Biomarkers and Imaging Findings of Anderson-Fabry Disease-What We Know Now

Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder, caused by deficiency or absence of the alpha-galactosidase A activity, with a consequent glycosphingolipid accumulation. Biomarkers and imaging findings may be useful for diagnosis, identification of an organ involvement, therapy monitoring and prognosis. The aim of this article is to review the current available literature on biomarkers and imaging findings of AFD patients. An extensive bibliographic review from PubMed, Medline and Clinical Key databases was performed by a group of experts from nephrology, neurology, genetics, cardiology and internal medicine, aiming for consensus. Lyso-GB3 is a valuable biomarker to establish the diagnosis. Proteinuria and creatinine are the most valuable to detect renal damage. Troponin I and high-sensitivity assays for cardiac troponin T can identify patients with cardiac lesions, but new techniques of cardiac imaging are essential to detect incipient damage. Specific cerebrovascular imaging findings are present in AFD patients. Techniques as metabolomics and proteomics have been developed in order to find an AFD fingerprint. Lyso-GB3 is important for evaluating the pathogenic mutations and monitoring the response to treatment. Many biomarkers can detect renal, cardiac and cerebrovascular involvement, but none of these have proved to be important to monitoring the response to treatment. Imaging features are preferred in order to find cardiac and cerebrovascular compromise in AFD patients.info:eu-repo/semantics/publishedVersio

Automatic image characterization of psoriasis lesions

Psoriasis is a chronic skin disease that affects 125 million people worldwide and, par-ticularly, 2% of the Spanish population, characterized by the appearance of skin lesions due to a growth of the epidermis that is seven times larger than usual. Its diagnosis and monitoring are based on the use of methodologies for measuring the severity and extent of these spots, and this includes a large subjective component. For this reason, this paper presents an automatic method for characterizing psoriasis images that is divided into four parts: image preparation or pre-processing, feature extraction, classification of the lesions, and the obtaining of parameters. The methodology proposed in this work covers different digital-image processing techniques, namely, marker-based image delimitation, hair removal, nipple detection, lesion contour detection, areal-measurement-based lesion classification, as well as lesion characterization by means of red and white intensity. The results obtained were also endorsed by a professional dermatologist. This methodology provides professionals with a common software tool for monitoring the different existing typologies, which proved satisfactory in the cases analyzed for a set of 20 images corresponding to different types of lesions

Efficacy And Safety Of Implantable Loop Recorder: Experience Of A Center

Introduction: Symptoms like syncope or palpitations frequently present a diagnostic challenge. An implantable loop recorder (ILR) is an important aid in the management of these patients. Methods: A retrospective study of patients that underwent ILR implantation from November 2007 to 2014. For each patient the indication for implantation, baseline characteristics, previous study, complications, recorded tracing and interventions were evaluated. Results: A total of 62 patients were included, 50% men, with a mean age of 62.5±18.8 years old. Previously to ILR implantation 88.7% of patients had performed Holter, 17.7% external events recorder, 33.9% Tilt test and 29% an electrophysiological study. The implantation indications were recurrent syncope in 90.3%, palpitations 8.1% and ischemic stroke in one patient. Mean follow-up time was 17.1±16.3 months. Symptoms were reported in 66.1% of the patients, 46.8% of those yielding a diagnostic finding. In all cases of palpitation complaints with diagnosis we found atrial fibrillation (AF). In patients with syncope atrioventricular conduction disturbance was demonstrated in 19.6%, sinus node dysfunction in 16.1%, paroxysmal supra-ventricular tachycardia 7.1% and AF in 1.8%. These finding resulted in 19 pacemaker and one CRT-D implantation, introduction of anticoagulation in five patients and one ablation of accessory pathway. There were no major complications. Conclusion: ILR proved to be safe and efficient. It has enabled the identification or exclusion of serious rhythm disturbances in more than half of patients and provided a targeted therapeutic intervention.info:eu-repo/semantics/publishedVersio

Morphometry of the larger foraminifer Heterostegina explaining environmental dependence, evolution and paleogeographic diversification

The cosmopolitan, symbiont-bearing, larger benthic foraminifer (LBF) Heterostegina sensu lato prefers oligotrophic environments in tropical and warm-temperate seas. Harboring diatoms enables this species to be found across a wide illumination gradient from intertidal pools, where H. depressa protects against strongest illumination by occupying cryptic habitat, down to the base of the euphotic zone. Sheltered cryptic habitat, such as in holes of boulders, allows this species to live in highly energetic zones down to the fairweather wave base. Dependence on light for photosynthesis of its endosymbionts is managed by increasing surface/volume ratios of the test correlated with decreasing light, resulting in test flattening. Hydrodynamics also influences reproductive strategies. In high energy environments, asexual reproduction by schizogony dominates, while sexual reproduction (gametogony) is the dominant mode under low energy conditions. Thus, there is a shift in proportions between schizonts with smaller proloculi and gamonts with larger proluculi along the hydrodynamic gradient. Because there is a negative correlation between proloculus size and the number of chambers undivided by septula (operculinid chambers), the latter character shows negative dependence along the hydrodynamic gradient. Both proloculus size and number of operculinid chambers have been used as metric characters not only in the evolution of Heterostegina lineages starting in the middle Eocene, but also in many other nummulitds (e.g., Nummulites, Spiroclypeus, Cycloclypeus), totally neglecting the environmental dependence. Additionally, proloculus size can differ between biogeographically different populations (e.g., Okinawa and Hawaii) taken under similar hydrodynamic conditions. Using growth-independent and growth-invariant characters to describe the internal test morphology can enhance interpretation of evolutionary tendencies as distinct from environmental and paleogeographic diversification

Wave-induced extreme water levels in the Puerto Morelos fringing reef lagoon

Wave-induced extreme water levels in the Puerto Morelos fringing reef lagoon are investigated by means of a phase-resolving non-hydrostatic wave model (SWASH). This model solves the nonlinear shallow water equations including non-hydrostatic pressure. The one-dimensional version of the model is implemented in order to investigate wave transformation in fringing reefs. Firstly, the numerical model is validated with (i) laboratory experiments conducted on a physical model (Demirbilek et al., 2007)and (ii) field observations (Coronado et al., 2007). Numerical results show good agreement with both experimental and field data. The comparison against the physical model results, for energetic wave conditions, indicates that high- and low-frequency wave transformation is well reproduced. Moreover, extreme water-level conditions measured during the passage of Hurricane Ivan in Puerto Morelos are also estimated by the numerical tool. Subsequently, the model is implemented at different along-reef locations in Puerto Morelos. Extreme water levels, wave-induced setup, and infragravity wave energy are estimated inside the reef lagoon for different storm wave conditions (<i>H</i><sub>s</sub> >2 m). The numerical results revealed a strong correlation between the offshore sea-swell wave energy and the setup. In contrast, infragravity waves are shown to be the result of a more complex pattern which heavily relies on the reef geometry. Indeed, the southern end of the reef lagoon provides evidence of resonance excitation, suggesting that the reef barrier may act as either a natural flood protection morphological feature, or as an inundation hazard enhancer depending on the incident wave conditions

Efeito da autocorrelação residual na avaliação genética de cabras para a produção de leite e para o formato da curva de lactação.

Avaliou-se o efeito da autocorrelação residual sobre a qualidade das estimativas dos parâmetros genéticos para produção total de leite (PL) e para os coeficientes a, b e c do modelo de Wood e, consequentemente, sobre a classificação dos animais para estas características. O modelo de Wood foi ajustado às lactações de cabras considerando-se três situações de estrutura residual: (EI) ? erros independentes, (AR1) ? erros autorregressivos de primeira ordem e (EI ? AR1) ? erros AR1 somente para as lactações que apresentaram autocorrelação residual significativa e EI para as demais. As estimativas dos coeficientes a, b e c e PL foram utilizadas como variáveis dependentes em um modelo animal multicaracterístico, o qual incluiu os efeitos aleatórios de animal e de ambiente permanente e os efeitos fixos de grupo contemporâneo, número de crias por parto, grupos genéticos e ordem de parto, além das covariáveis duração da lactação e a idade da cabra ao parto. As diferentes estruturas residuais afetaram as estimativas dos parâmetros genéticos e as classificações dos animais para as características estudadas. Portanto, a seleção dos animais pode ser modificada pela presença da autocorrelação residual, sendo a estrutura EI-AR1 uma alternativa para contornar este problema

Teste de envelhecimento acelerado em sementes de maxixe (Cucumis anguria L.).

Com o objetivo de determinar o periodo ideal para a avaliacao do vigor de sementes de maxixe atraves do teste de envelhecimento acelerado, cinco lotes de sementes foram analisados. As sementes foram distribuidas sobre bandejas de tela de aluminio, fixadas no interior de caixas plasticas, tipo gerbox, e submetidas a um ambiente (estufa incubadora para B.O.D.) com temperatura de 41oC e umidade relativa de, aproximadamente 100% por periodos de 24, 48, 72 e 96 horas. Decorridos estes periodos, as sementes foram colocadas para germinar a alternancia de temperaturas de 20-30oC, utilizando-se como substrato papel mata-borrao e oito horas de luz na maior temperatura. Os trabalhos foram realizados no Laboratorio de Analise de Sementes e num campo experimental da EMBRAPA Semi-Arido, em Petrolina- PE, no periodo de janeiro a marco de 1997. As determinacoes foram conduzidas com quatro repeticoes em delineamento inteiramente casualizado, sendo a comparacao entre as medias efetuada atraves do teste de Tukey, a 5% de probabilidade. Os resultados indicaram que o periodo de 24 horas nao foi eficiente para promover a separacao dos lotes quanto ao vigor, enquanto os periodos de 72 e 96 horas, alem de nao serem eficientes na separacao dos lotes quanto ao vigor, mostraram-se excessivamente drasticos. O periodo de 48 horas de envelhecimento acelerado possibilitou a melhor identificacao dos lotes com diferentes niveis de vigor. Nao houve correlacao entre os resultados do teste de envelhecimento acelerado e a emergencia de plantulas (...