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1.
Indian J Pathol Microbiol ; 66(3): 611-613, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37530352

RESUMO

Allergic fungal rhinosinusitis (AFRS) forms a significant group of patients presenting with the commonest health problem encountered in rhinology. Patients commonly present with typical symptoms of sinusitis, and the diagnosis is often made after imaging and/or intraoperatively. Infections caused by Chrysosporium species are very rare and are very rarely been reported to cause sinusitis in humans. Usually, human chrysosporial infections are mild and unmarked by symptoms. We report a rare case of allergic fungal sinusitis (AFS) caused by Chrysosporium species in a 41-year-old male with the history of diabetes mellitus.


Assuntos
Sinusite Fúngica Alérgica , Chrysosporium , Micoses , Sinusite , Masculino , Humanos , Adulto , Micoses/diagnóstico , Micoses/microbiologia , Sinusite/diagnóstico , Sinusite/microbiologia
2.
Epileptic Disord ; 20(3): 214-218, 2018 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-29897043

RESUMO

We describe a 10-month-old boy with early-onset epileptic encephalopathy who was found to have a hemizygous deletion in 9q33.3-q34.11 involving STXBP1 and SPTAN1 genes. He presented at the age of 2.5 months with frequent upper extremity myoclonus, hypotonia, and facial dysmorphisms. Interictal EEG showed multifocal polyspike and wave during wakefulness and sleep. Ictal EEG revealed low-amplitude generalized sharp slow activity, followed by diffuse attenuation. Metabolic testing was unrevealing. Brain MRI showed thinning of the corpus callosum with an absence of rostrum. This patient is the second reported case with 9q33.3-q34.11 deletion involving STXBP1 and SPTAN1 genes associated with epileptic encephalopathy and myoclonic seizures. Larger case series are needed to better delineate this association.


Assuntos
Proteínas de Transporte/genética , Epilepsias Mioclônicas/genética , Proteínas dos Microfilamentos/genética , Proteínas Munc18/genética , Espasmos Infantis/genética , Encéfalo/diagnóstico por imagem , Encéfalo/fisiopatologia , Deleção Cromossômica , Eletroencefalografia , Epilepsias Mioclônicas/diagnóstico por imagem , Epilepsias Mioclônicas/fisiopatologia , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Espasmos Infantis/diagnóstico por imagem , Espasmos Infantis/fisiopatologia
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