ABSTRACT Compressive syndromes of peripheral nerves both in the upper and lower limbs are part of daily clinical practice; however, the etiological diagnosis can be challenging and impact on the outcome of the patient. We report five cases with rare etiologies of nerve entrapments: one in the lower limb and four in the upper limbs with the final diagnosis made only during the operation. The patients evolved without post-operative complications and had good outcomes. This series includes the first report of sciatic compression by a lipoma in the popliteal fossa, two lipomas one with compression of infraclavicular brachial plexus and another with compressing the posterior interosseous nerve, and two reports of vascular lesions due to blunt traumas, which are also uncommon. This series adds to the literature more hypotheses of differential diagnoses in nerve entrapments, which is fundamental to surgical decisions and pre-operative planning—and perhaps most importantly prevents wrong diagnosis of idiopathic compressions, which would lead to a completely wrong approach and unfavorable outcomes.

Aceruloplasminemia is a rare autosomal recessive disease in which a mutation leads to the absence or dysfunction of ceruloplasmin. Deficiency of this enzyme leads to the accumulation of iron in various organs; aceruloplasminemia is usually characterized by diabetes, retinal degeneration and neurological disorders. Diagnosis is suspected by the presence of elevated levels of ferritin, anemia, decreased serum copper and absence of ceruloplasmin in serum. Treatment of aceruloplasminemia is mainly based on the control of iron overload.

INTRODUÇÃO: A doença falciforme é a doença hereditária mais frequente no nosso país. O portador apresenta acometimentos físico, emocional e social, e sua qualidade de vida pode estar comprometida. OBJETIVO: Avaliar a qualidade de vida dos doentes falciformes em tratamento no Hospital das Clínicas da Universidade de Goiás. MÉTODO: Foram entrevistados 60 sujeitos entre 14 e 60 anos, doentes falciformes, em tratamento no Hospital das Clínicas. Aplicou-se o WHOQOL-Bref (instrumento avaliativo de qualidade de vida da Organização Mundial de Saúde - OMS), o questionário étnico-racial e o sociodemográfico. A significância foi definida por um erro padrão de 5% (p < 0,05). Os sujeitos eram do sexo feminino em 53,3% e solteiros em 71,7%. A média da idade foi de 27 anos e o nível educacional até o primeiro grau completo foi de 51,7%. RESULTADOS: A maioria considerou-se parda (46,7%) e a minoria, negra (11,7%). Apenas 6,7% disseram ser vítimas de preconceito devido à cor e 33,3% disseram ser vítimas de preconceito devido à doença. Os sujeitos relataram ligação entre doença e sua cor em 48,3%. A qualidade de vida foi avaliada negativa em 6,7% e, em 70%, positiva. Apresentaram satisfação negativa quanto à saúde 23,3% dos sujeitos e, em 48,3%, a satisfação foi positiva. Os escores do WHOQOL-Bref, de 0 a 100 foram: domínio físico (57,32), psicológico (66,03), social (69,86) e ambiental (52,76). CONCLUSÃO: Houve correlação significativa entre preconceito devido à doença e nível educacional, e entre idade e todos os domínios. A doença falciforme limita a vida do portador, com comprometimento da qualidade de vida. A doença está perdendo o caráter de "black related disease", coincidindo com a miscigenação racial brasileira.

INTRODUCTION: Sickle cell disease is the most common inherited disease in Brazil. Patients are known to suffer physical, emotional and social impairment and their quality of life may well be involved. METHOD: The quality of life of sickle cell disease patients treated in Hospital das Clínicas of the Universidade Federal de Goiás was evaluated. Sixty patients with ages ranging from 14 to 60 years old were interviewed. The WHOQOL-Bref (a quality of life validation instrument of the World Health Organization), and the ethnical-racial, and sociodemographic questionnaires were administered. A standard error of 5% (p-value < 0.05) was considered acceptable. RESULTS: The mean age of the participants was 27 years old, 53.3% of the patients were women, 71.7% were single and 51.7% had completed elementary school. The majority classified themselves as mulattos (46.7%) and the minority Blacks (11.7%). Only 6.7% considered themselves victims of racial discrimination because of their skin color but 33.3% considered themselves victims of discrimination due to sickle cell disease. The patients 48.3% reported an association between their disease and their skin color. The quality of life was considered bad by 6.7% and good by 70%. A total of 48.3% considered their lives to be satisfactory and 23.3% to be unsatisfactory. The scores obtained from the WHOQOL-Bref (from 0 to 100) were: 57.32 for physical, 66.03 for psychological, 69.86 for social and 52.76 for environmental domains. There were significant correlations of discrimination due to the disease with educational level and age with all the WHOQOL-Bref domains. CONCLUSION: Sickle cell disease significantly limits the quality of life of patients. Also, sickle cell disease, coinciding with the racial miscegenation, is losing its "black-related disease" character in Brazil.