Multifocalidade e Estereopsia

Introdução: A visão binocular proporciona uma interpretação única e tridimensional do mundo. Objectivo: Comparar a estereopsia dos doentes com de lentes intra-oculares (LIO) multifocais implantadas. Métodos: Os autores realizaram um estudo transversal com 40 doentes, que tinham sido submetidos a facoemulsificação com implante de LIO multifocal bilateralmente (26 Restor, 6 tecnis Multifocal e 8 "Mix & Match"). Estudaram a estereopsia de longe com o Vectograph e utilizaram o "Titmus Stereo Test" para perto, nos 3 grupos. Resultados: No grupo 1 (Restor bilateral: idade média 63,38 anos; 4 doentes do sexo masculino e 22 do feminino) obtivemos 80 a 90% de boa estereopsia; no grupo 2 (Tecnis Multifocal bilateral: idade média 73,67 anos; 6 doentes do sexo feminino) registou-se 100% de boa estereopsia e no grupo 3 ("Mix & Match": idade média 74,25 anos; 2 doentes do sexo masculino e 6 do feminino) obteve-se 50 a 75% de boa estereopsia. Conclusões: Os doentes com lentes intra-oculares multifocais similares implantadas bilateralmente obtiveram melhor estereopsia para perto e para longe

Multiple phenotypic domains of fabry disease and their relevance for establishing genotype-phenotype correlations

Fabry disease (FD) is a rare X-linked glycosphingolipidosis resulting from deficient a-galactosidase A (AGAL) activity, caused by pathogenic mutations in the GLA gene. In males, the multisystemic involvement and the severity of tissue injury are critically dependent on the level of AGAL residual enzyme activity (REA) and on the metabolic load of the disease, but organ susceptibility to damage varies widely, with heart appearing as the most vulnerable to storage pathology, even with relatively high REA. The expression of FD can be conceived as a multidomain phenotype, where each of the component domains is the laboratory or clinical expression of the causative GLA mutation along a complex pathophysiologic cascade pathway. The AGAL enzyme activity is the most clinically useful marker of the protein phenotype. The metabolic phenotype and the pathologic phenotype are diverse expressions of the storage pathology, respectively, assessed by biochemical and histological/ultrastructural methods. The storage phenotypes are the direct consequences of enzyme deficiency and hence, together with the enzymatic phenotype, constitute the more specific diagnostic markers of FD. In the pathophysiology cascade, the clinical phenotypes are most distantly linked to the underlying genetic causation, being critically influenced by the patients’ gender and age, and modulated by the effects of variation in other genetic loci, of polygenic inheritance and of environmental risk factors. A major challenge in the clinical phenotyping of patients with FD is the differential diagnosis between its nonspecific, later-onset complications, particularly the cerebrovascular, cardiac and renal, and similar chronic illnesses that are common in the general population. Comprehensive phenotyping, whenever possible performed in hemizygous males, is therefore crucial for grading the severity of pathogenic GLA variants, to clarify the phenotypic correlations of hypomorphic alleles, to define benign polymorphisms, as well as to establish the pathogenicity of variants of uncertain significance

Macular and Optic Disc Edema and Retinal Vascular Leakage in Familial Amyloid Polyneuropathy with a Transthyretin Val30Met Mutation: a Case Report

Introduction: Familial amyloid polyneuropathy is a group of autosomal dominant disorders characterized by extracellular amyloid deposition in several target organs. This paper aims to report an unusual manifestation of retinal vascular leakage including optic disc and macular edema in a patient with familial amyloid polyneuropathy. Case presentation: A 37-year-old Portuguese Caucasian man with Val30Met transthyretin-related familial amyloid polyneuropathy presented with rapidly progressing visual loss in his left eye. He had undergone liver transplantation at the age of 30 with neurologic stabilization. Fundoscopy and fluorescein angiogram revealed optic disc and macular edema as well as vessel wall staining with leakage in the posterior pole and mid-periphery, without vitreous opacities. A diagnostic work-up for infectious, autoimmune and neoplasic conditions was negative. Systemic immunosuppression was increased but without improvement. Sustained resolution of macular edema was observed after intravitreal injection of dexamethasone implant and laser panretinal photocoagulation. Conclusions: To the best of our knowledge, this is the first report of a rare ocular manifestation of familial amyloid polyneuropathy which represents a new therapeutic challenge. Intravitreal injection of sustained release dexamethasone implant and panretinal photocoagulation may be an effective eye-saving therapeutic approach.info:eu-repo/semantics/publishedVersio

Primary Production and Nutrient Content in Two Salt Marsh

Seasonal variation patterns of aboveground and belowground biomass, net primary production, and nutrient accumulation were assessed in Atriplex portulacoides L. and Limoniastrum monopetalum (L.) Boiss. in Castro Marim salt marsh, Portugal. Sampling was conducted for five periods during 2001–2002 (autumn, winter, spring, summer, and autumn). This study indicates that both species have a clear seasonal variation pattern for both aboveground and belowground biomass. Mean live biomass was 2516 g m22 yr21 for L. monopetalum and 598 g m22 yr21 for A. portulacoides. Peak living biomass, in spring for both species, was three times greater in the former, 3502 g m22 yr21, than in the latter, 1077 g m22 yr21. For both the Smalley (Groenendijk 1984) and Weigert and Evans (1964) methods, productivity of L. monopetalum (2917 and 3635 g m22 yr21, respectively) was greater than that of A. portulacoides (1002 and 1615 g m22 yr21, respectively). Belowground biomass of L. monopetalum was 1.7 times greater than that of A. portulacoides. In spite of this, the root:shoot ratio for A. portulacoides was greater throughout the year. This shows that A. portulacoides allocates more biomass to roots and L. monopetalum to aerial components. Leaf area index was similar for both species, but specific leaf area of A. portulacoides was twice that of L. monopetalum. The greatest nutrient contents were found in leaves. Leaf nitrogen content was maximum in summer for both species (14.6 mg g21 for A. portulacoides and 15.5 mg g21 for L. monopetalum). Leaf phosphorus concentration was minimum in summer (1.1 mg g21 in A. portulacoides and 1.2 mg g21 in L. monopetalum). Leaf potassium contents in A. portulacoides were around three times greater than in L. monopetalum. Leaf calcium contents in L. monopetalum were three times greater than in A. portulacoides. There was a pronounced seasonal variation of calcium content in the former, while in the latter no clear variation was registered. Both species exhibited a decrease in magnesium leaf contents in the summer period. Manganese content in L. monopetalum leaves was tenfold that in A. portulacoides. Seasonal patterns of nutrient contents in A. portulacoides and L. monopetalum suggest that availability of these elements was not a limiting factor to biomass production

Is It Possible to Simplify Risk Stratification Scores for Patients with ST-Segment Elevation Myocardial Infarction Undergoing Primary Angioplasty?

INTRODUCTION: There are several risk scores for stratification of patients with ST-segment elevation myocardial infarction (STEMI), the most widely used of which are the TIMI and GRACE scores. However, these are complex and require several variables. The aim of this study was to obtain a reduced model with fewer variables and similar predictive and discriminative ability. METHODS: We studied 607 patients (age 62 years, SD=13; 76% male) who were admitted with STEMI and underwent successful primary angioplasty. Our endpoints were all-cause in-hospital and 30-day mortality. Considering all variables from the TIMI and GRACE risk scores, multivariate logistic regression models were fitted to the data to identify the variables that best predicted death. RESULTS: Compared to the TIMI score, the GRACE score had better predictive and discriminative performance for in-hospital mortality, with similar results for 30-day mortality. After data modeling, the variables with highest predictive ability were age, serum creatinine, heart failure and the occurrence of cardiac arrest. The new predictive model was compared with the GRACE risk score, after internal validation using 10-fold cross validation. A similar discriminative performance was obtained and some improvement was achieved in estimates of probabilities of death (increased for patients who died and decreased for those who did not). CONCLUSION: It is possible to simplify risk stratification scores for STEMI and primary angioplasty using only four variables (age, serum creatinine, heart failure and cardiac arrest). This simplified model maintained a good predictive and discriminative performance for short-term mortality

Será o Implante de iStent® uma Cirurgia do Canal de Schlemm? Avaliação por OCT Spectral Domain de Segmento Anterior

Introdução: O iStent® “trabecular micro-bypass stent modelo GTS100R/L” tem resultados comprovados na cirurgia do glaucoma de ângulo aberto. Descrito como cirurgia ab interno do canal de Schlemm, visa criar um bypass entre a câmara anterior e este canal, ultrapassando a malha trabecular – principal resistência à drenagem de humor aquoso. Os autores visam estudar o papel do OCT de segmento anterior (SA) na localização do iStent® e uma eventual relação entre o seu posicionamento a eficácia hipotensora. Material e Métodos: Estudo transversal descritivo em que se avaliaram 17 olhos de 17 doentes submetidos a cirurgia de facoemulsificação combinada com iStent®, com um ano de follow-up. Estudou-se o ângulo irido-corneano com OCT spectral domain de SA (Heidelberg Spectralis®) e realizou-se uma avaliação oftalmológica que incluiu medição da pressão intra-ocular (PIO) com tonómetro de Goldmann e gonioscopia. Resultados: Em todos os olhos foi possível localizar o iStent® no ângulo da câmara anterior, porém apenas 4 pareciam estar no canal de Schlemm, estando os restantes na malha trabecular ou esporão escleral. Nos 4 olhos com implante no canal verificou-se uma redução média da PIO de 6,0 mmHg relativamente aos valores pré-operatórios, nos restantes essa redução foi 5,36 mmHg. Esta diferença não é estatisticamente significativa (p>0,05). Conclusões: O OCT spectral domain de SA é um método eficiente para determinar o posicionamento do iStent® no ângulo. Apesar da maioria das extremidades distais dos dispositivos não se encontrarem no canal de Schlemm, estes ultrapassaram a resistência da malha trabecular, pelo que a localização não parece comprometer a eficácia hipotensora.info:eu-repo/semantics/publishedVersio

Lower Extremity Burns with Bone Exposure: Reconstruction with Dermal Regeneration Template

Introdução: As soluções reconstrutivas das queimaduras dos membros inferiores com exposição óssea (transferência de tecidos vascularizados) e dos defeitos do escalpe, não susceptíveis de encerramento com retalhos locais (expansão tecidual), são complexas, morosas e, por vezes, inviáveis. O recurso a substitutos cutâneos biológicos, como a matriz de regeneração dérmica, constitui uma importante alternativa às soluções reconstrutivas tradicionais. Relato dos casos: Estudo retrospectivo de 246 doentes com queimaduras dos membros inferiores, admitidos na Unidade de Queimados/Serviço de Cirurgia Plástica do nosso Centro Hospitalar, entre Janeiro de 2007 e Dezembro de 2008. Os autores apresentam 2 casos clínicos com queimaduras bilaterais das pernas e com exposição óssea. Nos dois casos, realizou-se desbridamento tangencial e encerramento das áreas cruentas com um substituto cutâneo, a matriz de regeneração dérmica. Na 4ª semana após a aplicação da matriz, o componente externo da membrana bilaminar foi substituído por enxerto de pele parcial. Obteve-se cobertura estável das áreas cruentas, sem necessidade de procedimentos cirúrgicos adicionais. Conclusões: A utilização de substitutos dérmicos expande as opções reconstrutivas nos casos de queimaduras com exposição óssea dos membros inferiores. A utilização da matriz biológica permitiu a preservação dos membros nos dois pacientes. A matriz de regeneração dérmica possibilitou uma cobertura estável de estruturas vitais, sem necessidade de transferência ou expansão tecidual e com morbilidade mínima

Pancreatite Hipertrigliceridémica: Tratamento Convencional Versus Troca Plasmática Terapêutica

Introduction: Acute pancreatitis (AP) induced by hypertriglyceridemia (HTG) can be treated with therapeutic plasma exchange (TPE), resulting in rapid reduction of triglyceride level. However, there are no definitive comparative studies that prove the real benefits of this therapy. Objectives: Comparison of treatment methods (TPE versus conventional) in patients with HTG AP during a period of 12 years (2000-2012). Methods: Retrospective, descriptive and inferential analysis of 37 patients, evaluating: gender, age, personal pathologic history, severity of disease, HTG values and evolution depending on treatment with therapeutic plasma exchange (“TPE”) or with conventional therapy (“C”). Results: Both groups TPE and C demonstrated homogeneity considering gender (p = 0.647), age (43.5 ± 9.74 years TPE vs 45.30 ± 9.90 years C; p = 0.320), prior AP episode (40% TPE vs 40.7% C; p = 1.0), chronic alcohol consumption (50% TPE vs 70.4% C; p = 0.275) and severity disease scores: APACHE II (p = 0.054) and Ranson (p = 0.258). More than one secondary HTG risk factor was presented in 45.95% of patients . TPE group presented higher TG levels at admission: 4850 ± 2802 mg/dL vs 1845 ± 1858 mg/dL (p = 0.001). No significant statistical differences were observed considering length of hospital stay [14.2 ± 6.8 days vs 13.5 ± 9.0 days (p = 0.56)] or mortality rate (p = 0.47). At discharge, TG reduction was greater in TPE group: 4433.70 ± 2896.08 mg/dL – 91.41% vs 1582.95 ± 2051.06 mg/dL – 83,92% (p = 0.002). Six minor complications associated to TPE occurred. Discussion/Conclusion: Despite the selection bias (retrospective study), a greater TG reduction was observed with TPE technique. Complications associated with the technique were simple to resolveinfo:eu-repo/semantics/publishedVersio

Phacoemulsification Versus Peripheral Iridotomy in the Management of Chronic Primary Angle Closure: Long-Term Follow-Up

Primary angle closure occurs as a result of crowded anterior segment anatomy, causing appositional contact between the peripheral iris and trabecular meshwork, thereby obstructing aqueous outflow. Several studies highlight the role of the crystalline lens in its pathogenesis. The objective of this work is to compare the long-term efficacy of phacoemulsification versus laser peripheral iridotomy (LPI) in the management of chronic primary angle closure (CPAC). Prospective case-control study with 30 eyes of 30 patients randomly divided in two groups: 15 eyes in the LPI group and 15 eyes in the IOL group. Patients in the LPI group underwent LPI using argon and Nd:YAG laser. Patients in the IOL group underwent phacoemulsification with posterior chamber intraocular lens (IOL) implantation. Examinations before and after the procedure included gonioscopy, Goldmann applanation tonometry, and anterior chamber evaluation using the Pentacam rotating Scheimpflug camera. The mean follow-up time was 31.13 ± 4.97 months. There was a statistically significant reduction in the intraocular pressure (IOP) and number of anti-glaucoma medications (p < 0.01) only in the IOL group. Anterior chamber depth, angle, and volume were all higher in the IOL group (p < 0.01) at the end of the follow-up period. Phacoemulsification with posterior chamber IOL implantation results in a higher anterior chamber depth, angle, and volume, when compared to LPI. Consequently, phacoemulsification has greater efficacy in lowering IOP and preventing its long-term increase in patients with CPAC and cataract