Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 4 de 4
Filtrar
Mais filtros








Base de dados
Intervalo de ano de publicação
1.
Cureus ; 15(8): e44448, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37791164

RESUMO

A 63-year-old Japanese woman presented to the emergency room with a fever and altered mental status. She was diagnosed as acute cholangitis and coronavirus disease 2019 (COVID-19). On the second day, her consciousness level deteriorated. The patient was finally diagnosed with acute necrotizing encephalopathy (ANE). This case illustrated ANE caused by COVID-19 that co-occurred with acute cholangitis. ANE is a subtype of acute encephalitis/encephalopathy, sometimes related to COVID-19. ANE shares some clinical features with acute cholangitis. COVID-19 and bacterial infections may coexist, thus complicating an accurate diagnosis. Physicians should avoid overlooking life-threatening febrile conditions even if the diagnosis of COVID-19 is confirmed.

2.
J Gen Fam Med ; 21(3): 92-93, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32489765

RESUMO

We, Team SAIL, held the workshop at WONCA APR Conference 2019 for presenting the concept of Social Vital Signs (SVS) to an international audience.

3.
J Gen Fam Med ; 20(4): 164-165, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31312586

RESUMO

We, Team SAIL, have held sessions introducing social vital signs (SVS). SVS is a useful tool for evaluating patient's social determinants of health (SDH).

4.
Rheumatol Int ; 38(1): 105-110, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29151129

RESUMO

Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by mutations in the MEFV gene and characterized by recurrent episodes of fever and polyserositis. To date, over 317 MEFV mutations have been reported, only nine of which account for almost all Japanese patients with FMF. Therefore, the prevalence of rare MEFV variants and their clinical characteristics remains unclear. This study identified MEFV mutations previously unreported in the Japanese population and described their clinical features. We performed MEFV genetic testing in 488 Japanese patients with clinically suspected FMF. Of these patients, we retrospectively analyzed three patients with novel or very uncommon MEFV mutations. In all patients, the clinical diagnosis of FMF was made according to Tel-Hashomer's criteria. One novel missense mutation (N679H) and two rare mutations (T681I and R410H) were identified in the MEFV gene. These mutations were found in compound heterozygous or complex genotypes with other known mutations in exons 1 or 2. According to clinical images, all three patients exhibited typical FMF symptoms. A number of patients with FMF caused by novel or uncommon MEFV variants might exist in the Japanese population; therefore, careful genetic testing is required for accurate diagnosis of this curable genetic disorder.


Assuntos
Febre Familiar do Mediterrâneo/diagnóstico , Febre Familiar do Mediterrâneo/genética , Mutação , Pirina/genética , Adulto , Análise Mutacional de DNA , Feminino , Frequência do Gene , Genótipo , Humanos , Japão , Pessoa de Meia-Idade
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA