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.

Effects of a randomized trial of exercise on body composition of liver transplanted patients

Liver transplantation is used as a only therapy so far, that stop the progression of some aspects of familial amyloidotic polyneuropathy disease (FAP) an autossomic neurodegenerative disease. FAP often results in severe functional limitations. Transplantation requires aggressive medication which impairs bone and muscle metabolism. Malnutrition plus weight loss is already one feature of FAP patients. All this may produce negative consequences on body composition. The effect of exercise training in FAP patients after a liver transplant (FAPTX) is currently unknown. The purpose of this study is to evaluate the effects of a six months exercise training program on body composition in FAPTX patients.

Composição corporal, capacidade funcional e tempo em lista activa em indivíduos submetidos a transplante hepático por polineuropatia amiloidótica familiar

PAF–Doença neurodegenerativa relacionada com a produção hepática de Transtirretina met30 e respectiva deposição sistémica principalmente no sistema nervoso periférico, que se traduz clinicamente por uma neuropatia sensitivo-motora de início periférico e com graves limitações funcionais em alguns casos. Actualmente, o único tratamento conhecido para a PAF é o transplante hepático com medicação agressiva para o metabolismo muscular e ósseo e para a produção de força. Não existe actualmente qualquer caracterização quantitativa da composição corporal ou capacidade funcional para esta população. Objectivos do estudo: comparar a composição corporal e capacidade funcional entre doentes PAF transplantados (PAFT) e um grupo de indivíduos aparentemente saudáveis (GC); analisar possíveis relações entre composição corporal e capacidade funcional e tempo de espera para a cirurgia.

A importância da actividade física em pacientes submetidos a transplante hepático: estudo longitudinal

Prémio da Sociedade Portuguesa de Hepatologia para melhor comunicação oral.

Efeitos de um programa de exercício físico na aptidão física pós-transplante hepático por polineuropatia amiloidótica familiar: estudo de caso

Polineuropatia Amiloidotica Familiar (PAF) – Amiloidose sistémica heredo-degenerativa e autossómica dominante, cuja manifestação predominante é a polineuropatia mista sensitiva motora e autonómica. Mutação no cromossoma 18: substituição da Valina por Metionina TTR mutada e respectiva deposição sistémica. Objectivos do estudo: verificar o impacto de um programa de exercício combinado na composição corporal, na força muscular, na capacidade funcional, nos níveis de fadiga e nos níveis de actividade física.

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.

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).

Influência de um programa de exercício na aptidão física pós-transplante hepático: o caso da polineuropatia amiloidótica familiar nas suas componentes composição corporal, capacidade funcional e função neuromuscular

Portugal é o país que mais transplantes hepáticos efectuou a nível mundial e o segundo com maior número de dadores por milhão de habitantes, com a região centro do país a liderar a doação de órgãos. Esta liderança na área da transplantação hepática contribui também para as elevadas taxas de sobrevivência destes doentes, suportada pela excelência técnica de uma equipa multidisciplinar diferenciada, complementada por recentes avanços terapêuticos. Portugal é, também a nível mundial, o país com maior número de casos de polineuropatia amiloidótica familiar (PAF), variante TTRmet30 (proteína transtirretina mutada) tipo português, diagnosticados, sendo em algumas regiões considerada como uma doença endémica. Apesar de novas terapêuticas em estudo (exemplo: Tafamidis), até à data o transplante hepático parece ser a única terapêutica com eficácia ao retardar ou mesmo na estabilização da evolução desta doença hereditária e degenerativa, progressiva e fatal no prazo de 10-15 anos após o início da sintomatologia.

Unified min-max and interlacing theorems for linear operators

There exist striking analogies in the behaviour of eigenvalues of Hermitian compact operators, singular values of compact operators and invariant factors of homomorphisms of modules over principal ideal domains, namely diagonalization theorems, interlacing inequalities and Courant-Fischer type formulae. Carlson and Sa [D. Carlson and E.M. Sa, Generalized minimax and interlacing inequalities, Linear Multilinear Algebra 15 (1984) pp. 77-103.] introduced an abstract structure, the s-space, where they proved unified versions of these theorems in the finite-dimensional case. We show that this unification can be done using modular lattices with Goldie dimension, which have a natural structure of s-space in the finite-dimensional case, and extend the unification to the countable-dimensional case.

Predicted VO2 on 6 minutes walk test for FAP liver transplanted patients

Physical function is limited post-liver transplantation and exercise training can improve exercise capacity following transplantation but previously assessment of functional capacity is necessary. The 6 minute walk test (6MWT) is routinely used for studying patient’s exercise capacity and is less expensive and time consuming than a Cardiopulmonary Exercise Test (CPXT). There have been some studies looking at the relationship between 6MWT and peak VO2 in patients but few presented an adequate equation for predicted peak VO2 from 6MWT to transplanted patients and none for Familial Amyloidotic Polyneuropathy (FAP) liver transplanted patients (FAPTx). The aim of this study was to compare the validity of 6 equations as predictors of VO2 from the 6MWT and compare it with directly measured VO2 in patients FAPTx.

The impact of exercise training on liver transplanted familial amyloidotic polyneuropathy (FAP) patients

Liver transplantation is nowadays the only effective answer to adjourn the outcome of functional limitations associated with familial amyloidotic polyneuropathy (FAP), a neurodegenerative disease characterized by sensory and motor polyneuropathies. Nevertheless, there is a detrimental impact associated with the after-surgery period on the fragile physical condition of these patients. Exercise training has been proven to be effective on reconditioning patients after transplantation. However, the effects of exercise training in liver transplanted FAP patients have not been scrutinized yet.

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.

Viver no singular

Dissertação de Mestrado, Ciências Sociais, 12 de Março de 2015, Universidade dos Açores.