RESUMO
Familial Mediterranean fever (FMF) is the most common genetic autoinflammatory disease, but it has been considered a rare disease in Japan. We herein describe five patients with FMF who were diagnosed both clinically and genetically at a single Japanese institute. A genetic investigation of Mediterranean fever (MEFV) detected heterozygosity for the compound mutations L110P/E148Q (n=2) and L110P/148Q/P369S/R406Q (n=1), and heterozygosity for M694I (n=1) and S503C (n=1). Colchicine prevented febrile attacks and accompanying symptoms in four patients. One patient with an S503C mutation showed resistance. Physicians should be aware of the characteristic symptoms, as well as the more unusual symptoms such as headache, when diagnosing FMF.
Assuntos
Colchicina/uso terapêutico , Proteínas do Citoesqueleto/genética , Febre Familiar do Mediterrâneo/tratamento farmacológico , Febre Familiar do Mediterrâneo/genética , Pirina/genética , Doenças Raras/genética , Adulto , Povo Asiático , Febre Familiar do Mediterrâneo/complicações , Febre Familiar do Mediterrâneo/diagnóstico , Feminino , Heterozigoto , Humanos , Japão , Masculino , Pessoa de Meia-Idade , Mutação , Resultado do TratamentoRESUMO
INTRODUCTION: In 2011, Fukushima was struck by a triple disaster: an earthquake, tsunamis, and a nuclear accident. In the aftermath, there was much fear among hospital staff members about radiation exposure and many staff members failed to report to work. OBJECTIVES: One objective is to measure this shortage in hospital staff and another is to compare the difference in recovery by hospital types and by categories of hospital staff. DESIGN: The monthly records of the number of staff members from May 2011 to September 2012 were extracted anonymously from the records of 7 local hospitals in the Soso district in Fukushima. Change in the number of staff was analyzed. RESULTS: Staff shortages at hospitals reached a maximum within one month after the disaster (47% reported to work). The shortage of clerks was the most severe (38% reported to work), followed by nurses (48% reported to work). The shortages remained even 18 months after the disaster. CONCLUSION: After a disaster in which the damage to hospital functions surpasses the structural damage, massive support of human resources in the acute phase and a smaller volume of support in the mid-term phase appear to be required, particularly for non-medical staff.
