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Cataract
Kinds of Cataract Terms modified by Cataract Selected AbstractsCongenital Cataract and Heart Septal Defects: Are Contiguous or Reciprocally Influenced Genes Involved?CONGENITAL HEART DISEASE, Issue 3 2009Sebastiano Bianca MD No abstract is available for this article. [source] Effects of aminoguanidine and tolrestat on the development of ocular and renal structural changes in experimental diabetic ratsDIABETES OBESITY & METABOLISM, Issue 1 2002Ö. Azal Studies that researched the role of aminoguanidine and tolestat in the prevention of diabetic retinopathy and nephropathy resulted in conflicting data. We investigated the effects of these agents in the prevention of ocular and renal changes in streptozotocin (STZ)-induced diabetic rats. Diabetes was induced by intravenous injection of STZ in 30 rats. Ten rats that were not given STZ served as non-diabetic control (Group 1). Ten STZ-diabetic rats that were not given any treatment served as diabetic control (Group 2). Groups 3 and 4 were composed of STZ-induced diabetic rats (10 each) that were given tolrestat and aminoguanidine respectively. Eyes and kidneys were examined at the 24th week under electronmicroscopy. Cataract was observed in all six of the surviving rats in Groups 2 and 4, and in one of 6 surviving rats in group 3. Cataract development was lower in Group 3 than Groups 2 and 4. All retinal samples obtained from group 2 demonstrated a number of structural abnormalities, whereas there were no significant ultrastructural changes in groups 3 and 4. Groups 2 and 3 demonstrated mesangial proliferation and expansion, diffuse glomerular basement membrane (GBM) thickening, and focal GBM thickening in the bulb form. Group 4 demonstrated a normally appearing mesangial space, minimal diffuse but no focal GBM thickening. The urinary albumin excretion (UAE) was lower in Group 4 than the other groups. In conclusion, our results suggest that aminoguanidine may be an important agent for the prevention of renal changes, whereas tolrestat may be effective for the prevention of ocular changes in diabetes mellitus. [source] Posterior Subcapsular Cataract and Hip FractureJOURNAL OF AMERICAN GERIATRICS SOCIETY, Issue 4 2004Yohannes W. Endeshaw MD No abstract is available for this article. [source] Measurement of Lens Protein Aggregation in Vivo Using Dynamic Light Scattering in a Guinea Pig/UVA Model for Nuclear CataractPHOTOCHEMISTRY & PHOTOBIOLOGY, Issue 6 2008M. Francis Simpanya The role of UVA radiation in the formation of human nuclear cataract is not well understood. We have previously shown that exposing guinea pigs for 5 months to a chronic low level of UVA light produces increased lens nuclear light scattering and elevated levels of protein disulfide. Here we have used the technique of dynamic light scattering (DLS) to investigate lens protein aggregation in vivo in the guinea pig/UVA model. DLS size distribution analysis conducted at the same location in the lens nucleus of control and UVA-irradiated animals showed a 28% reduction in intensity of small diameter proteins in experimental lenses compared with controls (P < 0.05). In addition, large diameter proteins in UVA-exposed lens nuclei increased five-fold in intensity compared to controls (P < 0.05). The UVA-induced increase in apparent size of lens nuclear small diameter proteins was three-fold (P < 0.01), and the size of large diameter aggregates was more than four-fold in experimental lenses compared with controls. The diameter of crystallin aggregates in the UVA-irradiated lens nucleus was estimated to be 350 nm, a size able to scatter light. No significant changes in protein size were detected in the anterior cortex of UVA-irradiated lenses. It is presumed that the presence of a UVA chromophore in the guinea pig lens (NADPH bound to zeta crystallin), as well as traces of oxygen, contributed to UVA-induced crystallin aggregation. The results indicate a potentially harmful role for UVA light in the lens nucleus. A similar process of UVA-irradiated protein aggregation may take place in the older human lens nucleus, accelerating the formation of human nuclear cataract. [source] Prevalence and causes of visual impairment in a rural North-east China adult population: a population-based survey in Bin County, HarbinACTA OPHTHALMOLOGICA, Issue 6 2010Wulian Song Acta Ophthalmol. 2010: 88: 669,674 Abstract. Purpose:, To investigate the prevalence and causes of visual impairment in a rural population in north-east China. Methods:, A population-based study was conducted within Bin County, Harbin of north-east China. Low vision and blindness were defined using the World Health Organization categories of visual impairment. The prevalence of visual impairment was estimated, and causes were identified based on best-corrected visual acuity (BCVA) as well as presenting visual acuity (VA). Results:, Out of 5764 people, 4956 (86.01%) aged older than 40 participated in the study. The prevalence of visual impairment, low vision and blindness based on presenting VA was 9.6% (BCVA, 6.6%), 7.7% (BCVA, 4.9%) and 1.9% (BCVA, 1.7%), respectively. Taking the presenting VA, cataract (44%) was the most common cause for visual impairment followed by uncorrected refractive error (24%), treatable causes of visual impairment accounted for 68% of the total cases. Cataract (59%) and glaucoma (15%) were leading causes for blindness based on presenting VA. According to BCVA, cataract was the leading cause of visual impairment and blindness (58% and 60%, respectively), followed by glaucoma (17% and 15%, respectively). The prevalence of visual impairment was higher among women than men (p < 0.0001) and increasing with age (p < 0.0001) and decreasing with increasing education level (p = 0.0075). Conclusion:, Visual impairment was a serious public health problem in this rural population, with most of it easily remedied. Results highlighted the need for visual impairment prevention programs to an increasing number of elderly people, with a special emphasis on female and those with little or no education. [source] 1315: Cataract, refractive and glaucoma surgery: anterior eye segment photo, clinical details, TD OCT, SD OCT and SS OCT scans, diagnosis and conclusionACTA OPHTHALMOLOGICA, Issue 2010D JANISZEWSKA [source] 3143: Management of iris melanomas with 125 iodine plaque radiotherapyACTA OPHTHALMOLOGICA, Issue 2010BF FERNANDES Purpose The experience with 125Iodine (I125) plaque brachytherapy in the treatment of IM at the Princess Margaret Hospital/University Health Network is the subject of the report to follow. Methods All cases of IM submitted to I125 plaque radiotherapy were included. Patients' demographic, clinical, management, and follow-up data were reviewed. Outcome measures included rates of tumor control, eye preservation, systemic metastases, and brachytherapy-related complications. Results Fourteen IMs were included in the study. All patients had blue/green irises. Mean largest basal dimension and thickness were 7.1 +/- 2.1 mm (range, 4.0 to 11.5 mm) and 2.2 +/- 0.8 mm (range, 1.0 to 3.5 mm), respectively. Ten patients (71%) had seeding and 2 (14%) had glaucoma at presentation. Median follow-up was 26.6 +/- 19.5 months (range, 6 to 72 months). Tumor control was achieved in 100% of the cases and no eye was enucleated because of radiation-induced complications. At last visit, all patients were alive and free of metastasis. Final visual acuity was the same as or better than before treatment in 9 patients (75%). Cataract was the most common complication (8; 75%), followed by persistent glaucoma (2; 17%) and anterior uveitis (1; 8%). No other significant complication was seen during the follow-up period. Conclusion Plaque radiotherapy is a safe and effective conservative treatment option for IM, although cataract is a common, yet treatable, complication. This treatment scheme circumvents an intraocular procedure and may avoid the dissemination of malignant cells, and provides a margin of safety in the treatment of clinically undetectable disease. [source] Prevalence of major eye diseases and causes of visual impairment in the adult Finnish population: a nationwide population-based surveyACTA OPHTHALMOLOGICA, Issue 4 2010Arja Laitinen Abstract. Purpose:, To estimate the prevalence of cataract, glaucoma, age-related maculopathy (ARM) and diabetic retinopathy (DR) in the adult Finnish population. Methods:, A representative cross-sectional sample of the Finnish population aged 30 years and older. Of the 7979 eligible people, 7413 (93%) were interviewed and/or examined. The interview included self-reported doctor-made diagnoses of cataract, glaucoma, degenerative fundus changes (mainly ARM) or DR. Information on self-reported eye diseases was complemented with data from national registers, and case records were gathered for non-participants and persons with visual acuity (VA) < 0.5 or reporting difficulties in vision or eye diseases without assessed VA. Results:, Based on self-reported and/or register-based data the estimated total prevalences of cataract, glaucoma, ARM and DR in the study population were 10%, 5%, 4% and 1%, respectively. All these chronic eye diseases increased with age (p < 0.001). The corresponding prevalences for persons aged 65 and older were 34%, 13%, 12% and 2%, respectively. Cataract and glaucoma were more common in women than in men [odds ratio (OR) 1.55, 95% confidence interval (CI) 1.26,1.91; OR 1.57, 95% CI 1.24,1.98, respectively]. The most prevalent eye diseases in people with visual impairment (VA , 0.25) were ARM (37%), unoperated cataract (27%), glaucoma (22%) and DR (7%). Conclusion:, The high prevalence of these mainly age-related eye diseases, together with increasing life expectancy, mean that continuous efforts are needed to identify and treat eye diseases in order to maintain patients' quality of life and to alleviate the social and economic burden of serious eye diseases. [source] Rarebit perimetry and fovea test before and after cataract surgeryACTA OPHTHALMOLOGICA, Issue 4 2010Maria Nilsson ABSTRACT. Purpose:, To evaluate the effect of cataract on rarebit perimetry and the fovea test. Methods:, Twenty-five consecutive patients scheduled for cataract surgery (mean age 63.0 ± 7.9 years) were examined prior to and after cataract surgery with a complete ophthalmological examination. In addition, the rarebit perimetry (RBP) and the rarebit fovea test (RFT) were performed. Results:, Best-corrected visual acuity [BCVA, expressed in minimum angle of resolution (MAR)], RBP and RFT mean hit rate (MHR) improved significantly after cataract surgery. The relative pre,postsurgery difference was larger in the RFT [2.1 standard deviations (SDs)] compared to in BCVA (0.78 SDs). Seven patients had good BCVA (, 1.25) and RBP (83,99%) but low RFT (0,66%) before surgery. One patient with low preoperative BCVA (2.5) had a normal RFT (94%). Conclusion:, Cataract influenced both the RFT and RBP test, albeit the former more than the latter. The influence of cataract on RFT results, even when visual acuity is decreased only moderately, has to be taken into account when evaluating foveal function in patients with cataract. The larger relative change in RFT compared to BCVA values is thought to indicate that RFT is more sensitive for the effect of cataract. Therefore, RFT appears to be a sensitive test for visual disturbance and can presumably provide additional information at the preoperative evaluation of the patient. [source] Coenzyme Q10 prevents human lens epithelial cells from light-induced apoptotic cell death by reducing oxidative stress and stabilizing BAX,/,Bcl-2 ratioACTA OPHTHALMOLOGICA, Issue 3 2010Marcus Kernt Abstract. Background:, Cataract is one of the most prevalent eye disease and a major cause for legal blindness in the world. Beside others, cumulative light-exposure and apoptotic cell death are significantly associated with cataract development. In contrast, supplementation with antioxidants has been suggested to prevent premature cataractogenesis. This study investigates possible protective effects of Coenzyme Q10 (CoQ10) regarding light-induced stress and apoptotic cell death in human lens epithelial cells (LEC). Methods:, Human LEC were either pre-incubated with CoQ10 or not and then exposed to white light. After 10,40 min of irradiation viability, induction of intracellular reactive oxygen species (ROS), apoptosis and cell death was determined. Expression of apoptotic BAX and anti-apoptotic Bcl-2 protein and their mRNA were determined by RT-PCR and Western blot analysis. Results:, Light exposure decreased LEC viability and Bcl-2 expression and increased intracellular ROS, apoptotic cell death, and BAX expression in a time-of-irradiation-dependent manner. Phototoxic cell death and apoptosis, as well as decrease of Bcl-2 and increase in BAX expression was significantly reduced, when cells were pre-incubated with CoQ10. Conclusions:, In this study, CoQ10 significantly reduced light-induced LEC-damage and attenuated phototoxic effects on BAX and Bcl-2 expression. Therefore, CoQ10 supplementation might also be useful in preventing LEC death and consecutive cataract formation in vivo. [source] Early cortical lens opacities: a short overviewACTA OPHTHALMOLOGICA, Issue 6 2009Gijs F.J.M. Vrensen Abstract. Cataract is still the dominant cause of blindness worldwide. Cortical cataract is the most prevalent of the age-related changes in the human lenses that require surgical intervention to restore vision. The absence of adequate cataract surgery in most developing countries is the main cause of the high prevalence of cataract blindness worldwide. Lens ageing is accompanied by dramatic increases in stiffness, light scattering and coloration of the lens nucleus. These changes start to become manifest as early as the fourth or fifth decade of life and lead to nuclear cataract in old age. In the same period the equatorial deep lens cortex starts to show small opaque shades, which eventually grow out to segmental and annular opacities. These opaque shades are filled with small vesicles and contain abnormal amounts of cross-linked proteins, cholesterol and phospholipids. They are bordered by membranes that are rich in square arrays, have ,degenerate' gap junctions and have few intramembranous particles. It has been shown that the opaque shades represent cohorts of locally affected fibres segregated from unaffected neighbouring fibres by ,non-leaky' membranes. This segregation is an effective mechanism delaying the outgrowth of these opacities to cuneiform cataracts entering the pupillary space and thus leading to blinding cortical cataracts. Although cataract formation is mostly considered to be a multi-factorial disease, oxidative stress might be one of the leading causes for both nuclear and cortical cataract. In cortical cataracts shear stress between cortex and nucleus during accommodation may also play a significant role. [source] Cataract, loss of visual acuity, infection after trabeculectomyACTA OPHTHALMOLOGICA, Issue 2009AM BRON Purpose Trabeculectomy is the most popular surgery for glaucoma, however some complications may impair the success of the procedure. Moreover without impacting the overall efficacy of trabeculectomy, the quality of life of the patients could be affected in a certain number of cases. Methods In this session we will give some tips to prevent and to treat these complications. Results Cataract is frequent after trabeculectomy and is mainly related to postoperative hypotony. In most recent clinical studies cataract has been shown to occur in half of the eyes 3 years after trabeculectomy. This has led H Jampel to write a provocative editorial; Trabeculectomy: more effective at causing cataract surgery than lowering intraocular pressure (Ophthalmology 2009;116:173-174). In advanced cases, severe sight-threatening complications such as the wipe-out syndrome, even uncommon may definitely lead the patient to blindness. The two more frequent presentations of infection after trabeculectomy are blebitis and endophthalmitis. Both can occur several years after trabeculectomy and Streptococci which are frequently found are devastating strains. Antimetabolites greatly increase the prevalence of endophthalmitis after trabeculectomy. Other less severe complications such as bleb dysesthesia may alter the quality of life of the patients. Conclusion The information of the patients and the quality of the follow-up are of paramount importance when a trabeculectomy is considered. [source] Longterm visual prognosis in Usher syndrome types 1 and 2ACTA OPHTHALMOLOGICA, Issue 4 2006André M. Sadeghi Abstract. Purpose:, To estimate the age at diagnosis of retinitis pigmentosa and to determine visual acuity deterioration, visual field impairment and the frequency of cataracts in Usher syndrome types 1 and 2. Methods:, We carried out a retrospective study of 328 affected subjects with Usher syndrome types 1 and 2. Study subjects were divided into seven different age groups by decade. Data were analysed using descriptive statistics, general linear model anova and survival analysis. Results:, Retinitis pigmentosa was diagnosed significantly earlier in subjects with Usher syndrome type 1 than in those with type 2. Visual acuity was significantly more impaired in affected subjects with Usher syndrome type 1 than in those with type 2 from 50 years of age onwards. Survival analysis revealed a significant difference in visual field loss (, 10 degrees) between the two groups, with type 2 subjects tending to be more impaired, while comparison indicated no significant differences between the groups in any of the other visual field categories. Cataract was found to be generally more common in Usher syndrome type 1 than type 2. Conclusions:, Progressive loss of visual acuity and visual field begins to be substantial between the second and third decades of life in both Usher types. The rate of degeneration varies between individuals in both groups. The data are useful for the counselling of affected subjects with Usher syndrome types 1 and 2. [source] Visual outcomes following vitrectomy and peeling of epiretinal membraneCLINICAL & EXPERIMENTAL OPHTHALMOLOGY, Issue 4 2005James G Wong MMed Abstract Background:, Visual outcomes of patients following vitrectomy and peeling of visually significant epiretinal membranes were assessed to determine the influence of specific perioperative factors and surgical complications on final visual acuity and functional vision. Methods:, In an unmatched, consecutive surgical series, vitrectomy and membrane peeling were performed on 125 eyes of 123 patients with visually significant macular epiretinal membranes. Patients were followed for 6,36 months. Visual outcome measures included postoperative logMAR visual acuity, change in visual acuity and functional vision tasks evaluated by questionnaire. Perioperative factors including duration of symptoms, preoperative visual acuity, aetiology, membrane type and leakage on fundal fluorescein angiogram were correlated with final visual outcomes. Results:, Visual acuity improved by a mean of 0.31 ± 0.21 units (three lines of vision). In 104 cases (83%), visual acuity improved in patients by two lines or more, with 20 cases (16%) having unchanged acuity and one case (1%) having worse acuity. Ninety-three per cent of interviewed cases reported improvement in functional vision, especially reduction of distortion. Cataract was observed in 52 cases (52% of phakic eyes) postoperatively compared with 19 cases (19%) preoperatively. Postoperative visual acuity correlated with preoperative visual acuity. Patients with worse preoperative vision recorded greater visual improvement following surgery. No other perioperative factors were found to have a prognostic value in this study. Conclusion:, Epiretinal membrane peeling improves vision in the majority of patients with significant symptoms, even if preoperative visual acuity is not substantially reduced. Surgery improves functional vision including metamorphopsia not measurable by visual acuity, and thus assessment of functional vision should be included in surgical case planning. [source] Methods for detecting age-related maculopathy: a comparison between photographic and clinical assessmentCLINICAL & EXPERIMENTAL OPHTHALMOLOGY, Issue 5 2000Gabriella Tikellis GradDip ABSTRACT Purpose: To examine the sensitivity, specificity and overall agreement between photographic and clinical assessment in detecting age-related maculopathy (ARM) features in the context of an epidemiological study, the Vitamin E, Cataract and Age-related Maculopathy Study (VECAT). Methods: A total of 1204 volunteers aged between 55 and 80 years of age, who were enrolled in the VECAT Study, had both slit-lamp biomicroscopy examination and fundus photos taken as part of the baseline ophthalmic examination. The Nidek 3-DX fundus camera (Nidek, Gamagori, Japan) was used to produce paired, one-framed, coloured, 15° stereoslides of the macular area at a fixed angle. An International Classification and Grading System for Age-related Maculopathy and Age-related Macular Degeneration was used to grade the stereoslides. Agreement in the detection of drusen, pigment abnormalities, and late stage ARM features was assessed using unweighted kappa statistic. Cases of disagreement were verified using clinical data records, grading documentation and the review of stereoslides. Results: Macula status was available for 2386 eyes. For drusen of size < 63 ,m, sensitivity was 47%, specificity was 68% with a kappa value of 0.20. For drusen , 125 ,m, sensitivity and specificity were , 81%. Kappa values ranged from 0.56 to 0.71. Levels of agreement for pigment abnormalities and late ARM were in the substantial range (i.e. kappa values from 0.70 to 1.00). Conclusions: Slit-lamp biomicroscopy was found to be comparable to photograding (using the Nidek 3-DX fundus camera) for detecting features pertaining to ARM. However, given the objectivity and permanency of stereoslides, photograding is still the more reliable and the preferred system of assessing ARM in the context of an epidemiological study. [source] Operated and unoperated cataract in AustraliaCLINICAL & EXPERIMENTAL OPHTHALMOLOGY, Issue 2 2000Catherine A McCarty PhD MPH ABSTRACT Purpose: To quantify the prevalence of cataract, the outcomes of cataract surgery and the factors related to unoperated cataract in Australia. Methods: Participants were recruited from the Visual Impairment Project: a cluster, stratified sample of more than 5000 Victorians aged 40 years and over. At examination sites interviews, clinical examinations and lens photography were performed. Cataract was defined in participants who had: had previous cataract surgery, cortical cataract greater than 4/16, nuclear greater than Wilmer standard 2, or posterior subcapsular greater than 1 mm 2. Results: The participant group comprised 3271 Melbourne residents, 403 Melbourne nursing home residents and 1473 rural residents. The weighted rate of any cataract in Victoria was 21.5%. The overall weighted rate of prior cataract surgery was 3.79%. Two hundred and forty-nine eyes had had prior cataract surgery. Of these 249 procedures, 49 (20%) were aphakic, 6 (2.4%) had anterior chamber intraocular lenses and 194 (78%) had posterior chamber intraocular lenses. Two hundred and eleven of these operated eyes (85%) had best-corrected visual acuity of 6/12 or better, the legal requirement for a driver's license. Twenty-seven (11%) had visual acuity of less than 6/18 (moderate vision impairment). Complications of cataract surgery caused reduced vision in four of the 27 eyes (15%), or 1.9% of operated eyes. Three of these four eyes had undergone intracapsular cataract extraction and the fourth eye had an opaque posterior capsule. No one had bilateral vision impairment as a result of cataract surgery. Surprisingly, no particular demographic factors (such as age, gender, rural residence, occupation, employment status, health insurance status, ethnicity) were related to the presence of unoperated cataract. Conclusions: Although the overall prevalence of cataract is quite high, no particular subgroup is systematically under-serviced in terms of cataract surgery. Overall, the results of cataract surgery are very good, with the majority of eyes achieving driving vision following cataract extraction. [source] Cataracts in experimentally diabetic mouse: morphological and apoptotic changesDIABETES OBESITY & METABOLISM, Issue 2 2005K. R. Hegde Aim:, The objective of these investigations was to extend our earlier study on the induction of cataracts in diabetic mice, a low aldose reductase (AR) animal model at morphological level. Previous studies were done primarily at biochemical level. Methods:, Diabetes was induced by intraperitoneal administration of streptozotocin. The lenses isolated after the establishment of diabetes were then subjected to histologic and electron microscopic studies. Results:, Morphological alterations were characterized by shrinkage, elongation and lobulization of the nuclei of the epithelial cells. This was associated with chromatin condensation and its margination. Similar structural aberrations were also observed in a significant number of the subepithelial fibre cells representing defect in fibre maturation. More interestingly, unlike that in other common animal models of diabetic cataract, such abnormally nucleated cells were also found to be prevalent in the posterior subcapsular region, a finding common in human diabetics also. Conclusion:, The present studies further affirm the suitability of the mouse model for a study of cataractogenesis induced by diabetes. Because of the findings reported herein, as well as the known biochemical similarity between the lenses of the mice and humans in respect of AR deficiency, contrary to the rat model where it is very high, use of this species is considered more useful towards understanding the basic aetiology as well as for evaluating the efficacy of various referred nutritional and metabolic antioxidants against such cataracts. [source] Macular oedema with associated uveitis and cataract following presentation of Type 1 diabetes mellitus in severe ketoacidosisDIABETIC MEDICINE, Issue 4 2000D. Gordon Abstract We present a case of cystoid macular oedema presenting in a newly diagnosed diabetic teenager. She had developed anterior uveitis prior to diabetes and whether this contributed to the subsequent ocular complications remains speculative. The macular changes resolved spontaneously over 6 months without the use of grid laser photocoagulation. [source] Granulocyte function in patients with L-ferritin iron-responsive element (IRE) 39C,T-positive hereditary hyperferritinaemia,cataract syndromeEUROPEAN JOURNAL OF CLINICAL INVESTIGATION, Issue 10 2004R. Fritsche-Polanz Abstract Background, Hereditary hyperferritinaemia,cataract syndrome (HHCS) is an autosomal dominant trait associated with mutations in the iron responsive element (IRE) of the ferritin light-chain (L-ferritin) gene. Patients typically show elevated serum ferritin concentrations without iron overload and a bilateral cataract. Hyperferritinaemia can be associated with granulocyte dysfunction in patients with thalassemia beta and in haemodialysis patients. The effect of increased L-ferritin levels on granulocyte function in patients with HHCS is unknown. Material and methods, We examined glucose uptake, oxidative burst, chemotaxis, phagocytosis, apoptosis and intracellular calcium concentrations in polymorphonuclear leucocytes (PMNLs) of five affected members of a family with HHCS and in five healthy individuals matched for age and gender. Results, Mutation testing revealed a 39C,T transition in IRE in all five patients with HHCS. Serum ferritin levels of patients ranged between 907 and 2030 µg L,1, respectively. In comparison with healthy individuals, PMNLs of patients with HHCS showed a significant increase in PMA-mediated stimulation of the oxidative burst, as well as a significantly higher stimulation of glucose uptake but no difference with respect to chemotaxis, phagocytosis, apoptosis and intracellular calcium concentrations. Conclusion, In summary, our study suggests that hyperferritinaemia in patients with IRE 39C,T-positive HHCS is associated with activation of PMNLs but not with disturbance of fundamental PMNL function. [source] MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotypeEUROPEAN JOURNAL OF HAEMATOLOGY, Issue 4 2010Alessandro Pecci Abstract MYH9 -related disease (MYH9 -RD) is a rare autosomal dominant disorder caused by mutations in MYH9, the gene encoding the heavy chain of non-muscle myosin IIA. All patients present congenital macrothrombocytopenia and inclusion bodies in neutrophils. Some of them can also develop sensorineural deafness, presenile cataract, and/or progressive nephropathy leading to end-stage renal failure. We report four families, each with a novel mutation: two missense mutations, in exons 31 and 32, and two out of frame deletions in exon 40. They were associated with no bleeding diathesis, normal, or only slightly reduced platelet count and no extra-hematological manifestations, confirming that alterations of the tail domain cause a mild form of MYH9 -RD with no clinically relevant defects. [source] Ocular complications of neurological therapyEUROPEAN JOURNAL OF NEUROLOGY, Issue 7 2005S. Hadjikoutis Treatments used for several neurological conditions may adversely affect the eye. Vigabatrin-related retinal toxicity leads to a visual field defect. Optic neuropathy may result from ethambutol and isoniazid, and from radiation therapy. Posterior subcapsular cataract is associated with systemic corticosteroids. Transient refractive error changes may follow treatment with acetazolamide or topiramate, and corneal deposits and keratitis with amandatine. Intraocular pressure can be elevated in susceptible individuals by anticholinergic drugs, including oxybutynin, tolterodine, benzhexol, propantheline, atropine and amitriptyline, and also by systemic corticosteroids and by topiramate. Nystagmus, diplopia and extraocular muscle palsies can occur with antiepileptic drugs, particularly phenytoin and carbamazepine. Ocular neuromyotonia can follow parasellar radiation. Congenital ocular malformations can result from in utero exposure to maternally prescribed sodium valproate, phenytoin and carbamazepine. Neurologists must be aware of potential ocular toxicity of these drugs, and appropriately monitor for potential adverse events. [source] Myotonic dystrophy type 2EUROPEAN JOURNAL OF NEUROLOGY, Issue 5 2002J. Finsterer Myotonic dystrophy type 2 (DM2) is a clinically but not genetically heterogeneous, multisystem disorder, that is clinically similar to, but distinct from myotonic dystrophy type 1 (DM1). Initially, different phenotypes of DM2 were described by Ricker (proximal myotonic myopathy, PROMM), Ranum (myotonic dystrophy 2, DM2) and Udd (proximal myotonic dystrophy, PDM). Clinical features these three phenotypes had in common were diffuse, proximal or distal weakness, wasting, myotonia, cataract, cerebral, endocrine and cardiac abnormalities. Initially, the clinical differences between DM1 and PROMM seemed unmistakable, but meanwhile it has become apparent that the clinical differences between these entities are blurring. In 1999, Day et al., Meola et al. and Ricker et al. mapped the mutated gene of all three phenotypes to chromosome 3q. In 2001, the three different phenotypes were found to rely on the same mutation in the ZNF9 gene on chromosome 3q21.3. Although DM2 may be clinically heterogeneous, it is by result of a mutation in a single gene. The mutation responsible for DM2 is a CCTG-repeat expansion of 75,11 000 repeats in intron 1 of the ZNF9 gene on chromosome 3q21.3. Because of the clinical heterogeneity, the diagnosis of DM2 should rely on DNA analysis alone. [source] R120G ,B-crystallin promotes the unfolding of reduced ,-lactalbumin and is inherently unstableFEBS JOURNAL, Issue 3 2005Teresa M. Treweek ,-Crystallin is the principal lens protein which, in addition to its structural role, also acts as a molecular chaperone, to prevent aggregation and precipitation of other lens proteins. One of its two subunits, ,B-crystallin, is also expressed in many nonlenticular tissues, and a natural missense mutation, R120G, has been associated with cataract and desmin-related myopathy, a disorder of skeletal muscles [Vicart P, Caron A, Guicheney P, Li Z, Prevost MC, Faure A, Chateau D, Chapon F, Tome F, Dupret JM, Paulin D & Fardeau M (1998) Nat Genet20, 92,95]. In the present study, real-time 1H-NMR spectroscopy showed that the ability of R120G ,B-crystallin to stabilize the partially folded, molten globule state of ,-lactalbumin was significantly reduced in comparison with wild-type ,B-crystallin. The mutant showed enhanced interaction with, and promoted unfolding of, reduced ,-lactalbumin, but showed limited chaperone activity for other target proteins. Using NMR spectroscopy, gel electrophoresis, and MS, we observed that, unlike the wild-type protein, R120G ,B-crystallin is intrinsically unstable in solution, with unfolding of the protein over time leading to aggregation and progressive truncation from the C-terminus. Light scattering, MS, and size-exclusion chromatography data indicated that R120G ,B-crystallin exists as a larger oligomer than wild-type ,B-crystallin, and its size increases with time. It is likely that removal of the positive charge from R120 of ,B-crystallin causes partial unfolding, increased exposure of hydrophobic regions, and enhances its susceptibility to proteolysis, thus reducing its solubility and promoting its aggregation and complexation with other proteins. These characteristics may explain the involvement of R120G ,B-crystallin with human disease states. [source] Effect of inhaled corticosteroids on risk of development of cataract: a meta-analysisFUNDAMENTAL & CLINICAL PHARMACOLOGY, Issue 3 2006Anup Uboweja Abstract The objective of this study was to quantify the risk of cataract among users of inhaled corticosteroids (ICS). Studies that examined the association of ICS use with risk of cataract were identified through computerized (MEDLINE, EMBASE), manual searches using Index Medicus, and checking cross-references to recover all published articles and scientific session abstracts. Pooled odds ratio (OR) with 95% confidence intervals (CI) were estimated using two methods, fixed effects Mantel,Haenszel model and random effects DerSimonian,Laird model. Four studies satisfied all the inclusion/exclusion criteria and were included in the analysis. The pooled OR (95% CI) by the Mantel,Haenszel method was 1.48 (1.39,1.57) and by the DerSimonian,Laird method was 1.48 (1.30,1.68). The test for heterogeneity was not significant. A total number of nine negative studies would be required to make the results of our meta-analysis non-significant. Number needed to harm is 16 with 95% CI of 13,19. Contrary to popular belief, inhaled ICS may be associated with systemic side effects like cataract as shown by this meta-analysis. The risk of increased cataract shown in our analysis needs to be weighted against the benefits of ICS. Further evaluations are required to clarify the causal association between the dosage and duration of drug use. [source] Zimmermann,Laband syndrome with bilateral developmental cataract , a new association?INTERNATIONAL JOURNAL OF PAEDIATRIC DENTISTRY, Issue 1 2004N. Shah Summary. An unusual case of Zimmermann,Laband syndrome in a young male child with an unreported association of bilateral developmental cataract is presented. The pathognomonic triad of gingival fibromatosis, aplastic or hypoplastic distal phalanges with absent nails, and enlargement of soft tissues of the face were obvious, besides the known moderate learning disability and mild hearing loss. The case is discussed in the light of relevant literature. To the best of our knowledge, this is the first report of early developmental cataracts in association with the Zimmermann,Laband syndrome. Besides detection and timely recognition of the syndrome to allow adequate dental care, ophthalmic screening at periodic intervals is merited to improve the overall quality of life for these patients. [source] Flowers and Leaves of Tropaeolum majus L. as Rich Sources of LuteinJOURNAL OF FOOD SCIENCE, Issue 9 2005P.Y. Niizu ABSTRACT: As increasing evidence supports the role of lutein and zeaxanthin in reducing the risk of cataract and macular degeneration, food sources of these carotenoids are being sought. In the present study, the lutein content of the edible flowers and leaves of Tropaeolum majus L. was determined by high-performance liquid chromatography-photodiode array detector (HPLC-PDAD), complemented by HPLC-mass spectrometry (MS) for identification. Chemical reactions were also used as identifying parameters. The yellow and brownish orange flowers had 450 ± 60 ,g/g and 350 ± 50 ,g/g lutein, respectively. Violaxanthin, antheraxanthin, zeaxanthin, zeinoxanthin, ,-cryptoxanthin, ,-carotene, and ,-carotene were also detected at very low levels. The leaves had 136 ± 18 ,g/g lutein, 69 ± 7 ,g/g ,-carotene, 74 ± 23 ,g/g violaxanthin, and 48 ± 13 ,g/g neoxanthin. Lutein was partly esterified in the flowers and unesterified in the leaves. The flowers of T. majus are therefore excellent food sources of lutein and the leaves good sources of both lutein and the provitamin A ,-carotene. [source] Retinoblastoma: Review of 30 years' experience with external beam radiotherapyJOURNAL OF MEDICAL IMAGING AND RADIATION ONCOLOGY, Issue 3 2003Claire Phillips Summary A review of the experience at the Peter MacCallum Cancer Centre (Peter Mac), Melbourne, Australia in treating retinoblastoma with external beam radiotherapy was conducted. Outcomes of particular interest were tumour control, vision preservation and treatment late effects. The review was restricted to patients that had intact eyes treated at Peter Mac from 1965 until 1997 with at least 2 years of follow up. Histories were reviewed regarding patient and tumour characteristics and treatment details. Thirty-five patients were identified in whom 47 eyes were treated. Of the tumours, 47% were Reese,Ellsworth stage IV or V and the majority of others were at high risk for vision loss because of tumour location. The radiation treatment technique became increasingly sophisticated during the study period. Radiation dose and fraction size have similarly evolved but most patients received 30,50 Gy. Since 1989, a highly accurate contact lens immobilization technique has been used to deliver 40 Gy in 20 fractions. Thirteen eyes required additional local therapy. Of the treated eyes, 34 (72%) remain intact and 74% of these have useful vision. One patient died from retinoblastoma and three from second malignant neoplasms. With modern radiotherapy, late toxicities other than growth arrest and non-progressive cataract did not occur during the study period. Tumour control was high and a very acceptable rate of organ and vision preservation was achieved in a relatively high-risk population. Modern radiotherapy continues to develop in an attempt to improve treatment accuracy and minimize late radiation toxicity. [source] Effects of lutein and zeaxanthin on aspects of eye healthJOURNAL OF THE SCIENCE OF FOOD AND AGRICULTURE, Issue 1 2010Le Ma Abstract Lutein and zeaxanthin are members of the oxygenated carotenoids found particularly in egg yolks and dark-green leafy vegetables. A great deal of research has focused on their beneficial roles in eye health. The present article summarises the current literature related to the bioactivity of these carotenoids, emphasising their effects and possible mechanisms of action in relation to human eye health. Available evidence demonstrates that lutein and zeaxanthin are widely distributed in a number of body tissues and are uniquely concentrated in the retina and lens, indicating that each has a possible specific function in these two vital ocular tissues. Most of epidemiological studies and clinical trials support the notion that lutein and zeaxanthin have a potential role in the prevention and treatment of certain eye diseases such as age-related macular degeneration, cataract and retinitis pigmentosa. The biological mechanisms for the protective effects of these carotenoids may include powerful blue-light filtering activities and antioxidant properties. Although most studies point towards significant health benefits from lutein and zeaxanthin, further large-scale randomised supplementation trials are needed to define their effects on ocular function in health and disease. Copyright © 2009 Society of Chemical Industry [source] Mass spectrometry for the study of protein glycation in diseaseMASS SPECTROMETRY REVIEWS, Issue 5 2006Toshimitsu Niwa Abstract The structural elucidation of advanced glycation end-product (AGE)-modified proteins and quantitative analysis of free AGEs have been successfully performed, by use of mass spectrometry (MS) in plasma and tissues of patients with AGE-related diseases, such as diabetes mellitus, uremia, cataract, and liver cirrhosis. Matrix-assisted laser desorption/ionization (MALDI)-MS made it possible to directly analyze the AGE-modified proteins such as albumin and IgG. However, because the direct structural analysis of intact AGE-modified proteins is often not easy due to the formation of broad and poorly resolved peaks, peptide mapping after enzymatic hydrolysis was introduced into the analysis of AGE-modified proteins and the site-specific analysis of defined AGEs by MALDI-MS. Liquid chromatography/electrospray ionization mass spectrometry (LC/ESI-MS) has been employed not only for the structural elucidation of enzymatically hydrolyzed AGEs-modified peptides but also for simultaneous quantification of free AGEs in plasma and tissues of patients. Based on many studies that use MS for the analysis of AGEs, there is no doubt as to the important role of protein-linked AGEs in several diseases. © 2006 Wiley-Liss, Inc. [source] Risks of allogeneic hand transplantationMICROSURGERY, Issue 2 2004Steffen Baumeister M.D. A patient undergoing allogeneic hand transplantation needs lifelong immunosuppression with the risk of serious side effects, including life-threatening disease. The question remains: does the eventual improvement in function justify the risk? To answer this question, we try to assess the risks based on a large body of cumulative data derived from more 200,000 kidney transplants using the Collaborative Transplantation Study (CTS). Only selective data which apply to a patient population aged between 15,40 years were used (n = 58,310). Data are compared to the literature references and show superiority with respect to patient numbers, statistics, actuality, and methodology. The CTS data show that the incidence of de novo malignancies is lower than previously reported. The risk of developing any form of cancer is approximately 3%, of developing a skin cancer 1.1%, and of developing a lymphoma 0.58% within 5 years after transplantation. The risk of suffering from a cataract is 11% after 5 years, which is also lower than previously reported. Although the incidence of side effects (particularly malignant disease) is likely to be lower than previously thought, the risk-benefit question must be answered by each hand surgeon for each individual patient. © 2004 Wiley-Liss, Inc. [source] | ||||||||||||||||