bluuebunny/crossref_metadata_2025_split huggingface dataset:
The acutely isolated human anterior lens capsule as a tool to study the physiology of human lens epithelial cells
Authors: ANDJELIC S , ROBIC T , PEROVSEK D , ZUPANCIC G , HAWLINA M 
Published: September 2008

Abstract Purpose The defects in functional characteristics of lens capsule epithelial cells, can lead to the formation of the cataract, especially as cortical cataract. In the germinative zone of the lens the same progenitor cells, which also form the epithelil cells, differentiate also into the fiber cells, which make up the inside of the lens and through their activity also keep the lens clear. When their function is impaired the nuclear cataract ensues. We set out to make a preparation of the human anterior capsule from cataract surgery, which would allow functional studies of the physiology of capsule epithelial cells from patients with different types of cataract, using cell physiological methods. Methods We used the entire anterior capsules, with the cells still attached. Cell contacts were preserved and allowed the communication between the cells. In addition all the contacts to the basement membrane were largely preserved although some parts of the capsule were denuded of the epithelium – possibly due to manipulation during the surgery itself, or to epithelial cell apoptosis. The remaining cells were viable and the capsules usable for experimentation for at least a day when kept in a tissue culture incubator. For experimentation using an inverted microscope, the capsules were weighed down with a harp as the one used for electrophysiological experiments. In a series of pilot experiments the lens epithelial cells were loaded with fura‐2. Results They exhibited normal [Ca2+]i responses to agonist application such as Ach. Conclusion We conclude that this preparation represents a useful tool to study many aspects of the lens epithelial cell physiology.
Anterior chamber morphometric estimation in patients they who underwent CTR implantation using Anterior Segment OCT and ultrasound biomicroscopy
Authors: MILKA M , WYLEGALA E , JANISZEWSKA D , NOWINSKA A , MANKOWSKI W 
Published: September 2008

Abstract Purpose To estimate anterior chamber morphometric parameters (depth and volume) in case of patients they who underwent cataract surgery with posterior intraocular lens and capsular tension ring (CTR) implantation, using Anterior Segment OCT (OCT Visante) and ultrasound biomicroscopy (UBM). Methods Studied group consisted of 23 persons 12 women and 11 men, aged from 79 to 52 years old (mean 63.9 years). BCVA ranged from 0.2 to 1.0 (mean 0.6). Anterior chamber depth and width were measured at first using Anterior Segment OCT (OCT Visante) than with the use of ultrasound biomicroscopy (UBM ). Anterior chamber volume was calculated. Results Anterior chamber depth measured using Visante OCT ranged from 4.34mm to 4.79mm ( mean 4.61 ± 0.17) and in case of UBM ranged from 4.17mm to 4.92mm ( mean 4.57 ±0.28). Anterior chamber volume measured using Visante OCT ranged from 230,42µl to 339,91µl ( mean 278,2 ± 31,32) and in case of UBM ranged from 212,75µl to 330,51µl ( mean 269,23 ±36,77). Conclusion Anterior Segment OCT is more precise in anterior chamber estimation also allows to enlarge measured area. As a non contact device is easier and faster to performe, however picture’s width in case of ultrasound biomicroscopy is larger.
Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency and senile cataract in a sardinian population, Italy
Authors: PES A , SOLINAS G , PINNA A 
Published: September 2008

Abstract Purpose There is still no general agreement on the role of G6PD deficiency in the pathogenesis of cataract. Although G6PD deficiency has been correlated with cataract in some studies, other reports have showed no correlation. The purpose of this study was to determine the prevalence of G6PD deficiency in male patients of Sardinian origin with senile cataract and to compare it with the prevalence rate of G6PD deficiency in the general population of the same area. Methods Erythrocyte G6PD activity was determined using a quantitative assay in 1628 male patients with cataract. The control group consisted of 1646 apparently healthy male patients from the same area described in a former study. Student’s t test was used to determine differences between groups. Results G6PD deficiency was found in 134 (8.2%) patients with cataract and in 120 (7%) control subjects. Differences between cases and controls were not statistically significant (P=0.78). Conclusion The results of this large study suggest that male patients with G6PD deficiency in the Sardinian population do not have a higher risk of developing presenile cataract.
Protein quality control and ubiquitin proteasome system: implications on cataract
Authors: MARQUES C , SHANG F , PEREIRA P 
Published: September 2008

Abstract Purpose Accumulation of damaged or abnormal proteins is cytotoxic and is causally related to various age‐related diseases, including cataract. The objective of this study is to investigate the effect of 19S regulatory complexes on the fate of damaged proteins. Methods The denaturation of firefly luciferase (a model protein) was performed at 43°C during 10 min in the presence of Hsp90 and denaturation of luciferase was monitored by the loss of its enzymatic activity. Luciferase activity in the cells was determined to monitor the refolding of denatured luciferase at 30°C in the presence or absence of ubiquitination system. Results The data showed that heat‐denatured luciferase was preferentially ubiquitinated and degraded by the UPP as compared with the native form. Inhibition of the ubiquitination or proteolysis enhanced renaturation. The 19S regulatory complex enhances renaturation of denatured substrate in the presence of ubiquitinating activity. The data also suggested that recognition of a poliubiquitinated substrate requires that polyubiquitin chain interact with specific domains of the 19S cap of the proteasome and this interaction play an important role on the fate of denatured proteins. Additionally, the data shown that are critical lysines in the ubiquitin moiety are required for an efficient and productive interaction with proteasome. Conclusion Failure in the protein quality control system is likely to have important implication in loss of lens transparency and cataract formation.
Effect of glutathione with sea tangle extract on prevention of selenite‐induced cataract formation in rat eyes
Authors: KIM K , OH JH 
Published: September 2008

Abstract Purpose To evaluate antioxidative and preventive effects of sea tangle extract on selenite‐induced cataract formation. Methods Eighty SD rat pups were randomized into 8 groups. Group 1, not injected any reagent (normal); In group 2‐8, selenite(15μmol/Kg, s.c.) was injected on day 11. In group 2 (control) and group 3, normal saline (i.p.) and ascorbic acid (i.p.) was injected on days 3–31; In group 4‐8, sea tangle extract (i.p.) was injected on days 3–31 with concentration of 12.5, 25, 50, 100, 200mg/Kg, respectively. Development of cataract was assessed and photographed weekly under slit lamp photo. After 31st day, rat lenses were analyzed for antioxidant enzymes, glutathione peroxidase (GPx), superoxide dismutase and malondialdehyde. Furthermore, amino acid analysis of sea tangle extract was performed. Results Significant differences (p < 0.05) were seen in cataract development by the 8 groups. No rats developed cataract in group 1; Dense nuclear cataract was developed 8 of 10 and 4 of 10 rats in each group 2 and 3; Group 4‐8 developed nuclear cataract with proportion of 6/10, 3/10, 2/10, 1/10 and 6/10 rats. In sea tangle injected group (group 4‐8), levels of GPx were higher than those in ascorbic acid and control group. Especially, group 7, injected with 100mg/kg of sea tangle extract showed significantly high level of enzyme. Results of amino acid analysis showed sea tangle includes glutamate‐glycine‐cysteine, major constituents of glutathione(GSH). Conclusion The glutamate‐glycine‐cysteine in sea tangle is supposed to increase the level of lens GSH and this may contribute to lowering cataract development. This study strongly supports the activity of sea tangle as an endogenous antioxidant and anticataract agent.
Modifications in conjunctival and limbar epithelium after micro‐incision cataract surgery (MICS). Impression cytology study
Authors: ALIO SANZ JL , RODRIGUEZ AE , WALEWSKA A , FERRER C , RODRIGUEZ‐PRATS JL , BATAILLE L 
Published: September 2008

Abstract Purpose To know if the exposition of the conjunctiva during the micro‐incision cataract surgery (MICS) and the energy released during the phacoemulsification produce alterations in the goblet cell population and nucleus / cito plasm relation in the different areas of the conjunctiva of these patients. Methods 32 patients scheduled for MICS surgery were included in this study. The cataract grade, phacoemulsification power, phacoemulsification time and time of the exposition of the conjunctiva were registered during the surgery. Goblet cell count, epithelial cell morphology and inflammatory cells were studied by conjunctival impression cytology before and after the surgery, at one and three months. The conjunctival samples were obtained from the nasal area, temporal area, and the phacoemulsification incision area. Results Mean age of the patients was 67‐years old. Mean phacoemulsification power was 6 %, and the “phaco” time was 30 seconds. Mean time of the exposition of the conjunctiva was 9 minutes and 30 seconds. Analysis by impression cytology of the ocular surface showed a goblet cell population pre‐operative of 408/mm2 in the nasal area, 317/mm2 in the temporal area, and 343/mm2 in phacoemulsification incision area. Goblet cell count in the three different places decreased significantly after MICS surgery: p=0.038, p=0.018, and p=0,001 respectively. Conclusion Impression cytology showed a significant reduction in the goblet cell populations after MICS in the three studied areas of the conjunctiva.
Ophthalmologic surgeries in the one‐day surgery unit. A descriptive study evaluating 13 years of activity
Authors: PEREZ GARCIA D , IBANEZ ALPERTE J , JIMENEZ A , VALYI S , MATEO OROBIA AJ , PEIRO C , ROJO M , CRISTOBAL JA 
Published: September 2008

Abstract Purpose A descriptive, retrospective study about the surgical activity at the One‐day surgery Unit (ODSU) of the Hospital Clínico Universitario Lozano Blesa, Zaragoza, Spain, during the years 1995 to 2007. Methods To review the surgical activity of the ODSU, the following variables were analyzed: sex, age, diagnosis, risk of anaesthesia and applied anaesthesia, surgical technique, intra‐ and postoperative complications, medication, morbidity, criteria of discharge from hospital, waiting list time as well as the grade of information given to the patient, comfort, sanitary attention, and grade of satisfaction. These data were obtained from a personal questionnaire and a phone call and were statistically analyzed by the StatView program. Results During the period of 1995 to 2007 13.585 surgical interventions were realized at the ODSU, among those 4.734 ophthalmologic surgeries (34, 8%). The average age of the patients was 56, 53 years. The 56 % were males. In the 22, 9% of the cases the employed anaesthesia was retrobulbar. The surgical techniques were: phacoemulsification and IOL 3550 (26, 1%), extracapsular cataract extraction 256 (1, 8%). In the 95% of the cases the patients were discharged from hospital, the remaining 5% is composed of non intervention, ocular hypertension, infection, retrobulbar haematoma and fever. The grade of general satisfaction was qualified as high (85%), with the acceptance to return to the ODSU in the 76% of the cases Conclusion The ODSU offers a safe, fast and comfortable alternative to classic hospitalisation.
Morphologic changes in haptoglobin knockout mice, typical for anterior segment dysgenesis, may be linked to diminished expression of C‐Maf
Authors: VAN GINDERDEUREN R , GALCIAS‐ROSAS G , CEUPPENS J , STALMANS I 
Published: September 2008

Abstract Purpose To study the ocular phenotype of mice that lack Haptoglobin (Hpko) and investigate whether these changes correlate with the expression of C‐maf. C‐maf is known to be expressed in embryonic life and to be involved in the development of the lens and anterior segment Methods Hpko mice and wild type(WT)littermates were histological investigated at embryonic day(E)12,15 and 18 and postnatal day(P)1,4 and 21. The expression of C‐maf was studied at mRNA level by rt‐PCR. C‐maf expression in eyes was compared in adult mice between clinically blind versus not‐blind Hpko and WT mice and in embryos at E12,between offspring from clinical blind versus not‐blind Hpko mothers Results Eyes of Hpko mice were histological normal at E12 compared with WT mice. At P1 eyes of Hpko mice were significantly smaller (mean 29%); in 55% of mice the lens was not yet separated form the cornea. At P21 12% of the eyes from Hpko mice still showed contact between lens and cornea; anterior senychiae were present in 42% of the eyes,whereas these structural abnormalities were never observed in WT eyes. The ocular C‐maf mRNA expression at E12 was significantly lower in Hpko embryos as compared to WT embryos (P<0.05). C‐maf expression levels in eyes of Hpko non‐blind mothers were intermediate Conclusion Haptoglobin knockout mice exhibit developmental disorders that are similar to those observed in developmental glaucoma. There is a delay in development of the anterior segment structures, which start during late embryonic life and continue after birth. C‐maf expression is diminished at E12 and this may be linked to the aberrant anterior chamber development
A novel OPA1 mutation in a patient with severe, acute and late‐onset Autosomal Dominant Optic Atrophy
Authors: NOCHEZ Y , ARSENE S , LE LEZ ML , AMATI‐BONNEAU P , REYNIER P , CARDON A , PISELLA PJ 
Published: September 2008

Abstract Purpose We report the first case of acute and late‐onset Autosomal Dominant Optic Atrophy with a novel mutation. Autosomal Dominant Optic Atrophy (ADOA) is an inherited primary optic neuropathy that leads to reduced visual acuity. ADOA has often been associated with mutations in OPA1 gene. OPA1 encodes a large dynamin‐related GTPase, involved in mitochondrial structure, mitochondrial DNA maintenance and apoptosis regulation. Methods We conducted direct DNA sequencing of the entire coding sequence and the exon/intron junctions of OPA1 gene. Results A 62‐year‐old woman noticed blurred vision with a central scotoma. Visual loss was sudden, painless and severe in her right eye. Papillary edema was noted. Left visual loss occurred one year after initial presentation. The ophthalmoscopic feature of our patient was diffuse optic disc atrophy. MRI examination confirmed the diagnosis of isolated bilateral optic neuropathy. We did not found any neurological, metabolic, toxic, or ophtalmic causes. One novel heterozygous missense mutation in exon 27 was characterized. This mutation has not been previously reported, was absent in 400 control chromosomes and affected highly conserved amino acids. Conclusion The age of onset, like ADOA penetrance must be accepted to be more variable than initially thought, including late‐onset cases. The presence of an OPA1 mutation reveales that this sporadic late‐onset and acute case of optic neuropathy is related to ADOA. This result shows that the mutation screening of OPA1 gene could be justified in every case of optic nerve atrophy with no clear cause.
Ophthalmological findings in childhood onset myotonic dystrophy type 1
Authors: ARING E , EKSTRÖM AB , TULINIUS MAR , SJÖSTROM A 
Published: September 2008

Abstract Purpose Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystemic disorder, characterised by increasing severity and anticipation (progressive expansion of the repeat size and earlier onset in successive generations). It is caused by an expanded cytosine‐thymine‐guanine (CTG) triple repeat expansions in the myotonic protein kinase gene located on chromosome 19. Muscle wasting, myotonia and cataract are features of classical DM1, while congenital and childhood DM1 are also present with CNS involvement and cognitive impairments. The aims of the current study were to describe ophthalmological findings in individuals with childhood onset DM1, to correlate the ophthalmological findings with the size of the CTG expansions, inheritance and the age of onset and presenting clinical symptoms. Methods Sixty‐ two children and adolescents were eligible for the study and 49 accepted to participate. All had clinical symptoms <10 years of age and were diagnosed with >40 CTG repeats <18 years of age. According to the age of onset and presenting clinical symptoms, the subjects were divided into three subgroups: I/ severe congenital II/ mild congenital and III/ childhood DM1. Results High hyperopia, heterotropia, subnormal VA, motility abnormalities and nystagmus were common features of congenital onset DM1. No cataract was found and ptosis was rare while pseudoptosis and motility disorders occurred frequently among individuals with high number of CTG repeats. Conclusion Ophthalmological pathology was common and individuals with severe congenital DM1 were present with the highest frequency. Number of CTG repeats affected the motility and pseudoptosis while inheritance had no influence on ophthalmological abnormalities.
Genetic analysis of families with autosomal recessive retinal dystrophies
Authors: KANNABIRAN C , SINGH H , JALALI S 
Published: September 2008

Abstract Purpose To screen candidate gene loci in families with autosomal recessive RP Methods We used an approach of screening for homozygosity at candidate gene loci in affected individuals. 34 families with autosomal recessive RP (ARRP) or related phenotypes were included in the study of which 25 families were consanguineous, and all families had 2‐4 affected offspring. Patients and family members were clinically evaluated and blood samples were collected for DNA extraction after obtaining consent. Microsatellite markers flanking 23 known candidate genes for retinal dystrophy were genotyped in available members of all families. Microstallite markers selected were located in a 5.0 cM interval of the candidate gene. Families in which homozygosity was present and specific for all affected members at a candidate gene locus were further screened for mutations in the relevant gene. Coding regions of the genes were amplified using exon‐specific primers and subjected to direct sequencing. Results Screening of 23 gene loci revealed homozygosity shared by affected individuals in 10 out of 34 families. Homozygosity was detected at 2‐6 informative markers at each locus. The candidate gene loci are: ABCA4 (1p22.1), RPE65 (1p31), CRB1 (1q31), CNGA1 (4p12), PDE6B (4p16.3), TULP1 (6p21.3), RP1 (8q12.1), RGR (10q23), NRL (14q11) and RLBP1 (15q26). Putative pathogenic sequence changes were found in the probands upon screening the TULP1, ABCA4 and RPE65 genes. Screening of other candidate genes is in progress. Conclusion This approach enabled a rapid preliminary screen of known loci in recessive RP and may be suitable for identifying the disease locus in small consanguineous families.
Ocular phenotype of CORD5, an autosomal dominant cone‐rod dystrophy associated with a Q626H mutation in the PITPNM3
Authors: REINIS A , GOLOVLEVA I , KÖHN L , SANDGREN O 
Published: September 2008

Abstract Purpose The aim of the study was to describe the phenotype of CORD5, an autosomal dominant retinal dystrophy with a mutation Q626H in the PITPNM3/Nir1 gene encoding the PITPNM3 protein. Methods The study included 33 individuals from two different families, all heterozygous for a Q626H mutation in the PITPNM3/Nir1 gene. Ophthalmological examination including kinetic perimetry, and in selected cases adaptometry, colour vision tests, OCT and electrophysiological studies were performed. In some case the data was obtained from medical records. Results A majority of patients presented symptoms with subnormal visual acuity and light sensitivity from childhood. Signs of macular degeneration were observed early as well. There was a progressive decrease of visual acuity leading to legal blindness in early adulthood in some cases. Electrophysiological testing showed a progressive loss of photoreceptor function restricted to the cones. There seems to be a difference regarding severity of clinical manifestations between the families. Conclusion Our observations and electrophysiological findings indicate a phenotype in CORD5 with loss of photoreceptor function restricted to the cones. An intra‐familial and inter‐familial difference regarding severity of clinical picture was noted.
Spectrum of TGFBI gene mutations among Polish patients with corneal dystrophies
Authors: OLDAK M , SZAFLIK JP , MAKSYM RB , KOIODZIEJSKA U , POLLAK A , PIOSKI R , SZAFLIK JP 
Published: September 2008

Abstract Purpose To report the clinical and molecular findings in Polish patients with stromal corneal dystrophies caused by TGFBI gene mutations. Methods Patients with clinically diagnosed granular (n=14; 9 unrelated families) and lattice (n=2; 2 unrelated families) corneal dystrophies participated in the study. Corneal phenotypes were assessed by slit lamp and confocal microscopy in vivo. Genomic DNA was obtained from blood samples and exons 4, 12‐14, known to contain mutation hot spots, were PCR amplified and sequenced on both strands. Results Molecular genetic testing revealed a heterozygous R555W (exon 12) mutation in eight (5 families) patients diagnosed with granular Groenouw type I corneal dystrophy. In one patient a heterozygous R124H mutation (Avellino corneal dystrophy, GCD type II) was found. In three families with “atypical granular” dystrophy affecting mainly the anterior stroma no mutation was detected in the analyzed regions. Heterozygous T538R (exon 12) and H626R (exon 14) mutations were identified, respectively, in two patients diagnosed with lattice corneal dystrophy. Conclusion Our results show that TGFBI gene mutations located in exons 4, 12 and 14 are frequently (8/11, 72%) found in Polish patients with corneal dystrophies of granular and lattice type. This indicates that a relatively straightforward molecular analysis can be a practical use in diagnosis of these conditions and associated genetic counseling.
Ophthalmic skills – Confidence and knowledge of recently graduated doctors
Authors: YEUNG AM , YEUNG JM , ASHRAF N , YEUNG TM 
Published: September 2008

Abstract Purpose Undergraduate medical education in ophthalmology is not standardized in the UK. The purpose of the study was to determine Foundation Year 1 Doctors (FY1) confidence in their own ophthalmic clinical knowledge and skills. Methods Questionnaires were distributed to FY1 at a University Hospital in the United Kingdom. A total of 15 questions were asked and topics ranged from self‐confidence in ophthalmic skills to ones regarding management of common ophthalmic conditions that present to an Accident and Emergency department. Results A total of 20 doctors completed the form. More FY1 felt more confident measuring visual fields (80%) than visual acuity (70%). Only one (5%) was confident in measuring pupillary reflexes. 85% felt that they were not confident in using an ophthalmoscope or needed practise. Even though most were confident in measuring visual fields and 90% could identify a homonymous hemianopia, only 15% could identify a valid cause. Safe management questions were answered poorly with less than 50% correct responses in most questions. 70% indicated an interest in more teaching on practical skills and clinical scenarios in ophthalmology. Conclusion There is a lack of confidence amongst FY1 in clinical skills and in particular with the use of the ophthalmoscope. The majority of FY1 questioned wanted more ophthalmology tuition.