Non-invasive diagnostic strategy of ocular toxocariasis based on clinical features

Retina ◽  
2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Zhaoxin Jiang ◽  
Limei Sun ◽  
Li Huang ◽  
Songshan Li ◽  
Aohan Hou ◽  
...  
2014 ◽  
Vol 8 (6) ◽  
pp. e2938 ◽  
Author(s):  
Seong Joon Ahn ◽  
Se Joon Woo ◽  
Yan Jin ◽  
Yoon-Seok Chang ◽  
Tae Wan Kim ◽  
...  

2019 ◽  
Vol 13 (1) ◽  
Author(s):  
Yibo Chen ◽  
Qi Yu ◽  
Xiongying Mao ◽  
Wei Lei ◽  
Miaonan He ◽  
...  

Abstract Background Since the discovery of cell-free DNA (cfDNA) in maternal plasma, it has opened up new approaches for non-invasive prenatal testing. With the development of whole-genome sequencing, small subchromosomal deletions and duplications could be found by NIPT. This study is to review the efficacy of NIPT as a screening test for aneuploidies and CNVs in 42,910 single pregnancies. Methods A total of 42,910 single pregnancies with different clinical features were recruited. The cell-free fetal DNA was directly sequenced. Each of the chromosome aneuploidies and the subchromosomal microdeletions/microduplications of PPV were analyzed. Results A total of 534 pregnancies (1.24%) were abnormal results detected by NIPT, and 403 pregnancies had underwent prenatal diagnosis. The positive predictive value (PPV) for trisomy 21(T21), trisomy 18 (T18), trisomy 13 (T13), sex chromosome aneuploidies (SCAs), and other chromosome aneuploidy was 79.23%, 54.84%, 13.79%, 33.04%, and 9.38% respectively. The PPV for CNVs was 28.99%. The PPV for CNVs ≤ 5 Mb is 20.83%, for within 5–10 Mb 50.00%, for > 10 Mb 27.27% respectively. PPVs of NIPT according to pregnancies characteristics are also different. Conclusion Our data have potential significance in demonstrating the usefulness of NIPT profiling not only for common whole chromosome aneuploidies but also for CNVs. However, this newest method is still in its infancy for CNVs. There is still a need for clinical validation studies with accurate detection rates and false positive rates in clinical practice.


2022 ◽  
Vol 11 ◽  
Author(s):  
Yanghua Fan ◽  
Panpan Liu ◽  
Yiping Li ◽  
Feng Liu ◽  
Yu He ◽  
...  

BackgroundAccurate preoperative differentiation of intracranial hemangiopericytoma and angiomatous meningioma can greatly assist operation plan making and prognosis prediction. In this study, a clini-radiomic model combining radiomic and clinical features was used to distinguish intracranial hemangiopericytoma and hemangioma meningioma preoperatively.MethodsA total of 147 patients with intracranial hemangiopericytoma and 73 patients with angiomatous meningioma from the Tiantan Hospital were retrospectively reviewed and randomly assigned to training and validation sets. Radiomic features were extracted from MR images, the elastic net and recursive feature elimination algorithms were applied to select radiomic features for constructing a fusion radiomic model. Subsequently, multivariable logistic regression analysis was used to construct a clinical model, then a clini-radiomic model incorporating the fusion radiomic model and clinical features was constructed for individual predictions. The calibration, discriminating capacity, and clinical usefulness were also evaluated.ResultsSix significant radiomic features were selected to construct a fusion radiomic model that achieved an area under the curve (AUC) value of 0.900 and 0.900 in the training and validation sets, respectively. A clini-radiomic model that incorporated the radiomic model and clinical features was constructed and showed good discrimination and calibration, with an AUC of 0.920 in the training set and 0.910 in the validation set. The analysis of the decision curve showed that the fusion radiomic model and clini-radiomic model were clinically useful.ConclusionsOur clini-radiomic model showed great performance and high sensitivity in the differential diagnosis of intracranial hemangiopericytoma and angiomatous meningioma, and could contribute to non-invasive development of individualized diagnosis and treatment for these patients.


2003 ◽  
Vol 11 (4) ◽  
pp. 269-275 ◽  
Author(s):  
Katsutoshi Yokoi ◽  
Hiroshi Goto ◽  
Jun-ichi Sakai ◽  
Masahiko Usui

2020 ◽  
Vol 38 (4_suppl) ◽  
pp. 217-217
Author(s):  
Elena Brozos ◽  
Ramón Lago ◽  
Marta Covela Rúa ◽  
Ana Fernández Montes ◽  
Juan De la camara ◽  
...  

217 Background: The study of RAS using circulating tumor DNA (ctDNA) provides a good alternative for the detection and monitoring of RAS mutations during therapy course. Liquid biopsy has the advantage of being less invasive than conventional tissue biopsy. Therefore, it is necessary to determine the degree of concordance of RAS status between plasma and tissue samples from mCRC patients. Methods: We conducted a study to evaluate RAS concordance in several hospitals in Galicia, Northwest of Spain. We analyzed samples from 380 patients with mCRC in Galicia. RAS genotyping in plasma was performed using OncoBEAM RAS CRC kit, Sysmex and compared with the PyroMark Q24 System, Qiagen for FFPE-tissue analysis. Clinical data were collected from electronical reports from each patient. We analyzed the clinical features that can be related with discordant cases. Results: The overall percent of agreement was 83%, with a positive concordance of 79% (143/180 patients) and a negative concordance of 87% (116/132 patients). Taking into account the clinical features of the patients, those with only liver metastasis showed a higher level of concordance (88,8%) and the highest level was in the group of patients that presented liver metastasis and another location (91,3%). On the other hand, patients with only peritoneal disease showed the lowest level of agreement (68,2%), and the absence of liver metastasis was a significant factor of discordance of RAS (71% vs 28%, p<0.0001). Conclusions: The high overall concordance between plasma and tissue RAS mutation support the liquid biopsy technology as an alternative to tissue testing for RAS characterization in mCRC patients, especially in patients with liver metastasis and less in those with peritoneal disease. These results reinforce the use of liquid biopsy as a non-invasive tool for guiding targeted therapy in our patients. [Table: see text]


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