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Wyświetlanie 1-6 z 6
Tytuł:
Endocrine disorders in patients with hereditary hemochromatosis
Autorzy:
Banaszkiewicz, Katarzyna
Sikorska, Katarzyna
Sworczak, Krzysztof
Powiązania:
https://bibliotekanauki.pl/articles/895739.pdf
Data publikacji:
2019-02-05
Wydawca:
Gdański Uniwersytet Medyczny
Tematy:
Diabetes Mellitus
Osteoporosis
endocrinology
iron overload
hemochromatosis
Opis:
Hereditary hemochromatosis (HH) is a rare genetic disorder, developing secondary to the accumulation of iron in tissues, which may lead to multiple organ failure. If untreated, it may result in liver cirrhosis or cardiomyopathy. The damage to the pancreas and the anterior pituitary, on the other hand, leads to a decreased production and secretion of hormones that are essential to life. Common symptoms of HH, that are distressing for patients, include joint pain, particularly involving hands and wrists, as well as the chronic fatigue syndrome. Iron overload affects the skeletal system, leading to osteoporosis. The pathological accumulation of iron in the anterior pituitary impairs the gonadotropin synthesis, resulting in reduced serum levels of testosterone in men and estrogens in women. This, however, contributes to lower bone mass. In vivo tests have also revealed that abnormal iron accumulation is related to an increased activity and number of osteoclasts, as well as the influence on the differentiation and activity of osteoblast-lineage cells. Based on a systematic review of literature, hereditary hemochromatosis (HH) will be presented as a chronic disease, affecting most of the endocrine glands.
Źródło:
European Journal of Translational and Clinical Medicine; 2018, 1, 2; 72-76
2657-3148
2657-3156
Pojawia się w:
European Journal of Translational and Clinical Medicine
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Diagnosis and treatment difficulties in 18-year-old male patient with hereditary hemochromatosis, chronic hepatitis B, Gilbert syndrome and ulcerative colitis
Autorzy:
Sikorska, Katarzyna
Liberek, Anna
Romanowski, Tomasz
Szlagatys-Sidorkiewicz, Agnieszka
Landowski, Piotr
Bielawski, Krzysztof
Powiązania:
https://bibliotekanauki.pl/articles/1039929.pdf
Data publikacji:
2011
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
hereditary hemochromatosis
ulcerative colitis
chronic hepatitis B
Glibert syndrome
Opis:
Among possible causes of chronic hepatitis in adolescents most common are infections, autoimmune disorders and metabolic diseases. Thus, diagnostic procedures should be multidirectional. This study reports diagnosis and treatment difficulties in an 18-year-old male patient with hereditary hemochromatosis (HH), ulcerative colitis (UC), chronic hepatitis B (CHB) and Gilbert syndrome. The presented case illustrates problems in diagnostics related to the presence of numerous disease conditions in one patient. It should be taken into consideration that these diseases coexisting in one patient can mutually affect their symptoms creating specific diagnostic difficulties.
Źródło:
Acta Biochimica Polonica; 2011, 58, 2; 251-254
0001-527X
Pojawia się w:
Acta Biochimica Polonica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Does the age of patients with hereditary hemochromatosis at the moment of their first diagnosis have an additional effect on the standard echocardiographic parameters?
Autorzy:
Rozwadowska, Katarzyna
Daniłowicz-Szymanowicz, Ludmiła
Fijałkowski, Marcin
Sikorska, Katarzyna
Szymanowicz, Wiktor
Lewicka, Ewa Katarzyna
Raczak, Grzegorz
Powiązania:
https://bibliotekanauki.pl/articles/895761.pdf
Data publikacji:
2018-09-28
Wydawca:
Gdański Uniwersytet Medyczny
Tematy:
age
echocardiography
hereditary hemochromatosis
Opis:
Background: Hereditary haemochromatosis (HH) is an inherited disease in which gene mutation leads to excessive iron absorption and accumulation in different organs, including the heart, which causes damage. Whether the age of patients with HH at the moment of their first diagnosis has an additional effect on the standard echocardiographic parameters was the aim of the study. Material and methods: We prospectively enrolled 20 HH patients, and 20 healthy age- and sex-matched volunteers. Analysis of standard echocardiographic parameters was performed and compared in subgroups of ≥50 and <50 years old (yo). Results: Comparing HH patients with healthy volunteers in ≥50 yo subgroup, significant differences were found in parameters regarding diastolic function (IVS thickness, LVM index, Em, E/Em, PV S/D, LAA index and LAV index). In the <50 yo subgroup we did not find the abovementioned differences, however LVEF appeared to be lower in the HH patients. Conclusions: Despite the lack of clinical symptoms of cardiovascular disease and the lack of deviations in the standard echocardiographic examination, there were a number of differences regarding LV diastolic function parameters in HH patients ≥50 yo, whereas differences regarding LV systolic function were more prominent in HH patients <50 yo when compared with healthy subjects.
Źródło:
European Journal of Translational and Clinical Medicine; 2018, 1, 1; 20-25
2657-3148
2657-3156
Pojawia się w:
European Journal of Translational and Clinical Medicine
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Brain Functional Asymmetry of Chimpanzees (Pan troglodytes): the Example of Auditory Laterality
Autorzy:
Szymańska, Justyna
Trojan, Maciej
Jakucińska, Anna
Wejchert, Katarzyna
Kapusta, Maciej
Sikorska, Julia
Powiązania:
https://bibliotekanauki.pl/articles/2128605.pdf
Data publikacji:
2017
Wydawca:
Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:
auditory laterality
chimpanzee behaviour
functional asymmetry
lateralization
orientation reaction
Opis:
The aim of this study was to verify whether chimpanzees (Pan troglodytes) demonstrate an auditory laterality during the orientation reaction, and which hemisphere is responsible for processing the emotional stimuli and which for the species-specific vocalizations. The study involved nine chimpanzees from the Warsaw Municipal Zoological Garden. They were tested individually in their bedrooms. Chimpanzees approached a tube filled with food, located in the centre of the cage. Randomly selected sounds were played from the speakers when the subject was focused on getting food. Individual reactions were observed and outcomes reported. The four types of sound used: thunderstorm, dog barking, chimpanzee vocalization and a zoo-keeper’s voice. To test whether chimpanzees demonstrate auditory laterality we used a single sample X2 test. The existence of auditory laterality has been confirmed. The sound of the storm caused the orientation reaction to the left, while chimpanzee vocalization – to the right. On this basis we can conclude that among chimpanzees, arousing stimuli are being processed by the right hemisphere, and species-specific vocalizations by the left. However, the set of stimuli was limited so the study did not unequivocally resolve this issue.
Źródło:
Polish Psychological Bulletin; 2017, 1; 87-92
0079-2993
Pojawia się w:
Polish Psychological Bulletin
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Association between uridin diphosphate glucuronosylotransferase 1A1 (UGT1A1) gene polymorphism and neonatal hyperbilirubinemia
Autorzy:
Mazur-Kominek, Katarzyna
Romanowski, Tomasz
Bielawski, Krzysztof
Kiełbratowska, Bogumiła
Preis, Krzysztof
Domżalska-Popadiuk, Iwona
Słomińska-Frączek, Magdalena
Sznurkowska, Katarzyna
Renke, Joanna
Plata-Nazar, Katarzyna
Śledzińska, Karolina
Sikorska-Wiśniewska, Grażyna
Góra-Gębka, Magdalena
Liberek, Anna
Powiązania:
https://bibliotekanauki.pl/articles/1038662.pdf
Data publikacji:
2017
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
UGT1A1 gene
polymorphism
hyperbilirubinemia
neonates
Opis:
Objective: To assess the prevalence of UGT1A1*28 and UGT1A1*60 polymorphisms of UGT1A1 gene and their association with hyperbilirubinemia. Study design: The study was performed at a single centre - at the Department of Obstetrics of the Medical University of Gdansk in Poland. DNA was isolated from Guthrie cards of 171 infants. Only full term newborns (gestational age 38-42 weeks) were included in the study. Fluorescent molecular probes were used for UGT1A1 promoter variation analysis. The presence of UGT1A1*28 polymorphism was detected with a dual-probe system, and UGT1A1*60 with a SimpleProbe™. Result: Homozygous UGT1A1*28 and UGT1A1*60 genotypes were detected in 14.6% and 20.5% of the newborns, respectively. Homozygous (G/G) genotypes of UGT1A1*60 polymorphism were found in all of the UGT1A1*28 (i.e. (TA)7/(TA)7) homozygotes. More than 80% (55/66) of the children with "wild" type UGT1A1*28 genotype (where no polymorphism was detected) (i.e. (TA)6/(TA)6) carried the "wild" (T/T) genotype of UGT1A1*60 as well. The UGT1A1*28 polymorphism was detected more often among neonates with elevated bilirubin. Hyperbilirubinemia was diagnosed more frequently in boys. Conclusion: Polymorphisms of the UGT1A1 gene frequently co-exist in neonates. The presence of UGT1A1*28 polymorphism and male gender seem to predispose to neonatal hyperbilirubinemia.
Źródło:
Acta Biochimica Polonica; 2017, 64, 2; 351-356
0001-527X
Pojawia się w:
Acta Biochimica Polonica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Clinical parameters of inflammatory bowel disease in children do not correlate with four common polymorphisms of the transforming growth factor β1 gene
Autorzy:
Liberek, Anna
Jakóbkiewicz-Banecka, Joanna
Kloska, Anna
Świderska, Joanna
Kmieć, Zbigniew
Łuczak, Grażyna
Wierzbicki, Piotr
Liberek, Tomasz
Marek, Krzysztof
Plata-Nazar, Katarzyna
Sikorska-Wiśniewska, Grażyna
Kamińska, Barbara
Węgrzyn, Grzegorz
Powiązania:
https://bibliotekanauki.pl/articles/1039871.pdf
Data publikacji:
2011
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
pediatric patients
gene polymorphism
Transforming growth factor β1
inflammatory bowel disease
Opis:
Transforming growth factor β1 (TGF-β1) is a cytokine affecting cell proliferation and development, which also has an immunomodulatory activity. Correlations between polymorphisms of the TGF-β1 gene and clinical parameters of inflammatory bowel disease (IBD) were reported previously in adults. Here, we tested whether such correlations occur in pediatric patients suffering from IBD. One hundred and four pediatric IBD patients were involved in this study. Among them, 36 were diagnosed with Crohn's Disease (CD) and 68 were diagnosed with ulcerative colitis (UC). The control group consisted of 103 children, in which IBD was excluded. TGF-β1 levels were determined in plasma and intestinal mucosa samples. The presence of the TGF β1 protein and the amount of TGF β1 mRNA were estimated in intestinal mucosa by immunohistochemistry and reverse transcription Real-Time PCR, respectively. Four common polymorphisms of the TGF-β1 gene were investigated: -800G/A, -509C/T, 869T/C and 915G/C. No significant correlation between TGF-β1 genotypes and (i) TGF-β1 levels in plasma and tissue samples, (ii) TGF-β1 gene expression efficiency in intestinal mucosa, (iii) IBD clinical parameters and (iv) inflammatory activity could be detected in children suffering from IBD. We conclude that, contrary to previous suggestions, the four common polymorphisms of the TGF-β1 gene do not influence the susceptibility to or clinical parameters of IBD in the tested population of children.
Źródło:
Acta Biochimica Polonica; 2011, 58, 4; 641-644
0001-527X
Pojawia się w:
Acta Biochimica Polonica
Dostawca treści:
Biblioteka Nauki
Artykuł
    Wyświetlanie 1-6 z 6

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