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Tytuł:
Molecular factors involved in the development of diabetic foot syndrome
Autorzy:
Bruhn-Olszewska, Bożena
Korzon-Burakowska, Anna
Gabig-Cimińska, Magdalena
Olszewski, Paweł
Węgrzyn, Alicja
Jakóbkiewicz-Banecka, Joanna
Powiązania:
https://bibliotekanauki.pl/articles/1039639.pdf
Data publikacji:
2012
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
Diabetic foot syndrome
molecular mechanisms
Charcot neuroartropathy
bone metabolism
Opis:
Diabetes is one of the major challenges of modern medicine, as it is considered a global epidemic of the XXI century. The disease often leads to the development of serious, health threatening complications. Diabetic foot syndrome is a characteristic set of anatomical and molecular changes. At the macroscopic level, major symptoms are neuropathy, ischemia and chronic ulceration of the lower limb. In every third patient, the neuropathy develops into Charcot neuroarthropathy characterized by bone and joints deformation. Interestingly, all these complications are a result of impaired healing processes and are characteristic for diabetes. The specificity of these symptoms comes from impaired molecular mechanisms observed in type 1 and type 2 diabetes. Decreased wound and fracture healing reflect gene expression, cellular response, cell functioning and general metabolism. Here we present a comprehensive literature update on the molecular factors contributing to diabetic foot syndrome.
Źródło:
Acta Biochimica Polonica; 2012, 59, 4; 507-513
0001-527X
Pojawia się w:
Acta Biochimica Polonica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
A severe recessive and a mild dominant form of Charcot-Marie-Tooth disease associated with a newly identified Glu222Lys GDAP1 gene mutation
Autorzy:
Kabzińska, Dagmara
Kotruchow, Katarzyna
Cegielska, Joanna
Hausmanowa-Petrusewicz, Irena
Kochański, Andrzej
Powiązania:
https://bibliotekanauki.pl/articles/1039205.pdf
Data publikacji:
2014
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
GDAP1
Charcot-Marie-Tooth disease
autosomal dominant and recessive traits
Opis:
Charcot-Marie-Tooth (CMT) disease caused by mutations in the GDAP1 gene has been shown to be inherited via traits that may be either autosomal recessive (in the majority of cases) [CMT4A] or autosomal dominant [CMT2K]. CMT4A disease is characterized by an early onset, and a severe clinical course often leading to a loss of ambulation, whereas CMT2K is characterized by a mild clinical course of benign axonal neuropathy beginning even in the 6th decade of life. Clinical data from a GDAP1 mutated patient suggests that the presence of a particular mutation is associated with a certain trait of inheritance. The association of a particular GDAP1 gene mutation and a dominant or recessive trait of inheritance is of special importance for genetic counseling and the prenatal diagnostics as regards severe forms of CMT. In the present study we report on two CMT families in which a newly identified Glu222Lys mutation within the GDAP1 gene segregates both in autosomal dominant and recessive traits. Our study shows that at least some GDAP1 gene mutations may segregate with the CMT phenotype as both dominant and recessive traits. Thus, genetic counseling for CMT4A/CMT2K families requires more extensive data on GDAP1 phenotype-genotype correlations.
Źródło:
Acta Biochimica Polonica; 2014, 61, 4; 739-744
0001-527X
Pojawia się w:
Acta Biochimica Polonica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Ofelia Pirandella: rozważania nad kobiecym szaleństwem
Autorzy:
Koman, Aleksandra
Powiązania:
https://bibliotekanauki.pl/articles/646029.pdf
Data publikacji:
2017
Wydawca:
Uniwersytet Pedagogiczny im. Komisji Edukacji Narodowej w Krakowie
Tematy:
Luigi Pirandello
Jaką mnie pragniesz
bezosobowość
Ofelia
tarantyzm
Aleksandra Mianowska
Jean-Martin Charcot
kobiece szaleństwo
kobieca tożsamość
Elaine Showalter
krytyka feministyczna
Opis:
Ophelia of Pirandello: reflections around female madness Abstract The article is devoted to an analysis of Luigi Pirandello’s drama As You Desire Me which drawsinspiration from an actual event connected with questions on the identity of a person sufferingfrom amnesia. Unlike the real incident, the main character of Pirandello’s is a woman knownonly by her alias Stranger, as the main theme of the drama is establishing her true identity. Thepresent article aims at proving that Pirandello’s drama is not a criminal mystery, but rathera deep reflection on the notion of human personality which in the case of a woman receivesnew, interesting meanings. One of them is spotting the correspondence between Pirandelli’sStranger and Shakespeare’s Ophelia, as madness of both characters appears to have similarroots: female’s insanity seen through the prism of both dramas appears as defiance againstthe culture of patriarchy, but also stems from the conviction of one’s own emptiness andundefinedness. In this context, referring to studies on feminist criticism (E. Shawalter,K. Kłosińska, K. Woźniak), including studies on female hysteria is of relevance. Even thoughthe structure of drama appears to lead to a finale in which the truth about the character isuncovered, Pirandello does not reveal her true identity. However, questions on female identityand female madness are worth reflecting upon, even if they remain unanswered. Keywords: Luigi Pirandello, As you desire me, impersonality, Ophelia, tarantism, Jean-MartinCharcot, Aleksandra Mianowska, female madness, female identity, Elaine Showalter, feministliterary criticism
Źródło:
Annales Universitatis Paedagogicae Cracoviensis. Studia Historicolitteraria; 2017, 17; 150-158
2081-1853
Pojawia się w:
Annales Universitatis Paedagogicae Cracoviensis. Studia Historicolitteraria
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Rumowisko kostne rozpoznane ultrasonograficznie jako typowy obraz w zaawansowanej fazie artropatii Charcota – opis przypadku
Ultrasound-diagnosed bone and joint destruction as a typical image in advanced Charcots arthropathy – case report
Autorzy:
Konarzewska, Aleksandra
Rzepecka-Wejs, Ludomira
Korzon-Burakowska, Anna
Powiązania:
https://bibliotekanauki.pl/articles/1061700.pdf
Data publikacji:
2012
Wydawca:
Medical Communications
Tematy:
Charcot arthropathy
diabetic foot
diagnostic imaging
neuropathic arthropathy
ultrasonography
artropatia charcota
artropatia neurogenna
diagnostyka obrazowa
stopa cukrzycowa
ultrasonografia
Opis:
The paper presents a case of Charcot foot in a patient with long standing type 2 diabetes and complicated by peripheral neuropathy. It was initially diagnosed by an ultrasound examination and subsequently confirmed by an X-ray and an magnetic resonance imaging. Diabetic neuropathy is nowadays the most frequent cause of Charcot arthropathy, although it can be also a result of other diseases of the nervous system. In the acute phase the patient usually presents with edema, redness and increased temperature of the foot, which can suggest many other diagnoses including bacterial infection, gout, venous thrombosis or trauma. Because of its non specific clinical presentation and unsufficient awareness of the specificity of the diabetic foot syndrome among health professionals and the patients the diagnosis of this process is in many cases delayed. In the acute phase appropriate treatment needs to be initiated (mainly off loading and immobilization of the foot in a total contact cast), otherwise a rapidly progressing destruction of the bones and joints will usually begin, leading to fractures, dislocations and a severe foot deformity. Increased awareness among doctors taking care of the diabetic patients and appropriate use of the imaging methods can definitely improve efficacy of the diagnostic process and help to optimize the treatment of Charcot arthropathy. The standard approach usually includes use of radiography, magnetic resonance imaging and scintigraphy. In some cases a sonographer may be the first one to notice typical signs of bony destruction in a patient with Charcot arthropathy and suggest immediate further imaging in order to confirm the diagnosis and to minimize the risk of mutilating complications.
W pracy przedstawiono przypadek artropatii Charcota w obrębie stopy u pacjenta z wieloletnią cukrzycą typu 2., powikłaną rozwojem neuropatii, rozpoznany w badaniu ultrasonograficznym, a następnie potwierdzony w badaniu rentgenowskim i w rezonansie magnetycznym. Neuropatia cukrzycowa jest obecnie najczęstszą przyczyną osteoartropatii neurogennej (zwanej artropatią Charcota), choć może się ona rozwinąć również w przebiegu innych schorzeń układu nerwowego. W obrazie klinicznym fazy ostrej dominują obrzęk, zaczerwienienie oraz wzmożone ucieplenie stopy, co może sugerować wiele innych jednostek chorobowych, takich jak bakteryjny stan zapalny, napad dny moczanowej, zakrzepica żylna lub uraz. Ze względu na niespecyficzny obraz kliniczny oraz niewystarczającą świadomość specyfiki zespołu stopy cukrzycowej wśród pracowników służby zdrowia i pacjentów rozpoznanie tego powikłania w wielu przypadkach bywa opóźnione. Jeśli w fazie ostrej nie zastosuje się właściwego leczenia polegającego głównie na odciążeniu i unieruchomieniu w odpowiednim opatrunku gipsowym, dochodzi zazwyczaj do gwałtownie postępującej destrukcji struktur kostno-stawowych, złamań, zwichnięć oraz znacznej deformacji stopy. Czujność diagnostyczna lekarzy opiekujących się pacjentami z cukrzycą oraz właściwe wykorzystanie badań obrazowych mogą znacząco wpłynąć na poprawę skuteczności diagnostyki i optymalizację leczenia artropatii Charcota. Standardowe badania wykonywane w procesie diagnostycznym obejmują głównie badanie rentgenowskie, rezonans magnetyczny oraz scyntygrafię. W niektórych przypadkach również ultrasonografista może rozpoznać typowy obraz rumowiska kostnego w przebiegu artropatii Charcota i zasugerować kolejne badania obrazowe w trybie pilnym, aby potwierdzić diagnozę i umożliwić wdrożenie właściwego postępowania minimalizującego ryzyko okaleczających powikłań.
Źródło:
Journal of Ultrasonography; 2012, 12, 49; 226-232
2451-070X
Pojawia się w:
Journal of Ultrasonography
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Przewlekła zapalna polineuropatia demielinizacyjna u dzieci
Childhood chronic inflammatory demyelinating polyneuropathy
Autorzy:
Łukawska, Małgorzata
Potulska-Chromik, Anna
Kostera-Pruszczyk, Anna
Powiązania:
https://bibliotekanauki.pl/articles/2057233.pdf
Data publikacji:
2017
Wydawca:
Polskie Towarzystwo Neurologów Dziecięcych
Tematy:
przewlekła zapalna polineuropatia demielinizacyjna
choroba Charcot-Marie-Tooth
IVIg
zespół Guillain-Barré
chronic inflammatory demyelinating polyneuropathy
Charcot-Marie-Tooth disease
intravenous immunoglobulin
Guillain-Barré syndrome
Opis:
Przewlekła zapalna polineuropatia demielinizacyjna (Chronic inflammatory demyelinating polyneuropathy, CIDP) jest rzadką chorobą o podłożu autoimmunologicznym charakteryzującą się postępującym niedowładem i/lub zaburzeniami czucia oraz hipo- lub arefleksją. Dziecięca postać CIDP najczęściej rozwija się w ciągu 8 tygodni, ale u 20% choroba ma początek podostry (4–8 tygodni), a u pozostałych ostry (< 4 tygodni). Czasami pierwsze objawy poprzedzone są infekcją układu oddechowego bądź pokarmowego. Typowy obraz kliniczny to postępujący, symetryczny niedowład mięśni proksymalnych i dystalnych kończyn dolnych prowadzący do zaburzeń chodu i upadków. CIDP u dzieci przeważnie ma przebieg rzutowo-remisyjny. Kryteria rozpoznania obejmują również zmiany o charakterze demielinizacji stwierdzane w elektroneurografii (ENG) oraz badanie płynu mózgowo-rdzeniowego, które wykazuje rozszczepienie białkowo-komórkowe. Biopsja nerwu łydkowego nie jest już zalecana w rutynowej diagnostyce. CIDP należy różnicować przede wszystkim z zespołem Guillain’a-Barrego (Guillain-Barré syndrome, GBS), dziedzicznymi czuciowo-ruchowymi polineuropatiami, szczególnie chorobą Charcot-Marie-Tooth (CMT), oraz poliradikulopatią w przebiegu boreliozy. Leczeniem pierwszego rzutu są dożylne wlewy immunoglobulin (intravenous immunoglobulin, IVIg) oraz glikokortykosteroidy (GKS), po których u większości pacjentów występuje dość szybka poprawa stanu klinicznego. W drugim rzucie można zastosować leczenie skojarzone IVIg z GKS, plazmaferezę, a także dołączyć leki immunosupresyjne, przeważnie azatioprynę. CIDP u dzieci ma dobre rokowanie, najczęściej występuje remisja, całkowita bądź z minimalnymi objawami ubytkowymi.
Chronic inflammatory demyelinating polyneuropathy (CIDP) is a rare autoimmune disease characterised by progressive weakness and/or sensory symptoms and hipo- or areflexia. The disease develops insidiously (> 8 weeks) in most cases but 20% has a subacute onset (4–8 weeks) and 20% an acute onset (< 4 weeks). Sometimes first symptoms are preceded by a respiratory tract infection or gastroenteritis. The typical clinical presentation is a progressive symmetrical weakness of proximal and distal muscles of lower limbs leading to gait disturbance and falls. Childhood CIDP in most cases has a relapsing- remitting course. Diagnostic criteria include also demyelinating changes in nerves in the nerve conduction study (NCV) and elevated protein levels without pleocytosis in cerebrospinal fluid. The sural biopsy is no longer recommended in a routine diagnosis. Differential diagnosis includes Guillain-Barré syndrome (GBS), hereditary sensorimotor polyneuropathies, especially Charcot-Marie-Tooth disease (CMT), and polyradiculopathy as a presenting symptom of boreliosis. The first-line treatment is intravenous immunoglobulin (IVIg) and corticosteroids, both of which improve patients’ symptoms quite quickly. The second- line treatment includes IVIg together with corticosteroids, plasma exchange and an immunosuppressive drug, most commonly azathioprine. The childhood CIDP has a good prognosis with a remission or minimal deficits in most cases.
Źródło:
Neurologia Dziecięca; 2017, 26, 53; 39-46
1230-3690
2451-1897
Pojawia się w:
Neurologia Dziecięca
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Screening of the myelin protein zero gene in patients with Charcot-Marie-Tooth disease.
Autorzy:
Nowakowski, Adam
Kochański, Andrzej
Powiązania:
https://bibliotekanauki.pl/articles/1043357.pdf
Data publikacji:
2004
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
Charcot-Marie-Tooth disease
heteroduplex analysis
MPZ gene
SSCP
Opis:
The myelin protein zero gene (MPZ) coding for the most abundant protein of the peripheral myelin was shown to be mutated in Charcot-Marie-Tooth type 1B disease (CMT1B). Later on MPZ mutations have been shown in axonal type of CMT (CMT2). Recently three novel MPZ gene mutations were reported in congenital hypomyelinating neuropathy (CHN). In contrast to the previously reported studies, focused on CMT1B disease, we aimed to analyze the coding and promoter sequences of the MPZ gene in a group of patients with three CMT phenotypes i.e.: CMT1, CMT2 and CHN. Over 500 PCR products were screened by single strand conformation polymorphism analysis (SSCP) and heteroduplex analysis (HA). In one CMT2 family we founded the E56K mutation in the MPZ gene and in one CHN patient the T124K substitution was detected. In agreement with previously reported studies we conclude that MPZ gene screening should be performed for wide phenotype spectrum of CMT.
Źródło:
Acta Biochimica Polonica; 2004, 51, 1; 273-280
0001-527X
Pojawia się w:
Acta Biochimica Polonica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Wątki artystyczne w fotografii histerii Jean-Martina Charcota
Artistic threads in the photography of J.-M. Charcot
Autorzy:
Rowińska, Anna
Powiązania:
https://bibliotekanauki.pl/articles/514834.pdf
Data publikacji:
2016
Wydawca:
Fundacja dzień dobry! kolektyw kultury
Tematy:
hysteria
photography
Charcot
Londe
Richer
Salpêtrière
physiognomy
psychiatry
iconography
histeria
fotografia
Salpêtrière
fizjonomia
psychiatria
ikonografia.
Opis:
Hysteria, although diagnosed since antiquity, was a disease characteristic for the fin de siècle, and was a phenomenon situated between art and psychiatry. It has been described and documented, among others, by the French neurologist Jean-Martin Charcot (1825–1893). Charcot's research resulted in a number of medical publications, as well as a fascinating photo archive, which shows the different stages and views of a hysterical attack. In his book “Invention de l'Hysterie: Charcot et l'iconographie photographique de la Salpêtrière” Georges Didi-Huberman wrote that he is almost forced to consider hysteria, to the extent in which it occurred in Salpêtrière in the last third of the nineteenth century, as a chapter in the history of art. I argue that the pictures of hysteria commissioned by Charcot in the Salpêtrière hospital are also a chapter in the history of photography, narrativity, and most importantly – art, and they are not only medical archives with no artistic features. The advent of photography was crucial for the existence of a particular understanding of diseases. In the text I deal with such issues and I answer the question whether the analysis process of the images commissioned by Charcot is an attempt to transform them into the work of art or they were works of art from the outset. I also analyse whether this is only a photographic documentation of piece of art, which was the hysteria. Using the terminology of François Soulages, we should consider what do Charcot's photos actually "want" to be, what constitutes them as works of art or as part of art history. What assumptions lie at the origins of their occurrence and what are the consequences resulting from the clash of these assumptions with the topic of the medium, media, cultural-historical context and audience.
Źródło:
Amor Fati; 2016, 1(5); 187-217
2449-7819
Pojawia się w:
Amor Fati
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Application of kinesitherapy within the process of rehabilitation of patients with Charcot-Marie-Tooth nerval amyotrophia
Autorzy:
Rybalko, Lina
Kletsenko, Liudmyla
Vyshar, Yevheniia
Heta, Alla
Żukow, Xawery
Levkov, Anatolij
Zukow, Walery
Muszkieta, Radosław
Hagner-Derengowska, Magdalena
Smoleńska, Olga
Kindrat, Vadim
Powiązania:
https://bibliotekanauki.pl/articles/2207112.pdf
Data publikacji:
2023-03-25
Wydawca:
Uniwersytet Rzeszowski. Wydawnictwo Uniwersytetu Rzeszowskiego
Tematy:
Charcot-Marie-Tooth
kinesitherapy
nerval amyotrophia
Opis:
Introduction and aim. Researching inherited polyneuropathy is vastly topical in the course of the contemporary practice of physical therapy and ergotherapy. The article unveils the results of the application of kinesitherapy in the process of rehabilitation of patients with Charcot-Marie-Tooth nerval amyotrophia. Inherited Charcot-Marie-Tooth neuropathy is a genetical disease, which is manifested with the slow reduction of the size of muscles of limbs and weakening of distal locations, is the most widespread clinical form of inherited polyneuropathies, which affect people regardless of generational and gender-based; mostly young and workable people become the objects suffering from its impact. Description of the case. Due to the relatively low frequency of the multiplication of the disease within the population (according to the data from clinical statistics, the prevalence of all types of Charcot-Marie-Tooth amyotrophia per 100 thousand people is approximately 36 cases) four patients with Charcot-Marie-Tooth nerval amyotrophia aged in the area from 14 to 20 years took part in the research. In the course of the research, we applied the method of electroneuromyography, which provided the opportunity of detecting the rate of impulse impact via afferent and efferent ways, the duration of M-response and the number of movable entities within lower limbs. Conclusion. As a result of classes being held and carried out according to the experimental kinesitherapy study program, there was the detection of positive tendencies of changing the psychophysical state of patients, diagnosed with “Charcot- -Marie-Tooth nerval amyotrophia”.
Źródło:
European Journal of Clinical and Experimental Medicine; 2023, 1; 169-179
2544-2406
2544-1361
Pojawia się w:
European Journal of Clinical and Experimental Medicine
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
The 5 regulatory sequence of the PMP22 in the patients with Charcot-Marie-Tooth disease
Autorzy:
Sinkiewicz-Darol, Elena
Kabzińska, Dagmara
Moszyńska, Izabela
Kochański, Andrzej
Powiązania:
https://bibliotekanauki.pl/articles/1040387.pdf
Data publikacji:
2010
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
gene dosage effect
Charcot-Marie-Tooth disease
PMP22 gene
Opis:
Little is known about the molecular background of clinical variability of Charcot-Marie-Tooth type 1A (CMT1A) disease and hereditary neuropathy with liability to pressure palsies (HNPP). The CMT1A and HNPP disorders result from duplication and deletion of the PMP22 gene respectively. In a series of studies performed on affected animal transgenic models of CMT1A disease, expression of the PMP22 gene (gene dosage) was shown to correlete with severity of CMT course (gene dosage effect). In this study we hypothesized that single nucleotide polymorphisms (SNPs) located within the 5' regulatory sequence of PMP22 gene may be responsible for the CMT1A/HNPP clinical variability. We have sequenced the PMP22 5' upstream regulatory sequence in a group of 45 CMT1A/HNPP patients harboring the PMP22 duplication (37) /deletion (8). We have identified five SNPs in the regulatory sequence of the PMP22 gene. Three of them i.e. -819C>T, -4785G>T, -4800C>T were detected both in the patients and in the control group. Thus, their pathogenic role in the regulation of the expression of the PMP22 gene seems not to be significant. Two SNPs i.e. -4210T>C and -4759T>A were found only in the CMT patients. Their role in the regulation of the PMP22 gene expression can not be excluded. Additionally we have detected the Thr118Met variant in exon 4 of the PMP22 gene, which was previously reported by other authors, in one patient. We conclude that the 5' regulatory sequence of the PMP22 gene is conserved at the nucleotiode level, however rarely occurring SNPs variant in the PMP22 regulatory sequence may be associated with the gene dosage effect.
Źródło:
Acta Biochimica Polonica; 2010, 57, 3; 373-377
0001-527X
Pojawia się w:
Acta Biochimica Polonica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Między ekspresją artystyczną a ekspresją faktu. Jean-Martin Charcot i Aby Warburg wobec ikonografii szaleństwa
Between artistic expression and factual expression: Jean -Martin Charcot and Aby Warburg on the iconography of madness
Autorzy:
Skrabek, Aleksandra
Powiązania:
https://bibliotekanauki.pl/articles/706973.pdf
Data publikacji:
2014
Wydawca:
Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:
Charcot
Warburg
iconography
madness
ikonografia
szaleństwo
Opis:
This paper deals with the relationship between art and medicine. It is concerned with the problem of artistic expression, as well as non-artistic and natural expression, in the context of questions on the genesis of a work of art, the meaning of expression in art, and the influence of visual images on the development of methods of expression. These issues, in which strictly artistic problems are related to the psychology of expression and representation, are raised by the Salpêtrière Hospital’s medical records on hysteria, gathered over the years under the supervision of Dr. Charcot, and depicting female patients in expressive poses. Another example used is the work of one of the most prominent historians of twentieth century art and culture, Aby Warburg, who was fascinated, among other things, by representations of violent sensations and emotional stirrings, mainly those caused by religious experience. An important aspect of the text is the comparison between the methods and interests of both researchers of madness. Another is finding out whether the similarity between the representations of the raving maenads, which for Warburg were a vehicle for expression, and the photographs and drawings of hysterics executed by the employees of Salpêtrière Hospital, leads to the conclusion that these depictions present the same “pathos formulas” recurring in art, and if the convergence between the photographs of Charcot’s patients and the photographs of carvings and images compared by Warburg in Mnemosyne Atlas may be interpreted as artistic formulas of expression. The article is also an attempt to examine how the hospital iconography of hysteria has influenced specific artistic works, in which “medical” expression has undergone a purely artistic transformation.
Źródło:
Rocznik Historii Sztuki; 2014, 39; 109-124
0080-3472
Pojawia się w:
Rocznik Historii Sztuki
Dostawca treści:
Biblioteka Nauki
Artykuł
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