Retina and Omega-3

Over the last decade, several epidemiological studies based on food frequency questionnaires suggest that omega-3 polyunsaturated fatty acids could have a protective role in reducing the onset and progression of retinal diseases. The retina has a high concentration of omega-3, particularly DHA, which optimizes fluidity of photoreceptor membranes, retinal integrity, and visual function. Furthermore, many studies demonstrated that DHA has a protective, for example antiapoptotic, role in the retina. From a nutritional point of view, it is known that western populations, particularly aged individuals, have a higher than optimal omega-6/omega-3 ratio and should enrich their diet with more fish consumption or have DHA supplementation. This paper underscores the potential beneficial effect of omega-3 fatty acids on retinal diseases

Intravitreal triamcinolone, bevacizumab and pegaptanib for occult choroidal neovascularization.

PURPOSE: To evaluate best-corrected visual acuity (BCVA) and foveal thickness (FT) changes in occult subfoveal choroidal neovascularization (CNV) from age-related macular degeneration (AMD) after intravitreal bevacizumab (IVB, 1.25 mg/0.05 ml), pegaptanib (IVP, 0.3 mg/0.09 ml) and triamcinolone acetonide (IVTA, 4 mg/0.1 ml) injected on an as needed basis. METHODS:   Retrospective, interventional, comparative study. BCVA (Early Treatment Diabetic Retinopathy Study LogMAR) and FT by optical coherence tomography (OCT) were evaluated during 12 months from first treatment. Patients were retreated if signs of neovascular activity were still present on angiography or OCT. RESULTS: Forty-eight eyes received IVB, 43 eyes received IVP, 52 eyes received IVTA. BCVA and FT at baseline were 1.22 ± 0.49 LogMAR and 410.2 ± 41.83 μm in the IVB group, 1.25 ± 0.43 LogMAR and 452.3 ± 44.83 μm in the IVP group and 1.31 ± 0.4 LogMAR and 456.6 ± 48.27 μm in the IVTA group. BCVA and FT improved in the three groups during follow-up. A significantly greater improvement of BCVA was present at month-3, month-6 and at month-12 in the IVB and IVP groups (p = 0.01). Improvement of FT was greater in the IVTA group at month-3 (p = 0.02), while it was greater in the anti-Vascular Endothelial Growth Factor (VEGF) groups at month-6 and month-12 (p = 0.01). A postoperative increase of intraocular pressure was detected in 9/52 (17.3%) eyes treated with IVTA, and in two cases it was resistant to topical therapy. CONCLUSION:   Intravitreal injection of anti-VEGF drugs administered on an as needed basis for AMD-related occult CNVs provided functional and anatomic improvement during 12 months of follow-up

Clinical implications of discordant early molecular responses in CML patients treated with imatinib

A reduction in BCR-ABL1/ABL1IS transcript levels to <10% after 3 months or <1% after 6 months of tyrosine kinase inhibitor therapy are associated with superior clinical outcomes in chronic myeloid leukemia (CML) patients. In this study, we investigated the reliability of multiple BCR-ABL1 thresholds in predicting treatment outcomes for 184 subjects diagnosed with CML and treated with standard-dose imatinib mesylate (IM). With a median follow-up of 61 months, patients with concordant BCR-ABL1/ABL1IS transcripts below the defined thresholds (10% at 3 months and 1% at 6 months) displayed significantly superior rates of event-free survival (86.1% vs. 26.6%) and deep molecular response (≥ MR4; 71.5% vs. 16.1%) compared to individuals with BCR-ABL1/ABL1IS levels above these defined thresholds. We then analyzed the outcomes of subjects displaying discordant molecular transcripts at 3-and 6-month time points. Among these patients, those with BCR-ABL1/ABL1IS values >10% at 3 months but <1% at 6 months fared significantly better than individuals with BCR-ABL1/ABL1IS <10% at 3 months but >1% at 6 months (event-free survival 68.2% vs. 32.7%; p < 0.001). Likewise, subjects with BCR-ABL1/ABL1IS at 3 months >10% but <1% at 6 months showed a higher cumulative incidence of MR4 compared to patients with BCR-ABL1/ABL1IS <10% at 3 months but >1% at 6 months (75% vs. 18.2%; p < 0.001). Finally, lower BCR-ABL1/GUSIS transcripts at diagnosis were associated with BCR-ABL1/ABL1IS values <1% at 6 months (p < 0.001). Our data suggest that when assessing early molecular responses to therapy, the 6-month BCR-ABL1/ABL1IS level displays a superior prognostic value compared to the 3-month measurement in patients with discordant oncogenic transcripts at these two pivotal time points

Analysis of the role of elution buffers on the separation capabilities of dielectrophoretic devices

Field flow fractionation dielectrophoretic (FFF-DEP) devices are currently used, among the others, for the separation of tumor cells from healthy blood cells. To this end specific suspension/elution buffers (EBs), with reduced conductivity (with respect to that of the cell cytoplasm) are generally used. In this paper we investigate the long-term alterations of the cells and elution buffers. We find that the EB conductivity is critically modified within few minutes after cells suspension. In turn, this modification results in a change the ideal separation frequency of the FFF-DEP device. On the other hand we prove that DEP manipulation is preserved for more than three hours for cells suspended in the considered EBs. Keywords: Dielectrophoresis, Elution buffer, Circulating tumor cells, Cell motilit

Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss

Sensorineural hearing impairment is a common pathological manifestation in patients affected by X-linked intellectual disability. A few cases of interstitial deletions at Xq21 with several different phenotypic characteristics have been described, but to date, a complete molecular characterization of the deletions harboring disease-causing genes is still missing. Thus, the aim of this study is to realize a detailed clinical and molecular analysis of a family affected by syndromic X-linked hearing loss with intellectual disability

Trattamento del melanoma coroideale con termoterapia transpupillare

Introduzione. Il melanoma maligno dell’uvea è la neoplasia primitiva intraoculare più frequente nell’età adulta. Rappresenta, infatti, circa il 90% dei tumori oculari. Metodi. Valutazione retrospettiva degli effetti del trattamento conservativo con termoterapia transpupillare sul melanoma coroideale. Risultati. Dopo un follow-up medio di 42 (3-66) mesi, abbiamo osservato una riduzione del diametro della lesione di 4.0 ± 0.6 mm (3.4-4.6mm), una riduzione dello spessore della lesione di 2.3 ± 0.3 mm (2-2.6mm), ed una riduzione del volume di 28.7 ± 71.5mm3 (p=0.001). La riduzione del volume non era correlata con la potenza del trattamento (Pearson’s rho=-0.17). In 14 casi è stato necessario eseguire un secondo trattamento con TTT. Un coinvolgimento maculare si è verificato in 44 casi. L’acuità visva media pre-TTT era di 0.3 (1.1-0) ETDRS logMar. Dopo il trattamento l’acuità visiva media risultava 0.4 (1.1-0) ETDRS logMar. Un miglioramento di acuità visiva si è osservato dopo trattamento in 5/44 (11.3%) casi, una riduzione in 12/44 (27.2%) casi, un quadro invariato in 34 (77.2%) casi. In 6/44 casi presentanti edema maculare e riduzione del visus abbiamo proceduto ad un’iniezione intravitreale di triamcinolone. A 6 mesi abbiamo osservato un tasso di miglioramento del 100%, che tuttavia si riduceva al 60% a 12 mesi. Conclusioni. Il trattamento dei melanomi della coroide con termoterapia transpupillare assicura dei risultati visivi che sembrano equivalenti ai risultati ottenuti con la radioterapia. Considerando i casi riportati di necessità di ritrattamento la TTT andrebbe considerata come terapeutico adiuvante in associazione alla terapia radiante