Familial amyloid polyneuropathy (FAP): clinical features, pathophysiology and treatment

In the literature, concepts of “polyneuropathy”, “peripheral neuropathy” and “neuropathy” are often mistakenly used as synonyms. Polyneuropathy is a specific term that refers to a relatively homogenous process that affects multiple peripheral nerves. Most of these tend to present as symmetric polyneuropathies that first manifest in the distal portions of the affected nerves. Many of these distal symmetric polyneuropathies are due to toxic-metabolic causes such as alcohol abuse and diabetes mellitus. Other distal symmetric polyneuropathies may result from an overproduction of substances that result in nerve pathology such as is observed in anti-MAG neuropathy and monoclonal gammopathy of undetermined significance. Other “overproduction” disorders are hereditary such as noted in the Portuguese type of familial amyloid polyneuropathy (FAP). FAP is a manifestation of a group of hereditary amyloidoses; an autosomal dominant, multisystemic disorder wherein the mutant amyloid precursor, transthyretin, is produced in excess primarily by the liver. The liver accounts for approximately 98% of all transthyretin production. FAP is confirmed by detecting a transthyretin variant with a methionine for valine substitution at position 30 [TTR (Met30)]. Familial Amyloidotic Polyneuropathy (FAP) – Portuguese type was first described by a Portuguese neurologist, Corino de Andrade in 1939 and published in 1951. Most persons with this disorder are descended from Portuguese sailors who sired offspring in various locations, primarily in Sweden, Japan and Mallorca. Their descendants emigrated worldwide such that this disorder has been reported in other countries as well. More than 2000 symptomatic cases have been reported in Portugal. FAP progresses rapidly with an average time course from symptom onset to multi-organ involvement and death between ten and twenty years. Treatments directed at removing this aberrant protein such as plasmapheresis and immunoadsorption proved to be unsuccessful. Liver transplantation has been the only effective solution as evidenced by almost 2000 liver transplants performed worldwide. A therapy for FAP with a novel agent, “Tafamidis” has shown some promise in ongoing phase III clinical trials. It is well recognized that regular physical activity of moderate intensity has a positive effect on physical fitness as gauged by body composition, aerobic capacity, muscular strength and endurance and flexibility. Physical fitness has been reported to result in the reduction of symptoms and lesser impairment when performing activities of daily living. Exercise has been advocated as part of a comprehensive approach to the treatment of chronic diseases. Therefore, this chapter concludes with a discussion of the role of exercise training on FAP.

Parental predictors of poor visual outcome with occlusion treatment for unilateral amblyopia

Aim: Visual acuity outcome of amblyopia treatment depends on the compliance. This study aimed to determine parental predictors of poor visual outcome with occlusion treatment in unilateral amblyopia and identify the relationship between occlusion recommendations and the patient's actual dose of occlusion reported by the parents. Methods: This study comprised three phases: refractive adaptation for a period of 18 weeks after spectacle correction; occlusion of 3 to 6 hours per day during a period of 6 months; questionnaire administration and completion by parents. Visual acuity as assessed using the Sheridan-Gardiner singles or Snellen acuity chart was used as a measure of visual outcome. Correlation analysis was used to describe the strength and direction of two variables: prescribed occlusion reported by the doctor and actual dose reported by parents. A logistic binary model was adjusted using the following variables: severity, vulnerability, self-efficacy, behaviour intentions, perceived efficacy and treatment barriers, parents' and childrens' age, and parents' level of education. Results: The study included 100 parents (mean age 38.9 years, SD approx 9.2) of 100 children (mean age 6.3 years, SD approx 2.4) with amblyopia. Twenty-eight percent of children had no improvement in visual acuity. The results showed a positive mild correlation (kappa = 0.54) between the prescribed occlusion and actual dose reported by parents. Three predictors for poor visual outcome with occlusion were identified: parents' level of education (OR = 9.28; 95%CI 1.32-65.41); treatment barriers (OR = 2.75; 95%CI 1.22-6.20); interaction between severity and vulnerability (OR = 3.64; 95%CI 1.21-10.93). Severity (OR = 0.07; 95%CI 0.00-0.72) and vulnerability (OR = 0.06; 95%CI 0.05-0.74) when considered in isolation were identified as protective factors. Conclusions: Parents frequently do not use the correct dosage of occlusion as recommended. Parents' educational level and awareness of treatment barriers were predictors of poor visual outcome. Lower levels of education represented a 9-times higher risk of having a poor visual outcome with occlusion treatment.

Agent Inferencing Meets the Semantic Web

We provide all agent; the capability to infer the relations (assertions) entailed by the rules that, describe the formal semantics of art RDFS knowledge-base. The proposed inferencing process formulates each semantic restriction as a rule implemented within a, SPARQL query statement. The process expands the original RDF graph into a fuller graph that. explicitly captures the rule's described semantics. The approach is currently being explored in order to support descriptions that follow the generic Semantic Web Rule Language. An experiment, using the Fire-Brigade domain, a small-scale knowledge-base, is adopted to illustrate the agent modeling method and the inferencing process.

A hybrid approach to multi-agent decision-making

In the aftermath of a large-scale disaster, agents' decisions derive from self-interested (e.g. survival), common-good (e.g. victims' rescue) and teamwork (e.g. fire extinction) motivations. However, current decision-theoretic models are either purely individual or purely collective and find it difficult to deal with motivational attitudes; on the other hand, mental-state based models find it difficult to deal with uncertainty. We propose a hybrid, CvI-JI, approach that combines: i) collective 'versus' individual (CvI) decisions, founded on the Markov decision process (MDP) quantitative evaluation of joint-actions, and ii)joint-intentions (JI) formulation of teamwork, founded on the belief-desire-intention (BDI) architecture of general mental-state based reasoning. The CvI-JI evaluation explores the performance's improvement

RFID together with multi-agent systems to control global value chains

Nowadays, the cooperative intelligent transport systems are part of a largest system. Transportations are modal operations integrated in logistics and, logistics is the main process of the supply chain management. The supply chain strategic management as a simultaneous local and global value chain is a collaborative/cooperative organization of stakeholders, many times in co-opetition, to perform a service to the customers respecting the time, place, price and quality levels. The transportation, like other logistics operations must add value, which is achieved in this case through compression lead times and order fulfillments. The complex supplier's network and the distribution channels must be efficient and the integral visibility (monitoring and tracing) of supply chain is a significant source of competitive advantage. Nowadays, the competition is not discussed between companies but among supply chains. This paper aims to evidence the current and emerging manufacturing and logistics system challenges as a new field of opportunities for the automation and control systems research community. Furthermore, the paper forecasts the use of radio frequency identification (RFID) technologies integrated into an information and communication technologies (ICT) framework based on distributed artificial intelligence (DAI) supported by a multi-agent system (MAS), as the most value advantage of supply chain management (SCM) in a cooperative intelligent logistics systems. Logistical platforms (production or distribution) as nodes of added value of supplying and distribution networks are proposed as critical points of the visibility of the inventory, where these technological needs are more evident.

Cork processing wastewater treatment/valorisation by nanofiltration

Nanofiltration process for the treatment/valorisation of cork processing wastewaters was studied. A DS-5 DK 20/40 (GE Water Technologies) nanofiltration membrane/module was used, having 2.09 m(2) of surface area. Hydraulic permeability was determined with pure water and the result was 5.2 L.h(-1).m(-2).bar(-1). The membrane presents a rejection of 51% and 99% for NaCl and MgSO4 salts, respectively. Two different types of regimes were used in the wastewaters filtration process, total recycling mode and concentration mode. The first filtration regime showed that the most favourable working transmembrane pressure was 7 bar working at 25 degrees C. For the concentration mode experiments it was observed a 30% decline of the permeate fluxes when a volumetric concentration factor of 5 was reached. The permeate COD, BOD5, colour and TOC rejection values remained well above the 90% value, which allows, therefore, the concentration of organic matter (namely the tannin fraction) in the concentrate stream that can be further used by other industries. The permeate characterization showed that it cannot be directly discharged to the environment as it does not fulfil the values of the Portuguese discharge legislation. However, the permeate stream can be recycled to the process (boiling tanks) as it presents no colour and low TOC (< 60 ppm) or if wastewater discharge is envisaged we have observed that the permeate biodegradability is higher than 0.5, which renders conventional wastewater treatments feasible.

Nanofiltration for the treatment of coke plant ammoniacal wastewaters

This work addresses the treatment by nanofiltration (NF) of solutions containing NaCN and NH(4)Cl at various pH values. The NF experiments are carried out in a Lab-Unit equipped with NF-270 membranes for model solutions that are surrogates of industrial ammoniacal wastewaters generated in the coke-making processes. The applied pressure is 30 bar. The main objective is the separation of the compounds NaCN and NH(4)Cl and the optimization of this separation as a function of the pH. Membrane performance is highly dependent on solution composition and characteristics, namely on the pH. In fact, the rejection coefficients for the binary model solution containing sodium cyanide are always higher than the rejections coefficients for the ammonium chloride model solution. For ternary solutions (cyanide/ammonium/water) it was observed that for pH values lower than 9 the rejection coefficients to ammonium are well above the ones observed for the cyanides, but for pH values higher than 9.5 there is a drastic decrease in the ammonium rejection coefficients with the increase of the pH. These results take into account the changes that occur in solution, namely, the solute species that are predominant, with the increase of the pH. The fluxes of the model solutions decreased with increased pH. (C) 2010 Elsevier B.V. All rights reserved.

Study on the glycerolysis reaction of high free fatty acid oils for use as biodiesel feedstock

Biodiesel is the main alternative to fossil diesel and it may be produced from different feedstocks such as semi-refined vegetable oils, waste frying oils or animal fats. However, these feedstocks usually contain significant amounts of free fatty acids (FFA) that make them inadequate for the direct base catalyzed transesterification reaction (where the FFA content should be lower than 4%). The present work describes a possible method for the pre-treatment of oils with a high content of FFA (20 to 50%) by esterification with glycerol. In order to reduce the FFA content, the reaction between these FFA and an esterification agent is carried out before the transesterification reaction. The reaction kinetics was studied in terms of its main factors such astemperature, % of glycerin excess, % of catalyst used, stirring velocity and type of catalyst used. The results showed that glycerolysis is a promising pretreatment to acidic oils or fats (> 20%) as they led to the production of an intermediary material with a low content of FFA that can be used directly in thetransesterification reaction for the production of biodiesel. (C) 2011 Elsevier B.V. All rights reserved.