Temat: adrenoleukodystrophy

Skocz do pozycji: 1.

Tytuł:: Newest therapeutic options for adrenoleukodystrophy
Autorzy:: Gołębiowska, Maria
Gołębiowska, Beata
Beń-Skowronek, Iwona
Tematy:: X-ALD
adrenoleukodystrophy
gene therapy
neurodegenerative disorders; Pokaż więcej
Wydawca:: Przedsiębiorstwo Wydawnictw Naukowych Darwin / Scientific Publishing House DARWIN
Powiązania:: https://bibliotekanauki.pl/articles/1163988.pdf Link otwiera się w nowym oknie
Opis:: X-linked adrenoleukodystrophy is a genetic disease correlated with mutation of ATP-binding cassette, which results in errors of peroxisomal beta oxidation and accumulation of impaired very long chain fatty acids. This leads to degeneration of adrenal glands, spinal cord and myelin sheaths. Despite nearly 100 years of ALD history, the treatment is limited to few therapeutic options, mainly Lorenzo’s Oil and Hematopoetic stem cell transplant. Available therapy can only slow the progression of the disease in early stages. The aim of our study was to present the newest therapeutic options in X-ALD. Substantial articles on new treatment of X-ALD from period 2007-2018 in the Asian, European and American regions have been analyzed. Among 219 articles in PubMed Medline database related to therapy and treatment of X-ALD, 13 articles were selected for analysis, reviewed and divided into two main groups: cause-related treatment (11 articles) and symptoms-related treatment (2 articles). Within cause-related treatment, the usage of known medications such as eg. pioglitazone, natural phenols - resveratrol, gene therapy with adenoassociated virus serotype 9 or combined therapies (Hematopoetic Stem Cell Gene Therapy) have been reviewed. Symptoms related treatment attempted to reduce spasticity and secondary dystonia in X-ALD patients. Reviewed research presents progress in development of treatment options for X-ALD, however still in primary in vitro and animal tested stages. Secondary neurological symptoms medication is awaiting for better solutions for ALD patients, in order to improve their Quality of Life and allow symptomless course for a longer time.
Dostawca treści:: Biblioteka Nauki

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Tytuł:: Adrenomyeloneuropathy – a case report
Autorzy:: Leksa, Natalia
Aebisher, David
Galiniak, Sabina
Uberman-Kluz, Dominika
Bartosz, Serweryn
Bartusik-Aebisher, Dorota
Tematy:: adrenoleukodystrophy
fatty acids
steroid therapy; Pokaż więcej
Wydawca:: Uniwersytet Rzeszowski. Wydawnictwo Uniwersytetu Rzeszowskiego
Powiązania:: https://bibliotekanauki.pl/articles/454995.pdf Link otwiera się w nowym oknie
Opis:: Introduction. Adrenoleukodystrophy is a genetic disorder linked to the X chromosome, in which the peroxisomal beta-oxidation process is disturbed. It is a metabolic disease that results in the accumulation of very long chain fatty acids (VLCFAs - very long chain fatty acids) responsible for the symptoms of damage to the adrenal cortex, gonads and the brain. Aim. A clinical case is reported. Description of case. This article describes the case of a 64-year-old woman who had neurological symptoms for many years, gradually increasing without significant improvement after the treatment (periodic steroid therapy). Conclusion. Based on tests (including the determination of the ABCD1 gene and very long chain fatty acids - VLCFA), adrenoleukodystrophy was suspected.
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 3.

Tytuł:: The role of MR imaging in the assessment of clinical outcomes in children with X-linked adrenoleukodystrophy after allogeneic haematopoietic stem cell transplantation
Autorzy:: Owoc-Lempach, Joanna
Bladowska, Joanna
Kulej, Dominika
Porwolik, Julita
Stradomska, Teresa Joanna
Zimny, Anna
Kałwak, Krzysztof
Sąsiadek, Marek J.
Biel, Anna
Zaleska-Dorobisz, Urszula
Opis:: Background: The aim of the study was to analyse MR images of the brain, including advanced MR techniques, such as single voxel spectroscopy (MRS) and diffusion tensor imaging (DTI), in children with X-linked adrenoleukodystrophy (X-ALD) before and after haematopoietic stem cell transplantation (HSCT) and to establish the imaging criteria which may be helpful in the assessment of disease staging, qualification to HSCT and follow-up. Material and Methods: Seven boys, aged 5-10 years, (mean 8.14 years) with biochemically proved X-ALD, underwent plain MR imaging with a 1.5 T unit before and after HSCT. Structural images were analyzed using an MRI severity scale (Loes scale). In one patient the follow-up examinations included MRS with the assessment of metabolite ratios (NAA/Cr, Cho/Cr, mI/Cr), as well as DTI with evaluation of fractional anisotropy (FA) and apparent diffusion coefficient (ADC) in several white matter tracts. Results: Two boys had an MRI severity score before HSCT equal to <8 points, and after HSCT they showed no clinical or radiological progression. In 5 patients with a higher severity score (from 8 to 16 points, mean 10.9) before HSCT, clinical and radiological progression was observed (MRI severity score from 17 to 25 points, mean 20.9). Follow-up advanced MRI techniques in one boy showed metabolic alterations, as well as decreased FA and ADC values in all evaluated areas. Conclusions: Children at an early stage of X-ALD (below 8 points in MRI severity scale) are more likely to benefit from HSCT. DTI and MRS seem to be more useful imaging methods to assess the progression of X-ALD.
Dostawca treści:: Repozytorium Uniwersytetu Jagiellońskiego

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