A supervised versus home-based program effects on liver transplanted familial amyloidotic polyneuropathy patients: walking, fatigue and quality of life

Purpose: To evaluate the effects of a six months exercise training program on walking capacity, fatigue and health related quality of life (HRQL). Relevance: Familial amyloidotic polyneuropathy disease (FAP) is an autossomic neurodegenerative disease, related with systemic deposition of amyloidal fibre mainly on peripheral nervous system and mainly produced in the liver. FAP often results in severe functional limitations. Liver transplantation is used as the only therapy so far, that stop the progression of some aspects of this disease. Transplantation requires aggressive medication which impairs muscle metabolism and associated to surgery process and previous possible functional impairments, could lead to serious deconditioning. Reports of fatigue are common feature in transplanted patients. The effect of supervised or home-based exercise training programs in FAP patients after a liver transplant (FAPTX) is currently unknown.

Comparison of body fat content and distribution of familial amyloidotic polyneuropathy patients versus healthy subjects

The deposition of amyloid fibers at the peripheral nervous system can induce motor neuropathy in Familial Amiloidotic Polyneuropethy (FAP) patients. This produces progressive reductions in functional capacity. The only treatment for FAP is a liver transplant, followed by aggressive medication that can affect patients' metabolism. To our knowledge, there are no data on body fat distribution or comparison between healthy and FAP subjects, which may be important for clinical assessment and management of this disease. PURPOSE: To analyze body fat content and distribution between FAP patients and healthy subjects. METHODS: Body fat content and distribution were measured through Double Energy X-ray Densitometry (DXA) in two groups. Group 1 consisted of 43 Familial Amyloidotic Polyneuropathy patients (19 males, 32 + 8 Yrs, and 24 females, 37 + 5 yrs), who had liver transplant less than 2 months before. Group 2 consisted of 18 healthy subjects of similar age (8 males, 36 + 7 yrs, and 10 females, 39 + 5 yrs). RESULTS: Healthy subjects showed higher values than FAP patients for: BMI (24,2+2,3kg/m2 vs 22,3+3,8 kg/m2 respectively, p<0,05), % trunk BF (26,21+8,34kg vs 20,78+9,05kg respectively, p<0,05), % visceral BF (24,43+7,97% vs 19,21+9,30% respectively, p<0,05), % abdominal BF (26,63+8,51% vs 20,63+10,35% respectively, p<0,05) abdominal subcutaneous BF (0,533+0,421kg vs 0,353+0,257kg respectively, p=0,05), abdominal BF/BF ratio (0,09+0,02 vs 0,08+0,02 respectively, p<0,05) and abdominal BF/trunk BF ratio (0,19+0,03 vs 0,17+0,03 respectively, p<0,05). CONCLUSIONS: These results showed that FAP patients soon after liver transplantation exhibited a healthier body fat profile compared to controls. However, fat content and distribution varied widely in FAP subjects, suggesting an individualized approach for assessment and intervention rather than general guidelines. Future research is needed to investigate the long term consequences on body fat following liver transplant in this population.

Comparison of body fat content and distribution of familial amyloidotic polyneuropathy patients versus healthy subjects

The deposition of amyloid fibers at the peripheral nervous system can induce motor neuropathy in Familial Amiloidotic Polyneuropethy (FAP) patients. This produces progressive reductions in functional capacity. The only treatment for FAP is a liver transplant, followed by aggressive medication that can affect patients' metabolism. To our knowledge, there are no data on body fat distribution or comparison between healthy and FAP subjects, which may be important for clinical assessment and management of this disease.

Strength, muscle quality and functional capacity in liver transplanted familial amyloidotic polineuropathy patients

Liver transplantation is the unique treatment for several end-stage diseases. Familial Amiloidotic Polineuropathy (FAP) is a neurodegenerative disease related with systemic deposition of amyloidal fiber mainly on peripheral nervous system, clinically translated by an autonomous sensitive-motor neuropathy with severe functional limitations in some cases. The unique treatment for FAP disease is a liver transplant with a very aggressive medication to muscle metabolism and force production. To our knowledge there are no quantitative characterizations of body composition, strength or functional capacity in this population.

Peak force in familial amyloidotic polyneuropathy

Familial Amyloidotic Polyneuropathy FAP)- A neurodegenerative disease related with systemic deposition of amyloid fibers mainly at the level of the peripheral nervous system. Clinically, the disease is characterized by an autonomous sensitive-motor neuropathy, beginning nearly always in foot, and subsequently involving the hands. Purpose: Compare the levels of hand grip strength (peak force) in FAP patients with (FAPT) or without (FAPNT) liver transplant and in a healthy group (HG).

A supervised versus home-based program effects on liver transplanted familial amyloidotic polyneuropathy patients: walking, fatigue and quality of life

Familial amyloidotic polyneuropathy is a systemic deposition of amyloidal fibre mainly on peripheral nervous system (but also in other systems like heart, gastrointestinal tract, kidneys, etc) and mainly produced in the liver. Purpose of this study: to evaluate the effects of a six months exercise training program(supervised or home-based) on walking capacity, fatigue and health related quality of life (HRQL) on Familial Amyloidotic Polyneuropathy patients submitted to a liver transplant.

Phototransistor with nanocrystalline Si/amorphous Si bilayer channel

We report a field-effect phototransistor with a channel comprising a thin nanocrystalline silicon transport layer and a thicker hydrogenated amorphous silicon absorption layer. The semiconductor and dielectric layers were deposited by radio-frequency plasma enhanced chemical vapor deposition. The phototransistor with channel length of 24 microns and photosensitive area of 1.4 mm(2) shows an off-current of about 1 pA, and high photoconductive gain in the subthreshold region. Measurements of the quantum efficiency at different incident light intensities and biasing conditions, along with spectral-response characteristics, and threshold voltage stability characterization demonstrate the feasibility of the phototransistor for low light level detection.

Seasonal variation of total particulate matter and children respiratory diseases at Lisbon primary schools using passive methods

In this work, 14 primary schools of Lisbon city, Portugal, followed a questionnaire of the ISAAC - International Study of Asthma and Allergies in Childhood Program, in 2009/2010. The questionnaire contained questions to identify children with respiratory diseases (wheeze, asthma and rhinitis). Total particulate matter (TPM) was passively collected inside two classrooms of each of 14 primary schools. Two types of filter matrices were used to collect TPM: Millipore (IsoporeTM) polycarbonate and quartz. Three campaigns were selected for the measurement of TPM: Spring, Autumn and Winter. The highest difference between the two types of filters is that the mass of collected particles was higher in quartz filters than in polycarbonate filters, even if their correlation is excellent. The highest TPM depositions occurred between October 2009 and March 2010, when related with rhinitis proportion. Rhinitis was found to be related to TPM when the data were grouped seasonally and averaged for all the schools. For the data of 2006/2007, the seasonal variation was found to be related to outdoor particle deposition (below 10 μm).

Base molecular da hemocromatose hereditária não-clássica em Portugal

A Hemocromatose Hereditária (HH) é uma doença autossómica recessiva caracterizada pela absorção excessiva de ferro a nível intestinal e sua acumulação em órgãos vitais, podendo originar cardiomiopatia, cirrose e carcinoma hepatocelular. O correspondente diagnóstico molecular é obtido pela associação com genótipos específicos no gene HFE (homozigotia para p.Cys282Tyr ou heterozigotia composta p.Cys282Tyr/p.His63Asp). Contudo, nos países do sul da Europa, cerca de um terço dos doentes com diagnóstico clínico de HH não apresenta os referidos genótipos. Para identificar a base molecular da HH não-clássica em Portugal usaram-se metodologias de pesquisa geral de variantes genéticas (SSCP e dHPLC), Next-Generation Sequencing (NGS) e sequenciação de Sanger, cobrindo seis genes relacionados com o metabolismo do ferro em 303 doentes. Identificaram-se 69 variantes diferentes e de vários tipos, por ex. missense, nonsense, de splicing, que perturbam a transcrição do gene ou a regulação da tradução do mRNA. Seguidamente, realizaram-se estudos in silico e in vitro para esclarecer o significado etiológico de algumas das novas variantes. Concluiu-se que a base molecular desta patologia é bastante heterogénea e que a NGS é uma ferramenta adequada para efetuar a análise simultânea dos vários genes num grande número de amostras. Contudo, o estabelecimento da relevância clínica de algumas variantes requer a realização de estudos funcionais.

Eliminação do Cr(VI) na fase de neutralização de um efluente industrial proveniente de processos de galvanoplastia

A presente tese teve por base a identificação e resolução de um problema existente no tratamento de efluentes provenientes dos processos de tratamento de superfícies por galvanoplastia, na OGMA – Indústria Aeronáutica de Portugal S.A.. Observou-se a ocorrência, esporádica, de crómio hexavalente, (Cr (VI)), em valor superior ao valor limite de emissão (VLE). Os resultados foram monitorizados e os dados recolhidos no decorrer da actividade de tratamento de efluentes, durante o período de, aproximadamente, 5 anos (2006 a 2011). A recolha de resultados decorreu no âmbito da actividade profissional da mestranda, que, para além da responsabilidade técnica dos processos de galvanoplastia na empresa, é também responsável pelo suporte técnico ao processo de tratamento de efluentes resultantes da actividade de tratamento de superficies por processos de galvanoplastia. A empresa OGMA – Indústria Aeronáutica de Portugal S.A., é uma empresa de actividade aeronáutica dedicada à Fabricação e Manutenção de aeronaves, nomeadamente a prestação de serviços de Manutenção, Revisão e Modernização de, Aeronaves, Motores e Componentes, bem como Fabricação e Montagem de Aeroestruturas. Integrada na OGMA, S.A. encontra-se a área de tratamentos electroquímicos, onde são realizados processos de tratamento de materiais metálicos por electrodeposição, deposição química e conversão química. Desta actividade resulta uma quantidade considerável de efluentes líquidos que necessitam de tratamento adequado previamente à sua descarga em cursos de água. Devido ao tipo de contaminantes que estes efluentes possuem, o tratamento dos mesmos é realizado em várias etapas, passando pela oxidação de cianetos, a redução de cromatos e a neutralização. Posteriormente segue-se uma sedimentação e a remoção de lamas. De modo a garantir um controlo dos parâmetros de descarga dos efluentes tratados, de acordo com a legislação ambiental em vigor, o efluente obtido é analisado periodicamente em laboratório acreditado. Na perspectiva de solucionar o problema em questão, procedeu-se à realização de ensaios experimentais utilizando os efluentes provenientes dos tanques de reacção da redução de cromatos e da oxidação de cianetos da linha com cádmio, com especial incidência na variação dos intervalos de pH recomendados para cada uma das fases do tratamento de efluentes, e observação do comportamento das misturas em termos de presença de Cr (VI), quando sujeitos a variações de pH. Após análise dos dados disponíveis e realização de todos os ensaios, conclui-se que, o processo de oxidação de cianeto da linha com cádmio e o processo de redução de cromatos na mesma linha estão a funcionar adequadamente. Concluiu-se que o reaparecimento de Cr (VI) ocorre devido à existência de hipoclorito de sódio, em excesso, no tanque de oxidação de cianeto que, quando passa para o tanque de neutralização e entra em contacto com o efluente proveniente do tanque de redução de cromatos, oxida parte do crómio trivalente, (Cr (III)), existente, a Cr (VI). Para impedir a ocorrência deste fenómeno separou-se todo o efluente contendo crómio que passou a ser tratado na linha de tratamento de efluentes isenta de cádmio, não entrando assim em contacto com o efluente que contém hipoclorito não reagido, evitando a oxidação do Cr (III) a Cr (VI).

Nanocrystalline p-layer for a-Si:H p-i-n solar cells and photodiodes

We report on structural, electronic, and optical properties of boron-doped, hydrogenated nanocrystalline silicon (nc-Si:H) thin films deposited by plasma-enhanced chemical vapor deposition (PECVD) at a substrate temperature of 150 degrees C. Film properties were studied as a function of trimethylboron-to-silane ratio and film thickness. The absorption loss of 25% at a wavelength of 400 nm was measured for the 20 nm thick films on glass and glass/ZnO:Al substrates. By employing the p(+) nc-Si:H as a window layer, complete p-i-n structures were fabricated and characterized. Low leakage current and enhanced sensitivity in the UV/blue range were achieved by incorporating an a-SiC:H buffer between the p- and i-layers.

Bias-dependent photocurrent collection in p-i-n a-Si : H/SiC : H heterojunction

A series of large area single layers and glass/ZnO:AVp(SixC1-x:H)/i(Si:H)/n(SixC1-x:H)/AI (0 < x < 1) heterojunction cells were produced by plasma-enhanced chemical vapour deposition (PE-CVD) at low temperature. Junction properties, carrier transport and photogeneration are investigated from dark and illuminated current-voltage (J-V) and capacitance-voltage (C-V) characteristics. For the heterojunction cells atypical J-V characteristics under different illumination conditions are observed leading to poor fill factors. High series resistances around 106 Q are also measured. These experimental results were used as a basis for the numerical simulation of the energy band diagram, and the electrical field distribution of the structures. Further comparison with the sensor performance gave satisfactory agreement. Results show that the conduction band offset is the most limiting parameter for the optimal collection of the photogenerated carriers. As the optical gap increases and the conductivity of the doped layers decreases, the transport mechanism changes from a drift to a diffusion-limited process.

New p-i-n Si : H imager configuration for spatial resolution improvement

Amorphous glass/ZnO-Al/p(a-Si:H)/i(a-Si:H)/n(a-Si1-xCx:H)/Al imagers with different n-layer resistivities were produced by plasma enhanced chemical vapour deposition technique (PE-CVD). An image is projected onto the sensing element and leads to spatially confined depletion regions that can be readout by scanning the photodiode with a low-power modulated laser beam. The essence of the scheme is the analog readout, and the absence of semiconductor arrays or electrode potential manipulations to transfer the information coming from the transducer. The influence of the intensity of the optical image projected onto the sensor surface is correlated with the sensor output characteristics (sensitivity, linearity blooming, resolution and signal-to-noise ratio) are analysed for different material compositions (0.5 < x < 1). The results show that the responsivity and the spatial resolution are limited by the conductivity of the doped layers. An enhancement of one order of magnitude in the image intensity signal and on the spatial resolution are achieved at 0.2 mW cm(-2) light flux by decreasing the n-layer conductivity by the same amount. A physical model supported by electrical simulation gives insight into the image-sensing technique used.

Optical properties and transport in PLD-GaN

We present structural, optical and transport data on GaN samples grown by hybrid, two-step low temperature pulsed laser deposition. The band gap of samples with good crystallinity has been deduced from optical spectra. Large below gap band tails were observed. In samples with the lowest crystalline quality the PL spectra are quite dependent on spot laser incidence. The most intense PL lines can be attributed to excitons bounded to stacking faults. When the crystalline quality of the samples is increased the ubiquitous yellow emission band can be detected following a quenching process described by a similar activation energy to that one found in MOCVD grown samples. The samples with the highest quality present, besides the yellow band, show a large near band edge emission which peaked at 3.47 eV and could be observed up to room temperature. The large width of the NBE is attributed to effect of a wide distribution of band tail states on the excitons. Photoconductivity data supports this interpretation.

Strength, muscle quality and functional capacity in liver transplanted familial amyloidotic polineuropathy patients

Liver transplantation is the unique treatment for several end stage diseases. Familial Amiloidotic Polineuropathy (FAP) is a neurodegenerative disease related with systemic deposition of amyloidal fibre mainly on peripheral nervous system, clinically translated by an autonomous sensitive-motor neuropathy with severe functional limitations in some cases. The unique treatment for FAP disease is a liver transplant with a very aggressive medication to muscle metabolism and force production. To our knowledge there are no quantitative characterizations of body composition, strength or functional capacity in this population. The purpose of this study was to compare levels of specific strength (isometric strength adjusted by lean mass or muscle quality) and functional capacity (meters in 6 minutes walk test) between FAP patients after a liver transplant (4.1±2 months after transplant surgery) (FAPT) and a healthy group (HG).