Vitreous levels of Lipocalin-2 on patients with primary rhegmatogenous retinal detachment

Purpose To measure vitreous levels of Lipocalin2 (LCN2) in patients with rhegmatogenous retinal detachment (RRD) and investigate potential association with presence of proliferative vitreoretinopathy (PVR). Materials and methods Collection of undiluted vitreous samples from 24 patients suffering from RRD and 10 control patients undergoing vitrectomy for: Vitreomacular traction (VMT) (n = 2), idiopathic epiretinal membrane (iERM) (n = 6) and full thickness macular hole (FTMH) (n = 2). Quantitative analysis of LCN2 has been made with flow cytometry. Lens status, duration of symptoms, quadrants of detachment, as well as level of PVR, were assessed. Statistical analysis included Mann-Whitney test, Kruskal-Wallis test, t-test, Spearman's correlation coefficient and Fisher's exact test. Results Median LCN2 was significantly higher in the RRD group as compared to control (p<0.001). Within the RRD group there was a positive correlation between LCN2 and PVR grade (rs = 0.94, p<0.001). Median LCN2 was 35,759 pg/ml (IR = 55,347) in grade C PVR, 9,387 pg/ml (IR = 3721) in grade B, 4,917 pg/ml (IR = non computable) in grade A and 3,921 pg/ml (2132) in the no PVR group. Median LCN2 was also significantly higher in pseudophakic patients as compared to phakic patients (p = 0.007). LCN2 also correlates with the extend of detachment (≤2 vs >2 quadrants, p<0.001) as well as with duration of symptoms (rs = 0.87, p<0.001). After multivariate linear regression analysis, only PVR was independently related with LCN2 concentration. In particular, increased PVR grading was associated with increased LCN2 concentration (coefficient b = 2.97, 95% confidence interval = 1.89 to 4.67, p<0.001). Conclusion A positive correlation between vitreous levels of LCN2 and PVR grading reveals a potential role in the pathogenesis and progression of PVR. Further studies could elucidate if LCN2 could be a therapeutic target. © 2019 Batsos et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited

Genetic background of osteonecrosis: Associated with thrombophilic mutations?

Intravascular coagulation is considered a major pathogenetic mechanism for nontraumatic osteonecrosis. The aim of our study was to evaluate the association of thrombophilic factor V G1691A mutation (factor V Leiden) and G20210A prothrombin mutation with the disease. Mutation presence was investigated by polymerase chain reaction techniques in a study population of 72 adult Caucasian patients with osteonecrosis of the femoral head and 300 healthy Caucasian control subjects. The disease was considered idiopathic in 23 patients and secondary in 49. The factor V Leiden mutation was present in 18% of patients, compared with 4.6% of control subjects, resulting in a statistically significant odds ratio of 4.5. The prothrombin mutation was not significantly increased in the idiopathic osteonecrosis subgroup (8.7% versus 2.6%) with an odds ratio of 3.5. Overall, either of these coagulation disorders was present in 22.2% of patients and in 7.3% of control subjects resulting in a significant odds ratio of 3.6. Factor V Leiden, a genetic risk factor for venous thrombosis, is associated with nontraumatic osteonecrosis of the femoral head, supporting the hypothesis that intravascular coagulation is a major pathogenetic mechanism of the disease

The 2003 Marshall R. Urist Award Paper - Genetic background of osteonecrosis: Associated with thrombophilic mutations?

Intravascular coagulation is considered a major pathogenetic mechanism for nontraumatic osteonecrosis. The aim of our study was to evaluate the association of thrombophilic factor V G1691A mutation (factor V Leiden) and G20210A prothrombin mutation with the disease. Mutation presence was investigated by polymerase chain reaction techniques in a study population of 72 adult Caucasian patients with osteonecrosis of the femoral head and 300 healthy Caucasian control subjects. The disease was considered idiopathic in 23 patients and secondary in 49. The factor V Leiden mutation was present in 18% of patients, compared with 4.6% of control subjects, resulting in a statistically significant odds ratio of 4.5. The prothrombin mutation was not significantly increased in the idiopathic osteonecrosis subgroup (8.7% versus 2.6%) with an odds ratio of 3.5. Overall, either of these coagulation disorders was present in 22.2% of patients and in 7.3% of control subjects resulting in a significant odds ratio of 3.6. Factor V Leiden, a genetic risk factor for venous thrombosis, is associated with nontraumatic osteonecrosis of the femoral head, supporting the hypothesis that intravascular coagulation disease

Embryonal tumor with abundant neuropil and true rosettes: A systematic literature review and report of 2 new cases

Embryonal tumor with abundant neuropil and true rosettes has been recently defined as a distinct central nervous system embryonal neoplasm, although it was initially regarded as a subtype of central nervous system primitive neuroectodermal tumor. To date 70 cases have been reported. We have performed a literature review and we present 2 new cases. Analysis of the reported data revealed that radiotherapy, tumor excision and high-dose adjuvant chemotherapy with sequential autologous hematopoietic stem cell rescue have a prognostic significance

Development of a three-biosensor panel for the visual detection of thrombophilia-associated mutations

We developed a rapid and low-cost panel of three assays for visual genotyping of the three most common genetic risk factors in thrombophilia, namely, the single-point mutations in the FV (Leiden factor), FII and MTHFR genes. A triplex PCR was developed for simultaneous amplification of three fragments spanning the interrogated loci. Allele discrimination was accomplished by a 5-min primer extension reaction on each locus. Detection of the extension products was performed by means of a dual-allele dipstick-type DNA biosensor. The biosensor is disposable and allows visual detection and confirmation of the genotyping products within 15. min by hybridization without the need for specialized instruments or expensive reagents. The proposed method was evaluated by genotyping 40 samples with a variety of genotypes for all three mutations. The genotyping results were in full concordance with those obtained by restriction fragment length polymorphism analysis and sequencing. © 2010 Elsevier B.V