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    Wyświetlanie 1-3 z 3
    Tytuł:
    Optimization of the Y831C mutation detection in human DNA polymerase gamma by allelic discrimination assay
    Autorzy:
    Stopińska, Katarzyna
    Grzybowski, Tomasz
    Malyarchuk, Boris
    Derenko, Miroslava
    Miścicka-Śliwka, Danuta
    Powiązania:
    https://bibliotekanauki.pl/articles/1041222.pdf
    Data publikacji:
    2006
    Wydawca:
    Polskie Towarzystwo Biochemiczne
    Tematy:
    real-time PCR
    polymerase γ
    progressive external ophthalmoplegia
    single nucleotide polymorphisms (SNPs)
    Opis:
    Many well-defined mutations in the gene for the catalytic subunit of polymerase γ (POLG1) have been found to be associated with disease, whereas the status of several mutations remains unresolved due to the conflicting reports on their frequencies in populations of healthy individuals. Here, we have developed a highly sensitive, real-time allelic discrimination assay enabling detection of the Y831C mutation in the POLG1 gene. The Y831C mutation is present in the Polish population at a frequency of 2.25%. The new assay is well suited to both extensive population studies and molecular diagnostics of POLG1.
    Źródło:
    Acta Biochimica Polonica; 2006, 53, 3; 591-595
    0001-527X
    Pojawia się w:
    Acta Biochimica Polonica
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Normal levels of serum pancreatic enzymes in patients with progressive familial intrahepatic cholestasis type 2
    Autorzy:
    Walkowiak, Jaroslaw
    Jankowska, Irena
    Lisowska, Aleksandra
    Biczysko, Maciej
    Wierzbicka, Aldona
    Pawłowska, Joanna
    Powiązania:
    https://bibliotekanauki.pl/articles/1042733.pdf
    Data publikacji:
    2010
    Wydawca:
    Polskie Towarzystwo Biochemiczne
    Tematy:
    pancreatitis
    pancreatic enzymes
    lipase
    progressive familial intrahepatic cholestasis type 2
    elastase-1
    Opis:
    Introduction. High prevalence of elevated serum pancreatic enzymes in children with cholestasis with normal fecal elastase-1 concentrations has been documented. However, this state is related predominantly to biliary atresia. Therefore, we aimed to assess pancreatic damage by measuring serum pancreatic enzymes in patients with progressive familial intrahepatic cholestasis type 2 (PFIC type 2). Materials and methods. Twenty PFIC type 2 patients with normal serum bilirubin and bile acid concentrations were included in the study. Thirty pancreatic insufficient cystic fibrosis (PI-CF) patients, thirty patients with acute pancreatitis (AP) and thirty healthy subjects (HS) served for the purpose of comparison. In all subjects, serum lipase and elastase-1 levels were measured. Results. In all but one PFIC type 2 patients and all HS normal lipase activities were found. Serum elastase-1 concentrations were normal in all PFIC type 2 patients and HS. The enzyme levels were very similar in both groups studied. Lipase activities in PFIC type 2 patients were significantly higher than in PI-CF patients (p < 0.00001) and lower than in patients with AP (p < 0.00001). Serum elastase-1 levels in PFIC type 2 patients were significantly lower than in patients with AP (p < 0.00001) and not different from those in PI-CF patients. In conclusion. serum pancreatic enzymes in patients with PFIC type 2 are normal. No pancreatic damage in these patients could be detected.
    Źródło:
    Acta Biochimica Polonica; 2010, 57, 4; 573-575
    0001-527X
    Pojawia się w:
    Acta Biochimica Polonica
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Small intestinal bacterial overgrowth in patients with progressive familial intrahepatic cholestasis
    Autorzy:
    Lisowska, Aleksandra
    Kobelska-Dubiel, Natalia
    Jankowska, Irena
    Pawłowska, Joanna
    Moczko, Jerzy
    Walkowiak, Jarosław
    Powiązania:
    https://bibliotekanauki.pl/articles/1039343.pdf
    Data publikacji:
    2014
    Wydawca:
    Polskie Towarzystwo Biochemiczne
    Tematy:
    small intestinal bacterial overgrowth
    progressive familial intrahepatic cholestasis
    hydrogen-methane breath test
    Opis:
    Background & Aims: To date, no studies concerning the presence of small intestinal bacterial overgrowth in patients with progressive familial intrahepatic cholestasis were published. Based upon characteristic of progressive familial intrahepatic cholestasis one can expect the coexistence of small intestinal bacterial overgrowth. The aim of the study was to assess the incidence of small intestinal bacterial overgrowth in patients with progressive familial intrahepatic cholestasis. Methods: 26 patients aged 8 to 25 years with progressive familial intrahepatic cholestasis were included in the study. Molecular analysis of ABCB11 gene was performed in the vast majority of patients. In all patients Z-score for body weight and height, biochemical tests (bilirubin, bile acid concentration, fecal fat excretion) were assessed. In all patients hydrogen-methane breath test was performed. Results: On the basis of first hydrogen-methane breath test, diagnosis of small intestinal bacterial overgrowth was confirmed in 9 patients (35%), 5 patients (19%) had borderline results. The second breath test was performed in 10 patients: in 3 patients results were still positive and 2 patients had a borderline result. The third breath test was conducted in 2 patients and positive results were still observed. Statistical analysis did not reveal any significant correlations between clinical, biochemical and therapeutic parameters in patients with progressive familial intrahepatic cholestasis and coexistence of small intestinal bacterial overgrowth. Conclusions: Our results suggest that small intestinal bacterial overgrowth is frequent in patients with progressive familial intrahepatic cholestasis. Moreover, it seems that this condition has the tendency to persist or recur, despite the treatment.
    Źródło:
    Acta Biochimica Polonica; 2014, 61, 1; 103-107
    0001-527X
    Pojawia się w:
    Acta Biochimica Polonica
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
      Wyświetlanie 1-3 z 3

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