Wynik wyszukiwania w bazie Polska Bibliografia Lekarska GBL

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Tytuł oryginału: Suicide muscle cell programme-apoptosis. Ultrastructural study.
Autorzy: Fidziańska Anna
Źródło: Folia Neuropathol. 2002: 40 (1) s.27-32, il., bibliogr. 20 poz.
Sygnatura GBL: 304,961

Hasła klasyfikacyjne GBL:
  • pediatria
  • neurologia
  • traumatologia i ortopedia

    Typ dokumentu:
  • praca kazuistyczna
  • tytuł obcojęzyczny

    Wskaźnik treści:
  • ludzie
  • niemowlęta

    Streszczenie angielskie: To establish the ultrastructural criteria of suicide muscle cell programme-apoptosis we investigated the muscle biopsies of acute fatal spinal muscular atrophy (SMA) infants with gene survival motor neurone (SMN) exon 7 deletion. The muscle cell apoptosis was characterised by precisely sequential morphology of both cell nucleus and sarcoplasm. The most characteristic feature was the aggregation of nuclear chromatin initially into peripherally located ring and later into uniformly dense, dark masses. Accompanying features included sarcoplasmic condensation cell shrinking and fragmentation into multiple bodies. The coexistence of muscle cells at different stages of apoptosis in the same tissue section was the most prominent and specific features of suicide muscle cell progarmme. The appearance of an identical sequence of ultrastructural changes in muscle as observed in other tissues suggesrs that a unique mechanism is involved in genetically programmed cell death.


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    Tytuł oryginału: Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome).
    Autorzy: Tristani-Firouzi Martin, Jensen Judy L., Donaldson Matthew R., Sansone Valeria, Meola Giovanni, Hahn Angelika, Bendahhou Said, Kwieciński Hubert, Fidziańska Anna, Plaster Nikki, Fu Ying-Hui, Ptacek Louis J., Tawil Rabi
    Źródło: J. Clin. Invest. 2002: 110 (3) s.381-388, il., tab., bibliogr. 38 poz.
    Sygnatura GBL: 310,487

    Hasła klasyfikacyjne GBL:
  • pediatria
  • genetyka
  • kardiologia

    Typ dokumentu:
  • praca kliniczna
  • praca opublikowana za granicą
  • tytuł obcojęzyczny

    Wskaźnik treści:
  • ludzie
  • noworodki
  • niemowlęta
  • dzieci 2-5 r.ż.
  • dzieci 6-12 r.ż.
  • dzieci 13-18 r.ż.
  • dorośli 19-44 r.ż.

    Streszczenie angielskie: Andersen syndrome (AS) is a rare, inherited disorder characterized by periodic paralysis, long QT (LQT) with ventricular arrhythmias, and skeletal developmental abnormalitise. We recently established that AS is caused by mutations in KCNJ2, which encodes the inward rectifier K+ channel Kir2.1. In this report, we characterized the functional consequences of three novel and seven previously described KCNJ2 mutations using a two-microelectrode voltage-clamp technique and correlated the findings with the clinical phenotype. All mutations resulted in loss of function and dominant-negative suppression of Kir2.1 channel function. In mutation carriers, the frequency of periodick paralysis was 64 p.c. and dysmorphic features 78 p.c. LQT was the primary cardiac manifestation, present in 71 p.c. of KCNJ2 mutation carriers, with ventricular arrhythmias present in 64 p.c. While arrhythmias were common, none of our subjects suffered sudden cardiac death. To gain insight into the mechanismof arrhythmia susceptibility, we simulated the effect of reducdd Kir2.1 using a ventricular myocyte model. A reduction in Kir2.1 prolonged the termkinal phase of the cardiac action potential, and n the setting of reduced extracellular K+, nduced Na+/Ca2+ exchanger-dependent delayed afterdepolarizations and spontaneous arrhythmias. These findings suggest that the substrate for arrhythmia susceptibility in AS is distinct from the other forms of inherited LQT syndrome.


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    Tytuł oryginału: Patofizjologia : podręcznik dla studentów medycyny
    Autorzy: Bańkowski Edward, Bełtowski Jerzy, Białkowska Magdalena, Chłap Zbigniew, Cybulska Barbara, Czekalski Stanisław, Czokało-Plichta Maria, Dąbrowski Ryszard, Dzierżkowska Jolanta, Fidziańska Elżbieta, Fogel Wiesława A., Górnicki Mirosław, Górny Dionizy, Gujski Mariusz, Gumułka Stanisław W., Guzek Jan W., Jagielski Józef, Kaleta Zbigniew, Kłosiewicz-Latoszek Longina, Knapowski Jan, Kostowski Wojciech, Kotschy Maria, Kowalski Janusz, Kwarecki Krzysztof, Markiewicz Lech, Maślińska Danuta, Maśliński Czesław, Maśliński Sławomir, Opuchlik Andrzej, Poppe Paweł, Ryżewski Jan, Szostak Wiktor B., Szukiewicz Dariusz, Śródka Andrzej, Tchórzewski Henryk, Tyrakowski Tomasz, Witanowska Anna, Wróbel Jan, Zaremba Jacek, Ziemba Andrzej W., Ziemlański Światosław, Zużewicz Krystyna, Żarski Stefan
    Opracowanie edytorskie: Maśliński Sławomir (red.), Ryżewski Jan (red.).
    Wydanie: - Wyd. 3
    Źródło: - Warszawa, Wydaw. Lekarskie PZWL 2002, 1067, [1] s. : il., tab., 24 cm.
    Sygnatura GBL: 735,706

    Wskaźnik treści:
  • ludzie


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    Tytuł oryginału: Is the normal content of sulfhydryl groups attributable to sparing from dystrophic pathology in dystrophin-deficient muscles?
    Autorzy: Niebrój-Dobosz Irena, Fidziańska Anna, Glinka Zofia, Hausmanowa-Petrusewicz Irena
    Źródło: Folia Neuropathol. 2002: 40 (3) s.143-150, il., tab., bibliogr. 33 poz.
    Sygnatura GBL: 304,961

    Hasła klasyfikacyjne GBL:
  • pediatria
  • traumatologia i ortopedia

    Typ dokumentu:
  • praca kliniczna
  • praca doświadczalna
  • tytuł obcojęzyczny

    Wskaźnik treści:
  • ludzie
  • dzieci 6-12 r.ż.
  • dzieci 13-18 r.ż.
  • dorośli 19-44 r.ż.
  • zwierzęta
  • myszy

    Streszczenie angielskie: Deficiency of dystrophin in skeletal muscles is supposed to be responsible for all the symptoms associated with Duchenne dystrophy (DMD) and Becker dystrophy (BMD). The dystrophin-deficient mdx mice, however, are clinically almost asymptomatic. Hence, other factor(s) might be responsible for the muscle pathology in DMD and BDM. As sulfhydryl groups are involved in mainatining the structure of membranes and the protein-phospholipid interactions, total, protein-bound and free sulfhydryl groups (-SH) in DMD, BMD, limb-girdle dystrophy (LGMD) and the mdx mice muscles have been determined. A significant decrease of total and protein-bound - SH groups content and an increased proportion of free - SH groups in DMD and BMD was found. In LGMD the changes of total and protein-bound - SH groups content were less expressed. In the mdx mice muscles te content of - SH groups was generally normal, only a higher than normal proportion of free - SH groups content in old and senile animals, especially in their diaphragm, was present. To test the sercolemmal integrity, albumin/creatine kinase (CK) influx/efflux was determined. In early stages of DMD and BMD the albumin influx was increased. In advanced stages of these diseases albumin influx was not observed. In LGMD albumin penetration was present only in a few fibres. CK efflux in vitro was incrased both in early and advanced DMD cases. IN BMD adn LGMD CK efflux was increased only in early stages of the diseases. In mdx mice an increased influx/efflux of albumin/CK was stated in adult animals. The changes persisted in the mdx mice an increased influx/efflux...

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