945 resultados para Slit Pores
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The aim of this work was to determine whether the filters used in microirrigation systems can remove potentially emitter-clogging particles. The particle size and volume distributions of different effluents and their filtrates were established, and the efficiency of the removal of these particles and total suspended solids by screen, disc and sand filters determined. In most of the effluents and filtrates, the number of particles with a diameter > 20 μm was minimal. By analysing the particle volume distribution it was found that particles larger than the disc and screen filter pores appeared in the filtrates. However, the sand filter was able to retain particles larger than the pore size. The filtration efficiency depended more on the type of effluent than on the filter. It was also found that the particle size distribution followed a potential law. Analysis of the β exponents showed that the filters did not significantly modify the particle size distribution of the effluents
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Apesar de efêmera, a rugosidade superficial no solo induzida por métodos de seu preparo é requerimento importante nos sistemas de manejo de caráter conservacionista. Isto se deve ao fato de que ela aumenta a retenção e a infiltração superficiais de água no solo, reduz a velocidade e o volume do escoamento superficial e aprisiona os sedimentos da erosão, diminuindo os danos causados pela erosão hídrica. Considerando tais aspectos, realizou-se esta pesquisa com o objetivo de avaliar as alterações ocorridas na rugosidade superficial do solo pelas ações do preparo e da chuva, na ausência e na presença de cobertura morta, em relação à erosão hídrica. O estudo foi realizado em campo, na EEA/UFRGS, em Eldorado do Sul (RS), em 1996 e 1997, aplicando-se chuva simulada sobre um Argissolo Vermelho distrófico típico, de textura franco-argilo-arenosa e declividade de 0,07 m m-1. Avaliaram-se os preparos de solo aração, aração e duas gradagens e sem preparo, na ausência e na presença de 60 % de cobertura por resíduo cultural, submetidos a quatro testes de chuva simulada. O primeiro teste foi constituído de uma chuva segmentada, composta de quatro porções, com durações de 20, 20, 30 e 30 min, espaçadas uma da outra de 30 a 40 min, aplicada logo após o preparo do solo. Os demais testes foram constituídos de chuvas contínuas, com duração de 90 min, aplicadas 1, 20 e 35 dias após a primeira chuva. Tais chuvas foram aplicadas com o aparelho simulador de chuva de braços rotativos, na intensidade constante de 64,0 mm h-1. A alteração na rugosidade superficial do solo causada pelo preparo foi maior do que a causada pela chuva. O maior decréscimo na rugosidade superficial do solo pela ação da chuva ocorreu já no primeiro evento, logo após o solo ter sido preparado, antes do início da enxurrada. A rugosidade superficial do solo impediu ou retardou a enxurrada nos tratamentos com solo mobilizado nos segmentos de chuva de curta duração, aplicados logo após o preparo, impedindo ou reduzindo as perdas de água e solo naquele período, independentemente da cobertura do solo. Nas chuvas contínuas subseqüentes, de longa duração, a rugosidade superficial do solo não influenciou a perda de água nos tratamentos com solo mobilizado na ausência de cobertura, sendo alta em todos eles, mas a influenciou na sua presença, diminuindo-a com o aumento da rugosidade. O tratamento sem preparo permaneceu com a perda de água elevada sempre em tais chuvas. Quanto à perda de solo, nas mesmas chuvas, o efeito da rugosidade na sua redução foi mais evidente na ausência de cobertura, tendo sido substancialmente ocultado na sua presença. A cobertura morta adicionada ao solo não preservou a elevada rugosidade superficial inicialmente criada pelos preparos no solo degradado utilizado no estudo. Mesmo assim, ao final do experimento, ainda restava mais da metade da capacidade teórica inicial de retenção de água e de sedimento nas microdepressões formadas pela rugosidade. Os dados obtidos foram consistentes com teorias e conceitos usados em estudos de mecânica de erosão hídrica do solo.
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Fingerprint practitioners rely on level 3 features to make decisions in relation to the source of an unknown friction ridge skin impression. This research proposes to assess the strength of evidence associated with pores when shown in (dis)agreement between a mark and a reference print. Based upon an algorithm designed to automatically detect pores, a metric is defined in order to compare different impressions. From this metric, the weight of the findings is quantified using a likelihood ratio. The results obtained on four configurations and 54 donors show the significant contribution of the pore features and translate into statistical terms what latent fingerprint examiners have developed holistically through experience. The system provides LRs that are indicative of the true state under both the prosecution and the defense propositions. Not only such a system brings transparency regarding the weight to assign to such features, but also forces a discussion in relation to the risks of such a model to mislead.
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Soils play a fundamental role in the production of human foods. The Oxisols in the state of Paraná are among the richest and most productive soils in Brazil, but degradation and low porosity are frequently documented, due to intensive farming involving various management strategies and the application of high-tech solutions. This study aims to investigate changes in the porosity of two Red Oxisols (Latossolos Vermelhos), denoted LVef (eutroferric) and LVdf (dystroferric) under conventional and no-tillage soil management, with a succession of annual crops of soybean, maize and wheat over a continuous period of more than 20 years. After describing the soil profiles under native forest, no-tillage management and conventional tillage using the crop profile method, deformed and non-deformed soil samples were collected from the volumes most compacted by human intervention and the physical, chemical and mineralogical properties analyzed. The various porosity classes (total pore volume, inter-aggregate porosity between channels and biological cavities) and intra-aggregate porosity (determined in 10 cm³ saturated clods subjected to a pressure of -10 kPa to obtain a pore volume with a radius (r eq), > 15 μm and < 15 μm). The results showed that the effects of no-tillage farming on porosity are more pronounced in both soil types. Porosity of the LVdf was higher than pf the LVef soil, whatever the management type. In the LVdf soil, only pores with a radius of > 15 μm were affected by farming whereas in the LVef soil, pores with a radius of < 15 μm were affected as well.
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Irrigation with treated domestic sewage wastewater (TSE) is an agricultural practice to reduce water requirements of agroecossystems and the nutrient load impact on freshwaters, but adverse effects on soil chemical (salinization, sodification, etc.) and soil physical properties (alteration in soil porosity and hydraulic conductivity, etc.) have been reported. This study aimed to define some relationships among these changes in an Oxisol using multivariate analysis. Corn (Zea mays L.) and sunflower (Helianthus annuus L.) were grown for two years, irrigated with TSE. The following soil properties were determined: Ca2+; Mg2+; Na+; K+ and H + Al contents, cationic exchangeable capacity (CEC), sum of bases (SB), base saturation (V), texture (sand, silt and clay), macro-, micro-, and cryptoporosity (V MA, V MI and V CRI), water content at soil saturation (θS) and at field capacity (θFC), residual water content (θR), soil bulk density (d s), water dispersed clay (WDC) and saturated hydraulic conductivity (K SAT). Factor analysis revealed the following six principal factors: Fine Porosity (composed of Na+; K+; WDC, θR, θRFC, and V CRI); Large Porosity (θS, d s, V MA, Vs); Soil CEC (Ca2+; Mg2+; CEC, SB, V); Soil Acidity (H + Al); and Soil Texture (factors 5 and 6). A dual pore structure appears clearly to the factors 1 and 2, with an apparent relationship between fine porosity and the monovalent cations Na+ and K+. The irrigation (with potable sodic tap water or sewage wastewater) only had a significant effect on Fine Porosity and Large Porosity factors, while factors 3 and 4 (Soil CEC and Soil Acidity) were correlated with soil depth. The main conclusion was a shift in pore distribution (large to fine pores) during irrigation with TSE, which induces an increase of water storage and reduces the capacity of drainage of salts.
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We investigate adsorption of helium in nanoscopic polygonal pores at zero temperature using a finite-range density functional theory. The adsorption potential is computed by means of a technique denoted as the elementary source method. We analyze a rhombic pore with Cs walls, where we show the existence of multiple interfacial configurations at some linear densities, which correspond to metastable states. Shape transitions and hysterectic loops appear in patterns which are richer and more complex than in a cylindrical tube with the same transverse area.
Resposta do abacaxizeiro 'Vitória' a doses de nitrogênio em solos de tabuleiros costeiros da Paraíba
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Apesar de importantes, são bastante escassas as informações sobre adubação e nutrição mineral de cultivares de abacaxi resistentes à fusariose. O objetivo deste trabalho foi avaliar a resposta do abacaxizeiro 'Vitória', em termos de nutrição mineral, produção e qualidade, à aplicação de doses crescentes de N, em Espodossolo Humilúvico da região de Tabuleiros Costeiros, Estado da Paraíba. O experimento foi conduzido em delineamento experimental de blocos casualizados, com cinco tratamentos, correspondente às doses de 100, 200, 300, 500 e 600 kg ha-1 de N (ureia aos 60, 180 e 270 dias após o plantio), e três repetições. Avaliaram-se o comprimento, a matéria fresca da folha 'D' e os teores de N, P e K nas porções clorofilada e aclorofilada aos 300 e 420 dap; e peso médio, produtividade, atributos físicos (peso, comprimento e diâmetro mediano de infrutescências; peso e comprimento de coroa) e químicos (pH, sólidos solúveis - SS, acidez titulável - AT e relação SS/AT) de infrutescências na colheita. A elevação da dose de N aumentou linearmente os valores de comprimento e matéria fresca da folha 'D'. O aumento das doses promoveu também elevação dos teores de N e diminuição dos de P e K da porção clorofilada aos 300 dap, sem alterar, entretanto, os teores desses nutrientes aos 420 dap. Na porção aclorofilada, a elevação das doses de N aumentou os teores de K aos 320 dap, mas diminuiu-os aos 420 dap. Os valores de peso de infrutescências e de produtividade aumentaram com a elevação das doses de N, estimando-se valores máximos de 1,0 kg e 37,9 t ha-1, com doses de 409,0 e 439,0 kg ha-1 de N, respectivamente. As doses de N não alteraram os atributos de qualidade das infrutescências, as quais se mostraram compatíveis com as características descritas para a cultivar.
Influence of age on retinochoroidal healing processes after argon photocoagulation in C57bl/6j mice.
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PURPOSE: To analyze the influence of age on retinochoroidal wound healing processes and on glial growth factor and cytokine mRNA expression profiles observed after argon laser photocoagulation. METHODS: A cellular and morphometric study was performed that used 44 C57Bl/6J mice: 4-week-old mice (group I, n=8), 6-week-old mice (group II, n=8), 10-12-week-old mice (group III, n=14), and 1-year-old mice (group IV, n=14). All mice in these groups underwent a standard argon laser photocoagulation (50 microm, 400 mW, 0.05 s). Two separated lesions were created in each retina using a slit lamp delivery system. At 1, 3, 7, 14, 60 days, and 4 months after photocoagulation, mice from each of the four groups were sacrificed by carbon dioxide inhalation. Groups III and IV were also studied at 6, 7, and 8 months after photocoagulation. At each time point the enucleated eyes were either mounted in Tissue Tek (OCT), snap frozen and processed for immunohistochemistry or either flat mounted (left eyes of groups III and IV). To determine, by RT-PCR, the time course of glial fibrillary acidic protein (GFAP), vascular endothelial growth factor (VEGF), and monocyte chemotactic protein-1 (MCP-1) gene expression, we delivered ten laser burns (50 microm, 400 mW, 0.05 s) to each retina in 10-12-week-old mice (group III', n=10) and 1-year-old mice (group IV', n=10). Animals from Groups III' and IV' had the same age than those from Groups III and IV, but they received ten laser impacts in each eye and served for the molecular analysis. Mice from Groups III and IV received only two laser impacts per eye and served for the cellular and morphologic study. Retinal and choroidal tissues from these treated mice were collected at 16 h, and 1, 2, 3, and 7 days after photocoagulation. Two mice of each group did not receive photocoagulation and were used as controls. RESULTS: In the cellular and morphologic study, the resultant retinal pigment epithelium interruption expanse was significantly different between the four groups. It was more concise and smaller in the oldest group IV (112.1 microm+/-11.4 versus 219.1 microm+/-12.2 in group III) p<0.0001 between groups III and IV. By contrast, while choroidal neovascularization (CNV) was mild and not readily identifiable in group I, at all time points studied, CNV was more prominent in the (1-year-old mice) Group IV than in the other groups. For instance, up to 14 days after photocoagulation, CNV reaction was statistically larger in group IV than in group III ((p=0.0049 between groups III and IV on slide sections and p<0.0001 between the same groups on flat mounts). Moreover, four months after photocoagulation, the CNV area (on slide sections) was 1,282 microm(2)+/-90 for group III and 2,999 microm(2)+/-115 for group IV (p<0.0001 between groups III and IV). Accordingly, GFAP, VEGF, and MCP-1 mRNA expression profiles, determined by RT-PCR at 16 h, 1, 2, 3, and 7 days postphotocoagulation, were modified with aging. In 1-year-old mice (group IV), GFAP mRNA expression was already significantly higher than in the younger (10-12 week) group III before photocoagulation. After laser burns, GFAP mRNA expression peaked at 16-24 h and on day 7, decreasing thereafter. VEGF mRNA expression was markedly increased after photocoagulation in old mice eyes, reaching 2.7 times its basal level at day 3, while it was only slightly increased in young mice (1.3 times its level in untreated young mice 3 days postphotocoagulation). At all time points after photocoagulation, MCP-1 mRNA expression was elevated in old mice, reaching high levels of expression at 16 h and day 3 respectively. CONCLUSIONS: Our results were based on the study of four different age groups and included not only data from morphological observations but also from a molecular analysis of the various alterations of cytokine signaling and expression. One-year-old mice demonstrated more extensive CNV formation and a slower pace of regression after laser photocoagulation than younger mice. These were accompanied by differences in growth factors and cytokine expression profiles indicate that aging is a factor that aggravates CNV. The above results may provide some insight into possible therapeutic strategies in the future.
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O Intervalo Hídrico Ótimo (IHO) integra atributos físicos do solo relacionados ao crescimento das culturas e corresponde ao intervalo entre os limites superior e inferior do conteúdo de água no solo, no qual são mínimas as limitações para o crescimento radicular. Em áreas agrícolas, o manejo do solo pode alterar sua estrutura, de forma que, principalmente em razão da compactação, a densidade do solo (Ds) poderá ficar fora desses limites em que as condições são ideais para o crescimento das plantas. O objetivo deste trabalho foi utilizar o IHO para avaliação da qualidade física do solo e identificação de áreas com restrição para crescimento de plantas, visando ao manejo localizado. O estudo foi realizado em um Latossolo Vermelho argiloso sob sistema semeadura direta (SSD) com cultivos sucessivos de grãos por 25 anos em Campinas, SP. Foram coletadas amostras volumétricas de solo, nas camadas de 0,00-0,10, 0,10-0,20 e 0,20-0,30 m, destinadas à obtenção dos seguintes atributos: Ds, curva de resistência à penetração, curva de retenção de água e porosidade do solo para determinação do IHO e da densidade crítica do solo (Dsc). Dados de variabilidade e dependência espacial da Ds foram analisados por semivariogramas para elaboração de mapas desse atributo. O IHO diminuiu em profundidade e foi limitado na parte superior pela umidade na capacidade de campo e na parte inferior pela resistência à penetração, nas três profundidades avaliadas. A Dsc foi de 1,42 Mg m-3 para a camada de 0,00-0,10 m e de 1,39 e 1,41 Mg m-3, respectivamente, para as camadas de 0,10-0,20 e 0,20-0,30 m. Verificou-se que a Ds foi maior que a Dsc nas camadas de 0,00-0,10 e 0,10-0,20 m, em porções localizadas no terço inferior do terreno, indicando condição crítica para o crescimento das plantas. A utilização do IHO, associado a mapas de variabilidade espacial da Ds, para determinação de pontos em que ela é maior que a Dsc, auxilia a tomada de decisão para intervenção ou modificação do manejo do solo, enquanto que o critério de escolha do valor crítico da resistência à penetração pode contribuir para a interpretação dos resultados de campo.
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Purpose: To compare the performance Glaucoma Quality of Life-15 (GQL-15) Questionnaire, intraocular pressure measurement (IOP Goldmann tonometry) and a measure of visual field loss using Moorfields Motion Displacement Test (MDT) in detecting glaucomatous eyes from a self referred population. Methods: The GQL-15 has been suggested to correlate with visual disability and psychophysical measures of visual function in glaucoma patients. The Moorfields MDT is a multi location perimetry test with 32 white line stimuli presented on a grey background on a standard laptop computer. Each stimulus is displaced between computer frames to give the illusion of "apparent motion". Participants (N=312, 90% older than 45 years; 20.5% family history of glaucoma) self referred to an advertised World Glaucoma Day (March 2009) Jules Gonin Eye Hospital, Lausanne Switzerland. Participants underwent a clinical exam (IOP, slit lamp, angle and disc examination by a general ophthalmologist), 90% completed a GQL-15 questionnaire and over 50% completed a MDT test in both eyes. Those who were classified as abnormal on one or more of the following (IOP >21 mmHg/ GQL-15 score >20/ MDT score >2/ clinical exam) underwent a follow up clinical examination by a glaucoma specialist including imaging and threshold perimetry. After the second examination subjects were classified as "healthy"(H), "glaucoma suspect" (GS) (ocular hypertension and/or suspicious disc, angle closure with SD) or "glaucomatous" (G). Results: One hundred and ten subjects completed all 4 initial examinations; of these 69 were referred to complete the 2nd examination and were classified as; 8 G, 24 GS, and 37 H. MDT detected 7/8 G, and 7/24 GS, with false referral rate of 3.8%. IOP detected 2/8 G and 8/24 GS, with false referral rate of 8.9%. GQL-15 detected 4/8 G, 16/24 GS with a false referral rate of 42%. Conclusions: In this sample of participants attending a self referral glaucoma detection event, the MDT performed significantly better than the GQL-15 and IOP in discriminating glaucomatous patients from healthy subjects. Further studies are required to assess the potential of the MDT as a glaucoma screening tool.
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Studies testing the High Energy Moisture Characteristic (HEMC) technique in tropical soils are still incipient. By this method, the effects of different management systems can be evaluated. This study investigated the aggregation state of an Oxisol under coffee with Brachiaria between crop rows and surface-applied gypsum rates using HEMC. Soil in an experimental area in the Upper São Francisco region, Minas Gerais, was studied at depths of 0.05 and 0.20 m in coffee rows. The treatments consisted of 0, 7, and 28 Mg ha-1 of agricultural gypsum rates distributed on the soil surface of the coffee rows, between which Brachiaria was grown and periodically cut, and compared with a treatment without Brachiaria between coffee rows and no gypsum application. To determine the aggregation state using the HEMC method, soil aggregates were placed in a Büchner funnel (500 mL) and wetted using a peristaltic pump with a volumetric syringe. The wetting was applied increasingly at two pre-set speeds: slow (2 mm h-1) and fast (100 mm h-1). Once saturated, the aggregates were exposed to a gradually increasing tension by the displacement of a water column (varying from 0 to 30 cm) to obtain the moisture retention curve [M = f (Ψ) ], underlying the calculation of the stability parameters: modal suction, volume of drainable pores (VDP), stability index (slow and fast), VDP ratio, and stability ratio. The HEMC method conferred sensitivity in quantifying the aggregate stability parameters, and independent of whether gypsum was used, the soil managed with Brachiaria between the coffee rows, with regular cuts discharged in the crop row direction, exhibited a decreased susceptibility to disaggregation.
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In evaluation of soil quality for agricultural use, soil structure is one of the most important properties, which is influenced not only by climate, biological activity, and management practices but also by mechanical and physico-chemical forces acting in the soil. The purpose of this study was to evaluate the influence of conventional agricultural management on the structure and microstructure of a Latossolo Vermelho distroférrico típico (Rhodic Hapludox) in an experimental area planted to maize. Soil morphology was described using the crop profile method by identifying the distinct structural volumes called Morphologically Homogeneous Units (MHUs). For comparison, we also described a profile in an adjacent area without agricultural use and under natural regrowth referred to as Memory. We took undisturbed samples from the main MHUs so as to form thin sections and blocks of soil for micromorphological and micromorphometrical analyses. Results from the application of the crop profile method showed the occurrence of the following structural types: loose (L), fragmented (F) and continuous (C) in both profiles analyzed. In the Memory soil profile, the fragmented structures were classified as Fptμ∆+tf and Fmt∆μ, whose micromorphology shows an enaulic-porphyric (porous) relative distribution with a great deal of biological activity as indicated by the presence of vughs and channels. Lower down, from 0.20 to 0.35 m, there was a continuous soil volume (sub-type C∆μ), with a subangular block microstructure and an enaulic-porphyric relative distribution, though in this case more compact and with aggregate coalescence and less biological activity. The micromorphometrical study of the soil of the Memory Plot showed the predominance of complex pores in NAM (15.03 %), Fmt∆μ (11.72 %), and Fptμ∆+tf (7.73 %), and rounded pores in C∆μ (8.21 %). In the soil under conventional agricultural management, we observed fragmented structures similar to the Memory Plot from 0.02 to 0.20 m, followed by a volume with a compact continuous structure (C∆μ), without visible porosity and with few roots. In the MHUs under conventional management, reduction in the packing pores (40 %) was observed, mainly in the continuous units (C). The microstructure had well-defined blocks, with the occurrence of planar pores and less evidence of biological activity. In conclusion, the morphological and micromorphological analyses of the soil profiles studied offered complementary information regarding soil structural quality, especially concerning the changes in pore types as result of mechanical stress undergone by the soil.
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PURPOSE: To investigate the ability of fibroblast growth factor (FGF) 2-saporin to prevent lens regrowth in the rabbit. METHODS: Chemically conjugated and genetically fused FGF2-saporin (made in Escherichia coli) were used. Extracapsular extraction of the lens was performed on the rabbit, and the cytotoxin either was injected directly into the capsule bag or was administered by FGF2-saporin-coated, heparin surface-modified (HSM) polymethylmethacrylate intraocular lenses. The potential of the conjugate was checked by slit lamp evaluation of capsular opacification and by measuring crystallin synthesis. Toxin diffusion and sites of toxin binding were assessed by immunohistochemistry. Possible toxicity was determined by histologic analysis of ocular tissues. RESULTS: FGF2-saporin effectively inhibited lens regrowth when it was injected directly into the capsular bag. However, high concentration of the toxin induced transient corneal edema and loss of pigment in the iris. Intraocular lenses coated with FGF2-saporin reduced lens regrowth and crystallin synthesis without any detectable clinical side effect. After implantation, FGF2-saporin was shown to have bound to the capsules and, to a lesser extent, to the iris; no histologic damage was found on ocular tissues as a result of implantation of drug-loaded HSM intraocular lenses. CONCLUSIONS: Chemically conjugated (FGF2-SAP) and genetically fused FGF2-saporin (rFGF2-SAP) bound to HSM intraocular lenses can prevent lens regrowth in the rabbit.
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Analysis of the soil pore system represents an important way of characterizing soil structure. Properties such as the shape and number of pores can be determined through soil pore evaluations. This study presents a three-dimensional (3D) characterization of the shape and number of pores of a sub-tropical soil. To do so, a second generation X-ray microtomograph equipped with a plain type detector was employed. A voltage of 120 kV and current of 80 mA was applied to the X-ray tube. The soil samples analyzed were collected at three different depths (0-10, 10-20, and 20-30 cm). The results obtained allowed qualitative (images) and quantitative (3D) analyses of the soil structure, revealing the potential of the microtomographic technique, as well as the study of differences in soil macroporosity at different depths. Macroporosity was 5.14 % in the 0-10 cm layer, 5.10 % in the 10-20 cm layer, and 6.64 % in the 20-30 cm layer. The macroporosity of unclassified pores (UN) was 0.30 % (0-10 and 10-20 cm) and 0.40 % (20-30 cm), while equant pores (EQ) had values of 0.01 % at the three depths under analysis.
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Purpose: To report the findings of the clinical and molecular evaluation in a Greek family with fleck corneal dystrophy (CFD).Methods: A 58-year-old woman was seen on routine ophthalmic examination and diagnosed as having CFD. All available family members were examined to evaluate the clinical findings and inheritance of the disease. Twenty members of the family in five generations underwent slit-lamp examination. Eleven were females and nine males, aged from two years to 85 years old. Blood samples were available from four patients with CFD and seven unaffected relatives, and the DNAs were subjected to molecular screening of the phosphoinositide kinase, five finger-containing (PIKFYVE) gene by direct sequencing or denaturing high performance liquid chromatography (DHPLC).Results: The clinical evaluation revealed six family members (five females and one male) with CFD. In two CFD patients early cataract formation was noticed. All patients affected with the corneal dystrophy were asymptomatic. The molecular analyses demonstrated the existence of a novel c. 3060-3063delCCTT (p.P968Vfs23) mutation in PIKFYVE in all CFD patients tested but in none of the six unaffected family members. No molecular screening was performed in the seventh unaffected member as the causative mutation was clearly transmitted from his affected wife to his affected son.Conclusions: We report on the clinical and molecular findings of a five generation Greek family with CFD and we conclude that the novel c. 3060-3063delCCTT (p. P968Vfs23) mutation in PIKFYVE, which segregated with the disease, was the causative mutation in this family.