bluuebunny/crossref_metadata_2025_split huggingface dataset:
Non‐syndromic retinitis pigmentosa: Phenotype‐genotype correlation in twelve Tunisian families
Authors: EL MATRI L , CHEBIL A , FALFOUL Y , LARGUECHE L , MUNIER F , SCHORDERET D 
Published: August 2012

AbstractPurpose To evaluate the clinical phenotype of twelve families with non syndromic retinitis pigmentosa (RP), to characterize genes and mutations causing these conditions and to elaborate phenotype/genotype correlations.Methods Ophthalmic examination and various visual tests were performed. DNA was analyzed using single nucleotide polymorphism, microsatellite genotyping and direct sequencing to determine the genes and mutations involved.Results We identified 8 genes: RPE65, RDH12, USHER 2A, PDE6a, PDE6b, CRB1, NR2E3 and RGR. Many of the phenotypes were more prevalent with particular genes. Analysis of phenotype‐genotype correlation indicated that some genes were associated with specific phenotypes. In RPE65 mutations we found early onset dystrophy, nystagmus, keratoconus, white dot deposits in earlier stages and clumped pigment in later stages. The RDH12‐associated phenotype showed severe and early‐onset dystrophy, diffuse spicule pigmentation, macular edema and tomographic re‐organization of retinal lamination with thickened macula. CRB1 mutation was characterized by preserved para‐arteriolar retinal pigment epithelium and yellow round deposits in the posterior pole and there was no hemeralopia.Conclusion RP is clinically and genetically heterogeneous.The two ultimate goals of research are to provide efficient clinical diagnostic of affected gene by phenotype‐genotype correlation and to design novel treatment regimes. Our aim is to create a specific chip for our population, and then future research will focus on the identification of the remaining causal genes, the elucidation of the molecular mechanisms of disease in the retina and the development of gene therapy approaches.
Vascular endothelial growth factor A genetic polymorphisms and AMD in Tunisians
Authors: EL MATRI L , HABIBI I , CHEBIL A , SFAR I , KORT F , GORGI Y 
Published: August 2012

AbstractPurpose To determine whether vascular endothelial growth factor (VEGF) gene polymorphism plays a role in either susceptibility risk for exudative AMD, serum VEGF levels variations and treatment with intravitreal bevacizumab in TunisiansMethods In this case–control study, we included 96 patients with exudative AMD and 207 age‐matched controls treated with intravitreal bevacizumab. Single nucleotide polymorphism (SNP) genotyping was performed using restriction fragment length polymorphism (RFLP) analysis of polymerase chain reaction (PCR) products. The serum VEGF was assayed by ELISA (R&D).Results The frequency of the VEGF ‐2578 A allele was significantly higher in AMD patients than in controls (p=0.005; OR: 2.12[1.23‐3.66]) and was statistically associated to higher serum levels of VEGF (93.30 pg/ml versus 39.75 pg/ml for C allele) (p: 0.021). When examining the effect of this polymorphism on post‐treatment visual acuities (VA), we observed that A variant allele was also statistically more prevalent among patients with better outcome for distance and reading visual acuity after three bevacizumab injections compared to those with loss of 3 or more lines in visual acuity (OR = 2.5, 95% CI [1.13‐5.73], p = 0.02). Furthermore, the mean of VEGF plasma level is significantly higher (170.97 pg/ml) in patients with enhanced VA compared to those with worse outcome for distance and reading visual acuity (45.52pg/ml) (p=0.003).Conclusion In addition to the higher risk for exudative AMD in Tunisian patients with the ‐2578 A VEGF, our results show that this allelic variant also correlates with better visual acuity outcome after treatment with bevacizumab probably through a functional or quantitative variation of plasma levels of this molecule.
Nailfold capillaroscopic examination and T786C endothelial nitric oxide synthase polymorphism in normal tension glaucoma patients
Authors: LUKASIK U , KOSIOR‐JARECKA E , BARTOSINSKA J , KOCKI J , WROBEL‐DUDZINSKA D , CHODOROWSKA G , ZARNOWSKI T 
Published: August 2012

AbstractPurpose The purpose of this study was assessment of nailfold capillary changes and their possible relation to polymorphism of a gene encoding endothelial nitric oxide synthase (eNOS) in normal tension glaucoma (NTG) patientsMethods The study included 35 normal‐tension glaucoma (NTG) patients (23 female and 12 male). Capillaroscopic examination of the nailfold capillaries of II to V fingers of both hands was performed (before and after the cold provocation test) by means of a videocapillaroscope. T786C eNOS gene polymorphism was determined by RT‐ PCR methods.Results 31 (88.6%) patients suffered from cold extremities. In 24 (68.5%) patients nailfold capillaroscopy was within normal limits, in 11 (31.5%) patients the results were abnormal, 4 (11.4%) of them mimicked changes observed in sclerodermia. The cold provocation test was positive in 43.5% of NTG patients. The patients with NTG presented the following nailfold capillaries: megacapilaries or dilatated capillaries (44.4%), ramified/bushy (18.9%), coiled (17.1%). Assessing the T786C polymorphism of eNOS gene in NTG patients, TT genotype was present in 36% patients, TC in 52.6% and CC in 11.3%. There were no correlation between SNP variants and capillaroscopy results nor cold provocation test ( p=0.9 and 0.5, respectively).Conclusion The T786C polymorphism of eNOS gene does not influence the capillaroscopy results. The high incidence of sclerodermia ‐ like changes in capillaroscopy in NTG needs further studies.
Prevalence and risk factors for refractive errors among the university students of Iran
Authors: YEKTA AA , GHASEMI S , KHABAZKHOOB M , OSTADIMOGHADDAM H , YEKTA R , DERAKHSHAN A , HERAVIAN J , AZIMI A , RASHID TORABI M 
Published: August 2012

AbstractPurpose To determine the prevalence and risk factors of refractive errors in Iranian university students.Methods In a randomized study, of 424 selected students from the six schools of Mashhad University of Medical Sciences (MUMS), 406 of them participated in the study (response rate: 95.7%). Refractive errors were corrected using auto refraction checked by retinoscopy and subjective refraction. Myopia defined as spherical equivalent (SE) refraction ‐0.50 dioptre (D) or worse, hyperopia as SE of +0.50D or more, and astigmatism as cylinder –1.0D or worse.Results The prevalence of myopia, hyperopia and astigmatism were 38.4%, 13.8% and 12.8% among the university students respectively. The prevalence of spherical refractive errors were different in males and females (P=0.038).Conclusion The results of this study indicated that nearly two‐third of the university students have refractive errors. Myopia appears to be more common among highly educated persons and unversity students are at high risk for it.
Blood basement membrane alterations in human retinal microaneurysms during aging
Authors: RUBERTE J , LOPEZ‐LUPPO M , RAMOS D , MENDES‐JORGE L , NAVARRO M , CARRETERO A , RODRIGUEZ‐BAEZA A , NACHER V 
Published: August 2012

AbstractPurpose Different studies indicates that the presence of retinal microaneurysms, dilations of the capillaries which often develop as gross outpouchings of the vessel wall, appears during human aging. However, little is known about the mechanisms involved in the development of these structures. The aim of this study was to examine whether basement membrane protein expression and organization changes during the formation of retinal microaneuryms.Methods Human retinas were obtained from 17 donors: 14 old‐donors and 3 middle‐aged donors. Basement membrane proteins (collagen IV, laminin, fibronectin, nidogen), perlecan and MMP‐9 expression were analyzed in paraffin sections and whole‐mount formalin fixed retinas using immunohistochemistry and laser‐confocal microscopy. The structure of basement membrane was analyzed by TEM.Results Microaneurysms were present in all the retinas obtained from old donors but were absent in the retinas obtained from midle‐aged donors. Microaneurysms were classified as Type I (early stage) and Type II (advanced stage). We observed that all basement membrane proteins increased its expression in Type I microaneurysms, but they disminished in Type II microaneuryms. In addition, MMP‐9 was strongly expressed in microaneurysms producing basement membrane disorganization.Conclusion Collagen IV, laminin, fibronectin, nidogen and perlecan were increased in Type I microaneurysm basement membrane. A concommitant expression of MMP‐9 could explain the disorganization of blood basement membrane components.
Normative data for macular thickness by Spectral Domain OCT in healthy children.
Authors: PEREZ GARCIA D , PINILLA I , IBANEZ ALPERTE J , ASCASO F , CRISTOBAL JA 
Published: August 2012

AbstractPurpose To evaluate normal values of macular thickness and macular volumen in children without any known retinal disease, using Spectral Domain Coherence Tomography.Methods This study envolved 323 eyes from 323 pediatric patients (138 male,185 female) with ages between 3 and 14 years. All patients underwent a detailed eye examination, including best corrected visual acuity, cover test, slit lamp and fundus examination and refraction after pupillary dilation. Spectralis OCT scanning were performed by the same operador on all subjects.Results The 323 subjects had a mean age of 8,3 years (3‐14) and the average spherical equivalent value was 0,08 ± 0,14 (‐0,06, 0,22). Foveal thickness was 217,08 ± 3,23 (214, 220) for children aged 3‐5, 219,16 ± 3,27 (216, 222) for children 6‐8 , 215,25 ± 2,97 (212, 218) for children between 9‐11 years, and 222,83 ± 3,53 (219, 226) for subjects aged 12‐14 years. There was no significant difference with age o gender. Macular volume values are also presented.Conclusion Our study reports normative data for macular thickness in healthy pediatric patients with SD‐OCT . Values obtained may be useful in screening for retinal disease in childhood.
Hypoxia Inducible Factor‐1a (HIF‐1a) and Heat Shock Proteins 90, 70 (HSP 90, 70) expression in ocular pterygium and normal conjunctiva.
Authors: PAGOULATOS D , PHARMAKAKIS N , ARGYROPOULOU A , ASSIMAKOPOULOU M 
Published: August 2012

AbstractPurpose Research has shown that HSPs participates in preserving HIF‐1a function. In this study, HIF‐1a, and HSP90, 70, expression and immunolocalization in ocular pterygium and normal conjunctiva samples was examined.Methods Fifty nine samples of ocular pterygium and twenty samples of normal conjunctiva, surgically removed, were tested with immunohistochemistry, immunofluorecense and western blot analysis.Results Between pterygium specimens and normal conjuctiva specimens, significant differences were observed in the expressions of proteins HSP90 (p=0.002), HIF‐1a (p=0.048). No significant differences were found in the expressions of HSP70 in ocular pterygium when compared to the normal conjunctiva.Conclusion These data provide molecular evidence that Hypoxia‐Inducible Factor‐1a and HSP90 may have a role to play in pterygium pathogenesis.
Comparative endonasal analysis of the inferior lateral wall of the nasal fossae in adults with and without epiphora
Authors: HUBAULT B , VALLE D , MEROL JC , ARNDT C , DUCASSE A 
Published: August 2012

AbstractPurpose The development of endonasal dacryocysto‐rhinostomia is associated with the advent of nasal video endoscopia which enables a perfect visualization of the surgical site. As the inferior turbinate bones are close to the lacrimonasal duct orifice at the level of Hasner’s valvula, anatomic variations of endonasal structures could be associated with the occurrence of epiphora.Methods The results of nasal endoscopia between a group of adult patients with epiphora (n=35) and a control group of patients (n=19) without epiphora were compared. The endoscopic examination concentrated on changes of the inferior part of the nasal fossae and particularily on the inferior meatus and inferior turbinate bones. A non parametric Mann Whitney test was performed to compare the findings in the two groups.Results Neither the edema of the inferior turbinate bones nor the visibility of the inferior meatus were associated with epiphora due to lacrimonasal duct stenosis (avec p >0.05). It appeared that there are major anatomic variations of the nasal fossae between two patients but also between either side of the same patient. The lack of difference observed between the two groups of patients could be due to the major anatomic variations observed in the nasal fossae.Conclusion No particular correlation between anatomical changes of the lateral wall of the nasal fossae and the existence of lacrimonasal duct stenosis was found. However it remains essential to perform preoperative nasal endoscopy in order to detect a possible cause of lacrimonasal duct stenosis and thus evaluate the feasibility of surgery.
Changes in meibography in pediatric blepharokeratoconjunctivitis
Authors: BOLDIN I , RABENSTEINER DF , WOLTSCHE N , PöSCHL E:M: , HORWATH‐WINTER J 
Published: August 2012

AbstractPurpose Pediatric blepharokeratoconjunctivitis is an underrecognized and poorly defined disorder. Few details are known about its underlying etiology because children are less cooperative with intensive examination. Nevertheless the meibomian gland dysfunction seems to play an important role in the etiology. Non‐contact Meibography can achieve a non‐invasive investigation of the meibomian glands inside the tarsal plates of the eyelids. The purpose of this study was to investigate meibomian gland morphology in pediatric blepharokeratoconjunctivitis by non‐contact infrared Meibography.Methods The study group included 10 children (20 eyes) suffering from pediatric blepharokeratoconjunctivitis. Subjective symptoms of ocular discomfort, conjunctival and corneal involvement were recorded. The lid margins were evaluated and non‐contact Meibography was performed. Partial or complete loss of the meibomian glands and the presence of tortuosity were checked.Results All patients reported ocular discomfort as well as lid margin, conjunctival, and corneal involvement. The mean age of the study population was 8 years (2‐16 years) and 60% were female. In 8 children (out of 10) meibography revealed partial or complete drop out of meibomian glands in the upper or lower tarsal plate but more frequently in the lower tarsal plate, also abnormal tortuosity of the meibomian glands in the upper eyelid was found.Conclusion Our investigations showed that pediatric blepharokeratoconjunctivitis can be associated with drop out or abnormal tortuosity of meibomian glands evaluated with meibography.
Evaluation of limbal stem cell deficiency: a new diagnostic tool based on keratin 13 immunostaining in corneal impression cytology
Authors: POLI M , JUSTIN V , DAMOUR O , BURILLON C 
Published: August 2012

AbstractPurpose The aim of this study was to develop a validated, reliable and minimally invasive technique for diagnosing limbal stem cell deficiency (LSCD) using immunocytochemical detection of conjunctival and corneal keratins on epithelial cells collected by impression cytology (IC).Methods After validation of the labelling techniques on a cohort of ten healthy control patients, keratins K12, K13 and K19 were labelled on corneal IC of ten eyes suspected of LSCD. Positive scores for the conjunctival markers K13/K19, combined with the rarity of the corneal marker K12, were diagnostic proof of LSCD.Results IC is a reliable and noninvasive technique for collecting epithelial cells. The labelling validation phase eliminated K3 labelling due to lack of corneal specificity. Among the patients with suspected LSCD, nine samples were diagnosed with LSCD, which was severe (K12 negative) in eight cases and mild (K12 positive) in one case. One sample could not be analysed due to insufficient cells.Conclusion The immunocytochemical search for the K13/K19 pair using corneal IC provides a simple and reliable method for diagnosing LSCD, while the level of K12 provides a score of disease severity. On the other hand, we question the corneal specificity of K3 as conventionally established. Finally, to our knowledge, this is the first study detecting K13 on a conjunctival IC specimen as a marker of conjunctival differentiation.
Identification of factors regulating differentiation and growth of limbal stem cells for corneal surface regeneration
Authors: HOLAN V , TROSAN P , KRULOVA M , ZAJICOVA A 
Published: August 2012

AbstractPurpose To identify factors which are produced by damaged corneal epithelium and which control proliferation and differentiation of limbal stem cells (LSC).Methods The central cornea in the mouse was mechanically damaged and the cornea or limbal tissue was excised at different time intervals after injury. The expression of genes for a number of growth and differentiation factors in the cornea or limbus was determined by real‐time PCR. The effects of these factors on the growth and differentiation of LSC in vitro was tested.Results It was found that the expression of a number of genes in the central cornea was significantly enhanced already 3 or 6 hours after the cornea damage. Insulin‐like growth factor I (IGF‐I) which is strongly upregulated shortly after injury, was identified as the main factor responsible for LSC differentiation into cells expressing cytokeratin K12, a marker of corneal epithelial cells. Furthermore, IGF‐I enhanced expression of its own receptors in LSC, but it had no effect on LSC proliferation. Another two factors produced by the corneal epithelium, fibrocyte growth factor (FGF) and epidermal growth factor (EGF), supported LSC proliferation without effect on their differentiation.Conclusion IGF‐I was identified as the main factor inducing differentiation of LSC into cells expressing corneal epithelial cell markers. The proliferation of these cells was supported by FGF and EGF.
Gene transfer of HSV1‐specific meganuclease to the murine cornea
Authors: ROUSSEAU A , ERGANI A , GABISON E , CORRAL M , GAILLEDRAT M , DESSEAUX C , ROY P , CHAPELLIER B , LABETOULLE M 
Published: August 2012

AbstractPurpose Recombinant Adeno‐Associated virus (rAVV) encoding meganucleases specifically designed to address Herpes simplex virus type 1 (HSV1) reduce HSV1 replication both in vitro and ex‐vivo. The main issue of this potential antiviral treatment is the delivery system. To evaluate a vector‐free method, we tested an electroporation process to transfer HSV1‐specific meganucleases (HSV1‐SM) to the murine corneaMethods Corneal gene transfer was achieved by subconjunctival injection (SCI) of recombinant plasmid encoding either GFP (group 1; n=30) or HSV1‐SM (group 2; n=12), followed by electroporation. Mice were sacrified at day (D)1, 3, 7, 13, 35 (group 1) and at D13 and 35 (group 2). Control group consisted in SCI w/o electroporation. Corneal samples were analyzed for the expression of transcripts encoding GFP and HSV1‐SM using real time PCR. The results were compared to those obtained following SCI of rAAV encoding either GFP or HSV1‐SMResults For HSV1‐SM, SCI plus electroporation induced a stronger expression than SCI alone at D13. In group 1, the expression of GFP transcripts decreased from D1 to D35. However, until D13, their levels of expression were higher than those obtained with the rAAV method (p<0.002). Similarly, the expression of HSV1‐SM transcripts at D13 was higher than those obtained with the rAAV method (p<0.002), suggesting that therapeutic concentration could be optimised with this method. At D35, results were not statistically different between the 2 methodsConclusion In our hands, with the method we used, we can conclude that SCI of plasmid encoding HSV1‐SM with immediate electroporation is an efficient method to improve delivery in short‐term but not in long‐term when compared to rAAV
Risk factors for contact lenses related microbial keratitis: a prospective multicenter case control study
Authors: BOURCIER T , SAUER A 
Published: August 2012

AbstractPurpose MMK remains a rare complication of CL wear, but is of interest because it is both a major cause of new cases of MK in the population, and the only sight‐threatening complication of an otherwise safe method of vision correction. The aim of the study is to identify risk factors and to put into perspective the individual risk and the societal burden of CL‐related MK patients.Methods A prospective multicenter case‐control study was conducted in 16 French University Hospitals on all lenses wearers presenting with MK between July 2007 and December 2011. Patients had a complete ophthalmological examination and were interviewed by a 50 items anonymous "questionnaire" to determine subject demographics and lenses wear history. The CL related MK subpopulation (Case) was compared to healthy CL wearers (Control).Results 684 CL related MK and 599 healthy CL wearers were included. Patients wearing soft contact lenses had a higher risk for MK, as compared as rigid lenses wearers (Relative risk, 4.1 ; p < 0.001). Among soft lenses, daily disposable CL (RR, 1.8 ; p = 0.01) and 2 weekly replacement CL (RR, 2.1 ; p < 0.001) had an increased risk of MK than monthly replacement CL, respectively because of some lacks in basic rules of hygiene (absence of hand washing) and the absence of a professional supervision for daily disposable CL and the overtaking of the deadline of renewal for 2 weekly replacement CL.Conclusion With the increasing avaibility of CL, notably through internet or local market, this study serves to highlight the increasingly documented dangers of freely available CL without professional supervision and of the lack of information about the basic rules of hygiene and the basis of CL care and handling.
Role of human corneal stroma‐derived mesenchymal‐like stem cells in immunity and wound healing
Authors: VEREB Z , ALBERT R , MOE MC , RAJNAVOLGYI E , FESUS L , BERTA A , PETROVSKI G 
Published: August 2012

AbstractPurpose Mesenchymal stem cells (MSC) are the stromal cells of bone marrow, but they can be also found in other tissues including the cornea. Our goal was to isolate and cultivate human corneal stroma MSC‐like cells (CSMSCs) and study their role in immunity and wound healing.Methods Corneal buttons were harvested from cadavers (according to the Guidelines of the Helsinki Declaration). The isolated stromal cells were cultured ex vivo in human serum containing medium. Fluorescent microscopy, FACS and gene array analysis, as well as standardized in vitro differentiation assays were performed to investigate the stemness and phenotype of the CSMSCs. To investigate the immunosuppressive function of these cells, mitogen activated lymphocyte reaction and activation by pro‐inflammatory cytokines were used.Results According to the definition of the ISCT, the most important MSC markers (CD73, CD90 and CD105) were highly expressed on the surface of the CSMSCs with the absence of endothelial or hematopoietic cell markers. The CSMSCs were able to differentiate into fat, bone, cartilage tissues and close wounds within 24 hrs in vitro. They could suppress the proliferation of activated peripheral blood lymphocytes and secrete suppressive cytokines upon pro‐inflammatory activation.Conclusion We demonstrate a method for isolating and cultivating MSC‐like cells from human corneal stroma. The ex vivo data suggest that these cells may have a role in wound healing and immunological processes in the eye that can possibly be used in future treatments of ocular diseases and corneal stroma injuries.