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Emilia Manole

Latest posts by Emilia Manole (see all)

  • THE SPECTRUM OF CONGENITAL MYOPATHIES IN ROMANIA – A PATHOLOGICAL RETROSPECTIVE STUDY - 21/01/2016
  • DYNAMICS OF ENDOTHELIN LEVELS IN MUSCLE REGENERATION AFTER MECHANICAL TRAUMA - 19/11/2015

Articles signed on Romanian Journal of NEUROLOGY:

THE SPECTRUM OF CONGENITAL MYOPATHIES IN ROMANIA – A PATHOLOGICAL RETROSPECTIVE STUDY

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Romanian Journal of Neurology, Volume XIV, No. 4, 2015
ISSN 1843-8148  |  e-ISSN 2069-6094
ISSN-L 1843-8148
DOI: 10.37897/RJN

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THE SPECTRUM OF CONGENITAL MYOPATHIES IN ROMANIA – A PATHOLOGICAL RETROSPECTIVE STUDY

Alexandra Eugenia Bastian, Vlad Mageriu and Emilia Manole

ABSTRACT

Objectives. Congenital myopathies (CM) are a highly heterogeneous group of disorders with genetic cause, characterized by motor deficit and weakness usually manifesting in the neonatal period, with slowly progressive or non-progressive course and affecting both sexes. MC classification has undergone many changes over time, and in recent years molecular genetic studies have enabled identification of novel genes and mutations, thus increasing the diagnostic complexity. We wanted to study the incidence and morphological features of the CM cases diagnosed by muscle biopsy in the Pathology Department of Colentina University Hospital over a period of 10 years (09.2005- 09.2015). 
Materials and methods. We retrospectively reviewed all the muscle biopsies diagnosed with different types of CM. Muscle biopsies were performed and specifically processed using routine and special stains on cryosections, semithin and ultrathin sections for ultrastructural examination. In all the cases we reassessed the clinical and laboratory data. 
Results. From a number of 1,530 peripheral nerve and muscle biopsies performed and analyzed in the 10 years period we diagnosed CM in 15 cases, representing 1.03% of the total. Of these, five were “central core myopathies”, five centronuclear/myotubular myopathies, one case of nemaline myopathy, one case of “reducing body myopathy” and three cases with congenital fiber type disproportion. Reassessment of morphological data in the clinical context allowed us to identify numerous overlaps between subtypes both in the clinical and pathological picture 
Conclusions. The reduced number of MC identified in our country suggests that these diseases are probably underdiagnosed or diagnosed late, requiring a better understanding of the various clinical and pathological particularities. In the accurate diagnostic algorithm, muscle biopsy remains essential to establish the type of CM and thus to direct genetic tests.

Keywords: congenital myopathies, central cores, multiminicores, nemaline rods, centronuclear myopathy

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DYNAMICS OF ENDOTHELIN LEVELS IN MUSCLE REGENERATION AFTER MECHANICAL TRAUMA

SELECT ISSUE

Romanian Journal of Neurology, Volume XIV, No. 3, 2015
ISSN 1843-8148  |  e-ISSN 2069-6094
ISSN-L 1843-8148
DOI: 10.37897/RJN

Indexed

DOI - Crossref
Similarity Check by iThenticate, worldwide No 1 professional plagiarism checking system
DOAJ
Scopus
NLM Catalog
Ebsco Host - Medline
Google Academic
Semantic Scholar

HIGHLIGHTS

ICMJE- Recommendations

Read the Recommendations for the Conduct, Reporting, Editing, and Publication of Scholarly work in Medical Journals.

Promoting Global Health

The published medical research literature is a global public good. Medical journal editors have a social responsibility to promote global health by publishing, whenever possible, research that furthers health worldwide.

DYNAMICS OF ENDOTHELIN LEVELS IN MUSCLE REGENERATION AFTER MECHANICAL TRAUMA

Laura Cristina Ceafalan, Emilia Manole, Cristiana Pistol Tanase, Elena Codrici, Simona Mihai and Bogdan O. Popescu

ABSTRACT

Objectives. Muscle regeneration after trauma is a complex phenomenon involving several cellular processes, such as angiogenesis, inflammation, fibrosis, activation of satellite cells and their differentiation into myocytes and myotubes. Although many studies explored these mechanisms in the last years, there is still an unmet need to find new therapy targets, especially regarding some cellular molecules involved in muscular recovery after mechanical or pathological injury. In the present study we investigated the dynamics of endothelin-1 (ET-1), an important factor that has been shown to be involved in all stages of tissue regeneration, but which is poorly investigated in skeletal muscle.
Materials and methods. We used an experimental animal model of acute mechanical trauma on mouse gastrocnemius muscle. ET-1 levels were investigated at different time-points after muscle injury by in situ immunofluorescence, xMAP assay on tissue and serum samples, and Western Blot analysis.
Results. By xMAP assay, tissue ET-1 levels increased significantly up to the 5th day after trauma, correlated with serum levels. xMAP assay was confirmed by Western blot analysis which showed a significant increase in the level of ET-1 towards the end of the first week after trauma. This corresponds with the inflammatory stage of the regeneration process, followed by angiogenesis and satellite cell activation. In situ immunostaining showed a multiplication of interstitial cells expressing ET-1 in the first week after muscle injury. Two cellular subtypes were detected in the connective tissue – one is represented by blood-derived CD45 positive cells and the other by local interstitial cells. Such cells were detected in all connective tissue compartments, in close association with CD56 positive satellite cells, myoblasts and myotubes and most of them co-express sca-1.
Conclusions. The present study demonstrated that ET-1 is synthesized mostly by mesenchymal progenitors and their number greatly increases after mechanical trauma in muscle interstitium. Based on ET-1 expression and their close association with activated satellite cells, such cells could have a paracrine influence not only over angiogenesis but also over fiber regeneration. ET-1 appears as an important molecule working in conjunction with other various signalling pathways especially during first stages of the regeneration process after acute mechanical injury. ET-1 and its receptors could become therapeutic targets, especially for inflammatory myopathies and muscular dystrophies with significant pathological fibrosis.

Keywords: endothelin, skeletal muscle mechanical trauma, muscle regeneration, angiogenesis, inflammation, satellite cells, fibrosis

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