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1
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Nadmierne gromadzenie żelaza w organizmie - realne zagrożenie dla zdrowia człowieka?

100%
Sikorska K.
Kosmos
|
2014
|
vol. 63
|
issue 3
315-323
PL
Zdrowie człowieka zależy od właściwej zawartości żelaza w organizmie. Wobec braku mechanizmów regulujących wydalanie żelaza, pozwalających na dostosowanie wewnątrzustrojowych zasobów pierwiastka do zapotrzebowania na niego, nadmierne gromadzenie żelaza stać się może realnym zagrożeniem dla prawidłowego funkcjonowania wielu narządów. Patologiczne gromadzenie żelaza u człowieka może mieć charakter wrodzony, uwarunkowany genetycznie lub nabyty. Hemochromatoza dziedziczna to choroba o bogatej symptomatologii klinicznej, która rozwija się na skutek stopniowego odkładania żelaza w komórkach miąższowych wielu narządów (wątroby, trzustki, serca, gonad, przysadki mózgowej), co prowadzi do ich postępującego uszkodzenia. Podłożem genetycznym tej choroby są mutacje co najmniej pięciu różnych genów, kodujących białka i peptydy regulujące gospodarkę żelazem. Spośród nich, za ponad 80% przypadków dziedzicznej hemochromatozy w populacji kaukaskiej odpowiadają mutacje genu HFE. Nadmierne gromadzenie żelaza może mieć też charakter wtórny do innych chorób, wrodzonych lub nabytych. Rozwija się w przebiegu niedokrwistości, wymagających licznych przetoczeń krwi oraz może towarzyszyć niektórym przewlekłym chorobom wątroby, w tym przewlekłemu wirusowemu zapaleniu wątroby typu C, niealkoholowej chorobie stłuszczeniowej wątroby, alkoholowej chorobie wątroby i porfiriom wątrobowym. W badaniach, poświęconych analizie powiązań patologicznej akumulacji żelaza ze zjawiskami chorobowymi, szczególne miejsce zajmują doniesienia wskazujące na zależność mechanizmów karcynogenezy od zaburzeń regulacji homeostazy żelaza. Następstwem takich zaburzeń może być zwiększone ryzyko zachorowania na niektóre choroby nowotworowe.
EN
Human health depends on the proper content of iron in the body. In the absence of mechanisms regulating the excretion of iron, which allow the adjustment of endogenous resources to the demand for it, accumulation of iron can become a real threat to the proper functioning of many organs. In humans, i ron overload may have different origin: innate, genetically determined or acquired. Hereditary hemochromatosis is a disease with a rich clinical symptomatology, which develops due to the gradual accumulation of iron in the parenchymal cells of many organs (liver, pancreas, heart, gonads, pituitary gland), and leads to their progressive damage. Mutations of five different genes, encoding proteins and peptides regulating iron homeostasis, form the genetic basis of this disease. Among them, over 80% of cases of hereditary hemochromatosis in Caucasian populations are associated with the HFE gene mutations. Excessive iron accumulation may also develop secondary to other diseases, congenital or acquired. Iron overload is diagnosed in chronic anemia requiring multiple transfusions and may accompany some chronic liver diseases, including chronic viral hepatitis C, non-alcoholic fatty liver disease, alcoholic liver disease and hepatic porphyrias. Many studies are devoted to the analysis of links between the pathological iron accumulation and morbidity. The association of carcinogenesis mechanisms with dysregulation of iron homeostasis seems to be especially interesting. Results of population studies bring some evidence for increased risk of development of certain cancers related to iron overload.
2
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Endocrine disorders in patients with hereditary hemochromatosis

51%
Banaszkiewicz K., Sikorska K., Sworczak K.
|
2019
|
vol. 1
|
issue 2
72-76
EN
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.
3
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Endocrine disorders in patients with hereditary hemochromatosis

51%
Banaszkiewicz K., Sikorska K., Sworczak K.
|
EN
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.
4
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Does the age of patients with hereditary hemochromatosis at the moment of their first diagnosis have an additional effect on the standard echocardiographic parameters?

39%
Rozwadowska K., Daniłowicz-Szymanowicz L., Fijałkowski M., Sikorska K., Szymanowicz W., Lewicka E. K., Raczak G.
|
2018
|
vol. 1
|
issue 1
20-25
EN
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.
5
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Does the age of patients with hereditary hemochromatosis at the moment of their first diagnosis have an additional effect on the standard echocardiographic parameters?

39%
Rozwadowska K., Daniłowicz-Szymanowicz L., Fijałkowski M., Sikorska K., Szymanowicz W., Lewicka E. K., Raczak G.
European Journal of Translational and Clinical Medicine
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2018
|
vol. 1
|
issue 1
20-25
EN
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.
6
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The rapid interphase chromosome assay (RICA) implementation: comparison with other PCC methods

39%
Sommer S., Buraczewska I., Sikorska K., Bartłomiejczyk T., Szumiel I., Kruszewski M.
|
|
issue 4
933-941
EN
A report is presented on the advantages of the rapid interphase chromosome assay (RICA) and the difficulties that may be met while implementing this method for application in biological dosimetry. The RICA test can be applied on unstimulated human lymphocytes; this is an advantage in comparison with the dicentric chromosomes or micronucleus tests. In the former two tests, stimulated lymphocytes are examined and hence, 48 h more are needed to obtain cells traversing the cell cycle. Due to the use of unstimulated nondividing cells, higher numbers of cells are available for RICA analysis than for dicentric chromosomes or micronuclei tests. Moreover, the method can be applied after exposure to ionizing radiation doses in excess of 5 Gy. Such doses cause a significant cell cycle delay or result in the loss of G2 phase and mitotic cells because of apoptosis. Therefore, the traditional biodosimetry based on the evaluation of the incidence of damage to chromosomes is very difficult to carry out. This is due to the lack of an adequate number of mitotic cells for analysis. RICA is free of this disadvantage. An automatic microscope can be used to retrieve cell images; automatic image analysis can also be used.
7
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Diagnosis and treatment difficulties in 18-year-old male patient with hereditary hemochromatosis, chronic hepatitis B, Gilbert syndrome and ulcerative colitis

39%
Sikorska K., Liberek A., Romanowski T., Szlagatys-Sidorkiewicz A., Landowski P., Bielawski K.
|
EN
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.
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