Repeated blood pressure measurements in a sample of Swedish twins: heritabilities and associations with polymorphisms in the renin-angiotensin-aldosterone system Iliadou, Anastasia, Lichtenstein, Paul, Morgenstern, Ralf, Forsberg, Lena, Svensson, Richard, de Faire, Ulf, Martin, Nicholas, Pedersen, Nancy

Background Twin and family studies have shown that genetic effects explain a relatively high amount of the phenotypic variation in blood pressure. However, many studies have not been able to replicate findings of association between specific polymorphisms and diastolic and systolic blood pressure. Methods In a structural equation-modelling framework the authors investigated longitudinal changes in repeated measures of blood pressures in a sample of 298 like-sexed twin pairs from the population-based Swedish Twin Registry. Also examined was the association between blood pressure and polymorphisms in the angiotensin-I converting enzyme and the angiotensin 11 receptor type 1 with the 'Fulker' test Both linkage and association were tested simultaneously revealing whether the polymorphism is a Quantitative Trait Locus (QTL) or in linkage disequilibrium with the QTL. Results Genetic influences explained up to 46% of the phenotypic variance in diastolic and 63% of the phenotypic variance in systolic blood pressure. Genetic influences were stable over time and contributed up to 78% of the phenotypic correlation in both diastolic and systolic blood pressure. Non-shared environmental effects were characterised by time specific influences and little transmission from one time point to the next. There was no significant linkage and association between the polymorphisms and blood pressure. Conclusions There is a considerable genetic stability in both diastolic and systolic blood pressure for a 6-year period of time in adult life. Non-shared environmental influences have a small long-term effect Although associations with the polymorphisms could not be replicated, results should be interpreted with caution due to power considerations. (C) 2002 Lippincott Williams Wilkins.

Repeated three-dimensional magnetic resonance imaging of atherosclerosis development in innominate arteries of low-density lipoprotein receptor-knockout mice

Background-In vivo methods to evaluate the size and composition of atherosclerotic lesions in animal models of atherosclerosis would assist in the testing of antiatherosclerotic drugs. We have developed an MRI method of detecting atherosclerotic plaque in the major vessels at the base of the heart in low-density lipoprotein (LDL) receptor-knockout (LDLR-/-) mice on a high-fat diet. Methods and Results-Three-dimensional fast spin-echo magnetic resonance images were acquired at 7 T by use of cardiac and respiratory triggering, with approximate to140-mum isotropic resolution, over 30 minutes. Comparison of normal and fat-suppressed images from female LDLR-/- mice I week before and 8 and 12 weeks after the transfer to a high-fat diet allowed visualization and quantification of plaque development in the innominate artery in vivo. Plaque mean cross-sectional area was significantly greater at week 12 in the LDLR-/- mice (0.14+/-0.086 mm(2) [mean+/-SD]) than in wild-type control mice on a normal diet (0.017+/-0.031 mm(2), p

Ocular melanoma is not associated with CDKN2A or MC1R variants - a population-based study

Germline variants in the melanocortin 1 receptor gene (MC1R) and the p16 gene (CDKN2A) are associated with an increased risk of cutaneous melanoma. The frequency of these germline variants was examined in a population-based, incident series of 62 ocular melanoma cases and ethnicity-matched population controls. In both cases and controls, 59% of individuals carried at least one MC1R variant and there were no significant differences in the frequency of any of the five most common variants of MC1R. We also found no significant differences between cases and controls in the frequency of any of the four most common variants of CDKN2A, and no melanoma case carried a deleterious germline CDKN2A mutation. Our findings argue against an important predisposing effect of the MC1R and CDKN2A genes for ocular melanoma.

Chromosomal gains and losses in ocular melanoma detected by comparative genomic hybridization in an Australian population-based study

To define the location of potential oncogenes and tumor suppressor genes in ocular melanoma we carried out comparative genomic hybridization (CGH) analysis on a population-based series of 25 formalin-fixed, paraffin-embedded primary tumors comprising 17 choroidal, 2 ciliary body, 4 iris, and 2 conjunctival melanomas. Twelve (48%) of the 25 melanomas showed no chromosomal changes and 13 (52%) had at least one chromosomal gain or loss. The mean number of CGH changes in all tumors was 3.3, with similar mean numbers of chromosomal gains (1.5) and losses (1.8). The highest number of chromosomal changes (i.e., nine) occurred in a conjunctival melanoma and included four changes not observed in tumors at any other ocular site (gains in 22q and 11p and losses in 6p and 17p). The most frequent gains in all primary ocular melanomas were on chromosome arm 8q (69%), 6p (31%) and 8p (23%) and the most frequent losses were on 6q (38%), 10q (23%), and 16q (23%). The most common pairing was gain in 8p and gain in 8q, implying a whole chromosome copy number increase; gains in 8p occurred only in conjunction with gains in 8q. The smallest regions of copy number alteration were mapped to gain of 8q21 and loss of 6q21, 10q21, and 16q22. Sublocalization of these chromosomal changes to single-band resolution should accelerate the identification of genes involved in the genesis of ocular melanoma.

Visual Biology of Hawaiian Coral Reef Fishes. I. Ocular Transmission and Visual Pigments

The visual biology of Hawaiian reef fishes was explored by examining their eyes for spectral sensitivity of their visual pigments and for transmission of light through the ocular media to the retina. The spectral absorption curves for the visual pigments of 38 species of Hawaiian fish were recorded using microspectrophotometry. The peak absorption wavelength (lambda(max)) of the rods varied from 477-502 nm and the lambda(max) of individual species conformed closely to values for the same species previously reported using a whole retina extraction procedure. The visual pigments of single cone photoreceptors were categorized, dependent on their lambda(max)-values, as ultraviolet (347-376 nm), violet (398-431 nm) or blue (439-498 nm) sensitive cones. Eight species possessed ultraviolet-sensitive cones and 14 species violet-sensitive cones. Thus, 47% of the species examined displayed photosensitivity to the short-wavelength region of the spectrum. Both identical and nonidentical paired and double cones were found with blue sensitivity or green absorption peaks (> 500 nm). Spectrophotometry of the lens, cornea, and humors for 195 species from 49 families found that the spectral composition of the light transmitted to the retina was most often limited by the lens (73% of species examined). Except for two unusual species with humor-limited eyes, Acanthocybium solandri (Scombridae) and the priacanthid fish, Heteropriacanthus cruentatus, the remainder had corneal-limited eyes. The wavelength at which 50% of the light was blocked (T50) was classified according to a system modified from Douglas and McGuigan (1989) as Type I, T50 < = 355 nm, (32 species); Type IIa, 355 < T50 < = 380 nm (30 species); Type IIb, 380 < T50 405 nm (84 species). Possession of UV-transmitting ocular media follows both taxonomic and functional lines and, if the ecology of the species is considered, is correlated with the short-wavelength visual pigments found in the species. Three types of short-wavelength vision in fishes are hypothesized: UV-sensitive, UV-specialized, and violet-specialized. UV-sensitive eyes lack UV blockers (Type I and IIa) and can sense UV light with the secondary absorption peak or beta peak of their longer wavelength visual pigments but do not possess specialized UV receptor cells and, therefore, probably lack UV hue discrimination. UV-specialized eyes allow transmission of UV light to the retina (Type I and IIa) and also possess UV-sensitive cone receptors with peak absorption between 300 and 400 nm. Given the appropriate perceptual mechanisms, these species could possess true UV-color vision and hue discrimination. Violet-specialized eyes extend into Type IIb eyes and possess violet-sensitive cone cells. UV-sensitive eyes are found throughout the fishes from at least two species of sharks to modern bony fishes. Eyes with specialized short-wavelength sensitivity are common in tropical reef fishes and must be taken into consideration when performing research involving the visual perception systems of these fishes. Because most glass and plastics are UV-opaque, great care must be taken to ensure that aquarium dividers, specimen holding containers, etc., are UV-transparent or at least to report the types of materials in use.

Physiological responses to repeated bouts of high-intensity ultraendurance cycling - a field study case report

The present study aimed to 1) examine the relationship between laboratory-based measures and high-intensity ultraendurance (HIU) performance during an intermittent 24-h relay ultraendurance mountain bike race (similar to20 min cycling, similar to60min recovery), and 2) examine physiological and performance based changes throughout the HIU event. Prior to the HIU event, four highly-trained male cyclists (age = 24.0 +/- 2.1 yr; mass = 75.0 +/- 2.7 kg; (V)over dot O-2peak = 70 +/- 3 ml.kg(-1).min(-1)) performed 1) a progressive exercise test to determine peak Volume of oxygen uptake ((V)over dot O-2peak), peak power output (PPO), and ventilatory threshold (T-vent), 2) time-to-fatigue tests at 100% (TF100) and 150% of PPO (TF150), and 3) a laboratory simulated 40-km time trial (TT40). Blood lactate (Lac(-)), haematocrit and haemoglobin were measured at 6-h intervals throughout the HIU event, while heart rate (HR) was recorded continuously. Intermittent HIU performance, performance HR, recovery HR, and Lac declined (P < 0.05), while plasma volume expanded (P < 0.05) during the HIU event. TF100 was related to the decline in lap time (r = -0.96; P < 0.05), and a trend (P = 0.081) was found between TF150 and average intermittent HIU speed (r = 0.92). However, other measures (V)over dot O-2peak, PPO, T-vent, and TT40) were not related to HIU performance. Measures of high-intensity endurance performance (TF100, TF150) were better predictors of intermittent HIU performance than traditional laboratory-based measures of aerobic capacity.

Ocular scanning and perceptual size distortion in hemispatial neglect: effects of prism adaptation and sequential stimulus presentation

When asked to compare two lateralized shapes for horizontal size, neglect patients often indicate the left stimulus to be smaller. Gainotti and Tiacci (1971) hypothesized that this phenomenon might be related to a rightward bias in the patients' gaze. This study aimed to assess the relation between this size underestimation and oculomotor asymmetries. Eye movements were recorded while three neglect patients judged the horizontal extent of two rectangles. Two experimental manipulations were performed to increase the likelihood of symmetrical scanning of the stimulus display. The first manipulation entailed a sequential, rather than simultaneous presentation of the two rectangles. The second required adaptation to rightward displacing prisms, which is known to reduce many manifestations of neglect. All patients consistently underestimated the left rectangle, but the pattern of verbal responses and eye movements suggested different underlying causes. These include a distortion of space perception without ocular asymmetry, a failure to view the full leftward extent of the left stimulus, and a high-level response bias. Sequential presentation of the rectangles and prism adaptation reduced ocular asymmetries without affecting size underestimation. Overall, the results suggest that leftward size underestimation in neglect can arise for a number of different reasons. Incomplete leftward scanning may perhaps be sufficient to induce perceptual size distortion, but it is not a necessary prerequisite.

Avaliação da reatividade de anticorpos anti-Toxoplasma gondii pela técnica de citometria de fluxo como indicadores de lesão ocular em soros de recém-nascidos com toxoplasmose congênita

A retinocoroidite é a manifestação mais comum causada pela infecção congênita por Toxoplasma gondii. Devido a gravidade das lesões oculares que podem até levar à perda completa da visão, a detecção precoce da toxoplasmose congênita e da lesão ocular são essenciais para o tratamento. Este trabalho possuiu o objetivo de avaliar a aplicabilidade da pesquisa de anticorpos IgG e das subclasses IgG1, IgG2, IgG3 e IgG4 anti-T. gondii por citometria de fluxo como marcador laboratorial das diferentes formas de lesões retinocoroidais na toxoplasmose congênita. Foram analisadas 88 amostras de soro de recém-nascidos com toxoplasmose congênita, sendo 25 sem lesão ocular (SL), 10 com lesão ocular ativa (RA), 26 com lesão ocular ativa e cicatricial (RAC) e 27 com lesão ocular cicatricial (RC). Foram também utilizadas 19 amostras de soro de recém-nascidos não infectados que apresentaram IgG positivo após o nascimento (NI). Essas amostras foram obtidas a partir de soros de recémnascidos participantes de um programa de triagem neonatal realizado em Minas Gerais realizado nos anos de 2006 e 2007. Os resultados demonstraram que os recém-nascidos com toxoplasmose congênita apresentam maior reatividade de anticorpos IgG total e subclasses IgG1, IgG2 e IgG3 do que indivíduos não infectados. No grupo não infectado, o único anticorpo com mais de 50% de indivíduos com alta reatividade de anticorpos foi IgG4. Ao comparar os grupos de indivíduos com toxoplasmose congênita, foi observado que o grupo RAC, seguido de RC, apresentou maior reatividade principalmente para os anticorpos IgG1 e IgG3 comparado aos recém-nascidos dos grupos RA e SL, enquanto que pacientes do grupo RA apresentaram maior reatividade para IgG4 do que indivíduos dos outros grupos. IgG1 foi a única subclasse capaz de diferenciar os grupos NI, SL dos grupos RAC e RC. Também foi avaliado o índice de avidez de IgG total, que não permitiu estabelecer nenhum critério de diferenciação das formas de lesão ocular causadas pelo T. gondii. Portanto, a citometria de fluxo demonstrou que pode ser um método laboratorial complementar para ser utilizado como indicador das diferentes lesões oculares causadas pela toxoplasmose congênita.

Evaluation of polymethylmethacrylate as ocular implant in rabbits subjected to evisceration

Spheres of different types of material are used for the replacement of lost volume after removal of the eye bulb or its content to prevent contraction of the orbital cavity. The aim of this study was to evaluate the scope of polymethylmethacrylate (PMMA) used as intraocular implant in eviscerated rabbit eye. Twelve New Zealand rabbits underwent unilateral evisceration of the left eye, with subsequent implantation of PMMA sphere 12 mm in diameter. Clinical evaluation was performed daily during the first 15 days after surgery and every 15 days until the end of the study period (180 days). For the histopathological analysis, three animals per trial underwent enucleation at 15, 45, 90 and 180 days after evisceration. There was no wound dehiscence, signs of infection or implant extrusion in any animal throughout the study period. Histological examination revealed the formation of fibrovascular tissue around the implants. The PMMA behaved as inert and non-integrable.

Promoção da saúde ocular e prevenção precoce de problemas visuais nos serviços de saúde pública

OBJETIVO: Verificar o conhecimento, atitudes e práticas em relação às ações básicas de saúde ocular de pediatras e enfermeiros de serviços de saúde pública. MÉTODO: A população estudada constituiu-se de pediatras e enfermeiros que trabalhavam nos centros de saúde do Município de Campinas, SP - Brasil, e atuavam com crianças de 0 a 12 anos de idade. As informações sobre conhecimento, atitudes e práticas foram colhidas através de questionários (para os pediatras) e de formulários (para os enfermeiros). RESULTADOS: A execução das ações básicas de saúde ocular em crianças não fazia parte da rotina de atividades dos pediatras e enfermeiros, provavelmente devido ao pouco conhecimento dessas ações. Dos 61 pediatras, 82,0% (50) e 91,0% dos 22 enfermeiros não souberam referir a idade em que se completa o desenvolvimento visual. Em relação à ambliopia, 86,8% (53) dos pediatras e 100,0% dos enfermeiros não souberam defini-la. CONCLUSÕES: A promoção da saúde ocular e a prevenção precoce de problemas visuais em crianças não representava uma prática constante desses profissionais vinculados aos serviços de saúde pública. Recomenda-se que se realize treinamentos e educação continuada na área de saúde ocular durante e após a formação universitária desses profissionais.

Crenças sobre saúde ocular entre professores do sistema público de ensino do Município de São Paulo, SP - Brasil

OBJETIVO: Verificar crenças em saúde ocular relacionadas ao uso de óculos, esforço visual e danos à visão por leitura em diferentes situações, para subsidiar programas de treinamento de professores. MÉTODOS: Levantamento de dados entre professores de primeira série do ensino fundamental, das escolas públicas da região sul do Município de São Paulo, SP -- Brasil. Foi obtida uma população de 545 sujeitos, distribuídos em 120 escolas. Elaborou-se questionário auto-aplicável, estruturado com base em estudo exploratório. RESULTADOS: A população apresentou média de idade de 37,8 anos e média de tempo de magistério de 13,2 anos. A maioria (67,4%) não recebeu orientação em saúde ocular nos últimos três anos. Quase a totalidade (99,4%) acreditava na necessidade do uso constante de óculos; 62,3% consideraram ser o uso intensivo da visão fator agravante de distúrbios oftalmológicos; conseqüências danosas à visão por ver televisão a menos de 2 metros foram admitidas por 95% dos docentes e 59,9% deles acreditavam ser prejudicial à visão assistir à televisão com luzes apagadas; 45,6% acreditavam que a leitura em veículos em movimento pode causar problemas de visão. CONCLUSÕES: Foram evidenciadas crenças populares relacionadas à saúde ocular, mostrando a necessidade de prover orientação a professores para o desenvolvimento de ações de oftalmologia sanitária nas escolas de primeiro grau.

Agreement between data obtained from repeated interviews with a six-years interval

The objective of the study was to compare information collected through face-to-face interviews at first time and six years later in a city of Southeastern Brazil. In 1998, 32 mothers (N=32) of children aged 20 to 30 months answered a face-to-face interview with structured questions regarding their children's brushing habits. Six years later this same interview was repeated with the same mothers. Both interviews were compared for overall agreement, kappa and weighted kappa. Overall agreement between both interviews varied from 41 to 96%. Kappa values ranged from 0.00 to 0.65 (very bad to good) without any significant differences. The results showed lack of agreement when the same interview is conducted six years later, showing that the recall bias can be a methodological problem of interviews.

Stress diário e saúde ocular – Corioretinopatia serosa central: estudo de caso

Objectivos - Na sociedade atual as pessoas são diariamente expostas a inúmeras situações de stress. As exaltações vividas são transformadas em energia pulsional que por sua vez deve ser despendida segundo três vias: psíquica, motora e visceral. Se esta energia não for despendida pelas duas primeiras vias, acumula-se como carga psíquica originando tensão psíquica. A tensão gerada vai repercutir-se na saúde de cada indivíduo. Uma das causas da Coriorretinopatia Central Serosa (CRCS) é o stress. A CRCS é uma patologia de carácter esporádico, caracterizada por um descolamento seroso espontâneo da retina neuro sensorial na região macular, com consequente comprometimento da acuidade visual (AV). Sendo uma patologia de carácter esporádico desencadeada por situações de stress, pretende-se caracterizar as manifestações consequentes desta patologia, bem como abordar os factores diagnósticos da mesma, no caso em estudo. Metodologia - Estudo de caso. Análise de um paciente do sexo masculino, de 36 anos de idade, com diagnóstico de CRCS. Resultados - A CRCS caracteriza-se por um descolamento seroso da retina neuro sensorial na região macular, com comprometimento da visão. O paciente chegou à consulta com queixa de baixa de acuidade visual súbita do olho esquerdo. Realizaram-se exames para concluir o diagnóstico sendo estes, OCT, angiografia e avaliação da acuidade visual. Na angiografia verifica-se afeção da área macular, ao OCT verifica-se descolamento seroso da retina neuro sensorial na região macular. A acuidade visual era de 6/10 no olho esquerdo e 10/10 no olho direito. Apresentava ainda queixas de metamorfopsias. Discussão / Conclusão - Ainda que a etiologia da CRCS não seja totalmente conhecida, encontra-se associada a situações de stress, a hipertensão arterial, a comportamentos decorrentes da forma exagerada e ansiosa de viver, à competitividade, gravidez e medicação sistémica de esteróides. O tratamento inicial recomendado é repouso absoluto, caso se verifique insucesso o tratamento passará pela realização de terapia fotodinâmica.

Paracoccidioidomicose ocular: relato de um caso com coriorretinite posterior

É descrito um caso de paracoccidioidomicose com envolvimento ocular. Pela primeira vez descreve-se a presença do fungo em lesão granulomatosa de coróide. Os Autores revêm os casos de paracoccidioidomicose com acometimento do trato uveal já descritos na literatura e analisam os achados clínicos e anátomo-patológicos destes e do presente relato.