inflammation score and five pathway-specific scores. Surveillance or indication biopsies were performed in all patients 6 weeks after transplantation. The scores were tested in Cox regression models.ResultsMedian follow-up time was 9.1 years (interquartile range 7.6-10.7 years). During the study period, there were 84 (12.2%) death-censored graft losses. The overall inflammation score was associated with long-term kidney graft loss both when assessed as a continuous variable (hazard ratio 1.03, 95% CI 1.01-1.06, P = 0.005) and as a categorical variable (4th quartile: hazard ratio 3.19, 95% CI 1.43-7.10, P = 0.005). In the pathway-specific analyses, fibrogenesis activity and vascular inflammation stood out. The vascular inflammation score was associated with inflammation in biopsies 6 weeks and 1 year after transplantation, while the fibrinogenesis score was associated with interstitial fibrosis and tubular atrophy.ConclusionIn conclusion, a systemic inflammatory environment early after kidney transplantation was associated with biopsy-confirmed kidney graft pathology and long-term kidney graft loss. The systemic vascular inflammation score correlated with inflammatory findings in biopsies 6 weeks and 1 year after transplantation.
Safety of JAK and IL-6 inhibitors in patients with rheumatoid arthritis: a multicenter cohort study
Authors: Yoshida Shuhei , Miyata Masayuki , Suzuki Eiji , Kanno Takashi , Sumichika Yuya , Saito Kenji , Matsumoto Haruki , Temmoku Jumpei , Fujita Yuya , Matsuoka Naoki , Asano Tomoyuki , Sato Shuzo , Migita Kiyoshi 
Published: October 2023

BackgroundThe ORAL Surveillance trial showed a potentially higher incidence of malignancy and major adverse cardiovascular events (MACEs) associated with tofacitinib than those associated with tumor necrosis factor (TNF) inhibitors (TNFis). However, few studies have compared the safety of non-TNFis or other Janus kinase (JAK) inhibitors (JAKis). This study was aimed at comparing the incidence rates (IRs) of malignancies and MACEs in patients with rheumatoid arthritis (RA) treated using interleukin-6 (IL-6) inhibitors (IL-6is) or JAKis.MethodsWe retrospectively analyzed 427 patients with RA who were treated using an IL-6i (n = 273) or a JAKi (n = 154). We determined the IRs of malignancy and MACEs, and the standardized incidence ratio (SIR) of malignancies and investigated factors related to malignancy and MACEs. After adjusting the clinical characteristic imbalance by propensity score matching (PSM), we compared the IRs of adverse events between the JAKi and IL-6i groups.ResultsAfter PSM, the observational period was determined to be 605.27 patient-years (PY), and the median observational period was determined to be 2.28 years. We identified seven cases of malignancy (IR: 2.94 per 100 PY) in the JAKi-treated group and five cases (IR: 1.36 per 100 PY) in the IL-6i-treated group after PSM. The IR of MACEs was 2.56 and 0.83 (per 100 PY) in the JAKi- and IL-6i-treated groups. The IRRs of JAKi-treated patients versus IL-6i-treated patients were 2.13 (95% confidence interval (CI): 0.67–7.42) for malignancy and 3.03 (95% CI: 0.77–15.21) for MACE. There were no significant differences in IRR for malignancy and MACE between both groups after PSM. Univariate and multivariable Cox regression analyses revealed that older age and JAKi use were independent risk factors for malignancy, while older age, hypertension, and JAKi use were independent risk factors for MACEs. The overall malignancy SIR was significantly higher in the JAKi-treated group compared to the general population (2.10/100 PY, 95% CI: 1.23–2.97).ConclusionThe IRs of malignancy and MACE in patients with RA after PSM were comparable between IL-6i-treated and JAKi-treated patients. However, the SIR of malignancy in JAKi treatment was significantly higher than in the general population; therefore, further safety studies comparing JAKi to non-TNFi biologic disease-modifying antirheumatic drugs (bDMARDs) are needed.
Sol-gel synthesis of magnesium aluminate and synergistic degradation of Cr(VI) ion by adsorption and photocatalysis
Authors: Liu Miao , Wang Yi , Wu Yingjun , Liu Chunyang , Liu Xin 
Published: October 2023

Introduction: Magnesium aluminate (MgAl2O4) is a new adsorbent, which can be used to adsorb dyes and drugs, but it has not been used to adsorb Cr(VI) ions.Methods: A conventional polyacrylamide gel route with the different chelating agents including ethylenediamine tetraacetic acid (EDTA), oxalic acid and salicylic acid have been applied to synthesis the MgAl2O4 nanoparticles with the high adsorption capacity and photocatalytic reduction capacity for the adsorption and reduction of Cr(VI). The phase compositions, microstructure characteristics, optical properties, adsorption capacities and photocatalytic reduction capacities of MgAl2O4 nanoparticles can be effectively regulated by changing the type of chelating agent.Results and discussion: The pure phase MgAl2O4 nanoparticles were obtained by using EDTA and oxalic acid as chelating agents, but a small amount of MgO impurity appeared in the MgAl2O4 nanoparticles obtained by salicylic acid as chelating agents, which inhibited the adsorption and photocatalytic reduction ability of MgAl2O4 nanoparticles. The optimal MgAl2O4 content, Cr(VI) initial concentration and pH value were 0.75 mg/L, 100 mg/L and 5, respectively. The photocatalytic reduction capacity of MgAl2O4 nanoparticles obtained by oxalic acid as chelating agents was 3.56 times that of MgAl2O4 nanoparticles obtained by salicylic acid as chelating agents. The high adsorption capacity of MgAl2O4 nanoparticles is mainly due to electrostatic adsorption, while the high photocatalytic reduction capacity is mainly due to the high reduction capacity of active free radicals generated by the conduction electrons and valence band holes of MgAl2O4 nanoparticles.
High-Flow Nasal Cannula oxygen therapy in COVID-19: retrospective analysis of clinical outcomes – single center experience
Authors: Obradović Dušanka , Milovančev Aleksandra , Plećaš Đurić Aleksandra , Sovilj-Gmizić Stanislava , Đurović Vladimir , Šović Jovica , Đurđević Miloš , Tubić Stevan , Bulajić Jelena , Mišić Milena , Jojić Jovana , Pušara Miroslava , Lazić Ivana , Đurković Mladen , Bek Pupovac Renata , Vulić Aleksandra , Jozing Marija 
Published: October 2023

BackgroundHigh-Flow Nasal Cannula (HFNC) oxygen therapy emerged as the therapy of choice in COVID-19-related pneumonia and moderate to severe acute hypoxemic respiratory failure (AHRF). HFNC oxygen therapy in COVID-19 has been recommended based its use to treat AHRF of other etiologies, and studies on assessing outcomes in COVID-19 patients are highly needed. This study aimed to examine outcomes in COVID-19 patients with pneumonia and severe AHRF treated with HFNC.Materials and methodsThe study included 235 COVID-19 patients with pneumonia treated with HFNC. Data extracted from medical records included demographic characteristics, comorbidities, laboratory parameters, clinical and oxygenation status, clinical complications, as well as the length of hospital stay. Patients were segregated into two groups based on their oxygen therapy needs: HDU group, those who exclusively required HFNC and ICU group, those whose oxygen therapy needed to be escalated at some point of hospital stay. The primary outcome was the need for respiratory support escalation (noninvasive or invasive mechanical ventilation) and the secondary outcome was the in-hospital all-cause mortality.ResultsThe primary outcome was met in 113 (48%) of patients. The overall mortality was 70%, significantly higher in the ICU group [102 (90.2%) vs. 62 (50.1%), p &lt; 0.001]. The rate of intrahospital infections was significantly higher in the ICU group while there were no significant differences in the length of hospital stay between the groups. The ICU group exhibited significant increases in D-dimer, NLR, and NEWS values, accompanied by a significant decrease in the SaO2/FiO2 ratio. The multivariable COX proportional regression analysis identified malignancy, higher levels of 4C Mortality Score and NEWS2 as significant predictors of mortality.ConclusionHigh-Flow Nasal Cannula oxygen therapy is a safe type of respiratory support in patients with COVID-19 pneumonia and acute hypoxemic respiratory failure with significantly less possibility for emergence of intrahospital infections. In 52% of patients, HFNC was successful in treating AHRF in COVID-19 patients. Overall, mortality in COVID-19 pneumonia with AHRF is still very high, especially in patients treated with noninvasive/invasive mechanical ventilation.
Molecular defects in primary ciliary dyskinesia are associated with agenesis of the frontal and sphenoid paranasal sinuses and chronic rhinosinusitis
Authors: Schramm Andre , Raidt Johanna , Gross Anika , Böhmer Maik , Beule Achim Georg , Omran Heymut 
Published: October 2023

Background: Primary ciliary dyskinesia (PCD; MIM 242650) is a rare genetic disorder characterized by malfunction of the motile cilia resulting in reduced mucociliary clearance of the airways. Together with recurring infections of the lower respiratory tract, chronic rhinosinusitis (CRS) is a hallmark symptom of PCD. Data on genotype–phenotype correlations in the upper airways are scarce.Materials and methods: We investigated the prevalence, radiologic severity, and impact on health-related quality of life (HrQoL) of CRS in 58 individuals with genetically confirmed PCD. Subgroup analysis was performed according to the predicted ultrastructural phenotype based on genetic findings.Results: Among 58 individuals harboring pathogenic variants in 22 distinct genes associated with PCD, all were diagnosed with CRS, and 47% underwent sinus surgery. A total of 36 individuals answered a German-adapted version of the 20-item Sinonasal Outcome Test (SNOT-20-GAV) with a mean score of 35.8 ± 17, indicating a remarkably reduced HrQoL. Paranasal sinus imaging of 36 individuals showed moderate-to-severe opacification with an elevated Lund–Mackay Score (LMS) of 10.2 ± 4.4. Bilateral agenesis of frontal sinus (19%) and sphenoid sinus (9.5%) was a frequent finding in individuals aged 16 years or older. Subgroup analysis for predicted ultrastructural phenotypes did not identify differences in HrQoL, extent of sinus opacification, or frequency of aplastic paranasal sinuses.Conclusion: PCD is strongly associated with CRS. The high burden of disease is indicated by decreased HrQoL. Therefore, the upper airways of PCD individuals should be evaluated and managed by ear–nose–throat (ENT) specialists. Genetically determined PCD groups with predicted abnormal versus (near) normal ultrastructure did not differ in disease severity. Further studies are needed to gain evidence-based knowledge of the phenotype and management of upper airway manifestations in PCD. In addition, individuals with agenesis of the frontal and sphenoid paranasal sinuses and chronic respiratory symptoms should be considered for a diagnostic evaluation of PCD.
Retina and microvascular alterations in migraine: a systemic review and meta-analysis
Authors: Liu Ziqiang , Jie Chuanhong , Wang Jianwei , Hou Xiaoyu , Zhang Weiqiong , Wang Jingying , Deng Yu , Li Yuanyuan 
Published: October 2023

ObjectiveThis study aimed to evaluate the retina and microvascular alterations with optical coherence tomography (OCT) or optical coherence tomography angiography (OCTA) in patients with migraine with aura (MA) and migraine without aura (MO).MethodsPubMed, Embase, and Cochrane Library databases were searched to find relevant literature on patients with MA or MO using OCT/OCTA devices. The eligible data were analyzed by Stata Software (version 15.0).ResultsThere were 16 studies identified, involving 379 eyes with MA, 583 eyes with MO, and 658 eyes of healthy controls. The thickness of the peripapillary retinal nerve fiber layer (pRNFL) of patients with MA decreased significantly in most regions. The foveal avascular zone (FAZ) area and perimeter in MA patients significantly enlarged, while the perfusion density (PD) in the macular deep capillary plexus (mDCP) significantly decreased in the whole image and its subregions except for the fovea, with the PD in radial peripapillary capillary (RPC) decreasing inside the disk. Patients with MO demonstrated a significantly decreased thickness of pRNFL in most regions, and the FAZ parameters were significantly enlarged. No statistical significance was observed in the retina and microvascular features of patients with MA and MO.ConclusionThe eyes affected by MA and MO demonstrated significantly reduced thickness of pRNFL and enlarged FAZ. Patients with MA showed retinal microvascular impairments, including a decreased PD in mDCP. The OCT and OCTA could detect membrane morphology and circulation status in migraine and might provide the basis for the diagnosis and follow-up of patients with migraine.Systematic review registrationhttps://www.crd.york.ac.uk/prospero/, CRD42023397653.
Human milk oligosaccharide composition and associations with growth: results from an observational study in the US
Authors: Mainardi Fabio , Binia Aristea , Rajhans Purva , Austin Sean , Deoni Sean , Schneider Nora 
Published: October 2023

BackgroundBreast milk is the recommended source of nutrients for newborns and infants. Human milk oligosaccharides (HMO) are the third most abundant solid component in human milk and their composition varies during lactation.ObjectivesOur objective was to investigate longitudinal and cross-sectional changes in HMO composition and whether these changes were associated with infant growth up to 24 months of age. Associations with maternal characteristics were also investigated.Methods24 HMOs were quantified in samples taken at 2 weeks (n = 107), 6 weeks (n = 97) and 3 months (n = 76), using high performance liquid chromatography. Body length, weight, and head circumference were measured at 8 timepoints, until 24 months. Clusters of breast milk samples, reflecting different HMO profiles, were found through a data-driven approach. Longitudinal associations were investigated using functional principal component analysis (FPCA) and used to characterize patterns in the growth trajectories.ResultsFour clusters of samples with similar HMO composition were derived. Two patterns of growth were identified for length, body weight and head circumference via the FPCA approach, explaining more than 90% of the variance. The first pattern measured general growth while the second corresponded to an initial reduced velocity followed by an increased velocity (“higher velocity”). Higher velocity for weight and height was significantly associated with negative Lewis status. Concentrations of 3’GL, 3FL, 6’GL, DSNLT, LNFP-II, LNFP-III, LNT, LSTb were negatively associated with higher velocity for length.ConclusionWe introduced novel statistical approaches to establish longitudinal associations between HMOs evolution and growth. Based on our approach we propose that HMOs may act synergistically on children growth. A possible causal relationship should be further tested in pre-clinical and clinical setting.
Clinical outcomes and risk factors of non-curative endoscopic submucosal dissection for early gastric cancer: a retrospective multicenter study in Zhejiang, China
Authors: Jin Chao-qiong , Zhao Jing , Ding Xiao-yun , Yu Liang-liang , Ye Guo-liang , Zhu Xin-jian , Shen Jian-wei , Yang Ye , Jin Bo , Zhang Chun-li , Lv Bin 
Published: October 2023

BackgroundEndoscopic submucosal dissection (ESD) for early gastric cancer (EGC) does not always lead to curative resection. Risk factors of lymph node metastasis (LNM)/local cancer residue after non-curative ESD for EGC have not been fully elucidated. We therefore aimed to clarify them and evaluate whether the “eCura system” is reliable for the risk stratification of LNM after non-curative ESD.MethodsWe conducted a multicenter retrospective study at seven institutions in Zhejiang, China, on 128 patients who underwent non-curative ESD for EGC. We divided the patients into two groups according to their therapeutic regimen after non-curative ESD. We analyzed the risk factors for LNM, local cancer residue, cancer recurrence, and cancer-specific mortality. Furthermore, we compared the outcomes in each risk category after applying the “eCura system”.ResultsAmong 68 patients undergoing additional surgery, LNM was found in three (4.41%) patients, while local cancer residue was found in eight (11.76%) patients. Multivariate analysis showed that upper third location and deep submucosal invasion were independent risk factors of LNM and local cancer residue. Among 60 patients who underwent simple follow-up, local cancer recurrence was found in four (6.67%) patients and cancer-specific mortality was found in one (1.67%) patient. There were no independent risk factors of cancer recurrence and cancer-specific mortality in our study. During the follow-up period, 5-year overall survival (OS) and disease-free survival (DFS) were 93.8% and 88.9%, respectively. Additionally, LNM and cancer recurrence were significantly associated with the eCura scoring system (p = 0.044 and p = 0.017, respectively), while local cancer residue and cancer-specific mortality were not (p = 0.478 and p = 0.131, respectively).ConclusionClinicians should be aware of the risk factors for the prognosis of patients with non-curative ESD to determine subsequent treatment. Through the application of the “eCura system”, additional surgery should be performed in patients with intermediate/high risk of LNM.
Case Reports: A role of postoperative radiation therapy in completely resected early stage intrathyroid thymic carcinoma: a case report and literature review of the diagnosis and treatment
Authors: Cui Ailin , Du Yaoqiang , Hou Chunjie , Zhang Lin , Sun Litao , He Hongfeng 
Published: October 2023

BackgroundIntrathyroid thymic carcinoma (ITTC) is a rare malignant tumor of the thyroid, probably arising from ectopic thymus or branchial pouch remnants. Most of the literature recommended radical resection as the fundamental treatment for ITTC, and postoperative radiation appears to be able to reduce the recurrence rate in patients with advanced ITTC. However, the issue of adjuvant radiotherapy in completely resected early-stage ITTC has been controversial.Case presentationHere, we reported a new case of early-stage ITTC that treated with total thyroidectomy and the right central neck dissection. Postoperative external beam radiation therapy (50.0 Gy/25 fractions) was given to the thyroid bed and bilateral cervical lymph node area since the tumor involved part of the sternal thyroid muscle. At 4-year follow-up after completion of radiotherapy, she is without evidence of locally recurrent or distant disease.ConclusionSince there are no current guidelines for early-stage ITTC, in combination with this case and previous literature, we may suggest routine adjuvant radiotherapy should be considered in patients with incompletely resected tumors and extraparenchymal extension of ITTC. Moreover, we summarized comprehensive and advanced diagnosis, treatment, prognosis of ITTC and comparison between ITTC, primary squamous cell carcinoma of thyroid gland, differentiated thyroid cancer, and anaplastic thyroid cancer.
Lobectomy versus segmentectomy for stage IA3 (T1cN0M0) non-small cell lung cancer: a meta-analysis and systematic review
Authors: Zhang Wanfei , Chen Shaogeng , Lin Xianzuan , Chen Hongbo , He Rongqi 
Published: October 2023

BackgroundSegmentectomy has been proven to have better survival and perioperative efficacy than lobectomy for non-small cell lung cancer (NSCLC) up to 2 cm. Whether this result is applicable to stage T1cN0M0 NSCLC (2.1 to 3 cm) remains controversial.MethodsWe conducted a comprehensive search across seven databases to identify relevant studies comparing lobectomy and segmentectomy procedures. Our primary focus was on survival indicators (overall survival [OS] and disease-free survival [DFS]), while for secondary outcomes, operative outcomes, hospitalization outcomes, recurrences, and complications were considered.ResultsAfter screening, the final analysis included 10 studies (involving 22113 patients in the lobectomy group and 1627 patients in the segmentectomy group). The lobectomy procedure achieved better OS (hazard ratio [HR]: 1.19 [1.07~1.33]) and DFS (HR: 1.37 [1.10~1.71]), which were proven in all subgroups. The OS rate at 2-5 years and DFS rate at 4-5 years were higher in the lobectomy group. The advantages of OS and DFS in the lobectomy group increased over the survival time. More lymph node dissections, intraoperative blood loss and total complications were found in the lobectomy group. Similar hospital stays, 90-day mortality and conversion thoracotomy were found between the two groups.ConclusionLobectomy appeared to be the better choice for patients with stage T1cN0M0 NSCLC with better survival (OS and DFS). However, the complications needed to be taken seriously.Systematic review registrationhttps://www.crd.york.ac.uk/PROSPERO/, identification CRD42023445013.