BACKGROUND Kearns-Sayre syndrome (KSS) is a rare mitochondrial cytopathy, first described at Mayo Clinic in 1958. AIMS We aimed to define patient and disease characteristics in a large group of adult and pediatric patients with KSS. METHODS We retrospectively searched the Mayo Clinic medical index patient database for the records of patients with KSS between 1976 and 2009. The 35 patients i...

Unlike stereotypical neurotropic viruses, influenza A viruses have been detected in the brain tissues of human and animal models. To investigate the interaction between neurons and influenza A viruses, mouse cortical neurons were isolated, infected with human H1N1 influenza virus, and then examined for the production of various inflammatory molecules involved in immune response. We found that r...

BACKGROUND Fahr's disease is a rare neurodegenerative disorder of unknown cause characterized by idiopathic basal ganglia calcification that is associated with neuropsychiatric and cognitive impairment. No case of Fahr's disease with associated cardiac conduction disease has been described in the literature to date. The objective of this case report was to describe a young female with various c...

A most unusual inflammatory myopathy, called macrophagic myofasciitis, first described by the Groupe d'Etudes et Recherche sur les Maladies Musculaires Acquises et Dysimmunitaires (GERMMAD), a specific branch of the Association Française contre les Myopathies was recorded with an increasing frequency from 1993 in the main French myopathologic centers. In October 1999, 65 macrophagic myofasciiti...

oligoclonal bands were not found. DNA was extracted from a blood sample and analysed for mtDNA mutations using standard procedures and was negative at positions 3243, 8344, 8993, 3460, and 14484, but with a homoplasmic mutation at position 11778. Our patient had the mutation most often associated with MS-like CNS lesions and visual loss in women. Brain stem lesions have been previously describe...

Background: The lipodystrophic syndrome (LD) is a disorder resulting from selective damage of adipose tissue by antiretroviral drugs included in therapy controlling human-immunodeficiencyvirus-1. In the therapy cocktail the nucleoside reverse transcriptase inhibitors (NRTI) contribute to the development of this syndrome. Cellular target of NRTI was identified as the mitochondrial polymerase-gam...

Introduction. HIV-1 infection in cell culture is typically characterized by certain cytopathic effects such as vacuolization of cells and development syncytia, which further lead to death. In addition, the majority drugs during HIV treatment exhibit serious adverse patients, apart from their beneficial role. During screening cytoprotective agents protect HIV-1-associated death also drug-associa...