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4.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wpr-39634

RESUMO

BACKGROUND: Multiple endocrine neoplasia type 1 (MEN1) is a rare inherited disorder characterized by the simultaneous occurrence of endocrine tumors in target tissues (mainly the pituitary, endocrine pancreas, and parathyroid glands). MEN1 is caused by mutations in the MEN1 gene, which functions as a tumor suppressor and consists of one untranslated exon and nine exons encoding the menin protein. This condition is usually suspected when we encounter patients diagnosed with tumors in multiple endocrine organs, as mentioned above. METHODS: A 65-year-old woman who underwent surgery for a pancreatic tumor (serous cystadenoma) 5 years previously was referred to our hospital due to neurologic symptoms of diplopia and left ptosis. Brain magnetic resonance imaging revealed a 3.4-cm lesion originating from the cavernous sinus wall and extending into the sellar region. It was thought to be a nonfunctioning tumor from the results of the combined pituitary function test. Incidentally, we found that she also had a pancreatic tumor, indicating the necessity of genetic analysis for MEN1. RESULTS: Genomic analysis using peripheral leukocytes revealed a heterozygous c.1621G>A mutation in the MEN1 gene that was previously reported to be either a pathogenic mutation or a simple polymorphism. We pursued a stereotactic approach to the pituitary lesion, and microscopic findings of the tumor revealed it to be an intrasellar cavernous hemangioma, a rare finding in the sellar region and even rarer in relation to oculomotor palsy. The patient recovered well from surgery, but refused further evaluation for the pancreatic lesion. CONCLUSION: There is great emphasis placed on genetic testing in the diagnosis of MEN1, but herein we report a case where it did not assist in diagnosis, hence, further discussion on the role of genetic testing in this disease is needed. Also, in cases of pituitary tumor with cranial nerve palsy, despite its low prevalence, intrasellar cavernous hemangioma could be suspected.


Assuntos
Idoso , Feminino , Humanos , Encéfalo , Seio Cavernoso , Doenças dos Nervos Cranianos , Diagnóstico , Erros de Diagnóstico , Diplopia , Éxons , Testes Genéticos , Hemangioma Cavernoso , Ilhotas Pancreáticas , Leucócitos , Imageamento por Ressonância Magnética , Neoplasia Endócrina Múltipla Tipo 1 , Manifestações Neurológicas , Paralisia , Testes de Função Hipofisária , Neoplasias Hipofisárias , Prevalência
5.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wpr-180761

RESUMO

Nocardia cerebral abscess is rare, constituting approximately 1-2% of all cerebral abscesses. Mortality for a cerebral abscess of Nocardia is three times higher than that of other bacterial cerebral abscesses, therefore, early diagnosis and therapy is important. Nocardia cerebral abscess is generally occur among immunocompromised patients, and critical infection in immunocompetent patients is extremely rare. We report on a case of a brain abscess by Nocardia farcinica in an immunocompetent patient who received treatment with surgery and antibiotics. This is the second case of a brain abscess caused by N. farcinica in an immunocompetent patient in Korea.


Assuntos
Humanos , Antibacterianos , Abscesso Encefálico , Encéfalo , Diagnóstico Precoce , Imunocompetência , Hospedeiro Imunocomprometido , Coreia (Geográfico) , Mortalidade , Nocardiose , Nocardia
6.
Infection and Chemotherapy ; : 441-445, 2013.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wpr-62684

RESUMO

Pyogenic sacroiliitis is a rare osteoarticular infection, occurring most frequently in children and young adults. Diagnosis of the disease is challenging because of a general lack of awareness of the disease and its nonspecific signs and symptoms. Staphylococcus aureus is the most common causative bacteria in pyogenic sacroiliitis. Methicillin-resistant S. aureus (MRSA) has typically been considered a hospital-associated pathogen; however, community-acquired (CA)-MRSA infections are becoming increasingly common in Korea. We report the first domestic case of acute pyogenic sacroiliitis with abscess and bacteremia caused by CA-MRSA. The pathogen carried the type IV-A staphylococcal cassette chromosome mec (SCCmec) without the Panton-Valentine leukocidin (PVL) gene, and was identified as sequence type (ST) 72 by multilocus sequence typing.


Assuntos
Criança , Humanos , Adulto Jovem , Abscesso , Bacteriemia , Bactérias , Infecções Comunitárias Adquiridas , Diagnóstico , Coreia (Geográfico) , Leucocidinas , Resistência a Meticilina , Staphylococcus aureus Resistente à Meticilina , Tipagem de Sequências Multilocus , Sacroileíte , Staphylococcus aureus
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