WorldWideScience

Sample records for hereditary human cataract

  1. Aqueous humor ferritin in hereditary hyperferritinemia cataract syndrome.

    Science.gov (United States)

    Lenzhofer, Markus; Schroedl, Falk; Trost, Andrea; Kaser-Eichberger, Alexandra; Wiedemann, Helmut; Strohmaier, Clemens; Hohensinn, Melchior; Strasser, Michael; Muckenthaler, Martina U; Grabner, Guenther; Aigner, Elmar; Reitsamer, Herbert A

    2015-04-01

    Hereditary hyperferritinemia cataract syndrome (HHCS) is a rare autosomal dominant hereditary disease, characterized by hyperferritinemia but with absence of body iron excess and early onset of bilateral cataracts. Although 5- to 20-fold increased serum ferritin concentrations have been reported in HHCS patients, data of ferritin levels in aqueous humor have not been obtained. We therefore aimed to investigate the ferritin levels in aqueous humor and serum and further present histological and ultrastructural data of the lens. During cataract extraction and intraocular lens implantation, aqueous humor and lens aspirate of a 37-year-old HHCS patient were obtained from both eyes. Ferritin levels in serum and aqueous humor were quantitatively analyzed via immunoassays in the HHCS patient and healthy control subjects (n = 6). Lens aspirate in HHCS was analyzed histologically and at the ultrastructural level. Further, genetic mutation screening by polymerase chain reaction and DNA sequencing in blood was performed. Serum ferritin levels in the control group were 142.2 ± 38.7 μg/L, whereas in the HHCS patient, this parameter was excessively increased (1086 μg/L). Analysis of ferritin in aqueous humor revealed 6.4 ± 3.8 μg/L in normal control subjects and 146.3 μg/L (OD) and 160.4 μg/L (OS) in the HHCS patient. DNA analysis detected a C>A mutation on position +18, a T>G mutation on position +22, a T>C mutation on position +24, and a T>G polymorphism on position +26 in the iron-responsive element of the light-chain ferritin (L-ferritin) gene. In the HHCS patient, a 23-fold (OD) to 25-fold (OS) increased aqueous humor ferritin level was detected. Therefore, the formation of bilateral cataract in HHCS is most likely a result of elevated aqueous humor ferritin. In addition, a novel mutation in this rare disease in the iron-responsive element of L-ferritin gene is reported.

  2. Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract

    DEFF Research Database (Denmark)

    Hansen, Lars; Mikkelsen, Annemette; Nürnberg, Peter

    2009-01-01

    PURPOSE: Identification of the causal mutations in 28 unrelated families and individuals with hereditary congenital cataract identified from a national Danish register of hereditary eye diseases. Seven families have been published previously, and the data of the remaining 21 families are presented...... together with an overview of the results in all families. METHODS: A combined screening approach of linkage analysis and sequencing of 17 cataract genes were applied to mutation analyses of total 28 families. RESULTS: The study revealed a disease locus in seven of eight families that were amenable......, and a gene conversion is the most likely mutational event causing this variant. Ten families had microcornea cataract, and a mutation was identified in eight of those. Most families displayed mixed phenotypes with nuclear, lamellar, and polar opacities and no apparent genotype-phenotype correlation emerged...

  3. Cataracts

    Science.gov (United States)

    ... visit HHS USAJobs Home > Statistics and Data > Cataracts Cataracts Cataracts Defined A cataract is a clouding of the ... 2010 2010 U.S. Age-Specific Prevalence Rates for Cataract by Age, and Race/Ethnicity The risk of ...

  4. A novel frameshift mutation in CX46 associated with hereditary dominant cataracts in a Chinese family

    Directory of Open Access Journals (Sweden)

    Xiu-Kun Cui

    2017-05-01

    Full Text Available AIM: To investigate the genetic mutations that are associated the hereditary autosomal dominant cataract in a Chinese family. METHODS: A Chinese family consisting of 20 cataract patients (including 9 male and 11 female and 2 unaffected individuals from 5 generations were diagnosed to be a typical autosomal dominant cataract pedigree. Genomic DNA samples were extracted from the peripheral blood cells of the participants in this pedigree. Exon sequence was used for genetic mutation screening. In silico analysis was used to study the structure characteristics of connexin 46 (CX46 mutant. Immunoblotting was conduceted for testing the expression of CX46. RESULTS: To determine the involved genetic mutations, 11 well-known cataract-associated genes (cryaa, cryab, crybb1, crybb2, crygc, crygd, Gja3, Gja8, Hsf4, Mip and Pitx3 were chosen for genetic mutation test by using exon sequencing. A novel cytosine insertion at position 1195 of CX46 cDNA (c.1194_1195ins C was found in the samples of 5 tested cataract patients but not in the unaffected 2 individuals nor in normal controls, which resulted in 30 amino acids more extension in CX46C-terminus (cx46fs400 compared with the wild-type CX46. In silico protein structure analysis indicated that the mutant showed distinctive hydrophobicity and protein secondary structure compared with the wild-type CX46. The immunoblot results revealed that CX46 protein, which expressed in the aging cataract lens tissues, was absence in the proband lens. In contrast, CX50, alpha A-crystallin and alphaB-crystallin expressed equally in both proband and aging cataract tissues. Those results revealed that the cx46fs400 mutation could impair CX46 protein expression. CONCLUSION: The insertion of cytosine at position 1195 of CX46 cDNA is a novel mutation site that is associated with the autosomal dominant cataracts in this Chinese family. The C-terminal frameshift mutation is involved in regulating CX46 protein expression.

  5. Fasciculations in human hereditary disease.

    Science.gov (United States)

    Finsterer, Josef; Aliyev, Rahim

    2015-06-01

    Fasciculations are a manifestation of peripheral nerve hyperexcitability in addition to myokymia, neuromyotonia, cramps, or tetany. Fasciculations occur in hereditary and non-hereditary diseases. Among the hereditary diseases, fasciculations are most frequently reported in familial amyotrophic lateral sclerosis (FALS), and spinal muscular atrophy (SMA). Among the non-hereditary diseases, fasciculations occur most frequently in peripheral nerve hyperexcitability syndromes (Isaac's syndrome, voltage-gated potassium channelopathy, cramp fasciculation syndrome, Morvan syndrome). If the cause of fasciculations remains unknown, they are called benign. Systematically reviewing the literature about fasciculations in hereditary disease shows that fasciculations can be a phenotypic feature in bulbospinal muscular atrophy (BSMA), GM2-gangliosidosis, triple-A syndrome, or hereditary neuropathy. Additionally, fasciculations have been reported in familial amyloidosis, spinocerebellar ataxias, Huntington's disease, Rett syndrome, central nervous system disease due to L1-cell adhesion molecule (L1CAM) mutations, Fabry's disease, or Gerstmann-Sträussler disease. Rarely, fasciculations may be a phenotypic feature in patients with mitochondrial disorders or other myopathies. Fasciculations are part of the phenotype in much more genetic disorders than commonly assumed. Fasciculations not only occur in motor neuron disease, but also in hereditary neuropathy, spinocerebellar ataxia, GM2-gangliosidosis, Huntington's disease, Rett syndrome, Fabry's disease, Gerstmann-Sträussler disease, mitochondrial disorders, or muscular dystrophies.

  6. Cataract

    Science.gov (United States)

    A cataract is a clouding of the lens in your eye. It affects your vision. Cataracts are very common in older people. By age ... than half of all Americans either have a cataract or have had cataract surgery. A cataract can ...

  7. Cataracts

    Science.gov (United States)

    ... vision is a symptom of cataracts. Distortion or ghost images from cataracts. See a simulation of what ... of Refractive Surgery * Required * First Name: * Last Name: Member ID: * Phone Number: * Email: * Enter code: * Message: Thank ...

  8. Identification of a Novel GJA8 (Cx50) Point Mutation Causes Human Dominant Congenital Cataracts

    Science.gov (United States)

    Ge, Xiang-Lian; Zhang, Yilan; Wu, Yaming; Lv, Jineng; Zhang, Wei; Jin, Zi-Bing; Qu, Jia; Gu, Feng

    2014-02-01

    Hereditary cataracts are clinically and genetically heterogeneous lens diseases that cause a significant proportion of visual impairment and blindness in children. Human cataracts have been linked with mutations in two genes, GJA3 and GJA8, respectively. To identify the causative mutation in a family with hereditary cataracts, family members were screened for mutations by PCR for both genes. Sequencing the coding regions of GJA8, coding for connexin 50, revealed a C > A transversion at nucleotide 264, which caused p.P88T mutation. To dissect the molecular consequences of this mutation, plasmids carrying wild-type and mutant mouse ORFs of Gja8 were generated and ectopically expressed in HEK293 cells and human lens epithelial cells, respectively. The recombinant proteins were assessed by confocal microscopy and Western blotting. The results demonstrate that the molecular consequences of the p.P88T mutation in GJA8 include changes in connexin 50 protein localization patterns, accumulation of mutant protein, and increased cell growth.

  9. "Ant-egg" cataract revisited

    DEFF Research Database (Denmark)

    Clemmensen, Kåre; Enghild, Jan J; Ivarsen, Anders

    2017-01-01

    PURPOSE: Hereditary congenital cataract varies immensely concerning location and form of the lens opacities. A specific and very rare phenotype is called "ant-egg" cataract first described in 1900. "Ant-eggs" have previously been examined using light microscopy, backscattered electron imaging and X......-ray scans and electron microscopy. The purpose of this study was to further characterize "ant-egg" cataract using modern technology and display the history of the "ant-eggs" after cataract extraction. METHODS: "Ant-eggs" were examined using Heidelberg SPECTRALIS Optical Coherence Tomography (OCT......-egg" structures in "ant-egg" cataract. Eighteen of these proteins are not natively found in the human lens. Moreover, "ant-eggs" do not vary over time, after cataract extraction, regarding size and location....

  10. Free and bound water in normal and cataractous human lenses.

    Science.gov (United States)

    Heys, Karl R; Friedrich, Michael G; Truscott, Roger J W

    2008-05-01

    To analyze free and total water in human normal and cataractous lenses. Thermogravimetric analysis was used to determine total water, and differential scanning calorimetry was used for free water. In normal human lenses, the total water content of the nucleus remained unchanged with age, but the state of the water altered. The ratio of free to bound water increased steadily throughout adult life. In a 20-year-old person, there was approximately one bound water molecule for each free water molecule in the lens center, whereas in a 70- to 80-year-old person, there were two free water molecules for each bound water molecule. This conversion of bound to free water does not appear to be simply a consequence of the aggregation of soluble crystallins into high molecular weight aggregates because studies with intact pig lenses, in which such processes were facilitated by heat, did not show similar changes. The region of the lens in which the barrier to diffusion develops at middle age corresponds to a transition zone in which the protein concentration is intermediate between that of the cortex and the nucleus. In cataractous lenses, the free-to-bound water ratio was not significantly different from that of age-matched normal lenses; however, total water content in the center of advanced nuclear cataractous lenses was slightly lower than in normal lenses. As the human lens ages, bound water is progressively changed to free water. Advanced nuclear cataract may be associated with lower total hydration of the lens nucleus.

  11. Postinflammatory cataracts in the mouse: induction by human mycoplasma-like organisms.

    OpenAIRE

    Wirostko, E.; Johnson, L; Wirostko, B

    1991-01-01

    Cataracts often occur in humans secondary to uveitis. Uveitis may be caused by various infectious agents, but rarely is the agent detected in the cataract. Mycoplasma-like organisms (MLO) were recently reported to cause human uveitis and retinitis. Cataracts were often present in those inflamed eyes. MLO are intracellular cell wall deficient pathogenic bacteria. They are pleomorphic tubulospherical and filamentous organisms with a characteristic ultrastructural appearance. No MLO culture syst...

  12. Acid phosphatase and lipid peroxidation in human cataractous lens epithelium

    Directory of Open Access Journals (Sweden)

    Vasavada Abhay

    1993-01-01

    Full Text Available The anterior lens epithelial cells undergo a variety of degenerative and proliferative changes during cataract formation. Acid phosphatase is primarily responsible for tissue regeneration and tissue repair. The lipid hydroperoxides that are obtained by lipid peroxidation of polysaturated or unsaturated fatty acids bring about deterioration of biological membranes at cellular and tissue levels. Acid phosphatase and lipid peroxidation activities were studied on the lens epithelial cells of nuclear cataract, posterior subcapsular cataract, mature cataract, and mixed cataract. Of these, mature cataractous lens epithelium showed maximum activity for acid phosphatase (516.83 moles of p-nitrophenol released/g lens epithelium and maximum levels of lipid peroxidation (86.29 O.D./min/g lens epithelium. In contrast, mixed cataractous lens epithelium showed minimum activity of acid phosphatase (222.61 moles of p-nitrophenol released/g lens epithelium and minimum levels of lipid peroxidation (54.23 O.D./min/g lens epithelium. From our study, we correlated the maximum activity of acid phosphatase in mature cataractous lens epithelium with the increased areas of superimposed cells associated with the formation of mature cataract. Likewise, the maximum levels of lipid peroxidation in mature cataractous lens epithelium was correlated with increased permeability of the plasma membrane. Conversely, the minimum levels of lipid peroxidation in mixed cataractous lens epithelium makes us presume that factors other than lipid peroxidation may also account for the formation of mixed type of cataract.

  13. The molecular basis of hereditary enamel defects in humans.

    Science.gov (United States)

    Wright, J T; Carrion, I A; Morris, C

    2015-01-01

    The formation of human enamel is highly regulated at the molecular level and involves thousands of genes. Requisites for development of this highly mineralized tissue include cell differentiation; production of a unique extracellular matrix; processing of the extracellular matrix; altering of cell function during different stages of enamel formation; cell movement and attachment; regulation of ion and protein movement; and regulation of hydration, pH, and other conditions of the microenvironment, to name just a few. Not surprising, there is a plethora of hereditary conditions with an enamel phenotype. The objective of this review was to identify the hereditary conditions listed on Online Mendelian Inheritance in Man (OMIM) that have an associated enamel phenotype and whether a causative gene has been identified. The OMIM database was searched with the terms amelogenesis, enamel, dental, and tooth, and all results were screened by 2 individuals to determine if an enamel phenotype was identified. Gene and gene product function was reviewed on OMIM and from publications identified in PubMed. The search strategy revealed 91 conditions listed in OMIM as having an enamel phenotype, and of those, 71 have a known molecular etiology or linked genetic loci. The purported protein function of those conditions with a known genetic basis included enzymes, regulatory proteins, extracellular matrix proteins, transcription factors, and transmembrane proteins. The most common enamel phenotype was a deficient amount of enamel, or enamel hypoplasia, with hypomineralization defects being reported less frequently. Knowing these molecular defects allows an initial cataloging of molecular pathways that lead to hereditary enamel defects in humans. This knowledge provides insight into the diverse molecular pathways involved in enamel formation and can be useful when searching for the genetic etiology of hereditary conditions that involve enamel. © International & American Associations for

  14. Characterization of a variant of gap junction protein α8 identified in a family with hereditary cataract.

    Directory of Open Access Journals (Sweden)

    Debbie S Kuo

    Full Text Available Congenital cataracts occur in isolation in about 70% of cases or are associated with other abnormalities such as anterior segment dysgenesis and microphthalmia. We identified a three-generation family in the University of California San Francisco glaucoma clinic comprising three individuals with congenital cataracts and aphakic glaucoma, one of whom also had microphthalmia. The purpose of this study was to identify a possible causative mutation in this family and to investigate its pathogenesis.We performed exome sequencing and identified a putative mutation in gap junction protein α8 (GJA8. We used PCR and DNA sequencing of GJA8 in affected and unaffected members of the pedigree to test segregation of the variant with the phenotype. We tested cellular distribution and function of the variant protein by immunofluorescence and intercellular transfer of Neurobiotin in transiently transfected HeLa cells.Exome sequencing revealed a variant in GJA8 (c.658A>G encoding connexin50 (Cx50 that resulted in a missense change (p.N220D in transmembrane domain 4. The variant was present in all three affected family members, but was also present in the proband's grandfather who was reported to be unaffected. The mutant protein localized to the plasma membrane and supported intercellular Neurobiotin transfer in HeLa cells.We identified a variant in transmembrane domain 4 of Cx50 in a family with autosomal dominant congenital cataracts. This variant has been previously identified in other cataract cohorts, but it is also present in unaffected individuals. Our study demonstrates that the mutant protein localized to the plasma membrane and formed functional intercellular channels. These data suggest that GJA8 c.658A>G is most likely a benign rare variant.

  15. Genetics of human isolated hereditary hair loss disorders.

    Science.gov (United States)

    Basit, S; Khan, S; Ahmad, W

    2015-09-01

    Hereditary hair loss in human is a group of clinically and genetically heterogeneous disorders. It is characterized by sparse to complete absence of hair on the scalp and other parts of the body. In few cases tightly curled twisted wooly hair (WH) on the scalp has been reported as well. The hair loss disorders, including both syndromic and non-syndromic (isolated) forms, segregate either in autosomal dominant or autosomal recessive pattern. To date, seven autosomal dominant and equal numbers of autosomal recessive isolated forms of hair loss disorders have been characterized. Genes responsible for causing most of these disorders have been identified. In this review, we have provided an update on clinical and genetic aspects of isolated hereditary hair loss disorders manifesting with hypotrichosis and/or WHs. Because most of the recessive genes have been mapped using consanguineous families of Pakistani origin, therefore emphasis is given to mutations identified in these families. OMIM nomenclature has been followed to indicate different forms of hair loss disorders. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  16. Formation of hydroxyl radicals in the human lens is related to the severity of nuclear cataract

    DEFF Research Database (Denmark)

    Garner, B; Davies, Michael Jonathan; Truscott, R J

    2000-01-01

    Recent studies have identified specific hydroxylated amino acid oxidation products which strongly suggest the presence of hydroxyl radical (HO.)-damaged proteins in human cataractous lenses. In the present study, the ability of early stage (type II) and advanced (type IV) nuclear cataractous lens....... formation and not DMPO-OOH degradation. The metal ion chelator, diethylenetriaminepentaacetic acid, also inhibited HO. formation, indicating that lenticular metal ions play a key role in HO. formation. Cataractous lens homogenates also stimulated ascorbyl radical production, further suggesting the presence...

  17. Deaminated UV filter 3-hydroxykynurenine O-beta-D-glucoside is found in cataractous human lenses.

    Science.gov (United States)

    Snytnikova, Olga A; Fursova, Anjella Zh; Chernyak, Elena I; Vasiliev, Vladimir G; Morozov, Sergey V; Kolosova, Nataliya G; Tsentalovich, Yuri P

    2008-06-01

    Analysis of UV filter levels in 48 cataractous human lenses was performed with the use of HPLC. A new chromophore with the absorption maximum at 410nm and molecular mass of 369Da was detected and assigned as deaminated 3-hydroxykynurenine O-beta-D-glucoside (3OHCKAG). Cataractous lenses are characterized by the wide range of the UV filter concentrations and remarkably lower levels of UV filters and glutathione than published for the normal lenses. No correlation between the lens age and the level of UV filters has been found in cataractous lenses.

  18. Age and Smoking Related Changes in Metal Ion Levels in Human Lens: Implications for Cataract Formation.

    Science.gov (United States)

    Langford-Smith, Alex; Tilakaratna, Viranga; Lythgoe, Paul R; Clark, Simon J; Bishop, Paul N; Day, Anthony J

    2016-01-01

    Age-related cataract formation is the primary cause of blindness worldwide and although treatable by surgical removal of the lens the majority of sufferers have neither the finances nor access to the medical facilities required. Therefore, a better understanding of the pathogenesis of cataract may identify new therapeutic targets to prevent or slow its progression. Cataract incidence is strongly correlated with age and cigarette smoking, factors that are often associated with accumulation of metal ions in other tissues. Therefore this study evaluated the age-related changes in 14 metal ions in 32 post mortem human lenses without known cataract from donors of 11 to 82 years of age by inductively coupled plasma mass spectrometry; smoking-related changes in 10 smokers verses 14 non-smokers were also analysed. A significant age-related increase in selenium and decrease in copper ions was observed for the first time in the lens tissue, where cadmium ion levels were also increased as has been seen previously. Aluminium and vanadium ions were found to be increased in smokers compared to non-smokers (an analysis that has only been carried out before in lenses with cataract). These changes in metal ions, i.e. that occur as a consequence of normal ageing and of smoking, could contribute to cataract formation via induction of oxidative stress pathways, modulation of extracellular matrix structure/function and cellular toxicity. Thus, this study has identified novel changes in metal ions in human lens that could potentially drive the pathology of cataract formation.

  19. Age and Smoking Related Changes in Metal Ion Levels in Human Lens: Implications for Cataract Formation.

    Directory of Open Access Journals (Sweden)

    Alex Langford-Smith

    Full Text Available Age-related cataract formation is the primary cause of blindness worldwide and although treatable by surgical removal of the lens the majority of sufferers have neither the finances nor access to the medical facilities required. Therefore, a better understanding of the pathogenesis of cataract may identify new therapeutic targets to prevent or slow its progression. Cataract incidence is strongly correlated with age and cigarette smoking, factors that are often associated with accumulation of metal ions in other tissues. Therefore this study evaluated the age-related changes in 14 metal ions in 32 post mortem human lenses without known cataract from donors of 11 to 82 years of age by inductively coupled plasma mass spectrometry; smoking-related changes in 10 smokers verses 14 non-smokers were also analysed. A significant age-related increase in selenium and decrease in copper ions was observed for the first time in the lens tissue, where cadmium ion levels were also increased as has been seen previously. Aluminium and vanadium ions were found to be increased in smokers compared to non-smokers (an analysis that has only been carried out before in lenses with cataract. These changes in metal ions, i.e. that occur as a consequence of normal ageing and of smoking, could contribute to cataract formation via induction of oxidative stress pathways, modulation of extracellular matrix structure/function and cellular toxicity. Thus, this study has identified novel changes in metal ions in human lens that could potentially drive the pathology of cataract formation.

  20. "Ant-egg" cataract revisited.

    Science.gov (United States)

    Clemmensen, Kåre; Enghild, Jan J; Ivarsen, Anders; Riise, Ruth; Vorum, Henrik; Heegaard, Steffen

    2017-01-01

    Hereditary congenital cataract varies immensely concerning location and form of the lens opacities. A specific and very rare phenotype is called "ant-egg" cataract first described in 1900. "Ant-eggs" have previously been examined using light microscopy, backscattered electron imaging and X-ray scans and electron microscopy. The purpose of this study was to further characterize "ant-egg" cataract using modern technology and display the history of the "ant-eggs" after cataract extraction. "Ant-eggs" were examined using Heidelberg SPECTRALIS Optical Coherence Tomography (OCT)(Heidelberg Engineering, Heidelberg, Germany). Ten "ant-eggs" were extracted; four of these as well as control tissue were analyzed by mass spectrometry (AB Sciex). Proteins were identified and their approximate abundances were determined. Immunohistochemical staining was carried out on the remaining "ant-eggs" for cytokeratin and S100. In anterior OCT-images, the "ant-egg" structures are localized on the iris. Comparative pictures showed that they stayed in the same location for more than 45 years. Mass spectrometry of "ant-eggs" yielded a proteome of 56 different proteins. Eighteen of the 56 "ant-egg" proteins (32 %) were neither present in our controls nor in a known fetal lens proteome. Among these were cytokeratin and Matrix-Gla protein. Immunohistochemical reactions were positive for cytokeratin and S100. This study demonstrates the previously unknown protein composition of the "ant-egg" structures in "ant-egg" cataract. Eighteen of these proteins are not natively found in the human lens. Moreover, "ant-eggs" do not vary over time, after cataract extraction, regarding size and location.

  1. Modelling image formation on the retina and backscattered light in the human eye with cataracts

    Science.gov (United States)

    Kelly-Pérez, Ismael; Bruce, Neil C.; Berriel-Valdos, Luis R.

    2011-05-01

    We develop a computational model to analyze the effect of scattering on image formation in the human eye with cataracts. With this model we compare the scattered light on the retina and in the exit pupil of the eye and find significant differences in the effects observed. We found that the effect of scattering due to the retina reduces the effect of scattering due to cataracts in the second pass, and the most important parameter that affects scattering is the size of the particles.

  2. Cataract (image)

    Science.gov (United States)

    A cataract is a cloudy or opaque area in the lens of the eye. Cataracts usually develop as a person gets older and ... substances can also accelerate the development of a cataract. Cataracts can cause visual problems such as difficulty ...

  3. Analysis of nuclear fiber cell compaction in transparent and cataractous diabetic human lenses by scanning electron microscopy

    Directory of Open Access Journals (Sweden)

    Kuszak Jer R

    2003-01-01

    Full Text Available Abstract Background Compaction of human ocular lens fiber cells as a function of both aging and cataractogenesis has been demonstrated previously using scanning electron microscopy. The purpose of this investigation is to quantify morphological differences in the inner nuclear regions of cataractous and non-cataractous human lenses from individuals with diabetes. The hypothesis is that, even in the presence of the osmotic stress caused by diabetes, compaction rather than swelling occurs in the nucleus of diabetic lenses. Methods Transparent and nuclear cataractous lenses from diabetic patients were examined by scanning electron microscopy (SEM. Measurements of the fetal nuclear (FN elliptical angles (anterior and posterior, embryonic nuclear (EN anterior-posterior (A-P axial thickness, and the number of EN fiber cell membrane folds over 20 μm were compared. Results Diabetic lenses with nuclear cataract exhibited smaller FN elliptical angles, smaller EN axial thicknesses, and larger numbers of EN compaction folds than their non-cataractous diabetic counterparts. Conclusion As in non-diabetic lenses, the inner nuclei of cataractous lenses from diabetics were significantly more compacted than those of non-cataractous diabetics. Little difference between diabetic and non-diabetic compaction levels was found, suggesting that diabetes does not affect the degree of compaction. However, consistent with previous proposals, diabetes does appear to accelerate the formation of cataracts that are similar to age-related nuclear cataracts in non-diabetics. We conclude that as scattering increases in the diabetic lens with cataract formation, fiber cell compaction is significant.

  4. Characterization and prevalence of cataracts in Labrador Retrievers in The Netherlands.

    Science.gov (United States)

    Kraijer-Huver, Ingrid M G; Gubbels, Ed J; Scholten, Janneke; Djajadiningrat-Laanen, Sylvia C; Boevé, Michael H; Stades, Frans C

    2008-10-01

    To assess the prevalence and distribution of types of cataract, investigate the effects of selective breeding on cataract development, and identify the relationship between posterior polar cataract and other types of cortical cataracts in Labrador Retrievers in The Netherlands. 9,017 Labrador Retrievers. Records of 18,283 ophthalmic examinations performed by veterinary ophthalmologists from 1977 through 2005 were reviewed. There were 522 dogs affected by hereditary cataracts in 1 or both eyes without progressive retinal atrophy (PRA) and 166 PRA-affected dogs with cataracts. These cataracts were divided into 3 groups: posterior polar (triangular) cataract, extensive immature and mature cataract, and a miscellaneous group. Dogs with PRA were analyzed separately. From 1980 through 2000, the prevalence of hereditary cataracts was stable at 8%. The prevalence of cataracts in offspring of cataract-affected dogs was significantly increased, compared with the prevalence in offspring of nonaffected dogs. The distribution of types of cataract was significantly different between dogs with primary cataracts and PRA-affected dogs. Dogs with posterior polar (triangular) cataracts produced affected offspring with the same distribution of types of cataracts as the entire population of primary cataract-affected dogs. Cataract development in the Labrador Retriever population in The Netherlands appears to be a predominantly genetic disorder. Posterior polar (triangular) cataracts appear to be related to other types of hereditary cataract. Although there is no conclusive evidence, it seems valid to continue exclusion of all Labrador Retrievers affected by any type of primary cataract from breeding.

  5. Proteomic analysis of water insoluble proteins from normal and cataractous human lenses.

    Science.gov (United States)

    Harrington, V; Srivastava, O P; Kirk, M

    2007-09-14

    The purpose of the study was to compare and analyze the composition of crystallin species that exist in the water insoluble-urea soluble (WI-US) and water insoluble-urea insoluble (WI-UI) protein fractions of a human cataractous lens and an age-matched normal lens. The water soluble (WS) and water insoluble (WI) protein fractions from a 68-year-old normal lens and a 61-year-old cataractous lens were isolated, and the WI proteins were further solubilized in urea to separate WI-US and WI-UI protein fractions. The WI-US and WI-UI protein fractions from normal and cataractous lenses were individually analyzed by two-dimensional (2D) gel electrophoresis. The protein spots were excised from 2D gels, digested with trypsin, and analyzed by the matrix-assisted laser desorption ionization-time of flight (MALDI-TOF) method. The tryptic peptides from individual spots were further analyzed by the electrospray tandem mass spectrometry (ES-MS/MS) method to determine their amino acid sequences. The comparative 2D gel electrophoretic analyses of WI-US proteins of normal and cataractous lenses showed that the majority of species in a normal lens (68 years old) and a cataractous lens (61 years old) had M(r) between 20 to 30 kDa. The ES-MS/MS analyses showed that the individual WI-US protein spots from normal and cataractous lenses contained mostly either alphaA- or alphaB-crystallin with beta-crystallins, or alpha- and beta-crystallins with filensin as well as vimentin. Similar sequence analyses of tryptic fragments of 2D gel spots of WI-UI proteins revealed that the normal lens showed either individual alphaA- and alphaB-crystallins, a mixture of betaA3/A1-, betaB1-, and betaB2-crystallins and filensin, betaA4-, betaB1-, betaB2-, betaS-crystallins and filensin, or alphaA-, alphaB1-, filensin, and vimentin or alphaB-, betaA3-, betaA4-, betaB1-, betaB2-, and betaS-crystallins. In contrast, the WI-UI proteins from a cataractous lens showed three intact crystallins (alphaB-, gamma

  6. Promoter demethylation of Keap1 gene in human diabetic cataractous lenses

    Energy Technology Data Exchange (ETDEWEB)

    Palsamy, Periyasamy [Department of Ophthalmology and Visual Sciences, University of Nebraska Medical Center, Omaha, NE (United States); Ayaki, Masahiko [Shizuoka National Hospital, Saitama (Japan); Elanchezhian, Rajan [Department of Ophthalmology and Visual Sciences, University of Nebraska Medical Center, Omaha, NE (United States); Shinohara, Toshimichi, E-mail: tshinohara@unmc.edu [Department of Ophthalmology and Visual Sciences, University of Nebraska Medical Center, Omaha, NE (United States)

    2012-07-06

    Highlights: Black-Right-Pointing-Pointer We found significant Keap1 promoter demethylation in diabetic cataractous lenses. Black-Right-Pointing-Pointer Demethylation of Keap1 gene upregulated the expression of Keap1 mRNA and protein. Black-Right-Pointing-Pointer Elevated levels of Keap1 are known to decrease the levels of Nrf2. Black-Right-Pointing-Pointer Thereby, the levels of antioxidant enzymes are suppressed by decreased Nrf2 level. -- Abstract: Age-related cataracts (ARCs) are the major cause of visual impairments worldwide, and diabetic adults tend to have an earlier onset of ARCs. Although age is the strongest risk factor for cataracts, little is known how age plays a role in the development of ARCs. It is known that oxidative stress in the lens increases with age and more so in the lenses of diabetics. One of the central adaptive responses against the oxidative stresses is the activation of the nuclear transcriptional factor, NF-E2-related factor 2 (Nrf2), which then activates more than 20 different antioxidative enzymes. Kelch-like ECH associated protein 1 (Keap1) targets and binds to Nrf2 for proteosomal degradation. We hypothesized that hyperglycemia will lead to a dysfunction of the Nrf2-dependent antioxidative protection in the lens of diabetics. We studied the methylation status of the CpG islands in 15 clear and 21 diabetic cataractous lenses. Our results showed significant levels of demethylated DNA in the Keap1 promoter in the cataractous lenses from diabetic patients. In contrast, highly methylated DNA was found in the clear lens and tumorized human lens epithelial cell (HLEC) lines (SRA01/04). HLECs treated with a demethylation agent, 5-aza-2 Prime deoxycytidine (5-Aza), had a 10-fold higher levels of Keap1 mRNA, 3-fold increased levels of Keap1 protein, produced higher levels of ROS, and increased cell death. Our results indicated that demethylation of the CpG islands in the Keap1 promoter will activate the expression of Keap1 protein, which

  7. Identification of 3-hydroxykynurenine bound to proteins in the human lens. A possible role in age-related nuclear cataract.

    Science.gov (United States)

    Korlimbinis, Anastasia; Truscott, Roger J W

    2006-02-14

    Age-related nuclear (ARN) cataract is a major cause of world blindness. With the onset of ARN cataract, the normally transparent and colorless lens becomes opaque and can take on colors ranging from orange, brown, and even black. The molecular basis for this remarkable transformation is unknown. ARN cataract is also characterized by extensive oxidation, insolubilization, and cross-linking of polypeptides, particularly in the nucleus of the lens. It has been postulated that 3-hydroxykynurenine (3OHKyn) may be involved in these changes. This endogenous tryptophan metabolite is readily oxidized and is involved in the tanning of moth cocoons and the formation of pigments in the eyes of butterflies. 3OHKyn is a component of our primate-specific UV-filter pathway, and the brownish hue of ARN cataract lenses is also unique to humans. Because numerous colored compounds can be produced by autoxidation of 3OHKyn, this process could provide an explanation for the variety of lens colors and other changes seen in ARN cataract. For such a theory to be tenable, it needs to be demonstrated that 3OHKyn is bound to proteins in the human lens. Here, we show that all normal lenses older than 50 have 3OHKyn covalently attached to the nuclear proteins, most likely via cysteine residues. If indeed 3OHKyn is implicated in ARN cataract, a reduction in the levels that are bound in cataract, compared to normal lenses, would be expected. In agreement with this hypothesis, no bound 3OHKyn could be detected in proteins isolated from ARN cataract lenses.

  8. Comparative Analysis of Human Tissue Interactomes Reveals Factors Leading to Tissue-Specific Manifestation of Hereditary Diseases

    OpenAIRE

    Barshir, Ruth; Shwartz, Omer; Smoly, Ilan Y.; Yeger-Lotem, Esti

    2014-01-01

    An open question in human genetics is what underlies the tissue-specific manifestation of hereditary diseases, which are caused by genomic aberrations that are present in cells across the human body. Here we analyzed this phenomenon for over 300 hereditary diseases by using comparative network analysis. We created an extensive resource of protein expression and interactions in 16 main human tissues, by integrating recent data of gene and protein expression across tissues with data of protein-...

  9. Comparative analysis of human tissue interactomes reveals factors leading to tissue-specific manifestation of hereditary diseases.

    OpenAIRE

    Ruth Barshir; Omer Shwartz; Smoly, Ilan Y.; Esti Yeger-Lotem

    2014-01-01

    An open question in human genetics is what underlies the tissue-specific manifestation of hereditary diseases, which are caused by genomic aberrations that are present in cells across the human body. Here we analyzed this phenomenon for over 300 hereditary diseases by using comparative network analysis. We created an extensive resource of protein expression and interactions in 16 main human tissues, by integrating recent data of gene and protein expression across tissues with data of protein-...

  10. Congenital cataract

    Science.gov (United States)

    ... both eyes. Moderate to severe cataracts that affect vision, or a cataract that is in only 1 eye, will need to be treated with cataract removal surgery. In most (noncongenital) cataract surgeries, an artificial intraocular lens (IOL) is inserted into the eye. ...

  11. Presumed hereditary retinal degenerations: Ibadan experience ...

    African Journals Online (AJOL)

    Background: Retinitis pigmentosa (RP) is a hereditary retinal degenerative condition with no known treatment. Associated ocular conditions, such as cataract and glaucoma, when present further worsen vision, but these conditions are often treatable. There are, however, no known reports of cataract or glaucoma surgery in ...

  12. Integrated Computational Analysis of Genes Associated with Human Hereditary Insensitivity to Pain. A Drug Repurposing Perspective

    Directory of Open Access Journals (Sweden)

    Jörn Lötsch

    2017-08-01

    Full Text Available Genes causally involved in human insensitivity to pain provide a unique molecular source of studying the pathophysiology of pain and the development of novel analgesic drugs. The increasing availability of “big data” enables novel research approaches to chronic pain while also requiring novel techniques for data mining and knowledge discovery. We used machine learning to combine the knowledge about n = 20 genes causally involved in human hereditary insensitivity to pain with the knowledge about the functions of thousands of genes. An integrated computational analysis proposed that among the functions of this set of genes, the processes related to nervous system development and to ceramide and sphingosine signaling pathways are particularly important. This is in line with earlier suggestions to use these pathways as therapeutic target in pain. Following identification of the biological processes characterizing hereditary insensitivity to pain, the biological processes were used for a similarity analysis with the functions of n = 4,834 database-queried drugs. Using emergent self-organizing maps, a cluster of n = 22 drugs was identified sharing important functional features with hereditary insensitivity to pain. Several members of this cluster had been implicated in pain in preclinical experiments. Thus, the present concept of machine-learned knowledge discovery for pain research provides biologically plausible results and seems to be suitable for drug discovery by identifying a narrow choice of repurposing candidates, demonstrating that contemporary machine-learned methods offer innovative approaches to knowledge discovery from available evidence.

  13. Goat′s eye integrated with a human cataractous lens: A training model for phacoemulsification

    Directory of Open Access Journals (Sweden)

    Sabyasachi Sengupta

    2015-01-01

    Full Text Available A relatively simple and inexpensive technique to train surgeons in phacoemulsification using a goat′s eye integrated with a human cataractous nucleus is described. The goat′s eye is placed on a bed of cotton within the lumen of a cylindrical container. This is then mounted on a rectangular thermocol so that the limbus is presented at the surgical field. After making a clear corneal entry with a keratome, the trainer makes a 5-5.5 mm continuous curvilinear capsulorhexis in the anterior lens capsule, creates a crater of adequate depth in the cortex and inserts the human nucleus within this crater in the goat′s capsular bag. The surgical wound is sutured, and the goat′s eye is ready for training. Creating the capsulorhexis with precision and making the crater of adequate depth to snugly accommodate the human nucleus are the most important steps to prevent excessive wobbling of the nucleus while training.

  14. The cataract-associated V41M mutant of human γS-crystallin shows specific structural changes that directly enhance local surface hydrophobicity

    Energy Technology Data Exchange (ETDEWEB)

    Bharat, Somireddy Venkata; Shekhtman, Alexander; Pande, Jayanti, E-mail: jpande@albany.edu

    2014-01-03

    Highlights: •We present NMR analysis of V41M, a cataract-causing mutant of human γS-crystallin. •Mutation alters strand–strand interactions throughout the N-terminal domain. •Mutation directly affects Trp46 due to key Met41-S–Trp46-pi interactions. •We identify the basis of the surface hydrophobicity increase and residues involved. -- Abstract: The major crystallins expressed in the human lens are γS-, γC- and γD-crystallins. Several mutations in γS-crystallin are associated with hereditary cataracts, one of which involves the substitution of a highly conserved Valine at position 41 to Methionine. According to a recent report, the mutant protein, V41M, shows lower stability and increased surface hydrophobicity compared to the wild-type, and a propensity for self-aggregation. Here we address the structural differences between the two proteins, with residue-level specificity using NMR spectroscopy. Based on the structural model of the mutant protein, our results clearly show that the mutation creates a major local perturbation almost at the junction of the first and second “Greek-key” motifs in the N-terminal domain. A larger section of the second motif (residues 44–86) appears to be mainly affected. Based on the sizeable chemical shift of the imino proton of the indole side-chain of Trp46 in V41M, we suggest that the sulphur atom of Met41 is involved in an S–π interaction with Trp46. This interaction would bring the last β-strand of the first “Greek-key” motif closer to the first β-strand of the second motif. This appears to lead to a domino effect, towards both the N- and C-terminal ends, even as it decays off substantially beyond the domain interface. During this process discreet hydrophobic surface patches are created, as revealed by ANS-binding. Such changes would not affect the secondary structure or cause a major change in the tertiary structure, but can lead to self-aggregation or aberrant binding interactions of the mutant

  15. Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardation

    Directory of Open Access Journals (Sweden)

    Chograni Manèl

    2011-11-01

    Full Text Available Abstract Background To identify the genetic defect associated with autosomal recessive congenital cataract (ARCC, mental retardation (MR and ARCC, MR and microcephaly present in most patients in four Tunisian consanguineous families. Methods We screened four genes implicated in congenital cataract by direct sequencing in two groups of patients; those affected by ARCC associated to MR and those who presented also microcephaly. Among its three genes PAX6, PITX3 and HSF4 are expressed in human brain and one gene LIM2 encodes for the protein MP20 that interact with the protein galectin-3 expressed in human brain and plays a crucial role in its development. All genes were screened by direct sequencing in two groups of patients; those affected by ARCC associated to MR and those who presented also microcephaly. Results We report no mutation in the four genes of congenital cataract and its flanking regions. Only variations that did not segregate with the studied phenotypes (ARCC associated to MR, ARCC associated with MR and microcephaly are reported. We detected three intronic variations in PAX6 gene: IVS4 -274insG (intron 4, IVS12 -174G>A (intron12 in the four studied families and IVS4 -195G>A (intron 4 in two families. Two substitutions polymorphisms in PITX3 gene: c.439 C>T (exon 3 and c.930 C>A (exon4 in one family. One intronic variation in HSF4 gene: IVS7 +93C>T (intron 7 identified in one family. And three intronic substitutions in LIM2 gene identified in all four studied families: IVS2 -24A>G (intron 2, IVS4 +32C>T (intron 4 and c.*15A>C (3'-downstream sequence. Conclusion Although the role of the four studied genes: PAX6, PITX3, HSF4 and LIM2 in both ocular and central nervous system development, we report the absence of mutations in all studied genes in four families with phenotypes associating cataract, MR and microcephaly.

  16. Hereditary Pancreatitis

    Science.gov (United States)

    ... E-News Sign-Up Home Hereditary Pancreatitis Hereditary Pancreatitis Hereditary Pancreatitis (HP) is a rare genetic condition characterized by ... of pancreatic attacks, which can progress to chronic pancreatitis . Symptoms include abdominal pain, nausea, and vomiting. Onset ...

  17. A silent mutation in human alpha-A crystallin gene in patients with age-related nuclear or cortical cataract

    Directory of Open Access Journals (Sweden)

    Bharani K Mynampati

    2017-05-01

    Full Text Available A cataract is a complex multifactorial disease that results from alterations in the cellular architecture, i.e. lens proteins. Genes associated with the development of lens include crystallin genes. Although crystallins are highly conserved proteins among vertebrates, a significant number of polymorphisms exist in human population. In this study, we screened for polymorphisms in crystallin alpha A (CRYAA and alpha B (CRYAB genes in 200 patients over 40 years of age, diagnosed with age-related cataract (ARC; nuclear and cortical cataracts. Genomic DNA was extracted from the peripheral blood. The coding regions of the CRYAA and CRYAB gene were amplified using polymerase chain reaction and subjected to restriction digestion. Restriction fragment length polymorphism (RFLP was performed using known restriction enzymes for CRYAA and CRYAB genes. Denaturing high performance liquid chromatography and direct sequencing were performed to detect sequence variation in CRYAA gene. In silico analysis of secondary CRYAA mRNA structure was performed using CLC RNA Workbench. RFLP analysis did not show any changes in the restriction sites of CRYAA and CRYAB genes. In 6 patients (4 patients with nuclear cataract and 2 with cortical cataract, sequence analysis of the exon 1 in the CRYAA gene showed a silent single nucleotide polymorphism [D2D] (CRYAA: C to T transition. One of the patients with nuclear cataract was homozygous for this allele. The in silico analysis revealed that D2D mutation results in a compact CRYAA mRNA secondary structure, while the wild type CRYAA mRNA has a weak or loose secondary structure. D2D mutation in the CRYAA gene may be an additional risk factor for progression of ARC.

  18. The oxidized thiol proteome in aging and cataractous mouse and human lens revealed by ICAT labeling.

    Science.gov (United States)

    Wang, Benlian; Hom, Grant; Zhou, Sheng; Guo, Minfei; Li, Binbin; Yang, Jing; Monnier, Vincent M; Fan, Xingjun

    2017-04-01

    Age-related cataractogenesis is associated with disulfide-linked high molecular weight (HMW) crystallin aggregates. We recently found that the lens crystallin disulfidome was evolutionarily conserved in human and glutathione-depleted mouse (LEGSKO) cataracts and that it could be mimicked by oxidation in vitro (Mol. Cell Proteomics, 14, 3211-23 (2015)). To obtain a comprehensive blueprint of the oxidized key regulatory and cytoskeletal proteins underlying cataractogenesis, we have now used the same approach to determine, in the same specimens, all the disulfide-forming noncrystallin proteins identified by ICAT proteomics. Seventy-four, 50, and 54 disulfide-forming proteins were identified in the human and mouse cataracts and the in vitro oxidation model, respectively, of which 17 were common to all three groups. Enzymes with oxidized cysteine at critical sites include GAPDH (hGAPDH, Cys247), glutathione synthase (hGSS, Cys294), aldehyde dehydrogenase (hALDH1A1, Cys126 and Cys186), sorbitol dehydrogenase (hSORD, Cys140, Cys165, and Cys179), and PARK7 (hPARK7, Cys46 and Cys53). Extensive oxidation was also present in lens-specific intermediate filament proteins, such as BFSP1 and BFSP12 (hBFSP1 and hBFSP12, Cys167, Cys65, and Cys326), vimentin (mVim, Cys328), and cytokeratins, as well as microfilament and microtubule filament proteins, such as tubulin and actins. While the biological impact of these modifications for lens physiology remains to be determined, many of these oxidation sites have already been associated with either impaired metabolism or cytoskeletal architecture, strongly suggesting that they have a pathogenic role in cataractogenesis. By extrapolation, these findings may be of broader significance for age- and disease-related dysfunctions associated with oxidant stress. © 2016 The Authors. Aging Cell published by the Anatomical Society and John Wiley & Sons Ltd.

  19. Comparative analysis of human tissue interactomes reveals factors leading to tissue-specific manifestation of hereditary diseases.

    Directory of Open Access Journals (Sweden)

    Ruth Barshir

    2014-06-01

    Full Text Available An open question in human genetics is what underlies the tissue-specific manifestation of hereditary diseases, which are caused by genomic aberrations that are present in cells across the human body. Here we analyzed this phenomenon for over 300 hereditary diseases by using comparative network analysis. We created an extensive resource of protein expression and interactions in 16 main human tissues, by integrating recent data of gene and protein expression across tissues with data of protein-protein interactions (PPIs. The resulting tissue interaction networks (interactomes shared a large fraction of their proteins and PPIs, and only a small fraction of them were tissue-specific. Applying this resource to hereditary diseases, we first show that most of the disease-causing genes are widely expressed across tissues, yet, enigmatically, cause disease phenotypes in few tissues only. Upon testing for factors that could lead to tissue-specific vulnerability, we find that disease-causing genes tend to have elevated transcript levels and increased number of tissue-specific PPIs in their disease tissues compared to unaffected tissues. We demonstrate through several examples that these tissue-specific PPIs can highlight disease mechanisms, and thus, owing to their small number, provide a powerful filter for interrogating disease etiologies. As two thirds of the hereditary diseases are associated with these factors, comparative tissue analysis offers a meaningful and efficient framework for enhancing the understanding of the molecular basis of hereditary diseases.

  20. Comparative analysis of human tissue interactomes reveals factors leading to tissue-specific manifestation of hereditary diseases.

    Science.gov (United States)

    Barshir, Ruth; Shwartz, Omer; Smoly, Ilan Y; Yeger-Lotem, Esti

    2014-06-01

    An open question in human genetics is what underlies the tissue-specific manifestation of hereditary diseases, which are caused by genomic aberrations that are present in cells across the human body. Here we analyzed this phenomenon for over 300 hereditary diseases by using comparative network analysis. We created an extensive resource of protein expression and interactions in 16 main human tissues, by integrating recent data of gene and protein expression across tissues with data of protein-protein interactions (PPIs). The resulting tissue interaction networks (interactomes) shared a large fraction of their proteins and PPIs, and only a small fraction of them were tissue-specific. Applying this resource to hereditary diseases, we first show that most of the disease-causing genes are widely expressed across tissues, yet, enigmatically, cause disease phenotypes in few tissues only. Upon testing for factors that could lead to tissue-specific vulnerability, we find that disease-causing genes tend to have elevated transcript levels and increased number of tissue-specific PPIs in their disease tissues compared to unaffected tissues. We demonstrate through several examples that these tissue-specific PPIs can highlight disease mechanisms, and thus, owing to their small number, provide a powerful filter for interrogating disease etiologies. As two thirds of the hereditary diseases are associated with these factors, comparative tissue analysis offers a meaningful and efficient framework for enhancing the understanding of the molecular basis of hereditary diseases.

  1. Hereditary Spherocytosis Unmasked by Human Parvovirus B19 Induced Aplastic Crisis in a Family

    Directory of Open Access Journals (Sweden)

    Samin Alavi

    2015-09-01

    Full Text Available Human parvovirus (HPV B19 induced aplastic crisis in a family leading to the diagnosis of hereditary spherocytosis (HS is a very rare condition being barely reported in the literature. We herein report a 4-year-old girl, her brother, and their mother who all presented with progressive pallor and jaundice after a febrile illness. The HPV B19 was diagnosed using polymerase chain reaction (PCR and positive serology for specific anti-HPV B19 IgM. They were further diagnosed with having HS. The clinical importance of this report is that in the case of an abrupt onset of unexplained severe anemia and jaundice, one should consider underlying hemolytic anemias mostly hereditary spherocytosis complicated by HPV B19 aplastic crisis. Herein, we report the occurrence of this condition, simultaneously in three members of a family. The distinguished feature of this report is that all affected family members developed some degrees of transient pancytopenia, not only anemia, all simultaneously in the course of their disease.

  2. Cataracts in transgenic mice caused by a human papillomavirus type 18 E7 oncogene driven by KRT1-14.

    Science.gov (United States)

    Ghim, Shinje; Jenson, A Bennett; Bubier, Jason A; Silva, Kathleen A; Smith, Richard S; Sundberg, John P

    2008-10-01

    Human papillomavirus type 18 (HPV18) is a common cause of cervical cancer. To create a mouse model for this common neoplastic disease, we used a human keratin 14 promoter to drive the HPV18 E7 oncogene to create transgenic mice. No mice up to a year of age developed cervical cancer. However, all transgenic mice and none of the controls developed progressive bilateral cortical cataracts. By 6 months of age, the cortex liquefied leaving the lens nucleus. Proliferation of lens epithelium formed multifocal nodules and free floating lens epithelial cells within the liquefied cortex. These cells were hyperplastic not neoplastic. Other HPV transgenic stocks develop cataracts suggesting this virus may have a broad cellular tropism.

  3. Solar ultraviolet radiation cataract.

    Science.gov (United States)

    Löfgren, Stefan

    2017-03-01

    Despite being a treatable disease, cataract is still the leading cause for blindness in the world. Solar ultraviolet radiation is epidemiologically linked to cataract development, while animal and in vitro studies prove a causal relationship. However, the pathogenetic pathways for the disease are not fully understood and there is still no perfect model for human age related cataract. This non-comprehensive overview focus on recent developments regarding effects of solar UV radiation wavebands on the lens. A smaller number of fundamental papers are also included to provide a backdrop for the overview. Future studies are expected to further clarify the cellular and subcellular mechanisms for UV radiation-induced cataract and especially the isolated or combined temporal and spatial effects of UVA and UVB in the pathogenesis of human cataract. Regardless of the cause for cataract, there is a need for advances in pharmaceutical or other treatment modalities that do not require surgical replacement of the lens. Copyright © 2016. Published by Elsevier Ltd.

  4. YAG:Er laser device for microsurgery treatment of a human lens cataract

    Science.gov (United States)

    Kamensky, Vladislav A.; Gelikonov, Valentin M.; Gelikonov, Grigory V.; Feldchtein, Felix I.; Sergeev, Alexander M.; Pravdenko, Kirill I.; Artemiev, Nikolai; Bityurin, Nikita M.; Skripachev, I. V.; Snopatin, G. E.

    1997-04-01

    We have designed a laser complex which is a combination of a YAG:Er laser operating in the free-running mode, a radiation delivery system based on a chalcogenide fiber with uniquely high damage threshold, and a diagnostic optical coherent tomography (OCT) device for in situ monitoring of surface layers of the tissue under treatment. A flexible chalcogenide glass multimode fiber operates with pulse energy 150 mJ at a repetition rate of 3 Hz. Neither degradation nor laser damage were observed after transmission of 104 laser pulses through the fiber delivery instrument. This complex was employed to study the effect of YAG:Er laser radiation on a cataract-suffered human lens. The laser ablation process has been monitored by OCT. During the lens treatment the image of ablation crater and inner layers with a scanning depth of several millimeters and spatial resolution of 15 micrometers was available. The kinetics of pulse-to-pulse ablation crater growth a well as of the adjacent thermally damaged zone formation were investigated.

  5. Molecular biology methods in assessing radiation-induced hereditary risks in humans

    Energy Technology Data Exchange (ETDEWEB)

    Kiuru, A. [University of Helsinki, Department of Biosciences, Division of Genetics, Helsinki (Finland)

    2004-12-01

    Effort to predict the genetic consequences for humans of exposure to ionising radiation has been one of the most important issues of human genetics over the past 60 years. To date, there has been little experimental knowledge on the genetic risks of human exposure to ionising radiation. Radiation-induced deleterious hereditary effects have not been detected in human populations - not even among the offspring of atomic bomb survivors in Hiroshima and Nagasaki. This does not mean deleterious hereditary effects do not exist in humans, but rather that they are small and/or difficult to detect because the normal incidence of inherited abnormalities is quite high in the human population. Thus, assessment of radiation-induced hereditary risks in humans has been based on the common knowledge of human heredity and on animal experiments. However, recent data have suggested that hyper-variable tandem repeat minisatellite loci provide a useful and sensitive experimental approach for monitoring radiation-induced germline mutations in humans. In order to investigate the feasibility of the minisatellite mutation screening system in assessing radiation-induced hereditary risks in humans, we examined the amount of hereditary minisatellite mutations among the offspring of Estonian Chernobyl cleanup workers. The men studied received a median radiation dose of 109 mSv while working on the cleanup activities after the Chernobyl accident. We compared the minisatellite mutation rates of 155 children born to 147 Estonian Chernobyl cleanup workers after the accident to those of their 148 siblings born prior to it. In addition, 44 Estonian families, where the father had not been exposed to radiation, composed an additional control group. In all of these families, the paternity of the children was ascertained by using 5 minisatellite loci (APOB, HRAS, MCOB19, MCT118, and YNZ-22) in PCR-based analyses. Other 8 minisatellite loci (B6.7, CEB1, CEB15, CEB25, CEB36, MS1, MS31, and MS32) were used

  6. HEREDITARY BREAST CANCER

    Directory of Open Access Journals (Sweden)

    E. M. Bit-Sava

    2013-01-01

    Full Text Available Hereditary breast cancer occurs in 5–20 % of cases and it is associated with inherited mutations in particular genes, such as BRCA1 и BRCA2 in most cases. The CHEK2, PTEN, TP53, ATM, RAD51, BLM, PALB2, Nbs genes are associated with low and median risks ofdeveloping breast cancer. Molecular genetic studies identify germinal mutations underlying hereditary breast cancer. In most cases hereditary breast cancer refers to triple-negative phenotype, which is the most aggressive type of breast cancer, that does not express the genes for estrogen receptor, progesterone receptor and human epidermal growth factor receptor 2 (HER2. The review presents the diagnostic and treatment methods of hereditary breast cancer. Clinical-morphological aspects allow the new diagnostic and treatment methods of hereditary breast cancer to be identified. Poly (ADP-ribose polymerase (PARP inhibitors demonstrate the potential for effective treatment of BRCA-associated breast cancer.

  7. Effect of biometric characteristics on the change of biomechanical properties of the human cornea due to cataract surgery.

    Science.gov (United States)

    Song, Xuefei; Langenbucher, Achim; Gatzioufas, Zisis; Seitz, Berthold; El-Husseiny, Moatasem

    2014-01-01

    To determine the impact of biometric characteristics on changes of biomechanical properties of the human cornea due to standard cataract surgery using biomechanical analysis. This prospective consecutive cross-sectional study comprised 54 eyes with cataract in stages I or II that underwent phacoemulsification and IOL implantation. CH, CRF, IOPg, and IOPcc intraocular pressure were measured by biomechanical analysis preoperatively and at 1 month postoperatively. Changes (Δ) were calculated as preoperative value versus postoperative value. Biometrical data were extracted from TMS-5 (CSI and SAI), IOLMaster (AL), and EM-3000 (CCT and ECC) preoperatively. The average values of the changes were ΔCH = -0.45 ± 1.27 mmHg, ΔCRF = -0.88 ± 1.1 mmHg, ΔIOPg = -1.58 ± 3.15 mmHg, and ΔIOPcc = -1.45 ± 3.93 mmHg. The higher the CSI the smaller the decrease in CH (r = 0.302, P = 0.028). The higher the CCT the larger the decrease in CRF (r = -0.371, P = 0.013). The higher the AL the smaller the decrease in IOPg (r = 0.417, P = 0.005). The higher the AL, SAI, and EEC the smaller the decrease in IOPcc (r = 0.351, P = 0.001; r = -0.478, P biomechanical properties were affected by comprehensive factors after cataract surgery, including corneal endothelium properties, biometry, and geometrical characteristics.

  8. Simple fixation and storage protocol for preserving the internal structure of intact human donor lenses and extracted human nuclear cataract specimens.

    Science.gov (United States)

    Mohamed, Ashik; Gilliland, Kurt O; Metlapally, Sangeetha; Johnsen, Sönke; Costello, M Joseph

    2013-01-01

    Increased use of phacoemulsification procedures for cataract surgeries has resulted in a dramatic decrease in the availability of cataractous nuclear specimens for basic research into the mechanism of human cataract formation. To overcome such difficulties, a fixation protocol was developed to provide good initial fixation of human donor lenses and extracted nuclei, when available, and is suitable for storing or shipping cataracts to laboratories where structural studies could be completed. Cataractous lens nuclei (n=19, ages 12 to 74 years) were obtained from operating suites after extracapsular extraction. Transparent human donor lenses (n=27, ages 22 to 92 years) were obtained from the Ramayamma International Eye Bank. After the dimensions were measured with a digital caliper, samples were preserved in 10% formalin (neutral buffered) for 24 h and followed by fixation in 4% paraformaldehyde (pH 7.2) for 48 h. Samples were stored cold (4 °C) in buffer until shipped. Samples were photographed and measured before further processing for transmission electron microscopy. The dimensions of the samples varied slightly after short fixation followed by 1 to 5 months' storage before transmission electron microscopy processing. The mean change in the axial thickness of the donor lenses was 0.15±0.21 mm or 3.0±5.4%, while that of the extracted nuclei was 0.05±0.24 mm or 1.8±7.6%. Because the initial concern was whether the nuclear core was preserved, thin sections were examined from the embryonic and fetal nuclear regions. All cellular structures were preserved, including the cytoplasm, complex edge processes, membranes, and junctions. The preservation quality was excellent and nearly equivalent to preservation of fresh lenses even for the lens cortex. Cell damage characteristic of specific nuclear cataract types was easily recognized. The novel fixation protocol appears effective in preserving whole donor lenses and cataractous nuclei over a wide age range. Dimensions

  9. Crystallins in water soluble-high molecular weight protein fractions and water insoluble protein fractions in aging and cataractous human lenses.

    Science.gov (United States)

    Harrington, Veronica; McCall, Shantis; Huynh, Sy; Srivastava, Kiran; Srivastava, Om P

    2004-07-19

    The aim of the study was to comparatively analyze crystallin fragments in the water soluble high molecular weight (WS-HMW) and in the water insoluble (WI) protein fractions of human cataractous (with nuclear opacity) and age matched normal lenses to determine the identity of crystallin species that show cataract specific changes such as truncation and post-translational modifications. Because these changes were cataract specific and not aging specific, the results were expected to provide information regarding potential mechanisms of age related cataract development. The WS-alpha-crystallin, WS-HMW protein, and WI protein fractions were isolated from normal lenses of different ages and from cataractous lenses. The three fractions were subjected to two dimensional (2D) gel electrophoresis (IEF in the first dimension and SDS-PAGE in the second dimension). Individual spots from 2D gels were trypsin digested and the tryptic fragments were analyzed by matrix-assisted laser desorption ionization-time of flight (MALDI-TOF) mass spectrometry. The 2D protein profiles of WS-alpha-crystallin fractions of normal human lenses showed an age related increase in the number of crystallin fragments. In young normal lenses, the WS-alpha-crystallin fragments were mostly C-terminally truncated, but in older lenses these were both N- and C-terminally truncated. The WS-HMW protein fraction from normal lenses contained mainly fragments of alphaA- and alphaB-crystallin, whereas additional fragments of betaB1- and betaA3-crystallin were present in this fraction from cataractous lenses. Similarly, the WI proteins in normal lenses contained fragments of alphaA- and alphaB-crystallin, but cataractous lenses contained additional fragments of betaA3- and betaB1-crystallin. The modifications identified in the WS-HMW and WI crystallin species of cataractous lenses were truncation, oxidation of Trp residues, and deamidation of Asn to Asp residues. The results show that the components of WS-HMW and

  10. Cataract removal

    Science.gov (United States)

    ... eye diseases and eye surgery. Adults are usually awake for the procedure. Numbing medicine (local anesthesia) is ... removed. Tips for recovering after cataract surgery: Wear dark sunglasses outside after you remove the patch. Wash ...

  11. A COMBINED SCANNING AND TRANSMISSION ELECTRON-MICROSCOPIC INVESTIGATION OF HUMAN (SECONDARY) CATARACT MATERIAL

    NARCIS (Netherlands)

    JONGEBLOED, WL; KALICHARAN, D; LOS, LI; VANDERVEEN, G; WORST, JGF

    1991-01-01

    Cataract lenses from patients of advanced age were processed for SEM by standard pre-fixation followed by treatment by the Tannine-Arginine-Osmiumtetroxide (TAO) method and critical point drying, and for TEM by standard pre-fixation followed by vibratomation, standard post-fixation, ultramicrotome

  12. Cataract Vision Simulator

    Science.gov (United States)

    ... and Videos: What Do Cataracts Look Like? Cataract Vision Simulator Leer en Español: Simulador: Catarata Jun. 11, 2014 How do cataracts affect your vision? A cataract is a clouding of the eye's ...

  13. Iron metabolism in mynah birds (Gracula religiosa) resembles human hereditary haemochromatosis.

    Science.gov (United States)

    Mete, A; Hendriks, H G; Klaren, P H M; Dorrestein, G M; van Dijk, J E; Marx, J J M

    2003-12-01

    Iron overload is a very frequent finding in several animal species and a genetic predisposition is suggested. In one of the most commonly reported species with susceptibility for iron overload (mynah bird), it was recently shown that the cause of this pathophysiology is high uptake and retention of dietary iron. Here we compare susceptible (mynahs) with non-susceptible avian species (chickens) by evaluating iron uptake at the intestinal absorptive cell level. Enterocytes from mynahs and chickens were isolated and uptake of Fe(II) and Fe(III) was studied in vitro. It was found that Fe(III) uptake is much lower than Fe(II) uptake for both species. Although liver iron, present only in hepatocytes, was at least 10-fold higher in mynahs than chickens, enterocyte Fe(II) uptake was considerably higher in mynahs. Fe(II) uptake showed saturation at the studied concentrations in both species. Kinetic studies revealed a three-fold increase in Vmax for mynahs. Calculated values for the uptake kinetics of the probable membrane transporter suggest that mynah bird enterocytes have a significantly higher limiting uptake rate, due to the possible increase in the number of transporters when compared with chicken enterocytes. The susceptibility of this species is due to intestinal iron uptake despite hepatic iron accumulation, implicating a 'mis-sensing' of body iron similarly to human hereditary haemochromatosis.

  14. Human extraocular muscles in mitochondrial diseases: comparing chronic progressive external ophthalmoplegia with Leber's hereditary optic neuropathy.

    Science.gov (United States)

    Carta, A; Carelli, V; D'Adda, T; Ross-Cisneros, F N; Sadun, A A

    2005-07-01

    To compare the ultrastructural aspects of human extraocular muscles in two types of mitochondrial disease: chronic progressive external ophthalmoplegia (CPEO) and Leber's hereditary optic neuropathy (LHON). Muscle samples of the medial rectus obtained from surgery in a sporadic case of CPEO associated with deleted mitochondrial DNA, and post mortem in a case of 3460/ND1 LHON were processed for electron microscopy (EM). The medial rectus from an autoptic time to fixation matched control was used to exclude postmortem artefacts. The CPEO specimen revealed focal areas of disruption and abnormalities of mitochondria in some muscle fibres, creating a "mosaic-like" pattern. In the LHON specimen a diffuse increase in both number and size of mitochondria (mean diameter 0.85 mum v 0.65 mum of control, pCPEO and LHON reveals marked differences. A "mosaic-like" pattern caused by a selective damage of muscle fibres was evident in CPEO, whereas a diffuse increase in mitochondria with preservation of myofibrils characterised the LHON case. These ultrastructural changes may relate to the different expression of the two diseases, resulting in ophthalmoplegia in CPEO and normal eye movements in LHON.

  15. Laser interferential diagnostics of retinal visual acuity of the human eye with cataract

    Science.gov (United States)

    Chaussky, Anatoly A.; Ryabukho, Vladimir P.; Tuchin, Valery V.; Akchurin, Garif G.; Bakutkin, Valery V.; Radchenko, Elena Y.; Nazaryants, Vitaly

    1999-04-01

    In the paper theoretical and experimental study of forming of interference pattern with a high contrast at the retina cataractous eye is presented. The high contrast of retinal fringes is reached by control of the parameters of incident beam with regular interference fringes. Experimental result have been done for the model objects that can be described in the framework of 'random phase screen' approximation. Some recommendations for clinical application are suggested.

  16. Modeling Axonal Defects in Hereditary Spastic Paraplegia with Human Pluripotent Stem Cells

    Science.gov (United States)

    Denton, Kyle R.; Xu, Chongchong; Shah, Harsh; Li, Xue-Jun

    2016-01-01

    BACKGROUND Cortical motor neurons, also known as upper motor neurons, are large projection neurons whose axons convey signals to lower motor neurons to control the muscle movements. Degeneration of cortical motor neuron axons is implicated in several debilitating disorders, including hereditary spastic paraplegia (HSP) and amyotrophic lateral sclerosis (ALS). Since the discovery of the first HSP gene, SPAST that encodes spastin, over 70 distinct genetic loci associated with HSP have been identified. How the mutations of these functionally diverse genes result in axonal degeneration and why certain axons are affected in HSP remains largely unknown. The development of induced pluripotent stem cell (iPSC) technology has provided researchers an excellent resource to generate patient-specific human neurons to model human neuropathologic processes including axonal defects. METHODS In this article, we will frst review the pathology and pathways affected in the common forms of HSP subtypes by searching the PubMed database. We will then summurize the findings and insights gained from studies using iPSC-based models, and discuss the challenges and future directions. RESULTS HSPs, a heterogeneous group of genetic neurodegenerative disorders, are characterized by lower extremity weakness and spasticity that result from retrograde axonal degeneration of cortical motor neurons. Recently, iPSCs have been generated from several common forms of HSP including SPG4, SPG3A, and SPG11 patients. Neurons derived from HSP iPSCs exhibit disease-relevant axonal defects, such as impaired neurite outgrowth, increased axonal swellings, and reduced axonal transport. CONCLUSION These patient-derived neurons offer unique tools to study the pathogenic mechanisms and explore the treatments for rescuing axonal defects in HSP, as well as other diseases involving axonopathy. PMID:27956894

  17. Enzyme activities in human lens epithelium of age-related cataract.

    Science.gov (United States)

    Belpoliti, M; Maraini, G; Alberti, G; Corona, R; Crateri, S

    1993-09-01

    To investigate associations between enzyme activity of glutathione reductase (GR) with and without added flavin adenine dinucleotide (FAD), glutathione peroxidase (GPX), and 6-phosphogluconic dehydrogenase (6PGDH) in the lens epithelium collected at surgery, and some nutritional and biochemical variables determined in the same individuals during the Italian-American Case-Control Study of age-related cataract. One hundred eighty-three epithelium capsule samples were collected from 174 patients undergoing surgery. Data on enzyme activity were obtained from 52 samples for 6-PGDH and from 53 samples for GR and for GPX. The Lens Opacity Classification System II was used to classify and grade cataracts. No correlation was found between enzyme activity in lens epithelium and the same enzymatic activity in erythrocytes (with the exception of a negative correlation between lens and erythrocyte 6PGDH activity), or the type and severity of cataract. No correlation was found between lens GPX activity and plasma selenium and between lens GR activation coefficient (GRAC) and riboflavin intake. Lens GR with added FAD and lens GRAC were significantly correlated to plasma vitamin E level. Lens GRAC was positively correlated to a nutritional vitamin index. Present data stress the difficulty in verifying the assumption that biochemical indices collected on plasma and on erythrocyte actually reflect the status of these factors in the lens itself.

  18. Effect of Biometric Characteristics on the Change of Biomechanical Properties of the Human Cornea due to Cataract Surgery

    Directory of Open Access Journals (Sweden)

    Xuefei Song

    2014-01-01

    Full Text Available Purpose. To determine the impact of biometric characteristics on changes of biomechanical properties of the human cornea due to standard cataract surgery using biomechanical analysis. Patients and Methods. This prospective consecutive cross-sectional study comprised 54 eyes with cataract in stages I or II that underwent phacoemulsification and IOL implantation. CH, CRF, IOPg, and IOPcc intraocular pressure were measured by biomechanical analysis preoperatively and at 1 month postoperatively. Changes (Δ were calculated as preoperative value versus postoperative value. Biometrical data were extracted from TMS-5 (CSI and SAI, IOLMaster (AL, and EM-3000 (CCT and ECC preoperatively. Results. The average values of the changes were ΔCH=-0.45±1.27 mmHg, ΔCRF=-0.88±1.1 mmHg, ΔIOPg=-1.58±3.15 mmHg, and ΔIOPcc=-1.45±3.93 mmHg. The higher the CSI the smaller the decrease in CH (r=0.302, P=0.028. The higher the CCT the larger the decrease in CRF (r=-0.371, P=0.013. The higher the AL the smaller the decrease in IOPg (r=0.417, P=0.005. The higher the AL, SAI, and EEC the smaller the decrease in IOPcc (r=0.351, P=0.001; r=-0.478, P<0.001; r=0.339, P=0.013. Conclusions. Corneal biomechanical properties were affected by comprehensive factors after cataract surgery, including corneal endothelium properties, biometry, and geometrical characteristics.

  19. The Analysis of Intracellular and Intercellular Calcium Signaling in Human Anterior Lens Capsule Epithelial Cells with Regard to Different Types and Stages of the Cataract

    Science.gov (United States)

    Gosak, Marko; Markovič, Rene; Fajmut, Aleš; Marhl, Marko; Hawlina, Marko; Andjelić, Sofija

    2015-01-01

    In this work we investigated how modifications of the Ca2+ homeostasis in anterior lens epithelial cells (LECs) are associated with different types of cataract (cortical or nuclear) and how the progression of the cataract (mild or moderate) affects the Ca2+ signaling. We systematically analyzed different aspects of intra- and inter-cellular Ca2+ signaling in the human LECs, which are attached to surgically isolated lens capsule (LC), obtained during cataract surgery. We monitored the temporal and spatial changes in intracellular Ca2+ concentration after stimulation with acetylcholine by means of Fura-2 fluorescence captured with an inverted microscope. In our analysis we compared the features of Ca2+ signals in individual cells, synchronized activations, spatio-temporal grouping and the nature of intercellular communication between LECs. The latter was assessed by using the methodologies of the complex network theory. Our results point out that at the level of individual cells there are no significant differences when comparing the features of the signals with regard either to the type or the stage of the cataract. On the other hand, noticeable differences are observed at the multicellular level, despite inter-capsule variability. LCs associated with more developed cataracts were found to exhibit a slower collective response to stimulation, a less pronounced spatio-temporal clustering of LECs with similar signaling characteristics. The reconstructed intercellular networks were found to be sparser and more segregated than in LCs associated with mild cataracts. Moreover, we show that spontaneously active LECs often operate in localized groups with quite well aligned Ca2+ activity. The presence of spontaneous activity was also found to affect the stimulated Ca2+ responses of individual cells. Our findings indicate that the cataract progression entails the impairment of intercellular signaling thereby suggesting the functional importance of altered Ca2+ signaling of

  20. Hereditary Neuropathies

    Science.gov (United States)

    ... the appearance of an inverted champagne glass) or scoliosis (curvature of the spine). The symptoms of hereditary neuropathies may be apparent ... the appearance of an inverted champagne glass) or scoliosis (curvature of the spine). The symptoms of hereditary neuropathies may be apparent ...

  1. Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria.

    Science.gov (United States)

    Schmitt, Caroline; Gouya, Laurent; Malonova, Eva; Lamoril, Jérôme; Camadro, Jean-Michel; Flamme, Magali; Rose, Christian; Lyoumi, Said; Da Silva, Vasco; Boileau, Catherine; Grandchamp, Bernard; Beaumont, Carole; Deybach, Jean-Charles; Puy, Hervé

    2005-10-15

    Hereditary coproporphyria (HCP), an autosomal dominant acute hepatic porphyria, results from mutations in the gene that encodes coproporphyrinogen III oxidase (CPO). HCP (heterozygous or rarely homozygous) patients present with an acute neurovisceral crisis, sometimes associated with skin lesions. Four patients (two families) have been reported with a clinically distinct variant form of HCP. In such patients, the presence of a specific mutation (K404E) on both alleles or associated with a null allele, produces a unifying syndrome in which hematological disorders predominate: 'harderoporphyria'. Here, we report the fifth case (from a third family) with harderoporphyria. In addition, we show that harderoporphyric patients exhibit iron overload secondary to dyserythropoiesis. To investigate the molecular basis of this peculiar phenotype, we first studied the secondary structure of the human CPO by a predictive method, the hydrophobic cluster analysis (HCA) which allowed us to focus on a region of the enzyme. We then expressed mutant enzymes for each amino acid of the region of interest, as well as all missense mutations reported so far in HCP patients and evaluated the amount of harderoporphyrin in each mutant. Our results strongly suggest that only a few missense mutations, restricted to five amino acids encoded by exon 6, may accumulate significant amounts of harderoporphyrin: D400-K404. Moreover, all other type of mutations or missense mutations mapped elsewhere throughout the CPO gene, lead to coproporphyrin accumulation and subsequently typical HCP. Our findings, reinforced by recent crystallographic results of yeast CPO, shed new light on the genetic predisposition to HCP. It represents a first monogenic metabolic disorder where clinical expression of overt disease is dependent upon the location and type of mutation, resulting either in acute hepatic or in erythropoietic porphyria.

  2. R2*-relaxometry of the pancreas in patients with human hemochromatosis protein associated hereditary hemochromatosis.

    Science.gov (United States)

    Henninger, B; Rauch, S; Zoller, H; Plaikner, M; Jaschke, W; Kremser, C

    2017-04-01

    To evaluate pancreatic iron in patients with human hemochromatosis protein associated hereditary hemochromatosis (HHC) using R2* relaxometry. 81 patients (58 male, 23 female; median age 49.5, range 10-81 years) with HHC were retrospectively studied. All underwent 1.5T magnetic resonance imaging (MRI) of the abdomen. A fat-saturated multi-gradient echo sequence with 12 echoes (TR=200ms; TE-initial 0.99ms; Delta-TE 1.41ms; 12 echoes; flip-angle: 20°) was used for the R2* quantification of the liver and the pancreas. Parameter maps were analyzed using regions of interest (3 in the liver and 2 in the pancreas) and R2* values were correlated. 59/81 patients had a liver R2*≥70 1/s of which 10/59 patients had a pancreas R2*≥50 1/s. No patient presented with a liver R2*pancreas R2*≥50 1/s. All patients with pancreas R2* values≥50 1/s had liver R2* values≥70 1/s. ROC analysis resulted in a threshold of 209.4 1/s for liver R2* values to identify HFE positive patients with pancreas R2* values≥50 1/s with a median specificity of 78.87% and a median sensitivity of 90%. In patients with HHC R2* relaxometry of the pancreas should be performed when liver iron overload is present and can be omitted in cases with no sign of hepatic iron. Copyright © 2017 Elsevier B.V. All rights reserved.

  3. Potential pre-cataractous markers induced by low-dose radiation effects in cultured human lens cells

    Science.gov (United States)

    Blakely, E.; McNamara, M.; Bjornstad, K.; Chang, P.

    The human lens is one of the most radiosensitive organs of the body. Cataract, the opacification of the lens, is a late-appearing response to radiation damage. Recent evidence indicates that exposure to relatively low doses of space radiation are associated with an increased incidence and early appearance of human cataracts (Cucinotta et al., Radiat. Res. 156:460-466, 2001). Basic research in this area is needed to integrate the early responses of various late-responding tissues into our understanding and estimation of radiation risk for space travel. In addition, these studies may contribute to the development of countermeasures for the early lenticular changes, in order to prevent the late sequelae. Radiation damage to the lens is not life threatening but, if severe, can affect vision unless surgically corrected with synthetic lens replacement. The lens, however, may be a sensitive detector of radiation effects for other cells of ectodermal origin in the body for which there are not currently clear endpoints of low-dose radiation effects. We have investigated the dose-dependent expression of several radiation-responsive endpoints using our in vitro model of differentiating human lens epithelial cells (Blakely et al., Investigative Ophthalmology &Visual Sciences, 41(12):3898-3907, 2000). We have investigated radiation effects on several gene families that include, or relate to, DNA damage, cytokines, cell-cycle regulators, cell adhesion molecules, cell cytoskeletal function and apoptotic cell death. In this paper we will summarize some of our dose-dependent data from several radiation types, and describe the model of molecular and cellular events that we believe may be associated with precataractous events in the human lens after radiation exposure. This work was supported by NASA Grant #T-965W.

  4. Human eye cataract microstructure modeling and its effect on simulated retinal imaging

    Science.gov (United States)

    Fan, Wen-Shuang; Chang, Chung-Hao; Horng, Chi-Ting; Yao, Hsin-Yu; Sun, Han-Ying; Huang, Shu-Fang; Wang, Hsiang-Chen

    2017-02-01

    We designed a crystalline microstructure during cataract lesions and calculated the aberration value of the eye by using ray trace modeling to identify the corresponding spherical aberration, coma aberration, and trefoil aberration value under different pathological-change degrees. The mutual relationship between microstructure and aberration was then discussed using these values. Calculation results showed that with increased layer number of microstructure, the influence of aberration value on spherical aberration was the greatest. In addition, the influence of a relatively compact microstructure on spherical aberration and coma aberration was small, but that on trefoil aberration was great.

  5. Rapid shift in genotype of human mitochondrial DNA in a family with Leber's hereditary optic neuropathy

    NARCIS (Netherlands)

    Bolhuis, P. A.; Bleeker-Wagemakers, E. M.; Ponne, N. J.; van Schooneveld, M. J.; Westerveld, A.; van den Bogert, C.; Tabak, H. F.

    1990-01-01

    Mitochondrial DNA isolated from white blood cells was investigated in families suffering from Leber's hereditary optic neuropathy. A recently described mutation at nucleotide position 11778 was present in 5 out of 12 families and heteroplasmic mitochondrial DNA was observed in 2 of these 5 families.

  6. Connexin mutants and cataracts

    Directory of Open Access Journals (Sweden)

    Eric C Beyer

    2013-04-01

    Full Text Available The lens is a multicellular, but avascular tissue that must stay transparent to allow normal transmission of light and focusing of it on the retina. Damage to lens cells and/or proteins can cause cataracts, opacities that disrupt these processes. The normal survival of the lens is facilitated by an extensive network of gap junctions formed predominantly of connexin46 and connexin50. Mutations of the genes that encode these connexins (GJA3 and GJA8 have been identified and linked to inheritance of cataracts in human families and mouse lines. In vitro expression studies of several of these mutants have shown that they exhibit abnormalities that may lead to disease. Many of the mutants reduce or modify intercellular communication due to channel alterations (including loss of function or altered gating or due to impaired cellular trafficking which reduces the number of gap junction channels within the plasma membrane. However, the abnormalities detected in studies of other mutants suggest that they cause cataracts through other mechanisms including gain of hemichannel function (leading to cell injury and death and formation of cytoplasmic accumulations (that may act as light scattering particles. These observations and the anticipated results of ongoing studies should elucidate the mechanisms of cataract development due to mutations of lens connexins and abnormalities of other lens proteins. They may also contribute to our understanding of the mechanisms of disease due to connexin mutations in other tissues.

  7. Aging and Health: Cataracts

    Science.gov (United States)

    ... Problems Glaucoma Macular Degeneration Join our e-newsletter! Aging & Health A to Z Cataracts Basic Facts & Information ... Are Cataracts? Cataracts are a common result of aging and occur frequently in older people. About one ...

  8. Protein tyrosine phosphatase variants in human hereditary disorders and disease susceptibilities.

    Science.gov (United States)

    Hendriks, Wiljan J A J; Pulido, Rafael

    2013-10-01

    Reversible tyrosine phosphorylation of proteins is a key regulatory mechanism to steer normal development and physiological functioning of multicellular organisms. Phosphotyrosine dephosphorylation is exerted by members of the super-family of protein tyrosine phosphatase (PTP) enzymes and many play such essential roles that a wide variety of hereditary disorders and disease susceptibilities in man are caused by PTP alleles. More than two decades of PTP research has resulted in a collection of PTP genetic variants with corresponding consequences at the molecular, cellular and physiological level. Here we present a comprehensive overview of these PTP gene variants that have been linked to disease states in man. Although the findings have direct bearing for disease diagnostics and for research on disease etiology, more work is necessary to translate this into therapies that alleviate the burden of these hereditary disorders and disease susceptibilities in man. Copyright © 2013 The Authors. Published by Elsevier B.V. All rights reserved.

  9. Amino acid pattern in human aqueous humor of patients with senile cataract and primary open-angle glaucoma.

    Science.gov (United States)

    Hannappel, E; Pankow, G; Grassl, F; Brand, K; Naumann, G O

    1985-01-01

    21 amino acids have been determined in aqueous humor obtained during microsurgical intraocular procedures in 30 patients with senile cataract and 27 patients with primary open-angle glaucoma. All individual amino acids showed higher levels in the glaucomas than in the cataracts: this is valid at 2p less than 0.05 for threonine, serine, asparagine, glutamine, methionine, tyrosine, phenylalanine, histidine, tryptophan, and arginine.

  10. Multi-crystallin complexes exist in the water-soluble high molecular weight protein fractions of aging normal and cataractous human lenses.

    Science.gov (United States)

    Srivastava, K; Chaves, J M; Srivastava, O P; Kirk, M

    2008-10-01

    The purpose of the study was to identify non-covalently held complexes that exist in the water-soluble high molecular weight (WS-HMW) protein fractions of normal human lenses of 20-year-old and 60- to 70-year-old, and in the age-matched 60- to 70-year-old cataractous lenses. The WS protein fractions were prepared from five pooled normal lenses of 20-year-old donors or five pooled lenses of 60- to 70-year-old donors or four pooled cataractous lenses (with nuclear opacity) of 60- to 70-year-old donors. Each WS protein fraction was subjected to size-exclusion chromatography using an Agarose A 5m column to recover the void volume WS-HMW protein fraction. A method known as blue-native polyacrylamide gel electrophoresis (BN-PAGE), which allows the isolation of large multi-protein complexes (MPCs) in their native state for further characterization, was used to separate such complexes from individual WS-HMW protein fractions. The protein species that existed as a complex were excised from a gel and trypsin-digested, and the amino acid sequences of the tryptic fragments analyzed by electrospray tandem mass spectrometry (ES-MS/MS). After the second-dimensional sodium dodecyl sulfate-PAGE during BN-PAGE, protein complexes containing a total of 16, 12, and 24 species with M(r) between 10 and 90 kDa were identified in the HMW protein fractions of normal lenses of 20-year-old, 60- to 70-year-old and cataractous lenses of 60- to 70-year-old donors, respectively. Based on the amino acid sequences of tryptic peptides of individual protein species in the complexes by the ES-MS/MS method, the presence of alpha-, beta-, and gamma-crystallin species along with beaded filament proteins (filensin and phakinin) was observed in the 20-year-old normal lenses. The 60- to 70-year-old normal lenses contained filensin and aldehyde dehydrogenase in addition to the above crystallins. Similarly, the age-matched cataractous lenses also contained the above crystallins and aldehyde dehydrogenase but

  11. Hereditary hyperbilirubinemias

    Directory of Open Access Journals (Sweden)

    Radlović Nedeljko

    2014-01-01

    Full Text Available Inherited disorders of bilirubin metabolism involve four autosomal recessive syndromes: Gilbert, Crigler- Najjar, Dubin-Johnson and Rotor, among which the first two are characterized by unconjugated and the second two by conjugated hyperbilirubinemia. Gilbert syndrome occurs in 2%-10% of general population, while others are rare. Except for Crigler-Najjar syndrome, hereditary hyperbilirubinemias belong to benign disorders and thus no treatment is required.

  12. Cataract - Multiple Languages

    Science.gov (United States)

    ... Supplements Videos & Tools You Are Here: Home → Multiple Languages → All Health Topics → Cataract URL of this page: https://medlineplus.gov/languages/cataract.html Other topics A-Z Expand Section ...

  13. Hereditary angioedema

    DEFF Research Database (Denmark)

    Peterson, M P; Bygum, A

    2016-01-01

    We report a 64-year-old man who suffered from recurrent visible swelling attacks since the age of 20 as well as episodes with severe upper airway edema, resulting in 4 emergency tracheotomies. Eventually after 44 years he was diagnosed with hereditary angioedema (HAE) type II. The aims of this re...... of this report is to emphasize the importance of awareness concerning HAE, which does not respond to traditional anti-allergic therapy, and remind physicians to test for functional C1-INH deficiency....

  14. Nutritional modulation of cataract

    Science.gov (United States)

    Cataract, or lens opacification, remains a major cause of blindness worldwide. Cataracts reduce vision in over eighty million people, causing blindness in eighteen million people. The number afflicted by cataract will increase dramatically as the proportion of the elderly global population increase...

  15. Point mutations in the murine fumarylacetoacetate hydrolase gene: Animalmodels for the human genetic disorder hereditary tyrosinemia type 1

    Energy Technology Data Exchange (ETDEWEB)

    Aponte, Jennifer [University of Tennessee, Knoxville (UTK); Sega, Gary A [ORNL; Hauser, Loren John [ORNL; Dhar, Madhu [University of Tennessee, Knoxville (UTK); Withrow, Catherine [ORNL; Carpenter, D A [ORNL; Rinchik, Eugene M. [University of Tennessee, Knoxville (UTK) & Oak Ridge National Laboratory (ORNL); Culiat, Cymbeline T [ORNL; Johnson, Dabney K [ORNL

    2001-01-01

    Hereditary tyrosinemia type 1 (HT1) is a severe autosomal recessive metabolic disease associated with point mutations in the human fumarylacetoacetate hydrolase (FAH) gene that disrupt tyrosine catabolism. An acute form of HT1 results in death during the first months of life because of hepatic failure, whereas a chronic form leads to gradual development of liver disease often accompanied by renal dysfunction, childhood rickets, neurological crisis, and hepatocellular carcinoma. Mice homozygous for certain chromosome 7 deletions of the albino Tyr; c locus that also include Fah die perinatally as a result of liver dysfunction and exhibit a complex syndrome characterized by structural abnormalities and alterations in gene expression in the liver and kidney. Here we report that two independent, postnatally lethal mutations induced by N-ethyl-N-nitrosourea and mapped near Tyr are alleles of Fah. The Fah6287SB allele is a missense mutation in exon 6, and Fah5961SB is a splice mutation causing loss of exon 7, a subsequent frameshift in the resulting mRNA, and a severe reduction of Fah mRNA levels. Increased levels of the diagnostic metabolite succinylacetone in the urine of the Fah6287SB and Fah5961SB mutants indicate that these mutations cause a decrease in Fah enzymatic activity. Thus, the neonatal phenotype present in both mutants is due to a deficiency in Fah caused by a point mutation, and we propose Fah5961SB and Fah6287SB as mouse models for acute and chronic forms of human HT1, respectively.

  16. Molecular Genetics of Cataract

    Science.gov (United States)

    Shiels, Alan; Hejtmancik, J. Fielding

    2017-01-01

    Lens opacities or cataract(s) represent a universally important cause of visual impairment and blindness. Typically, cataract is acquired with aging as a complex disorder involving environmental and genetic risk factors. Cataract may also be inherited with an early onset either in association with other ocular and/or systemic abnormalities or as an isolated lens phenotype. Here we briefly review recent advances in gene discovery for inherited and age-related forms of cataract that are providing new insights into lens development and aging. PMID:26310156

  17. Human extraocular muscles in mitochondrial diseases: comparing chronic progressive external ophthalmoplegia with Leber’s hereditary optic neuropathy

    Science.gov (United States)

    Carta, A; Carelli, V; D’Adda, T; Ross-Cisneros, F N; Sadun, A A

    2005-01-01

    Aims: To compare the ultrastructural aspects of human extraocular muscles in two types of mitochondrial disease: chronic progressive external ophthalmoplegia (CPEO) and Leber’s hereditary optic neuropathy (LHON). Methods: Muscle samples of the medial rectus obtained from surgery in a sporadic case of CPEO associated with deleted mitochondrial DNA, and post mortem in a case of 3460/ND1 LHON were processed for electron microscopy (EM). The medial rectus from an autoptic time to fixation matched control was used to exclude postmortem artefacts. Results: The CPEO specimen revealed focal areas of disruption and abnormalities of mitochondria in some muscle fibres, creating a “mosaic-like” pattern. In the LHON specimen a diffuse increase in both number and size of mitochondria (mean diameter 0.85 μm v 0.65 μm of control, pCPEO and LHON reveals marked differences. A “mosaic-like” pattern caused by a selective damage of muscle fibres was evident in CPEO, whereas a diffuse increase in mitochondria with preservation of myofibrils characterised the LHON case. These ultrastructural changes may relate to the different expression of the two diseases, resulting in ophthalmoplegia in CPEO and normal eye movements in LHON. PMID:15965159

  18. Hereditary hemochromatosis

    Directory of Open Access Journals (Sweden)

    Stephen A. Geller

    2015-03-01

    Full Text Available Hereditary hemochromatosis (HH is the most commonly identified autosomal recessive genetic disorder in the white population, characterized by increased intestinal iron absorption and secondary abnormal accumulation in parenchymal organs, not infrequently accompanied by functional impairment. This entity is associated with mutations of the HFE gene (located on the short arm of chromosome 6 at location 6p22.2; closely linked to the HLA-A3 locus, which encodes the HFE protein, a membrane protein thought to regulate iron absorption by affecting the interaction between transferrin receptor and transferrin.

  19. Hereditary spherocytosis

    Directory of Open Access Journals (Sweden)

    Meenakshi Kalyan

    2014-01-01

    Full Text Available Hereditary spherocytosis (HS is a familial hemolytic disorder with marked heterogeneity of clinical features, ranging from an asymptomatic condition to a fulminant hemolytic anemia. In severe cases, the disorder may present in early childhood, but in some cases it may go unnoticed until later in adult life. We present a 32-year-old male who presented with anemia, jaundice, splenomegaly, and gallstones. Seven of his family members had similar illness in the past. The Mother died of similar illness at the age of 40. The Blood film showed spherocytosis and reticulocytosis. There was increased osmotic fragility and a negative direct coomb′s test. He was given folic acid supplements and was advised for splenectomy and cholecystectomy. This case is reported due to its rarity in Indian population.

  20. Unfolded protein response activation in cataracts.

    Science.gov (United States)

    Torres-Bernal, Beatriz E; Torres-Bernal, Luis Fernando; Gutiérrez-Campos, Rafael R; Kershenobich Stalnikowitz, David D; Barba-Gallardo, Luis Fernando; Chayet, Arturo A; Ventura-Juárez, Javier

    2014-10-01

    To analyze the expression of 78 kDa glucose-regulated protein (GRP78) and activating transcription factor 6 (ATF6), 2 factors in the unfolded protein response (UPR), in age-related and diabetes-associated cataract. Universidad Autónoma de Aguascalientes, Aguascalientes, México. Experimental study. The qualitative and quantitative expression of GRP78 and ATF6 were measured in surgical samples from 11 senile cataracts, 9 diabetic-associated cataracts, and 3 normal lenses. Both proteins were detected by immunofluorescence and immunogold-conjugated antibodies. Quantitative morphometry was used to analyze the differences in GRP78 and ATF6 between samples. The Mann-Whitney test was used for statistical analysis. Scanning electron microscopy showed the characteristic organization of fibers in normal lenses with regular alignment and interdigitation between them. On the other hand, lenses from eyes with senile or diabetic cataract showed the same pattern of misalignment and disorganization of the fibers. Both proteins were detected through immunofluorescence in senile and diabetic cataracts, but not in normal lenses. Immunogold-conjugated antibodies and transmission electron microscopy showed that GRP78 and ATF6 grains were 30% higher and 35% higher, respectively, in diabetic cataracts than in senile cataracts (P<.05). These data show for the first time in humans that GRP78 and ATF6 are present in lens fibers of senile cataracts and diabetic cataracts, establishing that the UPR may be important in the process of cataractogenesis. No author has a financial or proprietary interest in any material or method mentioned. Copyright © 2014 ASCRS and ESCRS. Published by Elsevier Inc. All rights reserved.

  1. Mutations Associated with Functional Disorder of Xanthine Oxidoreductase and Hereditary Xanthinuria in Humans

    OpenAIRE

    Ichida, Kimiyoshi; Amaya, Yoshihiro; Okamoto, Ken; Nishino, Takeshi

    2012-01-01

    Xanthine oxidoreductase (XOR) catalyzes the conversion of hypoxanthine to xanthine and xanthine to uric acid with concomitant reduction of either NAD+ or O2. The enzyme is a target of drugs to treat hyperuricemia, gout and reactive oxygen-related diseases. Human diseases associated with genetically determined dysfunction of XOR are termed xanthinuria, because of the excretion of xanthine in urine. Xanthinuria is classified into two subtypes, type I and type II. Type I xanthinuria involves XOR...

  2. Mutations Associated with Functional Disorder of Xanthine Oxidoreductase and Hereditary Xanthinuria in Humans

    Directory of Open Access Journals (Sweden)

    Takeshi Nishino

    2012-11-01

    Full Text Available Xanthine oxidoreductase (XOR catalyzes the conversion of hypoxanthine to xanthine and xanthine to uric acid with concomitant reduction of either NAD+ or O2. The enzyme is a target of drugs to treat hyperuricemia, gout and reactive oxygen-related diseases. Human diseases associated with genetically determined dysfunction of XOR are termed xanthinuria, because of the excretion of xanthine in urine. Xanthinuria is classified into two subtypes, type I and type II. Type I xanthinuria involves XOR deficiency due to genetic defect of XOR, whereas type II xanthinuria involves dual deficiency of XOR and aldehyde oxidase (AO, a molybdoflavo enzyme similar to XOR due to genetic defect in the molybdenum cofactor sulfurase. Molybdenum cofactor deficiency is associated with triple deficiency of XOR, AO and sulfite oxidase, due to defective synthesis of molybdopterin, which is a precursor of molybdenum cofactor for all three enzymes. The present review focuses on mutation or chemical modification studies of mammalian XOR, as well as on XOR mutations identified in humans, aimed at understanding the reaction mechanism of XOR and the relevance of mutated XORs as models to estimate the possible side effects of clinical application of XOR inhibitors.

  3. Mutations associated with functional disorder of xanthine oxidoreductase and hereditary xanthinuria in humans.

    Science.gov (United States)

    Ichida, Kimiyoshi; Amaya, Yoshihiro; Okamoto, Ken; Nishino, Takeshi

    2012-11-21

    Xanthine oxidoreductase (XOR) catalyzes the conversion of hypoxanthine to xanthine and xanthine to uric acid with concomitant reduction of either NAD+ or O(2). The enzyme is a target of drugs to treat hyperuricemia, gout and reactive oxygen-related diseases. Human diseases associated with genetically determined dysfunction of XOR are termed xanthinuria, because of the excretion of xanthine in urine. Xanthinuria is classified into two subtypes, type I and type II. Type I xanthinuria involves XOR deficiency due to genetic defect of XOR, whereas type II xanthinuria involves dual deficiency of XOR and aldehyde oxidase (AO, a molybdoflavo enzyme similar to XOR) due to genetic defect in the molybdenum cofactor sulfurase. Molybdenum cofactor deficiency is associated with triple deficiency of XOR, AO and sulfite oxidase, due to defective synthesis of molybdopterin, which is a precursor of molybdenum cofactor for all three enzymes. The present review focuses on mutation or chemical modification studies of mammalian XOR, as well as on XOR mutations identified in humans, aimed at understanding the reaction mechanism of XOR and the relevance of mutated XORs as models to estimate the possible side effects of clinical application of XOR inhibitors.

  4. Is Pancreatic Cancer Hereditary?

    Science.gov (United States)

    ... Board Patient Education / Basics of Pancreatic Cancer Is pancreatic cancer hereditary? Cancer of the pancreas is a genetic ... found in cigarette smoke. The genetics of hereditary pancreatic cancer is a focus of research at Johns Hopkins. ...

  5. Hyperferritinaemia-cataract syndrome: Worldwide mutations and phenotype of an increasingly diagnosed genetic disorder

    OpenAIRE

    Millonig Gunda; Muckenthaler Martina U; Mueller Sebastian

    2010-01-01

    Abstract The hereditary hyperferritinaemia-cataract syndrome (HHCS) is characterised by an autosomal dominant cataract and high levels of serum ferritin without iron overload. The cataract develops due to L-ferritin deposits in the lens and its pulverulent aspect is pathognomonic. The syndrome is caused by mutations within the iron-responsive element of L-ferritin. These mutations prevent efficient binding of iron regulatory proteins 1 and 2 to the IRE in L-ferritin mRNA, resulting in an unle...

  6. Improvements in Cataract Surgery

    NARCIS (Netherlands)

    Nibourg, Lisanne Maria

    2016-01-01

    Cataract is the leading cause of blindness and visual impairment in the elderly. It involves lens opacification due to biochemical changes in the lens. Cataract surgery provides restoration of good vision by removal of the opaque lens, followed by implantation of an intraocular lens (IOL) in the

  7. cataract surgical services

    African Journals Online (AJOL)

    In most developing countries where the economy is unable to establish or sustain rehabilitative programs, the blind ... thus making the issue of cataract management a complex one. Even when manpower is available, there ... unit in terms of personnel, money and materials, one may still face problems of cataract harvest.

  8. EXTRACAPSULAR CATARACT EXTRACTION

    African Journals Online (AJOL)

    Cataract is the leading cause of blindness in leprosy patients. Sight restoration to blind leprosy patients prevents them from injuring their anaesthetic limbs. The visual outcome and complications of extracapsular cataract extraction with intraocular lens implant in 42 leprosy and 91 non-leprosy patients were compared.

  9. Dyschromatopsia following cataract surgery.

    Science.gov (United States)

    Jordan, D R; Valberg, J D

    1986-06-01

    The authors report on 19 individuals who experienced colour obscurations (dyschromatopsia) following cataract surgery. Although a transient blue discoloration (cyanopsia) might be expected following cataract surgery, an erythropsia (red vision) is more common. Symptoms generally begin after outdoor activity in bright sunlight, vary in duration and are recurrent. It is important to look for a history of drug use, migraine or cerebrovascular accidents.

  10. Training a cataract surgeon

    Directory of Open Access Journals (Sweden)

    M Babar Qureshi

    2014-07-01

    Full Text Available Training in cataract surgery is one of the key factors needed to ensure high quality cataract surgery with good visual outcomes and patient satisfaction. The training has to impart the right skills to the right person by the right trainer and in the right environment.

  11. A monograph proposing the use of canine mammary tumours as a model for the study of hereditary breast cancer susceptibility genes in humans.

    Science.gov (United States)

    Goebel, Katie; Merner, Nancy D

    2017-05-01

    Canines are excellent models for cancer studies due to their similar physiology and genomic sequence to humans, companion status and limited intra-breed heterogeneity. Due to their affliction to mammary cancers, canines can serve as powerful genetic models of hereditary breast cancers. Variants within known human breast cancer susceptibility genes only explain a fraction of familial cases. Thus, further discovery is necessary but such efforts have been thwarted by genetic heterogeneity. Reducing heterogeneity is key, and studying isolated human populations have helped in the endeavour. An alternative is to study dog pedigrees, since artificial selection has resulted in extreme homogeneity. Identifying the genetic predisposition to canine mammary tumours can translate to human discoveries - a strategy currently underutilized. To explore this potential, we reviewed published canine mammary tumour genetic studies and proposed benefits of next generation sequencing canine cohorts to facilitate moving beyond incremental advances.

  12. In-situ monitoring of the mid-IR laser ablation of cataract-suffered human lens by optical coherent tomography

    Science.gov (United States)

    Kamensky, Vladislav A.; Gelikonov, Valentin M.; Gelikonov, Grigory V.; Feldchtein, Felix I.; Sergeev, Alexander M.; Pravdenko, Kirill I.; Artemiev, Nikolai; Bityurin, Nikita M.; Skripachev, I. V.; Pushkin, A. A.; Snopatin, G. E.

    1996-12-01

    We have designed a laser complex which is a combination of a YAG:Er laser operating in the free-running mode, a radiation delivery system based on a chalcogenide fiber with uniquely high damage threshold, and a diagnostic optical coherent tomography (OCT) device for in situ monitoring of surface layers of the tissue under treatment. A flexible chalcogenide glass multimode fiber operates with a pulse energy of 150 mJ at a repetition rate of 3 Hz. Neither degradation nor laser damage were observed after transmission of 104 laser pulses through the fiber delivery instrument. This complex was employed to study the effect of the radiation of a YAG:Er laser and some other mid-IR lasers on a cataract-suffered human lens. The pulse- to-pulse kinetics of the laser tissue treatment process with a scanning depth of several millimeters and spatial resolution of 15 micrometers was investigated.

  13. Age-Related Cataract, Cataract Surgery and Subsequent Mortality: A Systematic Review and Meta-Analysis

    Science.gov (United States)

    Song, E; Sun, Hongpeng; Xu, Yong; Ma, Yana; Zhu, Hong; Pan, Chen-Wei

    2014-01-01

    Purpose Changes in lens may reflect the status of systemic health of human beings but the supporting evidences are not well summarized yet. We aimed to determine the relationship of age-related cataract, cataract surgery and long-term mortality by pooling the results of published population-based studies. Methods We searched PubMed and Embase from their inception till March, 2014 for population-based studies reporting the associations of any subtypes of age-related cataract, cataract surgery with all-cause mortality. We pooled the effect estimates (hazards ratios [HRs]) under a random effects model. Results Totally, we identified 10 unique population-based studies including 39,659 individuals at baseline reporting the associations of any subtypes of cataract with all-cause mortality from 6 countries. The presence of any cataract including cataract surgery was significantly associated with a higher risk of death (pooled HR: 1.43, 95% CI, 1.21, 2.02; Pcataract were at higher risks of mortality (pooled HR: 1.55, 95% CI, 1.17, 2.05; P = 0.002; I2 = 89.2%). In the meta-analysis of 8 study findings, cortical cataract was associated with higher risks of mortality (pooled HR: 1.26, 95% CI, 1.12, 1.42; Pcataract was associated with higher risks of mortality (pooled HR: 1.37, 95% CI, 1.04, 1.80; P = 0.03; I2 = 67.3%). The association between cataract surgery and mortality was marginally non-significant by pooling 8 study findings (pooled HR: 1.27, 95% CI, 0.97, 1.66; P = 0.08; I2 = 76.6%). Conclusions All subtypes of age-related cataract were associated with an increased mortality with nuclear cataract having the strongest association among the 3 cataract subtypes. However, cataract surgery was not significantly related to mortality. These findings indicated that changes in lens may serve as markers for ageing and systemic health in general population. PMID:25369040

  14. Modeling neurodevelopment and cortical dysfunction in SPG11-linked hereditary spastic paraplegia using human induced pluripotent stem cells

    OpenAIRE

    Mishra, Himanshu Kumar

    2016-01-01

    Hereditary spastic paraplegias (HSPs) are a heterogeneous group of inherited motor neuron diseases characterized by progressive spasticity and weakness of the lower limbs. Mutations in the Spastic Paraplegia Gene11 (SPG11), encoding spatacsin, cause the most frequent form of autosomal recessive HSP. SPG11 patients are clinically distinguishable from most other HSPs, by severe cortical atrophy and presence of a thin corpus callosum (TCC), associated with cognitive deficits. Partly due to l...

  15. Enhancements after cataract surgery.

    Science.gov (United States)

    Alio, Jorge L; Abdelghany, Ahmed A; Fernández-Buenaga, Roberto

    2015-01-01

    To provide a review of the recent literature on the indications and results of refractive and nonrefractive enhancements after cataract surgery. Laser in-situ keratomileusis proves to be the most accurate procedure to correct residual refractive error after cataract surgery. Other lens-based procedures can be used for the enhancement after cataract surgery but with lower predictability. Depending on the cause of the visual problem, these may be toric intraocular lens (IOL) rotation for excess residual cylinder and IOL exchange for unsatisfied patients with multifocal IOL or for IOL dislocation. Modern lens removal techniques and advanced preoperative diagnostic methods allow most cataract patients to be spectacle-independent for distance and sometimes also for near. Refractive considerations are integrated into modern cataract surgery and these days, patients expect an adequately predicted refractive outcome. Despite such advances in cataract surgery, unsatisfactory refractive and visual outcomes occasionally occur and in these cases, the enhancement after cataract surgery is required to achieve the best final visual outcome.

  16. Cataract Surgery in Uveitis

    Science.gov (United States)

    Agrawal, Rupesh; Murthy, Somashiela; Ganesh, Sudha K.; Phaik, Chee Soon; Sangwan, Virender; Biswas, Jyotimai

    2012-01-01

    Cataract surgery in uveitic eyes is often challenging and can result in intraoperative and postoperative complications. Most uveitic patients enjoy good vision despite potentially sight-threatening complications, including cataract development. In those patients who develop cataracts, successful surgery stems from educated patient selection, careful surgical technique, and aggressive preoperative and postoperative control of inflammation. With improved understanding of the disease processes, pre- and perioperative control of inflammation, modern surgical techniques, availability of biocompatible intraocular lens material and design, surgical experience in performing complicated cataract surgeries, and efficient management of postoperative complications have led to much better outcome. Preoperative factors include proper patient selection and counseling and preoperative control of inflammation. Meticulous and careful cataract surgery in uveitic cataract is essential in optimizing the postoperative outcome. Management of postoperative complications, especially inflammation and glaucoma, earlier rather than later, has also contributed to improved outcomes. This manuscript is review of the existing literature and highlights the management pearls in tackling complicated cataract based on medline search of literature and experience of the authors. PMID:22518338

  17. Cataract Surgery in Uveitis

    Directory of Open Access Journals (Sweden)

    Rupesh Agrawal

    2012-01-01

    Full Text Available Cataract surgery in uveitic eyes is often challenging and can result in intraoperative and postoperative complications. Most uveitic patients enjoy good vision despite potentially sight-threatening complications, including cataract development. In those patients who develop cataracts, successful surgery stems from educated patient selection, careful surgical technique, and aggressive preoperative and postoperative control of inflammation. With improved understanding of the disease processes, pre- and perioperative control of inflammation, modern surgical techniques, availability of biocompatible intraocular lens material and design, surgical experience in performing complicated cataract surgeries, and efficient management of postoperative complications have led to much better outcome. Preoperative factors include proper patient selection and counseling and preoperative control of inflammation. Meticulous and careful cataract surgery in uveitic cataract is essential in optimizing the postoperative outcome. Management of postoperative complications, especially inflammation and glaucoma, earlier rather than later, has also contributed to improved outcomes. This manuscript is review of the existing literature and highlights the management pearls in tackling complicated cataract based on medline search of literature and experience of the authors.

  18. Application of femtotechnologies and terahertz spectroscopy methods in cataract diagnostics

    Science.gov (United States)

    Sakhnov, S. N.; Leksutkina, E. V.; Smolyanskaya, O. A.; Usov, A. V.; Parakhuda, S. E.; Grachev, Ya. V.; Kozlov, S. A.

    2011-08-01

    We study the destructive action of femtosecond pulses (200 fs) on the human cataractous crystalline lens and the transmission of the cataractous lens in the terahertz spectral range of electromagnetic oscillations (0.2-1 THz) in relation to the density of the nucleus of the lens.

  19. Surgery for Congenital Cataract

    Directory of Open Access Journals (Sweden)

    David Yorston FRCS FRCOphth

    2004-01-01

    Full Text Available The management of congenital cataract is very different to the treatment of a routine age-related cataract. In adults, surgery may be delayed for years without affecting the visual outcome. In infants, if the cataract is not removed during the first year of life, the vision will never be fully regained after surgery. In adults, if the aphakia is not corrected immediately, it can be corrected later. In young children, if the aphakia is not corrected, the vision will never develop normally.

  20. Elevated Frequency of Cataracts in Birds from Chernobyl

    Science.gov (United States)

    Mousseau, Timothy Alexander; Møller, Anders Pape

    2013-01-01

    Background Radiation cataracts develop as a consequence of the effects of ionizing radiation on the development of the lens of the eye with an opaque lens reducing or eliminating the ability to see. Therefore, we would expect cataracts to be associated with reduced fitness in free-living animals. Methodology/Principal Findings We investigated the incidence of lens opacities typical of cataracts in more than 1100 free-living birds in the Chernobyl region in relation to background radiation. The incidence of cataracts increased with level of background radiation both in analyses based on a dichotomous score and in analyses of continuous scores of intensity of cataracts. The odds ratio per unit change in the regressor was 0.722 (95% CI 0.648, 0.804), which was less than odds ratios from investigations of radiation cataracts in humans. The relatively small odds ratio may be due to increased mortality in birds with cataracts. We found a stronger negative relationship between bird abundance and background radiation when the frequency of cataracts was higher, but also a direct effect of radiation on abundance, suggesting that radiation indirectly affects abundance negatively through an increase in the frequency of cataracts in bird populations, but also through direct effects of radiation on other diseases, food abundance and interactions with other species. There was no increase in incidence of cataracts with increasing age, suggesting that yearlings and older individuals were similarly affected as is typical of radiation cataract. Conclusions/Significance These findings suggest that cataracts are an under-estimated cause of morbidity in free-living birds and, by inference, other vertebrates in areas contaminated with radioactive materials. PMID:23935827

  1. Mouse models of cataract

    Indian Academy of Sciences (India)

    crystallins (gene symbol: Cryg);; some postnatal, progressive cataracts have been characterized by mutations in the -crystallin encoding genes (Cryb);; mutations in genes coding for membrane proteins like MIP or connexins lead to congenital ...

  2. Facts about Cataract

    Science.gov (United States)

    ... the cloudy lens and replacing it with an artificial lens. A cataract needs to be removed only when vision loss interferes with your everyday activities, such as driving, reading, or watching TV. You and your eye ...

  3. Viscoless microincision cataract surgery

    Directory of Open Access Journals (Sweden)

    Guy Sallet

    2008-06-01

    Full Text Available Guy SalletDepartment of Opthamology, Aalsters Stedelijk Ziekenhuis, BelgiumAbstract: A cataract surgery technique is described in which incisions, continuous circular capsulorhexis and hydrodissection are made without the use of any viscoelastics. Two small incisions are created through which the different parts of the procedure can take place, maintaining a stable anterior chamber under continuous irrigation. Subsequent bimanual phacoemulsification can be done through these microincisions. At the end of the procedure, an intraocular lens can be inserted through the self-sealing incision under continuous irrigation. 50 consecutive cataract patients were operated on without the use of viscoelastics and then compared with a group of 50 patients who had been helped with viscoelastics. No difference in outcome, endothelial cell count or pachymetry was noted between the two groups. No intraoperative complication was encountered. Viscoless cataract surgery was a safe procedure with potential advantages.Keywords: ophthalmic visco-surgical device, viscoless cataract surgery, microincision

  4. [Hereditary ovarian cancer].

    Science.gov (United States)

    Zikán, M; Foretová, L; Cibula, D; Kotlas, J; Pohlreich, P

    2006-05-01

    This article reviews the topic of hereditary ovarian cancer, describes persons at risk of hereditary disposition to cancer and gives instructions for genetic counselling and molecular analysis, including contacts to specialized centres in the Czech Republic. Review. Institute of Biochemistry and Experimental Oncology, Charles University in Prague. Hereditary ovarian cancer occurs in three autosomal dominant syndromes: appropriate hereditary ovarian cancer (HOC), hereditary breast and ovarian cancer (HBOC) and hereditary non-poliposis colorectal cancer (HNPCC). Physician in practice or specialist at the clinic should focus interest on patients form families with frequent occurrence of breast and/or ovarian cancer, patients with early onset disease or tumour duplicity (breast and ovarian cancer). Hereditary disposition to ovarian (and breast) cancer could be assessed by molecular genetic analysis of two main susceptibility genes BRCA1 and BRCA2, or other genes in families with diverse tumours. Molecular genetic analysis should be in any cases indicated by experienced clinical genetic. In the Czech Republic, the consensus of genetic and clinical care of risk patients was published and specialized centres for families with hereditary predisposition were settled in Prague and Brno. Persons with hereditary susceptibility to cancer constitute noted group where painstaking dispensarisation and preventive care may prevent malignancy or detect it in the early stage.

  5. Genetics Home Reference: hereditary angioedema

    Science.gov (United States)

    ... named? Additional Information & Resources MedlinePlus (2 links) Encyclopedia: Hereditary angioedema Health Topic: Vascular Diseases Genetic and Rare Diseases Information Center (1 link) Hereditary ...

  6. Cataract and Cataract Surgery: Nationwide Prevalence and Clinical Determinants.

    Science.gov (United States)

    Park, Sang Jun; Lee, Ju Hyun; Kang, Se Woong; Hyon, Joon Young; Park, Kyu Hyung

    2016-06-01

    This study aimed to investigate the prevalence and clinical determinants of cataract and cataract surgery in Korean population. The 2008-2012 Korean National Health and Nutrition Examination Survey was analyzed, which included 20,419 participants aged ≥ 40 years. The survey is a multistage, probability-cluster survey, which can produce nationally representative estimates. Prevalence of cataract and cataract surgery was estimated. Clinical determinants for those were investigated using logistic regression analyses (LRAs). The prevalence of cataract was 42.28% (95% confidence interval [CI], 40.67-43.89); 40.82% (95% CI, 38.97-42.66) for men and 43.62% (95% CI, 41.91-45.33) for women (P = 0.606). The prevalence of cataract surgery was 7.75% (95% CI, 7.30-8.20); 6.38% (95% CI, 5.80-6.96) for men and 9.01% (95% CI, 8.41-9.61) for women (P Cataract was associated with older age (P Cataract surgery was consistently associated with older age, occupation, DM, asthma, and anemia in two LRAs, which compared participants with cataract surgery to those without cataract surgery and those having a cataract but without any cataract surgery, respectively. Hypertension, arthritis, and dyslipidemia were associated with cataract surgery at least in one of these LRAs. These results suggest that there are 9.4 million individuals with cataract and 1.7 million individuals with cataract surgery in Korea. Further studies are warranted to reveal the causality and its possible mechanism of developing/exacerbating cataract in novel determinants (i.e., anemia, asthma, and arthritic conditions) as well as well-known determinants.

  7. Two novel mutations in the glycine-rich region of human PAX6 gene: Implications for an association of cataracts and anosmia with aniridia

    Energy Technology Data Exchange (ETDEWEB)

    Martha, A.; Ferrel, R.E.; Hittner, H.M.; Saunders, G.F. [Univ. of Texas M.D. Anderson Cancer Center, Houston, TX (United States)

    1994-09-01

    Aniridia (iris hyplasia) is a autosomal dominant congenital disorder of the eye. Mutations in the human aniridia (PAX6) gene have now been identified in many patients from various ethnic groups. In the present study we describe new mutations in this gene. Out of four mutations found, three were novel mutations; the fourth one is identical to the previously reported mutations (C{yields}T transition at nt 240). The three novel mutations analyzed were in the glycine-rich region (two) and in the proline/serine/threonine-rich (PST) region (one). Previously no mutations were reported for the glycine-rich region in humans. One of the mutations found in this region is associated with cataracts in an aniridia family. The other splice mutation found in the PST domain is associated with anosmia (lack of sensation to smell) in a sporadic aniridia case. Two of the mutations presented here, one in the glycine-rich region and the other in the PST domain, were not detected by SSCR. These mutations could be detected by using MDE gel and heteroduplex information. All mutations found in the present study are similar in that 32 of 33 PAX6 mutations result in protein truncation and haploinsufficiency.

  8. Cataract surgery output and cost of hospitalization for cataract ...

    African Journals Online (AJOL)

    Cataract is the most common cause of curable blindness in. Nigeria”. Nigeria has ... contribution of teaching hospitals to the prevention of blind- ness. Several .... All the adult patients before the age of 40 had extracapsular cataract extraction; those above had intracapsular cataract extraction. The children all had congenital ...

  9. A Progressive Autosomal Recessive Cataract Locus Maps to Chromosome 9q13-q22

    Science.gov (United States)

    Héon, Elise; Paterson, Andrew D.; Fraser, Michael; Billingsley, Gail; Priston, Megan; Balmer, Aubin; Schorderet, Daniel F.; Verner, Andrei; Hudson, Thomas J.; Munier, Francis L.

    2001-01-01

    Cataracts are the leading cause of blindness in most countries. Although most hereditary cases appear to follow an autosomal dominant pattern of inheritance, autosomal recessive inheritance has been clearly documented and is probably underrecognized. We studied a large family—from a relatively isolated geographic region—whose members were affected by autosomal recessive adult-onset pulverulent cataracts. We mapped the disease locus to a 14-cM interval at a novel disease locus, 9q13-q22 (between markers D9S1123 and D9S257), with a LOD score of 4.7. The study of this progressive and age-related cataract phenotype may provide insight into the cause of the more common sporadic form of age-related cataracts. PMID:11179024

  10. [Cataract surgery in children].

    Science.gov (United States)

    Pavlović, S

    2000-01-01

    Cataract extraction in children has improved and became more popular over the past few decades but, due to particular features of children's eyes, still remains controversial--especially regarding the intraocular lens implantation. In contrast to adults, indications for cataract surgery in children are much more difficult to determine. Since subjective visual acuity cannot be obtained, greater reliance must be placed on the morphology and location of the lens opacity, and the behavior of the child. Forced preferential looking and visual evoked potentials can be helpful, but they should not be the only criteria. In management of pediatric cataract, correction of postoperative aphakia is still an incompletely resolved problem. Conventionally, optical correction is achieved by spectacles or contact lenses. The power of both spectacles and contact lenses can be readily adjusted to compensate for ocular growth. The success of both depends significantly on parental compliance and the child's acceptance. Hutchinson reported that 44% children with aphakia stopped wearing glasses or contact lenses 2 months after surgery. Contact lens wearing can also result in a number of corneal complications, including infectious keratitis, corneal vascularization and hypoxic corneal ulceration. IOL implantation is theoretically superior to glasses and contact lenses since it provides almost immediate optical correction which is much more reliable because it does not depend on parental or child's compliance. Still, there are many controversies about IOL implantation in infants and young children like IOL-size, material, IOL power calculation, prevention and management of secondary cataract, as well as long term safety of IOLs in children's eyes. Although short-term anatomic results after cataract extraction and primary IOL implantation in children are excellent and stable, long-term follow-up is necessary to answer questions about the long-term safety of implants in children's eyes. A

  11. ASSESSMENT OF PLASMA ZINC STATUS OF SENILE CATARACT ...

    African Journals Online (AJOL)

    CATARACT ELDERLY PATIENTS IN MID-WESTERN NIGERIA- A CASE STUDYOF ... Zinc is a trace element essential in human nutrition, ubiquitous in cells, significant in membrane function and cellular metabolism like protection of lens from ...

  12. A novel locus on canine chromosome 13 is associated with cataract in the Australian Shepherd breed of domestic dog.

    Science.gov (United States)

    Ricketts, Sally L; Pettitt, Louise; McLaughlin, Bryan; Jenkins, Christopher A; Mellersh, Cathryn S

    2015-06-01

    Hereditary cataract is a common ocular disorder in the purebred dog population and is a leading cause of visual impairment and blindness in dogs. Despite this, little is known to date about the genetics underlying this condition. We have used a genome-wide association study and targeted resequencing approach to identify a novel locus for cataracts in the Australian Shepherd breed of dog, using dogs that are clear of an HSF4 mutation, previously identified as the major susceptibility locus in this breed. Cataract cases were defined as dogs with bilateral posterior cataracts, or bilateral nuclear cataracts. Controls were at least 8 years of age with no evidence of cataracts or other ocular abnormality. Using 15 bilateral posterior polar cataract cases and 68 controls, we identified a genome-wide statistical association for cataracts in the Australian Shepherd on canine chromosome 13 at 46.4 Mb (P value: 1.5 × 10(-7)). We sequenced the 14.16 Mb associated region in ten Australian Shepherds to search for possible causal variants underlying the association signal and conducted additional fine-mapping of the region by genotyping 28 intronic variants that segregated correctly in our ten sequenced dogs. From this analysis, the strongest associated variants were located in intron 5 of the SCFD2 gene. Further study will require analysis of additional cases and controls and ocular tissue from dogs affected with bilateral cataracts that are free of the HSF4 mutation.

  13. Hyperferritinemia without iron overload in patients with bilateral cataracts: a case series

    Directory of Open Access Journals (Sweden)

    Mumford Andrew

    2011-09-01

    Full Text Available Abstract Introduction Hepatologists and internists often encounter patients with unexplained high serum ferritin concentration. After exclusion of hereditary hemochromatosis and hemosiderosis, rare disorders like hereditary hyperferritinemia cataract syndrome should be considered in the differential diagnosis. This autosomal dominant syndrome, that typically presents with juvenile bilateral cataracts, was first described in 1995 and has an increasing number of recognized molecular defects within a regulatory region of the L-ferritin gene (FTL. Case presentation Two patients (32 and 49-year-old Caucasian men from our ambulatory clinic were suspected as having this syndrome and a genetic analysis was performed. In both patients, sequencing of the FTL 5' region showed previously described mutations within the iron responsive element (FTL c.33 C > A and FTL c.32G > C. Conclusion Hereditary hyperferritinemia cataract syndrome should be considered in all patients with unexplained hyperferritinemia without signs of iron overload, particularly those with juvenile bilateral cataracts. Liver biopsy and phlebotomy should be avoided in this disorder.

  14. Traumatic cataract in patient with anterior megalophthalmos: Case report.

    Science.gov (United States)

    Chlasta-Twardzik, Edyta; Nowińska, Anna; Wąs, Paweł; Jakubowska, Agnieszka; Wylęgała, Edward

    2017-07-01

    Megalophthalmos anterior is a rare, bilateral, nonprogressive, hereditary, congenital disorder, characterized by the enlargement of all anterior segment structures of the eye, with megalocornea, iris atrophy, and zonular abnormalities commonly found. Usually almost asymptomatic in young patients, with most complaints concerning blurred vision due to the common corneal astigmatism, it might in time lead to several complications including premature cataract formation and pigmentary glaucoma. This review presents the case of a 47-year old patient referred to our clinic for traumatic cataract surgery, with striking bilateral megalocornea, somehow overlooked during previous ophthalmic examinations in his local outpatient clinic. We noticed markedly enlarged corneas and deepened anterior chambers of his both eyes, accompanied by intumescent, white cataract of the right eye, and incipient cortical cataract of the left eye. Best corrected visual acuity (BCVA) was counting fingers in the right eye and 20/25 in the left eye. Additional examination revealed multiple abnormalities of the anterior segment, leading to the diagnosis of anterior megalophthalmos. It is astounding the patient remained undiagnosed during previous examinations, with his megalocornea and remarkably deep anterior chamber so apparent. We performed standard phacoemulsification procedure, with 3 piece posterior chamber intraocular lens (PCIOL) implantation into the lens capsule. The surgery was uneventful, with postoperative BCVA of 20/20 in the right eye, and no dislocation of the lens in 9-month observation period. Complicated cataract in patients with anterior megalophthalmos can be successfully treated with standard phacoemulsification procedure followed by the bag PCIOL implantation.Care needs to be taken during cataract surgery in these patients, as zonular abnormalities and lens enlargement are common, resulting in increased rate of intra- and postoperative complications. As patients with anterior

  15. 3-D Cataract Imaging System

    Science.gov (United States)

    Otten, L. J.; Soliz, P.; McMakin, I.; Greenaway, A.; Blanchard, P.; Ogawa, G.

    This paper describes a new adaptive optics instrument and associated diagnostic system for volumetric, in vivo imaging of the human lens and visual acuity characterization. The system is designed to allow one to capture simultaneous, in-focus images of the human lens at multiple "image planes." Based on the adaptation of a deformable grating originally developed for atmospheric turbulence measurements, the instrument will demonstrate an improvement over current techniques for imaging cortical, nuclear and posterior subcapsular cataracts. The system will characterize the human lens optically and will automatically produce an estimate of visual function as affected by the measured abnormalities in the lens. The process that Kestrel and DERA Malvern will use to demonstrate the key techniques for simultaneously acquiring in vivo lens imagery at multiple focus planes employs a surrogate lens. Eventually the camera could be considered as a replacement for most standard slit lamp instruments allowing them to be converted into a 3-D imaging system.

  16. [Hereditary optic neuropathies].

    Science.gov (United States)

    Milea, D; Verny, C

    2012-10-01

    Hereditary optic neuropathies are a group of heterogeneous conditions affecting both optic nerves, with an autosomal dominant, autosomal recessive, X-related or mitochondrial transmission. The two most common non-syndromic hereditary optic neuropathies (Leber's hereditary optic neuropathy and autosomal dominant optic atrophy) are very different in their clinical presentation and their genetic transmission, leading however to a common, non-specific optic nerve atrophy. Beyond the optic atrophy-related visual loss, which is the clinical hallmark of this group of diseases, other associated neurological signs are increasingly recognized. Copyright © 2012. Published by Elsevier Masson SAS.

  17. Pattern of presentation of pediatric cataract in tribes of hills of Western India: A hospital-based retrospective study at Global Hospital Institute of Ophthalmology, Mount Abu

    Directory of Open Access Journals (Sweden)

    Amit Mohan

    2017-01-01

    Full Text Available Context: Congenital cataract is a priority of Vision 2020: the right to sight, the global initiative to reduce the world's burden of avoidable blindness because it is an important treatable cause of visual physically challenged in childhood worldwide. Prevention and treatment require information about etiology that is currently unavailable for many regions of the world. From an epidemiologic study, the causative factors of pediatric cataract can be identified. Aims: This study aims to determine causes of childhood cataracts and to identify the preventable factors in tribes of hilly areas of Western India. Settings and Design: The present study is a hospital-based retrospective study. Materials and Methods: A retrospective study was conducted after reviewing the details of 165 patients of pediatric cataract aged between 3 months and 15 years who underwent cataract surgery in our institute from April 2011 to March 2014. A team of ophthalmologists and pediatricians attached to the center examined all the patients preoperatively. The type of cataract was determined using slit lamp biomicroscopy or operating microscope. Results: Nontraumatic cataract was 72.1% and traumatic cataract was 27.9%. Nontraumatic cataract includes hereditary (10.1%, rubella (5.0%, secondary (16.8%, and idiopathic (68.1%. In nontraumatic cataract group, 66 patients had bilateral cataract and 53 had unilateral cataract. Traumatic cataract was the most common in the age group of 6–10 years and most common cause of trauma is thorn (23.9% followed by stone (21.7%, crackers (17.4%, wood stick (13%, finger (4.3%, chemical injury (4.3%, needle (4.3%, wire (2.2%, and others (8.7%. Conclusions: About 5% of nontraumatic bilateral cataracts in hills of Western India are due to rubella. An awareness program for precaution during pregnancy and immunization against rubella is needed to prevent it. School children must be educated for factors causing traumatic cataract and need

  18. PEDIATRIC CATARACT SURGERY

    Directory of Open Access Journals (Sweden)

    Vladimir Pfeifer

    2002-12-01

    Full Text Available Background. The paper consists of two parts; the first part concentrates on the theoretical foundation of the PCCC surgical technique, while the second part brings forward the results of the study, in which some techniques of cataract surgery were compared.Methods. The study comprised 22 eyes of 19 children who had their primary cataract surgery performed between 1998 and June 2000. All the patients were operated by one surgeon. Eyes with systemic diseases that cause ectopic lenses were excluded from the study.In the example of 2 eyes, lensectomy without IOL implantation was performed, whereas in others, PC IOLs were implanted. (15 Baush and Lomb Hydroview, length 12.50 mm and 2 Alcon AcrySof, length 13 mm.In 6 eyes, the posterior capsule was left intact (all of the patients were older than 5 years, in 14 eyes PCCC was performed; of these, 13 with and 1 without anterior vitrectomy.Results. Secondary cataract developed in both aphakic eyes, in 3 eyes with intact posterior capsules, and in 2 eyes that had PCCC. Posterior capsule opacification still remains a major problem in pediatric cataract surgery and IOL implantation, but no other postoperative complications were present. The best visual outcome was achieved in posttraumatic cases, and the worst in children who had associated ocular anomalies.Conclusions. After early diagnosis and surgery postoperative treatment is also very important. Correction of residual refractive error and orthoptic-pleoptic treatment is necessary for successful visual rehabilitation.

  19. Mouse models of cataract

    Indian Academy of Sciences (India)

    2009-12-31

    Dec 31, 2009 ... Much of our knowledge about the function of genes in cataracts has been derived from the molecular analysis of spontaneous or induced mutations in the mouse. Mutations affecting the mouse lens can be identified easily by visual inspection, and a remarkable number of mutant lines have been ...

  20. Cataract surgery - slideshow

    Science.gov (United States)

    ... GO GO About MedlinePlus Site Map FAQs Customer Support Health Topics Drugs & Supplements Videos & Tools Español You Are Here: Home → Medical Encyclopedia → Cataract surgery - series—Normal anatomy URL of this page: //medlineplus.gov/ency/presentations/ ...

  1. Learning about Hereditary Hemochromatosis

    Science.gov (United States)

    Skip to main content Learning About Hereditary Hemochromatosis Enter Search Term(s): Español Research Funding An Overview Bioinformatics Current Grants Education and Training Funding Extramural Research ...

  2. Hereditary fructose intolerance

    Science.gov (United States)

    Fructosemia; Fructose intolerance; Fructose aldolase B-deficiency; Fructose-1, 6-bisphosphate aldolase deficiency ... substances build up in the liver. Hereditary fructose intolerance is inherited, which means it can be passed ...

  3. Histopathology of Subcapsular Cataract in a Patient with Atopic Dermatitis.

    Science.gov (United States)

    Shu, Daisy Yao; Ong, Keith; Lovicu, Frank J

    2017-02-01

    To report the histopathological features of anterior subcapsular cataract associated with atopic dermatitis. A 29-year-old man with atopic dermatitis presented with bilateral anterior subcapsular cataract. After routine cataract surgery, the anterior subcapsular cataractous tissue was obtained as an anterior capsulorhexis flap and prepared as a wholemount for histological analysis. The wholemount consisted of a well-demarcated central grayish-white plaque surrounded by transparent capsule, corroborating the slit-lamp biomicroscopic appearance. Higher magnification of the plaque revealed a fibrous and amorphous mass, most likely extracellular matrix owing to the presence of irregularly arranged bundled strands of fibrils, typical of collagen. Lens epithelial cells at the plaque were densely packed and myofibroblast-like and immunoreactive for alpha-smooth muscle actin. In contrast, lens epithelial cells more distant from the plaque retained their regular cuboidal arrangement and regular spacing, and were not labeled for alpha-smooth muscle actin, similar to lens epithelial cells obtained from a non-cataractous case. The presence of alpha-smooth muscle actin-reactive elongated cells at the plaque suggests that the cuboidal lens epithelial cells making up the anterior subcapsular cataract have transdifferentiated into spindle-shaped myofibroblastic cells that produce and deposit aberrant extracellular matrix. This transdifferentiation process, more commonly known as an epithelial-mesenchymal transition, contributes to a fibrotic response leading to the development of human anterior subcapsular cataract.

  4. [Hereditary kidney diseases in children].

    Science.gov (United States)

    Zhang, Yan-qin; Ding, Jie; Wang, Fang; Zhang, Hong-wen

    2013-04-18

    About 10 to 15 percent of kidney diseases are inherited or related to genetic factors. While, hereditary kidney diseases have no specific clinical manifestations and react poorly to the therapy, as a result, about 30 percent of hospitalized children with chronic renal failure is due to hereditary kidney diseases in our country. Hereditary kidney diseases are related to many genes. Molecular genetic analysis plays an important role in the diagnosis and prenatal diagnosis of hereditary kidney diseases. Our group have made a series of research in hereditary kidney diseases for nearly 30 years. Here we review the research work and the main results in hereditary kidney diseases of our group.

  5. Genetics Home Reference: hyperferritinemia-cataract syndrome

    Science.gov (United States)

    ... Twitter Home Health Conditions Hyperferritinemia-cataract syndrome Hyperferritinemia-cataract syndrome Printable PDF Open All Close All Enable ... to view the expand/collapse boxes. Description Hyperferritinemia-cataract syndrome is a disorder characterized by an excess ...

  6. Loss of spastin function results in disease-specific axonal defects in human pluripotent stem cell-based models of hereditary spastic paraplegia.

    Science.gov (United States)

    Denton, Kyle R; Lei, Ling; Grenier, Jeremy; Rodionov, Vladimir; Blackstone, Craig; Li, Xue-Jun

    2014-02-01

    Human neuronal models of hereditary spastic paraplegias (HSP) that recapitulate disease-specific axonal pathology hold the key to understanding why certain axons degenerate in patients and to developing therapies. SPG4, the most common form of HSP, is caused by autosomal dominant mutations in the SPAST gene, which encodes the microtubule-severing ATPase spastin. Here, we have generated a human neuronal model of SPG4 by establishing induced pluripotent stem cells (iPSCs) from an SPG4 patient and differentiating these cells into telencephalic glutamatergic neurons. The SPG4 neurons displayed a significant increase in axonal swellings, which stained strongly for mitochondria and tau, indicating the accumulation of axonal transport cargoes. In addition, mitochondrial transport was decreased in SPG4 neurons, revealing that these patient iPSC-derived neurons recapitulate disease-specific axonal phenotypes. Interestingly, spastin protein levels were significantly decreased in SPG4 neurons, supporting a haploinsufficiency mechanism. Furthermore, cortical neurons derived from spastin-knockdown human embryonic stem cells (hESCs) exhibited similar axonal swellings, confirming that the axonal defects can be caused by loss of spastin function. These spastin-knockdown hESCs serve as an additional model for studying HSP. Finally, levels of stabilized acetylated-tubulin were significantly increased in SPG4 neurons. Vinblastine, a microtubule-destabilizing drug, rescued this axonal swelling phenotype in neurons derived from both SPG4 iPSCs and spastin-knockdown hESCs. Thus, this study demonstrates the successful establishment of human pluripotent stem cell-based neuronal models of SPG4, which will be valuable for dissecting the pathogenic cellular mechanisms and screening compounds to rescue the axonal degeneration in HSP. © AlphaMed Press.

  7. Paediatric cataract: challenges and complications

    Directory of Open Access Journals (Sweden)

    Dr P Vijayalakshmi

    2016-10-01

    Full Text Available Amblyopia should always be anticipated in children with unilateral cataract, asymmetrical bilateral cataracts (or where there is a delay between the first and second eye operation, or a delay of more than a year between diagnosis/ detection and surgery, cataracts with anisometropia or traumatic cataracts with corneal scars. When amblyopia is detected, occlusion therapy (eye patching must be instituted at the earliest opportunity. The patching regimen is the same with any strabismic amblyopia and sometimes needs to be aggressive at the start. It is crucial to explain the need for patching to the parents, since compliance is the greatest obstacle to the success of amblyopia treatment.

  8. Associations between nutrition and cataract.

    Science.gov (United States)

    Taylor, A

    1989-08-01

    Blindness due to opacification of the lens, or cataract, afflicts 50 million persons worldwide. In the United States over 541,000 cataract extractions are done annually at a cost of over $3.8 billion. Conservative estimates indicate that the prevalences of cataracts in Americans aged 65-75 and 75-85 years are 18% and 46%, respectively. Cataracts are even more prevalent in some other populations. It is estimated that the need for cataract extractions would be diminished by half if onset of cataract could be delayed by only ten years. Hypotheses regarding the etiology of cataract include oxidative perturbations of protein metabolism, diverse pathologic conditions, and perhaps glycation of lens proteins. Epidemiologic data indicate that elevated plasma levels of specific nutrients (i.e., carotenoids, ascorbate, tocopherol, and taurine) are associated with diminished incidence of certain types of cataract. Biochemical evidence suggests that each of these compounds can delay photooxidative damage to lens proteins. Roles in lens metabolism for selenium and tryptophan have been suggested. Elucidation of mechanisms by which caloric restriction delays cataract development is a promising area of current research.

  9. Hereditary cancer syndromes.

    Science.gov (United States)

    Rahner, Nils; Steinke, Verena

    2008-10-01

    Persons carrying mutations for hereditary cancer syndromes are at high risk for the development of tumors at an early age, as well as the synchronous or metachronous development of multiple tumors of the corresponding tumor spectrum. The genetic causes of many hereditary cancer syndromes have already been identified. About 5% of all cancers are part of a hereditary cancer syndrome. Selective literature review, including evidence-based guidelines and recommendations. Clinical criteria are currently available according to which many hereditary cancer syndromes can be diagnosed or suspected and which point the way to further molecular genetic analysis. A physician can easily determine whether these criteria are met by directed questioning about the patient's personal and family medical history. The identification of the causative germ line mutation in the family allows confirmation of the diagnosis in the affected individual and opens up the option of predictive testing in healthy relatives. Mutation carriers for hereditary cancer syndromes need long-term medical surveillance in a specialized center. It is important that these persons should be identified in the primary care setting and then referred for genetic counseling if molecular genetic testing is to be performed in a targeted, rational manner.

  10. A Robust Automated Cataract Detection Algorithm Using Diagnostic Opinion Based Parameter Thresholding for Telemedicine Application

    OpenAIRE

    Shashwat Pathak; Basant Kumar

    2016-01-01

    This paper proposes and evaluates an algorithm to automatically detect the cataracts from color images in adult human subjects. Currently, methods available for cataract detection are based on the use of either fundus camera or Digital Single-Lens Reflex (DSLR) camera; both are very expensive. The main motive behind this work is to develop an inexpensive, robust and convenient algorithm which in conjugation with suitable devices will be able to diagnose the presence of cataract from the true ...

  11. Hereditary spectrin deficiency in Golden Retriever dogs

    NARCIS (Netherlands)

    Slappendel, Robbert J.; van Zwieten, Rob; van Leeuwen, Martin; Schneijdenberg, Chris T. W. M.

    2005-01-01

    Spectrin deficiency with increased erythrocyte osmotic fragility (OF) is a hallmark of hereditary spherocytosis, which is the most common congenital hemolytic anemia in humans of northern European ancestry. A radioimmunoassay revealed that erythrocyte spectrin concentration was 50-65% of normal in 5

  12. Cataract Backlog and Output of Cataract Surgery in Plateau State ...

    African Journals Online (AJOL)

    Methodology: All cataract surgical centres in the state were visited. The operation register for the period of one year (1st April 2002 to 31st March 2003) were reviewed and the number of eyes operated for age-related cataract were determined. The number and position of all surgeons were compiled. All surgical eye camps ...

  13. Hereditary gastric cancer.

    Science.gov (United States)

    Oliveira, Carla; Seruca, Raquel; Carneiro, Fátima

    2009-01-01

    Gastric cancer is a heterogeneous and highly prevalent disease, being the fourth most common cancer and the second leading cause of cancer associated death worldwide. Most cases are sporadic and familial clustering is observed in about 10% of the cases. Hereditary gastric cancer accounts for a very low percentage of cases (1-3%) and a single hereditary syndrome - Hereditary Diffuse Gastric Cancer (HDGC) - has been characterised. Among families that fulfil the clinical criteria for HDGC, about 40% carry CDH1 germline mutations, the genetic cause of the others being unknown. The management options for CDH1 asymptomatic germline carriers are intensive endoscopic surveillance and prophylactic gastrectomy. In this chapter we review the pathophysiology and clinicopathological features of HDGC and discuss issues related with genetic testing and management of family members.

  14. Evaluation of antioxidants and argpyrimidine in normal and cataractous lenses in north Indian population

    Directory of Open Access Journals (Sweden)

    Bharani K Mynampati

    2017-07-01

    Full Text Available AIM: To assess the level of glutathione, thioltransferase, and argpyrimidine in nuclear and cortical cataractous lenses as well as in the clear lenses in the north Indian population. METHODS: Human cataractous lenses were collected from the patients who underwent extracapsular cataract extraction surgery; clear lenses were collected from the freshly donated eye bank eyes. Antioxidant molecules such as glutathione and thioltransferase enzyme activity were measured; simultaneously in these lenses a blue fluorophore argpyrimidine, an advanced glycation end (AGE product level was assessed using high performance liquid chromatography (HPLC. RESULTS: The protein concentration was found to be present at higher levels in the control lenses compared to cataract lenses. A significant decrease in the glutathione level was observed in the nuclear cataractous lenses compared to cortical cataractous (P=0.004 and clear lenses (P≤0.005, but no significant change in the level of antioxidant enzyme thioltransferase was observed. Further, argpyrimidine a blue fluorophore (AGE was found to be significantly higher in the nuclear cataract (P=0.013 compared to cortical cataract lenses. CONCLUSION: Antioxidants such as glutathione significantly decrease in age-related nuclear and cortical cataract and an AGE, argpyrimidine are present at significantly higher levels in nuclear cataract.

  15. [Hereditary systemic autoinflammatory diseases].

    Science.gov (United States)

    Aróstegui, Juan I

    2011-01-01

    Systemic autoinflammatory diseases encompass different rare clinical entities characterized by recurrent acute inflammatory episodes secondary to a dysregulated inflammatory process. Since their first clinical descriptions, the Mendelian hereditary nature of some of them became evident, with their genetic and molecular basis being recently elucidated. There are disease-causing mutations in genes encoding for different proteins involved in the innate immune response and inflammation. Herein, we will introduce the reader to an updated review of the main clinical, physiopathological and therapeutic features of the different hereditary systemic autoinflammatory diseases. Copyright © 2010 Elsevier España, S.L. All rights reserved.

  16. Visual Outcome of Cataract Surgery

    African Journals Online (AJOL)

    Purpose:To assess the visual outcome of cataract surgery in a tertiary hospital in Nigeria. Methods: Three hundred and seventy eyes (370) that had cataract surgery in the ophthalmology department of. University of Benin Teaching Hospital (UBTH) from. July 2007 to December 2008 were included in the study. Case records ...

  17. Cataract formation after penetrating keratoplasty.

    Science.gov (United States)

    Rathi, V M; Krishnamachary, M; Gupta, S

    1997-05-01

    To assess the incidence and risk factors for developing cataract after penetrating keratoplasty (PKP). L.V. Prasad Eye Institute, Hyderabad, India. This retrospective analysis of 251 phakic patients who had PKP between 1987 and 1994 assessed the incidence of and risk factors for cataract formation. Patients were assigned to one of two groups: Group 1 (n = 96), patients with keratoconus and corneal dystrophy; Group 2 (n = 88), patients with corneal scar and adherent leucoma. Preoperative, intraoperative, and postoperative lens details were noted. Data on intraoperative iris procedures (excess manipulation, pupilloplasty, synechiolysis, peripheral iridectomy) and postoperative topical steroid usage were assessed. Sixty-seven patients were excluded because of incomplete lens status data. Of the remaining 184 patients, 45 (24.45%) developed cataract. Most cataracts (n = 31) developed within the first year of surgery. The incidence of cataract was significantly higher in Group 2 (n = 29) than in Group 1 (n = 16) (P = .0102). There was no significant between-group difference in mean steroid dose (P = .7064); however, the mean dose was significantly higher in eyes with cataracts (563 +/- 234 units) than in those without (479 +/- 127 units) (P = .0352). In Group 2, 9 of 20 patients who had synechiolysis, 1 of 3 who had pupilloplasty, and 2 of 5 who had peripheral iridectomy developed cataract. In Group 1, no patient had iris-related procedures. Excessive steroid use and intraoperative iris manipulations are major risk factors for cataract formation after PKP.

  18. Hyperferritinaemia-cataract syndrome: Worldwide mutations and phenotype of an increasingly diagnosed genetic disorder

    Directory of Open Access Journals (Sweden)

    Millonig Gunda

    2010-04-01

    Full Text Available Abstract The hereditary hyperferritinaemia-cataract syndrome (HHCS is characterised by an autosomal dominant cataract and high levels of serum ferritin without iron overload. The cataract develops due to L-ferritin deposits in the lens and its pulverulent aspect is pathognomonic. The syndrome is caused by mutations within the iron-responsive element of L-ferritin. These mutations prevent efficient binding of iron regulatory proteins 1 and 2 to the IRE in L-ferritin mRNA, resulting in an unleashed ferritin translation. This paper reviews all 31 mutations (27 single nucleotide transitions and four deletions that have been described since 1995. Laboratory test showing hyperferritinaemia, normal serum iron and normal transferrin saturation are indicative for HHCS after exclusion of other causes of increased ferritin levels (inflammation, malignancy, alcoholic liver disease and should prompt an ophthalmological consultation for diagnostic confirmation. Invasive diagnostics such as liver biopsy are not indicated. HHCS is an important differential diagnosis of hyperferritinaemia. Haematologists, gastroenterologists and ophthalmologists should be aware of this syndrome to spare patients from further invasive diagnosis (liver biopsy, and also from a false diagnosis of hereditary haemochromatosis followed by venesections. Patients diagnosed with HHCS should be counselled regarding the relative harmlessness of this genetic disease, with early cataract surgery as the only clinical consequence.

  19. A novel missense mutation of Mip causes semi-dominant cataracts in the Nat mouse

    OpenAIRE

    Takahashi, Gou; Hasegawa, Sayaka; Fukutomi, Yukiko; Harada, Chihiro; Furugori, Masamune; Seki, Yuta; Kikkawa, Yoshiaki; Wada, Kenta

    2017-01-01

    Major intrinsic protein of lens fiber (MIP) is one of the proteins essential for maintaining lens transparency while also contributing to dominant cataracts in humans. The Nodai cataract (Nat) mice harbor a spontaneous mutation in Mip and develop early-onset nuclear cataracts. The Nat mutation is a c.631G>A mutation (MipNat ), resulting in a glycine-to-arginine substitution (p.Gly211Arg) in the sixth transmembrane domain. The MipNat/Nat homozygotes exhibit congenital cataracts caused by the d...

  20. Managing hereditary ovarian cancer

    NARCIS (Netherlands)

    Mourits, M. J.; de Bock, G. H.

    2009-01-01

    In this review we present an overview of recent developments in the management of hereditary ovarian cancer. Until recently, intensive screening of the ovaries was recommended to mutation carriers and their first-degree female relatives. However, since screening is not effective in detecting

  1. Hereditary periodic fever syndromes

    NARCIS (Netherlands)

    McDermott, MF; Frenkel, J

    Hereditary periodic fever syndromes are defined by recurrent attacks of generalised inflammation for which no infectious or auto-immune cause can be identified. For most of these disorders, the molecular basis has recently been elucidated. This has opened the prospect of novel therapeutic

  2. Hereditary Angioedema in Childhood

    DEFF Research Database (Denmark)

    Kjaer, Line; Bygum, Anette

    2012-01-01

    Hereditary angioedema (HAE) is a rare inherited disease that is often difficult to diagnose. We report a case of a 9-year-old boy with a spontaneous mutation causing HAE, diagnosed after a life-threatening episode of angioedema of the head and upper respiratory tract after a 5-year history of r...

  3. Cataracts in airline pilots: prevalence and aeromedical considerations in Japan.

    Science.gov (United States)

    Kagami, Shino; Bradshaw, Steven E; Fukumoto, Masakatsu; Tsukui, Ippei

    2009-09-01

    Despite modern aviation being increasingly less dependent on human factors, the pilot is still part of the aircraft systems and vision is critical for flight safety. The incidence of cataract increases with age, but as most epidemiological studies focus on senior age groups, there is no data relevant to working age groups. The aim of our study was to elucidate the prevalence of lens opacity in Japanese airline pilots. A retrospective cohort study was conducted at the Japan Aeromedical Research Center. Medical records for all ophthalmological assessments performed in the 12-mo period prior to March 2008 were reviewed. Data collected included whether there was documented lens opacity or a history of previous cataract surgery. Over 12 mo, 3780 pilots underwent slit-lamp examination with an ophthalmologist as part of their scheduled medical and 105 pilots were identified with cataract. Out of these, 59/105 were bilateral, 29/105 were congenital types (of which 19 were bilateral), and 12/105 pilots gave a history of previous cataract surgery. In all 105 pilots, the visual acuity was sufficient to continue the privileges of their licenses. This study offers insight into the clinical iceberg of early cataracts in persons of working age. Mild and early lens opacities can cause significant glare and haze, and changes in color vision, which might compromise pilot performance even in the absence of decreased visual acuity. Cataracts in otherwise fit pilots have important aeromedical significance which requires further consideration.

  4. A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.

    Science.gov (United States)

    Malicdan, May Christine V; Noguchi, Satoru; Nonaka, Ikuya; Hayashi, Yukiko K; Nishino, Ichizo

    2007-11-15

    Distal myopathy with rimmed vacuoles (DMRV) or hereditary inclusion body myopathy (hIBM) is an early adult-onset distal myopathy caused by mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene which encodes for a bifunctional enzyme involved in sialic acid biosynthesis. It is pathologically characterized by the presence of rimmed vacuoles (RVs), especially in atrophic fibers, which also occasionally contain congophilic materials that are immunoreactive to beta-amyloid, lysosomal proteins, ubiquitin and tau proteins. To elucidate the pathomechanism of this myopathy and to explore treatment options, we generated a mouse model of DMRV/hIBM. We knocked out the Gne gene in mice but this resulted in embryonic lethality. We therefore generated a transgenic mouse that expressed the human GNE D176V mutation, which is one of the most prevalent mutations among Japanese DMRV patients, and crossed this with Gne(+/-) mice to obtain Gne(-/-)hGNED176V-Tg. Interestingly, these mice exhibit marked hyposialylation in serum, muscle and other organs. Reduction in motor performance in these mice can only be seen from 30 weeks of age. A compelling finding is the development of beta-amyloid deposition in myofibers by 32 weeks, which clearly precedes RV formation at 42 weeks. These results show that the Gne(-/-)hGNED176V-Tg mouse mimics the clinical, histopathological and biochemical features of DMRV/hIBM, making it useful for understanding the pathomechanism of this myopathy and for employing different strategies for therapy. Our findings underscore the notion that hyposialylation plays an important role in the pathomechanism of DMRV/hIBM.

  5. A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.

    Science.gov (United States)

    Malicdan, May Christine V; Noguchi, Satoru; Nonaka, Ikuya; Hayashi, Yukiko K; Nishino, Ichizo

    2007-01-15

    Distal myopathy with rimmed vacuoles (DMRV) or hereditary inclusion myopathy (h-IBM) is an early adult-onset distal myopathy caused by mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene which encodes for a bifunctional enzyme involved in sialic acid biosynthesis. It is pathologically characterized by the presence of rimmed vacuoles especially in atrophic fibers, which also occasionally contain congophilic materials that are immunoreactive to beta-amyloid, lysosomal proteins, ubiquitin and tau proteins. To elucidate the pathomechanism of this myopathy and to explore the treatment options, we generated a mouse model of DMRV/h-IBM. We knocked out the Gne gene in the mouse, but this resulted in embryonic lethality. We therefore generated a transgenic mouse that expressed the human GNEV572L mutation, which is the most prevalent among Japanese DMRV patients, and crossed this with Gne((+/-)) mouse to obtain Gne((-/-))hGNEV572L-Tg. Interestingly, these mice exhibit marked hyposialylation in serum, muscle and other organs. Reduction in motor performance in these mice can only be seen from 30 weeks of age. A compelling finding is the development of beta-amyloid deposition in myofibers by 32 weeks, which clearly precedes rimmed vacuole formation at 42 weeks. These results show that the Gne((-/-)) hGNEV572L-Tg mouse mimics the clinical, histopathological and biochemical features of DMRV/h-IBM, making it useful for understanding the pathomechanism of this myopathy and for employing different strategies for therapy. Our findings underscore the notion that hyposialylation plays an important role in the pathomechanism of DMRV/h-IBM.

  6. Etiopathogenesis of cataract: An appraisal

    Directory of Open Access Journals (Sweden)

    Varun B Gupta

    2014-01-01

    Full Text Available Natural eye lens is a crystalline substance to produce a clear passage for light. Cataract is opacity within the clear lens of the eye and is the dominant cause of socio-medical problem i.e., blindness worldwide. The only available treatment of cataract is surgery. However, insufficient surgical facilities in poor and developing countries and post-operative complications inspire researchers to find out other modes of treatment for cataract. In this review, an attempt has been made to appraise various etiological factors of cataract to make their perception clear to build up counterpart treatment. Present study is an assortment of various available literatures and electronic information in view of cataract etiopathogenesis. Various risk factors have been identified in development of cataracts. They can be classified in to genetic factors, ageing (systemic diseases, nutritional and trace metals deficiencies, smoking, oxidative stress etc., traumatic, complicated (inflammatory and degenerative diseases of eye, metabolic (diabetes, galactosemia etc., toxic substances including drugs abuses, alcohol etc., radiation (ultraviolet, electromagnetic waves etc. are implicated as significant risk factors in the development of cataract.

  7. Etiopathogenesis of cataract: An appraisal

    Science.gov (United States)

    Gupta, Varun B; Rajagopala, Manjusha; Ravishankar, Basavaiah

    2014-01-01

    Natural eye lens is a crystalline substance to produce a clear passage for light. Cataract is opacity within the clear lens of the eye and is the dominant cause of socio-medical problem i.e., blindness worldwide. The only available treatment of cataract is surgery. However, insufficient surgical facilities in poor and developing countries and post-operative complications inspire researchers to find out other modes of treatment for cataract. In this review, an attempt has been made to appraise various etiological factors of cataract to make their perception clear to build up counterpart treatment. Present study is an assortment of various available literatures and electronic information in view of cataract etiopathogenesis. Various risk factors have been identified in development of cataracts. They can be classified in to genetic factors, ageing (systemic diseases, nutritional and trace metals deficiencies, smoking, oxidative stress etc.), traumatic, complicated (inflammatory and degenerative diseases of eye), metabolic (diabetes, galactosemia etc.), toxic substances including drugs abuses, alcohol etc., radiation (ultraviolet, electromagnetic waves etc.) are implicated as significant risk factors in the development of cataract. PMID:24618482

  8. A Global View on Output and Outcomes of Cataract Surgery With National Indices of Socioeconomic Development.

    Science.gov (United States)

    Wang, Wei; Yan, William; Müller, Andreas; He, Mingguang

    2017-07-01

    Cataract blindness accounts for a substantial proportion of blindness worldwide. Understanding the correlations between national levels of socioeconomic development with the quantity and quality of cataract surgery may provide insight for the prioritization and resource allocation for blindness prevention programs. The relationships between human development index (HDI), gross domestic product (GDP) per capita, and cataract surgical coverage (CSC) and visual outcome of cataract surgery were examined in a multinational study utilizing secondary data from the repository for Rapid Assessment of Avoidable Blindness (RAAB), World Health Organization, Global Burden of Disease, United Nations, and the World Bank. A total of 266 RAAB studies across 73 countries/territories were retrieved. Linear regression model results revealed strong associations of HDI with prevalence of cataract blindness (β = -7.056, P cataract blindness (β = -0.527, P = 0.001), lower CSC (β = 9.800, P cataract surgery (all P cataract surgery. These socioeconomic indicators should be considered as important factors for developing strategies aimed to improve worldwide cataract surgery service delivery.

  9. Antioxidative activities of 4-hydroxy-3(2H)-furanones and their anti-cataract effect on spontaneous cataract rat (ICR/f).

    Science.gov (United States)

    Sasaki, T; Yamakoshi, J; Saito, M; Kasai, K; Matsudo, T; Koga, T; Mori, K

    1998-10-01

    We determined the anti-cataract effects and antioxidative activities of four 4-hydroxy-3(2H)-furanones. These four furanones showed similar antioxidative activities in the ferric ion reduction model. 4-Hydroxy-2,5-dimethyl-3(2H)-furanone (HDMF) and 2(or 5)-ethyl-4-hydroxy-5(or 2)-methyl-3(2H)-furanone (EHMF) exhibited a higher suppression effect on lipid peroxidation in human plasma than the other furanones did. The effects of hydroxy furanones on the onset of cataract in spontaneous cataract rat (ICR/f rat) were tested, and it was observed that HDMF and EHMF inhibited cataract formation. These results suggest that the antioxidative activity of HDMF and EHMF against superoxide radicals in lens tissue contributed to inhibiting the onset of spontaneous cataract.

  10. Hereditary Renal Diseases.

    Science.gov (United States)

    Mehta, Lakshmi; Jim, Belinda

    2017-07-01

    Hereditary kidney disease comprises approximately 10% of adults and nearly all children who require renal replacement therapy. Technologic advances have improved our ability to perform genetic diagnosis and enhanced our understanding of renal and syndromic diseases. In this article, we review the genetics of renal diseases, including common monogenic diseases such as polycystic kidney disease, Alport syndrome, and Fabry disease, as well as complex disorders such as congenital anomalies of the kidney and urinary tract. We provide the nephrologist with a general strategy to approach hereditary disorders, which includes a discussion of commonly used genetic tests, a guide to genetic counseling, and reproductive options such as prenatal diagnosis or pre-implantation genetic diagnosis for at-risk couples. Finally, we review pregnancy outcomes in certain renal diseases. Copyright © 2017 Elsevier Inc. All rights reserved.

  11. Hereditary breast cancer

    DEFF Research Database (Denmark)

    Larsen, Martin J; Thomassen, Mads; Gerdes, Anne-Marie

    2014-01-01

    Pathogenic mutations in BRCA1 or BRCA2 are only detected in 25% of families with a strong history of breast cancer, though hereditary factors are expected to be involved in the remaining families with no recognized mutation. Molecular characterization is expected to provide new insight...... into the tumor biology to guide the search of new high-risk alleles and provide better classification of the growing number of BRCA1/2 variants of unknown significance (VUS). In this review, we provide an overview of hereditary breast cancer, its genetic background, and clinical implications, before focusing...... on the pathologically and molecular features associated with the disease. Recent transcriptome and genome profiling studies of tumor series from BRCA1/2 mutation carriers as well as familial non-BRCA1/2 will be discussed. Special attention is paid to its association with molecular breast cancer subtypes as well...

  12. Congenital cataract screening

    Directory of Open Access Journals (Sweden)

    Zhale Rajavi

    2016-01-01

    Full Text Available Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (1 year is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender.

  13. Astigmatism in cataract surgery.

    Science.gov (United States)

    Luntz, M. H.; Livingston, D. G.

    1977-01-01

    We report on our investigation into astigmatism in 40 eyes following a corneal cataract incision closed with a continuous 10/0 nylon monofilament suture (Ethilon). Immediately after surgery there was astigmatism caused by the nylon suture (suture-induced astigmatism), its severity depending on the tightness of the suture. It ranged from 1 to 10-5 dioptres, the mean value 4-09 dioptres with a standard deviation of +/-2-5. Removing the nylon suture eliminated this astigmatism and within a few weeks the corneal astigmatism correction in 48% of eyes returned to the preoperative level. In 80% of eyes the difference between the final postoperative corneal astigmatism (4 months after removing the continuous suture) and the preoperative astigmatism was 0-75 dioptres or less and the maximum change was 1-5 dioptres. In 40% of eyes the axis of the cylinder changed from a horizontal to an oblique axis but did not change from a with- to against-the-rule axis. The degree of astigmatism remained constant while the suture was in place and in 50% of eyes was equal to or less than 3 dioptres. The mean of the spherical equivalents was 11-31 dioptres with a standard deviation of +/-1-25. A spectacle correction 14 days after operation prescribed either as the mean spherical equivalent (11-50 dioptres) or according to the patient's refraction will give satisfactory vision until the suture is removed 4 months after operation. The degree of astigmatism following a corneal section and continuous nylon suture compares very favourably with astigmatism following other suturing techniques for cataract. Images PMID:326304

  14. Hereditary neuropathies: An update.

    Science.gov (United States)

    Stojkovic, T

    2016-12-01

    Hereditary neuropathies are the most common inherited neuromuscular diseases. Charcot-Marie-Tooth (CMT) disease represents the most common form with an average prevalence ranging from 1/2500 to 1/1200, depending on the studies. To date and with the advances of the latest generation sequencing, more than 80 genes have been identified. Although the common clinical phenotype comprises a progressive distal muscle weakness and sensory loss, foot deformities and decreased or absent tendon reflexes, clinical and electrophysiological phenotypes exhibit great variability. Moreover, atypical phenotypes are arising, overlapping with spastic paraplegia, hereditary sensory neuropathies or amyotrophic lateral sclerosis. The causative genes are involved in various biological processes such as myelin development and maintenance, biosynthesis and degradation of proteins, neuronal structural maintenance, axonal transport, endocytosis, membrane dynamics, ion-channel function and the mitochondrial network. An accurate genetic diagnosis is important for appropriate genetic counselling and treatment options. Therapeutic advances, particularly small interfering RNA therapy, are encouraging in hereditary transthyretin amyloid neuropathy. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  15. HFE-Associated Hereditary Haemochromatosis

    OpenAIRE

    Eijkelkamp, Emmeke J; Yapp, Thomas R; Powell, Lawrie W

    2000-01-01

    Hereditary hemochromatosis is a common inherited disorder of the iron metabolism. Screening studies indicate that it has a prevalence of one in 200 to 400, depending on the population studied, and a carrier rate of about one in seven to one in 10. Feder et al identified the hereditary hemochromatosis gene (HFE) in 1996 and two candidate mutations; the C282Y mutation has been shown to be responsible for the majority of the hereditary hemochromatosis cases worldwide. The gene discovery has led ...

  16. Non-invasive tryptophan fluorescence measurements as a novel method of grading cataract.

    Science.gov (United States)

    Erichsen, Jesper Høiberg; Mensah, Aurore; Kessel, Line

    2017-12-01

    Development of non-invasive treatments for cataract calls for a sensitive diagnostic assay. We conducted a study to test whether the ratio of folded tryptophan to non-tryptophan fluorescence emission (F-factor) may be used for grading cataracts in human lenses. The F-factor was measured on aspirated lens material from eyes undergoing femtosecond laser assisted cataract surgery (FLACS) and was compared to a preoperative optical grading of cataract using Scheimpflug imaging. The preoperative optical grading allocated the cataracts to 1 of 4 categories according to the density of the cataract. All cataracts were age-related. Lens material from 16 eyes of 14 patients was included in the study. Cataracts were preoperatively graded in categories 1, 2 and 3. No lenses were category 4. For nuclear cataracts mean values of F-factor were 52.9 (SD 12.2), 61.7 (SD 5.3) and 75.7 (SD 8.9) for categories 1, 2 and 3 respectively. Linear regression on F-factor as a function of preoperative grading category showed increasing values of F-factor with increasing preoperative grading category, R2 = 0.515. Our experiment showed that preoperative optical grading of cataracts by Scheimpflug imaging may correlate to measures of tryptophan and non-tryptophan fluorescence in human lenses. Based on our results we find that measuring the ratio between tryptophan- and non-tryptophan fluorescence may be a future tool for grading cataracts, but further research is needed. Copyright © 2017 Elsevier Ltd. All rights reserved.

  17. IOL Implants: Lens Replacement and Cataract Surgery (Intraocular Lenses)

    Science.gov (United States)

    ... Cataract Surgery vs. Laser-Assisted Cataract Surgery Cataract Vision Simulator Cataract Pictures and Videos: What Do ... Nov. 16, 2016 An intraocular lens (or IOL) is a tiny, artificial lens for the eye. It replaces the eye's ...

  18. Genetics Home Reference: hereditary hyperekplexia

    Science.gov (United States)

    ... Neuromuscular Disorders Health Topic: Sudden Infant Death Syndrome Genetic and Rare Diseases Information Center (1 link) Hereditary hyperekplexia Additional NIH Resources (1 link) National Institute ...

  19. Genetics Home Reference: hereditary fructose intolerance

    Science.gov (United States)

    ... Home Health Conditions Hereditary fructose intolerance Hereditary fructose intolerance Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Hereditary fructose intolerance is a condition that affects a person's ability ...

  20. Genetics Home Reference: hereditary diffuse gastric cancer

    Science.gov (United States)

    ... Health Conditions Hereditary diffuse gastric cancer Hereditary diffuse gastric cancer Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Hereditary diffuse gastric cancer (HDGC) is an inherited disorder that greatly increases ...

  1. Cataract mutations and lens development.

    Science.gov (United States)

    Graw, J

    1999-03-01

    as a candidate disease. The series of Cat2 mutations have been mapped close to the locus encoding the gamma-crystallin gene cluster Cryg [Löster et al. (1994) Genomics 23, 240-242]. The Cat2nop mutation is characterized by a deletion of 11 bp and an insertion of 4 bp in the 3rd exon of Crygh leading to a truncated gamma B-crystallin. The defect in the Crygh gene is causative for the stop of lens fiber cell differentiation from embryonic day 15.5 onward. Besides the lens, no further ocular tissue is affected. The Cat2 mouse mutants are interesting models for human cataracts caused by mutations in the gamma-crystallin genes at human chromosome 2q32-35. The ak, Cat3 and Cat2 mutants are discussed in the context of other mutants affecting early eye and lens development. Additionally, human congenital cataracts are discussed, which have been characterized similar to the mouse models. The overview of the three types of mutants demonstrates that genes, which affect the early eye development, e.g. at the lens vesicle stage, have consequences for the development of the whole eye. In contrast, if the mutation influences later steps of lens differentiation, the consequences are restricted to the lens only. These data indicate a decreasing effect of the lens for the regulation of eye development during embryogenesis.

  2. An Internal Disulfide Locks a Misfolded Aggregation-Prone Intermediate in Cataract-Linked Mutants of Human Gamma-D Crystallin

    Science.gov (United States)

    Serebryany, Eugene; Woodard, Jaie C.; Adkar, Bharat V.; Shabab, Mohammed; King, Jonathan A.; Shakhnovich, Eugene I.

    2017-02-01

    Considerable mechanistic insight has been gained into amyloid aggregation; however, a large class of non-amyloid protein aggregates are considered 'amorphous,' and in most cases little is known about their mechanisms. Amorphous aggregation of {\\gamma}-crystallins in the eye lens causes a widespread disease of aging, cataract. We combined simulations and experiments to study the mechanism of aggregation of two {\\gamma}D-crystallin mutants, W42R and W42Q - the former a congenital cataract mutation, and the latter a mimic of age-related oxidative damage. We found that formation of an internal disulfide was necessary and sufficient for aggregation under physiological conditions. Two-chain all-atom simulations predicted that one non-native disulfide in particular, between Cys32 and Cys41, was likely to stabilize an unfolding intermediate prone to intermolecular interactions. Mass spectrometry and mutagenesis experiments confirmed the presence of this bond in the aggregates and its necessity for oxidative aggregation under physiological conditions in vitro. Mining the simulation data linked formation of this disulfide to extrusion of the N-terminal \\b{eta}-hairpin and rearrangement of the native \\b{eta}-sheet topology. Specific binding between the extruded hairpin and a distal \\b{eta}-sheet, in an intermolecular chain reaction similar to domain swapping, is the most probable mechanism of aggregate propagation.

  3. Modern cataract surgery for radiation-induced cataracts in retinoblastoma.

    Science.gov (United States)

    Osman, Ihab M; Abouzeid, Hana; Balmer, Aubin; Gaillard, Marie-Claire; Othenin-Girard, Philippe; Pica, Alessia; Moeckli, Raphaël; Schorderet, Daniel F; Munier, Francis L

    2011-02-01

    Surgery of radiation-induced cataracts in children with retinoblastoma (RB) is a challenge as early intervention is weighted against the need to delay surgery until complete tumour control is obtained. This study analyses the safety and functional results of such surgery. In a retrospective, non-comparative, consecutive case series, we reviewed medical records of RB patients ≤ 14 y of age who underwent either external beam radiotherapy or plaque treatment and were operated for radiation-induced cataract between 1985 and 2008. In total, 21 eyes of 20 RB patients were included and 18 out of the 21 eyes had Reese-Ellsworth stage V or ABC classification group D/E RB. Median interval between last treatment for RB and cataract surgery was 21.5 months, range 3-164 months. Phacoaspiration was performed in 13 eyes (61%), extra-capsular cataract extraction in 8 (39%) and intraocular lens implantation in 19 eyes (90%). The majority of cases, 11/21 (52%), underwent posterior capsulorhexis or capsulotomy and 6/21 (28%) an anterior vitrectomy. Postoperative visual acuity was ≥ 20/200 in 13 eyes and < 20/200 in 5 eyes. Intraocular tumour recurrence was noted in three eyes. Mean postoperative follow up was 90 months ± 69 months. Modern cataract surgery, including clear cornea approach, lens aspiration with posterior capsulotomy, anterior vitrectomy and IOL implantation is a safe procedure for radiation-induced cataract as long as RB is controlled. The visual prognosis is limited by initial tumour involvement of the macula and by corneal complications of radiotherapy. We recommend a minimal interval of 9 months between completion of treatment of retinoblastoma and cataract surgery.

  4. Low-Dose Radiation Cataract and Genetic Determinants of Radiosensitivity

    Energy Technology Data Exchange (ETDEWEB)

    Kleiman, Norman Jay [Columbia University

    2013-11-30

    The lens of the eye is one of the most radiosensitive tissues in the body. Ocular ionizing radiation exposure results in characteristic, dose related, progressive lens changes leading to cataract formation. While initial, early stages of lens opacification may not cause visual disability, the severity of such changes progressively increases with dose until vision is impaired and cataract extraction surgery may be required. Because of the transparency of the eye, radiation induced lens changes can easily be followed non-invasively over time. Thus, the lens provides a unique model system in which to study the effects of low dose ionizing radiation exposure in a complex, highly organized tissue. Despite this observation, considerable uncertainties remain surrounding the relationship between dose and risk of developing radiation cataract. For example, a growing number of human epidemiological findings suggest significant risk among various groups of occupationally and accidentally exposed individuals and confidence intervals that include zero dose. Nevertheless, questions remain concerning the relationship between lens opacities, visual disability, clinical cataract, threshold dose and/or the role of genetics in determining radiosensitivity. Experimentally, the response of the rodent eye to radiation is quite similar to that in humans and thus animal studies are well suited to examine the relationship between radiation exposure, genetic determinants of radiosensitivity and cataractogenesis. The current work has expanded our knowledge of the low-dose effects of X-irradiation or high-LET heavy ion exposure on timing and progression of radiation cataract and has provided new information on the genetic, molecular, biochemical and cell biological features which contribute to this pathology. Furthermore, findings have indicated that single and/or multiple haploinsufficiency for various genes involved in DNA repair and cell cycle checkpoint control, such as Atm, Brca1 or Rad9

  5. [Selenium and cataract--risk factor or useful dietary supplement?].

    Science.gov (United States)

    Dawczynski, J; Winnefeld, K; Königsdörffer, E; Augsten, R; Blum, M; Strobel, J

    2006-08-01

    The exact role of selenium in cataract development is still unclear. Both protective and toxic effects and mechanisms have been postulated in the past. Accordingly, the selenium contents in human lenses and blood sera in different forms of cataract were investigated. 123 patients (76 female and 37 male) with a mean age of 69.8 years (range: 17 to 91 years) were enrolled in this study. Overall, 84 lenses (after ECCE) and 110 blood serum samples were investigated by atomic absorption spectroscopy. Interpretation of data was accompanied by exact preoperative investigations including Scheimpflug techniques. A significant increase of selenium content of the lenses was found with increasing lens opacification and colouration. Lenses with a mature cataract showed the highest selenium contents in the lens compared to other cataract forms. Opposite results were detected in blood serum. Lenses of diabetics showed already at a younger age changes in selenium content. Smokers showed both decreased selenium contents in the lens and decreased selenium concentration in blood serum. An obvious correlation between the type of cataract and selenium content of the lens seems to exist. The question by which mechanism selenium acts directly or by selenium-dependent enzymes acts lens opacification remains speculative up to now.

  6. Diet, vegetarianism, and cataract risk.

    Science.gov (United States)

    Appleby, Paul N; Allen, Naomi E; Key, Timothy J

    2011-05-01

    Age-related cataract is a major cause of morbidity. Previous studies of diet and cataract risk have focused on specific nutrients or healthy eating indexes but not on identifiable dietary groups such as vegetarians. We investigated the association between diet and cataract risk in a population that has a wide range of diets and includes a high proportion of vegetarians. We used Cox proportional hazards regression to study cataract risk in relation to baseline dietary and lifestyle characteristics of 27,670 self-reported nondiabetic participants aged ≥40 y at recruitment in the Oxford (United Kingdom) arm of the European Prospective Investigation into Cancer and Nutrition (EPIC-Oxford) by using data from the Hospital Episode Statistics in England and Scottish Morbidity Records. There was a strong relation between cataract risk and diet group, with a progressive decrease in risk of cataract in high meat eaters to low meat eaters, fish eaters (participants who ate fish but not meat), vegetarians, and vegans. After multivariable adjustment, incidence rate ratios (95% CIs) for moderate meat eaters (50-99 g meat/d), low meat eaters (vegetarians, and vegans compared with high-meat eaters (≥100 g meat/d) were 0.96 (0.84, 1.11), 0.85 (0.72, 0.99), 0.79 (0.65, 0.97), 0.70 (0.58, 0.84), and 0.60 (0.38, 0.96), respectively (P Vegetarians were at lower risk of cataract than were meat eaters in this cohort of health-conscious British residents.

  7. Canine hereditary ataxia.

    Science.gov (United States)

    Urkasemsin, Ganokon; Olby, Natasha J

    2014-11-01

    The hereditary ataxias are a group of neurodegenerative diseases that cause a progressive (or episodic) cerebellar ataxia. A large number of different disorders have been described in different breeds of purebred dog, and in some instances, more than one disorder occurs in a single breed, creating a confusing clinical picture. The mutations associated with these disorders are being described at a rapid rate, potentially changing our ability to prevent, diagnose, and treat affected dogs. A breed-related neurodegenerative process should be suspected in any pure bred dog with slowly progressive, symmetric signs of ataxia. Copyright © 2014 Elsevier Inc. All rights reserved.

  8. Hereditary angioedema in women

    Directory of Open Access Journals (Sweden)

    Bouillet Laurence

    2010-07-01

    Full Text Available Abstract Women with hereditary angioedema (HAE are more likely to be symptomatic that men. Hormonal factors (puberty, contraception, pregnancy,.... play a significant role in the precipitation or worsening of the condition in women. So, combined contraceptive pills are not indicated and progestogen pill must be preferred. During pregnancy, attack rate can increase (38-48% of women. C1Inhibitor concentrate and tranexamic acid can be used during pregnancy. Attenuated androgens for long term prophylaxis are effective but side effects appear more often in female patients. These side effects are dose dependant and can be attenuated by titrating the dose down the lowest effective level.

  9. HFE-associated hereditary hemochromatosis

    NARCIS (Netherlands)

    Eijkelkamp, EJ; Yapp, TR; Powell, LW

    Hereditary hemochromatosis is a common inherited disorder of the iron metabolism Screening studies indicate that it has a prevalence of one in 200 to 400, depending on the population studied, and a carrier rate of about one in seven to one in 10. Feder et al identified the hereditary hemochromatosis

  10. EAMJ Oct Hereditary.indd

    African Journals Online (AJOL)

    HEREDITARY GINGIVAL FIBROMATOSIS: REPORT OF FAMILY CASE SERIES. E. G. WAGAIYU, R. N. NG'ANG'A and A. M. KEMOLI. SUMMARY. Hereditary gingival hyperplasia (HGF) is a rare condition characterised by hyperplastic, dense fibrous connective tissue with acanthotic gingival epithelium. A family presented.

  11. Cataract Surgery in the Glaucoma Patient

    Science.gov (United States)

    Kung, Jennifer S.; Choi, Daniel Y.; Cheema, Anjum S.; Singh, Kuldev

    2015-01-01

    To summarize the role of cataract surgery in the glaucoma patient, in terms of the effect on intraocular pressure (IOP) as well as diagnostic and therapeutic considerations for those with both conditions. Recent evidence suggests that cataract extraction may produce a significant and sustained IOP reduction in individuals with open-angle glaucoma, ocular hypertension, and angle-closure glaucoma. Cataract removal may improve the practitioner's ability to interpret perimetric testing, and re-establishing perimetric and optic nerve imaging baselines is recommended after cataract surgery. The sequence of cataract surgery relative to glaucoma surgery impacts the likelihood of complications and surgical success. There are multiple benefits to perform cataract surgery prior to glaucoma surgery while cataract surgery after trabeculectomy increases the risk of subsequent filtration failure. As “minimally invasive glaucoma surgeries” continue to improve in terms of efficacy, there is an evolving role for combined cataract and glaucoma surgery in patients with early to moderate stages of glaucoma. PMID:25624668

  12. Anaesthesia for paediatric cataracts in developing countries - a ...

    African Journals Online (AJOL)

    Consequently, several centres have developed different approaches for the administration of anaesthesia in the management of these paediatric cataracts. Ketamine alone or with adjunct local anaesthesia is widely used. There is a real need for paediatric anaesthesia resources (human and material) in many developing ...

  13. Socioeconomic Disparity in Global Burden of Cataract: An Analysis for 2013 With Time Trends Since 1990.

    Science.gov (United States)

    Lou, Lixia; Wang, Jingyi; Xu, Peifang; Ye, Xin; Ye, Juan

    2017-08-01

    To assess socioeconomic disparity in global burden of cataract, by using disability-adjusted life years (DALYs). International, comparative burden-of-disease study. Published data on national age-standardized DALY rates caused by cataract and human development index (HDI) between 1990 and 2013 were obtained. The association between age-standardized DALY rates and HDI in 2013 was analyzed. The health-related Gini coefficients and the concentration indexes were calculated to explore the trends in between-country inequality in cataract burden from 1990 to 2013. Multiple comparison revealed that lower-HDI countries had higher age-standardized DALY rates caused by cataract. Age-standardized DALY rates were inversely associated with HDI (β = -0.522, P cataract was accompanied by widening inequality, with cataract burden being more concentrated in countries with lower socioeconomic status. The findings highlight the need to provide more cataract services for developing countries, to combat global vision loss caused by cataract. Copyright © 2017 Elsevier Inc. All rights reserved.

  14. Advances in hard nucleus cataract surgery

    Directory of Open Access Journals (Sweden)

    Wei Cui

    2013-11-01

    Full Text Available Security and perfect vision and fewer complications are our goals in cataract surgery, and hard-nucleus cataract surgery is always a difficulty one. Many new studies indicate that micro-incision phacoemulsification in treating hard nucleus cataract is obviously effective. This article reviews the evolution process of hard nuclear cataract surgery, the new progress in the research of artificial intraocular lens for microincision, and analyse advantages and disadvantages of various surgical methods.

  15. Blindness, cataract surgery and mortality in Ethiopia.

    Science.gov (United States)

    Thomas, Benjamin J; Sanders, David S; Oliva, Matthew S; Orrs, Mark S; Glick, Peter; Ruit, Sanduk; Chen, Wei; Luoto, Jill; Tasfaw, Alemu Kerie; Tabin, Geoffrey C

    2016-09-01

    To examine the relationships between blindness, the intervention of cataract surgery and all-cause mortality in a rural Ethiopian population. Population-based, interventional prospective study. Community-based detection methods identified blind Ethiopian persons from two selected kebeles in Amhara region, Ethiopia. Data from 1201 blind patients were collected-628 cataract-blind and 573 blind from other conditions. Free cataract surgery was provided for consenting, cataract-blind patients. Follow-up surveys were conducted after 12 months (±1 month)-the main outcome measure for this report is all-cause mortality at 1 year. During the follow-up period, 110 persons died from the selected population (mortality 9.2%), which consisted of those cataract-blind patients who received cataract surgery (N=461), cataract-blind patients who did not receive surgery (N=167) and all non-cataract-blind patients (N=573). Of the 461 patients who received cataract surgery, 44 patients died (9.5%). Of the 740 patients who did not receive surgery, 66 died (8.9%)-28 patients from the cohort of cataract-blind patients who did not receive surgery (16.8%) and 38 patients from the cohort of non-cataract blind (6.6%). Subgroup analysis revealed significantly increased odds of mortality for cataract-blind patients over 75 years of age who did not receive surgery and for unmarried patients of all age groups. In this population, mortality risk was significantly elevated for older cataract-blind patients when compared with non-cataract-blind patients-an elevation of risk that was not noted in an age-matched cohort of cataract-blind patients who underwent cataract surgery as early as 1-year follow-up. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  16. Cataract surgery output and cost of hospitalization for cataract ...

    African Journals Online (AJOL)

    La cataracte avait la fréquence la plus élevée comme a cause de la cécité guérissable au Nigéria. Approximativement, le total de la population nigériane est 110 million et le taux de la fréquence de la cécité est 1%. La cataracte est la cause principale de 30 à 60% cas des cécité. Si nous devons réussir à éliminer les arrièrs ...

  17. Elimination of avoidable blindness due to cataract: Where do we prioritize and how should we monitor this decade?

    Directory of Open Access Journals (Sweden)

    Gudlavalleti VS Murthy

    2012-01-01

    Full Text Available Background: In the final push toward the elimination of avoidable blindness, cataract occupies a position of eminence for the success of the Right to Sight initiative. Aims: Review existing situation and assess what monitoring indicators may be useful to chart progress towards attaining the goals of Vision 2020. Settings and Design: Review of published papers from low and middle income countries since 2000. Materials and Methods: Published population-based data on prevalence of cataract blindness/visual impairment were accessed and prevalence of cataract blindness/visual impairment computed, where not reported. Data on prevalence of cataract blindness, cataract surgical coverage at different visual acuity cut offs, surgical outcomes, and prevalence of cataract surgery were analyzed. Scatter plots were used to look at relationships of some variables, with Human Development Index (HDI rank. Available data on Cataract Surgical Rate (CSR was plotted against prevalence of cataract surgery reported from surveys. Results: Worse HDI Ranks were associated with higher prevalence of cataract blindness. Most studies showed that a significant proportion of the blind were covered by surgery, while a fifth showed that a significant proportion, were operated before they went blind. A good visual outcome after surgery was positively correlated with higher surgical coverage. CSR was positively correlated with cataract surgical coverage. Conclusions: Cataract surgical coverage is increasing in most countries at vision <3/60 and visual outcomes after cataract surgery are improving. Establishing population-based surveillance of cataract surgical need and performance is a strong monitoring tool and will help program planners immensely.

  18. Comprehensive Management of Pediatric Cataract in Africa

    African Journals Online (AJOL)

    For reprints contact: reprints@medknow.com. REVIEW ARTICLE .... Children are smart: We just have to be smarter. One may use direct and ... of the lens. It is generally larger than a nuclear cataract and develops at a later stage of lens formation than nuclear cataracts. Posterior subcapsular cataract. These are irregular ...

  19. A case report of spontaneous mutation (C33>U) in the iron-responsive element of L-ferritin causing hyperferritinemia-cataract syndrome.

    LENUS (Irish Health Repository)

    Cao, Wei

    2010-01-15

    The hereditary hyperferritinemia cataract syndrome (HHCS) is an autosomal dominant disorder characterized by juvenile-onset cataracts and elevated serum ferritin levels. It is caused by mutation in the iron response element (IRE) within the 5\\'UTR of L-ferritin gene. The mutation results in a loss of post-transcriptional negative feedback exerted by the interaction between iron regulatory proteins 1, 2 (IRP1 and IRP2) and IRE, which leads to uncontrolled expression of L-ferritin. In this paper, we describe the molecular pathogenesis of non-hereditary hyperferritinemia cataract syndrome (non-H-HCS) in a patient with typical HHCS ocular lens morphology and high ferritin levels without obvious family history. Initial sequencing of the full-length L-ferritin cloned from genomic DNA demonstrated a mutation (C33>T) in the IRE of the affected patient but not in her unaffected family members. The mutation (C\\/T heterozygote) was also detected in cDNA derived from her blood mononuclear cells. Structure-prediction-modeling indicates that this mutation would significantly alter the secondary structure of the IRE, resulting in a loss of the interaction between IRP and IRE. By using IRP1\\/IRP2-human IgG1 Fc fusion proteins, we established a novel in vitro report system (modified ELISA) to verify impaired IRE\\/IRP binding. Both the C33>U and A40G mutations (the first identified mutation for HHCS) showed a dramatically decreased binding to IRP1\\/IRP2 protein, compared to the normal IRE RNA. Surprisingly, a decrease in L-ferritin mRNA levels was observed in the affected patient compared to controls suggesting a mechanism of transcriptional negative feedback by high intracellular L-ferritin protein levels not described heretofore. Taken together, spontaneous mutation in the IRE of L-ferritin may cause non-H-HCS by the same mechanism as HHCS. In addition, under abnormal circumstances, the protein level of L-ferritin may be principally controlled by post

  20. Immediate Sequential Bilateral Cataract Surgery

    DEFF Research Database (Denmark)

    Kessel, Line; Andresen, Jens; Erngaard, Ditte

    2015-01-01

    The aim of the present systematic review was to examine the benefits and harms associated with immediate sequential bilateral cataract surgery (ISBCS) with specific emphasis on the rate of complications, postoperative anisometropia, and subjective visual function in order to formulate evidence......-based national Danish guidelines for cataract surgery. A systematic literature review in PubMed, Embase, and Cochrane central databases identified three randomized controlled trials that compared outcome in patients randomized to ISBCS or bilateral cataract surgery on two different dates. Meta-analyses were...... performed using the Cochrane Review Manager software. The quality of the evidence was assessed using the GRADE method (Grading of Recommendation, Assessment, Development, and Evaluation). We did not find any difference in the risk of complications or visual outcome in patients randomized to ISBCS or surgery...

  1. Cataract surgery in ancient Egypt.

    Science.gov (United States)

    Blomstedt, Patric

    2014-03-01

    Ophthalmology was one of the most important specialties in Egyptian medicine, and more specialists are known in this field than in any other. This specialization seems, however, to have been of a purely noninvasive nature. Even though it has been claimed that cataract surgery was performed in pharaonic Egypt, careful analysis of the sources does not support the claim. No example of cataract surgery or of any other invasive ophthalmologic procedure can be found in the original sources. Copyright © 2014 ASCRS and ESCRS. Published by Elsevier Inc. All rights reserved.

  2. Hereditary pancreatitis for the endoscopist

    Science.gov (United States)

    Patel, Milan R.; Eppolito, Amanda L.

    2013-01-01

    Hereditary pancreatitis shares a majority of clinical and morphologic features with chronic alcoholic pancreatitis, but may present at an earlier age. The term hereditary pancreatitis has primarily been associated with mutations in the serine protease 1 gene (PRSS1) which encodes for cationic trypsinogen. PRSS1 mutations account for approximately 68–81% of hereditary pancreatitis. Mutations in other genes, primarily serine protease inhibitor Kazal type 1 (SPINK1) and the cystic fibrosis transmembrane conductance regulator (CFTR) are also associated with hereditary pancreatitis. While chronic alcoholic pancreatitis may develop in the fourth or fifth decades, patients with hereditary pancreatitis may develop symptoms in the first or second decades of life. Hereditary pancreatitis is diagnosed either by detecting a causative gene mutation or by the presence of chronic pancreatitis in two first-degree or three second-degree relatives, in two or more generations, without precipitating factors and with a negative workup for known causes. Patients with hereditary pancreatitis may have recurrent acute pancreatitis and may develop pancreatic exocrine and endocrine insufficiency. Hereditary pancreatitis may involve premature trypsinogen activation or decreased control of trypsin. Recurrent inflammation can lead to acute pancreatitis and subsequently to chronic pancreatitis with parenchymal calcification. There is a markedly increased risk of pancreatic carcinoma compared with the general population. Patients are often referred for evaluation of pancreatitis, biliary or pancreatic ductal dilatation, jaundice, biliary obstruction, pancreatic duct stone or stricture, pancreatic pseudocysts, and for evaluation for malignancy. Medical treatment includes pancreatic enzyme supplementation, nutritional supplementation, diabetes management, and palliation of pain. Patients should avoid tobacco use and alcohol exposure. Hereditary pancreatitis is reviewed and recommendations for

  3. New technology update: femtosecond laser in cataract surgery

    Directory of Open Access Journals (Sweden)

    Nagy ZZ

    2014-06-01

    Full Text Available Zoltan Z NagyDepartment of Ophthalmology, Semmelweis University, Budapest, HungaryAbstract: Femtosecond lasers represent a new frontier in cataract surgery. Since their ­introduction and first human treatment in 2008, a lot of new developments have been achieved. In this review article, the physical principle of femtolasers is discussed, together with the indications and side effects of the method in cataract surgery. The most important clinical results are also presented regarding capsulotomy, fragmentation of the crystalline lens, corneal wound creation, and refractive results. Safety issues such as endothelial and macular changes are also discussed. The most important advantage of femtolaser cataract technology at present is that all the important surgical steps of cataract surgery can be planned and customized, delivering unparalleled accuracy, repeatability, and consistency in surgical results. The advantages of premium lenses can be maximally used in visual and presbyopia restoration as well. The advantages of ­premium lenses can be maximally used, not only in visual, but in presbyopia restoration as well. Quality of vision can be improved with less posterior chamber lens (PCL tilt, more centralized position of the PCL, possibly less endothelial damage, less macular edema, and less posterior capsule opacification (PCO formation. This technological achievement should be followed by other technical developments in the lens industry. Hopefully this review article will help us to understand the technology and the results to ­demonstrate the differences between the use of femtolasers and phacoemulsification-based cataract surgery. The most important data of the literature are summarized to show ophthalmologists the benefits of the technology in order to provide the best refractive results to the patient.Keywords: femtosecond laser-assisted cataract surgery, capsulotomy, lens fragmentation, corneal wound, arcuate keratotomy, safety

  4. [Hereditary and familial colorectal cancer].

    Science.gov (United States)

    Balaguer, Francesc

    2014-09-01

    Up to 5% of all colorectal cancer cases are caused by a known hereditary syndrome. These hereditary types often need a higher degree of clinical suspicion to be diagnosed and require specific and specialized management. In addition, diagnosing hereditary colorectal cancer has significant consequences not only for the patient, for whom there are effective preventative measures, but also for their families, who could be carriers of the condition. The most significant advances in the field of colorectal cancer have come from the diagnosis and characterization of these syndromes. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

  5. Hereditary neuromuscular diseases

    Energy Technology Data Exchange (ETDEWEB)

    Oezsarlak, O. E-mail: ozkan.ozsarlak@uza.be; Schepens, E.; Parizel, P.M.; Goethem, J.W. van; Vanhoenacker, F.; Schepper, A.M. de; Martin, J.J

    2001-12-01

    This article presents the actual classification of neuromuscular diseases based on present expansion of our knowledge and understanding due to genetic developments. It summarizes the genetic and clinical presentations of each disorder together with CT findings, which we studied in a large group of patients with neuromuscular diseases. The muscular dystrophies as the largest and most common group of hereditary muscle diseases will be highlighted by giving detailed information about the role of CT and MRI in the differential diagnosis. The radiological features of neuromuscular diseases are atrophy, hypertrophy, pseudohypertrophy and fatty infiltration of muscles on a selective basis. Although the patterns and distribution of involvement are characteristic in some of the diseases, the definition of the type of disease based on CT scan only is not always possible.

  6. Hereditary colorectal cancer diagnostics

    DEFF Research Database (Denmark)

    Klarskov, Louise; Holck, Susanne; Bernstein, Inge

    2012-01-01

    BackgroundThe hereditary non-polyposis colorectal cancer (HNPCC) subset of tumours can broadly be divided into tumours caused by an underlying mismatch-repair gene mutation, referred to as Lynch syndrome, and those that develop in families with similar patterns of heredity but without disease......-predisposing germline mismatch repair mutations, referred to as familial colorectal cancer type X (FCCTX). Recognition of HNPCC-associated colorectal cancers is central since surveillance programmes effectively reduce morbidity and mortality. The characteristic morphological features linked to Lynch syndrome can aid...... in the identification of this subset, whereas the possibility to use morphological features as an indicator of FCCTX is uncertain.Objective and methodsTo perform a detailed morphological evaluation of HNPCC-associated colorectal cancers and demonstrate significant differences between tumours associated with FCCTX...

  7. Hereditary Fructose Intolerance

    Directory of Open Access Journals (Sweden)

    N.V. Nagornaya

    2014-06-01

    Full Text Available Hereditary fructose intolerance, the prevalence of which is 1 : 20,000 population, is diagnosed much less frequently than is found in child and adult populations. Presented pathology is caused by a deficiency in ferment aldolase B and block of fructose transformation in the gastrointestinal tract with the accumulation of unprocessed fructose in the intestine, manifesting by characteristic symptom and numerous biochemical changes in the body. The disease is asymptomatic until a person begins to use fructose, sucrose or sorbitol. This article describes the fructose metabolism, genetic aspects of the discussing disease, the diversity of its clinical manifestations. The authors presented modern diagnostic criteria and international approaches to diet therapy.

  8. Association of angiotensin-converting enzyme, CYP46A1 genes polymorphism with senile cataract

    Science.gov (United States)

    Raza, Syed Tasleem; Abbas, Shania; Chandra, Anu; Singh, Luxmi; Rizvi, Saliha; Mahdi, Farzana

    2017-01-01

    Background: Senile cataract is the most common type of cataract characterized by gradual progressive thickening of the lens of the eye. Previously, many studies investigated the association between genetic polymorphism and senile cataract. Angiotensin-converting enzyme (ACE) I/D polymorphism is the potential risk factor for many eye-related diseases such as retinopathy and glaucoma. CYP46A1 enzyme converts cholesterol to 24S-hydroxycholesterol; human lens' membranes contain the highest cholesterol content. Defects in enzymes of cholesterol metabolism can be associated with cataracts. Hence, the present study was carried out to investigate the association of ACE and CYP46A1 genes polymorphism with senile cataract cases and controls. Materials and Methods: ACE (rs 4646994) and CYP46A1 (rs 754203) genes polymorphism in cases and controls were evaluated by polymerase chain reaction and restriction fragment length polymorphism. Results: This study included 103 senile cataract cases (55 were males and 48 were females) and 102 controls (53 were males and 49 were females). Mean age of cases in this study was 52.02 ± 12.11 years while in control group 53.74 ± 11.87 years. Frequencies of ACE ID, DD, and II genotypes in senile cataract cases were 64.07%, 4.85%, and 31.06% and controls were 61.76%, 26.47%, and 11.76%, respectively. The CYP46A1 gene CT, CC, and TT genotype frequencies were 48.54%, 8.73%, and 42.71% in senile cataract cases and 28.43%, 3.92%, and 67.64% in healthy controls, respectively. ACE DD and II genotypes (P polymorphism may be a predictive marker for early identification of population at risk of senile cataract. This potential role of ACE and CYP46A1 genes polymorphism as a marker of susceptibility to senile cataract needs further validation in studies involving larger number of patients from different regions. PMID:28298860

  9. Simulation-based certification for cataract surgery

    DEFF Research Database (Denmark)

    Thomsen, Ann Sofia Skou; Kiilgaard, Jens Folke; Kjaerbo, Hadi

    2015-01-01

    PURPOSE: To evaluate the EyeSi(™) simulator in regard to assessing competence in cataract surgery. The primary objective was to explore all simulator metrics to establish a proficiency-based test with solid evidence. The secondary objective was to evaluate whether the skill assessment was specific...... to cataract surgery. METHODS: We included 26 ophthalmic trainees (no cataract surgery experience), 11 experienced cataract surgeons (>4000 cataract procedures) and five vitreoretinal surgeons. All subjects completed 13 different modules twice. Simulator metrics were used for the assessments. RESULTS: Total...... than the experienced cataract surgeons (p = 0.32). CONCLUSION: We have established a performance test, consisting of seven modules on the EyeSi(™) simulator, which possess evidence of validity. The test is a useful and reliable tool for assessment of both cataract surgical and general microsurgical...

  10. Factors associated with strabismus after cataract extraction and primary intraocular lens implantation in congenital cataracts

    Directory of Open Access Journals (Sweden)

    Soo Jung Lee

    2014-06-01

    Full Text Available AIM: To evaluate factors associated with the development of strabismus after cataract extraction and primary intraocular lens implantation.METHODS: The medical records of 122 patients, aged 1.5mo to 9y, who had undergone cataract extraction with primary intraocular lens implantation between January 1993 and August 2011 were reviewed. Fourteen patients (17 eyes with strabismus before cataract surgery were excluded. Patients were divided into those with congenital bilateral cataracts (64 patients, 128 eyes and those with unilateral cataracts (44 patients, 44 eyes. The associations between the development of strabismus and age at cataract surgery, pre- and post-cataract extraction corrected distance visual acuity (CDVA, interocular CDVA difference, nystagmus, surgical method, and secondary cataract were evaluated.RESULTS: Factors significantly associated with the development of strabismus included age at cataract surgery (≤1y, preoperative mean CDVA ≤20/100, presence of nystagmus in the bilateral cataract group and postoperative interocular CDVA difference >20/70 in the unilateral group. Postoperative CDVA ≤20/100 and preservation of posterior capsule, and presence of secondary cataract were significant factors in both groups.CONCLUSION: Children with congenital cataracts should be monitored carefully after cataract surgery for the development of strabismus, especially when they underwent surgery at age ≤1y, and they have nystagmus, large postoperative interocular CDVA difference, poor preoperative and postoperative CDVA, preservation of the posterior capsule, or secondary cataract.

  11. Proteomic analysis of human cataract aqueous humour: Comparison of one-dimensional gel LCMS with two-dimensional LCMS of unlabelled and iTRAQ®-labelled specimens.

    Science.gov (United States)

    Bennett, Keiryn L; Funk, Marion; Tschernutter, Marion; Breitwieser, Florian P; Planyavsky, Melanie; Ubaida Mohien, Ceereena; Müller, André; Trajanoski, Zlatko; Colinge, Jacques; Superti-Furga, Giulio; Schmidt-Erfurth, Ursula

    2011-02-01

    In this study, we report a comparative and quantitative analysis by mass spectrometry of the protein content of aqueous humour from cataract (control) patients. In addition to protein profiling, the approach is layered with quantitative proteomics using the iTRAQ® methodology. Aqueous humour from ten clinically-matched patients was collected and depleted of albumin and immunoglobulin G. Pairs of patient material were pooled and divided into three aliquots for subsequent analysis by alternative proteomic approaches. Excluding keratin, trypsin, residual albumin and immunoglobulins, a total of 198 protein groups were identified across the entire study. Relative protein quantitation with iTRAQ® revealed that 88% of the proteins had a maximal ±2-fold differential regulation between 3 of the 4 labelled samples, indicating minimal variation. The identified proteins were categorised by gene ontology and one third of the proteins were annotated as extracellular. The major molecular functions of the proteins in aqueous humour are binding (protein, metal ion, heparin, and DNA) and inhibition of proteolytic activity. Complementary to molecular function, the predominant biological processes for the proteins in aqueous humour are assigned to inflammatory and immune responses, and transport. Copyright © 2010 Elsevier B.V. All rights reserved.

  12. Pediatric cataract surgery in Madagascar

    African Journals Online (AJOL)

    2013-03-28

    Mar 28, 2013 ... their encounters with the eye care facility, only 3 (3.5%) were provided with glasses. At last documented follow-up, 2.7% of the children had 6/18 vision or better. Conclusions: In Madagascar, presentation for congenital and developmental cataract is very late, visual outcome poor and follow-up inadequate.

  13. The Pediatric Cataract Register (PECARE)

    DEFF Research Database (Denmark)

    Haargaard, Birgitte; Nyström, Alf; Rosensvärd, Annika

    2015-01-01

    examination with a pencil light at age 5 weeks, whereas newborn red reflex examination using a handheld ophthalmoscope is routine protocol in Swedish maternity wards. Data regarding age of referral were derived from the Pediatric Cataract Register (PECARE). All children operated on before 1 year of age...

  14. Driving When You Have Cataracts

    Science.gov (United States)

    ... to plan car trips to avoid times when vision may be most affected; for example, driving west at dusk into a setting sun or ... lens will likely be replaced with a clear, artificial lens. With a new, clear lens, you will most likely be able to keep driving safely for many years to come. Cataract surgery ...

  15. Canine hereditary nephropathies : Molecular genetic studies in Norwegian Elkhounds and English Cocker Spaniels

    NARCIS (Netherlands)

    Wiersma, A.C.

    2007-01-01

    Hereditary nephropathies have been described in a variety of dog breeds. The causative mutation has been identified in a minority of canine renal diseases, and these provide useful animal models to study in order to gain knowledge on human nephropathies. In this thesis, canine hereditary

  16. Hereditary iron and copper deposition

    DEFF Research Database (Denmark)

    Aaseth, Jan; Flaten, Trond Peder; Andersen, Ole

    2007-01-01

    Hereditary deposition of iron (primary haemochromatosis) or copper (Wilson's disease) are autosomal recessive metabolic disease characterized by progressive liver pathology and subsequent involvement of various other organs. The prevalence of primary haemochromatosis is approximately 0.5%, about...

  17. Mutator gene and hereditary non-polyposis colorectal cancer

    Science.gov (United States)

    de la Chapelle, Albert [Helsingfors, FI; Vogelstein, Bert [Baltimore, MD; Kinzler, Kenneth W [Baltimore, MD

    2008-02-05

    The human MSH2 gene, responsible for hereditary non-polyposis colorectal cancer, was identified by virtue of its homology to the MutS class of genes, which are involved in DNA mismatch repair. The sequence of cDNA clones of the human gene are provided, and the sequence of the gene can be used to demonstrate the existence of germ line mutations in hereditary non-polyposis colorectal cancer (HNPCC) kindreds, as well as in replication error.sup.+ (RER.sup.+) tumor cells.

  18. Endothelial trauma in the surgery of cataract

    Directory of Open Access Journals (Sweden)

    Đurović Branislav M.

    2004-01-01

    Full Text Available Cataract surgery is most common in human surgery and comprises 80% of eye surgery programs. Owing to sophisticated technologies, it has become a routine surgery with lowered complications rate; hence, the functional outcome is more conditioned by operative trauma. The aim of this study was to demonstrate the significance of specular microscopy in the evaluation of operative trauma during extra-capsular cataract extraction (ECCE and phacoemulsification (P, in a controlled environment. The study included 100 consecutive patients who met the established criteria, and groups were formed according to the type of surgery by the assignment of successive numbers from a random number table. Examination and photographs of the corneal endothelium, as well as pachymetry were performed on Keeler-Konan Poclington Specular Microscope (KSP. The obtained results revealed significant dissimilarity in endothelial cell reduction (9.17% in group E, and 4.72% in group P, which generated statistically significant correlation of pre-operative and post-operative pachymetry in the group E (p=0.0004. On the basis of the results obtained by specular microscopy, it was concluded that under the same conditions phacoemulsification caused reduced operative trauma of the corneal endothelium.

  19. Long-term auxological and pubertal outcome of patients with hereditary insulin-like growth factor-I deficiency (Laron and growth hormone-gene deletion syndrome) treated with recombinant human insulin-like growth factor-I.

    Science.gov (United States)

    Messina, M F; Arrigo, T; Valenzise, M; Ghizzoni, L; Caruso-Nicoletti, M; Zucchini, S; Chiabotto, P; Crisafulli, G; Zirilli, G; De Luca, F

    2011-04-01

    GH-IGF-I axis is mainly involved in the complex process of somatic growth but emerging evidence suggests that it also influences hypothalamic-pituitary-gonadal (HPG) function. We report some data regarding long-term auxological and pubertal outcome of five female patients with hereditary forms of GH-IGF-I deficiency (Laron and GH-gene deletion syndrome) and a mean age of 23.4±5.3 yr (range 19-32). All the patients received recombinant human IGF-I (rhIGF-I, Pharmacia and Upjohn, Stockholm, Sweden, and rhIGF-I, Genentech, San Francisco, CA, USA) from a mean age of 8.6 yr (range 3.2-14.2) up to the final height. Final height was very disappointing (≤ -5.0 SD scores) and lower than target height in all the patients. Pubertal onset was delayed in most of them but menarche occurred spontaneously in all the patients. Median age at menarche was 15.1 yr. Menstrual cycles were regular for several years. Median duration of gynecological follow- up was 8.3 yr with the longest span of 17.2 yr. We can assert that GH-IGF-I axis has an essential role in promoting linear growth in humans and its physiological action cannot be replaced by pharmacological treatment in most patients with hereditary forms of IGF-I insufficiency as demonstrated by their subnormal final height. Our clinical observations can also support an essential role of IGF-I in genitalia growth but not in the function of HPG axis as demonstrated by the maintenance of regular menstrual cycles in the presence of subnormal levels of IGF-I after treatment discontinuation.

  20. Hereditary Renal Cancer Syndromes

    Science.gov (United States)

    Haas, Naomi B.

    2013-01-01

    Inherited susceptibility to kidney cancer is a fascinating and complex topic. Our knowledge about types of genetic syndromes associated with an increased risk of disease is continually expanding. Currently, there are 10 syndromes associated with an increased risk of all types of renal cancer, which are reviewed herein. Clear cell renal cancer is associated with von Hippel Lindau disease, chromosome 3 translocations, PTEN hamartomatous syndrome and mutations in BAP1, as well as several of the genes encoding the proteins comprising the succinate dehydrogenase complex (SDHB/C/D). Type 1 papillary renal cancers arise in conjunction with germline mutations in MET and type 2 as part of Hereditary Leiomyomatosis and Renal Cell Cancer (FH mutations). Chromophone and oncocytic renal cancers are predominantly associated with Birt Hogg Dubé syndrome. Angiomyolipomas are commonly and their malignant counterpart epitheliod angiomyolipomas rarely are found in patients with Tuberous Sclerosis Complex. The targeted therapeutic options for the renal cancer associated with these diseases are just starting to expand, and are an area of active clinical research. PMID:24359990

  1. Quality of care from the perspective of the cataract patient: QUOTE Cataract Questionnaire.

    NARCIS (Netherlands)

    Nijkamp, M.D.; Sixma, H.J.; Afman, H.; Hiddema, F.; Koopmans, S.A.; Borne, B. van den; Hendrikse, F.; Nuijts, R.M.M.A.

    2002-01-01

    PURPOSE: To examine the potential of a questionnaire (QUOTE Cataract) to measure quality of care from the perspective of cataract patients in quality-assurance or improvement programs. SETTING: Department of Ophthalmology, University Hospital Maastricht, Maastricht, University Hospital Groningen,

  2. Quality of care from the perspective of the cataract patient - QUOTE Cataract Questionnaire

    NARCIS (Netherlands)

    Nijkamp, MD; Sixma, HJ; Afman, H; Hiddema, F; Koopmans, SA; van den Borne, B; Hendrikse, F; Nuijts, RMMA

    2002-01-01

    Purpose: To examine the potential of a questionnaire (QUOTE Cataract) to measure quality of care from the perspective of cataract patients in quality-assurance or improvement programs. Setting. Department of Ophthalmology, University Hospital Maastricht, Maastricht, University Hospital Groningen,

  3. Cataract surgery in the glaucoma patient

    OpenAIRE

    Kung, Jennifer S.; Daniel Y Choi; Cheema, Anjum S.; Kuldev Singh

    2015-01-01

    To summarize the role of cataract surgery in the glaucoma patient, in terms of the effect on intraocular pressure (IOP) as well as diagnostic and therapeutic considerations for those with both conditions. Recent evidence suggests that cataract extraction may produce a significant and sustained IOP reduction in individuals with open-angle glaucoma, ocular hypertension, and angle-closure glaucoma. Cataract removal may improve the practitioner's ability to interpret perimetric testing, and re-es...

  4. Phacoemulsification in posterior polar cataract

    Directory of Open Access Journals (Sweden)

    Servet Cetinkaya

    Full Text Available ABSTRACT Purpose: To evaluate the results and complications of phacoemulsification surgery in eyes with posterior polar cataracts and compare the techniques of viscodissection and hydrodissection. Methods: The medical records of 29 consecutive patients (16 males, 13 females with posterior polar cataracts (44 eyes who had undergone cataract surgery were retrospectively reviewed. Patients were divided into two groups according to the technique used; viscodissection was applied to the experimental group (group 1 and hydrodissection to the control group (group 2. Results: The postoperative best corrected visual acuity (BCVA was 0.19 ± 0.22 logMAR (mean ± standard deviation (range 0.00-0.70 in group 1 and 0.25 ± 0.18 logMAR (range 0.00-0.70 in group 2. Although the mean postoperative BCVA in group 1 was greater than that in group 2, the difference was not statistically significant (p=0.165. The mean postoperative BCVA was significantly greater than the mean preoperative BCVA in both groups (p=0.00. Intraoperatively, posterior capsular rupture occurred during the removal of the cortex in three eyes (13% of group 1 patients, with vitreous loss and anterior vitrectomy in one eye only. In group 2, six eyes (28.5% presented posterior capsular rupture, and anterior vitrectomy was performed because of vitreous loss in three eyes. Although the percentage of posterior capsular rupture was greater in group 2, the difference was not statistically significant (p=0.207. Conclusions: Complications in posterior polar cataract surgeries can be overcome by being careful throughout the surgery and using proper techniques. Viscodissection may be better for avoiding posterior capsular rupture than hydrodissection.

  5. [Ataxias and hereditary spastic paraplegias].

    Science.gov (United States)

    Schüle, R; Schöls, L

    2017-07-01

    Hereditary ataxias and spastic paraplegias are genetic disorders with age-dependent nearly complete penetrance. The mostly monogenetic etiology allows one to establish the diagnosis, study pathogenesis and to develop new causative therapeutic approaches for these diseases. Both the causative genes as well as the clinical presentation overlap considerably between hereditary ataxias and spastic paraplegias. This strongly argues towards a united classification for these two groups of diseases. Next generation sequencing technologies have greatly expanded the number of genes known to be causative for hereditary ataxias and spastic paraplegias and allow simultaneous time- and cost-effective diagnostic testing of > 200 genes. However, repeat expansions and large genomic deletions must be considered separately. Here, we suggest a pragmatic algorithm for genetic testing in hereditary ataxias and spastic paraplegias that we have developed in our specialized outpatient clinics. Detailed phenotyping remains crucial to interpret the multitude of genetic variants discovered by high throughput sequencing techniques. Despite recent technical advances, a substantial proportion of ataxia and spastic paraplegia families are still without a molecular diagnosis. Beside new and so far undetected ataxia and spasticity genes, unusual mutation types including noncoding variants and polygenic inheritance patterns may contribute. Because of these clinical, genetic, and technological challenges, patients with hereditary ataxias and spastic paraplegias should be referred to specialized centers offering research and clinical studies. This will also help to recruit representative patient cohorts for upcoming interventional trials.

  6. Cataract surgery after refractive surgery.

    Science.gov (United States)

    Naseri, Ayman; McLeod, Stephen D

    2010-01-01

    To review recent contributions addressing the challenge of intraocular lens (IOL) calculation in patients undergoing cataract extraction following corneal refractive surgery. Although several articles have provided excellent summaries of IOL selection in patients wherein prerefractive surgery data are available, numerous authors have recently described approaches to attempt more accurate IOL power calculations for patients who present with no reliable clinical information regarding their refractive history. Additionally, results have been reported using the Scheimpflug camera system to measure corneal power in an attempt to resolve the most important potential source of error for IOL determination in these patients. IOL selection in patients undergoing cataract surgery after corneal refractive surgery continues to be a challenging and complex issue despite numerous strategies and formulas described in the literature. Current focus seems to be directed toward approaches that do not require preoperative refractive surgery information. Due to the relative dearth of comparative clinical outcomes data, the optimal solution to this ongoing clinical problem has yet to be determined. Until such data are available, many cataract surgeons compare the results of multiple formulas to assist them in IOL selection for these patients.

  7. [Pupil physiology after cataract surgery].

    Science.gov (United States)

    Möller, D E; Buchholz, I; Huebscher, H J

    2000-04-01

    The goal of a cataract operation is to achieve an optimal outcome, which includes a round and functioning pupil. The goal of this study was to analyze the influence of cataract operations on pupils that appear to be normal on slit-lamp examination postoperatively. A videopupillography was performed on 47 eyes of 47 patients after phacoemulsification without complications in the first eye, and on 12 eyes of 12 patients after phacoemulsification without complications in the second eye. After surgery, the first eyes showed a significantly more constricted pupil compared to the non-operated eye independently of the stage of irritation. After surgery of the second eye, this was only observed under near dark conditions. Even the morphologically normal pupil shows a change in motility postoperatively. We believe that the reason for this is the mechanical manipulation of the iris during cataract operation. During this, the sensitive dilator muscle of the pupil is affected, leading to temporary or permanent changes in pupillary function. The change in motility of the contralateral, non-operated eye cannot be easily explained. The pupil size is important for the visual process and alteration of its function allows an evaluation of the quality of the operation.

  8. Corneal topography in cataract surgery.

    Science.gov (United States)

    Martinez, C E; Klyce, S D

    1996-02-01

    Keratometry and corneal topography remain the most important means of evaluating induced corneal changes after surgery and have comparable sensitivities in the paracentral region of the cornea. However, keratometry gives no information about the peripheral cornea or about asymmetry of the cornea. Videokeratography should be performed after cataract surgery in cases in which best-corrected visual acuity is not adequate and there are no other obvious causes for poor vision to determine whether corneal irregularities are present. The recent literature on corneal topographic evaluation of induced astigmatism after cataract surgery suggests that in general, smaller, temporal incisions result in less astigmatism. Preoperatively, corneal topography can be used in the calculation of intraocular lens power as well as incision planning. Postoperatively, it can be used to detect tight sutures, torsion of the wound, internal wound gape, and irregular astigmatism, as well as to guide suture removal. In the future, corneal topography will become increasingly important in the determination of intraocular lens power in difficult cases such as patients undergoing combined cataract extraction and penetrating keratoplasty as well as patients with a history of radial keratotomy or photorefractive surgery.

  9. Persistent strabismus after cataract extraction

    Directory of Open Access Journals (Sweden)

    Dujić Mirjana P.

    2005-01-01

    Full Text Available Background. Transient ocular misalignment as a complication of parabulbar and peribulbar anesthesia has already been reported in the literature. The aim of our study was to present a case of irreversible iatrogenic vertical strabismus after cataract surgery, which had to be operated on. Methods. Clinical and orthoptic evaluation of a female patient with vertical diplopia after phacoemulsification cataract surgery. Results. One week after the uneventful surgery, a 68-year-old patient complained of a sudden vertical deviation in the operated eye. The patient had not had a history of previous motility disorders. On examination, the patient showed hypertropia in the left eye of 15−20 degrees in primary position. Three and 6 months postoperatively, there was no a spontaneous improvement, while the persistent vertical deviation was 40 prism dioptres. Strabismus surgery was required 1 year after the cataract surgery. Conclusion. Diplopia is a complication of peribulbar anesthesia which could be persistent. The superior and inferior rectus muscle are especially vulnerable. Its occurrence may be technique - related and the incidence increases when hyaluronidase is not available.

  10. Patient satisfaction with cataract surgery

    Directory of Open Access Journals (Sweden)

    Wasfi Ehab I

    2008-10-01

    Full Text Available Abstract Introduction Measuring the patient satisfaction is a very important issue that will help very much in improving the service provided to patients and improve the level of satisfaction. Aim To evaluate patient satisfaction with the cataract surgery service and identify any areas for improvement, determination of patient satisfaction with referral, out-patient consultation, pre-assessment clinic, surgery and post-operative care, also to report patients' comments relating to improvement in service provision. Methodology A retrospective study was undertaken for 150 patients underwent cataract surgery at Barrow General Hospital, UK, the survey sample was by postal questionnaires. We collected our data from the theatre lists for a period of 4 month. Results This study included 150 patients; the response rate was (72% 108 patients, Most patients were referred from their general practitioner 86.1%, 93 (86.1% patients were happy with the time interval from seeing their GP to eye clinic. In the eye out patient department many factors significantly affected the level of patient satisfaction, in general the more information provided for the patient the more the satisfaction. Conclusion Patient satisfaction is on important health outcome old understanding both the domains of satisfaction as well as their relative importance to patients is necessary to improve the overall quality of patient care. Meeting the doctor, presenting all relevant information and giving printed information are very important factors in improving the patient's satisfaction with cataract surgery.

  11. [History of cataract operations in Hungary].

    Science.gov (United States)

    Marsovszky, László

    2013-11-10

    The history of the cataract operations dates back to thousands of years ago. Initially, surgery was carried out using rudimentary operating techniques resulting in the loss of many eyes. Cataract surgery has evolved immersely and now it is a highly refined surgical practice. Evolution of the cataract surgery was closely linked to broadening of anatomical-pathological knowledge and to the development of the instruments applied. Although Daviel performed the first intentional cataract removal in 1747, almost one hundred years passed before the extracapsular cataract extraction method finally replaced the old couching technique. By the middle of the 20th century, with the progression of the operation techniques and instruments, different forms of intracapsular cataract extraction methods became prevalent. Introduction and widespread use of the artificial intraocular lenses from the second half of the 20th century led to the rediscovery and further perfection of the extracapsular cataract extraction technique. Today, phacoemulsification through small incision, along with the foldable intraocular lenses is the gold standard of cataract surgery. The aim of this study is to present the different cataract surgery methods applied throughout the centuries, as well as the difficulties encountered. It discusses pioneering steps of each era, in order to give a closer look at the most frequently performed surgical intervention in ophthalmology.

  12. Hereditary pancreatitis: current perspectives

    Directory of Open Access Journals (Sweden)

    Raphael KL

    2016-07-01

    Full Text Available Kara L Raphael, Field F Willingham Division of Digestive Diseases, Department of Medicine, Emory University School of Medicine, Atlanta, GA, USA Abstract: Hereditary pancreatitis (HP is a rare cause of acute, recurrent acute, and chronic pancreatitis. It may present similarly to other causes of acute and chronic pancreatitis, and often there has been a protracted evaluation prior to the diagnosis of HP. Since it was first described in 1952, multiple genetic defects that affect the action of digestive enzymes in the pancreas have been implicated. The most common mutations involve the PRSS1, CFTR, SPINK1, and CTRC genes. New mutations in these genes and previously unrecognized mutations in other genes are being discovered due to the increasing use of next-generation genomic sequencing. While the inheritance pathways of these genetic mutations may be variable and complex, sometimes involving coinheritance of other mutations, the clinical presentation of patients tends to be similar. Interactions with environmental triggers often play a role. Patients tend to present at an early age (prior to the second decade of life and have a significantly increased risk for the development of pancreatic adenocarcinoma. Patients with HP may develop sequelae of chronic pancreatitis such as strictures and fluid collections as well as exocrine and endocrine insufficiency. Management of patients with HP involves avoidance of environmental triggers, surveillance for pancreatic adenocarcinoma, medical therapy for endocrine and exocrine insufficiency, pain management, and endoscopic or surgical treatment for complications. Care for affected patients should be individualized, with an emphasis on early diagnosis and multidisciplinary involvement to develop a comprehensive treatment strategy. Keywords: pancreatic cancer, chronic pancreatitis, idiopathic pancreatitis, pancreatitis, familial pancreatitis, genetic mutations

  13. Intragenic duplication: a novel mutational mechanism in hereditary pancreatitis

    DEFF Research Database (Denmark)

    Joergensen, Maiken T; Geisz, Andrea; Brusgaard, Klaus

    2011-01-01

    In a hereditary pancreatitis family from Denmark, we identified a novel intragenic duplication of 9 nucleotides in exon-2 of the human cationic trypsinogen (PRSS1) gene (c.63_71dup) which at the amino-acid level resulted in the insertion of 3 amino acids within the activation peptide of cationic...

  14. A Robust Automated Cataract Detection Algorithm Using Diagnostic Opinion Based Parameter Thresholding for Telemedicine Application

    Directory of Open Access Journals (Sweden)

    Shashwat Pathak

    2016-09-01

    Full Text Available This paper proposes and evaluates an algorithm to automatically detect the cataracts from color images in adult human subjects. Currently, methods available for cataract detection are based on the use of either fundus camera or Digital Single-Lens Reflex (DSLR camera; both are very expensive. The main motive behind this work is to develop an inexpensive, robust and convenient algorithm which in conjugation with suitable devices will be able to diagnose the presence of cataract from the true color images of an eye. An algorithm is proposed for cataract screening based on texture features: uniformity, intensity and standard deviation. These features are first computed and mapped with diagnostic opinion by the eye expert to define the basic threshold of screening system and later tested on real subjects in an eye clinic. Finally, a tele-ophthamology model using our proposed system has been suggested, which confirms the telemedicine application of the proposed system.

  15. Pathology of hereditary breast cancer

    OpenAIRE

    van der Groep, Petra; van der Wall, Elsken; van Diest, Paul J.

    2011-01-01

    Background Hereditary breast cancer runs in families where several members in different generations are affected. Most of these breast cancers are caused by mutations in the high penetrance genes BRCA1 and BRCA2 accounting for about 5% of all breast cancers. Other genes that include CHEK2, PTEN, TP53, ATM, STK11/LKB1, CDH1, NBS1, RAD50, BRIP1 and PALB2 have been described to be high or moderate penetrance breast cancer susceptibility genes, all contributing to the hereditary breast cancer spe...

  16. Cataract and barriers to cataract surgery in a US Hispanic population: Proyecto VER.

    Science.gov (United States)

    Broman, Aimee Teo; Hafiz, Gulnar; Muñoz, Beatriz; Rodriguez, Jorge; Snyder, Robert; Klein, Ronald; West, Sheila K

    2005-09-01

    To report the prevalence of visually significant cataract and cataract surgery and to determine demographic and socioeconomic factors that influence use of cataract surgery in a US Hispanic population. Proyecto VER is a population-based study of Hispanic individuals, 40 years or older, living in southern Arizona. Visual acuity was measured monocularly, and a dilated ophthalmic examination was performed to determine lens opacities. Visually significant cataract was defined as severe levels of opacity and acuity worse than 20/40. Risk factors were compared between those who obtained cataract surgery in the past and those having visually significant cataract. A majority of the 4774 participants in this study were of Mexican descent; 2.8% had visually significant cataract and 5.1% had undergone bilateral cataract surgery. Among those currently or previously needing surgery, having medical insurance (odds ratio, 2.88; P<.001) and speaking English (odds ratio, 1.80; P = .04) were significantly associated with having obtained surgery in the past. Visually significant cataract appears to be high among US Hispanic individuals of Mexican descent, as evidenced by rates of cataract and cataract surgery. Language and financial barriers in this population impede access to surgery. Further work to remove these barriers and provide sight restoration is warranted among Hispanic individuals of Mexican descent living in the United States.

  17. Genes and SNPs associated with non-hereditary and hereditary colorectal cancer.

    Science.gov (United States)

    Nassiri, Mohammadreza; Kooshyar, Mohammad Mahdi; Roudbar, Zahra; Mahdavi, Morteza; Doosti, Mohammad

    2013-01-01

    Colorectal cancer is the third most common cancer in both men and women in the world and the second leading cause of cancer-related deaths. The incidence of colorectal cancer has increased in Iran in the past three decades and is now considered as a serious problem for our society. This cancer has two types hereditary and non-hereditary, 80% of cases being the latter. Considering that the relationship between SNPs with diseases is a concern, many researchers believed that they offer valuable markers for identifying genes responsible for susceptibility to common diseases. In some cases, they are direct causes of human disease. One SNP can increase risk of cancer, but when considering the rate of overlap and frequency of DNA repair pathways, it might be expected that SNP alone cannot affect the final result of cancer, although several SNPs together can exert a significant influence. Therefore identification of these SNPs is very important. The most important loci which include mutations are: MLH1, MSH2, PMS2, APC, MUTYH, SMAD7, STK11, XRCC3, DNMT1, MTHFR, Exo1, XRCC1 and VDR. Presence of SNPs in these genes decreases or increases risk of colorectal cancer. In this article we reviewed the Genes and SNPs associated with non-hereditary and hereditary of colorectal cancer that recently were reported from candidate gene y, meta-analysis and GWAS studies. As with other cancers, colorectal cancer is associated with SNPs in gene loci. Generally, by exploring SNPs, it is feasible to predict the risk of developing colorectal cancer and thus establishing proper preventive measures. SNPs of genes associated with colorectal cancer can be used as a marker SNP panel as a potential tool for improving cancer diagnosis and treatment planning.

  18. Cataract Surgery Informed Consent Survey | Omolase | Nigerian ...

    African Journals Online (AJOL)

    To evaluate the importance patients attach to informed consent and the information they are given during counselling for cataract surgery. A total number of sixty one patients who came for cataract surgery during the eye camp in Owo in August, 2006 were randomly selected using simple random sampling and interviewed.

  19. Prevalence of Cataract Blindness in Rural Ethiopia

    African Journals Online (AJOL)

    Bernt Lindtjørn

    Salud Pública 2005;17:387–93. 11. Nano ME, Nano HD, Mugica JM, Silva JC, Montaρa. G, Limburg H. Rapid assessment of visual impairment because of cataract and cataract surgical services in urban Argentina. Ophthalmic Epidemiol. 2006; 13:191-7. 12. Limburg H, Foster A, Gilbert C, G J Johnson1, M. Kyndt , M Myatt.

  20. Survey of Cataract Surgical Techniques in Nigeria

    African Journals Online (AJOL)

    PROF SABE NWOSU

    Survey of Cataract Surgical Techniques in Nigeria. Sebastian N N Nwosu. Guinness Eye Center Onitsha , Nigeria. SUMMARY. Objective: To determine the techniques of cataract surgery as currently being practiced by ophthalmologists in Nigeria. Materials and Methods: A self-administered questionnaire was administered ...

  1. Evaluation of Complications of Extracapsular Cataract Extraction ...

    African Journals Online (AJOL)

    hanumantp

    the cornea and avoidance of posterior capsular rent are some of the challenges of the trainee in mastering ECCE. Stepwise supervised training can help a trainee master these steps while keeping the complications at acceptably low levels. Keywords: Cataract, Cataract extraction, Complications, Developing country, ...

  2. Retrobulbar versus subconjunctival anesthesia for cataract surgery ...

    African Journals Online (AJOL)

    Objectives: To compare the effectiveness, in terms of pain relief and akinesia of retrobulbar and subconjunctival an aesthesia during cataract surgery and also to compare the degree of postoperative ptosis associated with each technique. Materials and Methods: Consecutive adult patients undergoing cataract surgery ...

  3. Retrobulbar versus Subconjunctival Anaesthesia for Cataract Surgery

    African Journals Online (AJOL)

    Aim: To test the efficacy of subconjunctival anaesthesia (SCA) for cataract surgery against the established retrobulbar anaesthesia (RBA). Methods: This was a prospective study of 73 adults (44 males, 29 females) selected for cataract surgery and intraocular lens (IOL) implants under local anaesthesia. Their ages ranged ...

  4. Intracapsular cataract extraction with anterior chamber intraocular ...

    African Journals Online (AJOL)

    Aim: To assess the visual outcome of cataract extraction with ACIOL implantation in a Nigerian hospital. Methods: The visual outcome of 50 eyes of 42 patients aged 40 years and above, out of 212 eyes that underwent intracapsular cataract extraction (ICCE) and anterior chamber intraocular lens (ACIOL) implantation, were ...

  5. Visual Outcome of Cataract Surgery | Ukponmwan | Nigerian ...

    African Journals Online (AJOL)

    Purpose: To assess the visu al ou tcome of cataract su rgery in a tertiary hosp ital in Nigeria. Methods: Three hu nd red and seventy eyes (370) that had cataract su rgery in the op hthalmology d ep artment of University of Benin Teaching Hosp ital (UBTH) from July 2007 to December 2008 were includ ed in the stu d y.

  6. Lutein and cataract: from bench to bedside.

    Science.gov (United States)

    Manayi, Azadeh; Abdollahi, Mohammad; Raman, Thiagarajan; Nabavi, Seyed Fazel; Habtemariam, Solomon; Daglia, Maria; Nabavi, Seyed Mohammad

    2016-10-01

    Cataract is one of the most important leading causes of blindness in the world. Extensive research showed that oxidative stress may play an important role in the initiation and progression of a cataract and other age-related eye diseases. Extra-generation of reactive oxygen and nitrogen species in the eye tissue has been shown as one of the most important risk factors for cataracts and other age-related eye diseases. With respect to this, it can be hypothesized that dietary antioxidants may be useful in the prevention and/or mitigation of cataract. Lutein is an important xanthophyll which is widely found in different vegetables such as spinach, kale and carrots as well as some other foods such as eggs. Lutein is concentrated in the macula and suppresses the oxidative stress in the eye tissues. A plethora of literature has shown that increased lutein consumption has a close correlation with reduction in the incidence of cataract. Despite this general information, there is a negligible number of review articles considering the beneficial effects of lutein on cataracts and age-related eye diseases. The present review is aimed at discussing the role of oxidative stress in the initiation and progression of a cataract and the possible beneficial effects of lutein in maintaining retinal health and fighting cataract. We also provide a perspective on the chemistry, sources, bioavailability and safety of lutein.

  7. Clinical Characteristics of Cataract Patients with Pseudoexfoliation ...

    African Journals Online (AJOL)

    A total of 402 subjects with cataract were examined for the presence of pseudoexfoliation material, type of cataract, intraocular pressure, glaucoma and other factors. The presence of any exfoliation material on the iris, pupil and lens capsule was examined. Data were computed using SPSS version 16.0. Results: Out of the ...

  8. Extracapsular cataract extraction with intraocular lens implantation ...

    African Journals Online (AJOL)

    Cataract is the leading cause of blindness in leprosy patients. Sight restoration to blind leprosy patients prevents them from injuring their anaesthetic limbs. The visual outcome and complications of extracapsular cataract extraction with intraocular lens implant in 42 leprosy and 91 non-leprosy patients were compared.

  9. Pediatric cataract surgery in Madagascar | Randrianotahina ...

    African Journals Online (AJOL)

    Conclusions: In Madagascar, presentation for congenital and developmental cataract is very late, visual outcome poor and follow‑up inadequate. There is an urgent need for a childhood blindness program to effectively deal with pediatric cataract, an avoidable cause of blindness and visual disability in children on the island ...

  10. Congenital aniridia with cataract: case series

    OpenAIRE

    Wang, Jin Da; Zhang, Jing Shang; Xiong, Ying; Li, Jing; Li, Xiao Xia; Liu, Xue; Zhao, Jing; Tsai, Frank F.; Vishal, Jhanji; You, Qi Sheng; Huang, Yao; Wan, Xiu Hua

    2017-01-01

    Background This study evaluates patients with congenital aniridia and cataract who underwent phacoemulsification, capsular tension ring placement, and foldable intraocular lens implantation. Methods In this prospective case series, 10 patients (17 eyes) underwent cataract surgery via a 3.2?mm clear corneal incision. A continuous circular capsulorhexis with

  11. Immunophenotyping of hereditary breast cancer

    NARCIS (Netherlands)

    van der Groep, P.|info:eu-repo/dai/nl/304810789

    2009-01-01

    Hereditary breast cancer runs in families where several family members in different generations are affected. Most of these breast cancers are caused by mutations in the high penetrance genes BRCA1 and BRCA2 which account for about 5% of all breast cancers. However, mutations in BRCA1 and BRCA2 may

  12. Drug therapy for hereditary cancers

    Directory of Open Access Journals (Sweden)

    Imyanitov Evgeny N

    2011-08-01

    Full Text Available Abstract Tumors arising in patients with hereditary cancer syndromes may have distinct drug sensitivity as compared to their sporadic counterparts. Breast and ovarian neoplasms from BRCA1 or BRCA2 mutation carriers are characterized by deficient homologous recombination (HR of DNA, that makes them particularly sensitive to platinum compounds or inhibitors of poly (ADP-ribose polymerase (PARP. Outstandingly durable complete responses to high dose chemotherapy have been observed in several cases of BRCA-related metastatic breast cancer (BC. Multiple lines of evidence indicate that women with BRCA1-related BC may derive less benefit from taxane-based treatment than other categories of BC patients. There is virtually no reports directly assessing drug response in hereditary colorectal cancer (CRC patients; studies involving non-selected (i.e., both sporadic and hereditary CRC with high-level microsatellite instability (MSI-H suggest therapeutic advantage of irinotecan. Celecoxib has been approved for the treatment of familial adenomatous polyposis (FAP. Hereditary medullary thyroid cancers (MTC have been shown to be highly responsive to a multitargeted tyrosine kinase inhibitor vandetanib, which exerts specific activity towards mutated RET receptor. Given the rapidly improving accessibility of DNA analysis, it is foreseen that the potential predictive value of cancer-associated germ-line mutations will be increasingly considered in the future studies.

  13. Genetics Home Reference: hereditary hemochromatosis

    Science.gov (United States)

    ... several genes, including HAMP , HFE , HFE2 , SLC40A1 , and TFR2 , can cause hereditary hemochromatosis . Type 1 hemochromatosis results ... the HFE2 or HAMP gene. Mutations in the TFR2 gene cause type 3 hemochromatosis, and mutations in ...

  14. Cataract surgery after Descemet stripping endothelial keratoplasty

    Directory of Open Access Journals (Sweden)

    Sunita Chaurasia

    2012-01-01

    Full Text Available Management of endothelial dysfunction in phakic patients is sometimes a dilemma for corneal surgeons. Phakic patients with visually significant cataract and endothelial dysfunction are preferably managed by performing combined cataract surgery with endothelial keratoplasty. However, combined surgery may be deferred in eyes with early incipient cataract, younger age and where anterior chamber is poorly visualized. As cataract formation may be accelerated after endothelial keratoplasty, these eyes may need cataract surgery subsequently. Surgical intervention in eyes with endothelial keratoplasty is of concern as this may affect the graft adversely and threaten graft survival. In this report, we describe the intraoperative surgical details and postoperative clinical course of a patient who underwent phacoemulsification with intraocular lens implantation after Descemet stripping automated endothelial keratoplasty (DSAEK.

  15. Genetics of Hereditary Angioedema Revisited.

    Science.gov (United States)

    Germenis, Anastasios E; Speletas, Matthaios

    2016-10-01

    Contemporary genetic research has provided evidences that angioedema represents a diverse family of disorders related to kinin metabolism, with a much greater genetic complexity than was initially considered. Convincing data have also recently been published indicating that the clinical heterogeneity of hereditary angioedema due to C1 inhibitor deficiency (classified as C1-INH-HAE) could be attributed at least in part, either to the type of SERPING1 mutations or to mutations in genes encoding for enzymes involved in the metabolism and function of bradykinin. Alterations detected in at least one more gene (F12) are nowadays considered responsible for 25 % of cases of hereditary angioedema with normal C1-INH (type III hereditary angioedema (HAE), nlC1-INH-HAE). Interesting data derived from genetic approaches of non-hereditary angioedemas indicate that other immune pathways might be implicated in the pathogenesis of HAE. More than 125 years after the recognition of the hereditary nature of HAE by Osler, the heterogeneity of clinical expressions, the genetics of this disorder, and the genotype-phenotype relationships, still presents a challenge that will be discussed in this review. Large scale, in-depth genetic studies are expected not only to answer these emerging questions but also to further elucidate many of the unmet aspects of angioedema pathogenesis. Uncovering genetic biomarkers affecting the severity of the disease and/or the effectiveness of the various treatment modalities might lead to the prevention of attacks and the optimization of C1-INH-HAE management that is expected to provide a valuable benefit to the sufferers of angioedema.

  16. Molecular Inflammation in the Contralateral Eye After Cataract Surgery in the First Eye.

    Science.gov (United States)

    Zhu, Xiang-Jia; Wolff, Don; Zhang, Ke-Ke; He, Wen-Wen; Sun, Xing-Huai; Lu, Yi; Zhou, Peng

    2015-08-01

    The purpose of this study was to assess the inflammatory status of the aqueous humor in the fellow eye after uneventful cataract surgery in the first eye. At the screening stage, aqueous humor samples from 15 first-eye and 15 second-eye cataract patients were collected just before cataract surgery and assayed using human cytokine antibody array. Screened cytokines were then verified using a suspension array system with aqueous humor samples obtained from 35 first-eye and 36 second-eye cataract patients. The cytokine antibody array revealed that interleukin-1 receptor antagonist (Il-1ra) and macrophage inflammatory protein (MIP)-1a and MIP-1b were expressed at high levels in first-eye patients and were lower in second-eye patients, whereas opposite trends were found for monocyte chemoattractant protein 1 (MCP-1) and for regulated on activation, normal T expressed and secreted (RANTES) (all, P eye patients than in that of first-eye patients (P = 0.0067, Student's t-test). This study revealed that expression of MCP-1, a pain-related inflammatory chemokine, was significantly increased in aqueous humor in the contralateral eye after first-eye cataract surgery. This suggests there may be a sympathetic ophthalmic type uveitis in the contralateral eye after first-eye cataract surgery and that may help to explain why second-eye phacoemulsification is often more painful. (ClinicalTrials.gov number, NCT01824927.)

  17. Review: Femtosecond Laser Assisted Cataract Surgery (FLACS): An ...

    African Journals Online (AJOL)

    Age-related cataract is one of the most important causes of visual impairment, and cataract surgery is one of the commonest surgeries performed worldwide. Femtosecond laser assisted cataract surgery (FLACS) is a new and promising technology in the arena of cataract operations. Femtosecond lasers (FSL) are used in ...

  18. Evaluation of the Community Cataract Surgical Services of a ...

    African Journals Online (AJOL)

    Background: Cataract is the leading cause of blindness in the world. An efficient and effective cataract surgical service is necessary to reduce the backlog of cataract blindness in the community. This study aims to determine the cataract surgical coverage among individuals aged 50 years and above residing in Esie and ...

  19. Cataract Surgical Outreach in a Tertiary Hospital in Nigeria: An ...

    African Journals Online (AJOL)

    Background: Cataract remains the main cause of reversible blindness in Nigeria. However, access to cataract surgery has been hampered by lack of funds and a dearth of eye care professionals. Surgical outreaches have been used as one of the tools to reduce the cataract backlog. Aim: To review a free cataract surgical ...

  20. Quality of care from the perspective of the cataract patient: the reliability and validity of the QUOTE-Cataract.

    NARCIS (Netherlands)

    Nijkamp, M.D.; Sixma, H.J.M.; Afman, H.; Hiddema, F.; Koopmans, S.A.; Borne, B. van den

    2002-01-01

    Background/aims: To assess reliability and validity of the QUOTE-Cataract, a questionnaire that measures the quality of care from the perspective of cataract patients. Methods: The QUOTE-Cataract was tested in a multicentre study among 540 cataract patients in three different hospitals. Reliability

  1. Quality of care from the perspective of the cataract patient : the reliability and validity of the QUOTE-Cataract

    NARCIS (Netherlands)

    Nijkamp, MD; Sixma, HJM; Afman, H; Hiddema, F; Koopmans, SA; van den Borne, B; Hendrikse, F; Nuijts, RMMA

    Background/aims: To assess reliability and validity of the QUOTE-cataract, a questionnaire that measures the quality of care from the perspective of cataract patients. Methods: The QUOTE-cataract was tested in a multicentre study among 540 cataract patients in three different hospitals. Reliability

  2. [Application of whole exome sequencing in the diagnosis of hereditary neurological diseases].

    Science.gov (United States)

    Ilinsky, V V; Korneeva, V A; Shatalov, P A

    2015-01-01

    Whole Exome Sequencing (WES) is a promising method in human genetics. Because the majority of pathogenic mutations that lead to the development of diseases are localized in exons and splice sites, WES could become a major tool for the diagnosis of diseases with a complex hereditary nature. This tool appears to be particularly useful for hereditary neurological diseases, such as autism spectrum disorders, Charcot-Marie-Tooth disease and others. In our review, we discuss the clinical application of WES, with special emphasis on the diagnosis of hereditary neurological diseases.

  3. Genetic and Dietary Factors Influencing the Progression of Nuclear Cataract

    OpenAIRE

    Yonova-Doing, Ekaterina; Forkin, Zoe A.; Hysi, Pirro G.; Williams, Katie M.; Spector, Tim D.; Clare E Gilbert; Hammond, Christopher J.

    2016-01-01

    PURPOSE: To determine the heritability of nuclear cataract progression and to explore prospectively the effect of dietary micronutrients on the progression of nuclear cataract.DESIGN: Prospective cohort study.PARTICIPANTS: Cross-sectional nuclear cataract and dietary measurements were available for 2054 white female twins from the TwinsUK cohort. Follow-up cataract measurements were available for 324 of the twins (151 monozygotic and 173 dizygotic twins).METHODS: Nuclear cataract was measured...

  4. Working with patients to optimise cataract outcomes

    Directory of Open Access Journals (Sweden)

    Nick Astbury

    2016-10-01

    Full Text Available One of the delights of ophthalmology is to witness the joy on the face of a patient with cataract when the dressing is taken off and sight has been restored. Unfortunately, for some patients, the result does not live up to their expectations. Despite cataract surgery being one of the most successful surgical interventions available, there is evidence that the visual outcome of cataract surgery in sub-Saharan Africa is not always good (defined as a VA of 6/18 or better. The proportion of good outcomes range from only 23% up to 70%, failing to reach the WHO target of 85% or better.

  5. Congenital aniridia with cataract: case series.

    Science.gov (United States)

    Wang, Jin Da; Zhang, Jing Shang; Xiong, Ying; Li, Jing; Li, Xiao Xia; Liu, Xue; Zhao, Jing; Tsai, Frank F; Vishal, Jhanji; You, Qi Sheng; Huang, Yao; Wan, Xiu Hua

    2017-07-04

    This study evaluates patients with congenital aniridia and cataract who underwent phacoemulsification, capsular tension ring placement, and foldable intraocular lens implantation. In this prospective case series, 10 patients (17 eyes) underwent cataract surgery via a 3.2 mm clear corneal incision. A continuous circular capsulorhexis with cataract by phacoemulsification, posterior chamber foldable lens implantation, capsular tension ring placement was safe and effective. Use of colored contact lenses in the postoperative period can reduce photophobic symptoms in this group of patients. ChiCTR-OOC-17011638 (retrospectively registered at 12,June,2017).

  6. Managing the posterior polar cataract: An update

    Directory of Open Access Journals (Sweden)

    Abhay R Vasavada

    2017-01-01

    Full Text Available Posterior polar cataracts (PPC have always been a challenge for cataract surgeons due to their inherently higher propensity for posterior capsule rupture. Over the years, several technical modifications have been suggested to enhance safety and reduce posterior capsule rupture rates in these polar cataracts. This review article tries to present the various techniques and strategies to published in literature to manage PPCs. It also discusses pearls for making surgery more reproducible and consistent, as well as the role of newer diagnostic and surgical technology based on the published literature on the subject.

  7. Sutureless Cataract Surgery: Principles and Steps

    Directory of Open Access Journals (Sweden)

    John Sandford-Smith

    2003-01-01

    Full Text Available Introduction. Cataracts cause about 50% of world blindness. There is little likelihood of effective prevention becoming available in the next few years and so the only treatment will remain surgical. For many of the other major causes of world blindness, like trachoma, xerophthalmia and onchocerciasis, the remedy is community-based, not hospital-based, and requires prevention rather than treatment. The prevalence of blinding cataract will only increase as people live longer, so cataract will continue to be, by far, the most important treatable cause of blindness.

  8. Syringomyelia in hereditary multiple exostosis.

    Science.gov (United States)

    Legare, Janet M; Modaff, Peggy; Iskandar, Bermans J; Pauli, Richard M

    2016-11-01

    We describe five children with Hereditary Multiple Exostosis (HME) who also had syringomyelia. Of these, four had a tethered cord/fibrolipoma. No spinal osteochondromas were found in these patients. All had antecedent neurological signs or symptoms that prompted spinal imaging with MRI. Of all patients with HME seen in the Midwest Regional Bone Dysplasia Clinic from 1982 to present, 44% (17/39) of patients had signs or symptoms concerning for possible cord-related neurological findings. However, only 10 of 39 had spinal imaging. Assuming that all individuals with syringomyelia were identified, then 5/39 (13%) were in that way affected. This, of course, is a minimal estimate given that many were not imaged. The incidence of syringomyelia appears to be increased in this population, and seems to be unrelated to spinal osteochondromas. A low threshold for obtaining spinal MRI in patients with Hereditary Multiple Exostosis seems rational. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  9. New treatments of hereditary blindness

    DEFF Research Database (Denmark)

    Bertelsen, Mette; Rosenberg, Thomas; Larsen, Michael

    2013-01-01

    Ongoing clinical trials are targeting several previously intractable hereditary causes of blindness of congenital, childhood or early adulthood onset, mainly in the optic nerve and retina. The intended stage of initiation of the new therapeutic approaches ranges from neonatal life and a structura......Ongoing clinical trials are targeting several previously intractable hereditary causes of blindness of congenital, childhood or early adulthood onset, mainly in the optic nerve and retina. The intended stage of initiation of the new therapeutic approaches ranges from neonatal life...... and a structurally intact retinal tissue to adult life with a complete loss of photoreceptors. It must be assumed that some of the trials will succeed in producing new therapies and action must be taken to refine and accelerate diagnostics and to preserve therapeutic potential in blind people....

  10. Hereditary aspects of prostate cancer.

    OpenAIRE

    McLellan, D. L.; Norman, R. W.

    1995-01-01

    OBJECTIVE: To review current literature on the hereditary aspects of prostate cancer and to evaluate the importance of family history in history taking and screening for prostate cancer. DATA SOURCES: MEDLINE was searched for articles in English or French published between Jan. 1, 1956, and Oct. 31, 1994, with the use of MeSH headings "prostatic neoplasms," "genetics" and "chromosomes." Additional references were selected from the bibliographies of articles found during the search. STUDY SELE...

  11. [Hereditary carcinoma: pathogenesis and diagnosis].

    Science.gov (United States)

    Jungck, M

    2000-01-01

    Effective prevention of cancer in patients with a hereditary disposition to malignant tumours was made possible by intensive prevention programs and molecular diagnosis. Taken hereditary non-polyposis colorectal cancer (HNPCC) as an example this article deals with the pathogenesis and molecular diagnosis in hereditary dispositions to cancer. HNPCC is inherited in an autosomal-dominant fashion and caused by germline mutations in genes responsible for detection an removal of DNA-basepair-mismatches (DNA-mismatch-repair-genes). The error rate in DNA replication is reduced thousandfold by these genes. A defective DNA-mismatch-repair results in tumours if the increased mutation rate causes alterations of tumour-suppressor- or oncogenes. HNPCC patients develop colorectal cancer but also tumours of the renal pelvis, the ureter, the small bowel, the endometrium and less often in other organs. The clinical presentation of these tumours may be characteristic, the clinical diagnosis may be guided by different clinical criteria catalogues. The suspicion is proven by the identification of a germline mutation in DNA-mismatch-repair-genes. This laborious diagnostic procedure is often preceded by prescreening procedures as the detection of microsatellite instability or immunohistochemical tests. Once the germline mutation is identified in a affected family member, the first degree relatives may be tested for this mutation. If they have inherited the mutation, they harbour a extremely high risk for developing cancer and therefore may be included in prevention programs. This so called predictive testing must be preceded by genetic counseling.

  12. Corneal astigmatism following cataract extraction.

    Science.gov (United States)

    Wishart, M S; Wishart, P K; Gregor, Z J

    1986-01-01

    The changes in corneal curvature in the first six months after cataract extraction were studied by performing sequential keratometry on a group of 57 patients. 8/0 Virgin silk interrupted sutures were used for the closure of corneoscleral incisions, and 10/0 monofilament tied in double running (bootlace) or single running (continuous) fashion was used for corneal wound closure. A high degree of with-the-rule astigmatism was evident in all patients two weeks postoperatively, but thereafter the character of the astigmatism produced by 8/0 virgin silk and 10/0 monofilament closure was quite different: in the 8/0 virgin silk group there was an early and pronounced shift in the axis of astigmatism to against-the-rule, whereas in the 10/0 monofilament group there was little further change in the astigmatism unless the sutures were removed. Wound compression and wound gape as factors responsible for these changes are discussed. PMID:3539177

  13. Cataract surgical skill assessment tools.

    Science.gov (United States)

    Puri, Sidharth; Sikder, Shameema

    2014-04-01

    After publication of the Accreditation Council for Graduate Medical Education's required competencies for residency training programs, ophthalmology training programs began developing objective assessments to measure resident surgical skill. The application of these evaluation tools represents a move toward standardization in the resident educational process. This review of the assessment tools found that the evaluation rubrics for cataract surgery vary in their level of reliability and validity. Currently, variations in reliability and validity are the only measure of true differences in the evaluation rubrics. Future studies will determine which of the assessment tools is the most practical and efficient for resident training. Neither author has a financial or proprietary interest in any material or method mentioned. Copyright © 2014 ASCRS and ESCRS. Published by Elsevier Inc. All rights reserved.

  14. [Infantile cataract and surgical management].

    Science.gov (United States)

    Milazzo, S; Turut, P; Brémond-Gignac, D

    2011-03-01

    The cataract or opacification of the lens raises, in the child, two problems: of clinical diagnosis but especially of action to be taken therapeutic in particular surgical in front of a juvenille lens. This leads to a step and a therapeutic strategy, which must, individually, weigh the advantages and the disadvantages of the surgery. It is a frequent cause of visual handicap in the child. In the event of unilaterality, the major risks are the amblyopia and the aniseiconia. The elements to be analyzed are linked or the bilaterality, the type and the importance of opacity, local or general associated malformations, precocity diagnoses, and with regard to the treatment, the potential surgical complications, the quality of the optical correction, the postoperative assumption of responsibility and the cooperation of the parents. In all the cases, it will always be necessary to treat the functional part of the amblyopia. Copyright © 2011. Published by Elsevier Masson SAS.

  15. [Hereditary porphyrias and heme related disorders].

    Science.gov (United States)

    Puy, Hervé; Gouya, Laurent; Deybach, Jean-charles

    2014-06-01

    Hereditary porphyrias comprise a group of eight metabolic disorders of the haem biosynthesis pathway, characterised by acute neurovisceral symptoms and/or skin lesions. Each porphyria is caused by abnormal functioning of a particular enzymatic step, resulting in specific accumulation of heme precursors. Seven porphyrias are due to a partial enzyme deficiency, while a gain-of-function mechanism has recently been identify in a novel porphyria. Acute porphyrias present with severe abdominal pain, nausea, constipation and confusion, and are sometimes complicated by seizures and severe neurological disorders, which may be life-threatening. Cutaneous porphyrias can also be present, with either acute painful photosensitivity or skin fragility and blisters. Rare recessive porphyrias usually manifest in early childhood with either severe chronic neurological symptoms or chronic haemolysis and severe cutaneous photosensitivity. Porphyrias are still under-diagnosed, but recent advances in the pathogenesis and genetics of human porphyrias are leading to better care of these patients and their families.

  16. Idiopathic Thrombocytopenic Purpura Misdiagnosed as Hereditary Angioedema

    DEFF Research Database (Denmark)

    Andersen, Michelle Fog; Bygum, Anette

    2015-01-01

    Hereditary angioedema is a rare, but potentially life-threatening genetic disorder that results from an autosomal dominant trait. It is characterized by acute, recurrent attacks of severe local edema, most commonly affecting the skin and mucosa. Swelling in hereditary angioedema patients does how...... of hereditary angioedema. The case illustrates how clinicians can have difficulties in handling patients with rare diseases, especially in the emergency care setting....

  17. Oncologic Management of Hereditary Colorectal Cancer

    OpenAIRE

    Yacoub, George; Nagalla, Srikanth; Aklilu, Mebea

    2012-01-01

    Colorectal cancer (CRC) is the second most common cancer in females and the third most common cancer diagnosed in males. Familial CRC comprises ~20 to 30% of all CRC cases. Lynch syndrome (LS), previously called hereditary nonpolyposis CRC (HNPCC), is the most common of the hereditary CRC syndromes. In this review, the oncological management of hereditary colorectal cancer from the medical oncologist perspective is discussed with special emphasis on Lynch syndrome. Lynch syndrome is character...

  18. Recessive Dystrophic Epidermolysis Bullosa with Congenital Cataract

    Directory of Open Access Journals (Sweden)

    S M Sharmughan Pillai

    1988-01-01

    Full Text Available Case _ having recessive dystrophic epidermolysis bullosa with severe blistering,scarring, inilia, mucosal ulcerations, corneal involvement, teeth anomalies and deformities of hands and feet had the unusual feature of congenital cortical cataract.

  19. Genetics Home Reference: hypomyelination and congenital cataract

    Science.gov (United States)

    ... fibers and promotes the rapid transmission of nerve impulses. Hypomyelination and congenital cataract is caused by a reduced ability to form myelin (hypomyelination). Additionally, people with this disorder are typically born with a clouding of the ...

  20. Intraocular lens employed for cataract surgery

    Science.gov (United States)

    Roszkowska, A. M.; Torrisi, L.

    2014-04-01

    The aim of this paper is to illustrate the techniques of cataract surgery with implantation of intraocular lenses and some physical properties of the used materials. The new technology, coupled with extensive experience and the studied cases, permits to increase the standardization and accuracy of the engravings, by reducing the use and handling of surgical instruments inside the eye. At present it is possible to replace the cataract with crystalline lenses based on biopolymers such as PMMA, silicone, acrylic hydrophilic and hydrophobic acrylic. These materials are increasingly able to replace the natural lens and to ensure the fully functional of the eye. The role of femtosecond lasers in cataract surgery, to assist or replace several aspects of the manual cataract surgery, are discussed.

  1. Histologic changes in selenite cortical cataract.

    Science.gov (United States)

    Anderson, R S; Trune, D R; Shearer, T R

    1988-09-01

    Massive cortical cataract was produced 15-30 days after a single injection of an overdose of sodium selenite into 14-day-old rats. Most of the cortical cataract appeared to be due to extensive liquefaction of cortical fibers. Water influx, following initial damage to the epithelium by selenium, and action of lens proteases were probable mechanisms for the extensive liquefaction. Remarkably, selenite cortical cataract spontaneously cleared after several months, restoring essentially normal cells to the epithelium and outer and mid-cortex. Major mechanisms for clearing probably involved: (1) removal of damaged proteins from the lens by extensive proteolysis; and (2) replacement of fibers by resumption of normal fibergenesis. The data emphasized the remarkable reparative potential of the lens, and indicated the usefulness of the selenite cortical cataract as a model to study such processes.

  2. [Ocular toxoplasmosis and consecutive complicated cataract].

    Science.gov (United States)

    Corbu, Cătălina; Creţu, Carmen; Predoi, Daniela; Tatu, Mihaela

    2002-01-01

    The paper reports three clinical cases which have in common two elements: ocular toxoplasmosis and consecutive complicative cataract, the method of treatment, the evolution and the recovery visual acuity.

  3. Cataract: A major secondary complication of diabetes, its epidemiology and an overview on major medicinal plants screened for anticataract activity

    Directory of Open Access Journals (Sweden)

    Patel DK

    2011-12-01

    Full Text Available Cataract is a visual impairment caused due to opacification or optical dysfunction of crystallin lens affecting more than 17 million people around the world. Even though the incidences of cataract are increasing day by day among the elderly persons but, still except surgery no other ways of treatment have been successfully developed so far. Thus, the aim of writing the present review is to provide an insight over the pathophysiological and etiological aspects of cataract along with discussing the remedies available for the disorder. The review also describes different experimental models with their relevant mechanism and significance such as galactose-induced, naphthalene-induced and selenite-induced cataract models which are mainly used for evaluating the anticataract activity of a particular drug (mainly of natural origin. The review includes list of plants and their phytoconstituents which have been so far evaluated pharmacologicaly for the treatment of cataract. From the survey, it was confirmed that the antioxidant property of plants phytoconstituents are basically responsible for their effective anticataract activity. Thus, the valuable information provided in the present review will help researches in developing an alternative method rather than surgery for the treatment of cataract which will minimize the rate of blindness due to cataract thus, benefiting and extending protective aspects of eyes, an integral part of human body.

  4. Cost-utility analysis of Ruconest® (conestat alfa) compared to Berinert® P (human C1 esterase inhibitor) in the treatment of acute, life-threatening angioedema attacks in patients with hereditary angioedema

    Science.gov (United States)

    Holko, Przemysław; Paszulewicz, Anna

    2013-01-01

    Introduction Administration of human C1 esterase inhibitor (Berinert® P) from target import is the most widespread treatment strategy for patients with hereditary angioedema (HAE). However, a therapeutic health program including Ruconest® (conestat alfa) could shorten a patient's expectancy for a life-saving treatment. Aim To evaluate the cost-utility of Ruconest® (conestat alfa) financed from public funds within the newly introduced therapeutic health program compared with Berinert® P (human C1 esterase inhibitor) in the treatment of acute angioedema attacks in adults with HAE. Material and methods The cost-utility analysis from the Polish healthcare payer's perspective was performed for 1 year (2012). The costs and health outcomes were simulated for three pairs of eligible HAE patient groups (active treatment and corresponding placebo). The incremental costs of each intervention compared with placebo were listed together (direct or indirect comparisons between options were impossible due to limited clinical data available). Results The incremental cost-utility ratios (ICURs) for the evaluated interventions compared with placebo were as follows: EUR 15,226 per QALY (Ruconest®) and EUR 27,786 per QALY (Berinert® P). The probability of cost-utility (ICUR < EUR 24,279 per QALY) assessed for Ruconest® administered in the case of acute angioedema attack was 61% and 41% for Berinert® P. Conclusions The administration of Ruconest® in acute life-threatening angioedema attacks is economically justified from the Polish healthcare payer's perspective, results in lower costs and is characterized by higher cost-utility probability compared with Berinert® P. PMID:24278067

  5. Genetics Home Reference: hereditary multiple osteochondromas

    Science.gov (United States)

    ... Health Topic: Benign Tumors Health Topic: Bone Diseases Genetic and Rare Diseases Information Center (1 link) Hereditary multiple osteochondromas Educational Resources (6 links) Cleveland Clinic: ...

  6. Genetics Home Reference: hereditary hemorrhagic telangiectasia

    Science.gov (United States)

    ... Osler-Weber-Rendu syndrome Health Topic: Arteriovenous Malformations Genetic and Rare Diseases Information Center (1 link) Hereditary hemorrhagic telangiectasia Additional NIH Resources (1 link) National ...

  7. SEOM clinical guidelines for hereditary cancer.

    Science.gov (United States)

    Graña, Begoña; Lastra, Enrique; Llort, Gemma; Brunet, Joan; Isla, Dolores

    2011-08-01

    Research in genetics has facilitated the identification of highly penetrant genes responsible for a large number of diseases. In the oncology field, genetic counselling and gene testing are focused on the two most common syndromes in familial cancer: hereditary breast and ovarian cancer syndrome (HBOC) and hereditary non-polyposis colorectal cancer or Lynch syndrome (LS). The objective of this guideline in hereditary cancer is to summarise the current state of knowledge and make recommendations in the areas of diagnosis, prevention and treatment of hereditary cancer.

  8. Selenium-induced cataract--a correlation of dry mass content and light scattering.

    Science.gov (United States)

    Palmquist, B M; Fagerholm, P; Landau, I

    1986-01-01

    Selenium-induced cataracts in young rats were used to compare light scattering and dry mass concentration along the lens axis. Selenium-treated rats and control rats were examined 1, 2, 4 and 6 days after subcutaneous injection of selenium or 0.9% NaCl. The development of nuclear cataract was followed with a Scheimpflug slit-lamp camera. Light-scattering was determined by densitometry of the negatives taken by the Scheimpflug camera. Dry mass concentration was determined by quantitative microradiography of the extracted lenses. Increasing light scatter was seen from day 2 to day 6. The dry mass concentration, however, was not changed until day 6. Two distinct zones were found surrounding the center of the nucleus, one with increased and one with decreased dry mass. The rapid changes in dry mass concentration were probably caused by shifts in water distribution within the lens. Similar zones of hydration have also been found in human senile nuclear cataract. Selenium-induced cataract in the rat is discussed in relation to human nuclear cataract.

  9. Cosmic Radiation and Cataracts in Airline Pilots

    Science.gov (United States)

    Rafnsson, V.; Olafsdottir, E.; Hrafnkelsson, J.; de Angelis, G.; Sasaki, H.; Arnarson, A.; Jonasson, F.

    Nuclear cataracts have been associated with ionising radiation exposure in previous studies. A population based case-control study on airline pilots has been performed to investigate whether employment as a commercial pilot and consequent exposure to cosmic radiation were associated to lens opacification, when adjusted for known risk factors for cataracts. Cases of opacification of the ocular lens were found in surveys among pilots and a random sample of the Icelandic population. Altogether 445 male subjects underwent a detailed eye examination and answered a questionnaire. Information from the airline company on the 79 pilots employment time, annual hours flown per aircraft type, the timetables and the flight profiles made calculation of individual cumulated radiation dose (mSv) possible. Lens opacification were classified and graded according to WHO simplified cataracts grading system using slit lamp. The odds ratio from logistic regression of nuclear cataracts risk among cases and controls was 3.02 (95% CI 1.44 to 6.35) for pilots compared with non-pilots, adjusted for age, smoking and sunbathing habits, whereas that of cortical cataracts risk among cases and controls was lower than unity (non significant) for pilots compared with non-pilots in a logistic regression analysis adjusted for same factors. Length of employment as a pilot and cumulated radiation dose (mSv) were significantly related to the risk of nuclear cataracts. So the association between radiation exposure of pilots and the risk of nuclear cataracts, adjusted for age, smoking and sunbathing habits, indicates that cosmic radiation may be cause of nuclear cataract among commercial pilots.

  10. Serum antioxidant vitamins and risk of cataract.

    Science.gov (United States)

    Knekt, P; Heliövaara, M; Rissanen, A; Aromaa, A; Aaran, R K

    1992-12-05

    To investigate serum concentrations of alpha tocopherol, beta carotene, retinol, and selenium for their prediction of end stage cataract. A case-control study, nested within a cohort study, based on the linkage of records of subjects aged 40-83 from a health survey with those from the national Finnish hospital discharge register. 47 patients admitted to ophthalmological wards for senile cataract over 15 years and two controls per patient individually matched for sex, age, and municipality. Concentration of serum micronutrients, development of cataract according to whether operation was performed. Low serum concentrations of antioxidant vitamins predicted the development of senile cataract, the odds ratio between the lowest third and the two higher thirds of the distribution of serum concentrations of alpha tocopherol and beta carotene being 1.9 (95% confidence interval 0.9 to 4.1) and 1.7 (0.8 to 3.8), respectively. Patients with both alpha tocopherol and beta carotene concentrations in the lowest third had an odds ratio of 2.6 (1.0 to 6.8) of cataract compared with subjects in the top two thirds. The associations were strengthened by adjustment for potential confounding factors such as occupation, smoking, blood pressure, serum cholesterol concentration, body mass index, and diabetes. No association was found between the serum concentrations of selenium, retinol, and retinol binding protein and the risk of cataract. Low serum concentrations of the antioxidant vitamins alpha tocopherol and beta carotene are risk factors for end stage senile cataract. Controlled trials of the role of antioxidant vitamins in cataract prevention are therefore warranted.

  11. MicroRNAs: new players in cataract

    OpenAIRE

    Yu, Xin; Zheng, Heyi; Chan, Matthew TV; Wu, William Ka Kei

    2017-01-01

    Cataract is the most common cause of blindness worldwide. Multiple factors such as aging, eye injury, diabetes mellitus, ultraviolet exposure, drug use and other ocular diseases are etiologically linked to cataractogenesis. Due to a rapid increase in aging population, age-related cataract has become the leading cause of blindness. Therefore, it is urgent to understand the molecular mechanism underlying cataractogenesis. MicroRNAs (miRNAs) are a group of endogenous, small noncoding RNAs that r...

  12. Role of detection of microsatellite instability in Chinese with hereditary nonpolyposis colorectal cancer or ordinary hereditary colorectal cancer

    OpenAIRE

    Liu, Wen-Zhi; Jin, Feng; ZHANG, ZHEN-HAI; Wang, Shu-Bao

    2006-01-01

    AIM: To detect microsatellite instability (MSI) in patients with hereditary nonpolyposis colorectal cancer or ordinary hereditary colorectal cancer and to provide criteria for screening the kindreds with hereditary nonpolyposis colorectal cancer at molecular level.

  13. Cation and water transport during maturation of cortical cataract

    Directory of Open Access Journals (Sweden)

    Khurana A

    1988-01-01

    Full Text Available Water, electrolyte and free amino acid content of the crystalline lens were estimated in patients with nuclear cataract and in immature, mature and hypermature cortical cataract groups. Wet weight/dry weight and sodium/potassium ratios were calculated. Sodium, potassium ratio was significantly higher in immature cortical cataract when compared with the nuclear cataract. With maturation of the cortical cataract, the lens was found to be more hydrated and there was accumulation of sodium. However, free amino acid content of the lens decreased. A hypothesis has been proposed for alterations in the active transport pump of the crystalline lens during the maturation of the cortical cataract.

  14. Comprehensive Mutational Screening in a Cohort of Danish Families with Hereditary Congenital Cataract

    National Research Council Canada - National Science Library

    Hansen, Lars; Mikkelsen, Annemette; Nurnberg, Peter; Nurnberg, Gudrun; Anjum, Iram; Eiberg, Hans; Rosenberg, Thomas

    2009-01-01

    ..., University of Copenhagen, Copenhagen, Denmark; the 3 Cologne Center for Genomics (CCG) and Institute for Genetics, and the 4 Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD...

  15. Association of celiac disease and hereditary angioedema due to C1-inhibitor deficiency. Screening patients with hereditary angioedema for celiac disease: is it worth the effort?

    Science.gov (United States)

    Csuka, Dorottya; Kelemen, Zsuzsanna; Czaller, Ibolya; Molnár, Katalin; Füst, George; Varga, Lilian; Rajczy, Katalin; Szabó, Zsófia; Miklós, Kata; Bors, András; Farkas, Henriette

    2011-03-01

    Hereditary angioedema due to C1-inhibitor deficiency is a life-threatening condition, which manifests as edematous attacks involving subcutaneous tissues and/or the upper airway/gastrointestinal mucosa. Celiac disease is a gluten-sensitive small intestinal disorder that can lead to severe villous atrophy, malabsorption, and malignancy. Both hereditary angioedema and celiac disease may present with abdominal symptoms. Our aim was to study the occurrence of celiac disease in the hereditary angioedema population, as well as to analyze the clinical course of cases with both diseases. One hundred and twenty-eight patients with hereditary angioedema were screened for celiac disease, using serological methods [antiendomysial antibodies-immunoglobulin A (IgA), antiendomysial antibodies-IgG and tissue transglutaminase-IgA, tissue transglutaminase-IgG]. Clinical data of a child with hereditary angioedema and celiac disease diagnosed earlier were added to the dataset to be analyzed. Thus, the total number of patients was 129, comprising 107 adults and 22 pediatric patients. In patients with celiac disease, molecular genetics analysis (human leukocyte antigen-DQA1, human leukocyte antigen-DQB1) was carried out along with the introduction of a gluten-free diet and regular follow-up. Four out of the 22 children were diagnosed with celiac disease in our hereditary angioedema population. The prevalence of celiac disease among our pediatric patients with hereditary angioedema (22 children) was higher than in the general population (18.1 vs. 1.2%). Switching from the wheat starch-containing tranexamic acid product to danazol and introducing a gluten-free diet mitigated abdominal symptoms of hereditary angioedema. Similarities between the symptoms of hereditary angioedema and celiac disease may cause difficulties in differential diagnosis, as well as in choosing the appropriate therapy. In our opinion, screening hereditary angioedema patients for celiac disease is warranted if

  16. [Hereditary breast and ovarian cancer].

    Science.gov (United States)

    Lax, S F

    2017-05-01

    Hereditary breast and ovarian carcinomas are frequently caused by germline mutations of the BRCA1 and BRCA2 genes (BRCA1/2 syndromes) and are often less associated with other hereditary syndromes such as Li-Fraumeni and Peutz-Jeghers. The BRCA1/2 proteins have a special role in DNA repair. Therefore, loss of function due to mutation causes an accumulation of mutations in other genes and subsequent tumorigenesis at an early age. BRCA1/2 mutations are irregularly distributed over the length of the genes without hot spots, although special mutations are known. Breast and ovarian cancer occur far more frequently in women with BRCA1/2 germline mutations compared with the general population. Breast cancer occurs increasingly from the age of 30, ovarian cancer in BRCA1 syndrome from the age of 40 and BRCA2 from the age of 50. Suspicion of a BRCA syndrome should be prompted in the case of clustering of breast cancer in 1st degree relatives, in particular at a young age, if breast and ovarian cancer have occurred, and if cases of male breast cancer are known. Breast carcinomas with medullary differentiation seem to predominate in BRCA syndromes, but other carcinoma types may also occur. BRCA germline mutations seem to occur frequently in triple-negative breast carcinomas, whereas an association with ductal carcinoma in situ (DCIS) is rare. Ovarian carcinomas in BRCA syndromes are usually high-grade serous, mucinous carcinomas and borderline tumors are unusual. Pathology plays a special role within the multidisciplinary team in the recognition of patients with hereditary cancer syndromes.

  17. Hereditary breast and ovarian cancer

    DEFF Research Database (Denmark)

    Nielsen, Finn Cilius; Hansen, Thomas van Overeem; Sørensen, Claus Storgaard

    2016-01-01

    Genetic abnormalities in the DNA repair genes BRCA1 and BRCA2 predispose to hereditary breast and ovarian cancer (HBOC). However, only approximately 25% of cases of HBOC can be ascribed to BRCA1 and BRCA2 mutations. Recently, exome sequencing has uncovered substantial locus heterogeneity among...... of putative causal variants and the clinical application of new HBOC genes in cancer risk management and treatment decision-making....... affected families without BRCA1 or BRCA2 mutations. The new pathogenic variants are rare, posing challenges to estimation of risk attribution through patient cohorts. In this Review article, we examine HBOC genes, focusing on their role in genome maintenance, the possibilities for functional testing...

  18. Hereditary & familial colorectal cancer : Identification, characteristics, surveillance

    NARCIS (Netherlands)

    Kallenberg, F.G.J.

    2017-01-01

    Of all colorectal cancer (CRC) cases, 15-20% is related to familial or hereditary factors. Diagnosing familial and hereditary CRC syndromes is important for several reasons. One of these is that surveillance colonoscopies can reduce CRC incidence and mortality importantly. A complete family history

  19. Hereditary cerebral small vessel disease and stroke

    DEFF Research Database (Denmark)

    Søndergaard, Christian Baastrup; Nielsen, Jørgen Erik; Hansen, Christine Krarup

    2017-01-01

    Cerebral small vessel disease is considered hereditary in about 5% of patients and is characterized by lacunar infarcts and white matter hyperintensities on MRI. Several monogenic hereditary diseases causing cerebral small vessel disease and stroke have been identified. The purpose of this system...

  20. Hereditary spastic paraplegia with cerebellar ataxia

    DEFF Research Database (Denmark)

    Nielsen, J E; Johnsen, B; Koefoed, P

    2004-01-01

    Complex forms of hereditary spastic paraplegia (HSP) are rare and usually transmitted in an autosomal recessive pattern. A family of four generations with autosomal dominant hereditary spastic paraplegia (AD-HSP) and a complex phenotype with variably expressed co-existing ataxia, dysarthria...

  1. Osmotic stress induced oxidative damage: possible mechanism of cataract formation in diabetes.

    Science.gov (United States)

    Hashim, Zehra; Zarina, Shamshad

    2012-01-01

    Chronic hyperglycemia causes increased level of reactive oxygen species which is thought to be involved in the pathogenesis of diabetes associated complications including cataract. In diabetic cataractous lens, over production of free radicals and decreased capacity of antioxidant defense system are the major contributors to oxidative damage by polyol pathway and advanced glycation end products. The current study focused on analysis of factors associated with osmotic imbalance and oxidative stress in aging and diabetic human cataractous lenses. We examined activities of polyol pathway enzymes, G6PD and glutathione system in lenses from subjects suffering from cataract due to aging and diabetes. We observed elevated activities of aldose reductase and sorbitol dehydrogenase while G6PD and glutathione system enzyme activities were found to be lower in cataractous subjects suffering from diabetes. The findings from the current study support the premise that osmotic imbalance, AGEs formation and oxidative stress contribute synergistically to the development of lens opacity in hyperglycemia. Copyright © 2012 Elsevier Inc. All rights reserved.

  2. The carbon footprint of cataract surgery.

    Science.gov (United States)

    Morris, D S; Wright, T; Somner, J E A; Connor, A

    2013-04-01

    Climate change is predicted to be one of the largest global health threats of the 21st century. Health care itself is a large contributor to carbon emissions. Determining the carbon footprint of specific health care activities such as cataract surgery allows the assessment of associated emissions and identifies opportunities for reduction. To assess the carbon footprint of a cataract pathway in a British teaching hospital. This was a component analysis study for one patient having first eye cataract surgery in the University Hospital of Wales, Cardiff. Activity data was collected from three sectors, building and energy use, travel and procurement. Published emissions factors were applied to this data to provide figures in carbon dioxide equivalents (CO2eq). The carbon footprint for one cataract operation was 181.8 kg CO2eq. On the basis that 2230 patients were treated for cataracts during 2011 in Cardiff, this has an associated carbon footprint of 405.4 tonnes CO2eq. Building and energy use was estimated to account for 36.1% of overall emissions, travel 10.1% and procurement 53.8%, with medical equipment accounting for the most emissions at 32.6%. This is the first published carbon footprint of cataract surgery and acts as a benchmark for other studies as well as identifying areas for emissions reduction. Within the procurement sector, dialogue with industry is important to reduce the overall carbon footprint. Sustainability should be considered when cataract pathways are designed as there is potential for reduction in all sectors with the possible side effects of saving costs and improving patient care.

  3. Secondary glaucoma after pediatric cataract surgery

    Directory of Open Access Journals (Sweden)

    Yasin Çinar

    2013-04-01

    Full Text Available AIM:To determine the incidence and risk factors of secondary glaucoma after pediatric cataract surgery. METHODS: Two hundred and forty nine eyes of 148 patients underwent cataract surgery without intraocular lens (IOL implantation (group 1, and 220 eyes of 129 patients underwent cataract surgery with IOL implantation (group 2 retrospectively, were evaluated between 2000 and 2011.The outcome measure was the presence or absence of post-cataract surgery glaucoma, defined as an intraocular pressure (IOP ≥26mmHg, as measured on at least two occasions along with corneal or optic nerve changes. RESULTS: The mean follow-up periods of group 1 and 2 were (60.86±30.95 months (12-123 months and (62.11±31.29 months (14-115 months respectively. In group 1, 12 eyes of 8 patients (4.8% developed glaucoma. None of the patients developed glaucoma after surgery in group 2. The mean age of the patients at the cataract surgery was (2.58±0.90 months (1 month-4 months and the average period for glaucoma development after surgery was (9.50±4.33 months (4-16 months in group 1. Three of the 12 glaucomatous eyes were controlled with antiglaucomatous medication and 9 eyes underwent trabeculectomy+mitomycin C surgery. One patient underwent a second trabeculectomy + mitomycin C operation for both of his eyes. CONCLUSION: The incidence of glaucoma after pediatric cataract surgery is very low in patients in whom IOL is implanted. The aphakic eyes after pediatric cataract surgery are at an increased risk for glaucoma development particularly if they underwent surgery before 4 months of age.

  4. The molecular classification of hereditary endocrine diseases.

    Science.gov (United States)

    Ye, Lei; Ning, Guang

    2015-12-01

    Hereditary endocrine diseases are an important group of diseases with great heterogeneity. The current classification for hereditary endocrine disease is mostly based upon anatomy, which is helpful for pathophysiological interpretation, but does not address the pathogenic variability associated with different underlying genetic causes. Identification of an endocrinopathy-associated genetic alteration provides evidence for differential diagnosis, discovery of non-classical disease, and the potential for earlier diagnosis and targeted therapy. Molecular diagnosis should be routinely applied when managing patients with suspicion of hereditary disease. To enhance the accurate diagnosis and treatment of patients with hereditary endocrine diseases, we propose categorization of endocrine diseases into three groups based upon the function of the mutant gene: cell differentiation, hormone synthesis and action, and tumorigenesis. Each category was further grouped according to the specific gene function. We believe that this format would facilitate practice of precision medicine in the field of hereditary endocrine diseases.

  5. Application of ultrasound biomicro-scopy in the planning of cataract surgery in anterior megalophthalmos

    Directory of Open Access Journals (Sweden)

    Mohammad Ali Zare

    2011-01-01

    Full Text Available Anterior megalophthalmos, a rare hereditary disorder, is macrocornea (horizontal corneal diameter more than 13 mm in association with enlarged lens-iris diaphragm and ciliary ring. One of the major challenging issues in the cataract surgery of these patients is preventing intraocular lens (IOL malposition, because of probable large capsular bag. Several approaches have been selected by previous surgeons, such as, custom-made anterior chamber IOLs. In this study, we show a normal capsular bag diameter despite ciliary ring enlargement, with application of ultrasound biomicroscopy (UMB. We suggest that in cases of anterior megalophthalmos without phacodonesis, UBM could measure the actual size of the capsular bag and obviate the need for further procedures.

  6. Role of calcium in selenium cataract.

    Science.gov (United States)

    Shearer, T R; David, L L

    The purpose of this research was to test the role of certain minerals in the formation of cataract caused by an overdose of selenium. Several pieces of information indicated that lenticular calcium may play an important role in selenite cataractogenesis: 1) Lens calcium concentrations in selenite treated rats were increased more than 5-fold, and the increase in lens calcium was localized in the nucleus. 2) Lens calcium concentrations were elevated at least one full day before actual formation of nuclear cataract, but serum calcium levels were not changed. 3) In older rats not susceptible to selenite cataract, lens calcium was not significantly increased. 4) No evidence was found for a generalized disruption in lens permeability, since no major changes in lens water, sodium, and potassium levels were observed, and 5) when levels of calcium observed in selenite cataract were added to solutions of soluble proteins from rat lenses, light scattering was increased. Selenium-overdose cataracts may provide an important model for studies on the role of calcium in cataractogenesis.

  7. Achieving target refraction after cataract surgery.

    Science.gov (United States)

    Simon, Shira S; Chee, Yewlin E; Haddadin, Ramez I; Veldman, Peter B; Borboli-Gerogiannis, Sheila; Brauner, Stacey C; Chang, Kenneth K; Chen, Sherleen H; Gardiner, Matthew F; Greenstein, Scott H; Kloek, Carolyn E; Chen, Teresa C

    2014-02-01

    To evaluate the difference between target and actual refraction after phacoemulsification and intraocular lens implantation at an academic teaching institution's Comprehensive Ophthalmology Service. Retrospective study. We examined 1275 eye surgeries for this study. All consecutive cataract surgeries were included if they were performed by an attending or resident surgeon from January through December 2010. Postoperative refractions were compared with preoperative target refractions. Patients were excluded if they did not have a preoperative target refraction documented or if they did not have a recorded postoperative manifest refraction within 90 days. The main outcome measure was percentage of cases achieving a postoperative spherical equivalent ± 1.0 diopter (D) of target spherical equivalent. We performed 1368 cataract surgeries from January through December of 2010. Of these, 1275 (93%) had sufficient information for analysis. Of the included cases, 94% (1196 of 1275) achieved ± 1.0 D of target refraction by 90 days after cataract surgery. This paper establishes a new benchmark for a teaching hospital, where 94% of patients achieved within 1.0 D of target refraction after cataract surgery. The refractive outcomes after cataract surgery at this academic teaching institution were higher than average international benchmarks. Copyright © 2014 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

  8. Surgical options for correction of refractive error following cataract surgery

    OpenAIRE

    Abdelghany, Ahmed A.; Alio, Jorge L.

    2014-01-01

    Summary Refractive errors are frequently found following cataract surgery and refractive lens exchange. Accurate biometric analysis, selection and calculation of the adequate intraocular lens (IOL) and modern techniques for cataract surgery all contribute to achieving the goal of cataract surgery as a refractive procedure with no refractive error. However, in spite of all these advances, residual refractive error still occasionally occurs after cataract surgery and laser in situ keratomileusi...

  9. Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis)

    Energy Technology Data Exchange (ETDEWEB)

    Fisher, S.E.; Van Bakel, I.; Craig, I.W. [Univ. of Oxford (United Kingdom)] [and others

    1995-10-10

    Dent disease, an X-linked familial renal tubular disorder, is a form of Fanconi syndrome associated with proteinuria, hypercalciuria, nephrocalcinosis, kidney stones, and eventual renal failure. We have previously used positional cloning to identify the 3{prime} part of a novel kidney-specific gene (initially termed hClC-K2, but now referred to as CLCN5), which is deleted in patients from one pedigree segregating Dent disease. Mutations that disrupt this gene have been identified in other patients with this disorder. Here we describe the isolation and characterization of the complete open reading frame of the human CLCN5 gene, which is predicted to encode a protein of 746 amino acids, with significant homology to all known members of the ClC family of voltage-gated chloride channels. CLCN5 belongs to a distinct branch of this family, which also includes the recently identified genes CLCN3 and CLCN4. We have shown that the coding region of CLCN5 is organized into 12 exons, spanning 25-30 kb of genomic DNA, and have determined the sequence of each exon-intron boundary. The elucidation of the coding sequence and exon-intron organization of CLCN5 will both expedite the evaluation of structure/function relationships of these ion channels and facilitate the screening of other patients with renal tubular dysfunction for mutations at this locus. 31 refs., 5 figs.

  10. Outcome of Cataract Surgery in Lafia | Adenuga | Journal of ...

    African Journals Online (AJOL)

    Ninety six eyes had extracapsular cataract extraction with intraocular lens implantation and 130 eyes had manual small incision cataract surgery with intraocular lens implantation. Postoperative best corrected visual acuity of 6/18 or better was achieved in 49% of all eyes, in 46% of eyes that had extracapsular cataract ...

  11. Prognosis of senile cataract extraction with increasing age | Idu ...

    African Journals Online (AJOL)

    In order to determine the prognosis of senile cataract extraction with increasing age, a case series of 240 patients without ocular or systemic comorbidity aged 51 to 80 years who underwent intracapsular cataract extraction (ICCE), and extracapsular cataract extraction (ECCE), between January 1991 andDecembers 2000 ...

  12. Monitoring Cataract Surgical Outcome in a Public Hospital in Orlu ...

    African Journals Online (AJOL)

    Objective: To determine the proportion and causes of poor visual outcome of cataract operations done in a public hospital in southeast Nigeria and propose actions to improve the cataract surgical outcome. Method: A prospective observational analysis of the initial hundred cases of cataract operations done in Imo State ...

  13. Cataract surgical uptake among older adults in Ghana | Ackuaku ...

    African Journals Online (AJOL)

    Objectives: In sub-Saharan Africa, cataract surgical services are highly inadequate and surgical uptake for cataract is low. This paper describes cataract surgical uptake among older adults in Ghana. Methods: This work was based on World Health Organization's multi-country Study on global Ageing and adult health ...

  14. Laser fluorescent method for differential diagnostics of cataract

    Science.gov (United States)

    Salmin, Vladimir V.; Provorov, Alexander S.; Lazarenko, Victor I.; Salmina, Alla B.; Oskirko, Svetlana A.; Fokina, Darya S.; Vladimirova, Ekaterina S.

    2007-06-01

    Laser fluorescent analysis has been used for assessing the spectra of normal and nuclear cataract lens fluorescence in vivo. Spectral criterion (index of opacity) was developed for objective differentiation of cataract's stage. Contribution of ascorbic acid into spectrum of cataract lens fluorescence was analyzed.

  15. Parinaud's oculoglandular syndrome and possibly causing cortical cataract

    Directory of Open Access Journals (Sweden)

    Mariana Heid Rocha Hemerly

    2014-06-01

    Full Text Available According to the World Health Organization, cataract is the leading cause of blindness and visual impairment throughout the world. However, the etiology of cataracts often remains unknown. This report describes the development of cortical cataract in a patient after Parinaud's oculoglandular syndrome caused by the fungus Sporothrix schenckii.

  16. Visual Outcome after Small Incision Cataract Surgery in South ...

    African Journals Online (AJOL)

    user

    –75% of people who have had cataract surgery have a presenting visual acuity of worse than ..... care after cataract surgery in rural China. Archives of. Ophthalmology 2007; 11:125-127. 17 Lewallen S, Courtright P. Gender and use of cataract ...

  17. The Paediatric Cataract Register (PECARE): an overview of operated childhood cataract in Sweden and Denmark.

    Science.gov (United States)

    Magnusson, Gunilla; Haargaard, Birgitte; Basit, Saima; Lundvall, Anna; Nyström, Alf; Rosensvärd, Annika; Tornqvist, Kristina

    2018-02-01

    To report basic epidemiological data concerning surgically treated childhood cataract in Sweden and Denmark. Data were derived from the Paediatric Cataract Register (PECARE), a binational, web-based surgical register representing Sweden and Denmark. All children operated before 8 years of age between 1 January 2007 and 31 December 2013 were included. Age-specific prevalence per 100 000 population was calculated. A total 574 operations in 213 boys (51.7%) and 199 girls (48.3%), altogether 412 children, were registered, the vast majority (n = 395/412; 95.9%) being individuals with congenital/infantile cataract. Of these 412, a total of 294 (147 boys and 147 girls) were Swedish and 118 (66 boys and 52 girls) were Danish. The age-specific prevalence of operated cataract in Sweden was 31/100 000 and in Denmark 28/100 000. In 454 of 574 eyes (79.1%), the cataract was dense. Altogether, 266 of 574 (46.3%) were operated during the first year of life, 193 during the first 12 weeks representing 33.6% of all operations. A primary intraocular lens (IOL) implantation was done in altogether 411 of 574 eyes (71,6%). In total, 210 unilateral cataract operations (210/574; 36.6%) were performed. Persistent fetal vasculature (PFV) was present in 64 of 193 (33.1%) of those with a congenital unilateral cataract. In 84 individuals (84/395; 21.3%) with congenital or infantile cataract, a coexisting disorder was found. The age-specific binational prevalence of operated congenital/infantile cataract in Sweden and Denmark is 30/100 000. About half of the operations are performed within the first year of life, one-third within the first 3 months. In our study population, a primary IOL was implanted in the majority of cases. © 2017 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.

  18. Lack of Benefit of Early Intervention with Dietary Flax and Fish Oil and Soy Protein in Orthologous Rodent Models of Human Hereditary Polycystic Kidney Disease.

    Directory of Open Access Journals (Sweden)

    Tamio Yamaguchi

    Full Text Available Rationale for dietary advice in polycystic kidney disease (PKD is based in part on animal studies that have examined non-orthologous models with progressive development of cystic disease. Since no model completely mimics human PKD, the purpose of the current studies was to examine the effects of dietary soy protein (compared to casein or oils enriched in omega-3 fatty acids (fish or flax oil compared to soy oil on early disease progression in two orthologous models of PKD. The models studied were Pkd2WS25/- mice as a model of autosomal dominant PKD, and PCK rats as a model of autosomal recessive PKD. After 13 weeks of feeding, dietary fish (but not flax oil resulted in larger kidneys and greater kidney water content in female Pkd2WS25/- compared to control mice. After 12 weeks of feeding male PCK compared to control rats, both fish and flax compared to soy oil resulted in enlarged kidneys and livers, greater kidney water content and higher kidney cyst area in diseased rats. Dietary soy protein compared to casein had no effects in Pkd2WS25/- compared to control mice. In PCK rats, kidney and liver histology were not improved, but lower proteinuria and higher urine pH suggest that soy protein could be beneficial in the long term. Therefore, in contrast to studies in non-orthologous models during the progressive development phase, these studies in orthologous PKD models do not support dietary advice to increase soy protein or oils enriched in omega-3 oils in early PKD.

  19. Lens cytoskeleton and after-cataract.

    Science.gov (United States)

    Rafferty, N S; Rafferty, K A

    1992-01-01

    Lens epithelial and other ocular cells contain complex arrays of actin filaments which might be expected to allow them to migrate following injury: specifically into the capsular sac in cases of extracapsular cataract extraction or traumatic cataract. To test the possibility, a culture system was developed using a melanotic strain of mice, in which migrating cells are often 'marked' by melanosomes. Injured lenses were cultured on permeable membranes in contact with nutrient medium, and surrounded by iridial tract fragments. After study by light and electron microscopy, it was established that both pigmented and unpigmented cells migrated from the surrounding explants, apparently along the substrate meniscus, to the outside of the lens capsule and then through the wound to the capsule interior. This study suggests a source of cells in development of after-cataract syndrome.

  20. Cataract surgery on post radial keratotomy patients

    Directory of Open Access Journals (Sweden)

    Alessandro Meduri

    2017-07-01

    Full Text Available This study aims to evaluate and to compare three different approaches of cataract surgery to patients with previous radial keratotomy (RK, and to analyze the mechanical properties of the cornea after cataract surgery. Three groups of patients, each one including 8 eyes of patients with 16 RK incisions. The first group includes eyes with the first cataract incision superiorly, the second group in the temporal area, the third group in temporal area and a precautionary stabilizing suture across the RK incision adjacent to the main tunnel. In the first group intraoperative dehiscence occurred in three eyes (37.5%: it required immediate application of a suture. In the second group dehiscence occurred intraoperatively in two radial scars (20%: it required immediate application of a suture. In the third group, no intraoperative dehiscences were observed. The stabilizing suture of the RK incision works safer, with a lower risk of dehiscences and less post-operative astigmatism.

  1. Clear corneal incision in cataract surgery.

    Science.gov (United States)

    Al Mahmood, Ammar M; Al-Swailem, Samar A; Behrens, Ashley

    2014-01-01

    Since the introduction of sutureless clear corneal cataract incisions, the procedure has gained increasing popularity worldwide because it offers several advantages over the traditional sutured scleral tunnels and limbal incisions. Some of these benefits include lack of conjunctival trauma, less discomfort and bleeding, absence of suture-induced astigmatism, and faster visual rehabilitation. However, an increasing incidence of postoperative endophthalmitis after clear corneal cataract surgery has been reported. Different authors have shown a significant increase up to 15-fold in the incidence of endophthalmitis following clear corneal incision compared to scleral tunnels. The aim of this report is to review the advantages and disadvantages of clear corneal incisions in cataract surgery, emphasizing on wound construction recommendations based on published literature.

  2. Cataract surgery on post radial keratotomy patients

    Science.gov (United States)

    Meduri, Alessandro; Urso, Mario; Signorino, Giuseppe A.; Rechichi, Miguel; Mazzotta, Cosimo; Kaufman, Stephen

    2017-01-01

    This study aims to evaluate and to compare three different approaches of cataract surgery to patients with previous radial keratotomy (RK), and to analyze the mechanical properties of the cornea after cataract surgery. Three groups of patients, each one including 8 eyes of patients with 16 RK incisions. The first group includes eyes with the first cataract incision superiorly, the second group in the temporal area, the third group in temporal area and a precautionary stabilizing suture across the RK incision adjacent to the main tunnel. In the first group intraoperative dehiscence occurred in three eyes (37.5%): it required immediate application of a suture. In the second group dehiscence occurred intraoperatively in two radial scars (20%): it required immediate application of a suture. In the third group, no intraoperative dehiscences were observed. The stabilizing suture of the RK incision works safer, with a lower risk of dehiscences and less post-operative astigmatism. PMID:28730124

  3. Analysis of Factors Associated with the Ocular Features of Congenital Cataract Children in the Shanghai Pediatric Cataract Study

    Directory of Open Access Journals (Sweden)

    Wenwen He

    2017-01-01

    Full Text Available Purpose. To investigate the ocular features of children with congenital cataract in a tertiary referral eye center in East China. Methods. We retrospectively reviewed the clinical data of congenital cataract children who underwent cataract surgery between April 2009 and April 2014 at the Eye and ENT Hospital of Fudan University and identified factors associated with the axial length (AXL and corneal curvature (K value. Results. We included 493 children, 210 with unilateral and 283 with bilateral cataract. The mean AXL was 22.03 ± 1.97 mm and the mean K value was 43.61 ± 1.86 D. Age showed a linear correlation with AXL in unilateral cataract eyes and a logarithmic correlation with AXL in bilateral cataract eyes (both P<0.001. AXL was longer and the K value was smaller (both P<0.01 in boys than in girls after adjusting for age and cataract laterality. AXL was longer in unilateral cataract eyes than in bilateral cataract eyes after adjusting for age and gender (P=0.004. In children with unilateral cataract, AXL was significantly longer in the affected eye than in the contralateral eye (P<0.001. Conclusion. Age, gender, and cataract laterality together contribute to the development of ocular features of congenital cataract children, especially for AXL.

  4. α1-Proteinase inhibitor (human) in the treatment of hereditary emphysema secondary to α1-antitrypsin deficiency: number and costs of years of life gained.

    Science.gov (United States)

    Sclar, David Alexander; Evans, Marc A; Robison, Linda M; Skaer, Tracy L

    2012-05-01

    α(1)-Antitrypsin deficiency (α-ATD) is a disorder inherited in an autosomal recessive pattern, with co-dominant alleles known as the protease inhibitor system (Pi). The main function of α(1)-antitrypsin (α-AT) is to protect the lungs against a powerful elastase released from neutrophil leucocytes. α-ATD typically presents with a serum α-AT level of effective in raising serum α-AT levels to desired levels (>80 mg/dL), with few, if any, adverse effects. The present study was designed to discern the number of years of life gained, and the expense per year of life gained, associated with use of α-AT augmentation therapy (α(1)-proteinase inhibitor [human]), relative to 'no therapeutic intervention' in persons with α-ATD. Monte Carlo simulation (MCS) was used to: (i) estimate the number of years of life gained; and (ii) estimate the health service expenditures per year of life gained for persons receiving, or not receiving, α-AT augmentation therapy. MCS afforded a decision-analytical framework parameterized with both stochastic (random) and deterministic (fixed) components, and yielded a fiscal risk-profile for each simulated cohort of interest (eight total: by sex, smoking status [non-smoker; or past use (smoker)]; and use of α-AT augmentation therapy). The stochastic components employed in the present inquiry were: (i) age-specific body weight, and height; (ii) age-specific mortality; and (iii) the probability distribution for receipt of a lung transplant, as a function of FEV(1). The deterministic components employed in the present inquiry were: (i) age in years for the simulated cohort; (ii) outlays for α-AT augmentation therapy; (iii) health service expenditures associated with receipt of a lung transplant; (iv) annual decline in FEV(1); (v) percent predicted FEV(1); (vi) initiation of α-AT augmentation therapy as a function of percent predicted FEV(1); (vii) need for a lung transplant as a function of percent predicted FEV(1); (viii) annual rate of

  5. Outsourced cataract surgery and postoperative endophthalmitis

    DEFF Research Database (Denmark)

    Solborg Bjerrum, Søren; Kiilgaard, Jens F; Mikkelsen, Kim Lyngby

    2013-01-01

    To compare the risk of postoperative endophthalmitis (PE) after cataract surgery at eye departments in public hospitals and private hospitals/eye clinics and to evaluate if the Danish National Patient Registry (NPR) is a reliable database to monitor the PE risk.......To compare the risk of postoperative endophthalmitis (PE) after cataract surgery at eye departments in public hospitals and private hospitals/eye clinics and to evaluate if the Danish National Patient Registry (NPR) is a reliable database to monitor the PE risk....

  6. Idiopathic Thrombocytopenic Purpura Misdiagnosed as Hereditary Angioedema

    DEFF Research Database (Denmark)

    Andersen, Michelle Fog; Bygum, Anette

    2015-01-01

    Hereditary angioedema is a rare, but potentially life-threatening genetic disorder that results from an autosomal dominant trait. It is characterized by acute, recurrent attacks of severe local edema, most commonly affecting the skin and mucosa. Swelling in hereditary angioedema patients does...... however not always have to be caused by angioedema but can relate to other concomitant disorders. In this report we are focusing on misdiagnosis in a patient with known hereditary angioedema, whose bleeding episode caused by idiopathic thrombocytopenic purpura was mistaken for an acute attack...

  7. Hereditary colorectal cancer syndromes and genetic testing.

    Science.gov (United States)

    Macaron, Carole; Leach, Brandie H; Burke, Carol A

    2015-01-01

    Colorectal cancer (CRC) is a leading cause of cancer and cancer deaths in the Western world. Approximately 5-10% of CRC are hereditary, due to a defined genetic cause. Individuals and families affected with a hereditary CRC syndrome exhibit benign and malignant extra-intestinal tumors, require aggressive cancer screening and benefit from management by a multi-disciplinary team of professionals. The clinical manifestations, genetic causes and current management of patients with hereditary colon cancer syndrome is provided. © 2014 Wiley Periodicals, Inc.

  8. Radiation-induced cataract-genesis: pathophysiologic, radiobiological and clinical aspects; Catarate radio-induite: aspects physiopathologiques, radiobiologiques et cliniques

    Energy Technology Data Exchange (ETDEWEB)

    Belkacemi, Y.; Touboul, E.; Meric, J.B. [Hopital Tenon, Service d' Oncologie-Radiotherapie, 75 - Paris (France); Rat, P.; Warnet, J.M. [Paris-5 Univ., Lab. de Toxicologie, UFR Pharmacie, Unite de Pharmacotoxicologie Cellulaire, Service Pharmacie, 75 (France)

    2001-08-01

    Cataract-genesis is a widely reported late effect of irradiated crystalline lens. In this review the authors discussed the different aspects of radiation cataract pathogenesis, and the different mechanisms involved in the lens opacification, particularly the epithelium modifications such as epithelial cell death. The authors also reported the influence of radiation exposure on cataract formation following total body irradiation (TBI) and autologous or allogeneic bone marrow transplantation for hematologic malignancies. Moreover, the radiobiological parameters are not studied for the crystalline lens of human. We applied for the first time the linear quadratic (LQ) and biological effective dose (BED) concept to TBI data. The calculated value of {alpha}/{beta} of 1 Gy is in the range of the values reported for the other late responding tissues. The other risk factors for cataract development after TBI such as age, gender, central nervous system boost, long-term steroid therapy and heparin administration are discussed. In terms of cataract or sicca syndrome prevention, numerous compounds have been successfully tested in experimental models or used for the prevention of radiation-induced xerostomia in patients treated for head and neck cancer. However, none of them has been clinically evaluated for ocular radiation late effects prevention. In this report the authors discussed some of the radioprotectors potentially interesting for radiation-induced cataract or sicca syndrome prevention. (author)

  9. Prevention of cataracts in pink-eyed RCS rats by dark rearing.

    Science.gov (United States)

    O'Keefe, T L; Hess, H H; Zigler, J S; Kuwabara, T; Knapka, J J

    1990-11-01

    Royal College of Surgeons rats have hereditary retinal degeneration and associated posterior subcapsular opacities (PSO) of the lens, detectable by slitlamp at 7-8 postnatal weeks in both pink- and black-eyed rats. The retinal degeneration is intensified by light, especially in pink-eyed rats. A fourth of pink-eyed rats developed mature cataracts by 9-12 months of age, but black-eyed rats whose retinas are protected from light by pigmented irises and pigment epithelium rarely have mature cataracts (3% or less), indicating light may be a factor in cataractogenesis. Prior work had shown that dark rearing reduced the rate of retinal degeneration in pink- but not black-eyed rats, but cataracts were not studied. In the present work, pregnant pink-eyed females were placed in a darkroom 1 week before parturition. Pups were removed over intervals at 20-85 postnatal days for: (a) microscopic study of fresh lenses and of fixed, stained retina and lens, and (b) counts of cells mm-2 of the web-like vitreous cortex after it had been dissected free. The macrophage-like cells are a quantitative index of immune reaction to retinal damage. At 50-53 postnatal days, in pink-eyed cyclic light reared RCS, the mean number of macrophages was 4.6-fold that in congenic controls, but in those that were dark reared it was only 1.4-fold. This was less than the increase in cyclic light reared black-eyed RCS (2.3-fold that in congenic black-eyed controls). Total absence of light reduced retinal degeneration and the number of macrophages, and prevented PSO detectable microscopically.(ABSTRACT TRUNCATED AT 250 WORDS)

  10. Cataract Blindness, Surgical Coverage, Outcome, and Barriers to Uptake of Cataract Services in Plateau State, Nigeria

    Science.gov (United States)

    Odugbo, Ojo P.; Mpyet, Caleb D.; Chiroma, Muhammad R.; Aboje, Aboje O.

    2012-01-01

    Purpose: The purpose was to estimate the prevalence of blindness due to cataract, assess visual outcomes of cataract surgery, and determine the cataract surgical coverage rate and barriers to uptake of services among individuals aged 50 years or older in Plateau State, Nigeria. Materials and Methods: A population-based, cross-sectional survey of 4200 adults 50 years or older was performed. Multistage stratified random sampling, with probability proportional to size was used to select a representative sample. The Rapid Assessment of Cataract Surgical Services protocol was used. Statistical significance was indicated by (P cataract was 2.1%, [95% confidence intervals (CI): 1.7-2.5%] in the entire cohort, 2.4% in females (95% CI: 1.8-3.8%); and 1.8% in males (95% CI: 1.2-2.4%) (χ2 = 0.85, P > 0.05). The prevalence of monocular blindness due to cataract was 5.9% (95% CI: 5.2-6.6%). The cataract surgical coverage for subjects with visual acuity (VA) less 3/60 was 53.8% in the entire cohort; 60.5% for males and 48% for females (χ2 = 2.49, P > 0.05). The couching coverage for subjects who were blind was 12%. A total of 180 eyes underwent surgical intervention (surgery or couching) for cataract, of which, 48 (26.7%) eyes underwent couching. The prevalence of bilateral (pseudo) aphakia was 1.5%, (95% CI: 1.2-1.9%) and 2.7% (95% CI: 2.2-3.2%) for unilateral (pseudo) aphakia. Visual outcomes of the 180 eyes that underwent surgical intervention were good (VA ≥ 6/18) in 46 (25.6%) eyes and poor (VA cataract surgery were not using spectacles 74 (71.2%). Cost and lack of awareness were the main barriers to uptake of cataract surgery services. Conclusion: Couching remains a significant challenge in Nigeria. The outcomes of cataract surgery are poor with the lack of aphakic correction being the main cause of the poor outcomes. PMID:22837620

  11. [Long-term outcomes after cataract surgery in infants with congenital cataract].

    Science.gov (United States)

    Qi, J Y; Xiao, W; Wang, M Y; Zhao, D X; Pu, W

    2017-04-11

    Objective: To observe the long-term outcomes after congenital cataract surgery performed prior to 36 months of age. Methods: A retrospective case study was conducted. Thirty-two cases (57 eyes) of congenital cataract were included from January 2004 to January 2012. All patients received intraocular lens (IOL) implantation with posterior continuous curvilinear capsulorhexies and anterior vitrectomy after cataract extraction and were followed up. At the last visit, the best corrected visual acuity (BCVA) was determined and postoperative complications were evaluated during follow-up with a longest time of 13 years. Non-normal distribution showed in median M (minimum and maximum). Data were analyzed by Kruskal Wallis single factor variance analysis and multiple comparison. The independent Mann-Witney U test was used to analyze non-normal distribution data. Results: There were thirty-two cases (57 eyes) of congenital cataract including 7 unilateral cases and 25 bilateral cases. The median age at cataract extraction was 6.0months; the median IOL implantation age was 28.0 months and the median duration of follow-up after cataract extraction was 67.0 months. The median postoperative BCVA was (LogMAR) 0.52. Unilateral and bilateral cataract postoperative BCVA difference had no statistical significance (U=107, P>0.05). Patients received cataract surgery in 2 to 4 months, the postoperative BCVA was better than in 5 to 8 months. The difference was statistical significance (H=-15.33, Pcataract surgeries performed prior to 36 mouths of life together with the implantation of IOL can achieve good visual acuity. No serious complications occurred. (Chin J Ophthalmol, 2017, 53: 266-273).

  12. Genome-wide sequencing to identify the cause of hereditary cancer syndromes: with examples from familial pancreatic cancer

    Science.gov (United States)

    Roberts, Nicholas J.; Klein, Alison P.

    2013-01-01

    Advances in our understanding of the human genome and next-generation technologies have facilitated the use of genome-wide sequencing to decipher the genetic basis of Mendelian disease and hereditary cancer syndromes. The application of genome-wide sequencing in hereditary cancer syndromes has had mixed success, in part, due to complex nature of the underlying genetic architecture. In this review we discuss the use of genome-wide sequencing in both Mendelian diseases and hereditary cancer syndromes, highlighting the potential and challenges of this approach using familial pancreatic cancer as an example. PMID:23196058

  13. Diagnostic Approach to Hereditary Colorectal Cancer Syndromes

    Science.gov (United States)

    Kalady, Matthew F.; Heald, Brandie

    2015-01-01

    Approximately 5 to 10% of colorectal cancers develop within a known hereditary syndrome. Specific underlying genetic mutations drive the clinical phenotype and it is imperative to determine the genetic etiology to provide meaningful surveillance and intervention. Recognizing potential patients and families with a hereditary predisposition is the first step in management. Syndromes can be categorized according to polyp burden as polyposis or nonpolyposis. Clinical assessment should start with a personal and family medical history, physical examination, and evaluation for the presence and type of colorectal polyps or cancers. Key information is gained from these simple steps and should guide the specific genetic analysis for diagnosis. Genetic counseling is a critical component to any hereditary colorectal cancer program and should be conducted before genetic testing to provide education about the implications of test results. This review focuses on the thought process that drives initial clinical evaluation and guides genetic testing for patients with suspected hereditary colorectal cancer syndromes. PMID:26664327

  14. How we manage persons with hereditary angioedema

    National Research Council Canada - National Science Library

    Zuraw, Bruce L; Christiansen, Sandra C

    2016-01-01

    Hereditary angioedema ( HAE ) is a rare autosomal dominant genetic disorder clinically characterized by recurrent attacks of subcutaneous and mucosal swelling that can result in significant morbidity and even mortality...

  15. Hereditary History Preserving Bisimilarity Is Undecidable

    DEFF Research Database (Denmark)

    Jurdzinski, Marcin; Nielsen, Mogens

    2000-01-01

    History preserving bisimilarity (hp-bisimilarity) and hereditary history preserving bisimilarity (hhp-bisimilarity) are behavioural equivalences taking into account causal relationships between events of concurrent systems. Their prominent feature is being preserved under action refinement...

  16. Genetics 101 --The Hereditary Material of Life

    Science.gov (United States)

    ... of this page please turn Javascript on. Feature: Genetics 101 Genetics 101 — The Hereditary Material of Life Past Issues / Summer 2013 Table of Contents Genetics is the study of heredity, the process in ...

  17. [Sudden blindness: consider Leber's hereditary optic neuropathy

    NARCIS (Netherlands)

    Schieving, J.H.; Vries, L.B.A. de; Hol, F.A.; Stroink, H.

    2008-01-01

    In 3 young male patients, aged 10, 19 and 21 years respectively, sequential, severe, painless bilateral visual loss occurred. Ophthalmological examination revealed no other abnormalities and this delayed the diagnosis Leber's hereditary optic neuropathy (LHON). LHON is a mitochondrial genetic

  18. Genetics Home Reference: hereditary antithrombin deficiency

    Science.gov (United States)

    ... may have an increased risk for pregnancy loss (miscarriage) or stillbirth. Related Information What does it mean ... Meer J. High long-term absolute risk of recurrent venous thromboembolism in patients with hereditary deficiencies of ...

  19. Cost-effectiveness analysis of cataract surgery with intraocular lens implantation: extracapsular cataract extraction versus phacoemulsification

    Directory of Open Access Journals (Sweden)

    Mohd R.A. Manaf

    2007-03-01

    Full Text Available A randomized single blinded clinical trial to compare the cost-effectiveness of cataract surgery between extracapsular cataract extraction (ECCE and phacoemulsification (PEA was conducted at Hospital Universiti Kebangsaan Malaysia (HUKM from March 2000 until August 2001. The cost of a cataract surgery incurred by hospital, patients and households were calculated preoperatively, one week, two months (for both techniques and six months (for ECCE only. Effectiveness of cataract surgery was assessed using Visual Function 14 (VF-14, quality of life measurement specifically for vision. The cost analysis results from each 50 subjects of ECCE and PEA group showed that average cost for one ECCE after six months post-operation is USD 458 (± USD 72 and for PEA is USD 528 (± USD 125. VF-14 score showed a significant increased after a week, two months and six months post-operation compared to the score before operation for both techniques (p<0.001. However, there was no significant difference between them (p = 0.225. This study indicated that ECCE is more cost effective compared to PEA with cost per one unit increment of VF-14 score of USD 14 compared to USD 20 for PEA. (Med J Indones 2007; 16:25-31 Keywords: cataract, cost-effectiveness, extracapsular cataract extraction, phacoemulsification, visual function 14

  20. The Genetics Of Blood Disorders: Hereditary Hemoglobinopathies.

    OpenAIRE

    Sonati M.F.; Costa F.F.

    2015-01-01

    Objective: To summarize recently published data on the pathophysiology, diagnosis and treatment of sickle cell diseases and β-Thalassemias, the most relevant hereditary hemoglobinopathies in the global population. Sources: Searches were run on the MEDLINE and SCIELO databases, limited to the period from 2003 to May 2008, using the terms hereditary hemoglobinopathies, sickle cell diseases and β-thalassemia. Two books and two chapters were also included. Summary of the findings: More than 2,000...

  1. A Review of Hereditary Fructose Intolerance

    Directory of Open Access Journals (Sweden)

    Mogoş Tiberius

    2016-03-01

    Full Text Available Fructose intolerance is a metabolic disorder with hereditary determinism, clinically manifested on terms of fructose intake. Untreated, hereditary fructose intolerance may result in renal and hepatic failure. Unfortunately, there are no formal diagnostic and surveillance guidelines for this disease. If identified and treated before the occurrence of permanent organ damage, patients can improve their symptoms and self-rated health. Implementation and adherence to a strict fructose free diet is often difficult, but not impossible.

  2. A Review of Hereditary Fructose Intolerance

    OpenAIRE

    Mogoş Tiberius; Iacobini Andra Evelin

    2016-01-01

    Fructose intolerance is a metabolic disorder with hereditary determinism, clinically manifested on terms of fructose intake. Untreated, hereditary fructose intolerance may result in renal and hepatic failure. Unfortunately, there are no formal diagnostic and surveillance guidelines for this disease. If identified and treated before the occurrence of permanent organ damage, patients can improve their symptoms and self-rated health. Implementation and adherence to a strict fructose free diet is...

  3. Mouse Model of Human Hereditary Pancreatitis

    Science.gov (United States)

    2016-09-01

    trypsin-dependent pathway in pancreatitis and to begin testing therapeutic and preventive approaches. Mutations in the digestive enzyme trypsinogen...expression of mutant trypsinogens at the protein level, we will perform chromatographic analysis of the total trypsinogen fraction isolated from mouse...pancreata (Subtask 4a). This subtask has been delayed until homozygous animals could be generated. Homozygous animals are now available and chromatographic

  4. MANAGEMENT OF CATARACT SURGERY IN: A

    African Journals Online (AJOL)

    -0.04 error. A B-scan ultrasound of BE showed an irregular echogenic component within the vitreous and cataract in the RE. A linear elevation of the retinal layer along the .... Peng Q, Vissessok N, Apple D] et al. Surgical prevention of posterior capsule opacification. Part 3: IOL optic barrier effect as the second line defense.

  5. The Outcome of Extracapsular and Phacoemulsification Cataract ...

    African Journals Online (AJOL)

    This study was to evaluate the post operative astigmatism and visual acuity of patients after extra capsular extraction (ECCE) and phacoemulsification (PE) for the purpose of recommending the appropriate referral time for cataract extraction. Subject's hospital file data comprising 30 ECCE and 48 PE were collected and ...

  6. Time and cost of teaching cataract surgery.

    Science.gov (United States)

    Taravella, Michael J; Davidson, Richard; Erlanger, Michael; Guiton, Gretchen; Gregory, Darren

    2014-02-01

    To compare the differences in the time of completion of cataract surgery for residents and attending surgeons and to assign a dollar cost. University of Colorado teaching hospital, Aurora, Colorado, USA. Comparative case series. Cataract cases were divided into 3 levels of difficulty for comparison. Main outcome measures were total case time (incision to patch) and degree of difficulty. Nine residents and 6 attending surgeons participated in the study. Case times were collected for 324 resident cases and 319 attending surgeon cases. The mean attending surgeon case time was 25.75 minutes ± 12.32 (SD) and the mean resident case time, 46.35 ± 16.75 minutes. There was no significant difference in the degree of difficulty between resident cases and attending surgeon cases. Approximately 600 total cases were performed by 4 residents during 3 years of residency training. Taking into account the mean time of case completion for attending surgeons versus residents, the total difference in time if attending surgeons had performed 600 cataracts would be 12,360 minutes. Using a dollar cost of approximately $11.24 per minute at the institution, the cost difference was calculated to be $138,926.40. There was a significant time and dollar cost incurred in teaching cataract surgery. No author has a financial or proprietary interest in any material or method mentioned. Copyright © 2013 ASCRS and ESCRS. Published by Elsevier Inc. All rights reserved.

  7. Cataract intervention surgery: A community approach | Umeh ...

    African Journals Online (AJOL)

    There was no case of post-operative infection. Rehabilitation was done with spectacles. The benefits of successful cataract operation and restoration of adequate vision as an effective motivator in overcoming patient\\'s reluctance and socio-cultural barriers for surgery is highlighted. Nigerian Journal of Ophthalmology Vol.

  8. Dexmedetomidine premedication in cataract surgery under topical ...

    African Journals Online (AJOL)

    Secondary aims were: (1) To study the effect of dexmedetomidine in decreasing the intraocular pressure. (2) The impact on surgeons' satisfaction. (3) Hemodynamic effects. Methods: We conducted a prospective randomized study on ASA I/II patients presenting for cataract surgery under topical anesthesia. Patients were ...

  9. Cataract intervention surgery: A community approach | Umeh ...

    African Journals Online (AJOL)

    ... done with spectacles. The benefits of successful cataract operation and restoration of adequate vision as an effective motivator in overcoming patient\\'s reluctance and socio-cultural barriers for surgery is highlighted. Nigerian Journal of Ophthalmology Vol. 8, No.1 (August 2000): pp 17-20. KEY WORDS: Primary eye care, ...

  10. Dexmedetomidine premedication in cataract surgery under topical ...

    African Journals Online (AJOL)

    Dexmedetomidine premedication in cataract surgery under topical anaesthesia: to assess patient and surgeon satisfaction. Poonam S Ghodkia*, Shalini P Sardesaia and Swapnagandha S Halikarb a Department of Anaesthesiology, Shrimati Kashibai Navale Medical College, Pune, India b Department of Ophthalmology, ...

  11. Cataract surgery following KAMRA presbyopic implant

    Directory of Open Access Journals (Sweden)

    Tan TE

    2013-09-01

    Full Text Available Tien-En Tan,1,2 Jodhbir S Mehta2–4 1Yong Loo Lin School of Medicine, National University of Singapore, Singapore; 2Singapore National Eye Centre, Singapore; 3Singapore Eye Research Institute, Singapore; 4Department of Clinical Sciences, Duke-NUS Graduate Medical School, Singapore Abstract: Intrastromal corneal inlays are an emerging treatment for presbyopic patients. The KAMRA™ small aperture inlay was the first such inlay to receive Conformité Européenne (CE marking in 2005. It has been shown to improve uncorrected near and intermediate visual acuity without adversely affecting uncorrected distance visual acuity. Due to the age of presbyopic patients, they may eventually develop cataracts. In two such cases, we found that cataract surgery with the KAMRA implant left in place was not technically more difficult, and that the surgical procedure could be improved by additional ocular rotations to improve visualization. Biometry readings were reliable, and it appeared that the SRK/T formula was accurate for calculation of intraocular lens power. Cataract surgery with the KAMRA implant left in situ is a viable option for patients. Keywords: cataract surgery, KAMRA, corneal inlay, AcuTarget, presbyopia

  12. clinical characteristics of cataract patients with pseudoexfoliation

    African Journals Online (AJOL)

    User

    BACKGROUND: Pseudoexfoliation is the most common identifiable cause of secondary glaucoma and pseudoexfoliation patients have higher rates of intraoperative and postoperative complications of cataract surgery compared to those without the condition. Hence, the objective of this study was to assess the clinical ...

  13. Comprehensive Management of Pediatric Cataract in Africa

    African Journals Online (AJOL)

    Keywords: Africa, cataract, lens aspiration, Nigeria, pediatric. Address for correspondence. Dr. Adedayo Omobolanle Adio, Department of Ophthalmology,. University of Port Harcourt Teaching Hospital, Port Harcourt,. Rivers State, Nigeria. E-mail: drdayoadio@yahoo.com. Access this article online. Quick Response Code.

  14. Cataract surgery outcomes in bangladeshi children.

    Science.gov (United States)

    Negretti, Guy S; Ayoub, Tariq; Ahmed, Sadeq; Deb, Riton; Majumder, Uttam; Jewel, Johurul; Muhit, Mohamed; Gilbert, Clare E; Bowman, Richard J C

    2015-05-01

    To measure visual acuity (VA) outcomes, complication rates, and the social impact of cataract surgery in a cohort who underwent surgery as children in Bangladesh. Case series. A total of 471 of 850 children from 6 Bangladeshi districts who had been identified as cataract blind using key informants (KIs) between 2004 and 2009 during the Bangladesh Childhood Cataract Campaign (BCCC) together with all those children not included in the BCCC database but in the Child Sight Foundation (CSF) database who had been identified as cataract blind. The subjects and families were contacted again by KIs and transported to local examination centers, where parents and subjects were administered a questionnaire and subjects underwent full ocular examination. Where operative data were available (15%), they were analyzed in conjunction with questionnaire and examination findings. Statistical analysis was performed using SPSS Statistics (IBM, Armonk, NY). Presenting and best-corrected visual acuities (BCVAs), cause(s) of poor outcome, postoperative refraction, and school attendance. A total of 407 of the participants had undergone bilateral surgery as children, with a mean follow-up of 8.8 years. The mean age at examination was 16 years (range, 5-28 years; standard deviation [SD], 4.6 years); 63% of those examined were male; 22% had a binocular presenting VA of >20/60; and 53% were severely visually impaired or blind (VA 20/60 in their better eye and 33% had VA visual outcome, indicating the need for earlier detection and treatment. This is the first study to show the link between pediatric cataract outcome and access to education, a millennium development goal. Copyright © 2015 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

  15. Cost-utility of routine cataract surgery

    Directory of Open Access Journals (Sweden)

    Ryynänen Olli-Pekka

    2006-09-01

    Full Text Available Abstract Background If decisions on health care spending are to be as rational and objective as possible, knowledge on cost-effectiveness of routine care is essential. Our aim, therefore, was to evaluate the cost-utility of routine cataract surgery in a real-world setting. Methods Prospective assessment of health-related quality of life (HRQoL of patients undergoing cataract surgery. 219 patients (mean (SD age 71 (11 years entering cataract surgery (in 87 only first eye operated, in 73 both eyes operated, in 59 first eye had been operated earlier filled in the 15D HRQoL questionnaire before and six months after operation. Direct hospital costs were obtained from a clinical patient administration database and cost-utility analysis performed from the perspective of the secondary care provider extrapolating benefits of surgery to the remaining statistical life-expectancy of the patients. Results Mean (SD utility score (on a 0–1 scale increased statistically insignificantly from 0.82 (0.13 to 0.83 (0.14. Of the 15 dimensions of the HRQoL instrument, only seeing improved significantly after operation. Mean utility score improved statistically significantly only in patients reporting significant or major preoperative seeing problems. Of the subgroups, only those whose both eyes were operated during follow-up showed a statistically significant (p Conclusion Mean utility gain after routine cataract surgery in a real-world setting was relatively small and confined mostly to patients whose both eyes were operated. The cost of cataract surgery per quality-adjusted life year gained was much higher than previously reported and associated with considerable uncertainty.

  16. Iris recognition as a biometric method after cataract surgery

    Directory of Open Access Journals (Sweden)

    Roizenblatt Jaime

    2004-01-01

    Full Text Available Abstract Background Biometric methods are security technologies, which use human characteristics for personal identification. Iris recognition systems use iris textures as unique identifiers. This paper presents an analysis of the verification of iris identities after intra-ocular procedures, when individuals were enrolled before the surgery. Methods Fifty-five eyes from fifty-five patients had their irises enrolled before a cataract surgery was performed. They had their irises verified three times before and three times after the procedure, and the Hamming (mathematical distance of each identification trial was determined, in a controlled ideal biometric environment. The mathematical difference between the iris code before and after the surgery was also compared to a subjective evaluation of the iris anatomy alteration by an experienced surgeon. Results A correlation between visible subjective iris texture alteration and mathematical difference was verified. We found only six cases in which the eye was no more recognizable, but these eyes were later reenrolled. The main anatomical changes that were found in the new impostor eyes are described. Conclusions Cataract surgeries change iris textures in such a way that iris recognition systems, which perform mathematical comparisons of textural biometric features, are able to detect these changes and sometimes even discard a pre-enrolled iris considering it an impostor. In our study, re-enrollment proved to be a feasible procedure.

  17. Iris recognition as a biometric method after cataract surgery.

    Science.gov (United States)

    Roizenblatt, Roberto; Schor, Paulo; Dante, Fabio; Roizenblatt, Jaime; Belfort, Rubens

    2004-01-28

    Biometric methods are security technologies, which use human characteristics for personal identification. Iris recognition systems use iris textures as unique identifiers. This paper presents an analysis of the verification of iris identities after intra-ocular procedures, when individuals were enrolled before the surgery. Fifty-five eyes from fifty-five patients had their irises enrolled before a cataract surgery was performed. They had their irises verified three times before and three times after the procedure, and the Hamming (mathematical) distance of each identification trial was determined, in a controlled ideal biometric environment. The mathematical difference between the iris code before and after the surgery was also compared to a subjective evaluation of the iris anatomy alteration by an experienced surgeon. A correlation between visible subjective iris texture alteration and mathematical difference was verified. We found only six cases in which the eye was no more recognizable, but these eyes were later reenrolled. The main anatomical changes that were found in the new impostor eyes are described. Cataract surgeries change iris textures in such a way that iris recognition systems, which perform mathematical comparisons of textural biometric features, are able to detect these changes and sometimes even discard a pre-enrolled iris considering it an impostor. In our study, re-enrollment proved to be a feasible procedure.

  18. Hereditary sensory neuropathy type I

    Science.gov (United States)

    Auer-Grumbach, Michaela

    2008-01-01

    Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset. The exact prevalence is unknown, but is estimated as very low. Disease onset varies between the 2nd and 5th decade of life. The main clinical feature of HSN I is the reduction of sensation sense mainly distributed to the distal parts of the upper and lower limbs. Variable distal muscle weakness and wasting, and chronic skin ulcers are characteristic. Autonomic features (usually sweating disturbances) are invariably observed. Serious and common complications are spontaneous fractures, osteomyelitis and necrosis, as well as neuropathic arthropathy which may even necessitate amputations. Some patients suffer from severe pain attacks. Hypacusis or deafness, or cough and gastrooesophageal reflux have been observed in rare cases. HSN I is a genetically heterogenous condition with three loci and mutations in two genes (SPTLC1 and RAB7) identified so far. Diagnosis is based on the clinical observation and is supported by a family history. Nerve conduction studies confirm a sensory and motor neuropathy predominantly affecting the lower limbs. Radiological studies, including magnetic resonance imaging, are useful when bone infections or necrosis are suspected. Definitive diagnosis is based on the detection of mutations by direct sequencing of the SPTLC1 and RAB7 genes. Correct clinical assessment and genetic confirmation of the diagnosis are important for appropriate genetic counselling and prognosis. Differential diagnosis includes the other hereditary sensory and autonomic neuropathies (HSAN), especially HSAN II, as well as diabetic foot syndrome, alcoholic neuropathy, neuropathies caused by other neurotoxins/drugs, immune mediated neuropathy, amyloidosis, spinal cord diseases, tabes dorsalis, lepra neuropathy, or decaying skin

  19. Hereditary sensory neuropathy type I

    Directory of Open Access Journals (Sweden)

    Auer-Grumbach Michaela

    2008-03-01

    Full Text Available Abstract Hereditary sensory neuropathy type I (HSN I is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset. The exact prevalence is unknown, but is estimated as very low. Disease onset varies between the 2nd and 5th decade of life. The main clinical feature of HSN I is the reduction of sensation sense mainly distributed to the distal parts of the upper and lower limbs. Variable distal muscle weakness and wasting, and chronic skin ulcers are characteristic. Autonomic features (usually sweating disturbances are invariably observed. Serious and common complications are spontaneous fractures, osteomyelitis and necrosis, as well as neuropathic arthropathy which may even necessitate amputations. Some patients suffer from severe pain attacks. Hypacusis or deafness, or cough and gastrooesophageal reflux have been observed in rare cases. HSN I is a genetically heterogenous condition with three loci and mutations in two genes (SPTLC1 and RAB7 identified so far. Diagnosis is based on the clinical observation and is supported by a family history. Nerve conduction studies confirm a sensory and motor neuropathy predominantly affecting the lower limbs. Radiological studies, including magnetic resonance imaging, are useful when bone infections or necrosis are suspected. Definitive diagnosis is based on the detection of mutations by direct sequencing of the SPTLC1 and RAB7 genes. Correct clinical assessment and genetic confirmation of the diagnosis are important for appropriate genetic counselling and prognosis. Differential diagnosis includes the other hereditary sensory and autonomic neuropathies (HSAN, especially HSAN II, as well as diabetic foot syndrome, alcoholic neuropathy, neuropathies caused by other neurotoxins/drugs, immune mediated neuropathy, amyloidosis, spinal cord diseases, tabes dorsalis, lepra

  20. Cx43, ZO-1, alpha-catenin and beta-catenin in cataractous lens ...

    Indian Academy of Sciences (India)

    Specimens of the anterior lens capsule with an attached monolayer of lens epithelial cells (LECs) were obtained from patients (=52) undergoing cataract surgery. Specimens were divided into three groups based on the type of cataract: nuclear cataract, cortical cataract and posterior subcapsular cataract (PSC).

  1. Hereditary Predispositions to Myelodysplastic Syndrome

    Directory of Open Access Journals (Sweden)

    Sarah A. Bannon

    2016-05-01

    Full Text Available Myelodysplastic syndromes (MDS are heterogeneous clonal hematopoietic disorders characterized by ineffective hematopoiesis, bone marrow dysplasia, and peripheral cytopenias. Familial forms of MDS have traditionally been considered rare, especially in adults; however, the increasing availability of somatic and germline genetic analyses has identified multiple susceptibility loci. Bone marrow failure syndromes have been well-described in the pediatric setting, e.g., Fanconi anemia (FA, dyskeratosis congenita (DC, Diamond–Blackfan anemia (DBA, and Shwachman–Diamond syndrome (SBS, hallmarked by clinically-recognizable phenotypes (e.g., radial ray anomalies in FA and significantly increased risks for MDS and/or acute myeloid leukemia (AML in the setting of bone marrow failure. However, additional families with multiple cases of MDS or AML have long been reported in the medical literature with little known regarding potential hereditary etiologies. Over the last decade, genomic investigation of such families has revealed multiple genes conferring inherited risks for MDS and/or AML as the primary malignancy, including RUNX1, ANKRD26, DDX41, ETV6, GATA2, and SRP72. As these syndromes are increasingly appreciated in even apparently de novo presentations of MDS, it is important for hematologists/oncologists to become familiar with these newly-described syndromes. Herein, we provide a review of familial MDS syndromes and practical aspects of management in patients with predisposition syndromes.

  2. Reaction time as a measure of enhanced blue-light mediated cognitive function following cataract surgery.

    Science.gov (United States)

    Schmoll, Conrad; Tendo, Christelle; Aspinall, Peter; Dhillon, Bal

    2011-12-01

    Since 2002 the discovery of a novel population of intrinsically photosensitive retinal ganglion cells, expressing the photopigment melanopsin, has attracted broad interest in human blue-light mediated non-visual effects including circadian regulation and cognitive function. Ageing is associated with insomnia and cognitive decline. It has been postulated that reduced blue-light transmission through the formation of cataract impairs melanopsin dependant non-visual brain responses mediated by intrinsically photosensitive retinal ganglion cells. We aimed to establish if any objective improvement in cognition could be demonstrated using a reaction time task (RTT) following cataract surgery and intraocular lens implantation. Following strict inclusion and exclusion criteria, 15 patients (age range 59-87, mean 75.4 years) with bilateral cataract performed the RTT before and after surgery on one eye. The mean and the SD of two modalities of reaction time, namely complex reaction time and simple reaction time, were measured and analysed. Responses became both quicker and more consistent following surgery, with statistically significant improvements in the complex reaction time (p=0.016) and the complex reaction time SD (p=0.055), which were not due to a learning effect or improved vision. The results suggest that improved blue-light transmission following cataract surgery has a beneficial effect on cognitive function. We advocate the RTT as an objective platform for exploring these benefits in large sample randomised controlled trials.

  3. Contribution of Cholesterol and Oxysterols in the Physiopathology of Cataract: Implication for the Development of Pharmacological Treatments

    Directory of Open Access Journals (Sweden)

    Anne Vejux

    2011-01-01

    Full Text Available The development of cataract is associated with some lipid changes in human lens fibers, especially with increased accumulation and redistribution of cholesterol inside these cells. Some direct and indirect lines of evidence, also suggest an involvement of cholesterol oxide derivatives (also named oxysterols in the development of cataract. Oxysterol formation can result either from nonenzymatic or enzymatic processes, and some oxysterols can induce a wide range of cytotoxic effects (overproduction of reactive oxygen species (ROS; phospholipidosis which might contribute to the initiation and progression of cataract. Thus, the conception of molecules capable of regulating cholesterol homeostasia and oxysterol levels in human lens fibers can have some interests and constitute an alternative to surgery at least at early stages of the disease.

  4. Maximising safety of cataract surgery training: improving patient safety by reducing cataract surgery complication rates.

    Science.gov (United States)

    Goh, E-Shawn

    2009-01-01

    Cataract surgery is a highly successful, high-volume surgery, hence reducing surgical complications are imperative for organizations to deliver cost-effective, high-quality services that meet the needs of patients. This paper aims to describe 18-month results of a sustainable program to maximize the safety of cataract surgery training. Modifications to the comprehensive cataract-training program and tested were developed in a controlled, interventional case series to evaluate their effect on trainee complication rates. Data collection and interpretation were performed in a prospective and blind manner. Prior to intervention, PCR rates for trainee-surgeons averaged 3.34 per cent cf international published figures of 4.6-10 per cent. This compared with 1.89 per cent PCR rate for trained cataract surgeons (p safety. After 18 months follow-up data were consistent with a statistically significant reduction in trainee PCR rates (1.53 per cent, p goals can be extrapolated to other surgical disciplines. This is the first study to demonstrate maximally safe and effective cataract surgery training in a large patient group, over sustained periods.

  5. Laser-assisted cataract surgery and other emerging technologies for cataract removal

    Directory of Open Access Journals (Sweden)

    Aasuri Murali

    1999-01-01

    Full Text Available As we near the end of this century, refractive cataract surgery has become a reality through concerted contributions from ultrasonic phacoemulsification, foldable intraocular lens (IOL implantation technology and keratorefractive surgery. As we enter the new millennium, our sights are set on realizing another dream: accommodative IOL surgery. Towards achieving this goal, many advances have been made in both techniques and technology of cataract removal. Lasers in particular have been under investigation for cataract removal for nearly two decades. The technology has now reached a stage where cataract can indeed be removed entirely with laser alone. Neodymium:YAG and erbium:YAG are the laser sources currently utilized by manufacturers of laser phaco systems. Initial clinical experience reported in the literature has served to highlight the capabilities of lasers and the need for further refinement. Despite the excitement associated with the availability of this alluring new technology for cataract removal, it is necessary to develop more effective laser systems and innovative surgical techniques that optimize its capabilities if laser phaco surgery is to be a genuine improvement over current techniques.

  6. Management of residual refractive error after cataract surgery.

    Science.gov (United States)

    Alio, Jorge L; Abdelghany, Ahmed A; Fernández-Buenaga, Roberto

    2014-07-01

    To provide a review of the recent literature on the management of residual refractive error after cataract surgery. Laser in-situ keratomileusis (LASIK) is the most accurate procedure to correct residual refractive error after cataract surgery. Lens-based procedures, such as intraocular lens (IOL) exchange or piggyback lens implantation, are also possible alternatives in cases with extreme ametropia, corneal abnormalities, or in situations where excimer laser is not available. In this review, we found that Piggyback IOL were safer and more accurate than IOL exchange. Emmetropia is our main target today in modern cataract surgery. Accurate biometric analysis, selection and calculation of the adequate IOL, and modern techniques for cataract surgery all help surgeons to move toward the goal of cataract surgery as a refractive procedure free from refractive error. However, in spite of all these inputs, residual refractive error still occasionally occurs after cataract surgery and LASIK seems to be the most accurate method for its correction.

  7. Bilateral cataracts associated with glucose-6-phosphate dehydrogenase deficiency.

    Science.gov (United States)

    Nair, V; Hasan, S U; Romanchuk, K; Al Awad, E; Mansoor, A; Yusuf, K

    2013-07-01

    Glucose-6-phosphate dehydrogenase (G6PD) has an essential role in the defense against cellular oxidative injury. In neonates, the most common manifestation of G6PD deficiency is jaundice and hemolysis due to factors causing oxidative stress. Less known are the ocular associations described with G6PD deficiency, including cataracts. Oxidative injury is involved in the pathogenesis of almost all forms of cataracts, causing the lens proteins to undergo modifications, denaturation and form insoluble aggregates resulting in cataracts. Although cataracts in adult males have been reported in several studies, there are few reports of cataracts in infants with G6PD deficiency. We describe a preterm male neonate with G6PD deficiency who developed bilateral cataracts following an episode of neonatal sepsis and severe hemolysis necessitating an exchange blood transfusion.

  8. Influence factors of visual quality after phacoemulsification for cataract

    Directory of Open Access Journals (Sweden)

    Zhen-Lin Lin

    2017-12-01

    Full Text Available Cataract refers to the degenerative changes in lens quality caused by various causes of reduced transparency or color change. Surgical treatment is the main treatment modality at present. Among them, phacoemulsification has become the main surgical treatment for cataract because of its advantages such as short operation time, small incision and quicker healing. Today, cataract surgery has gradually shift to refractive surgery, and is no longer simply as cataract surgery. But after cataract phacoemulsification, the symptoms and visual quality are different. The main causes include refractive error, postoperative dry eyes and postoperative corneal astigmatism. This article reviews the factors that influence the visual quality of cataract phacoemulsification and its future trends.

  9. Early development of selenium-induced cataract: slit lamp evaluation.

    Science.gov (United States)

    Shearer, T R; Anderson, R S; Britton, J L; Palmer, E A

    1983-06-01

    The purpose of our research was to document early lenticular changes preceding cataract formation in rats receiving an elevated dose of selenium. The following stages were observed after selenium injection: Stage 1 (13-24 hr post-injection), formation of posterior equatorial subcapsular cataract (PESC); Stage 2 (24-72 hr), decline of the PESC, development of a prominent 'washer' shaped change in the refraction of the cortex, and first appearance of swollen fibers around the nucleus; Stage 3 (three to five days), appearance of bilateral dense central nuclear cataracts and further development of perinuclear swollen fibers; Stage 4 (five to 10 days), some nuclear cataracts became more opaque and/or angular. The results are consistent with the hypothesis that the initial site of action of selenium in nuclear cataract formation is not in the lens nucleus. Rather, selenium causes early changes outside the nucleus, which are followed by nuclear cataracts.

  10. Late-onset Leber hereditary optic neuropathy.

    Science.gov (United States)

    Pfeiffer, Margaret L; Hashemi, Nafiseh; Foroozan, Rod; Lee, Andrew G

    2013-01-01

    While Leber hereditary optic neuropathy typically causes bilateral visual loss in the second through fourth decades, we highlight visual loss from Leber hereditary optic neuropathy in older patients to characterize the clinical features of this cohort. Retrospective case series. Patients seen between January 2003 and July 2012 at Baylor College of Medicine and between April 2010 and July 2012 at The Methodist Hospital in Houston, Texas. Patients with visual loss from genetically confirmed Leber hereditary optic neuropathy were identified via retrospective chart review. Clinical courses of patients. Five patients with visual loss from genetically confirmed Leber hereditary optic neuropathy were greater than 60 years of age at the time of visual loss (range 62-70 years, mean 66.4 ± 3.0). This series reinforces the importance of including Leber hereditary optic neuropathy in the differential diagnosis of patients of any age with optic neuropathy. © 2013 The Authors. Clinical and Experimental Ophthalmology © 2013 Royal Australian and New Zealand College of Ophthalmologists.

  11. Managing residual refractive error after cataract surgery.

    Science.gov (United States)

    Sáles, Christopher S; Manche, Edward E

    2015-06-01

    We present a review of keratorefractive and intraocular approaches to managing residual astigmatic and spherical refractive error after cataract surgery, including laser in situ keratomileusis (LASIK), photorefractive keratectomy (PRK), arcuate keratotomy, intraocular lens (IOL) exchange, piggyback IOLs, and light-adjustable IOLs. Currently available literature suggests that laser vision correction, whether LASIK or PRK, yields more effective and predictable outcomes than intraocular surgery. Piggyback IOLs with a rounded-edge profile implanted in the sulcus may be superior to IOL exchange, but both options present potential risks that likely outweigh the refractive benefits except in cases with large residual spherical errors. The light-adjustable IOL may provide an ideal treatment to pseudophakic ametropia by obviating the need for secondary invasive procedures after cataract surgery, but it is not widely available nor has it been sufficiently studied. Copyright © 2015 ASCRS and ESCRS. Published by Elsevier Inc. All rights reserved.

  12. Cataract phacoemulsification and corneal endothelial cell damage

    Directory of Open Access Journals (Sweden)

    Ni Zhu

    2013-07-01

    Full Text Available Phacoemulsification with small incision, reduced number of inflammation cells, and better postoperative recovery has been recognized as the world's most popular option for cataract surgery. Modern cataract surgery is developing gradually from sight rehabilitating to refractive surgery with better vision acuity. Being the most important part of the eye refractive system, maintenance of the cornea's transparency relies heavily upon the healthy endothelial cells. It is well known that there will be endothelial cell loss after phacoemulsification and the damage of the endothelial cells may lead to corneal swellings and opacity, or even the corneal descompensation, which often severely influenced the postoperative vision recovery. This is a review of phacoemulsification and the risk factors of corneal endothelial damage pre-and postoperation.

  13. Atypical case of ocular hemosiderosis: leopard cataract.

    Science.gov (United States)

    Masket, Samuel; Ceran, Basak Bostanci

    2011-10-01

    We present an interventional case report of an 83-year-old woman who developed ocular hemosiderosis secondary to massive retinal and intravitreal bleeding associated with a choroidal neovascular membrane as a result of age-related macular degeneration. Anterior segment manifestations included low-grade inflammation, posterior synechiae, reversible hyperchromic heterochromia, and a mature cataract with "leopard spots." The longstanding vitreous hemorrhage was thought to be the etiology of these findings. At the request of the vitreoretinal surgeon, cataract surgery was performed to provide visualization of the posterior segment. However, the patient's visual potential was limited by her underlying retinal pathology. Neither author has a financial or proprietary interest in any material or method mentioned. Additional disclosure is found in the footnotes. Copyright © 2011 ASCRS and ESCRS. Published by Elsevier Inc. All rights reserved.

  14. Maximal mydriasis evaluation in cataract surgery

    Directory of Open Access Journals (Sweden)

    Ho Tony

    1992-01-01

    Full Text Available We propose the Maximal Mydriasis Test (MMT as a simple and safe means to provide the cataract surgeon with objective and dependable pre-operative information on the idiosyncratic mydriatic response of the pupil. The MMT results of a consecutive series of 165 eyes from 100 adults referred for cataract evaluation are presented to illustrate its practical applications and value. The results of the MMT allows the surgeon to anticipate problem eyes pre-operatively so that he can plan his surgical strategy more appropriately and effectively. Conversely, the surgeon can also appropriately and confidently plan surgical procedures where wide pupillary dilation is important. The MMT has also helped improve our cost-effectiveness by cutting down unnecessary delays in the operating room and enabling better utilisation of restricted costly resources.

  15. [Correlation between Alzheimer disease and cataract].

    Science.gov (United States)

    Liu, S S; Zhu, S Q

    2017-04-11

    Alzheimer disease (AD) is a progressive neurodegenerative disease and is a leading cause of dementia among elders. In the early phase of AD, even if neuropathological changes presented, but little to none clinical symptoms were found. Therefore, it is difficult to diagnose AD in the beginning of the disease. It is vital to find a noninvasive way for both diagnose and prognosis of AD. Studies have found that β-amyloid (Aβ) works as a connection between AD and cataract. This review will discuss AD and its associated markers which may be present in the lens and cataract related AD to provide more basis for early diagnosis of AD. (Chin J Ophthalmol, 2017, 53: 314-316).

  16. Surgical simulators in cataract surgery training.

    Science.gov (United States)

    Sikder, Shameema; Tuwairqi, Khaled; Al-Kahtani, Eman; Myers, William G; Banerjee, Pat

    2014-02-01

    Virtual simulators have been widely implemented in medical and surgical training, including ophthalmology. The increasing number of published articles in this field mandates a review of the available results to assess current technology and explore future opportunities. A PubMed search was conducted and a total of 10 articles were reviewed. Virtual simulators have shown construct validity in many modules, successfully differentiating user experience levels during simulated phacoemulsification surgery. Simulators have also shown improvements in wet-lab performance. The implementation of simulators in the residency training has been associated with a decrease in cataract surgery complication rates. Virtual reality simulators are an effective tool in measuring performance and differentiating trainee skill level. Additionally, they may be useful in improving surgical skill and patient outcomes in cataract surgery. Future opportunities rely on taking advantage of technical improvements in simulators for education and research.

  17. Serum 25-hydroxyvitamin D and Age-Related Cataract.

    Science.gov (United States)

    Park, Sangshin; Choi, Nam-Kyong

    2017-10-01

    Cataract and insufficient vitamin D intake are both increasing worldwide concerns, yet little is known about the relationship between serum 25-hydroxyvitamin D (25(OH)D) levels and age-related cataract. We performed this study to determine the association between serum 25(OH)D levels and age-related cataract in adults. Study participants comprised 16,086 adults aged 40 years or older who had never been diagnosed with or undergone surgery for cataract using Korean National Health and Nutrition Examination Survey data from 2008 to 2012. Participants were assessed to have cataract when diagnosed with cortical, nuclear, anterior subcapsular, posterior subcapsular, or mixed cataract. Odds ratios (ORs) and 95% confidence intervals (CIs) were used to evaluate the magnitude and significance of the association between serum 25(OH)D levels and cataract in multivariable logistic regression models. The OR for nuclear cataract with the highest quintile of serum 25(OH)D levels was 0.86 (95% CI 0.75-0.99) compared to the lowest quintile. A linear trend across quintiles was significant. Natural log-transformed serum 25(OH)D levels were also significantly associated with nuclear cataract (OR 0.84, 95% CI 0.75-0.95). The opulation-attributable fraction of nuclear cataract due to serum 25(OH)D insufficiency (D levels were inversely associated with the risk of nuclear cataract. Prospective studies investigating the effects of serum 25(OH)D levels on the development of nuclear cataract are needed to confirm our findings.

  18. Editorial: Improving cataract outcomes through good postoperative care

    Directory of Open Access Journals (Sweden)

    Nick Astbury

    2016-10-01

    Full Text Available Cataract surgery is one of the most successful and frequently performed operations worldwide, and yet cataract remains the commonest cause of global blindness. This is in part due to the shortage and uneven distribution of trained personnel in some countries. More worryingly, a high rate of cataract blindness also reflects poor visual outcomes after surgery, as has been documented in many RAAB (rapid assessment of avoidable blindness studies.

  19. Outcomes of Surgery for Posterior Polar Cataract Using Torsional Ultrasound

    OpenAIRE

    Selçuk Sızmaz; Aysel Pelit

    2013-01-01

    Purpose: The aim of this study is to report outcomes of surgery for posterior polar cataract using torsional ultrasound. Material and Method: Medical records of 26 eyes of 21 consecutive patients with posterior polar cataract who had cataract surgery using the torsional phacoemulsification were evaluated retrospectively. The surgical procedure used, phacoemulsification parameters, intraoperative complications, and postoperative visual outcome were recorded. Results: Of the 26 eyes...

  20. Genetics Home Reference: distal hereditary motor neuropathy, type V

    Science.gov (United States)

    ... neuropathy, type V Distal hereditary motor neuropathy, type V Printable PDF Open All Close All Enable Javascript ... collapse boxes. Description Distal hereditary motor neuropathy, type V is a progressive disorder that affects nerve cells ...

  1. The Korean Hereditary Breast Cancer Study: Review and Future Perspectives

    National Research Council Canada - National Science Library

    Kang, Eunyoung; Kim, Sung-Won

    2013-01-01

    .... In 2007, the Korean Hereditary Breast Cancer (KOHBRA) Study was established to obtain evidence for the accurate risk assessment and management of hereditary breast and ovarian cancer (HBOC) in Korea...

  2. [Quality control of DNA testing in hereditary diseases

    NARCIS (Netherlands)

    Ouweland, A.M.W. van den; Scheffer, H.

    2001-01-01

    The laboratories performing diagnostic studies regarding hereditary diseases and the specialists providing hereditary counselling are housed in clinical genetic centres. The laboratories are subject to the Special Medical Performances Act and have had licenses from the Ministry. The DNA diagnostic

  3. Explicit criteria for prioritization of cataract surgery

    Directory of Open Access Journals (Sweden)

    Escobar Antonio

    2006-03-01

    Full Text Available Abstract Background Consensus techniques have been used previously to create explicit criteria to prioritize cataract extraction; however, the appropriateness of the intervention was not included explicitly in previous studies. We developed a prioritization tool for cataract extraction according to the RAND method. Methods Criteria were developed using a modified Delphi panel judgment process. A panel of 11 ophthalmologists was assembled. Ratings were analyzed regarding the level of agreement among panelists. We studied the effect of all variables on the final panel score using general linear and logistic regression models. Priority scoring systems were developed by means of optimal scaling and general linear models. The explicit criteria developed were summarized by means of regression tree analysis. Results Eight variables were considered to create the indications. Of the 310 indications that the panel evaluated, 22.6% were considered high priority, 52.3% intermediate priority, and 25.2% low priority. Agreement was reached for 31.9% of the indications and disagreement for 0.3%. Logistic regression and general linear models showed that the preoperative visual acuity of the cataractous eye, visual function, and anticipated visual acuity postoperatively were the most influential variables. Alternative and simple scoring systems were obtained by optimal scaling and general linear models where the previous variables were also the most important. The decision tree also shows the importance of the previous variables and the appropriateness of the intervention. Conclusion Our results showed acceptable validity as an evaluation and management tool for prioritizing cataract extraction. It also provides easy algorithms for use in clinical practice.

  4. Cataract influence on iris recognition performance

    Science.gov (United States)

    Trokielewicz, Mateusz; Czajka, Adam; Maciejewicz, Piotr

    2014-11-01

    This paper presents the experimental study revealing weaker performance of the automatic iris recognition methods for cataract-affected eyes when compared to healthy eyes. There is little research on the topic, mostly incorporating scarce databases that are often deficient in images representing more than one illness. We built our own database, acquiring 1288 eye images of 37 patients of the Medical University of Warsaw. Those images represent several common ocular diseases, such as cataract, along with less ordinary conditions, such as iris pattern alterations derived from illness or eye trauma. Images were captured in near-infrared light (used in biometrics) and for selected cases also in visible light (used in ophthalmological diagnosis). Since cataract is a disorder that is most populated by samples in the database, in this paper we focus solely on this illness. To assess the extent of the performance deterioration we use three iris recognition methodologies (commercial and academic solutions) to calculate genuine match scores for healthy eyes and those influenced by cataract. Results show a significant degradation in iris recognition reliability manifesting by worsening the genuine scores in all three matchers used in this study (12% of genuine score increase for an academic matcher, up to 175% of genuine score increase obtained for an example commercial matcher). This increase in genuine scores affected the final false non-match rate in two matchers. To our best knowledge this is the only study of such kind that employs more than one iris matcher, and analyzes the iris image segmentation as a potential source of decreased reliability

  5. Cataract and its surgery in Fiji.

    Science.gov (United States)

    Brian, Garry; Ramke, Jacqueline; Szetu, John; Qoqonokana, Mundi Qalo

    2011-07-01

    To characterize cataract and its surgery among adults aged ≥40 years in Fiji. Population-based cross-sectional survey using multistage cluster random sampling. 1381 (= 73.0% participation); eight provinces on Viti Levu. Interview-based questionnaire; visual acuity measured; autorefraction; dilated ocular examination. Prevalence; predictors; surgical outcomes. Being Indian (P = 0.001), elderly (P Fiji population aged ≥40 years, prevalence of cataract-induced low vision and blindness were each 1.7% (95% confidence interval [CI] 1.0-2.4%). At least one eye of 4.6% and both of 1.8% participants had surgery (86.4% extracapsular). Gender (P = 0.213), age (P = 0.472) and rural/urban domicile (P = 0.895) were not predictors of surgery among those who required it in at least one eye. After intraocular lens surgery: 50.7% had pupillary posterior capsular opacification; mean spherical equivalent was -1.37 ± 1.95D (range, -6.38 to +2.25D); mean cylindrical error was 2.31 ± 1.75D (range, 0.0 to 8.75D); ≥N8 for 39.5%; ≥6/18 for 56.6%; Fiji population aged ≥40 years, Cataract Surgical Coverage (Person) was 47.5% (95%CI 29.2-65.8%) at Fiji cataract services and outcomes compare favourably with those of neighbouring Papua New Guinea and Timor Leste. © 2011 The Authors. Clinical and Experimental Ophthalmology © 2011 Royal Australian and New Zealand College of Ophthalmologists.

  6. Combined surgery versus cataract surgery alone for eyes with cataract and glaucoma

    Science.gov (United States)

    Zhang, Mingjuan Lisa; Hirunyachote, Phenpan; Jampel, Henry

    2016-01-01

    Background Cataract and glaucoma are leading causes of blindness worldwide, and their co-existence is common in elderly people. Glaucoma surgery can accelerate cataract progression, and performing both surgeries may increase the rate of postoperative complications and compromise the success of either surgery. However, cataract surgery may independently lower intraocular pressure (IOP), which may allow for greater IOP control among patients with co-existing cataract and glaucoma. The decision between undergoing combined glaucoma and cataract surgery versus cataract surgery alone is complex. Therefore, it is important to compare the effectiveness of these two interventions to aid clinicians and patients in choosing the better treatment approach. Objectives To assess the relative effectiveness and safety of combined surgery versus cataract surgery (phacoemulsification) alone for co-existing cataract and glaucoma. The secondary objectives include cost analyses for different surgical techniques for co-existing cataract and glaucoma. Search methods We searched CENTRAL (which contains the Cochrane Eyes and Vision Group Trials Register) (2014, Issue 10), Ovid MEDLINE, Ovid MEDLINE In-Process and Other Non-Indexed Citations, Ovid MEDLINE Daily, Ovid OLDMEDLINE (January 1946 to October 2014), EMBASE (January 1980 to October 2014), PubMed (January 1948 to October 2014), Latin American and Caribbean Health Sciences Literature Database (LILACS) (January 1982 to October 2014), the metaRegister of Controlled Trials (mRCT) (www.controlled-trials.com), ClinicalTrials.gov (www.clinicaltrials.gov), and the World Health Organization (WHO) International Clinical Trials Registry Platform (ICTRP) (www.who.int/ictrp/search/en). We did not use any date or language restrictions in the electronic searches for trials. We last searched the electronic databases on 3 October 2014. We checked the reference lists of the included trials to identify further relevant trials. We used the Science

  7. Genetic etiology of hereditary colorectal cancer: new mechanisms and advanced mutation detection techniques

    NARCIS (Netherlands)

    Gazzoli, I.

    2006-01-01

    The human DNA mismatch repair (MMR) system functions to repair mispaired bases in DNA that result from DNA replication errors and thereby prevents the accumulation of mutations due to such replication errors. Hereditary nonpolyposis colorectal cancer (HNPCC), the most common form of inherited colon

  8. SDHAF2 (PGL2-SDH5) and hereditary head and neck paraganglioma

    NARCIS (Netherlands)

    Kunst, H.P.M.; Rutten, M.H.; Monnink, J.P. de; Hoefsloot, L.H.; Timmers, H.J.L.M.; Marres, H.A.M.; Jansen, J.C.; Kremer, J.M.J.; Bayley, J.P.M.; Cremers, C.W.R.J.

    2011-01-01

    PURPOSE: Hereditary head and neck paraganglioma (HNPGL) syndromes are associated with mutations in the SDHD(PGL1), SDHC(PGL3), and SDHB(PGL4) genes encoding succinate dehydrogenase subunits. We recently described mutations in a previously uncharacterized human gene, now called SDHAF2, and showed

  9. The congenital cataract-linked A2V mutation impairs tetramer formation and promotes aggregation of βB2-crystallin.

    Directory of Open Access Journals (Sweden)

    Jia Xu

    Full Text Available β/γ-Crystallins, the major structural proteins in human lens, are highly conserved in their tertiary structures but distinct in the quaternary structures. The N- and C-terminal extensions have been proposed to play a crucial role in mediating the size of β-crystallin assembly. In this research, we investigated the molecular mechanism underlying the congenital hereditary cataract caused by the recently characterized A2V mutation in βB2-crystallin. Spectroscopic experiments indicated that the mutation did not affect the secondary and tertiary structures of βB2-crystallin. The mutation did not affect the formation of βB2/βA3-crystallin heteromer as well as the stability and folding of the heteromer, suggesting that the mutation might not interfere with the protein interacting network in the lens. However, the tetramerization of βB2-crystallin at high protein concentrations was retarded by the A2V mutation. The mutation slightly decreased the thermal stability and promoted the thermal aggregation of βB2-crystallin. Although it did not influence the stability of βB2-crystallin against denaturation induced by chemical denaturants and UV irradiation, the A2V mutant was more prone to be trapped in the off-pathway aggregation process during kinetic refolding. Our results suggested that the A2V mutation might lead to injury of lens optical properties by decreasing βB2-crystallin stability against heat treatment and by impairing βB2-crystallin assembly into high-order homo-oligomers.

  10. Cataract surgery after pars plana vitrectomy.

    Science.gov (United States)

    Shousha, Mohamed Abou; Yoo, Sonia H

    2010-01-01

    To review recent studies and advances and their possible implications in the care of patients undergoing cataract surgery after pars plana vitrectomy. Optical biometry has shown to be superior to ultrasound biometry in vitrectomized eyes but still not achieving as good results as it does in nonvitrectomized eyes. Blue light-filter intraocular lenses, with their possible advantage of macular protection, have shown no operative or functional disadvantages in vitrectomized eyes, and thus their routine use can be justified. However, presbyopia-correcting intraocular lenses, at least at their current stage of development, generally, are still not accepted for vitrectomized eyes. Combining cataract surgery with intravitreal injections of bevacizumab or triamcinolone acetonide in patients with macular edema and cataract is advisable to avoid exacerbation of the condition and improve visual outcome. Despite the recent advances, incidences of posterior capsular opacification and retinal detachment are still considerable. Understanding ocular anatomical alterations imposed by the previous pars plana vitrectomy surgery and the underlying vitreoretinal disease will allow the surgeon to address the special challenges. Despite that, recent advances in techniques and instrumentation have improved the surgical safety and outcomes, reported complications rates are still relatively high.

  11. Methylphenidate (Ritalin-associated Cataract and Glaucoma

    Directory of Open Access Journals (Sweden)

    Chao-Kung Lu

    2006-12-01

    Full Text Available Methylphenidate hydrochloride (Ritalin is the drug of choice for attention deficit hyperactivity disorder (ADHD. However, an association of Ritalin with glaucoma has been reported. We report a case of Ritalin-associated cataract and glaucoma. A 10-year-old boy was diagnosed with ADHD and had received methylphenidate hydrochloride, 60 mg/day for 2 years. He presented with blurred vision. Best-corrected visual acuity was 6/60 in both eyes. Ocular examinations revealed intraocular pressure (IOP of 30 mmHg under medication, dense posterior subcapsular opacity of lens, pale disc with advanced cupping, and marked constriction of visual field. Despite maximal anti-glaucomatous medication, IOP still could not be controlled. The patient then received combined cataract and glaucoma surgery. Visual acuity improved and IOP was within normal limits in both eyes postoperatively. Large dose of methylphenidate may cause cataract and glaucoma. The mechanism remains unclear. Doctors should be aware of the possible ocular side effects of methylphenidate.

  12. Measuring aniseikonia using scattering filters to simulate cataract

    Science.gov (United States)

    Wilson, Jason

    2011-12-01

    The relationship between anisometropia and aniseikonia (ANK) is not well understood. Ametropic cataract patients provide a unique opportunity to study this relationship after undergoing emmetropizing lens extraction. Because light scatter may affect ANK measurement in cataract patients, its effect should also be evaluated. The Basic Aniseikonia Test (BAT) was evaluated using afocal size lenses to produce specific changes in retinal height. Several light scattering devices were then evaluated to determine which produced effects most similar to cataract. Contrast sensitivity and visual acuity (VA) losses were measured with each device and compared to those reported in cataract. After determining the most appropriate light scattering device, twenty healthy patients with normal visual function were recruited to perform the BAT using the filters to simulate cataract. Cataract patients were recruited from Vision America and the University of Alabama at Birmingham School of Optometry. Patients between 20 and 75 years of age with at least 20/80 VA in each eye, ≥ 2D ametropia, and normal binocular function were recruited. Stereopsis and ANK were tested and each patient completed a symptom questionnaire. ANK measurements using afocal size lenses indicated that the BAT underestimates ANK, although the effect was minimal for vertical targets and darkened surroundings, as previously reported. Based on VA and contrast sensitivity loss, Vistech scattering filters produced changes most similar to cataract. Results of the BAT using Vistech filters demonstrated that a moderate cataract but not a mild cataract may affect the ANK measurement. ANK measurements on cataract patients indicated that those with ≥ 2 D ametropia in each eye may suffer from induced ANK after the first cataract extraction. With upcoming healthcare reform, unilateral cataract extraction may be covered, but not necessarily bilateral, depending on patient VA in each eye. However, a questionnaire about symptoms

  13. Selenite-induced epithelial damage and cortical cataract.

    Science.gov (United States)

    Anderson, R S; Shearer, T R; Claycomb, C K

    1986-01-01

    The purposes of these experiments were 1) to measure microscopic changes in the epithelium associated with selenite cataract, and 2) to describe the formation and subsequent clearing of selenite cortical cataract. Fourteen-day old suckling rat pups received a single subcutaneous injection of an overdose of sodium selenite at 2.25 mg Se/kg b.w. Development of cortical cataract was observed by biomicroscopy, and changes in epithelium were studied by light microscopy of flat-mounted lens epithelia. Selenite administration caused cortical cataract 15-30 days after injection in addition to previously characterized nuclear cataract. The cortical cataract progressed through equatorial vacuolization, opacity, and finally clearing of the cataract. Mitosis was suppressed and karyorrhexis was observed in the germinative zone of the epithelium 5 hours after selenite injection. Pathological disorganization of the epithelium followed. Changes included vacuolization, loss of meridional rows, and defective fiber formation. Restoration of epithelial morphology was associated with clearing of cortical opacity. Epithelial damage at 5 hours was the earliest change yet recorded for selenite cataract, and these data are consistent with our working hypothesis that the initial site of attack of selenium in both cortical and nuclear cataract is the lens epithelium.

  14. Increasing incidence of cataract surgery: Population-based study

    Science.gov (United States)

    Gollogly, Heidrun E.; Hodge, David O.; St. Sauver, Jennifer L.; Erie, Jay C.

    2015-01-01

    PURPOSE To estimate the incidence of cataract surgery in a defined population and to determine longitudinal cataract surgery patterns. SETTING Mayo Clinic, Rochester, Minnesota, USA. DESIGN Cohort study. METHODS Rochester Epidemiology Project (REP) databases were used to identify all incident cataract surgeries in Olmsted County, Minnesota, between January 1, 2005, and December 31, 2011. Age-specific and sex-specific incidence rates were calculated and adjusted to the 2010 United States white population. Data were merged with previous REP data (1980 to 2004) to assess temporal trends in cataract surgery. Change in the incidence over time was assessed by fitting generalized linear models assuming a Poisson error structure. The probability of second-eye cataract surgery was calculated using the Kaplan-Meier method. RESULTS Included were 8012 cataract surgeries from 2005 through 2011. During this time, incident cataract surgery significantly increased (P cataract surgery steadily increased over the past 3 decades (P cataract surgery steadily increased over the past 32 years and has not leveled off, as reported in Swedish population-based series. Second-eye surgery was performed sooner and more frequently, with 60% of residents having second-eye surgery within 3-months of first-eye surgery. PMID:23820302

  15. Hereditary Cerebellar Ataxias: A Korean Perspective

    Directory of Open Access Journals (Sweden)

    Ji Sun Kim

    2015-05-01

    Full Text Available Hereditary ataxia is a heterogeneous disorder characterized by progressive ataxia combined with/without peripheral neuropathy, extrapyramidal symptoms, pyramidal symptoms, seizure, and multiple systematic involvements. More than 35 autosomal dominant cerebellar ataxias have been designated as spinocerebellar ataxia, and there are 55 recessive ataxias that have not been named systematically. Conducting genetic sequencing to confirm a diagnosis is difficult due to the large amount of subtypes with phenotypic overlap. The prevalence of hereditary ataxia can vary among countries, and estimations of prevalence and subtype frequencies are necessary for planning a diagnostic strategy in a specific population. This review covers the various hereditary ataxias reported in the Korean population with a focus on the prevalence and subtype frequencies as the clinical characteristics of the various subtypes.

  16. Decreased erythrocyte superoxide dismutase in elderly men with early nuclear cataract

    Directory of Open Access Journals (Sweden)

    Rose Rose

    2015-12-01

    Full Text Available BACKGROUND Imbalance between oxidative processes and antioxidant defenses has been considered to play a role in cataractogenesis, particularly in diabetes patients. Superoxide dismutase (SOD is an important precursor for oxidative stress in the human lens, and its activity is mainly dependent on the copper and zinc levels in the body. The aim of this study was to compare erythrocyte SOD, erythrocyte zinc and total serum testosterone levels in male patients with early senile nuclear cataract and evaluate the correlations between the parameters in all subjects. METHODS A community-based study of cross-sectional design was conducted at Cilandak District Primary Health Center where 52 adult and 17 elderly men with early senile nuclear cataract were chosen as the study subjects. Erythrocyte SOD, erythrocyte zinc, serum testosterone, and fasting blood glucose (FBG levels were measured in all subjects. Nuclear cataract stage was assessed with the Pentacam® instrument (Oculus, Germany. Independent Student t test and Pearson’s correlation were used to analyze the results. RESULTS Erythrocyte SOD level was significantly decreased in elderly men compared to adult men (p=0.014. Erythrocyte zinc, serum testosterone and FBG did not differ significantly in adult and elderly males (at p=0.304; p=0.145;and p=0.376, respectively. Erythrocyte SOD activity was significantly associated with erythrocyte zinc level (r=0.486; p=0.048. CONCLUSIONS Lower erythrocyte SOD activity was found in elderly males than in adult males with early nuclear cataract. There was a relationship between erythrocyte SOD and erythrocyte zinc level in elderly males with early nuclear cataract.

  17. The cataract situation in Suriname: an effective intervention programme to increase the cataract surgical rate in a developing country.

    Science.gov (United States)

    Pawiroredjo, Jerrel C; Minderhoud, Janna; Mans, Dennis R A; Themen, Herman C I; Bueno de Mesquita-Voigt, Anne-Marie T; Siban, Michael R; Forster-Pawiroredjo, Cindy M; Moll, Annette C; van Nispen, Ruth M A; Limburg, Hans

    2017-02-01

    To provide an overview of cataract data in Suriname and to describe and evaluate a programme to control cataract blindness in a developing country. Evaluation of hospital data and findings from a population-based cross-sectional survey. The implementation of a new cataract surgical intervention programme was described and retrospectively evaluated by analysing the number of cataract operations and other related indicators at the Suriname Eye Centre (SEC) in the period 2006-2014. Findings of the recent Rapid Assessment of Avoidable Blindness (2013-2014) survey were used to evaluate the national cataract situation in Suriname in people aged ≥50 years (n=2998), including prevalence of cataract blindness, outcome and cataract surgical rate (CSR). Since the implementation of a new cataract intervention programme, the number of cataract operations at the SEC has increased from 1150 in 2006 to 4538 in 2014, leading to an estimated national CSR of 9103 per one million inhabitants. The prevalence of bilateral cataract blindness in Suriname was 0.8% (95% CI 0.2% to 1.3%) in individuals aged ≥50 years. The proportion of eyes with a postoperative visual acuity cataract situation in Suriname is well under control since the implementation of the new intervention programme. Important factors contributing to this success were the introduction of phacoemulsification, intensive training, and improvement in the affordability and accessibility of cataract surgery. The proportion of poor outcomes was still >5%. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

  18. Albright hereditary osteodystrophy: A rare case report

    Directory of Open Access Journals (Sweden)

    Goswami M

    2009-09-01

    Full Text Available Albright hereditary osteodystrophy (AHO is a rare hereditary metabolic disorder that may be associated with or without resistant to parathyroid hormone (pseudohypoparathyroidism. It is commonly characterized by a constellation of physical features of short stature, round face, short neck, and small metacarpals and metatarsals, mild mental retardation, osteoporosis, subcutaneous calcification, and sometimes olfactory and hearing functional defect. Hypocalcaemia and hyperphosphatemia are the most important manifestations of the case. We report a clinical case of siblings with AHO with reduced Gs-alpha activity and we discuss their clinical features with oral manifestations, radiographic findings, laboratory tests along with treatment.

  19. Therapeutic Strategies for Hereditary Kidney Cancer.

    Science.gov (United States)

    Sidana, Abhinav; Srinivasan, Ramaprasad

    2016-08-01

    The study of hereditary forms of kidney cancer has vastly increased our understanding of metabolic and genetic pathways involved in the development of both inherited and sporadic kidney cancers. The recognition that diverse molecular events drive different forms of kidney cancers has led to the preclinical and clinical development of specific pathway-directed strategies tailored to treat distinct subgroups of kidney cancer. Here, we describe the molecular mechanisms underlying the pathogenesis of several different types of hereditary renal cancers, review their clinical characteristics, and summarize the treatment strategies for the management of these cancers.

  20. Extramedullary paraspinal hematopoiesis in hereditary spherocytosis

    Directory of Open Access Journals (Sweden)

    Gogia P

    2008-01-01

    Full Text Available Hereditary spherocytosis (HS is a common inherited hemolytic anemia due to red cell membrane defects. Extramedullary hematopoiesis is a compensatory response to insufficient bone marrow blood cell production. The preferred sites of extramedullary hematopoietic involvement are the spleen, liver and lymph nodes; but in HS, the posterior paravertebral mediastinum is also commonly involved. We report a case of a 50-year-old male who presented to us in respiratory distress and with bilateral paravertebral posterior mediastinal masses, which on trucut biopsy were found to be extra-hematopoietic masses; and the patient was found to have hereditary spherocytosis.

  1. [Recurrent urinary lithiasis revealing hereditary xanthinuria].

    Science.gov (United States)

    Bahlous, Afef; Gasmi, Manef; Mohsni, Amira; Abdelmoula, Jaouida

    2007-09-01

    Hereditary xanthinuria, due to a purine metabolism disorder, is a rare cause of urinary lithiasis in children. We report the case of a child aged 3 and a half years, who presented recurrent urinary lithiasis that led to destruction of the right kidney. Infrared spectrophotometric analysis of the calculus concluded that it was composed of 100% xanthine. Laboratory tests showed hypouricemia and hypouricosuria with elevated urinary excretion of oxypurines. These findings led to a diagnosis of hereditary xanthinuria. Early diagnosis of this rare disease is essential to avoid its complications. Metabolic causes must be sought in children with lithiasis.

  2. Cholelithiasis in an Infant with Bilateral Cataract and Congenital CMV Infection

    Directory of Open Access Journals (Sweden)

    Abhishek Dwivedi

    2017-04-01

    Full Text Available Cytomegalovirus (CMV is recognized pathogen known for most common intrauterine infection in humans and vertical transmissions. We present a case of congenital CMV infection with bilateral cataract which is complicated by cholelithiasis which was later diagnosed on ultrasound examination of abdomen. This case is of particular interest because cholelithiasis has never been reported with CMV infection in literature. Patient had no history of any immune deficiency, any hemolytic or bowel disease.

  3. The Relationship of age, attitude, knowladge, cost to cataract surgery

    Directory of Open Access Journals (Sweden)

    Aminatul Fitria

    2017-02-01

    Full Text Available Cataract is the leading cause of 51% blindness case in the world. Cataract can only be cured trough surgery, but most people with cataract in Indonesia is not in undergoing surgery due to several factors. The increasing number of cataract victim whose not undergoing any treatment to cure them will resulting in increasing number of blindness case, so blindness cause by cataracts can be a public health problem. This research was conducted to determine the relationship of age, attitudes, knowledge and the cost of the action to perform cataract surgery. This research was an observational analytic study with cross sectional design. The samples were cataract patients in Undaan Eye Hospital Surabaya who were randomly selected using a simple random sampling based on medical records of 60 people. Data collection was done by taking secondary data and interviews to patients. Those variables was analyzed with chi square or Fisher’s exact with significancy level at 95%. The result showed that there were correlation between knowledge (p = 0.017, operating costs (p = 0.001 and attitude (0.000 while age was not related (p = 1.000, the actions to perform cataract surgery. The conclusion from this research was the attitude, knowledge and operating costs related to the actions to perform cataract surgery, while age was not related to the actions to perform cataract surgery. It is recommended to give through leaflets or other media in the lobby for improving patient education, counseling to the patient family, the doctor’s advice to convince patient for surgery. Keywords: practice, surgery, cataract, attitudes, costs

  4. Hypertension and Risk of Cataract: A Meta-Analysis

    Science.gov (United States)

    Yu, Xiaoning; Lyu, Danni; Dong, Xinran; He, Jiliang; Yao, Ke

    2014-01-01

    Background Cataract is the major cause of blindness across the world. Many epidemiologic studies indicated that hypertension might play an important role in the development of cataract, while others not. We therefore conducted this meta-analysis to determine the relationship between risk of cataract and hypertension. Methods Retrieved studies on the association of hypertension with cataract risk were collected from PubMed, Web of Science and the Cochrane Library during June 2014 and were included into the final analysis according to the definite inclusion criteria. Odds ratio (OR) or risk ratio (RR) were pooled with 95% confidence interval (CI) to evaluate the relationship between hypertension and cataract risk. Subgroup analyses were carried out on the basis of cataract type, race and whether studies were adjusted for main components of metabolic syndrome (MS). Results The final meta-analysis included 25 studies (9 cohort, 5 case-control and 11 cross-sectional) from 23 articles. The pooled results showed that cataract risk in populations with hypertension significantly increased among cohort studies (RR 1.08; 95% CI: 1.05–1.12) and case-control or cross-sectional studies (OR 1.28; 95% CI: 1.12–1.45). This association was proved to be true among both Mongolians and Caucasians, and the significance was not altered by the adjustment of main components of MS. Subgroup analysis on cataract types indicated that an increased incidence of posterior subcapsular cataract (PSC) resulted among cohort studies (RR 1.22; 95% CI: 1.03–1.46) and cross-sectional/case-control studies (OR 1.23; 95% CI: 1.09–1.39). No association of hypertension with risk of nuclear cataract was found. Conclusions The present meta-analysis suggests that hypertension increases the risk of cataract, especially PSC. Further efforts should be made to explore the potential biological mechanisms. PMID:25474403

  5. A CLINICAL STUDY AND MANAGEMENT OF PAEDIATRIC CATARACT, OUR EXPERIENCE

    Directory of Open Access Journals (Sweden)

    Satish D. Shet

    2017-09-01

    Full Text Available BACKGROUND Control of childhood blindness is one of the priorities identified for achieving the goals of Vision-2020 by WHO. This is considered a priority because blind-years (number of years that a blind person lives after going blind due to childhood blindness are second only to cataract and half of childhood blindness is avoidable (treatable/preventable. Paediatric cataract accounts for 12% of the 1.4 million blind children globally. The prevalence of childhood cataract has been reported as 1 to 15 cases in 10,000 children in developing countries. Compared to industrialised countries, this figure is 10 times higher. Early detection and timely treatment of various childhood disorders such as congenital cataract are the most crucial factors for successful outcome. A suitable measure to address amblyopia and posterior capsule opacification post operatively is imperative for successful visual rehabilitation of such children. The objectives of this study were- 1 To study the clinical profile of paediatric cataract. 2 To evaluate the visual outcome after cataract surgery in these patients. 3 To evaluate different causes of visual impairment following management. MATERIALS AND METHODS A prospective study conducted at Karnataka institute of medical sciences department of ophthalmology from October 2015 to September 2016. All children below 14 years of age presenting with cataract will undergo thorough ophthalmologic examination and cataract surgery. RESULTS The results of the present study with 25 paediatric patients (36 eyes indicates that excellent vision can be expected after cataract surgery and posterior chamber IOL implantation coupled with appropriate amblyopia therapy. CONCLUSION The paediatric cataract patients are referred from primary health centers, and district hospital from north Karnataka to KIMS Hubli. All paediatric patients are from lower socio economic status. Early detection of cataracts and referrals to the ophthalmologist can

  6. Epidemiology of Non-hereditary Angioedema

    DEFF Research Database (Denmark)

    Madsen, Flemming; Attermann, Jørn; Linneberg, Allan

    2012-01-01

    The prevalence of non-hereditary angioedema was investigated in a general population sample (n¿=¿7,931) and in a sample of Danish patients (n¿=¿7,433) tested for deficiency of functional complement C1 esterase inhibitor protein (functional C1 INH). The general population sample (44% response rate...

  7. Epidemiology of Non-hereditary Angioedema

    DEFF Research Database (Denmark)

    Madsen, Flemming; Attermann, Jorn; Linneberg, Allan

    2012-01-01

    The prevalence of non-hereditary angioedema was investigated in a general population sample (n = 7,931) and in a sample of Danish patients (n = 7,433) tested for deficiency of functional complement C1 esterase inhibitor protein (functional C1 INH). The general population sample (44% response rate...

  8. [Preventive resection of hereditary diffuse gastric cancer

    NARCIS (Netherlands)

    Hoogerbrugge-van der Linden, N.; Ligtenberg, M.J.L.; Nagengast, F.M.; Bonenkamp, J.J.; Krieken, J.H.J.M. van

    2006-01-01

    Hereditary diffuse gastric cancers are rare, accounting for at most 1-3% of gastric cancers. It can be caused by a mutation in the tumour-suppressor gene CDH1. A healthy person carrying a CDH1 mutation has a cumulative risk of developing gastric cancer of 70-80%. In most cases, gastric cancer is

  9. Hereditary spherocytosis. | Hassan | Annals of African Medicine

    African Journals Online (AJOL)

    Hereditary spherocytosis (HS) is a familial hemolytic disorder with marked heterogeneity of clinical features, ranging from an asymptomatic condition to a fulminant hemolytic anemia. Although a positive family history of spherocytosis increases the risk for this disorder, it may be sporadic in some cases. In severe cases the ...

  10. Gynecologic screening in hereditary nonpolyposis colorectal cancer

    NARCIS (Netherlands)

    Rijcken, FEM; Mourits, MJE; Kleibeuker, JH; Hollema, H; van der Zee, AGJ

    2003-01-01

    Objective. In hereditary nonpolyposis colorectal cancer (HNPCC), women with a mismatch repair (MMR) gene mutation have a cumulative lifetime risk of 25-50% for endometrial cancer and 8-12% for ovarian cancer. Therefore, female members of HNPCC families are offered an annual gynecologic and

  11. Clinical management of hereditary colorectal cancer syndromes.

    Science.gov (United States)

    Vasen, Hans F A; Tomlinson, Ian; Castells, Antoni

    2015-02-01

    Hereditary factors are involved in the development of a substantial proportion of all cases of colorectal cancer. Inherited forms of colorectal cancer are usually subdivided into polyposis syndromes characterized by the development of multiple colorectal polyps and nonpolyposis syndromes characterized by the development of few or no polyps. Timely identification of hereditary colorectal cancer syndromes is vital because patient participation in early detection programmes prevents premature death due to cancer. Polyposis syndromes are fairly easy to recognize, but some patients might have characteristics that overlap with other clinically defined syndromes. Comprehensive analysis of the genes known to be associated with polyposis syndromes helps to establish the final diagnosis in these patients. Recognizing Lynch syndrome is more difficult than other polyposis syndromes owing to the absence of pathognomonic features. Most investigators therefore recommend performing systematic molecular analysis of all newly diagnosed colorectal cancer using immunohistochemical methods. The implementation in clinical practice of new high-throughput methods for molecular analysis might further increase the identification of individuals at risk of hereditary colorectal cancer. This Review describes the clinical management of the various hereditary colorectal cancer syndromes and demonstrates the advantage of using a classification based on the underlying gene defects.

  12. Demyelinating polyneuropathy in Leber hereditary optic neuropathy.

    NARCIS (Netherlands)

    Gilhuis, H.J.; Schelhaas, H.J.; Cruysberg, J.R.M.; Zwarts, M.J.

    2006-01-01

    We report a patient with Leber hereditary optic neuropathy (G11778A mtDNA) and a severe demyelinating neuropathy, for which no other cause except his mitochondrial disorder could be found. The involvement of the peripheral nervous system of patients with LHON, in particular with a 11778 mtDNA, is

  13. Hereditary spherocytosis presenting as indolent leg ulcers

    Directory of Open Access Journals (Sweden)

    Muhammed K

    1997-01-01

    Full Text Available Indolent leg ulcertation, which is the rarest manifestation of hereditary spherocytosis, started at the age of 5 years affecting a 15-year-old boy and his mother is reported. Review of literature showed very few reports from India and abroad. The response to oral folic acid was excellent

  14. Small-incision cataract extraction combined trabeculectomy for primary angle-closure glaucoma with cataract

    Directory of Open Access Journals (Sweden)

    Yu-Feng Wu

    2014-09-01

    Full Text Available AIM: To observe the curative effect of treating small-incision cataract extraction by intraocular lens implantation combined with trabeculectomy for primary angle-closure glaucoma with cataract. METHODS: Totally 44 cases(52 eyesof primary angle-closure glaucoma combined with cataract were selected to undergo the combined surgery, in order to observe the patients' pre- and postoperative eyesights, intraocular pressures and the postoperative complications.RESULTS: The postoperative eyesight was improved significantly as compared with the preoperative eyesight. The intraocular pressure was declined dramatically. The result was of statistical significance(P0.05. All the 52 cases' surgeries were performed by the same surgeon. The surgeries were processed smoothly, with 6 postoperative eyes of anterior chamber inflammation cell response, 3 eyes of anterior chamber fibrinoid exudate, 2 eyes of shallow anterior chamber through mydriasis and treatment with glucocorticoids and non-steroidal eyedrops before absorption, and no complications like malignant glaucoma, cyclodialysis, etc. were reported through mydriasis and pressure bandaging before recovery.CONCLUSION: Treating the primary angle-closure glaucoma combined with cataract through the combined surgery has high reliability and desirable curative effect. The surgical method is simple to learn and applicable for promotion on the basic level.

  15. Comprehensive management of pediatric cataract in Africa | Adio ...

    African Journals Online (AJOL)

    Worldwide, childhood blindness is 0.75/1000 children giving an estimated number of 1.4 million suffering from blindness worldwide. Of the blind children worldwide, congenital cataract is the major cause in African countries. The management of cataract in children poses a challenge to the African ophthalmologist, and the ...

  16. Evaluation of surgical outcome after cataract surgery with lens ...

    African Journals Online (AJOL)

    The objective of this study was to evaluate the surgical outcome after cataract surgery with lens implantation using air or viscoelastic to maintain the anterior chamber. Design: Retrospective record analysis. Subjects: Record cards of patients operated for cataract at Sakubva Eye Unit, Mutare, Zimbabwe in the period January ...

  17. Outcome of extra-capsular cataract extraction with posterior ...

    African Journals Online (AJOL)

    posterior chamber intraocular lens implantation performed at a cataract surgical campaign. Tesfaye Haileselassie, Yared Asefa, Samson Bayu, Abebe Bejiga. Abstract. Background: Cataract is the leading cause of blindness and visual impairment in many developing countries. It accounts for 20 million bilaterally blind ...

  18. Carbon footprint and cost-effectiveness of cataract surgery.

    Science.gov (United States)

    Venkatesh, Rengaraj; van Landingham, Suzanne W; Khodifad, Ashish M; Haripriya, Aravind; Thiel, Cassandra L; Ramulu, Pradeep; Robin, Alan L

    2016-01-01

    This article raises awareness about the cost-effectiveness and carbon footprint of various cataract surgery techniques, comparing their relative carbon emissions and expenses: manual small-incision cataract surgery (MSICS), phacoemulsification, and femtosecond laser-assisted cataract surgery. As the most commonly performed surgical procedure worldwide, cataract surgery contributes significantly to global climate change. The carbon footprint of a single phacoemulsification cataract surgery is estimated to be comparable to that of a typical person's life for 1 week. Phacoemulsification has been estimated to be between 1.4 and 4.7 times more expensive than MSICS; however, given the lower degree of postoperative astigmatism and other potential complications, phacoemulsification may still be preferable to MSICS in relatively resource-rich settings requiring high levels of visual function. Limited data are currently available regarding the environmental and financial impact of femtosecond laser-assisted cataract surgery; however, in its current form, it appears to be the least cost-effective option. Cataract surgery has a high value to patients. The relative environmental impact and cost of different types of cataract surgery should be considered as this treatment becomes even more broadly available globally and as new technologies are developed and implemented.

  19. Visual outcome after cataract surgery at the University College ...

    African Journals Online (AJOL)

    Aim: The aim of this study was to determine the visual outcome of patients who had cataract surgery in the University College Hospital Ibadan. Methodology: This is an observational descriptive, longitudinal study of consecutive patients undergoing cataract surgery at the University College Hospital conducted between May ...

  20. Outcome of cataract surgeries in Plateau State, Nigeria | Odugbo ...

    African Journals Online (AJOL)

    Aim: To evaluate the outcome of cataract surgeries in terms of restoration of visual function in the operated eye in Plateau State, Nigeria. Method: Four centres were selected using stratified random sampling technique. Consecutive patients, who had cataract extraction from 1st October 2002 - 31st March 2003, were ...

  1. Cataract Extraction With Intraocular Lens Implant: Early Experience ...

    African Journals Online (AJOL)

    Objectives: To audit our early experience of cataract surgery with intraocular lens implant, in the University of Nigeria Teaching Hospital (U.N.T.H.), Enugu. Methods: In a retrospective, non-comparative case-series study, the records of all patients who had cataract extraction with intraocular lens implant between January ...

  2. Cataract surgery with intraocular lens implantation in children aged ...

    African Journals Online (AJOL)

    The aim of this study was to report feasibility, the visual outcomes and complications of pediatric cataract surgery with primary intraocular lens implantation in children aged 5 to15 years in local anesthesia. This retrospective interventional case series included 62 eyes from 50 children who underwent pediatrc cataract ...

  3. Rapid assessment of cataract surgical coverage in rural Zululand ...

    African Journals Online (AJOL)

    Objective. Cataract surgical coverage (CSC) is a useful indicator of the degree of success of a cataract intervention programme. However, because previously described methods are time-consuming and labour-intensive, they are rarely performed. This study describes a simple and inexpensive assessment of CSC based ...

  4. Prevalence and incidence' of blindness due to agerelated cataract in ...

    African Journals Online (AJOL)

    Objectives. The Bureau for the Prevention of Blindness is responsible for the provision of cataract surgery to the rural indigent population of South Africa. It is important for the Bureau to know both the prevalence and the incidence of cataract blindness in the population. Design, setting and subjects. Blindness prevalence ...

  5. Congenital cataract screening in maternity wards is effective

    DEFF Research Database (Denmark)

    Magnusson, Gunilla; Bizjajeva, Svetlana; Haargaard, Birgitte

    2013-01-01

    screening policy. Response frequency was 96% (122/127). Data were derived from The Pediatric Cataract Register, PECARE Sweden. All Swedish children diagnosed with congenital cataract and operated on before 1 year of age between January 2007 and December 2009 were included. Statistical comparison...

  6. Prevalence of Cataract Blindness in Rural Ethiopia | Woldeyes ...

    African Journals Online (AJOL)

    Background: Over three-quarter of all blindness worldwide are preventable and usually caused by cataract and trachoma. Objective: To assess the prevalence of cataract blindness in rural Ethiopia in order to facilitate further health care planning. Methods: A Cross-sectional, community-based study of inhabitants over 40 ...

  7. Outcomes of Cataract Surgery Following Treatment for Retinoblastoma.

    Science.gov (United States)

    Kim, Hyeong Min; Lee, Byung Joo; Kim, Jeong Hun; Yu, Young Suk

    2017-02-01

    To evaluate the long-term visual outcomes and complications of cataract surgery in eyes previously treated for retinoblastoma. We reviewed the medical records of patients who underwent cataract extraction and intraocular lens implantation at Seoul National University Children's Hospital for a secondary cataract that developed after retinoblastoma treatment. During the period between 1990 and 2014, 208 eyes of 147 patients received eye-salvaging treatment (radiotherapy, chemotherapy, and local therapy) for retinoblastoma at Seoul National University Children's Hospital. Among these eyes, a secondary cataract was detected in 17 eyes of 14 patients, and five eyes of five patients underwent cataract surgery. The median age of cataract formation was 97 months (range, 38 to 153 months). The medial interval between the diagnosis of retinoblastoma and cataract formation was 79 months (range, 29 to 140 months). All patients received posterior chamber intraocular lens insertion after irrigation and aspiration of the lens through a scleral tunnel incision. Anterior vitrectomy and posterior capsulotomy were performed in two eyes and a laser capsulotomy was subsequently performed in one eye. No intraoperative and postoperative complications occurred. The median follow-up after surgery was 36 months (range, 14 to 47 months). The final best corrected visual acuities were improved in all five eyes. No intraocular tumor recurrences or metastases occurred. After retinoblastoma regression, cataract extraction in our series was not associated with tumor recurrence or metastasis. Visual improvement was noted in every patient.

  8. Solar cataract: A clinical report | Ahuama | Journal of Health and ...

    African Journals Online (AJOL)

    Solar Ultraviolet radiation is caractogenic, as there is increasing evidence implicating ultraviolet radiation as a risk factor in the aetiology of cataracts. Through absorption from sunlight exposure especially into the violet and of the visible range of the solar spectrum, cataract formation may occur due to physiochemical ...

  9. Traditional couching for cataract treatment: A cause of visual ...

    African Journals Online (AJOL)

    ability of better techniques in the treatment of cataract. Study Design: Records of 9 eyes of 6 patients (4 males, 2 ... et aussi a cause des meilleures techniques disponibles pour le traitement de la cataracte. Plan d'étude:- Dossiers .... who had coaching as seen at UlTH. Age Sex Period of Presenting. S/N (Years) Couching ...

  10. The Impact of Cataract Surgery on Subjective Visual Functions and ...

    African Journals Online (AJOL)

    2016-12-13

    Dec 13, 2016 ... Purpose: To determine the impact of cataract surgery on visual functions (VFs) and quality of life (QoL) in patients with cataract at the. National Eye Center, Kaduna. Methods: VFs and QoL questionnaires were administered to the patients preoperatively and 6 weeks postoperatively. Correlation was ...

  11. The Impact of Cataract Surgery on Subjective Visual Functions and ...

    African Journals Online (AJOL)

    Purpose: To determine the impact of cataract surgery on visual functions (VFs) and quality of life (QoL) in patients with cataract at the National Eye Center, Kaduna. Methods: VFs and QoL questionnaires were administered to the patients preoperatively and 6 weeks postoperatively. Correlation was assessed among ...

  12. related cataract in the rural areas of South Africa

    African Journals Online (AJOL)

    this backlog for cataract blindness in our rural areas are discussed. S Afr Med J 1995; 85: 26-27. Age-related cataract is a non-preventable disease of ageing. .... Pretoria: Department of Statistics, 1993. 8. World Health Organisation Study Group on the Prevention of Blindness. Classification of Severity of Visual Impairment.

  13. The Effect of Cataract Surgery on Circadian Photoentrainment

    DEFF Research Database (Denmark)

    Brøndsted, Adam Elias; Sander, Birgit; Haargaard, Birgitte

    2015-01-01

    PURPOSE: Cataract decreases blue light transmission. Because of the selective blue light sensitivity of the retinal ganglion cells governing circadian photoentrainment, cataract may interfere with normal sleep-wake regulation and cause sleep disturbances. The purpose was to investigate the effect...

  14. Challenges to the Elimination of Cataract Blindness in Nigeria as ...

    African Journals Online (AJOL)

    ophthalmic manpower for primary health centers is lacking. Equipments for modern cataract surgery is lacking as only 45.2% of practitioners have them for practice in their institutions. Institutional cataract surgery output is low; averaging 50-92 a year, ...

  15. Exploiting ensemble learning for automatic cataract detection and grading.

    Science.gov (United States)

    Yang, Ji-Jiang; Li, Jianqiang; Shen, Ruifang; Zeng, Yang; He, Jian; Bi, Jing; Li, Yong; Zhang, Qinyan; Peng, Lihui; Wang, Qing

    2016-02-01

    Cataract is defined as a lenticular opacity presenting usually with poor visual acuity. It is one of the most common causes of visual impairment worldwide. Early diagnosis demands the expertise of trained healthcare professionals, which may present a barrier to early intervention due to underlying costs. To date, studies reported in the literature utilize a single learning model for retinal image classification in grading cataract severity. We present an ensemble learning based approach as a means to improving diagnostic accuracy. Three independent feature sets, i.e., wavelet-, sketch-, and texture-based features, are extracted from each fundus image. For each feature set, two base learning models, i.e., Support Vector Machine and Back Propagation Neural Network, are built. Then, the ensemble methods, majority voting and stacking, are investigated to combine the multiple base learning models for final fundus image classification. Empirical experiments are conducted for cataract detection (two-class task, i.e., cataract or non-cataractous) and cataract grading (four-class task, i.e., non-cataractous, mild, moderate or severe) tasks. The best performance of the ensemble classifier is 93.2% and 84.5% in terms of the correct classification rates for cataract detection and grading tasks, respectively. The results demonstrate that the ensemble classifier outperforms the single learning model significantly, which also illustrates the effectiveness of the proposed approach. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  16. outcome and benefits of small incision cataract surgery in

    African Journals Online (AJOL)

    involved whole nucleus delivery through a sclerocorneal tunnel wound and insertion of a posterior chamber ... Key words: small incision, surgery, cataract, outcome. ... surgery. Cataract was diagnosed after a clinical examination that involved visual acuity assessment and slit lamp biomicroscopy. Visual acuity assessment ...

  17. How to Improve Outcome of Paediatric Cataract Surgery in Nigeria ...

    African Journals Online (AJOL)

    Paediatric cataract is an important problem all over the world. In developing countries, it is a major cause of childhood blindness resulting in a considerable level of morbidity, economic loss, and social burden. Managing cataracts in children remains a challenge because treatment is often difficult, due to the several ways in ...

  18. Combined Cataract and Glaucoma Surgery: An assessment of 68 ...

    African Journals Online (AJOL)

    Objective: To assess the best corrected visual acuity and average intraocular pressure at 6 months and one (1) year in patients with cataracts in glaucoma that had combined trabeculectomy and cataract surgery with lens implantation. Methods: A retrospective review of the case notes of patients who underwent combined ...

  19. Congenital cataract facial dysmorphism neuropathy syndrome: a clinically recognizable entity.

    NARCIS (Netherlands)

    Shabo, G.; Scheffer, H.; Cruysberg, J.R.M.; Lammens, M.M.Y.; Pasman, J.W.; Spruit, M.; Willemsen, M.A.A.P.

    2005-01-01

    Congenital cataracts facial dysmorphism neuropathy syndrome is a recently delineated autosomal recessive condition exclusively found in the Gypsy population. Congenital cataracts facial dysmorphism neuropathy syndrome is caused by a homozygous mutation in the CTDP1 gene, leading to disruption of the

  20. rapid assessment of cataract surgical coverage in rural zululand

    African Journals Online (AJOL)

    562 old-age pensioners. MetJwd. Subjects found to be ?lind (visual acuity < 3/60) and those reporting a history of eye surgery were examined using a torch and direct ophthalmoscop~by an ophthalmologist. Outcome measures. Cases of blindness due to operable cataract and post-cataract surgical subjects were identified.

  1. a comparative study between manual small incision cataract surgery ...

    African Journals Online (AJOL)

    ... October 2012 to October 2014 for cataract surgery were followed up for 6 weeks after surgery. They were divided into two groups based on the type of surgical procedure opted by the patients. Group A consisted of 50 patients who underwent Manual Small Incision Cataract. Surgery with rigid Polymethyl Methacrylate IOL ...

  2. Meeting the need for childhood cataract surgical services in ...

    African Journals Online (AJOL)

    Background: Cataract has emerged as the most important cause of blindness in children worldwide, and has been one of the priorities of VISION 2020, the global initiative to eliminate avoidable blindness by 2020. More than 2500 children are estimated to be blind from cataract in Madagascar. The aim of this study was to ...

  3. An inherited cataract in New Zealand Romney sheep.

    Science.gov (United States)

    Brooks, H V; Jolly, R D; West, D M; Bruere, A N

    1982-08-01

    A bilateral cataract was noted to occur in sheep on a New Zealand Romney stud. Extensive breeding trials showed that this defect was inherited as an autosomal dominant. As such this form of cataract is of minimal importance to the sheep industry as control is merely by culling affected individuals.

  4. a sudden total loss of vision after routine cataract surgery

    African Journals Online (AJOL)

    David Ofori-Adjei

    2013-06-01

    Jun 1, 2013 ... June 2013. Volume 47, Number 2. GHANA MEDICAL JOURNAL. 96. A SUDDEN TOTAL LOSS OF VISION AFTER ROUTINE CATARACT. SURGERY. S. LARTEY1, P. ... Cataract surgery has its complications. The most feared ... mm Hg on oral nifedipine 40 mg daily who presented with 6/36 vision in both ...

  5. Trainee ophthalmologists' opinions on ways to improve cataract ...

    African Journals Online (AJOL)

    2010-02-08

    Feb 8, 2010 ... actions to improve CSR were attractive rural allowance, structured training, resource availability, cost reduction and marketing of cataract surgical services. Multiple actions might be necessary to raise CSR. Keywords: Cataract surgical rate, opinion, priority actions, trainees. Résumé. Objectif: Pour connaître ...

  6. Long-Term Results of Cataract Surgery in Patients with Unilateral Childhood Cataract

    Directory of Open Access Journals (Sweden)

    Suzan Güven Yılmaz

    2012-03-01

    Full Text Available Pur po se: To evaluate the long-term visual outcome and to determine the surgical complications after cataract surgery in patients with unilateral childhood cataract. Ma te ri al and Met hod: We retrospectively reviewed the records of 18 cases with unilateral childhood cataract who had undergone cataract surgery before the age of seven. Primary intraocular lens (IOL implantation was made in children who were older than 1 year of age. Secondary IOL implantation was made after 18 months in children who were operated before the age of 1 year and were left aphakic. Occlusion therapy was performed to all children for amblyopia postoperatively. Visual acuity and complications were evaluated in a mean follow-up period of 4.8 years. Re sults: The mean age of the 18 patients (9 female/9 male at the time of surgery was 43.6±33.7(1-84 months. Eleven (61% patients had cataract surgery after 1 year of age. Secondary IOL implantation was performed at mean 28th month in 4 of 7 aphakic patients (57% who had cataract surgery before one year of age. In 3 (43% aphakic patients, secondary IOL implantation could not be performed because of ocular pathologies such as microophthalmia. Final visual acuity was 0.5 or better in 7 eyes (39%, between 0.1 and 0.5 in 6 eyes (33%, and worse than 0.1 - in 5 eyes (28%. Of 5 eyes that had visual acuity worse than 0.1, 4 (80% had at least one additional ocular pathology such as microphthalmia, strabismus and nystagmus. Nd:YAG laser posterior capsulotomy was performed at mean 8th month in 7 of 8 (87% children whose posterior capsules were left intact at surgery. Dis cus si on: Favorable visual outcomes can be achieved with surgical intervention and complementary amblyopia treatment in children with unilateral cataract. Preoperative microphthalmia, nystagmus and strabismus are not entirely an obstacle to visual development, but they are important factors leading to low visual acuity. (Turk J Ophthalmol 2012; 42: 103-10

  7. Prevalence of Cataract in an Older Population in India

    Science.gov (United States)

    Vashist, Praveen; Talwar, Badrinath; Gogoi, Madhurjya; Maraini, Giovanni; Camparini, Monica; Ravindran, Ravilla D.; Murthy, Gudlavalleti V.; Fitzpatrick, Kathryn E.; John, Neena; Chakravarthy, Usha; Ravilla, Thulasiraj D.; Fletcher, Astrid E.

    2011-01-01

    Purpose To describe the prevalence of cataract in older people in 2 areas of north and south India. Design Population-based, cross-sectional study. Participants Randomly sampled villages were enumerated to identify people aged ≥60 years. Of 7518 enumerated people, 78% participated in a hospital-based ophthalmic examination. Methods The examination included visual acuity measurement, dilatation, and anterior and posterior segment examination. Digital images of the lens were taken and graded by type and severity of opacity using the Lens Opacity Classification System III (LOCS III). Main Outcome Measures Age- and gender-standardized prevalence of cataract and 95% confidence intervals (CIs). We defined type of cataract based on the LOCS III grade in the worse eye of: ≥4 for nuclear cataract, ≥3 for cortical cataract, and ≥2 for posterior subcapsular cataract (PSC). Any unoperated cataract was based on these criteria or ungradable dense opacities. Any cataract was defined as any unoperated or operated cataract. Results The prevalence of unoperated cataract in people aged ≥60 was 58% in north India (95% CI, 56–60) and 53% (95% CI, 51–55) in south India (P = 0.01). Nuclear cataract was the most common type: 48% (95% CI, 46–50) in north India and 38% (95% CI, 37–40) in south India (Pcataract 7.6% (95% CI, 7–9) and 10.2% (95% CI, 9–11; Pcataracts was similar in north (73.8%) and south India (71.8%). The prevalence of unoperated cataract increased with age and was higher in women than men (odds ratio [OR], 1.8). Aphakia/pseudophakia was also more common in women, either unilateral (OR, 1.2; Pcataract in older people in north and south India. Posterior subcapsular cataract was more common than in western studies. Women had higher rates of cataract, which was not explained by differential access to surgery. Financial Disclosure(s) The authors have no proprietary or commercial interest in any of the materials discussed in this article. PMID:20801514

  8. Surgical options for correction of refractive error following cataract surgery.

    Science.gov (United States)

    Abdelghany, Ahmed A; Alio, Jorge L

    2014-01-01

    Refractive errors are frequently found following cataract surgery and refractive lens exchange. Accurate biometric analysis, selection and calculation of the adequate intraocular lens (IOL) and modern techniques for cataract surgery all contribute to achieving the goal of cataract surgery as a refractive procedure with no refractive error. However, in spite of all these advances, residual refractive error still occasionally occurs after cataract surgery and laser in situ keratomileusis (LASIK) can be considered the most accurate method for its correction. Lens-based procedures, such as IOL exchange or piggyback lens implantation are also possible alternatives especially in cases with extreme ametropia, corneal abnormalities, or in situations where excimer laser is unavailable. In our review, we have found that piggyback IOL is safer and more accurate than IOL exchange. Our aim is to provide a review of the recent literature regarding target refraction and residual refractive error in cataract surgery.

  9. Risk of Retinal Detachment After Pediatric Cataract Surgery

    DEFF Research Database (Denmark)

    Haargaard, Birgitte; Andersen, Elisabeth W; Oudin, Anna

    2014-01-01

    PURPOSE: To determine the long-term risk of retinal detachment following pediatric cataract surgery and to identify risk factors for retinal detachment. METHODS: We included all children (aged 0 to 17 years) who during the time period of 1977 to 2005 underwent pediatric cataract surgery in Denmark......, excluding cataract cases caused by trauma, or acquired systemic or acquired ocular pathology, and cases with ocular anomalies associated with the development of retinal detachment. Cases of cataract were ascertained from the mandatory Danish National Patient Register, and information on retinal detachment...... was based on medical chart review. RESULTS: Among 1043 eyes of 656 children undergoing surgery for pediatric cataract, 25 eyes (23 children) developed retinal detachment at a median time of 9.1 years after surgery. The overall 20-year risk of retinal detachment was 7% (95% confidence interval [CI]: 3...

  10. Internal wave structures in abyssal cataract flows

    Science.gov (United States)

    Makarenko, Nikolay; Liapidevskii, Valery; Morozov, Eugene; Tarakanov, Roman

    2014-05-01

    We discuss some theoretical approaches, experimental results and field data concerning wave phenomena in ocean near-bottom stratified flows. Such strong flows of cold water form everywhere in the Atlantic abyssal channels, and these currents play significant role in the global water exchange. Most interesting wave structures arise in a powerful cataract flows near orographic obstacles which disturb gravity currents by forced lee waves, attached hydraulic jumps, mixing layers etc. All these effects were observed by the authors in the Romanche and Chain fracture zones of Atlantic Ocean during recent cruises of the R/V Akademik Ioffe and R/V Akademik Sergei Vavilov (Morozov et al., Dokl. Earth Sci., 2012, 446(2)). In a general way, deep-water cataract flows down the slope are similar to the stratified flows examined in laboratory experiments. Strong mixing in the sill region leads to the splitting of the gravity current into the layers having the fluids with different densities. Another peculiarity is the presence of critical layers in shear flows sustained over the sill. In the case under consideration, this critical level separates the flow of near-bottom cold water from opposite overflow. In accordance with known theoretical models and laboratory measurements, the critical layer can absorb and reflect internal waves generated by the topography, so the upward propagation of these perturbations is blocked from above. High velocity gradients were registered downstream in the vicinity of cataract and it indicates the existence of developed wave structures beyond the sill formed by intense internal waves. This work was supported by RFBR (grants No 12-01-00671-a, 12-08-10001-k and 13-08-10001-k).

  11. Femtosecond laser in refractive and cataract surgeries

    Directory of Open Access Journals (Sweden)

    Han-Han Liu

    2015-04-01

    Full Text Available In the past few years, 9 unique laser platforms have been brought to the market. As femtosecond (FS laser-assisted ophthalmic surgery potentially improves patient safety and visual outcomes, this new technology indeed provides ophthalmologists a reliable new option. But this new technology also poses a range of new clinical and financial challenges for surgeons. We provide an overview of the evolution of FS laser technology for use in refractive and cataract surgeries. This review describes the available laser platforms and mainly focuses on discussing the development of ophthalmic surgery technologies.

  12. Preeclampsia and the risk of cataract extraction in life.

    Science.gov (United States)

    Auger, Nathalie; Rhéaume, Marc-André; Paradis, Gilles; Healy-Profitós, Jessica; Hsieh, Ada; Fraser, William D

    2017-04-01

    Pregnancy-related risk factors for cataract are understudied, including the possibility that preeclampsia increases the risk of cataract later in life. We sought to evaluate the long-term risk of cataract extraction following a preeclamptic pregnancy. We carried out a historic cohort study of 1,108,541 women who delivered at least 1 infant in any hospital in the province of Quebec, Canada, from 1989 through 2013, including 64,350 with preeclampsia and 5732 with cataract extractions. We categorized preeclampsia by onset time and severity, and followed up women for up to 25 years after delivery. We calculated the incidence of inpatient cataract extraction for women with and without preeclampsia, and used Cox proportional hazard models to estimate hazard ratios and 95% confidence intervals for later risk of cataract extraction, adjusting for age at first delivery, total parity, metabolic disease, asthma, socioeconomic deprivation, and time period. Women with preeclampsia had a higher incidence of cataract extraction compared with no preeclampsia (21.0 vs 15.9/1000) and 1.20 times the risk (95% confidence interval, 1.08-1.34). Women with early-onset preeclampsia had 1.51 times the risk of cataract extraction compared with no preeclampsia (95% confidence interval, 1.14-2.00), whereas women with late-onset preeclampsia had 1.16 times the risk (95% confidence interval, 1.04-1.30). Risk was elevated by about 20% for both severe and mild preeclampsia. Preeclampsia with diabetes was associated with significantly greater risk (hazard ratio, 4.32; 95% confidence interval, 3.60-5.19). Women with preeclampsia, particularly preeclampsia of early onset or with diabetes, may have greater risk of cataract later in life. The underlying pathways linking preeclampsia with cataract require further investigation. Copyright © 2016 Elsevier Inc. All rights reserved.

  13. The effect of repeated eye examinations and breeding advice on the prevalence and incidence of cataracts and progressive retinal atrophy in German dachshunds over a 13-year period.

    Science.gov (United States)

    Koll, Sarah; Reese, Sven; Medugorac, Ivica; Rosenhagen, Carsten U; Sanchez, Rick F; Köstlin, Roberto

    2017-03-01

    To analyze the change in prevalence and incidence of hereditary eye diseases (HED) in dachshunds due to breeding regulations based on biennial examinations performed by the German panel of veterinary ophthalmologists (DOK) from 1998 to 2011. A total of 12 242 dachshunds examined by the DOK and pedigree data of 318 852 dachshunds provided by the German Dachshund Club (DTK). The prevalence of congenital cataract (CC), distichiasis (DIST), hereditary cataract (HC), persistent pupillary membranes (PPMs), persistent hyperplastic tunica vasculosa lentis / persistent hyperplastic primary vitreous (PHTVL/PHPV), progressive retinal atrophy (PRA), retinal dysplasia (RD), and findings such as fiberglass-like cataract (FGC) and prominent suture lines (PSLs) was analyzed. The significance (P), confidence interval (CI), odds ratio (OR), relative risk (RR) and inbreeding coefficients (F) were calculated and P < 0.05 was considered significant. The incidence was evaluated based on affected dogs within birth cohorts from 1993 to 2006. The prevalent conditions studied were as follows: CC 0.5%, DIST 6.7%, HC 3.9%, PPMs 8.4%, PHTVL/PHPV 0.4%, PRA 1.5%, RD 0.2%, FGC 2.2%, and PSL 1.5%. The incidence of PRA decreased significantly from 6.0% to 0.6% for dogs born from 1993 to 2006, while HC showed a decreasing trend from 8.7% to 3.1%. More males than females were diagnosed with HC and PRA. Dachshunds with HEDs had an F that was not significantly higher than that of healthy dachshunds. The decreasing incidence of PRA and HC in dachshunds supports the use of frequent HED examinations in combination with breeding control. © 2016 American College of Veterinary Ophthalmologists.

  14. Cataract-free interval and severity of cataract after total body irradiation and bone marrow transplantation: influence of treatment parameters

    NARCIS (Netherlands)

    van Kempen-Harteveld, M. L.; Struikmans, H.; Kal, H. B.; van der Tweel, I.; Mourits, M. P.; Verdonck, L. F.; Schipper, J.; Battermann, J. J.

    2000-01-01

    PURPOSE: To determine prospectively the cataract-free interval (latency time) after total body irradiation (TBI) and bone marrow transplantation (BMT) and to assess accurately the final severity of the cataract. METHODS AND MATERIALS: Ninety-three of the patients who received TBI as a part of their

  15. Roasting Enhances the Anti-Cataract Effect of Coffee Beans: Ameliorating Selenite-Induced Cataracts in Rats.

    Science.gov (United States)

    Ishimori, Nana; Oguchi, Jun; Nakazawa, Yosuke; Kobata, Kenji; Funakoshi-Tago, Megumi; Tamura, Hiroomi

    2017-06-01

    Coffee is a widely consumed beverage. While recent studies have linked its intake to a reduced risk of cataracts, caffeine is believed to be the key factor for its effect. To know how roasting beans affects the effect of coffee on cataract formation, we investigated the impact roasting using a selenite-induced cataract rat model. Sprague Dawley rats were given a single injection of sodium selenite, which induced formation of nuclear cataracts by day 6, with or without coffee intake (100% coffee, 0.2 mL/day) for following 3 days. The concentrations of glutathione (GSH) and ascorbic acid (AsA) in selenite-induced cataract lenses declined to half that of controls. However, 3 days of coffee intake ameliorated the reduction of GSH and AsA so that concentrations remained at 70-80% that of controls. Roasting enhanced the preventive effect of coffee by further reducing cataract formation and ameliorating selenite-induced reduction of antioxidants. High-performance liquid chromatography analysis revealed degradation of chlorogenic acid and generation of pyrocatechol during the coffee roasting process. We discovered that pyrocatechol, at doses equivalent to that found in dark-roasted coffee, was equally effective as caffeine at reducing cataract formation and ameliorating the reduction of antioxidants. Our results indicate that pyrocatechol, generated during the roasting process, acts as an antioxidant together with caffeine to prevent cataract formation.

  16. Malformation of junctional microdomains in cataract lens membranes from a type II diabetes patient.

    Science.gov (United States)

    Mangenot, Stéphanie; Buzhynskyy, Nikolay; Girmens, Jean-François; Scheuring, Simon

    2009-04-01

    In eye core lens membranes, aquaporin-0 (AQP0) and connexins (Cx) form together well-structured supramolecular assemblies, the junctional microdomains, in which they assure water, ion, metabolite, and waste transport. Additionally, they mediate cell-cell adhesion-forming thin junctions (AQP0) and gap junctions (Cx). We have used atomic force microscopy and biochemical methods to analyze and compare the structure of junctional microdomains in human cataract lens membranes from a type II diabetes patient and healthy lens membranes from calf. A healthy intercellular junctional microdomain consists in average of approximately 150 tetragonally arranged (a = b = 65.5 A, gamma = 90 degrees) AQP0 tetramers surrounded by densely packed non-ordered connexon channels. Gap-junction connexons act as lineactants inside the membrane and confine AQP0 in the junctional microdomains. In the diabetic cataract lens, connexons were degraded, and AQP0 arrays are malformed. We conceptualize that absence of connexons lead to breakdown of cell nutrition.

  17. A novel GJA8 mutation (p.V44A causing autosomal dominant congenital cataract.

    Directory of Open Access Journals (Sweden)

    Yanan Zhu

    Full Text Available To examine the mechanism by which a novel connexin 50 (Cx50 mutation, Cx50 V44A, in a Chinese family causes suture-sparing autosomal dominant congenital nuclear cataracts.Family history and clinical data were recorded and direct gene sequencing was used to identify the disease-causing mutation. The Cx50 gene was cloned from a human lens cDNA library. Connexin protein distributions were assessed by fluorescence microscopy. Hemichannel functions were analyzed by dye uptake assay. Formation of functional channels was assessed by dye transfer experiments.Direct sequencing of the candidate GJA8 gene revealed a novel c.131T>C transition in exon 2, which cosegregated with the disease in the family and resulted in the substitution of a valine residue with alanine at codon 44 (p. V44A in the extracellular loop 1 of the Cx50 protein. Both Cx50 and Cx50V44A formed functional gap junctions, as shown by the neurobiotin transfer assay. However, unlike wild-type Cx50, Cx50V44A was unable to form open hemichannels in dye uptake experiments.This work identified a unique congenital cataract in the Chinese population, caused by the novel mutation Cx50V44A, and it showed that the V44A mutation specifically impairs the gating of the hemichannels but not the gap junction channels. The dysfunctional hemichannels resulted in the development of human congenital cataracts.

  18. Vibrational microspectroscopy analysis of human lenses

    Science.gov (United States)

    Paluszkiewicz, C.; Piergies, N.; Sozańska, A.; Chaniecki, P.; Rękas, M.; Miszczyk, J.; Gajda, M.; Kwiatek, W. M.

    2018-01-01

    In this study we present vibrational analysis of healthy (non-affected by cataract) and cataractous human lenses by means of Raman and FTIR spectroscopy methods. The performed analysis provides complex information about the secondary structure of the proteins and conformational changes of the amino acid residues due to the formation of opacification of human lens. Briefly, the changes in the conformation of the Tyr and Trp residues and the protein secondary structure between the healthy and cataractous samples, were recognized. Moreover, the observed spectral pattern suggests that the process of cataract development does not occur uniformly over the entire volume of the lens.

  19. Association of HSP70-2 Gene 1267A/G Polymorphism With Cataract Incidence Among Guilan Population

    Directory of Open Access Journals (Sweden)

    Zivar Salehi

    2017-01-01

    Full Text Available Background: Cataract is a visible opacity of the eye lens and it is the main reason of reversible blindness in the world. Oxidative stress is known as a major factor in cataract formation HSP70-2 protein is a molecular chaperone which is essential for cell survival in stress conditions. HSP70-2 gene is located in the human leukocyte antigen class ΙΙΙ region. This gene encodes an inducible protein. One of the common polymorphism of HSP70-2 is 1267A/G which is located in coding region. The aim of this study was to analysis of 1267A/G polymorphism of hsp70-2 gene in cataract patients. Material and Methods: This case-control study included 118 cataract patients and 122 healthy people as a control groups. Genomic DNA was extracted from peripheral blood leukocytes and genotyping determination was performed by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP method. Statistical analysis was performed by using the MedCalc software (Version 12.1. Results: The frequency of G allele was significantly higher in patients than the controls, (0.36 and 0.24, respectively. A higher frequency of the GG genotype of the HSP70-2 1267A/G polymorphism was found in the patients compared with controls (21.19% and 8.20%, respectively. The patients carrying the GG genotype were 3.2-fold at a higher risk of cataract compared with AA genotype (P=0.005. Conclusion: The finding of this study suggested that the HSP70-2 1267A/G may affect the susceptibility to cataract in the studied population. Anyway the randomized multicenter studies with greater sample size still need to confirmed our results.

  20. Bilateral Electrical Cataract: A Case Report

    Directory of Open Access Journals (Sweden)

    Selçuk Sızmaz

    2011-06-01

    Full Text Available To present a rare complication, such as bilateral cataracts, in a man who sustained a high-voltage electrical injury. A 35- year-old man was admitted with a complaint of decrease in visual acuity. He had a history of a contact with a power line carrying 30.000 volts of electricity while working at a construction site. Examination at a burn center revealed second-degree facial, neck and left foot burns. One month later, the patient underwent amputation of fourth and fifth toes of his left foot. During the next 6 months, he noted decreasing vision in both eyes. Ocular examination 1 year after the accident revealed that the patient’s visual acuity had deteriorated to 1/10 in both eyes. The cornea on the left eye showed superficial punctate opacities. The lenses in both eyes had anterior subcapsular cortical lens opacities and posterior subcapsular opacities. Uncomplicated bilateral phacoemulsification surgery with intraocular lens implantation was performed and the patient’s visual acuity returned to 10/10 in both eyes. We noted that the fundus remained normal in both eyes. Electrical cataracts are still a serious potential complication that may occur after electrical injury. Awareness of this by burn team members is important for providing optimal treatment to those who have suffered an electrical injury. (Turk J Ophthalmol 2011; 41: 197-9

  1. Management of cataract in uveitis patients.

    Science.gov (United States)

    Conway, Mandi D; Stern, Ethan; Enfield, David B; Peyman, Gholam A

    2018-01-01

    This review is timely because the outcomes of surgical invention in uveitic eyes with cataract can be optimized with adherence to strict anti-inflammatory principles. All eyes should be free of any cell/ flare for a minimum of 3 months preoperatively. Another helpful maneuver is to place dexamethasone in the infusion fluid or triamcinolone intracamerally at the end of surgery. Recent reports about the choice of intraocular lens material or lens design are germane to the best surgical outcome. Integrating these findings will promote better visual outcomes and allow advancement in research to further refine these surgical interventions in high-risk uveitic eyes. Control of inflammation has been shown to greatly improve postoperative outcomes in patients with uveitis. Despite better outcomes, more scientific research needs to be done regarding lens placement and materials and further research needs to adhere to the standardized reporting of uveitis nomenclature. Future studies should improve postoperative outcomes in eyes with uveitis so that they approach those of eyes undergoing routine cataract procedures.

  2. How to prevent endophthalmitis in cataract surgeries?

    Directory of Open Access Journals (Sweden)

    Kelkar Aditya

    2008-01-01

    Full Text Available Postoperative endophthalmitis is a very devastating complication and every step should be taken to reduce its occurrence. Unattended air conditioning filter systems are often the culprits and regular maintenance of the filters is of paramount importance. Shedders of pathogenic organisms amongst the theater personnel should be identified by regular screening and should be promptly treated. In addition to the use of Povidone iodine 5% solution in the conjunctival sac few minutes prior to surgery, proper construction of wound, injectable intraocular lenses, use of prophylactic intracameral antibiotics or prophylactic subconjunctival antibiotic injection at the conclusion of cataract surgery, placing a patch after the surgery for at least 4 h and initiating topical antibiotics from the same day of surgery helps to lower the frequency of postoperative endophthalmitis. Intraoperative posterior capsule rupture and anterior vitrectomy are risk factors for acute endophthalmitis, and utmost care to prevent posterior capsular rent should be taken while performing cataract surgery. Also, in case of such complication, these patients should be closely monitored for early signs of endophthalmitis in the postoperative period. In the unfortunate event of endophthalmitis the diagnosis should be prompt and treatment must be initiated as early as possible.

  3. How to prevent endophthalmitis in cataract surgeries?

    Science.gov (United States)

    Kelkar, Jai; Amuaku, Winfried; Kelkar, Uday; Shaikh, Aarofil

    2008-01-01

    Postoperative endophthalmitis is a very devastating complication and every step should be taken to reduce its occurrence. Unattended air conditioning filter systems are often the culprits and regular maintenance of the filters is of paramount importance. Shedders of pathogenic organisms amongst the theater personnel should be identified by regular screening and should be promptly treated. In addition to the use of Povidone iodine 5% solution in the conjunctival sac few minutes prior to surgery, proper construction of wound, injectable intraocular lenses, use of prophylactic intracameral antibiotics or prophylactic subconjunctival antibiotic injection at the conclusion of cataract surgery, placing a patch after the surgery for at least 4 h and initiating topical antibiotics from the same day of surgery helps to lower the frequency of postoperative endophthalmitis. Intraoperative posterior capsule rupture and anterior vitrectomy are risk factors for acute endophthalmitis, and utmost care to prevent posterior capsular rent should be taken while performing cataract surgery. Also, in case of such complication, these patients should be closely monitored for early signs of endophthalmitis in the postoperative period. In the unfortunate event of endophthalmitis the diagnosis should be prompt and treatment must be initiated as early as possible. PMID:18711270

  4. Visual and refractive outcomes of laser cataract surgery.

    Science.gov (United States)

    Chen, Heather; Hyatt, Thomas; Afshari, Natalie

    2014-01-01

    Femtosecond laser is a promising new technology for the field of cataract surgery. Early studies have investigated many factors including visual outcomes, complication rates, and financial overhead costs. This review analyzes the most recent clinical studies of visual and refractive outcomes in laser cataract surgery, including those that make comparisons to outcomes found in conventional phacoemulsification cataract surgery. As femtosecond laser cataract surgery has only emerged recently, there is limited literature available regarding visual outcomes. Most but not all existing studies showed no statistically significant difference in visual acuity and mean absolute refractive error between laser and conventional cataract surgery cases. The majority of studies examined found visual acuity or refractive outcomes of femtosecond laser to be statistically equivalent to those of conventional phacoemulsification cataract surgery. However, the learning curve involved with laser use may account for these early results, which could potentially improve as better technology and surgical techniques are developed. Further long-term outcomes studies are necessary to more accurately evaluate the benefits and drawbacks of femtosecond laser cataract surgery.

  5. Application of intraocular lens in infant cataract surgery

    Directory of Open Access Journals (Sweden)

    Jin-Yan Qi

    2015-10-01

    Full Text Available Cataract extraction and the intraocular lens(IOLimplantation are the first choice to cure children cataract both domestic and overseas so far. However, IOL implantation in the eyes of children, especially in infant, has always been cared by ophthalmologists. Timely implanting IOL after the cataract extraction has played a significant role in terms of the refractive correction, the establishment of visual function, the prevention of amblyopia and the reconstruction of binocular vision. However, on the issue of IOL implantation after cataract extraction, there is always controversy on cataract treatment programs for children, and the focus of the controversy is when the IOL should be implanted. Theoretically, the principle of pediatric cataract surgery is the sooner the better, aiming to remove deprivation factor, open the visual pathway, implant IOL timely, and promote the visual development. How to find both “early” and safe IOL implantation time point is undoubtedly helpful for the rehabilitation of visual function of these children. The issues on the IOL implantation after children cataract extraction both at home and abroad are summarized below.

  6. Evaluation of the macula prior to cataract surgery.

    Science.gov (United States)

    McKeague, Marta; Sharma, Priya; Ho, Allen C

    2018-01-01

    To describe recent evidence regarding methods of evaluation of retinal structure and function prior to cataract surgery. Studies in patients with cataract but no clinically detectable retinal disease have shown that routine use of optical coherence tomography (OCT) prior to cataract surgery can detect subtle macular disease, which may alter the course of treatment or lead to modification of consent. The routine use of OCT has been especially useful in patients being considered for advanced-technology intraocular lenses (IOLs) as subtle macular disease can be a contraindication to the use of these lenses. The cost-effectiveness of routine use of OCT prior to cataract surgery has not been studied. Other technologies that assess retinal function rather than structure, such as microperimetry and electroretinogram (ERG) need further study to determine whether they can predict retinal potential in cataract patients. There is growing evidence for the importance of more detailed retinal evaluation of cataract patients even with clinically normal exam. OCT has been the most established and studied method for retinal evaluation in cataract patients, but other technologies such as microperimetry and ERG are beginning to be studied.

  7. Antioxidant Capacity of Lenses with Age-Related Cataract

    Directory of Open Access Journals (Sweden)

    Bojana Kisic

    2012-01-01

    Full Text Available The immediate cause of the occurrence of cataract is unknown, but oxidative damage and effects of reactive oxygen species are considered important in its etiopathogenesis. Our research was aimed at testing the nonenzyme antioxidant power of corticonuclear lens blocks, with different types and different maturity of age-related cataract. Clinical and biochemical researches were carried out in 101 patients with age-related cataract. In corticonuclear lens blocks of the patient, the concentration of nonprotein and total-SH groups and the concentration of total vitamin C and dehydroascorbic acid (DHA were determined; the current redox balance of dehydroascorbate/ascorbate and total antioxidant power measured by ferric-reducing ability were examined. In corticonuclear lens blocks with incipient cataract a significantly higher concentration of GSH, total SH groups, concentration of total vitamin C and ascorbic acid (AA, and ferric-reducing ability were measured. The measured concentration of DHA is higher than the concentration of AA in the lenses with the incipient and mature cataract. The concentration ratio of redox couple DHA/AA is higher in lenses with mature cataract, where the measured concentration of AA was lower than in the incipient cataract. Timely removal of DHA from the lens is important because of its potential toxicity as an oxidant. An increase of the current concentration of DHA/AA redox balance can be an indicator of oxidative stress.

  8. Time series analysis of age related cataract hospitalizations and phacoemulsification

    Directory of Open Access Journals (Sweden)

    Moineddin Rahim

    2006-01-01

    Full Text Available Abstract Background Cataract surgery remains a commonly performed elective surgical procedure in the aging and the elderly. The purpose of this study was to utilize time series methodology to determine the temporal and seasonal variations and the strength of the seasonality in age-related (senile cataract hospitalizations and phacoemulsification surgeries. Methods A retrospective, cross-sectional time series analysis was used to assess the presence and strength of seasonal and temporal patterns of age-related cataract hospitalizations and phacoemulsification surgeries from April 1, 1991 to March 31, 2002. Hospital admission rates for senile cataract (n = 70,281 and phacoemulsification (n = 556,431 were examined to determine monthly rates of hospitalization per 100,000 population. Time series methodology was then applied to the monthly aggregates. Results During the study period, age-related cataract hospitalizations in Ontario have declined from approximately 40 per 100,000 to only one per 100,000. Meanwhile, the use of phacoemulsification procedures has risen dramatically. The study found evidence of biannual peaks in both procedures during the spring and autumn months, and summer and winter troughs. Statistical analysis revealed significant overall seasonal patterns for both age-related cataract hospitalizations and phacoemulsifications (p Conclusion This study illustrates the decline in age-related cataract hospitalizations in Ontario resulting from the shift to outpatient phacoemulsification surgery, and demonstrates the presence of biannual peaks (a characteristic indicative of seasonality, in hospitalization and phacoemulsification during the spring and autumn throughout the study period.

  9. The Effect of Cataract on Eye Movement Perimetry

    Science.gov (United States)

    Thepass, G.; Pel, J. J. M.; Vermeer, K. A.; Creten, O.; Bryan, S. R.; Lemij, H. G.; van der Steen, J.

    2015-01-01

    Purpose. To determine how different grades of cataract affect sensitivity threshold and saccadic reaction time (SRT) in eye movement perimetry (EMP). Methods. In EMP, the visual field is tested by assessing the saccades that a subject makes towards peripheral stimuli using an eye tracker. Forty-eight cataract patients underwent pre- and postoperative EMP examination in both eyes. The subjects had to fix a central stimulus presented on the eye tracker monitor and to look at any detected peripheral stimulus upon its appearance. A multilevel mixed model was used to determine the factors that affected the sensitivity threshold and the SRT as a function of cataract grade. Results. We found no effect of cataract severity (LOCS III grades I through IV) on SRT and the sensitivity thresholds. In cataract of LOCS III grade V, however, we found an increase by 27% and 21% (p < 0.001), respectively, compared to the SRT and the sensitivity threshold in LOCS III grade I. Eyes that underwent cataract surgery showed no change in mean SRTs and sensitivity thresholds after surgery in LOCS III grade IV and lower. Conclusion. The present study shows that EMP can be readily used in patients with cataract with LOCS III grade IV and below. PMID:26078873

  10. The Effect of Cataract on Eye Movement Perimetry

    Directory of Open Access Journals (Sweden)

    G. Thepass

    2015-01-01

    Full Text Available Purpose. To determine how different grades of cataract affect sensitivity threshold and saccadic reaction time (SRT in eye movement perimetry (EMP. Methods. In EMP, the visual field is tested by assessing the saccades that a subject makes towards peripheral stimuli using an eye tracker. Forty-eight cataract patients underwent pre- and postoperative EMP examination in both eyes. The subjects had to fix a central stimulus presented on the eye tracker monitor and to look at any detected peripheral stimulus upon its appearance. A multilevel mixed model was used to determine the factors that affected the sensitivity threshold and the SRT as a function of cataract grade. Results. We found no effect of cataract severity (LOCS III grades I through IV on SRT and the sensitivity thresholds. In cataract of LOCS III grade V, however, we found an increase by 27% and 21% (p<0.001, respectively, compared to the SRT and the sensitivity threshold in LOCS III grade I. Eyes that underwent cataract surgery showed no change in mean SRTs and sensitivity thresholds after surgery in LOCS III grade IV and lower. Conclusion. The present study shows that EMP can be readily used in patients with cataract with LOCS III grade IV and below.

  11. Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.

    Science.gov (United States)

    de Souza, Paulo Victor Sgobbi; de Rezende Pinto, Wladimir Bocca Vieira; de Rezende Batistella, Gabriel Novaes; Bortholin, Thiago; Oliveira, Acary Souza Bulle

    2017-04-01

    Hereditary spastic paraplegia comprises a wide and heterogeneous group of inherited neurodegenerative and neurodevelopmental disorders resulting from primary retrograde dysfunction of the long descending fibers of the corticospinal tract. Although spastic paraparesis and urinary dysfunction represent the most common clinical presentation, a complex group of different neurological and systemic compromise has been recognized recently and a growing number of new genetic subtypes were described in the last decade. Clinical characterization of individual and familial history represents the main step during diagnostic workup; however, frequently, few and unspecific data allows a low rate of definite diagnosis based solely in clinical and neuroimaging basis. Likewise, a wide group of neurological acquired and inherited disorders should be included in the differential diagnosis and properly excluded after a complete laboratorial, neuroimaging, and genetic evaluation. The aim of this review article is to provide an extensive overview regarding the main clinical and genetic features of the classical and recently described subtypes of hereditary spastic paraplegia (HSP).

  12. Hereditary spastic paraplegia with cerebellar ataxia

    DEFF Research Database (Denmark)

    Nielsen, J E; Johnsen, B; Koefoed, P

    2004-01-01

    Complex forms of hereditary spastic paraplegia (HSP) are rare and usually transmitted in an autosomal recessive pattern. A family of four generations with autosomal dominant hereditary spastic paraplegia (AD-HSP) and a complex phenotype with variably expressed co-existing ataxia, dysarthria...... in those individuals who were clinically affected by a complex phenotype consisting of HSP and cerebellar ataxia. Other features noted in this kindred including epilepsy, cognitive impairment, depression, and migraine did not segregate with the HSP phenotype or mutation, and therefore the significance...... relatively decreased regional cerebral blood flow in most of the cerebellum. We conclude that this kindred demonstrates a considerable overlap between cerebellar ataxia and spastic paraplegia, emphasizing the marked clinical heterogeneity of HSP associated with spastin mutations....

  13. [Hereditary angioedema: strange cause of abdominal pain].

    Science.gov (United States)

    Salas-Lozano, Nereo Guillermo; Meza-Cardona, Javier; González-Fernández, Coty; Pineda-Figueroa, Laura; de Ariño-Suárez, Mauricio

    2014-01-01

    Hereditary angioedema is an episodic swelling disorder with autosomal dominant inheritance characterized by sudden attacks of peripheral swelling. Patients also commonly have episodic swelling of the wall of hollow viscera, including the bowel. We present a 33-year-old previously healthy male with a complaint of acute-onset intense abdominal pain localized in the epigastrium. Pain irradiated to the right lower quadrant and was associated with five episodes of vomiting. Computed tomography showed thickening of the duodenal wall with liquid in the subphrenic space. Complementary laboratory tests showed low C4 complement levels (5.5 mg/dl) and 30% complement C1 inhibitor activity. Hereditary angioedema is caused by a deficiency (type I) or dysfunction (type II) in complement C1 inhibitor. Abdominal associated with angioedema may manifest as severe acute-onset abdominal pain or as moderately severe chronic recurrent abdominal pain. Two medications are currently FDA-approved for the treatment of these patients.

  14. Disease expression in women with hereditary angioedema

    DEFF Research Database (Denmark)

    Bouillet, Laurence; Longhurst, Hilary; Boccon-Gibod, Isabelle

    2008-01-01

    OBJECTIVE: Fluctuations in sex hormones can trigger angioedema attacks in women with hereditary angioedema. Combined oral contraceptive therapies, as well as pregnancy, can induce severe attacks. The course of angioedema may be very variable in different women. STUDY DESIGN: Within the PREHAEAT...... project launched by the European Union, data on 150 postpubertal women with hereditary angioedema were collected in 8 countries, using a patient-based questionnaire. RESULTS: Puberty worsened the disease for 62%. Combined oral contraceptives worsened the disease for 79%, whereas progestogen-only pills...... improved it for 64%. During pregnancies, 38% of women had more attacks, but 30% had fewer attacks. Vaginal delivery was usually uncomplicated. Attacks occurred within 48 hours in only 6% of cases. Those more severely affected during menses had more symptoms during pregnancies, suggesting a hormone...

  15. [Asymptomatic classical hereditary xanthinuria type 1].

    Science.gov (United States)

    Yakubov, Renata; Nir, Vered; Kassem, Eiass; Klein-Kremer, Adi

    2012-06-01

    We report on a girl who was diagnosed with classical hereditary xanthinuria due to an incidental finding of extremely low Levels of uric acid in the blood. The girl is compLetely asymptomatic. Hereditary xanthinuria is a rare autosomal recessive disease that usually causes early urolithiasis but may cause rheumatoid arthritis-like disease and even be associated with defects in the formation of bone, hair and teeth. In Israel it has mostly been described in patients of Bedouin origin. Throughout the world, only about 150 cases have been described; about two thirds of these patients were asymptomatic. Since the clinical presentation and age of symptom appearance are diverse, the case raises questions as to the required follow-up of these patients and as to whether a low oxalate diet should be initiated.

  16. CRISPR/Cas9-Mediated Mutation of αA-Crystallin Gene Induces Congenital Cataracts in Rabbits.

    Science.gov (United States)

    Yuan, Lin; Yao, Haobin; Xu, Yuxin; Chen, Mao; Deng, Jichao; Song, Yuning; Sui, Tingting; Wang, Yong; Huang, Yongye; Li, Zhanjun; Lai, Liangxue

    2017-05-01

    cataracts in humans.

  17. MRSA and cataract surgery – reflections for practice

    Directory of Open Access Journals (Sweden)

    LF Porter

    2010-10-01

    Full Text Available LF Porter1, RU Khan2, A Hannan3, SP Kelly11Royal Bolton Hospital NHS Foundation Trust, Bolton, UK; 2Departments of Microbiology, Royal Bolton Hospital NHS Foundation Trust, Bolton, UK; 3Haughton Thornley Medical Centers, NHS Tameside and Glossop, UKIntroduction: Postoperative bacterial endophthalmitis is a devastating complication of cataract surgery. Methicillin-resistant Staphylococcus aureus (MRSA endophthalmitis is rare. Recent debate over MRSA screening in United Kingdom (UK National Health Service (NHS hospital services has implications for cataract patients and ophthalmology services.Aims: To discuss issues for clinical practice as based on reflective experience at a UK district general NHS hospital in relation to care of MRSA-positive cataract patients.Methods: Retrospective case series and reflective practice.Results: Three cases presented highlight practice points around cataract patients colonized with MRSA. Known or determined MRSA-colonized patients should be treated with anti-microbial agents at time of cataract surgery known to be active against MRSA. Preventative treatment with intracameral vancomycin or intravenous teicoplanin alongside appropriate topical treatments may be of merit. Importantly fluoroquinolones, often prescribed by cataract surgeons, may have a selective effect favoring the proliferation of MRSA.Conclusion: MRSA screening may cause unnecessary delays in cataract care and may represent a patient safety concern in its own right. Patients colonized with MRSA may safely undergo cataract surgery provided there is no evidence of periorbital infection and provided appropriate infection control and antibiotic prophylaxis measures are used. The well-prepared cataract surgeon needs to be aware of developments in infection control and should liaise with local clinical microbiology colleagues in relation to bacterial resistance to antibiotics.Keywords: methicillin-resistant Staphylococcus aureus (MRSA, endophthalmitis

  18. HEREDITARY FRUCTOSE INTOLERANCE – CASE REPORT

    OpenAIRE

    Jernej Brecelj; Gordana Logar-Car; Henrik Peče

    2002-01-01

    Background. Hereditary fructose intolerance is a rare inborn error of carbohydrate metabolism that presents with hypoglicemia, metabolic acidosis and liver decompensation when the patient is exposed to fructose. Diagnosis was established by fructose tolerance test in the past and nowadays mostly by determination of deficient enzyme fructose-1phosphate aldolase (aldolase B) activity in hepatic tissue or by molecular genetic means if the mutation is known. Treatment involves elimination (in inf...

  19. Nuclear matrix proteins and hereditary diseases.

    Science.gov (United States)

    Sjakste, N; Sjakste, T

    2005-03-01

    The review summarizes literature data on alterations of structure or expression of different nuclear matrix proteins in hereditary syndromes. From the point of view of involvement of nuclear matrix proteins in etiology and pathogenesis of the disease hereditary pathologies can be classified in pathologies with pathogenesis associated with defects of nuclear matrix proteins and pathologies associated to changes of the nuclear matrix protein spectrum. The first group includes laminopathies, hereditary diseases with abnormal nuclear-matrix associated proteins and triplet extension diseases associated with accumulation of abnormal proteins in the nuclear matrix. Laminopathies are hereditary diseases coupled to structural defects of the nuclear lamina. These diseases include Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy (DCM) with conduction system disease, familial partial lipodystrophy (FPLD), autosomal recessive axonal neuropathy (Charcot-Marie-Tooth disorder type 2, CMT2), mandibuloacral dysplasia (MAD), Hutchison Gilford Progeria syndrome (HGS), Greenberg Skeletal Dysplasia, and Pelger-Huet anomaly (PHA). Most of them are due to mutations in the lamin A/C gene, one - to mutations in emerin gene, some are associated with mutations in Lamin B receptor gene. In Werner's, Bloom's, Cockayne's syndromes, Fanconi anemia, multiple carboxylase deficiency mutations in nuclear matrix protein or enzyme gene lead to deficient DNA repair, abnormal regulation of cell growth and differentiation or other specific metabolic functions. Proteins with a long polyglutamic tract synthesized in the cells of patients with dentato-rubral and pallido-luysian atrophy, myotonic dystrophy and Huntington disease interfere with transcription on the nuclear matrix. Down's syndrome is a representative of the group of diseases with altered nuclear matrix protein spectrum.

  20. [Hereditary xanthinuria. A clinical case report].

    Science.gov (United States)

    Pessano, B; Davì, S; La Brocca, A; Leone, L

    1989-05-01

    A case of hereditary xanthinuria in a 68-year-old man with congestive heart failure and alcoholic liver disease is presented. Urolithiasis and muscular symptoms were absent, and the metabolic error was revealed by hypouricemia, hypouricosuria and excess of xanthine and hypoxanthine excretion in urine. Xanthine oxidase (EC 1.2.3.2) activity in liver tissue was absent, confirming the diagnosis of xanthinuria.

  1. Unilateral, Isolated, Paediatric Lightning-Induced Cataract: A Case Report

    Directory of Open Access Journals (Sweden)

    G. J. Rogers

    2011-01-01

    Full Text Available A six-year-old girl presented with gradual loss of vision in the left eye a year after sustaining a lightning strike while in her home. Examination revealed healed burns to her cheek, left arm, and right leg and a dense left cataract. There was no evidence of other ocular sequelae, and her right eye was normal. Cataract surgery and lens implantation were performed on the left eye with good results. Isolated, unilateral, paediatric cataract due to lightning is discussed.

  2. Cataract in early onset and classic Cockayne syndrome.

    Science.gov (United States)

    Ferreira, R C; Roeder, E R; Bateman, J B

    1997-12-01

    To describe cataracts in classic and early onset Cockayne syndrome (CS). Classic CS typically has an onset after the first year of life; intrauterine growth failure and severe neurologic dysfunction from birth distinguishes the less common early onset CS from the classic form. A complete ophthalmic evaluation was performed in four affected patients, one with the early onset and three with classic CS. We report cataract in all patients and glaucoma in one, the latter never previously reported in CS. CS should be considered in babies with low birth weight and congenital cataract.

  3. Ocular safety limits for 1030nm femtosecond laser cataract surgery

    Science.gov (United States)

    Wang, Jenny; Sramek, Christopher; Paulus, Yannis M.; Lavinsky, Daniel; Schuele, Georg; Anderson, Dan; Dewey, David; Palanker, Daniel V.

    2013-03-01

    Application of femtosecond lasers to cataract surgery has added unprecedented precision and reproducibility but ocular safety limits for the procedure are not well-quantified. We present an analysis of safety during laser cataract surgery considering scanned patterns, reduced blood perfusion, and light scattering on residual bubbles formed during laser cutting. Experimental results for continuous-wave 1030 nm irradiation of the retina in rabbits are used to calibrate damage threshold temperatures and perfusion rate for our computational model of ocular heating. Using conservative estimates for each safety factor, we compute the limits of the laser settings for cataract surgery that optimize procedure speed within the limits of retinal safety.

  4. Anterior internal lenticonus accompanied by congenital nuclear cataract.

    Science.gov (United States)

    Liu, Zhe; Sun, Chuan-Bin; Yao, Ke

    2011-12-01

    Internal lenticonus is a very rare morphologic abnormality of crystalline lens which has been reported in only several cases in the literature. We herein reported the clinical characteristics and surgical findings of the anterior internal lenticonus accompanied by congenital nuclear cataract. Cataract extraction accompanied with intraocular lens implantation was uneventfully performed, and a good visual outcome was achieved in this case. Viral infection during embryonal and fetal period might account for the formation of the anterior internal lenticonus and congenital nuclear cataract in our case.

  5. Ultrashort-Pulse Lasers Treating the Crystalline Lens: Will They Cause Vision-Threatening Cataract? (An American Ophthalmological Society Thesis)

    Science.gov (United States)

    Krueger, Ronald R.; Uy, Harvey; McDonald, Jared; Edwards, Keith

    2012-01-01

    Purpose: To demonstrate that ultrashort-pulse laser treatment in the crystalline lens does not form a focal, progressive, or vision-threatening cataract. Methods: An Nd:vanadate picosecond laser (10 ps) with prototype delivery system was used. Primates: 11 rhesus monkey eyes were prospectively treated at the University of Wisconsin (energy 25–45 μJ/pulse and 2.0–11.3M pulses per lens). Analysis of lens clarity and fundus imaging was assessed postoperatively for up to 4½ years (5 eyes). Humans: 80 presbyopic patients were prospectively treated in one eye at the Asian Eye Institute in the Philippines (energy 10 μJ/pulse and 0.45–1.45M pulses per lens). Analysis of lens clarity, best-corrected visual acuity, and subjective symptoms was performed at 1 month, prior to elective lens extraction. Results: Bubbles were immediately seen, with resolution within the first 24 to 48 hours. Afterwards, the laser pattern could be seen with faint, noncoalescing, pinpoint micro-opacities in both primate and human eyes. In primates, long-term follow-up at 4½ years showed no focal or progressive cataract, except in 2 eyes with preexisting cataract. In humans, 70% reported acceptable or better distance vision and no or mild symptoms. Meanwhile, >70% without sparing (0 and 0.5 mm radius) lost 2 or more lines, and most reported poor or severe vision and symptoms. Conclusions: Focal, progressive, and vision-threatening cataracts can be avoided by lowering the laser energy, avoiding prior cataract, and sparing the center of the lens. PMID:23818739

  6. Hereditary cerebral small vessel disease and stroke.

    Science.gov (United States)

    Søndergaard, Christian Baastrup; Nielsen, Jørgen Erik; Hansen, Christine Krarup; Christensen, Hanne

    2017-04-01

    Cerebral small vessel disease is considered hereditary in about 5% of patients and is characterized by lacunar infarcts and white matter hyperintensities on MRI. Several monogenic hereditary diseases causing cerebral small vessel disease and stroke have been identified. The purpose of this systematic review is to provide a guide for determining when to consider molecular genetic testing in patients presenting with small vessel disease and stroke. CADASIL, CARASIL, collagen type IV mutations (including PADMAL), retinal vasculopathy with cerebral leukodystrophy, Fabry disease, hereditary cerebral hemorrhage with amyloidosis, and forkhead box C1 mutations are described in terms of genetics, pathology, clinical manifestation, imaging, and diagnosis. These monogenic disorders are often characterized by early-age stroke, but also by migraine, mood disturbances, vascular dementia and often gait disturbances. Some also present with extra-cerebral manifestations such as microangiopathy of the eyes and kidneys. Many present with clinically recognizable syndromes. Investigations include a thorough family medical history, medical history, neurological examination, neuroimaging, often supplemented by specific examinations e.g of the of vision, retinal changes, as well as kidney and heart function. However molecular genetic analysis is the final gold standard of diagnosis. There are increasing numbers of reports on new monogenic syndromes causing cerebral small vessel disease. Genetic counseling is important. Enzyme replacement therapy is possible in Fabry disease, but treatment options remain overall very limited. Copyright © 2017 Elsevier B.V. All rights reserved.

  7. Medical Management of Hereditary Optic Neuropathies

    Science.gov (United States)

    La Morgia, Chiara; Carbonelli, Michele; Barboni, Piero; Sadun, Alfredo Arrigo; Carelli, Valerio

    2014-01-01

    Hereditary optic neuropathies are diseases affecting the optic nerve. The most common are mitochondrial hereditary optic neuropathies, i.e., the maternally inherited Leber’s hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA). They both share a mitochondrial pathogenesis that leads to the selective loss of retinal ganglion cells and axons, in particular of the papillo-macular bundle. Typically, LHON is characterized by an acute/subacute loss of central vision associated with impairment of color vision and swelling of retinal nerve fibers followed by optic atrophy. DOA, instead, is characterized by a childhood-onset and slowly progressive loss of central vision, worsening over the years, leading to optic atrophy. The diagnostic workup includes neuro-ophthalmologic evaluation and genetic testing of the three most common mitochondrial DNA mutations affecting complex I (11778/ND4, 3460/ND1, and 14484/ND6) for LHON and sequencing of the nuclear gene OPA1 for DOA. Therapeutic strategies are still limited including agents that bypass the complex I defect and exert an antioxidant effect (idebenone). Further strategies are aimed at stimulating compensatory mitochondrial biogenesis. Gene therapy is also a promising avenue that still needs to be validated. PMID:25132831

  8. Medical management of hereditary optic neuropathies

    Directory of Open Access Journals (Sweden)

    Chiara eLa Morgia

    2014-07-01

    Full Text Available Hereditary optic neuropathies are diseases of the optic nerve. The most common are mitochondrial hereditary optic neuropathies, i.e. the maternally inherited Leber’s Hereditary Optic Neuropathy (LHON and Dominant Optic Atrophy (DOA. They both share a mitochondrial pathogenesis that leads to the selective loss of retinal ganglion cells and axons, in particular of the papillo-macular bundle. Typically, LHON is an acute/subacute loss of central vision associated with impairment of color vision and swelling of retinal nerve fibers followed by optic atrophy. DOA, instead, is characterized by a childhood-onset and slowly progressive loss of central vision, worsening over the years, leading to optic atrophy. The diagnostic workup includes neuro-ophthalmologic evaluation and genetic testing of the three most common mitochondrial DNA mutations affecting complex I (11778/ND4, 3460/ND1 and 14484/ND6 for LHON and sequencing of the nuclear gene OPA1 for DOA. Therapeutic strategies are limited including agents that bypass the complex I defect and exert an antioxidant effect (idebenone. Further strategies are aimed at stimulating compensatory mitochondrial biogenesis. Gene therapy is also a promising venue that still needs to be validated.

  9. Cataract blindness and barriers to cataract surgical intervention in three rural communities of Oyo State, Nigeria.

    Science.gov (United States)

    Oluleye, T S

    2004-01-01

    The study was a community based field survey that used a rapid assessment method to determine the prevalence of cataract blindness in people aged 50 years and above in 3 rural communities. The purpose of the study was to determine the prevalence of cataract blindness and barriers to cataract surgical intervention in an area served by a health facility managed by a tertiary institution. Abedo, Akinyele and Ketepe Villages in Akinyele Local Government Area of Oyo State Nigeria were selected based on their nearness to the primary health care centre in Abedo. A total of 477 persons aged 50 years and above were seen being 73.3 percent of expected. Those with visual acuity of less than 3/60 in an eye and those with visual acuity of less than 3/60 in the better eye were examined in more details using a pen torch, an ophthalmoscope and tonometer to determine the cause of blindness. All persons who have had surgery were examined. The prevalence of blindness in persons aged 50 years and above was 1.47% and that of cataract blindness in the same age group in the villages was 0.84% constituting 57.14% of blindness. The main barriers to hospital presentation were cost of surgery (52.8%) and distance to hospital (33.8%). The constraints and limitations encountered during the study included rural-urban migration and population discrepancies between what obtained at the villages and those supplied by the Local Government Population Commission. It is hoped that this study will serve as a preliminary survey and a base line for further studies and the initiation of a blindness prevention programme in the area.

  10. Hereditary Risk Evaluation for Borderline Ovarian Tumors Based on Immunohistochemistry

    OpenAIRE

    Park, Jung Min; Kim, Min Kyu

    2014-01-01

    Objectives Borderline ovarian tumors (BOT) are premalignant lesions. Approximately 10% of all epithelial ovarian cancers are known to be hereditary with hereditary breast and ovarian cancer (HBOC) accounting for approximately 90% of cases; the remaining 10% are attributable to Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC). The aim of our study is to estimate this risk based on screening immunohistochemistry (IHC). Methods Thirty-four patients diagnosed with B...

  11. Prevalence of Age-Related Cataract and Cataract Surgery in a Chinese Adult Population: The Taizhou Eye Study.

    Science.gov (United States)

    Tang, Yating; Wang, Xiaofeng; Wang, Jiucun; Huang, Wei; Gao, Yaping; Luo, Yi; Yang, Jin; Lu, Yi

    2016-03-01

    To study the prevalence of age-related cataract (ARC), cataract surgery, and visual outcomes in a Chinese adult population in Taizhou, China. A population-based, cross-sectional study was conducted using a random cluster sampling method. We evaluated 10,234 eligible subjects 45 years or older (response rate 78.1%) in the Taizhou Eye Study. We conducted a detailed eye examination in all participants, including presenting visual acuity (PVA), best-corrected visual acuity (BCVA), slit-lamp assessment of lens opacities using the Lens Opacities Classification System III (LOCS III), and fundus examination. The standardized prevalences of cortical, nuclear, and posterior subcapsular cataract (PSC) were 28.6%, 24.3%, and 4.4%, respectively, and combined nuclear and cortical cataract was the most common cataract type (40.0%). According to the US visual impairment (VI) criteria and World Health Organization VI criteria, 40.6% and 21.8% of PSC participants had binocular VI, respectively; these values were higher than the VI rates in cortical and nuclear cataract (all P surgeries, 41.2% had PVA surgery were ocular comorbidities (41.3%), uncorrected refractive error (30.0%), surgical complications (15.0%), and posterior capsular opacification (PCO; 13.7%). The high prevalence of cataract and high rate of VI from ARC in the adult Chinese population remains a severe public health problem. Cataract surgery remains insufficient in mainland China and poor visual outcomes were frequent. Surgical complications and PCO were important avoidable causes that attributed to poor visual outcomes after cataract surgeries.

  12. Genetic and phenotypic characterization of complex hereditary spastic paraplegia

    National Research Council Canada - National Science Library

    Kara, Eleanna; Tucci, Arianna; Manzoni, Claudia; Lynch, David S; Elpidorou, Marilena; Bettencourt, Conceicao; Chelban, Viorica; Manole, Andreea; Hamed, Sherifa A; Haridy, Nourelhoda A; Federoff, Monica; Preza, Elisavet; Hughes, Deborah; Pittman, Alan; Jaunmuktane, Zane; Brandner, Sebastian; Xiromerisiou, Georgia; Wiethoff, Sarah; Schottlaender, Lucia; Proukakis, Christos; Morris, Huw; Warner, Tom; Bhatia, Kailash P; Korlipara, L V Prasad; Singleton, Andrew B; Hardy, John; Wood, Nicholas W; Lewis, Patrick A; Houlden, Henry

    2016-01-01

    The hereditary spastic paraplegias are a heterogeneous group of degenerative disorders that are clinically classified as either pure with predominant lower limb spasticity, or complex where spastic...

  13. HEREDITARY COLORECTAL CANCER REGISTRY: A CLEVELAND CLINIC FOUNDATION EXPERIENCE

    Directory of Open Access Journals (Sweden)

    J Church, MBCHB

    2017-07-01

    SUMMARY: the Cleveland Clinic approach to hereditary colorectal cancer is described. This is multidisciplinary, involving several specialties and both genetic counseling and mental health services within the registry.

  14. Oestrogens ameliorate mitochondrial dysfunction in Leber's hereditary optic neuropathy

    National Research Council Canada - National Science Library

    Giordano, Carla; Montopoli, Monica; Perli, Elena; Orlandi, Maurizia; Fantin, Marianna; Ross-Cisneros, Fred N; Caparrotta, Laura; Martinuzzi, Andrea; Ragazzi, Eugenio; Ghelli, Anna; Sadun, Alfredo A; d'Amati, Giulia; Carelli, Valerio

    2011-01-01

    Leber's hereditary optic neuropathy, the most frequent mitochondrial disease due to mitochondrial DNA point mutations in complex I, is characterized by the selective degeneration of retinal ganglion...

  15. Antiretroviral therapy-induced Leber's hereditary optic neuropathy

    National Research Council Canada - National Science Library

    Moodley, A; Bhola, S; Omar, F; Mogambery, J

    2014-01-01

    .... Individuals with the mutation for Leber's hereditary optic neuropathy (LHON), a mitochondrial disorder, are usually asymptomatic but develop visual loss when exposed to external triggers such as smoking...

  16. INTRACORNEAL AND SCLERAL CYST FOLLOWING CATARACT EXTRACTION

    Directory of Open Access Journals (Sweden)

    Gabriel van Rij

    2002-12-01

    Full Text Available Background. A six-year-old boy presented with a large progressive intracorneal and scleral cyst. Two years before, bilateral cataract surgery through a 6.5-mm corneal incision was performed elsewhere.Methods. The posterior wall of the cyst could be excised, as well as the anterior wall in the sclera. Upon histo-pathology the cyst wall was lined by epithelium. The epithelial cells of the anterior side in the cornea were removed with a curette and a corpus alienum drill. Three and a half years after removal of the cyst, there was no recurrence. Visual acuity was 0.8. Conclusions. An intracorneal and scleral inclusion cyst was successfully removed by surgical excision and the removal of epithelial cells by a curette and a corpus alienum drill.

  17. The risk of cataract in relation to metal arc welding

    DEFF Research Database (Denmark)

    Slagor, Rebekka Michaelsen; Dornonville de la Cour, Morten; Bonde, Jens Peter

    2016-01-01

    Objectives: There are indications that solar ultraviolet radiation (UVR) increases the risk of cataract, but there is only circumstantial evidence that metal welding, an important occupational source of UVR exposure, is a risk factor. The objective of this study is to unravel if metal welding......, information on welding was collected from questionnaires and, for both cohorts, information about cataract diagnosis and operation was gathered from Danish national registers. Using Cox regression analysis, the hazard ratio (HR) for cataract diagnosis and/or operation was calculated in the follow-up period.......95–1.21] and the adjusted HR was 1.08 (95% CI 0.95–1.22). Age and diabetes were as expected strong risk factors. Conclusion: We found no increased risk of developing cataract among Danish metal welders who worked with arc welding from 1950–1985. This may be attributed to the effectiveness of personal safety equipment....

  18. Change in vision, visual disability, and health after cataract surgery

    National Research Council Canada - National Science Library

    Helbostad, Jorunn L; Oedegaard, Maria; Lamb, Sarah E; Delbaere, Kim; Lord, Stephen R; Sletvold, Olav

    2013-01-01

    .... We investigated if vision, visual functioning, and general health follow the same trajectory of change the year after cataract surgery and if changes in vision explain changes in visual disability and general health...

  19. Six year Trend in Cataract Surgical Techniques in Iran

    Science.gov (United States)

    Hashemi, Hassan; Alipour, Fatemeh; Mehravaran, Shiva; Rezvan, Farhad; Alaeddini, Farshid; Fotouhi, Akbar

    2011-01-01

    Purpose To determine the cataract surgery techniques performed in Iran from 2000 to 2005. Materials and Methods This study was part of the Iranian Cataract Surgery Survey (ICSS) which was a retrospective cross-sectional study. All major ocular surgery units and 10% of randomly selected minor units throughout Iran were included. Excluding the 2 week Iranian New Year holiday, 1 week per season between 2000 and 2005 (a total of 24 weeks) was selected for each center, and data on all cataract surgeries performed during these weeks were collected by reviewing patient records. The ANOVA repeated measure test was performed to determine longitudinal changes with a P0.05). Conclusion Phacoemulsification with IOL implantation has become the preferred cataract surgery method in Iran during recent years. PMID:21731326

  20. N-acetylcarnosine (NAC) drops for age-related cataract.

    Science.gov (United States)

    Dubois, Vincent Dj-P; Bastawrous, Andrew

    2017-02-28

    Cataract is the leading cause of world blindness. The only available treatment for cataract is surgery. Surgery requires highly-trained individuals with expensive operating facilities. Where these are not available, patients go untreated. A form of treatment that did not involve surgery would be a useful alternative for people with symptomatic cataract who are unable or unwilling to undergo surgery. If an eye drop existed that could reverse or even prevent progression of cataract, then this would be a useful additional treatment option.Cataract tends to result from oxidative stress. The protein, L-carnosine, is known to have an antioxidant effect on the cataractous lens, so biochemically there is sound logic for exploring L-carnosine as an agent to reverse or even prevent progression of cataract. When applied as an eye drop, L-carnosine cannot penetrate the eye. However, when applied to the surface of the eye, N-acetylcarnosine (NAC) penetrates the cornea into the front chamber of the eye (near to where the cataract is), where it is metabolised into L-carnosine. Hence, it is possible that use of NAC eye drops may reverse or even prevent progression of cataract, thereby improving vision and quality of life. To assess the effectiveness of NAC drops to prevent or reverse the progression of cataract. We searched CENTRAL (which contains the Cochrane Eyes and Vision Trials Register) (2016, Issue 6), Ovid MEDLINE, Ovid MEDLINE In-Process and Other Non-Indexed Citations, Ovid MEDLINE Daily, Ovid OLDMEDLINE (January 1946 to June 2016), Embase (January 1980 to June 2016), Allied and Complementary Medicine Database (AMED) (January 1985 to June 2016), Cumulative Index to Nursing and Allied Health Literature (CINAHL) (1982 to June 2016), the ISRCTN registry (www.isrctn.com/editAdvancedSearch), ClinicalTrials.gov (www.clinicaltrials.gov) and the World Health Organization (WHO) International Clinical Trials Registry Platform (ICTRP) (www.who.int/ictrp/search/en). We did not use

  1. Nutraceuticals in prevention of cataract – An evidence based approach

    Directory of Open Access Journals (Sweden)

    Amandeep Kaur

    2017-01-01

    Full Text Available Cataract is a principal cause of blindness in the world and is characterized by clouding of eye’s natural lens. Surgery is the major therapeutic step taken to cure cataract; however, it is having its own limitations and complications such as iris prolapse, raised IOP, infection, cystoid macular edema and posterior capsular opacification (PCO. So world is looking toward more robust and natural ways to prevent cataract. One of the important factors that can play a role in prevention of any and many diseases is diet of the people. The inclusion of certain naturally occurring food and nutraceuticals is coming up as a best alternative for curing cataract because of their presumed safety, potential nutritional and therapeutic effects. Some nutraceuticals can act as an anticataract agent through some or the other molecular mechanism if consumed by normal population deliberately or inadvertently.

  2. An Assessment of surgical outcome amongst 246 cataract ...

    African Journals Online (AJOL)

    Windows2G

    ensures that the patient has adequate post op vision for his needs. Adequate ... to lack of awareness of the cataract blind, fear of ... comparing outcome of care using ICCE/ ECCE to that ... Chloranphenicol or Gentamycin, oral diazepam 5mg at.

  3. Randomised, single-masked non-inferiority trial of femtosecond laser-assisted versus manual phacoemulsification cataract surgery for adults with visually significant cataract : the FACT trial protocol

    NARCIS (Netherlands)

    Day, Alexander C; Burr, Jennifer M; Bunce, Catey; Doré, Caroline J; Sylvestre, Yvonne; Wormald, Richard P L; Round, Jeff; McCudden, Victoria; Rubin, Gary; Wilkins, Mark R; Schilder, Anne

    2015-01-01

    INTRODUCTION: Cataract is one of the leading causes of low vision in the westernised world, and cataract surgery is one of the most commonly performed operations. Laser platforms for cataract surgery are now available, the anticipated advantages of which are broad and may include better visual

  4. EPHA2 polymorphisms and age-related cataract in India.

    Directory of Open Access Journals (Sweden)

    Periasamy Sundaresan

    Full Text Available We investigated whether previously reported single nucleotide polymorphisms (SNPs of EPHA2 in European studies are associated with cataract in India.We carried out a population-based genetic association study. We enumerated randomly sampled villages in two areas of north and south India to identify people aged 40 and over. Participants attended a clinical examination including lens photography and provided a blood sample for genotyping. Lens images were graded by the Lens Opacification Classification System (LOCS III. Cataract was defined as a LOCS III grade of nuclear ≥4, cortical ≥3, posterior sub-capsular (PSC ≥2, or dense opacities or aphakia/pseudophakia in either eye. We genotyped SNPs rs3754334, rs7543472 and rs11260867 on genomic DNA extracted from peripheral blood leukocytes using TaqMan assays in an ABI 7900 real-time PCR. We used logistic regression with robust standard errors to examine the association between cataract and the EPHA2 SNPs, adjusting for age, sex and location.7418 participants had data on at least one of the SNPs investigated. Genotype frequencies of controls were in Hardy-Weinberg Equilibrium (p>0.05. There was no association of rs3754334 with cataract or type of cataract. Minor allele homozygous genotypes of rs7543472 and rs11260867 compared to the major homozygote genotype were associated with cortical cataract, Odds ratio (OR = 1.8, 95% Confidence Interval (CI (1.1, 3.1 p = 0.03 and 2.9 (1.2, 7.1 p = 0.01 respectively, and with PSC cataract, OR = 1.5 (1.1, 2.2 p = 0.02 and 1.8 (0.9, 3.6 p = 0.07 respectively. There was no consistent association of SNPs with nuclear cataract or a combined variable of any type of cataract including operated cataract.Our results in the Indian population agree with previous studies of the association of EPHA2 variants with cortical cataracts. We report new findings for the association with PSC which is particularly prevalent in Indians.

  5. Ocular growth in infant aphakia. Bilateral versus unilateral congenital cataracts.

    Science.gov (United States)

    Lorenz, B; Wörle, J; Friedl, N; Hasenfratz, G

    1993-12-01

    In a prospective study the changes in the ocular axial lengths and in the overall refractions were examined in cases of unilateral and bilateral congenital cataract requiring surgery during the first year of life. Measurements were taken on 18 children with unilateral and on 20 children with bilateral congenital cataract at the time of surgery and up to eight years postoperatively. Surgery was performed via a pars plana/plicata approach, and all infants were fitted with contact lenses. In cases of unilateral cataract, the ocular axial length tended to be superior to the age-matched values already prior to surgery. After four to eight years, one third of the eyes were clearly above normal. In cases of bilateral cataract, the axial lengths were reduced at the age of surgery in the majority of cases, and particularly in eyes that required surgery during the first six months of life. The curvatures of the contact lenses tended to remain unchanged in bilateral cataract, and decreased by about 0.7 mm in unilateral cases. This also reflects the high degree of microphthalmia in bilateral cases. After four to eight years, the degree of microphthalmia had usually increased. The overall refraction decreased significantly in unilateral and bilateral cataract during the first four years of life. The mean values were higher in bilateral than in unilateral cataract at all ages. The mean decrease was 15 diopters in unilateral cataract (SD +/- 5.5 dpt), and 10 diopters in bilateral cataract (SD +/- 6 dpt). When correlating the age-matched differences in the ocular axial lengths at the time of surgery with the overall refractions after four to eight years, a good correlation was found in the unilateral cases (eight eyes), and a poor correlation in the bilateral cases (24 eyes). The data indicate that intraocular implants should not be used in bilateral cataract requiring surgery during the first year of life as long as there is no possibility to change their refraction while in

  6. Cataract secondary to electrical shock from a Taser gun.

    Science.gov (United States)

    Seth, Rajeev K; Abedi, Gelareh; Daccache, Armand J; Tsai, James C

    2007-09-01

    A 35-year-old man presented with traumatic iritis, angle-recession glaucoma, and a retinal dialysis secondary to blunt trauma from a Taser gun in the right eye and a unique electrical cataract in the left eye. Taser guns, which can also function as stun guns, can lead to electrical cataract formation. Given the increasing use of Taser guns by law enforcement and citizens, blunt mechanical and electrical sequelae of Taser gun injuries should be recognized.

  7. Trainee ophthalmologists' opinions on ways to improve cataract ...

    African Journals Online (AJOL)

    2010-02-08

    Feb 8, 2010 ... rural l'allocation aux ophtalmologistes 26 (96.3%) et bien-être package pour les patients de cataracte indigentes. 21 (77.8%). D'autres incluent local production de la cataracte consommables 22 (81.5%), franchise importation d'ophtalmique matériaux 23 (85.2%), l'emploi de l'ophtalmologiste dans les ...

  8. Marjolin's ulcer in two horses with hereditary equine regional dermal asthenia

    OpenAIRE

    Badial, Peres R. [UNESP; Rashmir-Raven, Ann M.; Cagnini, Didier Q. [UNESP; Oliveira-Filho, José P. [UNESP; Cooley, Avery J.; Cunha, Paulo Henrique J.; Kitchell, Barbara E.; Conceição, Lissandro G.; Mochal, Cathleen A.; Borges, Alexandre Secorun [UNESP

    2013-01-01

    Two Quarter Horse mares with hereditary equine regional dermal asthenia (HERDA) were diagnosed with metastatic squamous cell carcinoma (SCC) associated with chronic nonhealing wounds. The lesions were similar to the development of SCC from chronic nonhealing ulcers, known as Marjolin's ulcers in humans. The horses showed recurrent skin wounds in the saddle and paralumbar regions and were confirmed by molecular techniques as having HERDA. Both horses were maintained as research animals for pro...

  9. A hereditary disposition for bovine peripheral nerve sheath tumors in Danish Holstein cattle

    OpenAIRE

    Grossi, Anette B.; Agerholm, Jorgen S.; Christensen, Knud; Jensen, Henrik E; Leifsson, Pall S; Bendixen, Christian; Karlskov-Mortensen, Peter; Fredholm, Merete

    2014-01-01

    Background Peripheral nerve sheath tumors (PNSTs) are frequently found in Danish cattle at slaughter. Bovine PNSTs share several gross and histopathological characteristics with the PNSTs in humans with heritable neurofibromatosis syndromes. The aim of the present study was to investigate a possible hereditary disposition to PNSTs in dairy cattle by statistical analysis performed on data from 567 cattle with PNSTs. Furthermore, a preliminary genome-wide association study (GWAS) was performed ...

  10. Genetic heterogeneity of hereditary diseases of nervous system: problems and solutions

    Directory of Open Access Journals (Sweden)

    E. L. Dadali

    2012-01-01

    Full Text Available A hereditary disorders of the nervous system is one of the largest group of human monogenic disorders with high-grade genetic heterogeneity and clinical polymorphism. The main types of genetic heterogeneity and their possible causes are explained by giving typical examples of different nosological forms. The basic problems and feasible solution of medico-genetic counseling and education of high-risk families in case of genetic heterogeneity are discussed.

  11. Cataract surgery: limitations and barriers in Makurdi, Benue State.

    Science.gov (United States)

    Ojabo, C O; Alao, O

    2009-01-01

    Cataract is amenable to surgery; despite this affected patients do not always embrace or accept cataract surgical intervention. The study aims to ascertain the factors responsible for this negative attitude towards cataract surgery by affected patients. A prospective study was carried out with an interview assisted questionnaire, parameters assessed were duration of blindness before presentation, insight into the cause of cataract, awareness of the available treatment, knowledge of where to go for treatment and possible barriers to surgical treatment was administered to all consecutive patients aged 40 years and above whose cause of visual impairment and blindness is principally due to cataract for a period of one year (January 2007 December 2007). Senile cataract constituted 2.6% (180) of all the patients aged 40 years and above. Duration of blindness before presentation ranged from 6 to 84 months. Majority of the patients (65%) were aware that surgical intervention was the answer to their visual dysfunction. Although, affected patients are knowledgeable that surgical intervention was the answer to their visual dysfunction, they do not readily embrace surgical intervention for diverse reasons.

  12. Ocular manifestations and treatment of congenital cataracts associated with microcornea

    Directory of Open Access Journals (Sweden)

    Yi-Xuan Zhao

    2014-04-01

    Full Text Available AIM: To report the clinical manifestation, curative opportunity and effect of congenital cataracts with microcornea.METHODS: The clinical materials of 18 eyes of 11 patients with microcorneas who underwent surgery for congenital cataracts from January 2000 to December 2012 were retrospectively analyzed. Preoperative examination including corneal diameter(RESULTS: The morphologic types of cataract were family history of congenital cataract(4 casesamong 11 patients. Other preoperative ocular abnormalities included aniridia(6 eyes, nystagmus(18 eyesand primary vitreous artery residues(1 eye. Totally 11 patients(18 eyeshad been performed the following three different types of operation: 1extra capsular extraction of cataract(ECCEwas performed in 5 eyes; 2ECCE for the first step and posterior chamber intraocular lens(PC-IOLfor the second step was performed in 4 eyes; 3ECCE and PC-IOL was performed in 9 eyes. Visual acuity was achieved after surgery, the best-corrected visual acuity(BCVAwas 0.145±0.0958(0.01-0.20. ECCE intraoperative complication was posterior capsule rupture(1 eye. The main postoperative complications were posterior capsular opacification(10 eyesand secondary glaucoma(2 eyes.CONCLUSION: The main complication in congenital cataracts with microcornea including aniridia, choroidal defect and nystagmus. IOL implantation can significantly improve visual acuity. Patients should pay attention to prevention corneal injury, posterior capsular rupture and etc. However, adequate management of postoperative complications, especially posterior capsular opacification and glaucoma is required.

  13. Risk factors for cataract: A case control study

    Directory of Open Access Journals (Sweden)

    Ughade Suresh

    1998-01-01

    Full Text Available The present study was designed as a hospital-based, group-matched, case-control investigation into the risk factors associated with age-related cataract in central India. The study included 262 cases of age-related cataract and an equal number of controls. A total of 21 risk factors were evaluated: namely, low socioeconomic status (SES, illiteracy, marital status, history of diarrhoea, history of diabetes, glaucoma, use of cholinesterase inhibitors, steroids, spironolactone, nifedipine, analgesics, myopia early in life, renal failure, heavy smoking, heavy alcohol consumption, hypertension, low body mass index (BMI, use of cheaper cooking fuel, working in direct sunlight, family history of cataract, and occupational exposure. In univariate analysis, except marital status, low BMI, renal failure, use of steroids, spironolactone, analgesics, and occupational exposure, all 14 other risk factors were found significantly associated with age-related cataract. Unconditional multiple logistic regression analysis confirmed the significance of low SES, illiteracy, history of diarrhoea, diabetes, glaucoma, myopia, smoking, hypertension and cheap cooking fuel. The etiological role of these risk factors in the outcome of cataract is confirmed by the estimates of attributable risk proportion. The estimates of population attributable risk proportion for these factors highlight the impact of elimination of these risk factors on the reduction of cataract in this population.

  14. Prevalence and causes of visual impairment and blindness, cataract surgical coverage and outcomes of cataract surgery in Libya.

    Science.gov (United States)

    Rabiu, Muhammad Mansur; Jenf, Mansour; Fituri, Suad; Choudhury, Abdulhanan; Agbabiaka, Idris; Mousa, Ahmed

    2013-01-01

    To assess the major causes of avoidable blindness, and outcomes and barriers to cataract services in Libya. A stratified multistage cluster random sample study was conducted in the four regions of Libya. Visual acuity and lens assessment were performed on all subjects. Those with presenting visual acuity Libya needs to improve the quality of cataract surgery across all the regions. The southern region needs improvement in both quality and coverage of services.

  15. Overview of the current attempts toward the medical treatment of cataract

    Energy Technology Data Exchange (ETDEWEB)

    Kador, P.F.

    1983-04-01

    A variety of agents are currently available that claim to either prevent, delay, or reverse cataracts associated with aging (senile cataracts), radiation, or diabetes and galactosemia (sugar cataracts). Senile cataract therapy includes formulation containing inorganic salts, nutritional supplements, natural product extracts, sulfhydryl, and sulfonic acid containing compounds and miscellaneous redox and nonsteroidal anti-inflammatory compounds. Agents associated with the treatment of radiation cataracts include antioxidants and free radial scavengers. Aldose reductase inhibitors have been effective in the prevention of sugar cataracts. A summary of these agents and their potential ocular effects are presented.

  16. [Genetic testing in hereditary spastic paraplegia].

    Science.gov (United States)

    Hadzsiev, Kinga; Balikó, László; Komlósi, Katalin; Lőcsei-Fekete, Anett; Csábi, Györgyi; Bene, Judit; Kisfali, Péter; Melegh, Béla

    2015-01-18

    Hereditary spastic paraplegia is the overall term for clinically and genetically diverse disorders characterized with progressive and variable severe lower extremity spasticity. The most common causes of autosomal dominantly inherited hereditary spastic paraplegias are different mutations of the spastin gene with variable incidence in different ethnic groups, ranging between 15-40%. Mutations in the spastin gene lead to loss of spastins function, causing progressive neuronal failure, which results in axon degeneration finally. The molecular testing of spastin gene is available in the institution of the authors since January, 2014. The experience gained with the examination of the first eleven patients is described in this article. After polymerase chain reaction, Sanger sequencing was performed to examine the 17 exons of the spastin gene. Multiplex ligation-dependent probe amplification was performed to detect greater rearrangements in the spastin gene. Eight of the patients were examined in the genetic counseling clinic of the authors and after detailed phenotype assessment spastin gene testing was obtained. The other three patients were referred to the laboratory from different outpatient clinics. Out of the 11 examined patients, four different pathogenic mutations were found in 5 patients. The first Hungarian data, gained with the examination of spastin gene are presented in this article. The five patients, in whom mutations were detected, represent 45.5% of all tested patients with hereditary spastic paraplegia, which is similar to those published in the international literature. Molecular testing and subsequent detailed genotype-phenotype correlations of the Hungarian patients may serve valuable new information about the disease, which later on may influence our therapeutic possibilities and decisions.

  17. Hereditary Colorectal Cancer (CRC Program in Latvia

    Directory of Open Access Journals (Sweden)

    Irmejs Arvids

    2003-12-01

    Full Text Available Abstract Introduction The aim of the study is to evaluate the incidence and phenotype - genotype characteristics of hereditary colorectal cancer syndromes in Latvia in order to develop the basis of clinical management for patients and their relatives affected by these syndromes. Materials and methods From 02/1999-09/2002 in several hospitals in Latvia cancer family histories were collected from 865 patients with CRC. In families suspected of having a history consistent with a hereditary colorectal cancer syndrome, DNA testing for MLH1, MSH2 and MSH6 genes was performed. In addition immunohistochemical (IH examination of the normal and cancer tissue from large bowel tumors for MSH2 and MSH6 protein expression was performed prior to DNA analysis. Results From the 865 CRC cases only 3 (0.35% pedigrees fulfilled the Amsterdam II criteria of Hereditary Nonpolyposis Colorectal Cancer (HNPCC and 15 cases (1.73% were suspected of HNPCC. In 69 cases (8% with a cancer family aggregation (CFA were identified. Thus far 27 IH analyses have been performed and in 3 cancers homogenous lack of MSH2 or MSH6 protein expression was found. In one of these cases a mutation in MSH6 was identified. In 18 patients suspected of HNPCC or of matching the Amsterdam II criteria, denaturing high performance liquid chromatography (DHPLC followed by DNA sequencing of any heteroduplexes of the 35 exons comprising both MLH1 and MSH2 was performed revealing 3 mutations. For all of kindreds diagnosed definitively or with a high probability of being an HNPCC family appropriate recommendations concerning prophylactic measures, surveillance and treatment were provided in written form. Conclusions Existing pedigree/clinical data suggest that in Latvia the frequency of HNPCC is around 2% of consecutive colorectal cancer patients. It is crucial that genetic counseling is an integral part of cancer family syndrome management.

  18. Genetic heterogeneity in hereditary haemorrhagic telangiectasia.

    Science.gov (United States)

    Porteous, M E; Curtis, A; Williams, O; Marchuk, D; Bhattacharya, S S; Burn, J

    1994-01-01

    A locus causing hereditary haemorrhagic telangiectasia (HHT) has recently been mapped to 9q34 in four families and designated HHT1. In this paper, the results of a linkage study showing genetic heterogeneity in four families in whom HHT is segregating are reported. All the previously reported 9q34 linked families contain at least one affected member with a symptomatic pulmonary arteriovenous malformation. We postulate that clinical heterogeneity may also be a feature of HHT with a significantly higher predisposition to symptomatic PAVMs associated with the HHT1 linked families. PMID:7891373

  19. Hereditary xanthinuria. Evidence for enhanced hypoxanthine salvage.

    OpenAIRE

    Mateos, F A; Puig, J G; Jiménez, M L; Fox, I H

    1987-01-01

    We tested the hypothesis that there is an enhanced rate of hypoxanthine salvage in two siblings with hereditary xanthinuria. We radiolabeled the adenine nucleotide pool with [8-14C]adenine and examined purine nucleotide degradation after intravenous fructose. The cumulative excretion of radioactivity during a 5-d period was 9.7% and 9.1% of infused radioactivity in the enzyme-deficient patients and 6.0 +/- 0.7% (mean +/- SE) in four normal subjects. Fructose infusion increased urinary radioac...

  20. Asymptomatic hereditary xanthinuria: a case report.

    Science.gov (United States)

    Nagae, A; Murakami, E; Hiwada, K; Sato, Y; Kawachi, M; Kono, N

    1990-01-01

    A 22-year-old man with hereditary xanthinuria is reported. A biochemical study of the patient showed elevated serum levels of xanthine and hypoxanthine with concomitant increases in urinary excretion of xanthine and hypoxanthine. The xanthine oxidase activity in the duodenal mucosa of the patient was about 1.5% of normal value. Urinary excretion of xanthine and hypoxanthine of his parents and his eldest brother were significantly higher than the corresponding normal values, but the values were much less than those of the patient. The results suggested that the patient was homozygote, and his parents and his eldest brother were heterozygotes.