Ochorenia myelínu CNS sa súhrnne označujú ako leukoencefalopatie. Termín zahŕňa poruchy, pri ktorých zmeny v bielej hmote prevažujú alebo sú výlučné, pričom patofyziologický mechanizmus ani histopatologická báza nie sú rozhodujúce. Z tejto širokej skupiny vrodených a získaných porúch sa vyčleňuje skupina leukodystrofií, ktorá označuje primárnu poruchu myelínu a buniek tvoriacich myelín. Klasicky sa do tejto skupiny radí šesť klinických jednotiek: X‑adrenoleukodystrofia, metachromatická leukodystrofia, Krabbeho globoidná leukodystrofia, Canavanovej choroba, Pelizaeus‑Merzbacherova choroba a Alexandrova choroba. Pribúdajúcimi poznatkami sa skupina rozširuje o stále nové primárne poruchy. Pre presnú diagnostiku je dôležitý klinický nález, významné sú zmeny na MR mozgu a laboratórne vyšetrenia. Precíznou analýzou MR obrazu je možné diagnostický proces urýchliť. Jedným zo spoločných znakov leukodystrofií je progresívny priebeh. U detí nastáva zväčša rýchla strata motorických a kognitívnych funkcií. V prípade adolescentov a adultných pacientov je ťažisko zmien v psychickej a mentálnej oblasti, pričom motorický deficit nastupuje neskôr. Priebeh X‑adrenoleukodystrofie, metachromatickej leukodystrofie, Krabbeho globoidnej leukodystrofie sa dá vo včasnom štádiu alebo predklinickom období ovplyvniť transplantáciou kostnej drene alebo kmeňových buniek. V prípade metachromatickej leukodystrofie je v skorých štádiách indikovaná génová a enzýmová terapia. Pre ostatné leukodystrofie je dostupná len symptomatická liečba. Cieľom práce je zhrnutie najdôležitejších poznatkov a liečebných možností., Myelin disorders of the central nervous system are also known as leukoencephalopathies. This term includes diseases, in which changes of the white matter are dominant, or even exclusive, while neither the pathophysiological mechanism nor the histopathological basis are decisive. This broad selection of inborn and acquired disorders includes a group of leukodystrophies characterized by primary dysfunction of myelin and myelin-producing cells. Typically, six separate clinical entities are included in this group: X-linked adrenoleukodystrophy, metachromatic leukodystrophy, Krabbe’s globoid cell leukodystrophy, Canavan disease, Pelizaeus-Merzbacher disease and Alexander disease. The group is constantly expanding as our knowledge develops. Clinical and laboratory findings, as well as MRI scans, are crucial for exact diagnosis. Accurate analysis of MRI images accelerates the diagnostic process considerably. A common feature of leukodystrophies is their progressive nature. Children exhibit rapid loss of motor and cognitive functions. In adolescent and adult patients, psychological and mental changes are the most prominent, while motor deficit has a later onset. The course of X-linked adrenoleukodystrophy, metachromatic leukodystrophy, and Krabbe’s leukodystrophy can be managed at the early or pre-clinical stages with bone marrow or stem cell transplantation. Gene and enzyme therapy are indicated at the earliest stages of metachromatic leukodystrophy. For the remaining leukodystrophies, only symptomatic therapy is available. The purpose of this paper is to summarize current information and knowledge as well as possible therapeutic options in this group of disorders., Vědomostní test, and M. Kolníková, P. Sýkora
The purpose of this study was to investigate the content neurospecific markers protein S-100 and neuroenolaza in blood serum and tear fluid of patients with ocular ischemic syndrome. Material and methods. We observed 43 patients aged 57 to 79 years, mean age 67.3 ± 2.7 years. Control group consisted of 11 volunteers without ophthalmic symptoms. The main group consisted of 32 patients with OIS. The neurospecific proteins S100 and NSE were investigated in blood serum and tear fluid. Results. The study found that in patients of the control group the content of protein were within the normal range: S -100 in the tear fluid – 0,0662 ± 0,00335 mkg/l, in the blood serum 0,0508 ± 0,00241 mkg/l. In patients of the main group the indicators of protein in the tear fluid were elevated in all patients - 3,12 ± 0,246 mkg/l ( p<0.005). The normal evels in blood serum of marker S-100 was in 30 patients - 0,0589 ± 0,00303 mkg/l, while, in 2 patients protein S-100 were raised and averaged 0,2175±0,00725 mkg/l. It was found that in patients of the control group content of protein NSE in the tear fluid and blood serum were within normal values - 15,86 ± 0,148 Ng/ml, 15,60 ± 0,202 Ng/ml respectively. In the main group the amount of protein NSE tended to increase in the tear fluid in 23 patients and averaged 33,012 ± 3,2626 Ng/ml (p<0.005), a significant decrease the quantity of protein was observed in 9 patients, which amounted to 5,166 ± 0,8301 Ng/ml. At normal levels in the blood serum protein NSE detected in 30 patients and averaged 14,48 ± 0,263 Ng/ml, whereas, in 2 patients there was a significant increase of content of protein NSE and was 27,47 ± 3,068 Ng/ml. Conclusions. Thus, changes in the concentration of S100 and neuroenolaza in the tear fluid in patients with ocular ischemic European Medical, Health and Pharmaceutical Journal ISSN 1804-5804 syndrome allow to identify as marker of nerve cells damage of the eye, contributing to the definition in conjunction with other signs of stage and etiology of the disease., Halidjan Kamilov, Munirahon Kasimova, Dilbar Makhkamova, and Literatura