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.

Consumo de bebida alcoólica e adiposidade abdominal em doadores de sangue

OBJETIVO: Analisar a associação entre o consumo de bebidas alcoólicas e adiposidade abdominal. MÉTODOS: Estudo transversal com uma amostra de homens doadores de sangue (N=1.235), de 20 a 59 anos, em Cuiabá (MT), realizado de agosto/1999 a janeiro/2000. Os indicadores de adiposidade abdominal foram circunferência da cintura e relação cintura/quadril, ajustados pela adiposidade total. As medidas aferidas foram: peso, estatura, circunferências da cintura e do quadril. O consumo de álcool foi avaliado utilizando-se um questionário sobre tipo, freqüência e quantidade da bebida consumida. A associação entre o consumo de álcool e adiposidade abdominal foi analisada por regressão linear múltipla, com os modelos ajustados para idade, atividade física, tabagismo e adiposidade total. RESULTADOS: Após ajuste, a circunferência da cintura e a relação cintura quadril mantiveram-se associadas positivamente ao consumo de cerveja (p=0,02) e ao total de álcool consumido (p=0,01 e 0,03, respectivamente). O consumo de aguardente mostrou associação somente com a circunferência da cintura (p=0,04). CONCLUSÕES: O consumo de álcool, particularmente de cerveja, associou-se com a localização abdominal de gordura.

Global material analysis on phosphorus flows, supply horizon and impact assessment on phosphorus depletion

Different problems are daily discuss on environmental aspects such acid rain, eutrophication, global warming and an others problems. Rarely do we find some discussions about phosphorus problematic. Through the years the phosphorus as been a real problem and must be more discussed. On this thesis was done a global material flow analysis of phosphorus, based on data from the year 2004, the production of phosphate rock in that year was 18.9 million tones, almost this amount it was used as fertilizer on the soil and the plants only can uptake, on average, 20% of the input of fertilizer to grow up, the remainder is lost for the phosphorus soil. In the phosphorus soil there is equilibrium between the phosphorus available to uptake from the plants and the phosphorus associate with other compounds, this equilibrium depends of the kind of soil and is related with the soil pH. A reserve inventory was done and we have 15,000 million tones as reserve, the amount that is economical available. The reserve base is estimated in 47,000 million tones. The major reserves can be found in Morocco and Western Sahara, United Sates, China and South Africa. The reserve estimated in 2009 was 15,000 million tone of phosphate rock or 1,963 million tone of P. If every year the mined phosphate rock is around 22 Mt/yr (phosphorus production on 2008 USGS 2009), and each year the consumption of phosphorus increases because of the food demand, the reserves of phosphate rock will be finished in about 90 years, or maybe even less. About the value/impact assessment was done a qualitative analysis, if on the future we don’t have more phosphate rock to produce fertilizers, it is expected a drop on the crops yields, each depends of the kind of the soil and the impact on the humans feed and animal production will not be a relevant problem. We can recovery phosphorus from different waste streams such as ploughing crop residues back into the soil, Food processing plants and food retailers, Human and animal excreta, Meat and bone meal, Manure fibre, Sewage sludge and wastewater. Some of these examples are developed in the paper.

Confiabilidade de questionário de conhecimento sobre exposição ao mercúrio na produção de ouro

A principal atividade econômica do município de Poconé, MT, é a produção de ouro. Visando reduzir a exposição ao mercúrio metálico as escolas realizam programas educativos para seus alunos. Foi desenvolvido um questionário para avaliar a eficácia desses programas no conhecimento de adolescentes sobre exposição ao mercúrio, em 2007. O questionário é autoaplicável com 12 perguntas. Foi testada a confiabilidade do instrumento por teste-reteste, conduzido com intervalo de 21 dias, com 128 estudantes da oitava série do ensino fundamental. Avaliou-se a confiabilidade pelo coeficiente kappa e teste do qui-quadrado de McNemar, resultando em concordância "moderada" até "quase perfeita".

Avaliação da aptidão física funcional de idosos hipertensos da Cidade da Praia, Cabo Verde: estudo piloto

Introdução – A avaliação da aptidão física permite a identificação de níveis de incapacidade e risco de perda funcional, pelo que é extremamente útil na estruturação de programas de atividade física específicos, que constituem a primeira intervenção no que toca à intervenção não-farmacológica na Hipertensão Arterial Sistémica (HAS). Objetivo – Avaliar a aptidão física funcional e os níveis de atividade física de idosos hipertensos da Cidade da Praia – Cabo Verde. Metodologia – A flexibilidade, força e resistência muscular, resistência aeróbia e composição corporal foram avaliadas através da bateria de Fullerton e dinamometria isométrica manual. O nível de atividade física foi avaliado pelo questionário Seven Day Physical Activity Recall (7D-PAR). Resultados – Participaram 75 idosos, com idades compreendidas entre os 60 e os 99 anos, 68% dos quais eram mulheres, com índice de massa corporal (IMC) de 25,2±5,4, com diagnóstico clínico de HAS. O tempo despendido em atividades de intensidade moderada encontrava-se dentro dos valores recomendados, embora a atividade intensa se encontrasse muito abaixo do recomendado e não efetuassem qualquer exercício de força e flexibilidade. A resistência aeróbia expressa pelo Teste 6 Minutos de Marcha (T6MM) apresentou valores médios baixos (293,5±112,2m), bem como a flexibilidade e a força de preensão. Esta associação é um indicador de baixa capacidade funcional. Conclusão – Os baixos níveis de aptidão física apresentados, associados a baixos níveis de atividade física indiciam baixa capacidade funcional e justificam a necessidade urgente da inserção de programas de atividade física nesta população.

Association between grip strength, anthropometric data and functional capacity

The hand is one of the most important instruments of the human body, mainly due to the possibility of grip movements. Grip strength has been described as an important predictor of functional capacity. There are several factors that may influence it, such as gender, age and anthropometric characteristics. Functional capacity refers to the ability to perform daily activities which allow the individual to self-care and to live with autonomy. Composite Physical Function (CPF) scale is an evaluation tool for functional capacity that includes daily activities, self-care, sports activities, upper limb function and gait capacity. In 2011, Portugal had 15% of young population (0-14years) and 19% of elderly population (over 65 years). Considering the double-ageing phenomen, it is important to understand the effect of the grip strength in elderly individuals, considering their characteristics, as the need to maintainin dependency as long as possible.

Study of the voltammetric behaviour of metam and its application to an amperometric flow system

The electrochemical behaviour of the pesticide metam (MT) at a glassy carbon working electrode (GCE) and at a hanging mercury drop electrode (HMDE) was investigated. Different voltammetric techniques, including cyclic voltammetry (CV) and square wave voltammetry (SWV), were used. An anodic peak (independent of pH) at +1.46 V vs AgCl/Ag was observed in MTaqueous solution using the GCE. SWV calibration curves were plotted under optimized conditions (pH 2.5 and frequency 50 Hz), which showed a linear response for 17–29 mg L−1. Electrochemical reduction was also explored, using the HMDE. A well defined cathodic peak was recorded at −0.72 V vs AgCl/ Ag, dependent on pH. After optimizing the operating conditions (pH 10.1, frequency 150 Hz, potential deposition −0.20 V for 10 s), calibration curves was measured in the concentration range 2.5×10−1 to 1.0 mg L−1 using SWV. The electrochemical behaviour of this compound facilitated the development of a flow injection analysis (FIA) system with amperometric detection for the quantification of MT in commercial formulations and spiked water samples. An assessment of the optimal FIA conditions indicated that the best analytical results were obtained at a potential of +1.30 V, an injection volume of 207 μL and an overall flow rate of 2.4 ml min−1. Real samples were analysed via calibration curves over the concentration range 1.3×10−2 to 1.3 mg L−1. Recoveries from the real samples (spiked waters and commercial formulations) were between 97.4 and 105.5%. The precision of the proposed method was evaluated by assessing the relative standard deviation (RSD %) of ten consecutive determinations of one sample (1.0 mg L−1), and the value obtained was 1.5%.

Do fatigue, physical activity, handgrip strength and quality of life change between pre and post liver transplant?

Analisar: níveis de fadiga, força de preensão, HRQoL, níveis de actividade física. Será que se alteram em doentes PAF após o transplante de fígado? Dado que os níveis de actividade física se encontram abaixo dos valores mínimos recomendados deveria ser encontrada uma estratégia de aumento do tempo dispendido na actividade física leve a moderada idealmente no PRÉ TRANSPLANTE.

Does diaphragmatic breathing technique really improve its range of motion? An objective assessment

Purpose - To verify the results of a diaphragmatic breathing technique (DBT) on diaphragmatic range of motion in healthy subjects. Methods - A total of 51 healthy subjects (10 male; 41 female), mean age 20 years old and a body mass index (BMI) ranging from 15.6 to 34.9 kg/m2, were enrolled in this study. Diaphragmatic range of motion was assessed by M-mode ultrasound imaging. Measurements were made before and after the DBT implementation in a standard protocol, based on 3 seconds of inspiration starting from a maximum expiration. Differences between assessments were analyzed by descriptive statistics and t-test (p < 0.05). Results - Mean value range of motion before DBT was 55.3 ± 13.4 mm and after DBT was 63.8 ± 13.2 mm showing a significant improvement of 8.5 ± 14.7 mm (p < 0.001). A strong correlation between the slope and the range of motion was found (r = 0.71, p < 0.001). Conclusions - Based on ultrasound measurements, it has been proved that DBT really contributes to a higher diaphragmatic range of motion. Future studies are needed in order to understand the influence of protocol parameters (e.g. inspiration time). Clinical implications - In the contest of evidence-based practice in physiotherapy, it has been showed by objective measurements that DBT improves the diaphragm range of motion, translating into a more efficient ventilatory function and thus can be used in clinical setting. To our knowledge this is the first study to assess the effects of DBT on range of motion of diaphragm muscle with ultrasound imaging.

Ventilação não invasiva durante o exercício em pacientes com DPOC: revisão sistemática com meta-análise

A DPOC é uma das principais causas mundiais de morbilidade e mortalidade, representando um problema de saúde pública devido ao elevado consumo de recursos sanitários e económicos associados. A reabilitação pulmonar é uma recomendação standard nos cuidados a estes pacientes, de forma a controlar os sintomas da doença e optimizar a capacidade funcional destes indivíduos, reduzindo assim os custos de saúde associados às exacerbações e limitação da actividade e participação. Contudo, em pacientes com DPOC severa o exercício físico pode ser de difícil desempenho devido a dispneia extrema, diminuição da força muscular e fadiga, ou inclusive hipoxemia e dispneia durante pequenos esforços e actividades diárias, limitando a sua qualidade de vida. Assim, a VNI tem sido usada em combinação com o exercício, de forma a melhorar a capacidade de exercício nestes doentes, ainda que sem consenso para a sua recomendação. Assim, tivemos como objectivo verificar se a utilização de VNI durante o exercício é mais eficaz que exercício sem VNI, na dispneia, distância percorrida, gasimetria e estado de saúde, em pacientes com DPOC, através de revisão sistemática e meta-análise.

Isolation and characterisation of metallothionein from the clam Ruditapes decussatus

Aquatic Toxicology 63 (2003) 307-318

Does 6-minutes walk test predict functional capacity in elderly people?

Portugal has an accentuated aging tendency, presenting an elderly population (individuals with more than 65 years old) of 19.2%. The average life expectancy is 79.2 years. Thus, it’s important to maintain autonomy and independency as long as possible. Functional ability concept rises from the need to evaluate the capacity to conduct daily activities in an independent way. It can be estimated with the 6-minute walk test (6MWT) and other validated test. This test is simple, reliable, valid and consists in a daily activity (walk). The goals of this study was to verify associations between functional capacity measured with two different instruments (6MWT and Composite Physical Function (CPF) scale) and between those results and characterization variables.

Non invasive ventilation during exercise in COPD patients: a systematic review with meta-analysis

COPD is a major cause of morbidity and mortality worldwide, representing a major public health problem due to the high health and economic resource consumption. Pulmonary rehabilitation is a standard care recommendation for these patients, in order to control the symptoms and optimize the functional capacity, reducing health care costs associated with exacerbations and activity limitations and participation. However, in patients with severe COPD exercise performance can be difficult, due to extreme dyspnea, decreased muscle strength and fatigue. In addition, hypoxemia and dyspnea during efforts and daily activities may occur, limiting their quality of life. Thus, NIV have been used as adjunct to exercise, in order to improve exercise capacity in these patients. However, there is no consensus for this technique recommendation. Our objective was to verify whether the use of NIV during exercise is effective than exercise without NIV in dyspnea, walked distance, blood gases and health status in COPD patients, through a systematic review and meta-analysis.

Choosing best components for an amputee: a methodology for the best decision-making

The harmony between the stump and the prosthesis is critical to allow it to fulfill its function enabling an efficient gait. A well fitted socket, with an efficient and comfortable suspension, allows the amputee to continue their daily living activities, maintaining the stump functional, making this correlation between socket and suspension very important in the functionality of the prosthesis, mobility and overall satisfaction with the device. Of our knowledge, the quantitative correlation between all of these factors as not yet been assessed. Aim of study: Verify and confirm the process of decision-making for four different trans-tibial prostheses with suspension systems: Hypobaric(A), PIN(B), Classic Suction(C) and Vacuum Active –VASS(D) according data provided by gait efficiency (mlO2/kg/m) imagiology (pistonning) and amputee perception.

Non-adherence to telemedicine interventions for drug users: systematic review

OBJECTIVE To estimate rates of non-adherence to telemedicine strategies aimed at treating drug addiction. METHODS A systematic review was conducted of randomized controlled trials investigating different telemedicine treatment methods for drug addiction. The following databases were consulted between May 18, 2012 and June 21, 2012: PubMed, PsycINFO, SciELO, Wiley (The Cochrane Library), Embase, Clinical trials and Google Scholar. The Grading of Recommendations Assessment, Development and Evaluation was used to evaluate the quality of the studies. The criteria evaluated were: appropriate sequence of data generation, allocation concealment, blinding, description of losses and exclusions and analysis by intention to treat. There were 274 studies selected, of which 20 were analyzed. RESULTS Non-adherence rates varied between 15.0% and 70.0%. The interventions evaluated were of at least three months duration and, although they all used telemedicine as support, treatment methods differed. Regarding the quality of the studies, the values also varied from very poor to high quality. High quality studies showed better adherence rates, as did those using more than one technique of intervention and a limited treatment time. Mono-user studies showed better adherence rates than poly-user studies. CONCLUSIONS Rates of non-adherence to treatment involving telemedicine on the part of users of psycho-active substances differed considerably, depending on the country, the intervention method, follow-up time and substances used. Using more than one technique of intervention, short duration of treatment and the type of substance used by patients appear to facilitate adherence.