Body composition, muscle strength, functional capacity, and physical disability risk in liver transplanted familial amyloidotic polyneuropathy patients

Abstract: Background: Familial amyloidotic polyneuropathy (FAP) is a neurodegenerative disease leading to sensory and motor polyneuropathies, and functional limitations. Liver transplantation is the only treatment for FAP, requiring medication that negatively affects bone and muscle metabolism. The aim of this study was to compare body composition, levels of specific strength, level of physical disability risk, and functional capacity of transplanted FAP patients (FAPTx) with a group of healthy individuals (CON). Methods: A group of patients with 48 FAPTx (28 men, 20 women) was compared with 24 CON individuals (14 men, 10 women). Body composition was assessed by dual-energy X-ray absorptiometry, and total skeletal muscle mass (TBSMM) and skeletal muscle index (SMI) were calculated. Handgrip strength was measured for both hands as was isometric strength of quadriceps. Muscle quality (MQ) was ascertained by the ratio of strength to muscle mass. Functional capacity was assessed by the six-minute walk test. Results: Patients with FAPTx had significantly lower functional capacity, weight, body mass index, total fat mass, TBSMM, SMI, lean mass, muscle strength, MQ, and bone mineral density. Conclusion: Patients with FAPTx appear to be at particularly high risk of functional disability, suggesting an important role for an early and appropriately designed rehabilitation program.

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.

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).

Individuals with mental disabilities: perceptions of work limitations

This research investigates the perceptions that individuals with mental illnesses have about the employment experience as a whole. Survey data from 72 respondents with mental disabilities were used to identify areas of perceived work limitations. Comparisons regarding employee work performance were made between eleven individuals with mental disabilities and their supervisors. Functional limitations identified by respondents with mental disabilities and the characteristic symptoms set forth in the Diagnostic and Statistical Manual of Mental Disorders were compared. Overall findings showed that individuals with mental disabilities in this study had problems in the areas of judgment, initiative, interacting and rapport with co-workers and supervisors, frustration tolerance and coping with job stress, and adapting to changes at work. Comparison of identified work task difficulties with diagnostic criteria indicate active symptomatology to have an effect on job performance. Recommendations regarding occupational therapy assessment approaches and roles to facilitate ADA implementation are presented.

Rehabilitation of severely resorbed edentulous mandible using the modified visor osteotomy technique

The prosthetic rehabilitation of an atrophic mandible is usually unsatisfactory due to the lack of support tissues, mainly bone and keratinized mucosa for treatment with osseointegrated implants or even conventional prosthesis. The prosthetic instability leads to social and functional limitations and chronic physical trauma decreasing the patient's quality of life. A 53-year-old female patient sought care at our surgical service complaining of impairment of her masticatory function associated with the instability of the lower total prosthetic denture. The clinical and complementary exams revealed edentulism in both arches, while the mandibular arch presented severe reabsorption resulting in denture instability and chronic trauma to the oral mucosa. The proposed treatment plan consisted in the mandibular rehabilitation with osseointegrated implants and fixed Brånemark's protocol prosthesis after mandibular reconstruction applying the modified visor osteotomy technique. The proposed technique offered predictable results for reconstruction of the severely resorbed edentulous mandible and posterior rehabilitation with osseointegrated implants.

Survival and quality of life of patients with oral and oropharyngeal cancer at 1-year follow-up of tumor resection

OBJECTIVE: This study aimed to assess the survival and life quality evolution of patients subjected to surgical excision of oral and oropharyngeal squamous cell carcinoma. MATERIAL AND METHODS: Forty-seven patients treated at a Brazilian healthcare unit specialized in head and neck surgery between 2006 and 2007 were enrolled in the study. The gathering of data comprised reviewing hospital files and applying the University of Washington Quality of Life (UW-QOL) questionnaire previously and 1 year after the surgery. Comparative analysis used Poisson regression to assess factors associated with survival and a paired t-test to compare preoperative and 1-year postoperative QOL ratings. RESULTS: 1 year after surgery, 7 patients were not found (dropout of the cohort); 15 had died and 25 fulfilled the UW-QOL again. The risk of death was associated with having regional metastasis previously to surgery (relative risk=2.18; 95% confidence interval=1.09-5.17) and tumor size T3 or T4 (RR=2.30; 95%CI=1.05-5.04). Survivors presented significantly (p<0.05) poorer overall and domain-specific ratings of quality of life. Chewing presented the largest reduction: from 74.0 before surgery to 34.0 one year later. Anxiety was the only domain whose average rating increased (from 36.0 to 70.7). CONCLUSIONS: The prospective assessment of survival and quality of life may contribute to anticipate interventions aimed at reducing the incidence of functional limitations in patients with oral and oropharyngeal cancer.

Dizziness after traumatic brain injury: Overview and measurement in the clinical setting

Traumatic brain injury (TBI) may result in a variety of cognitive, behavioural and physical impairments. Dizziness has been reported in up to 80% of cases within the first few days after injury. The literature was reviewed to attempt to delineate prevalence of dizziness as a symptom, impairments causing dizziness, the functional limitations it causes and its measurement. The literature provides widely differing estimates of prevalence and vestibular system dysfunction appears to be the best reported of impairments contributing to this symptom. The variety of results is discussed and other possible causes for dizziness were reviewed. Functional difficulties caused by dizziness were not reported for this population in the literature and review of cognitive impairments suggests that existing measurement tools for dizziness may be problematic in this population. Research on the functional impact of dizziness in the TBI population and measurement of these symptoms appears to be warranted.

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.

Effects of an exercise training program in physical condition after liver transplantation in familial amyloidotic polyneuropathy: a case report

Introduction: Familial amyloidotic polyneuropathy (FAP) is a neurodegenerative disease that leads to sensory and motor polyneuropathies as well as functional limitations. So far, liver transplantation is the only treatment for FAP because the mutated protein causing the disease is mainly produced in the liver. With the increasing survival of transplant recipients, functional and cardiovascular problems as consequences of immunosuppressant side effects are increasing associated with sedentary lifestyles and/or retransplantation status. We sought to analyze the impact of exercise training programs on 1 FAP patient’s course long-term after liver transplantation. Methodology. A FAP patient (female; 49 years of age; body mass index 18.8 kg/m2) underwent a liver transplantation 133 months before assessment. She was assessed for body composition, isometric quadriceps muscle strength, functional capacity, fatigue, and levels of physical activity before and after a 6-month period of combined exercise training. Results: After the exercise training program, almost all variables were improved, namely, total body skeletal muscle mass, proximal femoral bone mineral density, quadriceps strength, maximal oxygen consumption on 6 minutes walk test (6mwt) or VO2peak, total ventilation on 6mwt, and fatigue. The improvement in distance on 6mwt (69.2 m) was clinically significant. Preintervention the levels of physical activity were below international recommendations for health; after the program they achieved the recommendations. Conclusion: The results showed an improvement in functional capacity with a decrease in future disability risk associated with a better lifestyle with respect to physical activity levels in 1 patient.

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.

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.

Avaliação da participação em crianças e jovens com paralisia cerebral, na ilha de S. Miguel, Açores

Introdução: Nas crianças/jovens com Paralisia Cerebral (PC), as limitações motoras repercutem-se em limitações funcionais e, consequentemente, na diminuição da participação em ocupações. Sendo as manifestações da PC diferentes de indivíduo para indivíduo, estas vão refletir, dependendo da gravidade, quadro motor, ambiente físico e social, diferentes níveis de participação. Objetivo: O objetivo deste estudo foi avaliar a relação entre a idade, sexo e grau de comprometimento motor e a participação em crianças/jovens com diagnóstico de paralisia cerebral com idades compreendidas entre os 5 e os 18 anos na ilha de São Miguel. Amostra e Métodos: 25 crianças de ambos os sexos (5- 18 anos), sinalizadas em instituições especializadas de reabilitação e em Centros de Atividades Ocupações (CAO’s) na Ilha de São Miguel – Açores. Foram aplicados dois instrumentos de avaliação às crianças/jovens, Gross Motor Function Measure e Quality of Upper Extremity Skills Test, e foram entregues aos pais os outros dois instrumentos para autopreenchimento, Assessment of Life Habits e Child Health Questionnaire – Parent- Form 50. Na análise estatística, recorreu-se a testes como o Kolmogorov-Smirnov, Tstudent ou Mann-Whitney, teste de Fisher, teste de Spearman e ANOVA. Resultados: Não foram encontradas relações significativas entre a idade e o sexo e o nível de participação das crianças/jovens com PC. Contrariamente, ao avaliarmos a relação entre o grau de participação e o grau de afetação verificamos que esta é significativa (p=0,004). Conclusão: Na nossa amostra não se encontrou uma influência da idade e do sexo com a frequência da participação (relações não foram significativas). Contudo, pode-se concluir que as crianças/jovens que apresentam menos limitações motoras, como as que se enquadram no nível I/II da Gross Motor Function Classification System, apresentam níveis de participação maiores do que as que apresentam níveis de afetação motora maiores (Nível V)

O processo de reconhecimento, validação e certificação de competências em adultos com deficiências e incapacidades

Dissertação apresentada à Escola Superior de Educação de Lisboa para obtenção de grau de mestre em Ciências da Educação - Especialidade Educação Especial

Intervenção da fisioterapia na esclerose múltipla: uma revisão da literatura

Mestrado em Fisioterapia

Stepwise evaluation of unexplained syncope in a large ambulatory population.

BACKGROUND: Up to 60% of syncopal episodes remain unexplained. We report the results of a standardized, stepwise evaluation of patients referred to an ambulatory clinic for unexplained syncope. METHODS AND RESULTS: We studied 939 consecutive patients referred for unexplained syncope, who underwent a standardized evaluation, including history, physical examination, electrocardiogram, head-up tilt testing (HUTT), carotid sinus massage (CSM) and hyperventilation testing (HYV). Echocardiogram and stress test were performed when underlying heart disease was initially suspected. Electrophysiological study (EPS) and implantable loop recorder (ILR) were used only in patients with underlying structural heart disease or major unexplained syncope. We identified a cause of syncope in 66% of patients, including 27% vasovagal, 14% psychogenic, 6% arrhythmias, and 6% hypotension. Noninvasive testing identified 92% and invasive testing an additional 8% of the causes. HUTT yielded 38%, CSM 28%, HYV 49%, EPS 22%, and ILR 56% of diagnoses. On average, patients with arrhythmic causes were older, had a lower functional capacity, longer P-wave duration, and presented with fewer prodromes than patients with vasovagal or psychogenic syncope. CONCLUSIONS: A standardized stepwise evaluation emphasizing noninvasive tests yielded 2/3 of causes in patients referred to an ambulatory clinic for unexplained syncope. Neurally mediated and psychogenic mechanisms were behind >50% of episodes, while cardiac arrhythmias were uncommon. Sudden syncope, particularly in older patients with functional limitations or a prolonged P-wave, suggests an arrhythmic cause.