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    Wyświetlanie 1-6 z 6
    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:
    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:
    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:
    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:
    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:
    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
      Wyświetlanie 1-6 z 6

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