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.

Bullying escolar – Intervenientes, ações e sentimentos associados: um estudo com alunos do 2º e 3º ciclos da região do Algarve

Introdução – O bullying pode ser definido como atitudes agressivas, intencionais e repetidas durante um período de tempo. Diversos estudos verificaram a prevalência de bullying entre estudantes de vários países e demonstraram que este é um problema internacional e que pelo menos um em cada dez estudantes está envolvido numa situação de bullying. Objetivos – Caracterizar as situações de bullying no ambiente escolar, o papel do estudante, os sentimentos associados a essas ações e identificar as características do agressor. Métodos – A amostra foi constituída por 519 alunos matriculados em duas escolas da região sul de Portugal que preencheram um questionário anónimo sobre uma situação de bullying que vivenciaram, descrevendo o papel do aluno e o que sentiram nesta situação. Resultados – Os resultados revelaram que em 61,7% dos casos se tratou de agressão física e 29,7% de agressão verbal. Desempenharam o papel de agressores 12,7% dos alunos, 21,8% foram vítimas e 63,6% foram testemunhas desta situação. 10,6% dos alunos relataram sentir bem, 11% mostraram indiferença e 78,4% dos alunos sentiram‑se mal com a situação de bullying. Verificou‑se que, com o avanço da idade, o estudante aumentava em 1,5 vezes a probabilidade de desempenhar o papel de agressor e os rapazes apresentavam 5,2 vezes mais probabilidades de vir a ser agressor numa situação de bullying. Conclusão – O presente estudo verificou que a maioria dos alunos participou de uma situação de bullying escolar como testemunha, sendo os casos mais comuns de agressão física. A maioria dos alunos sentiu‑se mal com essa situação. Os rapazes e os alunos com mais idade tiveram mais probabilidade de vir a desempenhar o papel de agressor numa situação de bullying.