scholarly journals The Diagnostic Value of Genetic Mutation Analysis and Mutation Profiling of cfDNA in Intraocular Fluid for VRL

2021 ◽  
Author(s):  
Xiaoqing Chen ◽  
Yunwei Hu ◽  
Wenru Su ◽  
Shizhao Yang ◽  
Xiaoxiao Wang ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Training Group ◽  
Diagnostic Value ◽  
Genetic Mutation ◽  
Molecular Characteristics ◽  
Mutation Profile ◽  
Vitreoretinal Lymphoma ◽  
Masquerade Syndrome ◽  
Low Sensitivity ◽  
Intraocular Fluid

Vitreoretinal lymphoma (VRL) is a rare but aggressive masquerade syndrome, which would be easily confused with uveitis. The diagnostic gold standard remains the pathologic examination of ocular specimen with invasiveness and low sensitivity. To improve the safety and accuracy of VRL diagnosis, alternative techniques using intraocular fluid (IOF) samples are emerging. In this study, we aimed to test the diagnostic value of genetic mutation analysis of circulating cell-free DNA (cfDNA) in IOF for VRL and exhibit the mutation profile for revealing the molecular characteristics of VRL. Twenty-three suspected VRL patients were selected as the training group, who had genetic mutation analysis using a panel containing 446 tumor-related genes. Another external cohort including 5 VRL patients and 5 uveitis patients was selected for further validation. In training group, all of VRL patients had obtained 23 (IQR 13.5, 36.0) cfDNA mutations in IOF (sensitivity 100%), and 2 out of 6 uveitis patients had one and four mutations respectively (specificity 67%). The latter were identified as clonal hematopoiesis mutations. In validation group, all of VRL patients were positive and all of uveitis patients were negative for mutation analysis (sensitivity and specificity 100%). VRL patients from the two groups were characterized by the high mutation frequencies of PIM1 (21/22, 90.91%), MYD88 (17/22, 77.27%), CD79B (11/22, 50.00%), ETV6 (11/22, 50.00%) and IRF4 (11/22, 50.00%), and 77.27% were MCD subtype with PI3K-Akt signaling pathway alternation. In conclusion, it demonstrated a new mini-invasive and feasible method for VRL diagnosis using a panel of 466 tumor-related genes.

scholarly journals Comparing the Diagnostic Value of Serum D-Dimer to CRP and IL-6 in the Diagnosis of Chronic Prosthetic Joint Infection

2020 ◽  
Vol 9 (9) ◽  
pp. 2917
Author(s):  
Thomas Ackmann ◽  
Burkhard Möllenbeck ◽  
Georg Gosheger ◽  
Jan Schwarze ◽  
Tom Schmidt-Braekling ◽  
...  
Keyword(s):  
Sensitivity And Specificity ◽  
Joint Infection ◽  
Revision Arthroplasty ◽  
Preoperative Assessment ◽  
Diagnostic Value ◽  
Musculoskeletal Infection ◽  
Prosthetic Joint ◽  
The Individual ◽  
Low Sensitivity ◽  
D Dimer

Introduction: D-dimer is a diagnostic criterion for periprosthetic joint infection (PJI) of the Musculoskeletal Infection Society (MSIS) in 2018. The aim of this study was to evaluate the serum D-dimer values in comparison to C-reactive protein (CRP) and interleukin-6 (IL-6) for the diagnosis of PJI. Materials and Methods: We included 119 patients (50 women, 69 men; 71 knees, 48 hips) undergoing revision arthroplasty with preoperative assessment of CRP, IL-6, and serum D-dimer. Cases were classified as infected or aseptic based on the MSIS criteria of 2018. Receiver operating curves and Youden’s index were used to define an ideal cut-off value and sensitivity and specificity for the individual parameters, and respective combinations were calculated using cross-tables. Results: The median D-dimer level (2320 vs. 1105 ng/mL; p < 0.001), the median CRP level (4.0 vs. 0.5 mg/dL; p < 0.001), and the median IL-6 level (21.0 vs. 5.0 pg/mL; p < 0.001) were significantly higher in the group of PJI compared to the group with aseptic failure. The calculated optimal cut-off values were 2750 ng/mL (AUC 0.767) for D-dimer, 1.2 mg/dL (AUC 0.914) for CRP, and 10.0 pg/mL (AUC 0.849) for IL-6. D-dimer showed a sensitivity of 38% and specificity of 94%, whereas the CRP and IL-6 had sensitivities of 88% and 76%, and specificities of 87% and 92%, respectively. Conclusion: In comparison with CRP and IL-6, serum D-dimer showed low sensitivity and specificity in our cohort. While CRP and IL-6 combination had the highest sensitivity, a combination of Il-6 and D-dimer or CRP and IL-6 had the highest specificity.

Genetic mutation analysis by CE with LIF detection using inverse-flow derivatization of DNA fragments

2006 ◽  
Vol 27 (19) ◽  
pp. 3846-3855 ◽  
Author(s):  
Fuming Sang ◽  
Haixia Ren ◽  
Jicun Ren
Keyword(s):  
Mutation Analysis ◽  
Genetic Mutation ◽  
Dna Fragments

Molecular genetic mutation analysis in patients with Fabry disease

2007 ◽  
Vol 91 ◽  
pp. 120-120
Author(s):  
A László ◽  
E Endreffy ◽  
L Török ◽  
JK Ploos Amstel
Keyword(s):  
Fabry Disease ◽  
Mutation Analysis ◽  
Molecular Genetic ◽  
Genetic Mutation

scholarly journals The Rule of Histology in the Diagnosis of Periprosthetic Infection: Specific Granulocyte Counting Methods and New Immunohistologic Staining Techniques may Increase the Diagnostic Value

2016 ◽  
Vol 10 (1) ◽  
pp. 457-465 ◽  
Author(s):  
Friedrich Boettner ◽  
Gabriele Koehler ◽  
Alexander Wegner ◽  
Tom Schmidt-Braekling ◽  
Georg Gosheger ◽  
...  
Keyword(s):  
Periprosthetic Infection ◽  
High Specificity ◽  
Diagnostic Value ◽  
Lower Sensitivity ◽  
Specific Staining ◽  
Tissue Samples ◽  
Hip And Knee Arthroplasty ◽  
Staining Techniques ◽  
Low Sensitivity ◽  
Intraoperative Test

Objective: The current study investigates the diagnostic accuracy of the criteria described for frozen sections and whether modern leukocyte specific staining techniques including leukocyte peroxidase and Naphtol-AS-D-chloroacetate-esterase will improve the accuracy of the intra-operative histology. Method: 77 patients undergoing revision total hip and knee arthroplasty were included in this retrospective study. Patients were grouped into septic and aseptic based on intraoperative cultures. Tissue samples were analyzed utilizing the Mirra, Feldman, Lonner, Banit and Athanasou criteria. Results: An experienced pathologist had a high specificity (96%), but rather low sensitivity (57%) diagnosing infection. By using the Banit-, Mirra-, or Athanasou-criteria the sensitivity is increased to 0.90. The Feldman- and Lonner-criteria have a lower sensitivity (0.48 and 0.38), however, an increased specificity of 0.96 and 0.98, respectively. The Banit cut off has the highest accuracy (86%). MPOX and NACE staining increased the sensitivity and accuracy up to 100% and 92% respectively. Conclusion: Banit’s cut off is the most accurate histologic criteria to diagnose infection. Modern leukocyte specific staining techniques slightly improve the accuracy. The synovial fluid white blood cell count appears to be the most accurate intraoperative test.

A Case of Crigler-Najjar Syndrome Type 2 Diagnosed Using Genetic Mutation Analysis

2008 ◽  
Vol 11 (2) ◽  
pp. 219 ◽  
Author(s):  
Sang Yee Kim ◽  
Soo Hyun Lee ◽  
Hong Koh ◽  
Seung Tae Lee ◽  
Chang Seok Ki ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Genetic Mutation ◽  
Syndrome Type

Prospective evaluation of the diagnostic value of sensitive KIT D816V mutation analysis of blood in adults with suspected systemic mastocytosis

Allergy ◽  
2017 ◽  
Vol 72 (11) ◽  
pp. 1737-1743 ◽  
Author(s):  
T. Kristensen ◽  
H. Vestergaard ◽  
C. Bindslev-Jensen ◽  
C. G. Mortz ◽  
H. F. Kjaer ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Systemic Mastocytosis ◽  
Diagnostic Value ◽  
Prospective Evaluation ◽  
Kit D816v

scholarly journals Early chest computed tomography to diagnose COVID-19 from suspected patients: A multicenter retrospective study

2020 ◽  
Author(s):  
Congliang Miao ◽  
Mengdi Jin ◽  
Li Miao ◽  
Xinying Yang ◽  
Peng Huang ◽  
...  
Keyword(s):  
Ground Glass Opacity ◽  
High Specificity ◽  
Diagnostic Value ◽  
Chest Ct ◽  
Imaging Features ◽  
Rt Pcr ◽  
Polymerase Chain ◽  
Low Sensitivity ◽  
Chest Ct Scan ◽  
Ct Features

AbstractObjectiveThe purpose of this study is to distinguish the imaging features of COVID-19 with other chest infectious diseases and evaluate diagnostic value of chest CT for suspected patients.MethodsAdult suspected patients aged>18 years within 14 days who underwent chest CT scan and reverse-transcription polymerase-chain-reaction (RT-PCR) tests were enrolled. The enrolled patients were confirmed and grouped according to results of RT-PCR tests. The data of basic demographics, single chest CT features, and combined chest CT features were analyzed for confirmed and non-confirmed groups.ResultsA total of 130 patients were enrolled with 54 cases positive and 76 cases negative. The typical CT imaging features of positive group were ground glass opacity (GGO), crazy-paving pattern and air bronchogram. The lesions were mostly distributed bilaterally, close to the lower lungs or the pleura. When features combined, GGO with bilateral pulmonary distribution and GGO with pleural distribution were more common, of which were 31 cases (57.4%) and 30 cases (55.6%) respectively. The combinations were almost presented statistically significant (P<0.05) except for the combination of GGO with consolidation. Most combinations presented relatively low sensitivity but extremely high specificity. The average specificity of these combinations is around 90%.ConclusionsThe combinations of GGO could be useful in the identification and differential diagnosis of COVID-19, which alerts clinicians to isolate patients for treatment promptly and repeat RT-PCR tests until incubation ends.

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