bluuebunny/crossref_metadata_2025_split huggingface dataset:
Development and validation of a machine learning-based nomogram for predicting HLA-B27 expression
Authors: Zhu Jichong , Tan Weiming , Zhan Xinli , Lu Qing , Liang Tuo , JieJiang  , Li Hao , Zhou Chenxing , Wu Shaofeng , Chen Tianyou , Yao Yuanlin , Liao Shian , Yu Chaojie , Chen Liyi , Liu Chong 
Published: September 2023

Abstract
Background
HLA-B27 positivity is normal in patients undergoing rheumatic diseases. The diagnosis of many diseases requires an HLA-B27 examination.

Methods
This study screened totally 1503 patients who underwent HLA-B27 examination, liver/kidney function tests, and complete blood routine examination in First Affiliated Hospital of Guangxi Medical University. The training cohort included 509 cases with HLA-B27 positivity whereas 611 with HLA-B27 negativity. In addition, validation cohort included 147 cases with HLA-B27 positivity whereas 236 with HLA-B27 negativity. In this study, 3 ML approaches, namely, LASSO, support vector machine (SVM) recursive feature elimination and random forest, were adopted for screening feature variables. Subsequently, to acquire the prediction model, the intersection was selected. Finally, differences among 148 cases with HLA-B27 positivity and negativity suffering from ankylosing spondylitis (AS) were investigated.

Results
Six factors, namely red blood cell count, human major compatibility complex, mean platelet volume, albumin/globulin ratio (ALB/GLB), prealbumin, and bicarbonate radical, were chosen with the aim of constructing the diagnostic nomogram using ML methods. For training queue, nomogram curve exhibited the value of area under the curve (AUC) of 0.8254496, and C-value of the model was 0.825. Moreover, nomogram C-value of the validation queue was 0.853, and the AUC value was 0.852675. Furthermore, a significant decrease in the ALB/GLB was noted among cases with HLA-B27 positivity and AS cases.

Conclusion
To conclude, the proposed ML model can effectively predict HLA-B27 and help doctors in the diagnosis of various immune diseases.
The development of a highly sensitive and quantitative SARS-CoV-2 rapid antigen test applying newly developed monoclonal antibodies to an automated chemiluminescent flow-through membrane immunoassay device
Authors: Nishimura Kengo , Kitazawa Hiroaki , Kawahata Takashi , Yuhara Kosuke , Masuya Takahiro , Kuroita Toshihiro , Waki Kentarou , Koike Seiichi , Isobe Masaharu , Kurosawa Nobuyuki 
Published: September 2023

Abstract
Background
Rapid and accurate diagnosis of individuals with SARS-CoV-2 infection is an effective way to prevent and control the spread of COVID-19. Although the detection of SARS‐CoV‐2 viral RNA by RT‐qPCR is the gold standard for COVID-19 testing, the use of antigen-detecting rapid diagnostic tests (Ag-RDTs) is emerging as a complementary surveillance tool as Omicron case numbers skyrocket worldwide. However, the results from Ag-RDTs are less accurate in individuals with low viral loads.

Results
To develop a highly sensitive and accurate Ag-RDT, 90 monoclonal antibodies were raised from guinea pigs immunized with SARS CoV-2 nucleocapsid protein (CoV-2-NP). By applying a capture antibody recognizing the structural epitope of the N-terminal domain of CoV-2-NP and a detection antibody recognizing the C-terminal tail of CoV-2-NP to an automated chemiluminescence flow-through membrane immunoassay device, we developed a novel Ag-RDT, CoV-2-POCube. The CoV-2-POCube exclusively recognizes CoV-2-NP variants but not the nucleocapsid proteins of other human coronaviruses. The CoV-2-POCube achieved a limit of detection sensitivity of 0.20 ~ 0.66 pg/mL of CoV-2-NPs, demonstrating more than 100 times greater sensitivity than commercially available SARS-CoV-2 Ag-RDTs.

Conclusions
CoV-2-POCube has high analytical sensitivity and can detect SARS-CoV-2 variants in 15 min without observing the high-dose hook effect, thus meeting the need for early SARS-CoV-2 diagnosis with lower viral load. CoV-2-POCube is a promising alternative to currently available diagnostic devices for faster clinical decision making in individuals with suspected COVID-19 in resource-limited settings.
Immune cell profiles of idiopathic inflammatory myopathy patients expressed anti-aminoacyl tRNA synthetase or anti-melanoma differentiation-associated gene 5 autoantibodies
Authors: Lan Joung-Liang , Chang Shih-Hsin , Tsay Gregory J. , Chen Der-Yuan , Chao Yu-Hua , Li Ju-Pi 
Published: September 2023

Abstract
Background
Patients with idiopathic inflammatory myopathy (IIM) often express a different type of myositis-specific autoantibodies (MSAs), each associated with different clinical symptoms. Understanding the immunopathogenesis of various IIM subgroups can help improve the diagnosis and prognosis of IIM patients with different MSAs. However, the immune cell profiles of these IIM patients with anti-aminoacyl tRNA synthetase (ARS) or anti-melanoma differentiation-associated gene 5 (MDA5) autoantibodies remain unclear. We focused on the immune cell profiles of IIM patients with anti-ARS or anti-MDA5 autoantibodies.

Results
The peripheral blood from IIM patients with anti-MDA5 autoantibody (MDA5 + group, n = 24) or one of the anti-ARS autoantibodies (ARS + group, n = 40) autoantibodies, and healthy controls (HC group, n = 60) were collected and examined. We found that IIM patients had a lower CD3 T cell population compared to the HC group. IIM patients showed a significantly lower TN cell population and a higher TEMRA cell population. Higher Th17 and Treg cell populations were found in these IIM patients than in the HC group. In these IIM patients, the MDA5 + group exhibited the higher percentages of Th17 and Treg cells than the ARS + group. It is noteworthy that the percentage of Th1 cells in the survival subgroup was higher than in the death subgroup in IIM patients with ARS + or MDA5 + . Furthermore, in the MDA5 + group, the percentage of Treg cells was higher in the survival subgroup compared to the death subgroup.

Conclusions
Our study demonstrated that elevated Th1 may be a good prognostic indicator in IIM patients with ARS + or MDA5 + . Elevated Treg may also help predict a good prognosis in MDA5 + IIM patients. However, more large-scale studies and clinical samples are needed to verify the significance of Th1 and Treg cell subsets in clinical outcomes for these IIM patients with ARS + or MDA5 + . These data may help design a therapeutic approach that specifically targets the pathogenic immune molecular responsible for autoimmune attacks in IIM.
Antifungal activity of Lysinibacillus macroides against toxigenic Aspergillus flavus and Fusarium proliferatum and analysis of its mycotoxin minimization potential
Authors: Mahmoud Ahmed Lotfy E. , Kilany Ayat H. A. Mohamed , Hassan Elhagag A. 
Published: September 2023

Abstract
Background
Toxigenic fungi (Aspergillus and Fusarium) and their metabolites represent the major cause of corn and corn-based products contamination and consequently lead to severe economic and health issues.

Aim
Our current study aimed to investigate the efficacy of using L. macroides Bac6 as a biological control agent against the toxigenic fungi; A. flavus f10 and F. proliferatum f30 and their mycotoxins.

Results
The results illustrated that A. flavus f10 produced the aflatoxins AFB1 and AFG2 with concentrations of 21.239 and 13.593 ppb, respectively. While F. proliferatum f30 produced fumonisin B1 (9600 ppb). Furthermore, L. macroides showed a high potential for inhibition of toxigenic fungal growth using a dual culture method. F. proliferatum f30 and A. flavus f10 were found to be inhibited by a percentage of 80 and 62.5%, respectively. The results were confirmed using the scanning electron microscope. The antagonistic bacteria, L. macroides, showed chitinase productivity and activity of 26.45 U/L and 0.12 U/mL/min, respectively, which illustrates its potential application as a biocontrol agent. The GC-MS analysis revealed an abundance of Pyrrolo[1,2-a] pyrazine-1,4-dione, Hexahydro in the bacterial supernatant that exhibited antifungal characteristics. L. macroides had a significant reduction of AFB1 and AFG2 produced by A. flavus f10, recording 99.25% and 99% inhibition, respectively. It also showed strong inhibition of fumonisin B1 (90% inhibition) produced by F. proliferatum f30. Conclusion: Thus, the current study is a prospective study evaluating for the first time the potential impact of L. macroides Bac6 against the toxigenic fungi and their toxins.
First case report of PLA2R-related monotypic (IgG-κ positive) membranous nephropathy concurrent with leukocyte chemotactic factor 2 amyloidosis
Authors: Xu Jing , Wang Xinlu , Weng Qinjie , Feng Xiaobei , Pan Xiaoxia 
Published: September 2023

Abstract
Background
Membranous nephropathy (MN) is a major pattern of nephrotic syndrome (NS) in adults. Some MN have secondary causes and some may be accompanied with other glomerular diseases. MN patients coexisting with amyloidosis are very rare, and mostly was polytypic MN. Herein, we describe the first report which identifying monotype PLA2R-MN (κ light chain) concurrent with leukocyte chemotactic factor 2 amyloidosis (ALECT2). This rare case highlights the importance of renal pathology for diagnosis.

Case presentation
We describe a case of a 60-year-old male patient with persistent proteinuria and low serum albumin for nine months. No monoclonal component was revealed by serum and urine immunofixation electrophoresis but serum PLA2R antibody was positive. The patient was empirically treated with Leflunomide and Losartan, but edema was not improved. The diagnosis of renal pathology is PLA2R-related monotypic (IgG-κ positive) MN concurrent with ALECT2. Methylprednisolone, cyclosporine A and anticoagulant (rivaroxaban) were prescribed resulting in a complete remission of NS.

Conclusions
MN patients concurrent with ALECT2 presented massive proteinuria or NS. When nephrotic range proteinuria is present in ALECT2, it is important to consider that it may be due to a concomitant underlying nephropathy especially MN and treated according to MN will get good therapeutic effect.
Prevalence of human papillomavirus in eyelid carcinoma among Koreans: a clinicopathological study
Authors: Yang Min Kyu , Kim Namju , Choung Hokyung , Kim Ji Eun , Khwarg Sang In 
Published: September 2023

Abstract
Background
Human papillomavirus (HPV) has been detected in eyelid sebaceous gland carcinoma (SGC) and squamous cell carcinoma (SCC), and detection rates greatly varied across studies. This study aimed to investigate the presence of HPV in eyelid SGC and SCC among Koreans and its correlation with clinicopathological characteristics.

Methods
Surgically resected eyelid samples diagnosed as SGC or SCC from January 1999 to June 2011 were identified from the pathology database of three referral centres in Korea. Clinicopathological information including origin (skin vs. tarsal conjunctiva) and treatment outcomes were retrospectively reviewed. Immunohistochemistry (IHC) for p16, HPV DNA in situ hybridisation (ISH), and polymerase chain reaction-based DNA microarray were performed in paraffin-embedded tissue sections.

Results
Our cohort included 34 SGC and 12 SCC cases with Asian ethnicity. HPV was detected in 4 SGC and 6 SCC by DNA microarray, while 2 SCC (16.7%) showed positivity in ISH. SCC of tarsal conjunctival origin was significantly more common in HPV-positive SCC than in HPV-negative SCC (5 of 6 vs. 0 of 6, P = 0.015, Fisher’s exact test). Among samples showing positive staining in p16 IHC, HPV positivity rates were 0.0% (0/19) in SGC and 100% (3/3) in SCC. There was no significant difference in overall and local recurrence rate in eyelid SGC and SCC according to the HPV status (P > 0.99).

Conclusions
HPV was found in a subset of eyelid SGC and SCC among Koreans and might be aetiologically related to SCC of tarsal conjunctival origin. Overexpression of p16 is considered to be inappropriate as an indicator of HPV infection in eyelid SGC. Further investigation is required to elucidate the transmission route and pathogenic roles of HPV.
Four-flanged polypropylene optic piercing technique for scleral fixation of multifocal intraocular lens
Authors: Eom Youngsub , Koh Eunheh , Yang Seul Ki , Kim Soo , Yi Sungtae , Jeon Hyun Sun , Kim Seong-Jae , So Jason , Song Jong Suk , Cooke David L 
Published: September 2023

Abstract
Background
To evaluate the feasibility of creating flanges using an optic piercing technique with a 6 − 0 polypropylene monofilament for scleral fixation of dislocated one-piece diffractive multifocal intraocular lenses (IOLs).

Study Design
Experimental study and case series.

Subjects
Optical bench test and eyes with IOL dislocation.

Methods
Two separate 6 − 0 polypropylenes were penetrated twice at the opposite peripheral optic of the TECNIS Synergy IOL (Johnson & Johnson Vision). The root mean square of the modulation transfer function (MTFRMS), at between + 1.00 and − 4.00 D of defocus, was measured in the TECNIS Synergy IOL both with and without optic piercing in the optical bench study. This case series included three eyes from two patients who underwent scleral-fixation of multifocal IOLs using the four-flanged polypropylene optic piercing technique. The postoperative corrected distance visual acuity (CDVA) at 4 m, the uncorrected near visual acuity (UNVA) at 40 cm, and IOL centration were evaluated.

Results
The optical bench test showed no differences in MTFRMS values measured in the TECNIS Synergy IOL, either with or without optic piercing at all defocuses. In all three case series, the postoperative CDVA at 4 m was 20/20 and UNVA at 40 cm was J1. Postoperative anterior segment photographs showed good centration of IOLs in all cases.

Conclusion
The four-flanged polypropylene optic piercing technique for multifocal IOL scleral fixation can provide excellent clinical outcomes and IOL stability after surgery without diminishing the performance of the multifocal IOLs.
Unraveling mucolipidosis type III gamma through whole genome sequencing in late-onset retinitis pigmentosa: a case report
Authors: De Geer Karl , Mascianica Katarzyna , Naess Karin , Sardh Eliane , Lindstrand Anna , Björck Erik 
Published: September 2023

Abstract
Background
We describe the case of a 47-year-old man referred to a retinal clinic and diagnosed with late-onset retinitis pigmentosa. Surprisingly, genetic testing revealed compound heterozygous pathogenic variants in GNPTG, leading to the diagnosis of the autosomal recessive lysosomal storage disorder mucolipidosis type III gamma. Mucolipidosis type III gamma is typically diagnosed during childhood due to symptoms relating to skeletal dysplasia. Retinal dystrophy is not a common phenotypic feature.

Case presentation
Ophthalmologic examination was consistent with a mild form of retinitis pigmentosa and included fundus photography, measurement of best-corrected visual acuity, optical coherence tomography, electroretinogram and visual field testing. Extraocular findings included joint restriction and pains from an early age leading to bilateral hip replacement by age 30, aortic insufficiency, and hypertension. Genetic analysis was performed by whole genome sequencing filtered for a gene panel of 325 genes associated with retinal disease. Two compound heterozygous pathogenic variants were identified in GNPTG, c.347_349del and c.607dup. The diagnosis of mucolipidosis type III gamma was confirmed biochemically by measurement of increased activities of specific lysosomal enzymes in plasma.

Conclusion
To our knowledge this is the first description of retinitis pigmentosa caused by compound heterozygous variants in GNPTG, providing further indications that late-onset retinal dystrophy is part of the phenotypic spectrum of mucolipidosis type III gamma.
A novel microdeletion of 517 kb downstream of the PAX6 gene in a Chinese family with congenital aniridia
Authors: Li Yinwen , Chen Jieqiong , Zheng Ying , Chen Zhixuan , Wang Tao , Sun Qian , Wan Xiaoling , Liu Haiyun , Sun Xiaodong 
Published: September 2023

Abstract
Background
To identify the disease-causing gene in a Chinese family affected with congenital aniridia.

Methods
Patients underwent systematic ophthalmic examinations such as anterior segment photography, fundus photography, optical coherence tomography, and fundus fluorescein angiography. The proband was screened for pathogenic variants by whole exome sequencing (WES) and copy number variant (CNV) analysis. Real-time quantitative PCR (RT-qPCR) was applied to confirm the CNV results. Breakpoints were identified by long-range PCR followed by Sanger sequencing.

Results
All seven members of this Chinese family, including four patients and three normal individuals, were recruited for this study. All patients showed bilateral congenital aniridia with nystagmus, except the son of the proband, who presented with bilateral partial coloboma of the iris. A novel heterozygous deletion (chr11:31,139,019–31,655,997) containing the 3’ regulatory enhancers of the PAX6 gene was detected in this family. We also reviewed the reported microdeletions downstream of PAX6 in patients with aniridia.

Conclusions
We identified a novel microdeletion, 517 kb in size located about 133 kb downstream of the PAX6 gene, responsible for congenital aniridia in this Chinese family, which expands the spectrum of aniridia-associated mutations in PAX6.
Time-sensitive testing pressures and COVID-19 outcomes: are socioeconomic inequalities over the first year of the pandemic explained by selection bias?
Authors: Carter Alice R , Clayton Gemma L , Borges M Carolina , Howe Laura D , Hughes Rachael A , Smith George Davey , Lawlor Deborah A , Tilling Kate , Griffith Gareth J 
Published: September 2023

Abstract
Background
There are many ways in which selection bias might impact COVID-19 research. Here we focus on selection for receiving a polymerase-chain-reaction (PCR) SARS-CoV-2 test and how known changes to selection pressures over time may bias research into COVID-19 infection.

Methods
Using UK Biobank (N = 420,231; 55% female; mean age = 66.8 [SD = 8·11]) we estimate the association between socio-economic position (SEP) and (i) being tested for SARS-CoV-2 infection versus not being tested (ii) testing positive for SARS-CoV-2 infection versus testing negative and (iii) testing negative for SARS-CoV-2 infection versus not being tested. We construct four distinct time-periods between March 2020 and March 2021, representing distinct periods of testing pressures and lockdown restrictions and specify both time-stratified and combined models for each outcome. We explore potential selection bias by examining associations with positive and negative control exposures.

Results
The association between more disadvantaged SEP and receiving a SARS-CoV-2 test attenuated over time. Compared to individuals with a degree, individuals whose highest educational qualification was a GCSE or equivalent had an OR of 1·27 (95% CI: 1·18 to 1·37) in March-May 2020 and 1·13 (95% CI: 1.·10 to 1·16) in January-March 2021. The magnitude of the association between educational attainment and testing positive for SARS-CoV-2 infection increased over the same period. For the equivalent comparison, the OR for testing positive increased from 1·25 (95% CI: 1·04 to 1·47), to 1·69 (95% CI: 1·55 to 1·83). We found little evidence of an association between control exposures, and any considered outcome.

Conclusions
The association between SEP and SARS-CoV-2 testing changed over time, highlighting the potential of time-specific selection pressures to bias analyses of COVID-19. Positive and negative control analyses suggest that changes in the association between SEP and SARS-CoV-2 infection over time likely reflect true increases in socioeconomic inequalities.
The association between three-dimensional measurement of posterior tilt angle in impacted femoral neck fractures and osteonecrosis of the femoral head
Authors: Cong Bo , Zhang Haiguang 
Published: September 2023

Abstract
Background
Hollow screw internal fixation is commonly used in clinical treatment of impacted femoral neck fractures. Previous studies have demonstrated a correlation between the preoperative posterior tilt angle of the femoral head and failure of internal fixation, but there are fewer studies related to the occurrence of postoperative femoral head necrosis and the posterior tilt angle.

Methods
To examine the relationship between three-dimensional posterior tilt angle measurements in affected femoral neck fractures and postoperative osteonecrosis of the femoral head and related risk variables. We retrospectively examined 130 Yantaishan Hospital patients with affected femoral neck fractures from 2019 to 2022. Three-dimensional reconstruction technology assessed the posterior tilt angle of the femoral head and separated patients into necrosis and non-necrosis groups based on postoperative femoral head necrosis. Univariate analysis compared clinical data between groups, and multivariate logistic regression analyzed risk variables for femoral head necrosis. Postoperative femoral head necrosis was predicted by posterior tilt angle using Receiver operating characteristic (ROC) curve analysis.

Results
Out of 130 patients who were followed up for 16–68 months postoperatively, 20 developed femoral head necrosis. Multivariate logistic regression analysis indicated that the posterior tilt angle and reduction quality level C were risk factors for the occurrence of femoral head necrosis. The ROC curve analysis showed that the three-dimensional measurement of the posterior tilt angle had predictive value for postoperative femoral head necrosis, with a cut-off value of 20.6°.

Conclusions
These results suggest that, for patients with impacted femoral neck fractures, the posterior tilt angle and reduction quality level C are risk factors for femoral head necrosis following closed reduction and internal fixation surgery. Fracture patients with a posterior tilt angle ≥ 20.6°are more likely to experience postoperative femoral head necrosis.
Lateral classification system predicts the collapse of JIC type C1 nontraumatic osteonecrosis of the femoral head: a retrospective study
Authors: Lin Tianye , Zhang Wensheng , He Xiaoming , He Mincong , Li Ziqi , He Wei , Chen Zhenqiu , Zhang Qingwen , Wei Qiushi 
Published: September 2023

Abstract
Purposes
The aim of this study was to construct a lateral classification system for nontraumatic osteonecrosis of femoral head (NONFH) through three-dimensional reconstruction of the necrotic area to assist in evaluating the prognosis of patients with JIC type C1.

Methods
Retrospective analysis of patients with JIC type C1 NONFH from January 2018 to December 2020. All patients were followed up for more than 3.5 years. The patients were divided into collapse group and non-collapse group according to whether the femoral head collapsed during the follow-up.Lateral classification system for femoral head necrosis is constructed through three-dimensional reconstruction of the necrotic area.Comparison of lateral classification system,midsagittal necrosis angle(MNA)and general data between the two groups.Furthermore, ROC curve analysis and survival analysis were performed.

Results
318 patients were included in this study.There was a significant difference between the two groups in the lateral classification system (P < 0.05). In addition, the MNA in the collapsed group was significantly greater than that in the non-collapse group(P < 0.05). As revealed by the results of ROC analysis, the cutoff point of MNA was 104.5° (P < 0.05).According to the survivorship analysis, the mean survival time of the hips of patients with MNA less than 104.5°was greater than that of patients with MNA over 104.5° (P < 0.05). The survival rates of 3.5 years femoral head were 45.8%, 33.7%, 14.8%, 93.0%, and 100% for lateral classification system 1, 2, 3, 4, and 5, respectively.

Conclusion
Necrosis involving the anterior aspect of the femoral head is an important risk factor for collapse. The Lateral classification system can effectively predict the femoral head collapse in JIC C1 type NONFH patients, supplementing the deficiency of JIC classification in evaluating the front of the femoral head.