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Octavian-Mihai Sirbu

Latest posts by Octavian-Mihai Sirbu (see all)

Articles signed on Romanian Journal of NEUROLOGY:

FROM PATHOPHYSIOLOGY TO MOLECULAR DIAGNOSIS IN SUDDEN UNEXPECTED DEATH IN EPILEPSY

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Romanian Journal of Neurology, Volume XV, No. 2, 2016
ISSN 1843-8148  |  e-ISSN 2069-6094
ISSN-L 1843-8148
DOI: 10.37897/RJN

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FROM PATHOPHYSIOLOGY TO MOLECULAR DIAGNOSIS IN SUDDEN UNEXPECTED DEATH IN EPILEPSY

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ABSTRACT

Sudden unexpected death in epilepsy (SUDEP), an undesirable event with a relatively small prevalence, often unrecognized and underdiagnosed, is currently at the center of international medical and social events, with the specific purpose of awareness raising campaign. Although many general risk factors for SUDEP have been identified, the development of reliable patient-specific biomarkers is needed to provide more accurate risk prediction and personalized patient management strategies. The new different genes mutations described in animals and humans, make them valuable genomic biomarkers. In this paper the authors analyze aspects of SUDEP pathogenesis and diagnosis from the perspective of both the current molecular research and the new diagnostic criteria proposed by Nashef et al. in 2012. The authors conclude that in the genomic era we shall be able to optimize and individualize patient management, focusing in the same time on prevention.

Keywords: SUDEP, epilepsy, pathogenicity, genetic biomarkers, personalized medicine, prevention

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CHRONIC PROGRESSIVE EXTERNAL OPHTALMOPLEGIA (CPEO) – CASE PRESENTATION

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Romanian Journal of Neurology, Volume XIII, No. 3, 2014
ISSN 1843-8148  |  e-ISSN 2069-6094
ISSN-L 1843-8148
DOI: 10.37897/RJN

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CHRONIC PROGRESSIVE EXTERNAL OPHTALMOPLEGIA (CPEO) – CASE PRESENTATION

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ABSTRACT

We present the case of a patient aged 38 years with Cronic Progressive External Ophtalmoplegia (CPEO), a slowly progressive myopathy primarily involving and often limited to the extraocular muscles. Medical history, clinical examination and laboratory studies are revealed. The implicated gene mutations and differential diagnosis are approached.

Keywords: cronic Progressive External Ophtalmoplegia, mitochondrial DNA, Kearns-Sayre syndrome

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CAN WE REALLY PREVENT ALZHEIMER’S DISEASE?

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Romanian Journal of Neurology, Volume XIV, No. 1, 2015
ISSN 1843-8148  |  e-ISSN 2069-6094
ISSN-L 1843-8148
DOI: 10.37897/RJN

Indexată BDI  |  IDB Indexed

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CAN WE REALLY PREVENT ALZHEIMER’S DISEASE?

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ABSTRACT

Alzheimer’s disease, a neurodegenerative disorder that affects mainly the elderly people, was declared a public health priority by the World Health Organization. Because the main clinical manifestations are cognitive, behavioral and psychological symptoms, patients diagnosed with this disease have a significantly lower quality of life. This type of dementia has an inexorably progressive evolution so, families and health care staff, must make great efforts to provide a decent standard of living for these patients. Because it has a huge economic burden and there is no treatment to stop or cure the disease, it is important to emphasises modifiable risk factors and to apply prevention strategies, proved by scientific evidence.

Keywords: Alzheimer’s, disease, dementia, prevention strategies

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