bluuebunny/crossref_metadata_2025_split huggingface dataset:
AML with bilateral retinal detachment
Authors: SARKADY E , JONES NP , BONSHEK RE 
Published: October 2007

Abstract Purpose: To present a case of thrombotic ocular and CNS involvement complicating acute myeloid leukaemia (AML). Methods: A 42 year old woman developed blurred vision shortly after diagnosis and treatment of M6 AML. Investigations showed anterior orbital infiltration, retinal detachment and panuveitis. Iris biopsy and vitreous aspirate were negative. She developed right temporal lobe infarction and died following further CNS infarction two months after initial diagnosis. Results: Post mortem examination showed cerebral oedema, multiple cerebral infarctions and hepatosplenomegaly; both eyes contained vitreous exudates, retinal detachment and uveal thickening. Microscopy showed exudative and haemorrhagic retinal detachment, without inflammatory or neoplastic infiltrate, and bilateral uveal leukaemic infiltration with infarction. Neoplastic cells infiltrated the leptomeninges and brain parenchyma with focal vascular occlusion. Lung vessels were occluded by neoplastic cells. The spleen and bone marrow were heavily infiltrated. Partial immunophenotyping suggested a diagnosis of acute promyelocytic leukaemia (APL). Conclusions: Acute leukaemia involves the eye occurs in 39‐53% cases. Visual loss is uncommon. Retinal involvement most frequently occurs in the form of superficial haemorrhages, detachment is uncommon. Acute lymphoblastic leukaemia (ALL) treated with L‐asparaginase, acute promyelocytic leukaemia (APL) and non‐M3 AML may present with a prothrombotic state which may be catastrophic, as occurred in this fatal case.
Immune expression and inhibition of HSP90 in uveal melanoma
Authors: FAINGOLD D , MARSHALL JC , ANTECKA E , DI CESARE S , BAKALIAN S , BURNIER MN 
Published: October 2007

Abstract Purpose: To examine the immunohistochemical profile of Hsp90 in uveal melanoma and the effects of Hsp90 inhibitor 17‐AAG, in uveal melanoma cell lines. Methods: Hsp90 expression was studied in 44 sections of human uveal melanoma and in five uveal melanoma cell lines (92.1, OCM‐1, MKTBR, SP6.5 and UW‐1). Sulfurhodamine‐B based proliferation assay was assessed with a range of concentrations of 17‐AAG. Changes in cell migration and invasion were evaluated in vitro in the presence or absence of 17‐AAG. Cell cycle fractions were determined by flow cytometry and the caspase 3 protease activity was detected using the BD ApoAlertTM Caspase Colorimetric Assay. Expression of intracellular proteins was determined by Western blot analysis. Results: Immunohistochemical expression of Hsp90 was identified in 68 % of the paraffin embedded sections and was significantly associated with largest tumor dimension. A statistically significant reduction on proliferation rate of uveal melanoma cell lines was observed with drug concentrations of 100 μM to 1 μM and also a reduction of their migratory and invasive capabilities. Exposure to 17‐AAG induced accumulations of cells in G1 and loss of cells in S phase and also a significant increase in Caspase 3 protease activity. The cytotoxic effect of 17‐AAG was associated with decreased levels of phospho‐AKT after 24 h exposure to the drug. Conclusions: The immunohistochemical expression of Hsp90 in uveal melanoma indicates worse prognosis. Inhibition of HSP90 function by 17‐AAG had an effect on cell motility and invasive potential, inducing cell cycle arrest and promoting apoptosis. Further trials in uveal melanoma models should be undertaken to study the effect of 17 AAG to target Hsp90 in vivo.
Identification of a novel VMD2 mutation in Slovene family with best vitelliform dystrophy
Authors: JARC‐VIDMAR M , SLAJPAH M , POPOVIC P , GLAVAC D , HAWLINA M 
Published: October 2007

Abstract Purpose: To report a clinical phenotype and a novel VMD2 gene mutation in a Slovene family with Best vitelliform dystrophy. Methods: Father (51 yrs, VA: 0,1 ou) and his two sons (21 yrs, VA: 1,0 RE, 0,001LE; and 17 yrs, VA: 0,6 RE, 0,2 LE) with abnormal EOG and clinical features of Best distrophy were tested with static perimetry, pattern ERG and multifocal electroretinography. Autofluorescence imaging of the fundus was done by HRA. Screening for mutation was done by the non‐isotopic high resolution single stranded conformation analysis (SSCA) after amplification of each exon by the polymerase chain reaction (PCR). Primers for VMD2 were described by Petrukhin. Results: A new mutation was found with G to C substitution at position 147 in VMD2 gene, altering nonpolar glycine to a bigger and positively charged arginine at codon 15. The change altered electric balance of the mutated protein. Four other changes in these family were observed as well (P341P, T470T, T536T, S519S), but have already been described by other groups and presumably did not alter the predicted amino acid sequence of bestrophin protein. AF imaging showed different patterns in each patient according to the stage of disease ‐ central hiperfluorescent lesions in early stages and central hypofluorescent regions being surrounded with hyperfluorescent rings in later stages of the disease. Electrophysiology testing showed reduction of pattern P50 and N95 amplitudes in those with lower VA. Reduction of P1 amplitude of mfERG was mostly observed in the inner three concentric rings already in the early stages of disease. Conclusions: A novel disease‐causing mutation (G15R) was found in the exon 2 in VMD2 gene in a Slovene family with BVD.
Peculiarities of pupil reactions in patients with hyperopic amblyopia in dependence of monocular fixation
Authors: BUSHUYEVA NN , BOYCHUK IM , KHRAMENKO NI , SHAKIR DUHIRE MH 
Published: October 2007

Abstract Purpose: Data of pupil reactions in patients with amblyopia revealed disturbances in pupillary afferent pathway in 9% ‐ 93% cases (Tychsen L., Hoyt W.F.,1985, Portnoy JZ, & al.,1983). and disorders of peripheral parts of retina in amblyopic eyes. The aim of the work was to study pupil reactions in patients with hyperopic amblyopia in dependence of monocular fixation and in comparison with emmetropic patients. Methods: Pupil reactions (direct, sequence and accommodative) in patients with hyperopic amblyopia were studied with elaborated pupillograph in 72 children aged 5‐14 years old (50 with amblyopia and 22 with emmetropia). Amblyopia of high degree was in 22% of patients, medium and light degree was in 14% and 64% accordingly. Degree of hyperopia in both eyes was (2,14 ±0,49)dptr, astigmatism was below 2,0 dptr. Central fixation was in 27 and eccentric in 23 cases. Results: It was established that values of pupil latency recovery after direct flash stimulation were larger than in healthy person, values of active constriction latencies, term of active constriction and recovery latencies during the consequent pupil reaction were different in healthy and amblyopic eyes and degree depends on monocular fixation of amblyopic eye in comparison with healthy persons who had equal values. During accommodative reaction average maximal pupil area values and term of pupil recovery were larger in amblyopic eyes than in eyes of healthy patients, the largest were in cases with eccentric fixation. Conclusions: It is suggested that not only afferent pupil way function is disturbed as it was known before but also the efferent ways are involved in amblyopia especially in cases with eccentric fixation.
Risk factors for age related maculopathy in a Tunisian population
Authors: EL MATRI L , BOURAOUI R , BAKLOUTI K 
Published: October 2007

Abstract Purpose: The aim of this study is to identify risk factors for AMD in the Tunisian population which is exposed to intense sunlight and have important seafood diet. Methods: A prospective study was conducted including 2204 persons aged more than 50 years which came to our hospital as patient or as accompanying adult. Patients responded to a questionnaire asking about medical history, habits and behaviour, sun exposure, diet and smoking habits. A complete ophthalmic examination was undertaken in patients with AMD.The median age of patients was 66 ± 9.5 years old (range 50‐100). Lesions are classified in early and late stages of AMD. Statistical analysis was done. Results: Prevalence of AMD in our studied population was 16.4 %. Age was a significant risk factor. Prevalence of AMD was 12.5% in group patient aged between 50 and 60 years and 31% in group patient aged more than 80 years (P=0.001). Males were more exposed to AMD than females (p=0,001).Excessive sun exposure, lack of nutrients and antioxidants increased significantly the risk of AMD (P<10‐3). Smoking was the most important risk factor (P< 10‐3) and prevalence increased proportionally to the importance of cumulated annual consummation. Cardiovascular diseases, diabetes and dyslipimia were not significantly associated to a high prevalence of AMD. Cataract extraction did not increase the risk of AMD in our study and myopia was associated to a low risk of AMD. Conclusions: AMD is a multifactoriel disease. Some preventive measure were effectives. Genetics’ studies of the disease could identify population at risk.
Structure‐function relationship in the process of primary open‐angle glaucoma ‐ an OCT study
Authors: AJTONY CS , BALLA ZS , KOVACS B 
Published: October 2007

Abstract Purpose: To evaluate the strength and pattern of the relationship between visual field (VF) sensitivity and retinal nerve fiber layer (RNFL) thickness as measured by StratusOCT, and define the structural decay where glaucomatous VF defects appear. Methods: Normal, preperimetric (PPG) and glaucomatous (POAG) subjects were enrolled in this cross‐sectional study. Linear and non‐linear regression models were used to define the relationship between average RNFL thickness (AVG) and VF sensitivity (mean deviation‐MD and mean sensitivity‐MS) on standard automated perimetry, coefficient of determination (R2) was calculated, their association was described by bivariate Pearson correlation. Results: The correlation of AVG and MD/MS was significant only in POAG eyes (r 0.718/0.733), their relationship fit a curvilinear regression model (R2 0.723/0.694), in normal and PPG groups no correlation and a minimal degree of determination was detected. Receiver operating characteristic (ROC) curves describing the ability of all VF parameters and AVG were evaluated to differenciate PPG from POAG eyes. Repeated analysis with the best performing test parameter, PSD (AUROC=0.937) with cutoff value 1.9dB, showed that regression profiles only in the POAG group with PSD >1.9 dB maintained their strong curvilinear RNFL/VF relationship. Conclusions: Evaluating structure/function relationship in our normal, PPG and POAG subjects, strong curvilinear regression was found in POAG eyes with PSD >1.9 dB and RNFL AVG thickness below 70 μm, which might represent a profound threshold value in glaucomatous structural changes, while no correlation was detectable above these values. This is comparable with histologic data, indicating that 25‐40% of RNFL is lost before VF defects arise.
Development of lentiviral vectors for gene therapy for Usher syndrome type 1B
Authors: HASHIMOTO T , GROISBERG R , ZHANG XM , GIBBS D , LILLO C , AZARIAN SM , WILLIAMS DS , YANG XJ 
Published: October 2007

Abstract Purpose: Usher 1B, one of the major subtypes of a combined blindness and deafness disease, is caused by mutations in the MYO7A gene, which encodes a large unconventional myosin expressed in the retinal pigment epithelium (RPE) and photoreceptor (PR) cells. This study aims at developing viral vectors expressing the wild type human MYO7A at an adequate level in order to rescue cellular phenotypes of MYO7A mutation. Methods: The full‐length (7 kb) human MYO7A cDNA was cloned into the third generation, self‐inactivating lentiviral vector under different promoters and enhancers. Human genomic 4‐kb DNA fragment including exon 1 through 2 was cloned by PCR. Activities of different promoters and enhancers were tested by reporter assays using ARPE‐19 cells. Previously identified Myo7a‐null phenotypes in shaker‐1 mouse were used to test the efficacy of various lentiviruses. Results: Lentiviral vectors could successfully transduce large genes (up to 7.6 kb) in vitro and in vivo for the purpose of gene therapy. Reporter assay indicated that regions with a suppressor activity and an enhancer activity existed within intron 1. The CMV promoter drove excessive MYO7A expression in the RPE, and thus caused cell death. A chimeric promoter that consists of partial CMV promoter with 160‐bp MYO7A enhancer could direct moderate levels of gene expression in RPE and PR in vivo, and rescued a number of phenotypes in the mutant mice. Conclusions: These results illustrate the importance of regulating transgene expression levels in achieving therapeutic outcomes. They demonstrate the efficacy of lentivirus‐mediated expression of the large MYO7A cDNA as a gene therapy strategy for correcting the MYO7A deficiency underlying Usher 1B.
The analysis of fundus autofluorescence patterns in retinal diseases
Authors: POPOVIC P , JARC ‐ VIDMAR M , HAWLINA M 
Published: October 2007

Abstract Purpose: Fundus autofluorescence (AF) imaging is a method that shows accumulation of lipofuscin in the retinal pigment epithelium cells in vivo. Fundus AF may be recorded in retinal diseases either by scanning laser ophthalmoscope or by fundus camera using the appropriate filter. The aim of this study was to analyze the AF pattern by both methods. Methods: 20 patients with different retinal diseases including retinitis pigmentosa, cone‐rod dystrophy, Stargardt disease, Best macular dystrophy, central serous retinopathy and age‐related macular degeneration were included in the study. AF images were obtained from each subject using a confocal scanning laser ophthalmosope and digital fundus camera. The distribution and amount of AF were compared by the use of both systems. Results: In all disease entities both instruments showed distinct pattern of AF typical for the disease. Areas of high intensity of AF recorded with HRA matched to areas of increased intensity of AF detected with fundus camera. The distribution of areas of low or absent AF also corresponded well in both systems. Images taken with conventional fundus camera were in general lower contrasted and therefore less sharp. This was particularly true for patients with even mild media opacity. The advantage of fundus camera was however a recording of AF of a greater field of view. Conclusions: AF imaging is a very useful noninvasive method for detecting RPE abnormalities. In clinical practice, when scanning laser ophthalmoscope for recording of AF is not available, conventional digital fundus camera can be used for screening of patients suspected to have retinal disease. Care should be taken in patients with nuclear cataract, as the AF image is influenced by the AF of the crystalline lens by a great amount.
Is nonadherence with eye drop treatment associated with increased intra ocular pressure?
Authors: VANDENBROECK S , DOBBELS F , DE GEEST S , STALMANS I , ZEYEN T 
Published: October 2007

Abstract Purpose: Effectiveness of clinical glaucoma treatment may be dependent on the patient’s adherence (A) with eye drop treatment. The relation between non‐adherence (NA) and intraocular pressure (IOP) is not yet well understood, due to methodological weaknesses in the studies performed so far. The goal of this study was to investigate the association between NA with eye drop treatment, IOP and degree of visual field (VF) defects in a large sample of glaucoma patients. Methods: A multi‐center cross‐sectional survey was performed in 973 patients in 60 ophthalmologic centers in Belgium. NA was assessed by a written self‐report question asking patients how many times he/she had forgotten to administer eye drops during the past 2 weeks. Answer options ranged from never, seldom, once a week to daily. The patients indicating they had skipped 1 or more administrations were classified as NA. Current IOP (mmHg) and VF defects were measured with a Goldmann applanation tonometer and perimeter, respectively, at the same time as the NA assessment. Results: 603 out of 937 (64%) questionnaires were available for analysis. 39.5% of the patients reported to be NA. NA patients showed a significant higher current IOP of the left eye than A patients (16.12 +/‐ 3.15 vs 15.58 +/‐ 2.83; p=0.030). No significant difference in IOP of the right eye was found between NA and A patients (16.13 +/‐ 3.53 vs 16.02 +/‐ 7.61; p=0.843). The degree of visual field defects was not significantly related to NA. Conclusions: Because of the difference in IOP of the left eye between A and NA patients, NA should be carefully monitored as part of glaucoma management. Yet, prospective studies are needed to confirm the relationship between NA and poor outcomes.
Association of single nucleotide polymorphisms (SNPs) of VEGF gene with diabetic retinopathy
Authors: LIINAMAA MJ 
Published: October 2007

Abstract Purpose: Vascular endothelial growth factor (VEGF) has an important role in the development of diabetic retinopathy. High concentration of vitreous VEGF and elevated VEGF expression has been found in diabetic retinopathy. Single nucleotide polymorphisms (SNPs) of VEGF gene have been shown to influence expression of VEGF. We studied the association of VEGF SNPs with severity of diabetic retinopathy. Methods: The study population consisted of 129 diabetic (type 1 or type 2) patients with laser‐treated retinopathy, 99 diabetic patients with mild or no retinopathy and 524 non‐diabetic controls. SNPs were chosen on structural basis at three different haploblocks of the VEGF gene covering the whole VEGF gene and in addition, polymorphisms previously known to affect VEGF production were selected. VEGF SNPs rs699947, rs2010963, rs2146323, rs3025033 and rs3025039 were genotyped using the 5' nuclease assay for allelic discrimination (TaqMan). The allele and genotype frequencies were analyzed with chi‐square test in SPSS. Results: Duration of diabetes was similar in patients with laser‐treated retinopathy and in patients with mild or no retinopathy (mean 22.8 vs. 22.7 years, respectively), but the laser‐treated diabetic group had somewhat poorer glycemic control (9.2 vs. 8.4 %). The distribution of genotypes and the allele frequencies did not differ significantly between the diabetics and controls, between patients with laser‐treated retinopathy and patients with mild or no retinopathy, or between patients with proliferative retinopathy and patients with non‐proliferative retinopathy. Conclusions: In conclusion, these findings suggest that VEGF gene SNPs studied are not associated with the severity of diabetic retinopathy.
Quality assurance in episcleral brachytherapy
Authors: DE FRUTOS‐BARAJA JM , SAORNIL MA , GARCIA‐ALVAREZ C , RUIZ‐BUENO A , CEBALLOS‐GARCIA A , MUINOS Y , LOPEZ‐LARA F 
Published: October 2007

Abstract Purpose: The treatment of choroidal melanoma and other ocular tumors can be approached by means of epiescleral brachytherapy. The process involves several specialiced professionals, different methods to obtain measurements (radioactive sources, tumor) and a complex process to apply every treatment. A program of quality assurance would minimize the possibility of inaccuracy and would optimize the information flow. The purpose of this work is to establish a flow chart that guarantees the information efficiency and a protocol for episcleral brachytherapy. Methods: The flow chart of the process is elaborated, explaining each of the points of information, delimiting responsibilities and fixing period of performance identifying the most important steps for coordination Results: The scheme of the process flow chart is:Diagnosis; treatment Indication; epiescleral brachytherapy Protocol; ultrasound, funduscopy; CT, MR; Record and analysis of information; treatment volume definition; treatment planning and optimization; Quality assurance of sources and applicators; Preparation of the set applicator – sources; Plaque placement; Patient and radiation surveillance; Plaque recovery; Follow‐up. Conclusions: The example gathered in the present work shows the importance of the establishment of programs of quality assurance in treatments as episcleral brachytherapy or any other radiation treatment.Acknowledgments:This work has been financed partly by a grant of the Junta de Castilla y León (Order SAN/1322/2006 of August 22, BOCYL of August 29, 2006)
Full field ERG values before and after anti‐VEFG treatment in AMD affected subjects
Authors: VARANO L , CAMPAGNA F , RUSSO C , SCORCIA V , SCORCIA GB , BRUZZICHESSI D , PARISE S , CARNOVALE SCALZO G , SCORCIA G 
Published: October 2007

Abstract Purpose: To compare ERG b‐wave amplitude differences before and after treatment with sodium pegaptanib intra‐vitreal injection. Methods: 14 patients all affected by exudative AMD were submitted to scotopic, combined and fotopic full field ERG, to estimate photoreceptorial electric activity through b‐wave amplitude. All patients have then been treated with 1 to 4 intravitreal injections of 0,3 ml sodium pegaptanib. Time between each injection was 2‐4 weeks. After one and two months than first injection all patients were again submitted to full field ERG. Data were related with ERGs obtained before first injection. Results: In 6 patients we found a b‐wave amplitude increase of about 20% two months after first injection. Remaining 8 patients showed no valuable differences in ERG amplitude before and after treatment. Conclusions: In a valuable number of subjects, sodium pegaptanib intravitreal injection, seem to emprove photoreceptorial electric activity. Other studies are needed to confirm this hypothesis.
Corneal hysteresis in patients with corneal pathologies
Authors: HERDENER S , PFEIFER N , LAUTEBACH S , PACHE M 
Published: October 2007

Abstract Purpose: To investigate the corneal hysteresis (CH), the corneal resistance factor (CRF) and the corneal compensated intraocular pressure (IOPcc) of subjects with normal corneas and with corneal pathologies with the Ocular Response Analyzer (ORA). Methods: IOP was measured using Goldmann applanation tonometry (GAT), dynamic contour tonometry (DCT) and ORA in 102 subjects with normal corneas and in patients with keratoconus (KC, n=32), Fuchs endothelial corneal dystrophy (FD, n=34) and penetrating keratoplasty (KP, n=50). Additionally central corneal thickness (CCT) and CH were quantified. Results: CH and CRF were significantly reduced in all groups with corneal pathologies in comparison to the normal group (CH: 7.7 (KC), 8.9 (KP), 7.3 (FD) versus 10.3 (N), CRF: 6.4 (KC), 9.3 (KP), 8.2 (FD) versus 10.8 (N) mmHg). High significant differences were also observed in mean IOP between the control group and the groups with corneal pathologies. There was a significant correlation between CH and CCT for normal corneas and corneas with KC and KP. Conclusions: CH and CRF are significantly decreased in patients with KC, FD and KP compared to subjects with normal corneas. Patients with corneal pathologies showed a substantial variability of mean IOP‐values evaluated by using different methods of IOP‐measurement in comparison to subjects with normal corneas suggesting that corneal properties strongly influence the validity of IOP‐measurements.