BACKGROUND: Mutations in ryanodine receptor 1 gene (RYR1) are frequent causes of myopathies. They classically present with central core disease; however, clinical variability and histopathologic overlap are being increasingly recognized. PATIENTS: Patient 1 is a 15-year-old girl with mild proximal, four-limb weakness from age 5, presenting with a progressive scoliosis starting at age 10. Patient 2 is an 18-yea...
Ganoderma lucidum is one of the most extensively studied mushrooms as a functional food and as a chemopreventive agent due to its recognized medicinal properties. Some G. lucidum extracts have shown promising antitumor potential. In this study, the bioactive properties of various extracts of G. lucidum, from both the fruiting body and the spores, were investigated. The most potent extract identified was the met...
O Pseudohipoparatiroidismo (PHP) é uma doença de transmissão genética. descrita por Albright em 1942 e constitui o primeiro síndrome endócrino em que se reconheceu resistência dos orgãos alvo a uma hormona. Foram também associadas a esta situação um conjunto de alterações fenotípicas, denominadas Osteodistrofia Hereditária de Albright (OHA) que, no entanto, podem também surgir sem alteração dos níveis de Cálcio...
This paper evaluates the impact of PCM-drywalls in the annual and monthly heating and cooling energy savings of an air-conditioned lightweight steel-framed (LSF) residential single-zone building, considering real-life conditions and several European climates. A multi-dimensional optimization study is carried out by combining EnergyPlus and GenOpt tools. The CondFD-algorithm is used in EnergyPlus to simulate pha...
The Dehsalm porphyritic shallow intrusives belong to the Lut Block volcanic-plutonic belt (central eastern Iran). Previous research on alteration, mineralization and hydrothermal fluids indicates that a Cu-Mo porphyry type mineralization system is related with these intrusives (Arjmandzadeh et al., 2012). The rocks studied in this work range in composition from gabbro-diorite to granite, with dominance of monzo...
Mitochondrial function and energy metabolism are affected in brains of human cocaine abusers. Cocaine is known to induce mitochondrial dysfunction in cardiac and hepatic tissues, but its effects on brain bioenergetics are less documented. Furthermore, the combination of cocaine and opioids (speedball) was also shown to induce mitochondrial dysfunction. In this work, we compared the effects of cocaine and/or mor...
Pulse oximetry is a widely used technique in biomedical analyses. It enables monitoring the percentage of saturated hemoglobin and heart pulse in a noninvasive way.The mandatory permanence of patients in medical facilitiesdue to continuous measurements of blood oxygen saturationand cardiac pulse can be avoided by taking advantage of nowadays telecommunications technologies. This paperdescribes a pulse oximeter ...
A associação de rochas intrusivas hipabissais, de textura geralmente porfirítica, da zona de Dehsalm faz parte da cintura vulcano-plutónica do Bloco de Lut, na parte central da região oriental do Irão. Estudos anteriores incidindo sobre a alteração, as mineralizações e o papel dos fluidos hidrotermais revelaram que, em consequência da instalação das referidas rochas intrusivas, teve lugar a actividade de um sis...
Automatic calibration is preferred because it provides an objective and extensive searching in the feasible parameter space. In this study, the Modified Shuffled Complex Evolution (MSCE) optimization algorithm is applied to automatically calibrate the physically-based spatially-distributed hydrological model SHETRAN in the 705-km2 semi-arid Cobres basin in southern Portugal, with a spatial resolution of 2 km an...
Introduction: Simultaneous pancreas-kidney transplantation (SPKT) outcomes are conditioned in the short-term mostly by post-operative complications. In the long-term, cardiovascular (CV) disease and immunological loss are the main limitations to transplant survival. Aims: To analyse retrospectively the results from 150 SPKT performed at our centre. Patients and Methods: The 81 females and 69 males had a mea...
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