10 research outputs found
Novel P.Asp304gly mutation in best1 gene associated with atypical best vitelliform macular dystrophy phenotype and high intrafamilial variability
Purpose: To report the atypical phenotypic characteristics of patients with a novel p.Asp304Gly mutation in BEST1. Methods: Affected individuals underwent a complete ophthalmic examination, including best-corrected visual acuity, fundus autofluorescence, spectral domain optical coherence tomography, and electrophysiologic testing. All individuals were screened for mutations in the BEST1 gene. Results: Five patients of the same Italian family were clinically examined. All patients complained of decreased vision as the initial symptom. Best-corrected visual acuity ranged from 20/800 to 20/32. On fundus examination, all patients showed atypical Best vitelliform macular dystrophy phenotype with multifocal macular and extramacular involvement. The spectral domain optical coherence tomography characteristics of central macular and extramacular lesions varied in each patient and included "giant" choroidal excavation, extensive flat macular elevation with hyporeflective subretinal material accumulation surrounded by hyperautofluorescent spots/annulus, and extensive hypoautofluorescent extramacular atrophic areas. Electrooculogram was always abnormal with Arden ratio lower than 1.55, whereas electroretinogram was normal in the two younger patients and abnormal (low amplitude) in the three older patients. Genetic analysis revealed a novel missense mutation in BEST1, substituting aspartate for glycine at amino acid 304. Conclusion: We describe the atypical phenotype and high intrafamilial variability associated with a new mutation in the BEST1 gene in an Italian family affected with Best vitelliform macular dystrophy. Clinicians should consider screening the BEST1 gene even in the absence of the typical phenotype and in case of high intrafamilial variability
Duodenocaval Fistula in a Patient with Inferior Vena Cava Leiomyosarcoma Treated by Surgical Resection and Caval Polytetrafluoroethylene Prosthesis
Inferior vena cava (IVC) leiomyosarcoma represents an extremely rare disease that commonly involves the segment between the inflow of the renal veins and the inflow of the hepatic veins (46% of cases). We report the case of a patient affected by an IVC leiomyosarcoma, treated with surgical resection, caval reconstruction with polytetrafluoroethylene (PTFE), and right nephrectomy, followed by external beam radiotherapy. Oncological follow-up was negative for 17 years after this combined treatment, since the patient developed a duodenocaval fistula (DCF)
Dynamic Contrast-Enhanced MR with Quantitative Perfusion Analysis of Small Bowel in Vascular Assessment between Inflammatory and Fibrotic Lesions in Crohnʼs Disease: A Feasibility Study
Aim. To assess the feasibility of dynamic contrast-enhanced perfusion-MRI in characterization of active small-bowel inflammation and chronic mural fibrosis in patients with Crohnʼs disease (CD). Methods. We analyzed a total of 37 (11 women; 23–69 years) patients with known biopsy proven CD, who underwent MR-enterography (MRE) study, performed on a 1.5 T MRI system (Achieva, Philips), using a phased array sense body multicoil, after oral administration of 1.5–2 L of PEG solution. MRE protocol included T1 weighted, SSh T2, sBTFE, and gadolinium-enhanced THRIVE sequences acquired on coronal and axial planes. A dedicated workstation was used to generate perfusion color maps, on which we drown ROI on normal bowel and on pathological segment, thus obtaining related perfusion parameters: relative arterial, venous, and late enhancement (RAE, RVE, and RLE), maximum enhancement (ME), and time to peak (TTP). Results. Quantitative perfusion analysis showed a good correlation with local degree of Crohn’s inflammation activity. Twenty-nine out of 37 patients showed active inflammatory disease (reference standard of active disease: wall bowel thickness and layered enhancement) with following perfusion parameters: REA (%) = 116.1, RVE (%) = 125.3, RLE (%) = 127.1, ME (%) = 1054.7, TTP (sec) = 157. The same parameters calculated in patients with mural fibrosis were as follows: RAE (%): median = 56.4; RVE (%): 81.2; RLE (%): 85.4; ME (%):809.6; TTP (sec): 203.4. A significant difference (p<0.001) between inflamed and fibrotic bowel wall vascularity, regarding all perfusion parameters evaluated, was found, with higher values in active CD localizations. Conclusion. Vascular assessment of perfusion kinetics of bowel wall by dynamic contrast perfusion-MR analysis may represent a complementary diagnostic tool that enables a quantitative evaluation of local inflammation activity in CD patients
Dynamic Contrast-Enhanced MR with Quantitative Perfusion Analysis of Small Bowel in Vascular Assessment between Inflammatory and Fibrotic Lesions in Crohnʼs Disease: A Feasibility Study
Drug-eluting Stent Patency at 6 Months in the Pedal Artery of a Patient with Polyarteritis Nodosa: A Case Report
Dynamic Computed Tomography Perfusion Imaging: Complementary Diagnostic Tool in Hepatocellular Carcinoma Assessment From Diagnosis to Treatment Follow-up
Choroidal Anatomic Alterations After Photodynamic Therapy for Chronic Central Serous Chorioretinopathy: A Multicenter Study
Effect of COVID-19-related lockdown on ophthalmic practice in Italy: A report from 39 institutional centers
BACKGROUND/OBJECTIVES: To compare the number of eye surgical procedures performed in Italy in the 2months following the beginning of lockdown (study period) because of COVID-19 epidemic with those performed in the two earlier months of the same year (intra-year control) and in the period of 2019 corresponding to the lockdown (inter-year control).METHODS: Retrospective analysis of surgical procedures carried out at 39 Academic hospitals. A distinction was made between elective and urgent procedures. Intravitreal injections were also considered. Percentages for all surgical procedures and incidence rate ratios (IRR) for rhegmatogenous retinal detachment (RRD) events were calculated. A p value <0.05 was considered significant.RESULTS: A total of 20,886 versus 55,259 and 56,640 patients underwent surgery during the lockdown versus intra-and inter-year control periods, respectively. During the lockdown, only 70% of patients for whom an operation/intravitreal injection was recommended, finally underwent surgery; the remaining patients did not attend because afraid of getting infected at the hospital (23%), taking public transportation (6.5%), or unavailable swabs (0.5%). Elective surgeries were reduced by 96.2% and 96.4%, urgent surgeries by 49.7% and 50.2%, and intravitreal injections by 48.5% and 48.6% in the lockdown period in comparison to intra-year and inter-year control periods, respectively. IRRs for RRDs during lockdown dropped significantly in comparison with intra- and inter-year control periods (CI: 0.65-0.80 and 0.61-0.75, respectively, p<0.001 for both).CONCLUSION: This study provides a quantitative analysis of the reduction of eye surgical procedures performed in Italy because of the COVID-19 epidemic
Effect of COVID-19-related lockdown on ophthalmic practice in Italy: A report from 39 institutional centers
BACKGROUND/OBJECTIVES: To compare the number of eye surgical procedures performed in Italy in the 2months following the beginning of lockdown (study period) because of COVID-19 epidemic with those performed in the two earlier months of the same year (intra-year control) and in the period of 2019 corresponding to the lockdown (inter-year control).METHODS: Retrospective analysis of surgical procedures carried out at 39 Academic hospitals. A distinction was made between elective and urgent procedures. Intravitreal injections were also considered. Percentages for all surgical procedures and incidence rate ratios (IRR) for rhegmatogenous retinal detachment (RRD) events were calculated. A p value <0.05 was considered significant.RESULTS: A total of 20,886 versus 55,259 and 56,640 patients underwent surgery during the lockdown versus intra-and inter-year control periods, respectively. During the lockdown, only 70% of patients for whom an operation/intravitreal injection was recommended, finally underwent surgery; the remaining patients did not attend because afraid of getting infected at the hospital (23%), taking public transportation (6.5%), or unavailable swabs (0.5%). Elective surgeries were reduced by 96.2% and 96.4%, urgent surgeries by 49.7% and 50.2%, and intravitreal injections by 48.5% and 48.6% in the lockdown period in comparison to intra-year and inter-year control periods, respectively. IRRs for RRDs during lockdown dropped significantly in comparison with intra- and inter-year control periods (CI: 0.65-0.80 and 0.61-0.75, respectively, p<0.001 for both).CONCLUSION: This study provides a quantitative analysis of the reduction of eye surgical procedures performed in Italy because of the COVID-19 epidemic