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K Psilas

Publications and source records attributed to K Psilas.

At least 19 recordsLinked to original sources

A novel locus on 19q13 associated with autosomal-dominant macular dystrophy in a large Greek family.

OBJECTIVE: To describe the clinical features of and genetic locus associated with autosomal-dominant macular dystrophy (MCDR5) in a large Greek family. METHODS: 26 members of a single family underwent clinical examinations and venepuncture. A genomewide linkage scan using 400 microsatellite markers distributed with an average spacing of 10 cM throughout the human genome. RESULTS: 14 members of the study family exhibited clinical features of the disease including decreased central vision and macular abnormalities in the posterior pole of the retina. Analysis of loci known to be associated with macular dystrophy did not show positive linkage. A genomewide linkage scan showed linkage to chromosome 19q, with a two-point maximum LOD score of 5.809 at theta = 0 between the disease and marker locus D19S412. On the basis of recombination events, the disease interval was localised between markers D19S420 and D19S540 on chromosome 19q, at a span of about 3.8 cM, in an area known to contain 120 known genes/transcripts. Eleven of these genes/transcripts were sequenced, and no disease-causing mutation was identified. CONCLUSIONS: This study describes a new locus on 19q associated with autosomal-dominant macular dystrophy, designated as MCDR5. Additional study of other family members will be necessary to further narrow the interval and identify the responsible gene. The study of MCDR5 will aid in elucidation of the underlying pathogenic mechanisms for this and other macular diseases, including age-related macular degeneration.

Adolescent↗

Immunohistochemical study of angiogenesis and proliferative activity in epiretinal membranes.

Formation of epiretinal membranes (ERMs) is a serious complication of retinal diseases, the most important being proliferative diabetic retinopathy (PDR) and proliferative vitreoretinopathy (PVR). In this study, our goal was to (i) calculate the microvessel density (MVD), (ii) evaluate vascular endothelial growth factor (VEGF) expression and (iii) correlate angiogenesis with the proliferative activity as expressed by the expression of Ki67 marker, in both membrane types. We performed immunohistochemistry in 14 PVR and eight PDR membranes, using antibodies against CD34, VEGF, Ki67 and glial fibrillary acidic protein. PDR membranes presented higher average count of microvessels compared with PVR membranes (p = 0.0015). No differences were observed concerning VEGF expression (p = 0.1). The expression of Ki67 was not correlated with microvessel number or VEGF expression. Our study confirms the presence of vascularisation in PDR membranes, as well as the presence of VEGF even in avascular PVR membranes, suggesting that immunoreactivity for VEGF may not be accompanied by angiogenesis.

Cell Proliferation↗

Refining the primary open-angle glaucoma GLC1C region on chromosome 3 by haplotype analysis.

The GLC1C locus for primary open-angle glaucoma (POAG) is inherited as an autosomal dominant trait. This region on chromosome 3 is 11 cM long. DNA samples from members of a Greek and an American GLC1C family were obtained to determine whether additional typing of microsatellite markers in family members might narrow the region. GLC1C family members were evaluated clinically for POAG on the basis of open angles, intraocular pressures, cupping of discs, and visual fields. DNA samples from the Greek and Oregon GLC1C families were used to further refine the GLC1C region using microsatellite markers. A total of 22 affected members were identified in the two families. Common alleles for D3S3637 and D3S3612 were present in the disease haplotype from both families, suggesting that they may have a common founder. A newly diagnosed patient in the American family had a recombination in the distal portion of the GLC1C haplotype. This recombination narrows the GLC1C region from 11 to 4 cM.

Chromosome Mapping↗

Oral pilocarpine for the treatment of ocular symptoms in patients with Sjögren's syndrome: a randomised 12 week controlled study.

OBJECTIVE: To evaluate the efficacy and side effects of oral pilocarpine for the treatment of ocular symptoms in patients with primary Sjögren's syndrome (SS). METHODS: A 12 week, single centre, randomised controlled study was performed. Twenty nine patients were randomly assigned to receive oral pilocarpine (5 mg twice a day), 28 only artificial tears, and 28 inferior puncta occlusion. Patients receiving oral pilocarpine and those with inferior puncta occlusion also received artificial tears. Patients were evaluated at baseline and throughout the study for their subjective global assessment of dry eyes and for their objective assessment of dry eyes (Schirmer's-I test, rose bengal test, and imprint test). RESULTS: Patients taking oral pilocarpine had significant improvement in subjective global assessment of dry eyes, as was evaluated by improvement of >55 mm on a visual analogue scale (VAS) for responses to the eye questionnaire, compared with patients treated with artificial tears (p<0.001) and those with inferior puncta occlusion (p<0.05). Furthermore, patients receiving oral pilocarpine also showed greater objective improvement, as measured by the rose bengal test (p<0.05), while Schirmer's-I test showed no differences between the treated groups. Commonly reported adverse events were headache, increased sweating, nausea, and vomiting in the pilocarpine group, while one patient in the inferior puncta occlusion group had blepharitis and was withdrawn from the study. CONCLUSION: 10 mg of pilocarpine daily given to patients with SS for 12 weeks had a beneficial effect on subjective eye symptoms, as evaluated by improvement >55 mm on a VAS. Additionally, an improvement of rose bengal staining was noted, but an increase in tear production, as measured by the Schirmer-I test, was not substantiated.

Administration, Oral↗

Metabolic abnormalities in patients with primary open-angle glaucoma.

PURPOSE: Although there are few data on the underlying mechanisms of primary open-angle glaucoma (POAG), it has been suggested that metabolic diseases may play a role in the evolution of the disease. We carried out the present study to investigate the involvement of metabolic disturbances in POAG pathogenesis. MATERIAL/METHODS: Serum metabolic parameters were evaluated in 49 POAG patients without a known history of diabetes mellitus and 72 age and sex matched individuals without glaucoma (control group). RESULTS: Among the metabolic parameters examined, only fasting serum glucose and uric acid levels were found significantly higher in patients with glaucoma compared to the control population (117+/-17 mg/dl vs 105+/-11 mg/dl, p=0.05 and 6.2+/-1.9 mg/dl vs 5+/-1.2 mg/dl, p=0.006, respectively). Additionally, a considerably greater proportion of patients had disturbances of the carbohydrate metabolism and hyperuricemia. CONCLUSION: We conclude that disturbances of carbohydrate and uric acid metabolism could play a role in glaucoma damage and pathogenesis.

Aged↗

Presence and possible significance of immunohistochemically demonstrable metallothionein expression in pterygium versus pinguecula and normal conjunctiva.

PURPOSE: To investigate metallothionein (MT) expression in pterygium, pinguecula and normal conjunctiva and define its possible significance in this area of the eye. In order to further elucidate the mechanism of MT expression we correlated it with lymphocyte subpopulations (T4, T8), macrophages (CD68), Langerhans' cells (S100) and the proliferation-associated indices (PCNA, Ki67). METHODS: Eighty-five surgically excised pterygia, 15 pingueculae and 20 normal conjunctivae were immunohistochemically studied by the avidin-biotin (ABC) method. A monoclonal antibody (E9) against a conserved epitope of I and II isoforms of MT was used on formalin-fixed, paraffin-embedded tissues. Statistical analysis was performed using the SPSS statistical package. RESULTS: Epithelial MT expression was detected in all 120 cases examined and in most of them both nuclear and cytoplasmic immunoreactivity was present. Nevertheless no statistically significant difference of MT expression was found between the three types of tissue. A statistically significant positive correlation between MT expression and lymphocyte subsets, macrophages and Langerhans' cells was found in pterygium. On the contrary, we did not find any statistical correlation in pinguecula and normal conjunctiva. In all three types of tissues MT expression was also positively correlated with the proliferation-associated indices. CONCLUSION: The data suggest that there is immunohistochemically demonstrable MT expression in the epithelium of pterygium, but also of normal conjunctiva and pinguecula. MT may serve a photoprotective role in this region. In pterygium in particular, the biochemical pathway of MT synthesis seems interestingly to cross the pathways of cell proliferation, inflammation and immune activation.

Adult↗

Genetic linkage of autosomal dominant primary open angle glaucoma to chromosome 3q in a Greek pedigree.

A locus for juvenile onset open angle glaucoma (OAG) has been assigned to chromosome 1q in families with autosomal dominant inheritance (GLC1A), due to mutations in the TIGR/MYOC gene. For adult onset OAG, called primary open angle glaucoma or POAG, five loci have so far been mapped to different chromosomes (GLC1B-GLC1F). Except for the GLC1B locus, the other POAG loci have so far been reported only in single large pedigrees. We studied a large family identified in Epirus, Greece, segregating POAG in an autosomal dominant fashion. Clinical findings included increased cup to disc ratio (mean 0.7), characteristic glaucomatous changes in the visual field, and intraocular pressure before treatment more than 21 mmHg (mean 31 mmHg), with age at diagnosis 33 years and older. Linkage analysis was performed between the disease phenotype and microsatellite DNA polymorphisms. Linkage was established with a group of DNA markers located on chromosome 3q, where the GLC1C locus has previously been described in one large Oregon pedigree. A maximal multipoint lod score of 3.88 was obtained at marker D3S1763 (penetrance 80%). This represents the second POAG family linked to the GLC1C locus on chromosome 3q, and haplotype analysis in the two families suggests an independent origin of the genetic defect.

Adult↗

Ocular surface and environmental changes.

PURPOSE: To investigate if ocular surface and precorneal tear film are influenced by the environment. METHOD: We studied the environmental influences on the ocular surface using the tests Break-up time, Schirmer-1 test and Rose Bengal staining. We correlated the values of the above tests among three groups of normal people from different places in Greece with different climates and levels of atmospheric pollution. Group A consisted of 57 persons coming from an area with a dry and warm climate and heavy atmospheric pollution. Group B consisted of 55 normal persons coming from an area with a dry and warm climate and a low level of atmospheric pollution. Group C consisted of 55 persons coming from an area with a humid and cool climate and a low level of atmospheric pollution. RESULTS: Schirmer-1 test and Break-up time are influenced by the climatic conditions but they are not influenced by the atmospheric pollution, while Rose Bengal staining is not influenced either by the climate or by the atmospheric pollution. CONCLUSION: The precorneal tear film is much more influenced by the climatic conditions than by the atmospheric pollution.

Adolescent↗

What is straight ahead to a patient with torticollis?

Vestibular and neck proprioceptive signals are known to be used in judging the locations of objects in space and relative to the body. Given that these signals are asymmetric in patients with spasmodic torticollis, one would expect such patients to have abnormal spatial perception. We tested this idea by measuring patients' perception of visual straight ahead (VSA) under various conditions: with the body in its primary position, i.e. with the head and trunk as closely aligned as possible, and after well defined passive rotations of the head and/or trunk. In the primary body position, patients' VSA direction showed considerable variations which were similar, however, to those of normal subjects; it was independent of torticollis direction, of the head torque it produced, and of the weak spontaneous nystagmus recorded in seven of the 10 patients. After whole-body rotations, i.e. where head and trunk underwent the same motion, the VSA was shifted in both patients and normal subjects, and in both groups the shift was symmetrical after rotations to the right or left. After motions where the trunk rotated under the stationary head (neck proprioceptive stimulation) or the head on the stationary trunk (combined vestibular and neck stimulus), the VSAs of normal subjects coincided rather well with their head midsagittal planes, whereas the VSAs of patients were shifted considerably towards the trunk, again in a symmetrical way. We suggest two mechanisms to explain the findings in patients: (i) a central compensation which restores symmetry of the afferent inflow in the patients (unlike the motor efference); (ii) shifting of the reference for the VSA from the head towards the trunk, because the trunk is a more reliable egocentric reference than the head in the patients. Our findings do not support the assumption that asymmetries in afferent inflow are responsible for the asymmetry of motor output in spasmodic torticollis.

Adult↗

Abnormalities of ocular motility in myotonic dystrophy.

Are the oculomotor disturbances in myotonic dystrophy (MD), i.e. reduced smooth pursuit (SP) gain and reduced saccadic peak velocity (PV), of muscular or central origin? To answer this question the following two approaches were used. (i) The performance of SP was compared with the patient's ability to suppress the vestibulo-ocular reflex (VOR) visually (VOR suppression; VOR-S). In the latter task the SP system is involved, but the eyes hardly move within the orbits. A parallel impairment of SP and VOR-S would indicate a central dysfunction. (ii) Peak saccadic velocity was compared between two saccades performed to and fro in rapid succession. The intention was to measure any myotonic effect which might build up after the first saccade and slow down the second saccade. We studied 15 MD patients and 15 age-matched controls. Stimuli for slow eye responses consisted of sinusoidal horizontal rotations of the SP target and/or the vestibular rotation chair at frequencies between 0.1 and 0.8 Hz. Saccades were analysed in terms of PV. accuracy, duration and latency, comparing centripetal versus centrifugal saccades at short and long intersaccadic intervals (ISI; 400 ms and 900 ms, respectively). The SP gain was reduced in patients compared with the controls, the effect being most pronounced (32% less) at the highest stimulus frequency. Whereas VOR was normal in the patients, VOR-S was clearly impaired (50% worse at 0.8 Hz). Despite normal saccadic accuracy, peak saccadic velocity was significantly lower in the patient group (23% less for saccades of 12 degrees amplitude), similarly for centrifugal and centripetal saccades; all these differences were independent of the ISI. Latency was normal with centrifugal saccades, but was considerably increased with centripetal saccades at short ISI (67% longer compared with controls). The observation of a parallel degradation of SP and VOR-S in the patients is interpreted in terms of a central deficit in the SP pathways. Thus, it appears that slow eye movements were not impaired by muscle dystrophy and myotonia to a considerable degree in our patients. The increase in saccadic latency for centripetal saccades at the short ISI also reflects a central deficit. However, the observed slowing of saccades might have a myopathic or neural origin; a distinction was not possible at present. A myotonic origin of the saccade slowing seems unlikely, because the effect was independent of the presaccadic activation of the relaxing (antagonistic) eye muscle.

Adolescent↗

Exclusion of one pedigree affected by adult onset primary open angle glaucoma from linkage to the juvenile glaucoma locus on chromosome 1q21-q31.

A locus for autosomal dominant juvenile onset primary open angle glaucoma (POAG) was recently assigned to chromosome region 1q21-q31. In the present study, a large Greek family with autosomal dominant adult onset POAG was investigated using microsatellite markers. Exclusion of linkage of the adult onset POAG gene to the region D1S194-D1S191 was obtained in this pedigree. Therefore, the data provide evidence that juvenile and adult onset POAG are genetically distinct disease entities.

Adult↗

Long-term visual results after laser photocoagulation for diabetic maculopathy.

A study was performed to determine the long-term visual results after laser photocoagulation in diabetic maculopathy. One hundred and four eyes of 56 diabetic patients underwent modified grid laser photocoagulation for diabetic maculopathy according to the protocol of the European Study Group on Diabetic Eye Complications and the Early Treatment Diabetic Retinopathy Study. Follow-up ranged from 12 months to 2.5 years. Eyes with visual acuity less than 0.2 before treatment were included in group A, those with visual aquity of 0.3-0.6 in group B and eyes with visual acuity more than 0.7 were included in group C. At 1 year, 79.4% of the eyes of group A improved or preserved their visual acuity, with 38.9% of group B and 88.2% of group C; at 2 years, 86.6% of group A, 30% of group B and 66.7% of group C and at 2.5 years 85.7% of group A, 27.3% of group B and 75% of group C improved or preserved their visual acuity. The percentages of positive results concerning the visual acuity for groups A and C were significantly greater compared with those for group B. These results suggest that modified grid laser photocoagulation for the management of diabetic maculopathy is an effective procedure in 'early treated' eyes (visual aquity > or = 0.7). It contributes to improve a little or to preserve low vision but it did not affect the natural course of disease in the rest of the eyes.

Aged↗

Juvenile open-angle glaucoma: a report of a pedigree.

Six patients with juvenile open-angle glaucoma have been studied clinically and genetically in a family pedigree consisting of 17 members. This study revealed that juvenile open-angle glaucoma has an autosomal dominant mode of inheritance and the detected patients showed incipient to severe disturbances of visual function.

Adolescent↗

Panretinal cryopexy for the management of neovascularization of the iris.

Panretinal cryopexy was used for the treatment of 15 eyes with neovascularization of the anterior segment, treated with panretinal photocoagulation in the past. The eyes were classified preoperatively according to grade of neovascularization of the iris and anterior chamber angle using Weiss' and Gold's device system. Four eyes had rubeosis iridis with normal intraocular pressure and 11 had neovascular glaucoma. Rubeosis was secondary to proliferative diabetic retinopathy and/or central retinal vein occlusion. Nine eyes with grade 0, I and II neovascularization showed regression of neovascularization and controlled intraocular pressure. Six eyes with grade IV showed regression of neovascularization but uncontrolled intraocular pressure. All those eyes presented extensive peripheral anterior synechias.

Aged↗

HLA-DR antigen expression in pterygium epithelial cells and lymphocyte subpopulations: an immunohistochemistry study.

The purpose of our study was to investigate the role of immune mechanisms in the pathogenesis of pterygium using an immunohistochemical technique. Our material consisted of 35 surgically excised pterygia and 7 samples of normal conjunctiva obtained from an equal number of patients. HLA-DR antigen expression in epithelial cells, B-cells, suppressor and helper lymphocytes, Langerhans' cells, and monocytes/macrophages were studied immunohistochemically in frozen sections using anti-human HLA-DR, anti-CD22, anti-CD8, anti-CD4, anti-CD1a, and anti-LeuM5 monoclonal antibodies. Aberrant HLA-DR antigen expression in epithelial cells was detected in 30 of 35 cases of pterygium. Epithelial cells in samples of normal conjunctiva were found to be negative in HLA-DR antigen expression. HLA-DR antigen expression in pterygium was found to be closely related to the density of T4 cells and, especially, of CD4 lymphocytes. The present findings suggest that an immunopathologic mechanism plays a role in the pathogenesis of pterygium.

Antibodies, Monoclonal↗

Factors influencing the accuracy of the SRK formula in the intraocular less power calculation.

Several intraocular lens (IOL) power calculation formulas (either theoretical or empirical) are used to determine the emmetropic IOL power) The Sanders-Retzlaff-Kraff (SRK) linear regression formula is among the most widely recognized empirical ones. In the present study intraocular lens power calculation aiming at emmetropia was performed, using SRK formula, in 145 cataractous eyes undergoing lens implantation. The final refraction was evaluated at 8 to 12 months after surgery. The purpose of this study was the identification and quantitative evaluation of the factors which influence significantly the accuracy of SRK in the intraocular lens power calculation. The following factors were studied: (1) the error in preoperative biometry with regard to the difference between post and preoperative axial length measurements, (2) the position of the implantation of the intraocular lens (anterior versus posterior chamber), (3) the intraocular lens style, (4) the intraocular lens power level, (5) the preoperative corneal astigmatism, (6) the surgically induced corneal astigmatism, and (7) the postoperative astigmatism. Multiple regression and stepwise regression analysis showed a strong correlation (R2 = 0.65; p < 0.001) between postoperative refractive error (Rf) and error in preoperative biometry (delta AL), surgically induced corneal astigmatism (SIA) and postoperative astigmatism (Ap) only. This correlation is expressed by the following equation: Rf = 0.07 -2.55 delta AL -0.42 SIA + 0.34 Ap. This equation indicates the quantitative effect of each factor on the accuracy of the SRK formula, by defining the pattern of the fluctuations of the amount or state (myopic or hyperopic) of refractive error induced by changes of variables delta AL, SIA and Ap.

Aged↗