bluuebunny/crossref_metadata_2025_split huggingface dataset:
Evaluation of MMP‐1 gene expression variants as a risk factors of primary open‐angle glaucoma
Authors: MAJSTEREK I , MARKIEWICZ L , PRZYBYLOWSKA K , GACEK M , KAMINSKA A , SZAFLIK J , SZAFLIK JP 
Published: December 2011

AbstractPurpose Matrix metalloproteinases (MMPs) have been extensively studied as primary open‐angle glaucoma (POAG) risk factors. Recently, several single nucleotide polymorphisms (SNPs) for MMPs encoding genes have been reported in POAG patients. Especially, the −1607 1G/2G polymorphism present in promoter region of MMP‐1 gene may affect its expression level. The aim of this study was to investigate the expression level of MMP‐1polymorphicvariants in POAG patients group.Methods In the present case‐control study we examined group of 232 POAG unrelated Caucasian patients (mean age 70±14) and 253 age, sex matched controls (mean age 67±16). The −1607 1G/2G MMP1 gene polymorphism was determined by polymerase chain reaction‐restriction fragment length polymorphism (PCR‐RFLP). The odds ratios (ORs) and 95% confidence intervals (CIs) for each genotype and allele were calculated. The expression level of the −1607 1G/2G polymorphic variants of MMP1 gene was measured by real time q‐PCR.Results A statistically significant increase of the 2G/2G genotype (OR 1.35; 95% CI 1.05‐1.67; P = 0.006) as well as the 2G allele frequency (OR 1.20; 95% CI 1.05‐1.37; P = 0.006) of MMP1 was found in POAG patients as compared to healthy controls. We observed statistically significant 8,32 fold higher expression level of the 2G/2G genotype as compared to the 1G/1G wild genotype (P < 0.001), either.Conclusion In conclusion, we suggest that the expression of the −1607 2G/2G genotype of MMP‐1 may be considered as an important risk factor associated with primary open‐angle glaucoma. This work was supported by grants N N402 375838 and N N402 248936 from Polish Ministry of Science and Higher Education.
Clinical assessment and molecular genetics of an autosomal dominant retinitis pigmentosa in a Bulgarian Roma family
Authors: KOEV K , CHERNINKOVA S , GEORGIEV R , KANEVA R 
Published: December 2011

AbstractPurpose To make a clinical assessment and molecular genetic analysis in patients with autosomal dominant form of retinitis pigmentosa (adRP) in a Bulgarian Roma family.Methods Clinical assessment and genealogical analysis in a Bulgarian Roma family suggested the presence of RP with autosomal dominant inheritance with at least 12 affected in 4 generations. Best corrected visual acuity; kinetic Goldmann perimetry; direct and indirect ophthalmoscopy; ERG; fluorescein angiography. The molecular genetic analysis involved screening of 15 known adRP genes using microarray panel of Asper Biotech in the index patient.Results T in exon 4 of the RP1 gene, leading to an amino acid substitution T373I was found in heterozygous condition.adRP is a severe and genetically heterogeneous retinal degeneration. We present a Bulgarian Roma family with typical clinical symptoms of RP and heterozygous change in the RP1 gene, which has previously been described as a possible disease causing mutation in a Pakistani family with adRP and in homozygous condition leading to a severe arRP in 2 consanguineous families of Pakistani origin.Conclusion The clinical and genetic analysis of additional affected and unaffected family members is ongoing. This will allow better genotype‐phenotype correlations to be made.
Angioid streaks leading to the discovery of a new mutation in pseudoxanthoma elasticum
Authors: LOCATELLI A , ZUILY S , WAHL D , ANGIOI K 
Published: December 2011

AbstractPurpose Discovery of angioid streaks can lead to the diagnosis of pseudoxanthoma elasticum (PXE), an unusual autosomal recessive genetic disorder. We report a new functional pathogenic mutation associated to phenotypic manifestations of the disease.Methods A 35‐year old female was admitted for an etiologic work‐up of a diffuse juvenile arteriopathy. Fundus examination evidenced typical peripapillary angioid streaks that led to the diagnosis of PXE, confirmed by genetic analysis of the ABCC6 gene. Our patient was compound heterozygote for two heterozygous mutations: one at exon 24 (c.3421C>T, R1141X), the other at exon 17 (c.2153A>G, D718G) not described before. Among her siblings, her brother and one sister were compound heterozygotes for the two mutations and had vascular symptoms and angioid streaks as well. Her mother was heterozygous for the D718G mutation while her father was heterozygous for the R1141X mutation. Both were asymptomatic.Results ABCC6 gene implication in PXE was first described in 2000. Pathological mutations are mostly located from exons 23 to 29. The R1141X mutation is already known to be associated with a strong increase in the prevalence of coronary artery disease. Our results highlight that the D718G mutation is functional and may have a pathogenic role mainly due to its segregation with the disease and genetic arguments (Grantham’s distance, damaging role related in the Polyphen tool online).Conclusion Diagnosis of angioid streaks can lead to the diagnosis of PXE confirmed by genetic analysis. Examination of our patients allowed us to describe for the first time a new mutation of the ABCC6 gene (D718G), associated with the classical and recurrent R1141X mutation and with phenotypic manifestations of PXE.
Simulation and psychosomatic events in ophthalmology
Authors: CRETU I , BETERMIEZ P , MILAZZO S 
Published: December 2011

AbstractPurpose The simulation is the act by which one seeks to mimic the symptoms of a disease with some ulterior motive. It occurs in people who seek to obtain compensation (through accident) or a legal or professional advantage. The simulation is to differentiate psychosomatic states requiring expertise neuro‐ophthalmological and psychiatric long and complex.Methods This is a single‐center retrospective study, conducted over the past ten years, performed in Picardy to the Eye Clinic St Victor, CHU d'Amiens. We identified 13 patients with suspected nonorganic visual loss. Once these patients are identified, we analyzed their records eye. We illustrate by these observations the diagnostic difficulties in ophthalmology to remove the organic and definitely eliminate nonorganic origin.Results Among the 13 clinical cases, 8 were referred for low vision, 2 for the deficit of the visual field and 3 for unexplained photophobia. These last three cases were found to be sunglass syndromes.Clinical, electrophysiological, psychosomatic features and testing strategies are discussed.Conclusion The ophthalmologist may need to see in consultation for patients with eye symptoms whose origin is other than "psychogenic". The challenge is to make the diagnosis with certainty and eliminate organic disease. The ophthalmologist can make use of subjective or objective methods and diagnostic testing that help diagnose simulation. In addition, four pathological traps are often problematic. He must think systematically: Stargardt's disease, optic atrophy, moderate keratoconus beginner, the visual hemi‐neglect. Clinical examination and complementary examinations will say will affirm these diseases, which are difficult to diagnose early.
Anti‐VEGF for the treatment of serous and vascularized RPE detachment n exudative AMD
Authors: KAPETANIOS A 
Published: December 2011

AbstractChoroidal neovascularization (CNV) associated with retinal pigment epithelial detachment (PED) in AMD is a subtype of AMD with a bad prognosis and a high risk of retinal pigment epithelium (RPE) tear. The efficacy of current treatment options is limited, and the anatomical and functional results are not favourable after both laser photocoagulation and photodynamic therapy (PDT). We will discuss the effect and outcome of anti‐VEGF intravitreal injection in treating CNV associated with PED in AMD.
Anti‐VEGF for the treatment of diabetic macular edema
Authors: POURNARAS JAC , MASSIN P 
Published: December 2011

AbstractPurpose To assess efficacy and safety of intraocular injections of anti‐VEGF in patients with diabetic macular edemaMethods The gold standard for treatment has been laser coagulation. Limitations of this therapy are refractive DME, ischemic diabetic maculopathy and complications after laser application. The need for a non‐destructive and effective strategy has led to investigations regarding VEGF inhibitors for reduction of vessel leakage and oedema formation. Trials for different anti‐VEGF compounds are nearing completion or are completed. Data regarding dose, injection scheme and practicable application form are reviewed. Combination of laser therapy and anti‐VEGF will be reported.Results For diabetic macular edema, trials of intravitreal pegaptanib and intravitreal ranibizumab have shown short‐term benefit in visual acuity. Intravitreal bevacizumab also has been shown to have beneficial short‐term effects on both visual acuity and retinal thickness. Furthermore, combined therapies shows promising results. Despite promising early reports on the safety of these medications, the results of large, controlled trials are still expected in order to substantiate the safety and efficacy of anti‐VEGF drugs for diabetic retinopathy.Conclusion New therapeutic approaches based on intravitreal injections of anti‐VEGF molecules offer new hope for the management of diabetic macular edema. However, randomized studies are needed in order to attest longterm safety and efficacy profiles.
Anti‐VEGF for treatment of macular edema secondary to retinal vein occlusions
Authors: MENDRINOS E 
Published: December 2011

AbstractPurpose To assess efficacy and safety of intraocular injections of 0.3 mg or 0.5 mg ranibizumab in patients with macular edema following branch and central retinal vein occlusion.Methods Prospective, randomized, sham injection‐controlled, double‐masked, multicenter clinical trials. Six‐month (monthly injections) and one year (PRN) results of the BRAVO and CRUISE studies will be presented.Results In the BRAVO study, mean change from baseline BCVA letter score at month 6 was 16.6 and 18.3 in the 0.3 mg and 0.5 mg ranibizumab groups and 7.3 in the sham group (P<0.0001). At 12 months, the corresponding change was 16.4, 18.3 and 12.1 letters respectively.The percentage of patients who gained > or =15 letters in BCVA at month 12 was 56% (0.3 mg) and 60.3% (0.5 mg) in the ranibizumab groups and 43.9% in the sham group; and CFT had decreased by a mean of 314 microm (0.3 mg) and 347 microm (0.5 mg) in the ranibizumab groups and 274 microm in the sham group). In the CRUISE study, mean change from baseline BCVA letter score at month 6 was 12.7 and 14.9 in the 0.3 mg and 0.5 mg ranibizumab groups, respectively, and 0.8 in the sham group (P<0.0001).At 12 months, the corresponding change was 13.9, 13.9 and 7.3 letters respectively.The percentage of patients who gained > or =15 letters in BCVA at month 12 was 47% (0.3 mg) and 50.8% (0.5 mg) in the ranibizumab groups and 33.1% in the sham group;CFT had decreased by a mean of 453 microm (0.3 mg) and 462 microm (0.5 mg) in the ranibizumab groups and 427 microm in the sham group).Conclusion Intraocular injections of 0.3 mg or 0.5 mg ranibizumab provid rapid, effective treatment for macular edema following BRVO and CRVO with low rates of ocular and nonocular safety events
Azithromycin: intrinsic cytotoxic effects on corneal epithelial cell cultures
Authors: MENCUCCI R , PALADINI I , FAVUZZA E , SCARTABELLI T , MENCHINI U , PELLEGRINI GIAMPIETRO D 
Published: December 2011

AbstractPurpose To compare the cytotoxic effects of preservative free azithromycin versus preservative free netilmycin and levofloxacin upon corneal epithelial cells in vitro.Methods Corneal epithelial cells in vitro were incubated for 15 min and 6 hours with preservative free netilmycin or levofloxacin and different concentrations of unpreserved azithromycin. Qualitative analysis was performed by using phase contrast optics and examining the morphological aspects of cell cultures. Quantitative analysis was performed by measuring the release of cytoplasmic enzyme lactate dehydrogenase (LDH) into the medium immediately and 24 h after exposure to drugs. We also observed the wound healing rate of mechanically injured corneal epithelial cells cultured in each antibiotic preparation for 24 and 48 hours.Results The unpreserved preparation of azithromycin up to a concentration of 1.5% showed a low cell toxicity, not significantly different from the other antibiotic preparations (p>0.05). Azithromycin did not inhibit the wound healing process after the mechanical injury.Conclusion Under our experimental conditions, unpreserved azithromycin 1.5 % showed a low cytotoxicity and did not interphere with wound healing process.
Retinal evaluation by optical coherence tomography in adults with obstructive sleep apnea syndrome
Authors: CASAS P , ASCASO FJ , ADIEGO MI , JIMENEZ B , CABEZON L , CRUZ N , TEJERO‐GARCES G , CRISTOBAL JA 
Published: December 2011

AbstractPurpose Obstructive sleep apnea syndrome (OSAS) is a common sleep and breathing disorder characterized by repeated episodes of hypoxemia.OSAS is associated with persistent neurocognitive injury that may be reflected in structural changes in certain brain regions. The aim of this study is to determine the peripapillary retinal nerve fiber layer (RNFL) thickness, macular thickness and volume by optical coherence tomography (OCT) in adults with OSAS in order to detect axonal injury in this population.Methods Fourty‐nine eyes corresponding to 26 patients (mean age +/‐ SD: 50.8 +/‐ 12.7 years; range: 14‐75; female/male: 5/21) with newly discovered and previously untreated moderate to severe OSAS (apnea‐hypopnea index >15) were compared by OCT with a control group of twenty‐two eyes corresponding to 14 age‐matched healthy individuals (mean age +/‐ SD: 52.1 +/‐ 15.4 years; range: 14‐74; female/male: 7/7), measuring peripapillary RNFL thickness, macular thickness and volume, and optic nerve head (ONH) parameters.Results OSAS patients revealed a significantly lower RNFL thickness in the nasal part of the optic disc (74.6±13.5 µm, range: 47‐100) compared to controls (83.2±14.7 µm, range: 56‐107) (p=0.015). OSAS patients also showed a decreased macular thickness in the outer nasal ring (250.7±13.6 µm, range: 227‐280) compared to controls (265.5±4.9 µm, range: 265‐272) (p=0.05). Other OCT measurements did not show any differences.Conclusion OSAS was associated with a decreased peripapillary RNFL and macular thickness in the nasal quadrants. Therefore, it might be a biomarker of this disease.
Effect of swelling on the ultra‐structure of camel corneal stroma
Authors: AKHTAR S , KHAN F , AHMED M , ALMUBRAD T 
Published: December 2011

AbstractPurpose Previous studies have shown the swelling characteristics of camel cornea. Here we investigate the changes in the architecture of corneal stroma due to swelling.Methods Six fresh camel corneal buttons (8.5mm) were hydrated separately in deionised water for 24hrs and 48hrs. The change in hydration of corneal stroma was calculated per unit weight. Hydrated corneas were fixed in 2.5% glutaraldehyde containing cuprolinic blue in sodium acetate buffer to analyse the distribution of proteoglycans (PGs). To analyse the collagen fibril diameter and spacing, tissue were fixed in para‐formaldehyde (4%) in 0.1M buffer and embedded in LR White.Results The hydration of corneal stroma after 24hrs and 48hrs was 54 per unit weight and 56 per unit weight respectively. The anterior part of the stroma was less affected by swelling compared to middle and posterior stroma. Stromal lamellae were disorganised with collagen fibrils running in random directions. Most of the keratocytes were disappeared, a small number present showed cell organelles. Throughout the stroma, PGs were rounded in shape instead of normal filaments. The PGs in the pre‐Descemet’s stroma were larger compared to anterior and middle stroma. The spacing between the collagen fibril had increased significantly, but the diameter was not affected in the anterior stroma.Conclusion Our study shows that camel cornea has a rather high hydration during the first 24 hrs. After 24hrs, hydration is comparatively low. Hydration of the cornea affects the uniform distribution of collagen fibrils and proteoglycans.
Mesenchymal‐like stem cells from human corneal stroma grown in medium containing human serum as the only supplement
Authors: ALBERT R , VEREB Z , MOE MC , FESUS L , RAJNAVOLGYI E , FACSKO A , BERTA A , PETROVSKI G 
Published: December 2011

AbstractPurpose Besides bone marrow, mesenchymal stem cells (MSCs) can be separated from various tissues including the cornea. We investigated whether human corneal stroma‐derived cells resemble MSCs and if they can be grown in animal‐materials free medium containing human serum as the only supplement.Methods Human cornea stromal cells were isolated from cadavers after removal of the epithelial and endothelial layers (approved by the Hungarian Regional Ethical Committee). The cells were grown in DMEM containing human serum as the only supplement. Immunophenotyping with MSC markers, integrins/cell‐adhesion‐, endothelial‐ and hematopoietic markers was carried out by FACS analysis. Standard manufacturer protocols were used for differentiating the cells into fat, cartilage or bone.Results Cells isolated from human corneal stroma grew as monolayers in vitro and could be maintained in culture for more than 10 passages (n=6). They expressed the most important markers for MSCs (CD73, CD90, CD105, CD44, CD147, PDGFRb) and were negative for the hematopoietic markers CD34, CD45, HLA‐DR, CD69 and CD133. High per cent of the cells expressed the pluripotency markers CD117, C‐kit and CD47, but not the endothelial cell markers CD31, CD105/V‐CAM, VEGFR2. One of the hallmarks of human MSCs being capable to differentiate towards adipocytes, chondrocytes and osteocytes could also be demonstrated.Conclusion Our results indicate the presence of MSC‐like cells in the human corneal stroma, which can be grown in human serum‐containing medium. This opens the door for studying human keratopathies, as well as corneal tissue engineering and cell‐based therapies.
Retinal nerve fiber layer thickness measured by
Authors: CABEZON L , ASCASO FJ , RAMIRO P , JIMENEZ B , PEREZ D , CASAS P , CRUZ N , CRISTOBAL JA 
Published: December 2011

AbstractPurpose Our study aims to assess retinal nerve fiber layer (RNFL) thickness in patients affected by schizophreniaMethods Ten schizophrenic patients were enrolled.They were compared with 10 age‐matched controls. In all subjects, optic nerve head measurements, peripapillary RNFL thickness, macular thickness and volume were measured by optical coherence tomography.Results Schizophrenic patients showed an statistically significant reduction of the overall RNFL thickness compared with those values observed in control eyes. We also observed reduced peripapillary RNFL thickness in nasal quadrant in schizophrenic patients when compared with controls. The remaining peripapillary RNFL quadrants, macular thickness and volume did not reveal differences between both groups. No statistically significant differences were observed between control group and schizophrenia patients with regard to ONH measurements, macular thickness and volume.Conclusion Schizophrenia patients had a reduction of peripapillary RNFL thickness evaluated by OCT. To our knowledge, neither reduced RNFL thickness nor macular thickness and volume have been previously documented in patients diagnosed with schizophrenia. These findings suggest that neuronal degeneration could be present in the retina of schizophrenic patients as previously observed in neurodegenerative disorders.
Ocular rigidity: Review of measurement methods and its implications in clinical practice
Authors: PALLIKARIS IG 
Published: December 2011

AbstractOcular rigidity is a parameter that characterizes the biomechanical behavior of the eye. Different measurement techniques have been adopted to quantify this parameter. Invasive measurements in experimental animals have provided initial information on the pressure‐volume relation, followed by manometric volumetric and tonographic techniques used in cadaver and living human eyes. Schiotz tonometry with different weights has been employed as a non‐invasive method of quantifying ocular rigidity. Other surrogate measures of ocular rigidity have also been used, incorporating fundus pulsation amplitude and choroidal blood volume. In order to approximate the pressure volume relationship, a variety of different mathematical formulations have been employed. Based on available data, ocular volume, age, intraocular pressure, arterial pressure and ocular blood volume have been identified as parameters that affect ocular rigidity. Moreover, there is mounting evidence in the literature that ocular rigidity may be implicated in the pathogenesis of ocular disease. However, its exact role as well as the underlying pathogenetic mechanisms remain to be elucidated.
Ocular pulsatility and Intraocular pressure
Authors: DASTIRIDOU A 
Published: December 2011

AbstractPurpose To characterize the effect of intraocular pressure (IOP) on ocular pulsation parameters.Methods Fifty cataract patients (50 eyes) were enrolled. After cannulation of the anterior chamber, a computer‐controlled device for the intraoperative measurement and control of IOP was used to increase the IOP in a stepping procedure from 15 to 40 mm Hg. Recordings of IOP were acquired after each infusion step. Ocular rigidity was computed from the pressure‐volume data. Ocular pulse amplitude (OPA), pulse volume (PV), and pulsatile ocular blood flow (POBF) were measured from continuous IOP recordings.Results The average rigidity coefficient was 0.0224 μL‐1 (SD 0.0049). OPA increased by 91%, while PV and POBF decreased by 29% and 30%, respectively, when increasing the IOP from 15 to 40 mm Hg.Conclusion An increase in IOP is associated with an increased mechanical resistance of the ocular wall, an increase in OPA and decreased POBF.
Morphological changes in peripapillary nerve fiber In multiple sclerosis patients
Authors: JANKOWSKA‐LECH I , GRABSKA‐ LIBEREK I , WASYLUK J , TERELAK‐BORYS B , PALASIK W 
Published: December 2011

AbstractPurpose The aim of this study was to estimate the incidence of lesions in the peripapillary retinal nerve fiber layer in population of patients suffering from sclerosis multiplexMethods Material of this study consists of 57 subjects (114 eyes) suffering from multiple sclerosis, in observation in our Department of Ophthalmology. In all patients spectral optical coherence tomography of the peripapillary retinal nerve fiber layer was performed by 3D‐ OCT 1000 (Topcon), glaucoma module, circular around the optical nerve head. Obtained data was analyzed, taking into consideration thickness of the nerve fiber layer in four sectors around the optic nerve head (ONH) and normative database classification (normal, borderline, outside normal limits). Outcomes were classified as borderline or outside normal limits when at least one eye was borderline or outside normal limits.Results In the obtained OCT results the following data was collected: normal group: 36 (63.2%), borderline group: 15 (26.3%) and outside normal group: 6 (10.5%). The particular numerical data of nerve fiber layer thickness in specific groups will be presented.Conclusion The percentage of patients with borderline or outside normal results of the nerve fiber layer thickness in the study group was significantly higher than in healthy population, e.g. in persons without glaucoma or sclerosis multiplex. This may suggest the common pathogenetical background of both diseases.