ObjectiveTo systematically review the accuracy of T-cell receptor excision circles (TRECs) in screening newborns for severe combined immunodeficiency (SCID). MethodsThe PubMed, EMbase, Cochrane Library, Web of Science, CBM, WanFang Data and CNKI databases were electronically searched to collect the diagnostic accuracy studies related to the objects from inception to October 26, 2022. Two reviewers independently screened the literature, extracted data, and assessed the risk of bias of the included studies using the QUADAS-2 scale. Meta-analysis was performed using Stata 15.0 and Meta-Disc 1.4 software. ResultsA total of 18 studies involving 6 243 718 neonates were included. The results of meta-analysis showed that the pooled sensitivity (SEN), specificity (SPE), positive likelihood ratio (PLR), negative likelihood ratio (NLR), and diagnosis odds ratio (DOR) were 0.97 (95%CI 0.92 to 0.99), 1.00 (95%CI 1.00 to 1.00), 1447.05 (95%CI 528.49 to 3962.11), 0.13 (95%CI 0.08 to 0.22) and 11698.21 (95%CI 2853.44 to 47958.98), respectively. The area under the summary receiver operating characteristic curve (SROC) was 0.97. ConclusionThe application of TRECs in screening neonatal SCID has high accuracy, which is helpful for early diagnosis of SCID. Due to the limited quality and quantity of the included studies, more high-quality studies are needed to verify the above conclusion.
Early screening is an important means to reduce breast cancer mortality. In order to solve the problem of low breast cancer screening rates caused by limited medical resources in remote and impoverished areas, this paper designs a breast cancer screening system aided with portable ultrasound Clarius. The system automatically segments the tumor area of the B-ultrasound image on the mobile terminal and uses the ultrasound radio frequency data on the cloud server to automatically classify the benign and malignant tumors. Experimental results in this study show that the accuracy of breast tumor segmentation reaches 98%, and the accuracy of benign and malignant classification reaches 82%, and the system is accurate and reliable. The system is easy to set up and operate, which is convenient for patients in remote and poor areas to carry out early breast cancer screening. It is beneficial to objectively diagnose disease, and it is the first time for the domestic breast cancer auxiliary screening system on the mobile terminal.
ObjectiveTo preliminarily explore the effect of Osteoporosis Self-assessment Tool for Asians (OSTA) and Fracture Risk Assessment Tool (FRAX) on predicting osteoporosis and osteoporosis fracture in postmenopausal patients with maintenance hemodialysis (MHD).MethodsThirty-six postmenopausal patients undergoing MHD from August 2017 to October 2018 in Hemodialysis Center of Nephrology Department, West China Hospital of Sichuan University were selected. Relevant data such as age, height, and weight were collected. OSTA index and the 10-year probability of major osteoporotic fractures and 10-year probability of hip fractures of FRAX score were calculated. Bone mineral densities (BMD) of the hip and lumbar spine were measured by dual energy X-ray absorptiometry (DXA) at the same time. The value of OSTA index and FRAX scale in evaluating the risk of osteoporosis predicated on T value ≤−2.5 determined by DXA BMD and fracture in postmenopausal patients with MHD were analyzed.ResultsThe DXA BMD of the 36 patients showed that 50.0% (18/36) had a T value≤−2.5, and 30.6% (11/36) had a fracture history. BMD in postmenopausal patients with MHD was negatively correlated with FRAX score (model without BMD values), and positively correlated with OSTA index. The sensitivity and specificity of OSTA in the prediction of osteoporosis were 94.4% and 61.1%, respectively; and the sensitivity and specificity of FRAX (the model without BMD values) in the prediction of osteoporosis were 88.9% and 50.0%, respectively. The FRAX score with or without BMD had the same clinical value in predicting osteoporosis.ConclusionsPostmenopausal MHD patients have a higher risk of osteoporosis and fracture. Both OSTA index and FRAX scale can predict osteoporosis risk among postmenopausal MHD patients, and the FRAX scale with or without BMD has the same clinical value in predicting osteoporosis risk. In clinical work, for primary hospitals and dialysis centers lacking DXA, preliminary screening of osteoporosis in MHD patients can be performed with OSTA and FRAX scales.
ObjectiveTo reveal and demonstrate the hotspots and further research directions in screening technology for early lung cancer, and provide references for the future studies. MethodsResearches related to lung cancer screening from 2011 to 2021 in the Web of Science database were included. Biblioshiny, a bibliometrics program based on R language, was used to perform content analysis and visualization of the included literature information. ResultsResearches related to lung cancer screening were increasing year by year. Six major cooperation groups were formed between countries. The current research hotspots in the field of early lung cancer screening technology mainly focused on the multi-directional fusion of radiographic imaging, liquid biopsy and artificial intelligence. ConclusionLow-dose spiral CT screening is still the most important and mainstream method for the screening of early lung cancer at present. The combination and integration of artificial intelligence with various screening methods and the innovation of novel testing and diagnostic equipment are the current research hotspots and the future research trend in this field.
Objective To explore a novel method for early lung cancer screening based on exhaled breath analysis. MethodsThis study enrolled patients with suspected pulmonary malignancies and healthy individuals undergoing physical examinations at Sir Run Run Shaw Hospital, Zhejiang University School of Medicine (Qingchun and Qiantang campuses) from September 2023 to June 2024. Enrolled subjects were categorized into a lung cancer group, a benign nodule/tumor group, and a healthy control group. Exhaled breath samples were collected using a sensor array constructed from multiple graphene composite materials to capture breath fingerprints. Based on the collected data, screening and diagnostic models for lung cancer were developed and their performance was evaluated. ResultsA total of 4 580 subjects were included. Among them, 3 195 were pathologically diagnosed with pulmonary malignancies, including 1 394 males and 1 801 females with a mean age of (58.93±12.37) years, 599 were diagnosed with benign nodules/tumors including 339 males and 260 females with a mean age of (57.10±11.06) years, and 786 were healthy controls with no pulmonary nodules detected on chest CT including 420 males and 366 females with a mean age of (29.75±9.32) years. The screening model for high-risk populations (distinguishing patients with lung cancer/high-risk pulmonary nodules from healthy individuals) demonstrated excellent performance, with an area under the receiver operating characteristic curve (AUC) of 0.926. At the optimal Youden’s index (cutoff threshold of 63.5%), the external test set achieved a specificity of 85.2%, a sensitivity of 88.4%, and an accuracy of 86.8%. The diagnostic model (distinguishing patients with lung cancer/premalignant lesions from those with benign pulmonary nodules/healthy individuals) achieved an AUC of 0.818. At its optimal Youden’s index (cutoff threshold of 47.0%), the external test set showed a specificity of 71.7%, a sensitivity of 77.3%, and an accuracy of 74.5%. ConclusionThe non-invasive breath analysis platform based on a sensor array, developed in this study, can achieve rapid and relatively accurate lung cancer screening by analyzing breath fingerprints. This confirms the feasibility of this technology for early lung cancer screening and holds promise for facilitating the early detection and intervention of lung cancer.
ObjectiveTo establish a hereditary deafness genetic screening cohort and conduct prospective follow-up to evaluate the effectiveness of the Nantong newborn genetic deafness screening program. MethodsA study based on traditional screening of newborn hearing was conducted from January 2016 to June 2021. Newborns in six hospitals in Nantong were screened for 15 hotspot mutation loci in four common deafness genes. Cohort follow-up was conducted. ResultsA total of 40 403 newborns were included, with a carrier rate of 39.5 per 1 000 for the four common deafness genes. In total, 168 children with hearing loss (HL) were identified at screening and follow-up, of which 56.5% (95 cases) had severe or very severe HL. The detection rate of HL was significantly higher with combined screening than with traditional screening (3.0‰ vs. 3.9‰, P<0.001). All four carriers of pathogenic mutations with normal hearing developed late-onset HL within 2 years of age. At the end of follow-up, six of the polygenic heterozygous mutation carriers had congenital HL and five had late-onset HL. Carriers of polygenic heterozygous mutations were more common as compared to other carrier mutation populations (2.1% vs. 68.8%, P<0.001). In addition, 525 carriers of the SLC26A4 mutation and 118 carriers of the MT-RNR1 mutation were identified and their parents were counselled during the combined screening, and no children with HL was identified during the follow-up period. ConclusionGenetic screening for deafness improves the detection of HL at birth. It is recommended that carriers of pathogenic mutations with normal hearing at birth be followed up every 3 to 6 months until the age of 2 years. Carriers of polygenic heterozygous mutations should undergo extended screening for deafness genes and have their hearing monitored more intensively for early detection of late-onset or progressive HL.
Lung cancer is a malignant tumor with the highest incidence and mortality in China. Early diagnosis and early treatment is the key to improve the survival and prognosis of patients with lung cancer. In recent years, many studies have focused on biomarkers of lung cancer. Emerging biomarkers tests have shown some potential in lung cancer screening. Combining biomarkers, imaging omics and artificial intelligence to establish a comprehensive model for lung cancer screening and prediction may be the development direction for improving lung cancer screening in the future. This paper summarizes the application of biomarkers in lung cancer screening, introduces the emerging biomarkers and new technologies, and discusses the application prospects of biomarkers in lung cancer screening, in order to providea theoretical basis for improving screening, early diagnosis and early treatment of lung cancer.
Objective To determine the incidence of and risk fact ors for retino pathy of prematurity (ROP) among preterm infants in Beijing after implementation of the ROP guidelines. Methods The preterm infants with birth weight le; 2000 g or gestational age le; 3 4 weeks who were admitted to the neonatal intensive care units in 6 hospitals in Beijing from Jan. 1, 2005 to Dec. 31, 2005 were screened. Ophthalmologic examin ations started 3-4 weeks after birth and ROP was classified by the revised Inte r national Classification. Maternal and perinatal risk factors of occurrence of R OP were analyzed. Results In the 639 infants who had been scre ened in the 6 ho spitals, ROP was detected in 69 (10.8%), in whom 23 infants (39 eyes) (3.6%) had type 1 ROP and underwent photocoagulation. The lower the birth weight and small er the gestational age was, the higher the incidence of ROP was. Logistic regres sion analysis indicated that low birth weight, apnea gt;20 seconds, anemia, hypoxic-ischemic encephalopathy and placenta abruption were the high risk factor of R O P.Conclusion In Beijing the incidence of ROP is 10.8% after i mplementation of the ROP guidelines. Low birth weight, apnea gt;20 seconds, anemia, hypoxicischem ic encephalopathy and placenta abruption were the high risk factor of ROP.
ObjectivesTo evaluate the accuracy of liver cancer screening techniques to inform screening intervention and early diagnosis.MethodsWe searched PubMed, The Cochrane Library, EMbase, Web of Science, CNKI, WanFang Data, CBM, VIP databases to collect relevant diagnostic accuracy studies of screening technologies for liver cancer from January 1980 to December 2017. Two reviewers independently screened the literature, extracted the data and assessed the risk of bias of included studies. Then meta-analysis was performed by using Meta-Disc 1.4 software.ResultsA total of 54 publications with 47 728 individuals were included. In terms of pooled sensitivity from the meta-analysis, it was estimated as 0.71 (95%CI 0.70 to 0.72), 0.57 (95%CI 0.56 to 0.59) and 0.43 (95%CI 0.41 to 0.45); the pooled specificity was estimated as 0.92 (95%CI 0.92 to 0.93), 0.95 (95%CI 0.94 to 0.96) and 0.95 (95%CI 0.94 to 0.96); the pooled positive likelihood ratio was 5.65 (95%CI 4.37 to 7.30), 13.24(95%CI 4.25 to 41.22) and 11.39 (95%CI 4.01 to 32.35); the pooled negative likelihood ratio was 0.35 (95%CI 0.31 to 0.39), 0.38 (95%CI 0.29 to 0.52) and 0.49 (95%CI 0.39 to 0.62); the diagnosis odds ratio was 17.23 (95%CI 12.26 to 24.20), 33.79 (95%CI 12.65 to 90.24) and 24.41(95%CI 9.23 to 64.53) for AFP alone with cut-off of 20, 200 and 400 ng/mL, respectively. The pooled sensitivity, specificity, positive likelihood ratio, negative likelihood ratio and diagnosis odds ratio were 0.65 (95%CI 0.62 to 0.69), 0.97 (95%CI 0.97 to 0.97), 16.48 (95%CI 9.55 to 28.42), 0.27 (95%CI 0.18 to 0.42) and 64.54 (95%CI 30.16 to 138.11) for ultrasound examination alone. The pooled sensitivity, specificity, positive likelihood ratio, negative likelihood ratio and diagnosis odds ratio were 0.96 (95%CI 0.94 to 0.98), 0.96 (95%CI 0.96 to 0.96), 10.76 (95%CI 2.62 to 44.27), 0.07 (95%CI 0.02 to 0.22) and 160.59 (95%CI 31.61 to 816.03) for the combined strategy.ConclusionFor liver cancer screening technologies, the overall accuracy of serum AFP test alone is the optimum at cut-off of 20 ng/mL, and the sensitivity increased substantially when combined with ultrasound examination.