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Wyświetlanie 1-14 z 14
Tytuł:
Expert system, as component of diagnostics system of mans sight
Ehkspertnaja sistema, kak sostavlajushhaja sistemy diagnostiki zrenijacheloveka
Autorzy:
Panteleev, G.
Ramazanov, S.
Krivosheev, K.
Powiązania:
https://bibliotekanauki.pl/articles/792867.pdf
Data publikacji:
2013
Wydawca:
Komisja Motoryzacji i Energetyki Rolnictwa
Tematy:
computer diagnostics
information system
valuation method
expert system
vision
man
dystrophy
retinal dystrophy
diagnostic system
Źródło:
Teka Komisji Motoryzacji i Energetyki Rolnictwa; 2013, 13, 3
1641-7739
Pojawia się w:
Teka Komisji Motoryzacji i Energetyki Rolnictwa
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
When a large refractive error is found in children, should we immediately order electroretinography?
Autorzy:
Zabochnicki, Mateusz
Pojda-Wilczek, Dorota
Powiązania:
https://bibliotekanauki.pl/articles/4176923.pdf
Data publikacji:
2023-03-31
Wydawca:
Medical Education
Tematy:
refractive error
electroretinography
pediatric ophthalmology
retinal dystrophy
Opis:
Electroretinography is a useful tool used in diagnosing retinal disorders. Refractive errors are a common and increasing group of abnormalities, which, if undiagnosed, may lead to complications. Physiologically, i.e., refraction of the child’s eye, evolves from myopic or hyperopic after birth, towards emmetropic. However, high refractive errors tend to present with retinal diseases. Early electroretinography is a great diagnostic test that allows its detection. Because of that, it can help avoid loss of eyesight and prevent future implications. Unfortunately, low accessibility and interpretational difficulties are main barriers in wider implementation of that method.
Źródło:
OphthaTherapy; 2023, 10, 1; 24-33
2353-7175
2543-9987
Pojawia się w:
OphthaTherapy
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Sub-cellular elemental imaging of human muscle tissues affected by neuromuscular diseases
Autorzy:
Śliż-Szpytna, Patrycja
Lankosz, Marek
Dudała, Joanna
Adamek, Dariusz
Radwanska, Edyta
Kwinta, Borys
Jakšić, Milko
Božičević Mihalić, Iva
Provatas, Georgios
Powiązania:
https://bibliotekanauki.pl/articles/2055672.pdf
Data publikacji:
2021
Wydawca:
Instytut Chemii i Techniki Jądrowej
Tematy:
dystrophy
elemental analysis
myopathy
neurodegenerative diseases
PIXE
Opis:
Various types of neuromuscular diseases differ in symptoms, pathology, and clinical picture but one of their common elements is muscle weakness, which could lead to human motor activities impairment and in many cases to shortening of life span and even death due to respiratory failure. That is why it is very important to better understand the underlying causes of these diseases to be able to implement new methods of treatment more effectively. This paper presents the results of the elemental analysis of human muscular tissues affected by dystrophy and myopathy. For this purpose, the particle-induced X-ray emission method was used, which is perfectly suited for measuring light elements. The samples were analysed for differences in the elemental composition of Na, Mg, P, S, Cl, K, Fe, Zn, and Br. The results were presented in the form of elemental concentration maps and a thorough statistical analysis of the obtained data using the advanced statistical methods.
Źródło:
Nukleonika; 2021, 66, 4; 159--164
0029-5922
1508-5791
Pojawia się w:
Nukleonika
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Duchenne muscular dystrophy: overview and future challenges
Dystrofia mięśniowa Duchenne’a: przegląd literatury i wyzwania w przyszłości
Autorzy:
Machfoed, Moh Hasan
Besin, Valentinus
Basuki, Mudjiani
Lasmono, Shirley Ferlina
Powiązania:
https://bibliotekanauki.pl/articles/1029871.pdf
Data publikacji:
2017
Wydawca:
Medical Communications
Tematy:
Duchenne muscular dystrophy
genetic engineering
stem cells
therapy
Opis:
Duchenne muscular dystrophy is a muscle disease caused by mutation in the gene that encodes the cytoskeletal protein dystrophin. It is inherited in an X-linked recessive fashion. A number of therapies are continuously being developed to slow down the progression of the disease and increase patients’ life expectancy. Steroid use in Duchenne muscular dystrophy is associated with a lower mortality rate (hazard ratio = 0.24; 95% CI = 0.07–0.91; p = 0.0351). Although recent studies have concluded that prolonged steroid use is associated with short stature and overweight, a meta-analysis of 12 studies has shown that steroids can increase strength, muscle function, and quality of life. Restoration of dystrophin gene expression is the basis of genetically engineered therapies. Potential therapies of this type include exon skipping, the use of recombinant adenoassociated virus which delivers mini-dystrophin, and surrogate gene transfer. In their development, the common challenges are associated with the size of gene product and the origin of dystrophin gene expression. Stem cells are promising for future therapy. Regardless of the challenges and controversies associated with stem cells, several clinical trials show an increase of  muscle strength in patients who have received such therapies.
Dystrofia mięśniowa Duchenne’a jest chorobą dziedziczoną w sposób recesywny, sprzężoną z chromosomem X, spowodowaną mutacjami w genie DMD kodującym białko dystrofinę. Obecnie opracowywane terapie mają na celu spowolnienie progresji choroby oraz przedłużenie przeżycia pacjentów. Leczenie z użyciem kortykosteroidów wiąże się z mniejszym ryzykiem zgonu (współczynnik ryzyka = 0,24; 95% CI = 0,07–0,91; p = 0,0351). Choć ostatnio prowadzone badania wykazały, że długotrwałe stosowanie kortykosteroidów przyczynia się do niskiego wzrostu i nadwagi, w metaanalizie 12 badań stwierdzono ich wpływ na zwiększenie siły mięśni, poprawę ich funkcji i lepszą jakość życia chorych. Odzyskanie ekspresji genu dystrofiny stanowi podstawę terapii genowych, w  tym metody pomijania zmutowanego egzonu (tzw. exon skipping), zastosowania rekombinowanych wirusów związanych z adenowirusami w celu wprowadzenia minidystrofiny oraz wymiany genu (gene transfer). Trudności związane z terapiami genowymi wiążą się z rozmiarem genu oraz pochodzeniem ekspresji dystrofiny. Inną obiecującą terapię stanowią komórki macierzyste. Bez względu na trudności i kontrowersje związane z leczeniem tego typu kilka badań klinicznych wykazało, że poprawia ono siłę mięśniową u osób z chorobą Duchenne’a.
Źródło:
Aktualności Neurologiczne; 2017, 17, 3; 144-149
1641-9227
2451-0696
Pojawia się w:
Aktualności Neurologiczne
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Granulocyte colony-stimulating factor therapy for facioscapulohumeral dystrophy: a case report
Autorzy:
Sienkiewicz, D.
Kułak, W.
Okurowska-Zawada, B.
Paszko-Patej, G.
Wojtkowski, J.
Dmitruk, E.
Okulczyk, K.
Sochoń, K.
Kalinowska, A.
Żak, J.
Pogorzelski, R.
Powiązania:
https://bibliotekanauki.pl/articles/1918329.pdf
Data publikacji:
2016
Wydawca:
Uniwersytet Medyczny w Białymstoku
Tematy:
Facioscapulohumeral dystrophy
granulocyte colony-stimulating factor
muscle strength
Opis:
We examined the safety and effectiveness of a low dose of analog granulocyte-colony stimulating factor in a 15-year-old boy with facioscapulohumeral dystrophy. The onset of disease was noted at 12 years of age. The physical examination noted general muscle atrophy more pronounced at left side of the body. He was able to walk 300 meters within 6 minute walk test. Granulocyte colony-stimulating factor 5 μg/kg was given subcutaneously daily for 5 days/month for 1, 2, 3, 6 and 12 months. Clinical examination, laboratory tests including blood, biochemical tests, and CD34+ cells were performed. A significant increase of muscle strength in the lower and upper limbs between baseline, and after 3 months of treatment, after 6, and after 12 months was found. He was able to walk 480 meters within 6 minutes after 12 months. Electromyography demonstrated increase of amplitude in the examined in upper and lower limbs after six months compared to baseline. Leukocyte levels remained below 25000/μL. CD34+ increased significantly at day 5 of granulocyte colony-stimulating factor admini-stration. It was safe and well tolerated by the patient. A significant increase in muscle strength in this patient with facioscapulohumeral dystrophy after 3 months of treatment, after 6, and after 12 months since the first treatment course was completed may indicate beneficial effects of granulocyte colony-stimulating factor in this disorder.
Źródło:
Progress in Health Sciences; 2016, 6(2); 175-177
2083-1617
Pojawia się w:
Progress in Health Sciences
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Matrix metalloproteinases in serum of Emery-Dreifuss muscular dystrophy patients
Autorzy:
Niebroj-Dobosz, Irena
Madej-Pilarczyk, Agnieszka
Marchel, Michał
Sokołowska, Beata
Hausmanowa-Petrusewicz, Irena
Powiązania:
https://bibliotekanauki.pl/articles/1040496.pdf
Data publikacji:
2009
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
Emery-Dreifuss muscular dystrophy
dilated cardiomyopathy
matrix metalloproteinases
Opis:
In the pathogenesis of dilated cardiomyopathy (DCM) in Emery-Dreifuss muscular dystrophy (EDMD) matrix metalloproteinases (MMPs) are supposed to be involved and may have diagnostic/prognostic value. Serum levels of MT1-MMP, MMP-2 and MMP-9 were quantified by ELISA and zymography in 22 EDMD patients and 15 age-matched controls. In the autosomal-dominant EDMD MMP-2 and MT1-MMP were increased in all cases, and MMP-9 was increased in two of the eight examined patients. In the X-linked EDMD MMP-2 expression was increased in all the cases, MMP-9 level was elevated in 3 of the 14 cases, and MT1-MMP was decreased in eight of these patients. There was no evident correlation between the MMPs level and the different cardiac parameters including left-ventricular end-diastolic diameter, left atrial diameter and left ventricular ejection fraction in either form of EDMD. The presented results indicate that a changed level of matrix metalloproteinases, especially that of MMP-2 in serum, may be of value for detection of cardiac involvement in EDMD patients, especially in those patients with no evident subjective cardiac symptoms. Further follow-up studies of MMPs are needed to check if their determination is of value for monitoring of the progression of atrial/ventricular dilatation. MMPs determinations may also be useful for monitoring DCM treatment by synthetic MMPs inhibitors.
Źródło:
Acta Biochimica Polonica; 2009, 56, 4; 717-722
0001-527X
Pojawia się w:
Acta Biochimica Polonica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Professional activity of Emery-Dreifuss muscular dystrophy patients in Poland
Autorzy:
Madej-Pilarczyk, Agnieszka
Powiązania:
https://bibliotekanauki.pl/articles/2178836.pdf
Data publikacji:
2014-05-17
Wydawca:
Instytut Medycyny Pracy im. prof. dra Jerzego Nofera w Łodzi
Tematy:
professional activity
employment
laminopathies
Emery-Dreifuss muscular dystrophy
Opis:
Objectives: Emery-Dreifuss muscular dystrophy (EDMD) is a very rare genetic disorder affecting skeletal and heart muscles. The aim of this study was to identify factors which might influence the ability to work in EDMD patients in Poland. Material and Methods: The study included 24 patients suffering from either of the two EDMD forms: 17 with emerinopathy (EDMD1; EDMD caused by mutations in the emerin gene) and 7 with laminopathy (EDMD2; EDMD caused by the lamin A/C gene mutations). After clinical evaluation of EDMD course, study participants were questioned about their education, current and former employment, and disability certificates and pensions. Results: 54% of the study participants were employed, and 90% of them had job position corresponding to their education. Undertaking work did not correlate with the level of physical performance or disease complication, but it revealed statistically significant correlation with a higher level of education (p = 0.015). Only 23% of professionally active patients were employed in a sheltered workplace. Disability certificate was granted to all EDMD2 and to 90% of EDMD1 patients. All EDMD2 and 50% of EDMD1 patients received a disability pension, which reflects more severe course of EDMD2. Conclusions: Higher level of education increased the chance of employment, even if significant disability was present. Therefore, I hypothesize that advice on education and jobcounseling should be applied as early as possible after the diagnosis of EDMD.
Źródło:
International Journal of Occupational Medicine and Environmental Health; 2014, 27, 2; 270-277
1232-1087
1896-494X
Pojawia się w:
International Journal of Occupational Medicine and Environmental Health
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Expression of ADAMTS-7 in myocardial dystrophy associated with white muscle disease in lambs
Autorzy:
Yumusak, N.
Yigin, A.
Polat, P.F.
Hitit, M.
Yilmaz, R.
Powiązania:
https://bibliotekanauki.pl/articles/2087770.pdf
Data publikacji:
2018
Wydawca:
Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:
ADAMTS-7
myocardial dystrophy
lamb
white muscle disease
Źródło:
Polish Journal of Veterinary Sciences; 2018, 21, 1; 119-126
1505-1773
Pojawia się w:
Polish Journal of Veterinary Sciences
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
The involvement of oxidative stress in determining the severity and progress of pathological processes in dystrophin-deficient muscles.
Autorzy:
Niebrój-Dobosz, Irena
Hausmanowa-Petrusewicz, Irena
Powiązania:
https://bibliotekanauki.pl/articles/1041426.pdf
Data publikacji:
2005
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
oxidative damage to macromolecules
Duchenne's muscular dystrophy
oxidative stress
Opis:
In both forms of muscular dystrophy, the severe Duchenne’s muscular dystrophy (DMD) with lifespan shortened to about 20 years and the milder Becker dystrophy (BDM) with normal lifespan, the gene defect is located at chromosome locus Xp21. The location is the same in the experimental model of DMD in the mdx mice. As the result of the gene defect a protein called dystrophin is either not synthesized, or is produced in traces. Although the structure of this protein is rather well established there are still many controversies about the dystrophin function. The most accepted suggestion supposes that it stabilizes sarcolemma in the course of the contraction-relaxation cycle. Solving the problem of dystrophin function is a prerequisite for introduction of an effective therapy. Among the different factors which might be responsible for the appearance and progress of dystrophic changes in muscles there is an excessive action of oxidative stress. In this review data indicating the influence of oxidative stress on the severity of the pathologic processes in dystrophy are discussed. Several pieces of data indicating the action of oxidative damage to different macromolecules in DMD/BDM are presented. Special attention is devoted to the degree of oxidative damage to muscle proteins, the activity of neuronal nitric oxide synthase (nNOS) and their involvement in defining the severity of the dystrophic processes. It is indicated that the severity of the morbid process is related to the degree of oxidative damage to muscle proteins and the decrease of the nNOS activity in muscles. Estimation of the degree of the destructive action of oxidative stress in muscular dystrophy may be a useful marker facilitating introduction of an effective antioxidant therapy and regulation of nNOS activity.
Źródło:
Acta Biochimica Polonica; 2005, 52, 2; 449-452
0001-527X
Pojawia się w:
Acta Biochimica Polonica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
The influence of selenium deficiency on chosen biochemical parameters and histopathological changes in muscles of goat kids
Autorzy:
Sobiech, P.
Żarczyńska, K.
Powiązania:
https://bibliotekanauki.pl/articles/2087329.pdf
Data publikacji:
2020
Wydawca:
Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:
nutritional muscular dystrophy
selenium deficiency
LDH isoenzymes
goat kids
Źródło:
Polish Journal of Veterinary Sciences; 2020, 23, 2; 267-279
1505-1773
Pojawia się w:
Polish Journal of Veterinary Sciences
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Ultrastructure of diaphragm from dystrophic α-sarcoglycan-null mice.
Autorzy:
Jakubiec-Puka, Anna
Biral, Donatella
Krawczyk, Kazimierz
Betto, Romeo
Powiązania:
https://bibliotekanauki.pl/articles/1041427.pdf
Data publikacji:
2005
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
muscle ultrastructure
type 2D limb girdle muscular dystrophy
α-sarcoglycan
sarcoglycan-deficient mouse
myopathy
Opis:
α-Sarcoglycan is a 50 kDa single-pass transmembrane glycoprotein exclusively expressed in striated muscle that, together with β-, γ-, and δ-sarcoglycan, forms a sub-complex at the muscle fibre cell membrane. The sarcoglycans are components of the dystrophin-associated glycoprotein (DAG) complex which forms a mechanical link between the intracellular cytoskeleton and extracellular matrix. The DAG complex function is to protect the muscle membrane from the stress of contractile activity and as a structure for the docking of signalling proteins. Genetic defects of DAG components cause muscular dystrophies. A lack or defects of α-sarcoglycan causes the severe type 2D limb girdle muscular dystrophy. α-Sarcoglycan-null (Sgca-null) mice develop progressive muscular dystrophy similar to the human disorder. This animal model was used in the present work for an ultrastructural study of diaphragm muscle. Diaphragm from Sgca-null mouse presents a clear dystrophic phenotype, with necrosis, regeneration, fibre hypertrophy and splitting, excess of collagen and fatty infiltration. Some abnormalities were also observed, such as centrally located nuclei of abnormal shape, fibres containing inclusion bodies within the contractile structure, and fibres with electron-dense material dispersed over almost the entire cell. Additionally, unusual interstitial cells of uncertain identity were detected within muscle fibres. The abnormal ultrastructure of the diaphragm from Sgca-null mice is discussed.
Źródło:
Acta Biochimica Polonica; 2005, 52, 2; 453-460
0001-527X
Pojawia się w:
Acta Biochimica Polonica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
A pattern recognition approach to Emery-Dreifuss muscular dystrophy (EDMD) study
Autorzy:
Sokołowska, B.
Jóźwik, A.
Niebroj-Dobosz, I. M.
Hausmanowa-Petrusewicz, I.
Powiązania:
https://bibliotekanauki.pl/articles/332948.pdf
Data publikacji:
2014
Wydawca:
Uniwersytet Śląski. Wydział Informatyki i Nauki o Materiałach. Instytut Informatyki. Zakład Systemów Komputerowych
Tematy:
pattern recognition
feature selection
pair-wise linear classifier
metalloproteinases and their tissue inhibitors
Emery-Dreifuss muscular dystrophy
rozpoznawanie obrazów
wybór funkcji
metaloproteinaza
dystrofia mięśniowa
Opis:
The algorithms of pattern recognition were used for differentiation between two forms of Emery-Dreifuss muscular dystrophy (EDMD), i.e. autosomal-dominant laminopathy (AD-EDMD) and Xlinked emerynopathy (X-EDMD). A set of some matrix metalloproteinases (MMPs) and their tissue inhibitors (TIMPs) in serum of EDMD patients and healthy subjects were treated as features. In concluding MMPs and TIMPs levels are helpful to identifying the EDMD patients and the disease progress.
Źródło:
Journal of Medical Informatics & Technologies; 2014, 23; 165-172
1642-6037
Pojawia się w:
Journal of Medical Informatics & Technologies
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Texture-based identification of dystrophy phase. Indicating the most suitable features for therapy testing
Autorzy:
Duda, D.
Powiązania:
https://bibliotekanauki.pl/articles/333618.pdf
Data publikacji:
2018
Wydawca:
Uniwersytet Śląski. Wydział Informatyki i Nauki o Materiałach. Instytut Informatyki. Zakład Systemów Komputerowych
Tematy:
Golden Retriever Muscular Dystrophy
MRI-based tissue characterization
texture analysis
Monte Carlo feature selection
classification
dystrofia mięśniowa Duchenne'a
obrazowanie metodą rezonansu magnetycznego
analiza tekstury
klasyfikacja
Opis:
In this study, texture analysis (TA) is applied for characterization of dystrophic muscles visualized on T2-weighted Magnetic Resonance (MR) images. The study proposes a strategy for indicating the textural features that are the most appropriate for testing the therapies of Duchenne muscular dystrophy (DMD). The strategy considers that muscle texture evolves not only along with the disease progression but also with the individual’s development. First, a Monte Carlo (MC) procedure is used to assess the relative importance of each feature in identifying the phases of growth in healthy controls. The features considered as age-dependent at a given acceptance threshold are excluded from further analyses. It is assumed that their application in therapies’ evaluation may entail an incorrect assessment of dystrophy response to treatment. Next, the remaining features are used in differentiation among dystrophy phases. At this step, an MC-based feature selection is applied to find an optimal subset of features. Experiments are repeated at several acceptance thresholds for age-dependent features. Different solutions are finally compared with two classifiers: Neural Network (NN) and Support Vector Machines (SVM). The study is based on the Golden Retriever Muscular Dystrophy (GRMD) model. In total, 39 features provided by 8 TA methods (statistical, filter- and model-based) are tested.
Źródło:
Journal of Medical Informatics & Technologies; 2018, 27; 29-40
1642-6037
Pojawia się w:
Journal of Medical Informatics & Technologies
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Genetic diseases and other unusual disorders presented in art paintings
Choroby genetyczne i inne rzadkie zaburzenia przedstawiane na obrazach
Autorzy:
Laskowska, Magdalena
Krześlak, Anna
Forma, Ewa
Jóźwiak, Paweł
Bryś, Magdalena
Powiązania:
https://bibliotekanauki.pl/articles/1032594.pdf
Data publikacji:
2012
Wydawca:
Łódzkie Towarzystwo Naukowe
Tematy:
genetics diseases
art paintings
down syndrome
spondyloepiphyseal dysplasia congenita
marfan syndrome
myotonic dystrophy
paget’s disease
tetralogy of fallot
choroby genetyczne
malarstwo
zespół downa
wrodzona
dysplazja kręgosłupowo-nasadowa
zespół marfana
dystrofia miotoniczna
choroba pageta
tetralogia fallota
Opis:
Genetic disorders are a diseases caused by abnormalities in an individual’s genetic material. A good source providing purported evidence of the existence of genetic diseases in the past, before their identification by medicine, are European artists’ paintings. Such paintings quite frequently depicted human anomalies and disorders. In this work we present the examples of paintings depicting people suffering from diseases such as Down Syndrome, spondyloepiphyseal dysplasia congenital, Marfan syndrome, myotonic dystrophy, Paget’s disease and tetralogy of Fallot.
Choroby genetyczne człowieka są wynikiem zaburzeń w materiale genetycznym. Źródłem historycznym dostarczającym dowodów na istnienie tych schorzeń w przeszłości, zanim zostały one zidentyfikowane, są obrazy dawnych europejskich malarzy. Artyści często w sposób bezwiedny uwieczniali w swoich pracach ludzi obarczonych anomaliami. W prezentowanej pracy zamieszczone zostały przykłady dzieł przedstawiających ludzi dotkniętych chorobami takimi jak zespół Downa, dysplazja kręgosłupowo-nasadowa, zespół Marfana, dystrofia miotoniczna, choroba Pageta oraz tetralogia Fallota.
Źródło:
Folia Medica Lodziensia; 2012, 39, 1; 5-19
0071-6731
Pojawia się w:
Folia Medica Lodziensia
Dostawca treści:
Biblioteka Nauki
Artykuł
    Wyświetlanie 1-14 z 14

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