TEKA
Komisji Nauk Medycznych VI/2018.
Commission of Medical Sciences

Spis treści - plik PDF

Redakcja - plik PDF

SPONTANEOUS CHROMOSOME ABNORMALITIES IN ATM- AND NBS1-DEFICIENT LYMPHOCYTES IN VITRO - pełny artykuł (full article) - plik PDF

Hayane Akopyan 1; Nataliya Huleyuk 2, Galina Bezkorovaina 2

1 Institute of Experimental and Clinical Medicine, University of Rzeszow, Rzeszow, Poland
2 Institute of Hereditary Pathology of National Academy of Medical Sciences of Ukraine, Lviv, Ukraine


S u m m a r y.The frequency and typical features of spontaneous chromosome instability in the lymphocytes in vitro of patients with verified Nijmegen breakage syndrome (NBS) and ataxia-telangiectasia (A-T) were evaluated. Low mitotic index was noted in 39% of 23 cases, whereas 7 patients with NBS and 7 with A-T were karyotyped successfully with special reference to structural chromosomal abnormalities, premature chromatid separation (PCS) and polyploidy. About 12% of NBS1 and ATM deficient lymphocytes exhibited chromosomal type aberrations with particularly high incidence of inv(7)(p13:q35), t(7;14)(q35;q11), t(7;14)(p13;q11), t(7;7) (p13;q35), t(7p13;14q32), del(7)(q35), del(14)(q11). The chromosomes 1, 3, 8 and 9 were also often targeted. Each 3rd break was located in centromeric or near-centromeric regions. The significant incidence of cells with premature chromatid separation and polyploidy was also noted. The results allow suspect non-random association between increased chromosomal instability in heterochromatin regions and both PCS and polyploidy in NBS1 and A-T deficient cells with special reference to increased risk of cancer.
K e y w o r d s: : Nijmegen breakage syndrome, ataxia-telangiectasia, chromosome instability




CANCER DISEASES, TREATMENT AND CAUSES OF CHEMOTHERAPY FAILURES pełny artykuł (full article) - plik PDF

Dariusz Polański1, Anna Makuch-Kocka2, Anna Gruchała1, Monika Tkaczewska1, Izabela Harasymiak-Krzyżanowska1, Renata Kaczmarczyk1, Daniel Parulski3, Andrzej Kępa4, Marcin Kocki5, Marcin Czop1, Karol Ruszel1, Patrycja Reszka5, Anna Huk1, Izabela Młynarczyk1, Dominika Guz1, Joanna Wawer1, Janusz Kocki1, Dariusz Gałkowski1,7, Anna Bogucka-Kocka6

1 Department of Clinical Genetics, Chair of Medical Genetics, Medical University of Lublin, Lublin, Poland
2 Department of Pharmacology, Faculty of Health Sciences, Medical University of Lublin, Lublin, Poland
3 Simbesco Polska sp. z o.o., Janin 21, 83-207 Kokoszkowy
4 Independent Public Teaching Hospital No 4 in Lublin, Lublin, Poland
5 Student Research Group, Department of Clinical Genetics, Chair of Medical Genetics, Medical University of Lublin, Lublin, Poland
6 Chair and Department of Biology and Genetics, Faculty of Pharmacy with Medical Analytics Division, Medical University of Lublin, Lublin, Poland
7 Dept. of Pathology and Laboratory Medicine, Rutgers Robert Wood Johnson Medical School, Medical Education Building – 212, One Robert Wood Johnson Place, New Brunswick, NJ 08903-0019, USA


S u m m a r y. Achieving therapeutic success in the form of remission of changes requires a previously planned strategy. Anticancer treatment regimens are flexible, and are modified along with scientific and technical progress. Chemotherapy is used as an independent treatment, it can also be part of combination therapy as complementary chemotherapy, in order to destroy the remaining tumor foci after surgical treatment.
K e y w o r d s: cancer, chemotherapy




GENE THERAPY- pełny artykuł (full article) - plik PDF

Dariusz Polański1, Anna Makuch-Kocka2, Monika Tkaczewska1, Izabela Harasymiak-Krzyżanowska1, Daniel Parulski3, Andrzej Kępa4, Renata Kaczmarczyk1, Anna Gruchała1, Marcin Kocki5, Patrycja Reszka5, Marcin Czop1, Karol Ruszel1, Anna Huk1, Izabela Młynarczyk1, Dominika Guz1, Joanna Wawer1, Janusz Kocki1, Dariusz Gałkowski1, 7, Anna Bogucka-Kocka6

1 Department of Clinical Genetics, Chair of Medical Genetics, Medical University of Lublin, Lublin, Poland
2 Department of Pharmacology, Faculty of Health Sciences, Medical University of Lublin, Lublin, Poland
3 Simbesco Polska sp. z o.o., Janin 21, 83-207 Kokoszkowy
4 Independent Public Teaching Hospital No 4 in Lublin, Lublin, Poland
5 Student Research Group, Department of Clinical Genetics, Chair of Medical Genetics, Medical University of Lublin, Lublin, Poland
6 Chair and Department of Biology and Genetics, Faculty of Pharmacy with Medical Analytics Division, Medical University of Lublin, Lublin, Poland
7 Dept. of Pathology and Laboratory Medicine, Rutgers Robert Wood Johnson Medical School, Medical Education Building – 212, One Robert Wood Johnson Place, New Brunswick, NJ 08903-0019, USA


S u m m a r y. Gene therapy is a new method of treatment of genetic diseases involving a variety of effects on the patient’s genetic material. The work on genetic therapy gives hope for effective therapies of many diseases that are currently considered incurable. The delivery of genetic material to the cell may take place using two methods: direct method – it consists in infecting into the tissues genetic material in the form of a solution of plasmid DNA in physiological saline. This procedure, carried out only In vivo, may cause slight inflammatory reactions at the injection site, the advantage is the ease of performing the procedure and the low cost of producing plasmids. Indirect methods can be divided into three groups: biochemical, biological and physical methods. In gene therapy, the target for antisense nucleotides seems to be genes related to the neoplastic process, especially those that are overexpressed and should be silenced during treatment.
K e y w o r d s: gene therapy, antisense nucleotides DNA vaccine




MULTIDRUG RESISTANCE OF TUMOR CELLS pełny artykuł (full article) - plik PDF

Dariusz Polański1, Anna Makuch-Kocka2, Marcin Czop1, Karol Ruszel1, Monika Tkaczewska1, Izabela Harasymiak-Krzyżanowska1, Daniel Parulski3, Andrzej Kępa4, Renata Kaczmarczyk1, Anna Gruchała1, Marcin Kocki5, Patrycja Reszka5, Dariusz Gałkowski1, 7, Anna Huk1, Izabela Młynarczyk1, Dominika Guz1, Joanna Wawer1, Janusz Kocki1, Anna Bogucka-Kocka6

1 Department of Clinical Genetics, Chair of Medical Genetics, Medical University of Lublin, Lublin, Poland
2 Department of Pharmacology, Faculty of Health Sciences, Medical University of Lublin, Lublin, Poland
3 Simbesco Polska sp. z o.o., Janin 21, 83-207 Kokoszkowy
4 Independent Public Teaching Hospital No 4 in Lublin, Lublin, Poland
5 Student Research Group, Department of Clinical Genetics, Chair of Medical Genetics, Medical University of Lublin, Lublin, Poland
6 Chair and Department of Biology and Genetics, Faculty of Pharmacy with Medical Analytics Division, Medical University of Lublin, Lublin, Poland
7 Dept. of Pathology and Laboratory Medicine, Rutgers Robert Wood Johnson Medical School, Medical Education Building – 212, One Robert Wood Johnson Place, New Brunswick, NJ 08903-0019, USA


S u m m a r y. Multidrug resistance (MDR) developing during cancer chemotherapy is a clinically significant problem contributing to the failure of systemic cancer therapy, the result of which is the observable increase in the morality of patients. ABC transporters (ATP-binding cassette family) is one of the most numerous categories of proteins found in eukaryotic organisms, it contains the majority of multidrug resistant proteins. The proteins of the ABC family occur in various tissues (e.g. lungs, placenta, intestine, brain, heart, kidneys), and their main task is to transport drugs from the cell to the extracellular environment, which leads to a significant reduction in the intracellular concentration of the drug. According to current scientific knowledge, there are three generations of P-gp protein modulators. The first generation includes such pharmacological specimen as cyclosporin A and verapamil. The second generation – the specimens of this group are characterized by higher efficacy and lower toxicity compared to the I generation drugs, but they are not free from side effects. The third generation – specimens are characterized by high specificity towards P glycoprotein and do not affect the function of other transport proteins.
K e y w o r d s: multidrug resistance, tumor cells




EPIGENETIC FACTORS INVOLVED IN AUTISM SPECTRUM DISORDERS- pełny artykuł (full article) - plik PDF

Joanna Wawer1, Genowefa Anna Wawer2, Janusz Kocki1

1 Department of Clinical Genetics, Chair of Medical Genetics, Medical University of Lublin, Lublin, Poland
2 Department of Foreign Languages, Medical University of Lublin, Lublin, Poland


S u m m a r y. Autism spectrum disorders (ASD) are a group of neurodevelopmental disorders manifested by impaired social interaction, deficits in verbal and nonverbal communication, and restricted, repetitive patterns of stereotyped behaviors and interests. The investigation of genetic risk associated with ASD has found that 74–93% of ASD risk is heritable. Prospective studies of infant siblings at familial high-risk of ASD provide evidence for regression, and subtle loss of skills in a larger proportion of children with ASD than previously assumed. Despite extensive genetic and biological research, there is no significant understanding of the specific mechanisms of ASD pathogenesis. There is much evidence suggesting the involvement of epigenetic modifications as basic for ASD development. Epigenetic modifications or altered DNA transcription via variations in DNA methylation and histone modifications but without alterations in the DNA sequence affect gene regulation which produces altered gene expression manifested as DNA methylation and/or histone modifications. Epigenetic dysregulation may account for a significant proportion of ASD cases. Specific chromosomal regions have been identified in autism susceptibility loci, however the results have been inconclusive. There is no single gene which can account for ASD. Genetic research in the nearest future will allow for better understanding of how gene-environmental interactions create autistic symptoms, and should facilitate the development of novel therapeutic targets of gene expression for ASD. Genetic testing has the potential to provide medical explanation for ASD in children. Screening studies can identify concomitant medical problems, improve prognosis, and group families in specific support organizations.
K e y w o r d s: epigenetics, autism spectrum disorders, epigenetic dysregulation



INFANT ANOREXIA AS A FEEDING DISORDER OF INFANCY pełny artykuł (full article) - plik PDF

Milena Skrętowicz 2, Magdalena Dubel 2, Wanda Furmaga-Jabłońska 1,2

1 Department of Neonate and Infant Pathology, Medical University of Lublin, 20-059 Lublin, Racławickie 1 Str., Poland 2 University Children’s Hospital, Gębali 6 Str., 20-093 Lublin, Poland



S u m m a r y. Infantile anorexia was differentiated from inorganic eating disorders by Irene Chatoor, professor of Psychiatry and Pediatrics at the George Washington University, a world-renowned expert in the diagnosis and treatment of childhood feeding difficulties. Infantile anorexia nervosa is an eating disorder that has its onset during the early developmental stage of separation and individuation between the first six months and three years of life. In some cases, feeding difficulties are related to psychological factors, e.g. an incorrect relationship between the child and their carers. Pediatricians must consider the consistency of meal, the age and abilities of the child, abnormal behaviors and habits related to feeding the child, and disturbed parent-child interaction.
K e y w o r d s: infant anorexia, feeding disorder.



EFFECTIVENESS OF A NEW HERBAL AGENT IN THE CONDITIONS OF EXPERIMENTAL MEDICINAL HEPATITIS pełny artykuł (full article) - plik PDF

Oleg Gerush 1, Larysa Yakovleva 2, Oksana Mishchenko 2, Igor Gerush 1

1 Department of Pharmacy, Department of Bioorganic and Biological Chemistry and Clinical Biochemistry, Higher State Educational Establishment of Ukraine “Bukovinian State Medical University”, 2 Teatralna Sq., 58002 Chernivtsi, Ukraine
2 Department of Pharmacoeconomics, National University of Pharmacy, Kharkiv, Ukraine,



S u m m a r y. The objective: to study pharmacological activity of new complex plant agent granules “Polyherbagastrin” (intragastrically 900 mg/kg once daily) for hepatitis model induced by intragastric administration of aqueous suspension of tuberculostatics mixture (isoniazid 50 mg/kg, rifampicin 500 mg/kg, pyrazinamide 1500 mg/kg) within 14 days compared with the reference preparation containing extracts of Fumaria officinalis and Silybum marianum fruits (EFS) (intragastrically 35 mg/kg once per day). Hepatoprotective effect of new complex plant agent granules “Polyherbagastrin” was found. Normalizing effect of “Polyherbagastrin” on disorders of lipid levels in the blood serum, pro- and antioxidant balance was higher than the action of reference drug containing extracts of Fumaria officinalis and Silybum marianum fruits. Available pronounced hepatoprotective action substantiates the reasonability of further administration of the drug “Polyherbagastrin” to correct hepatotoxic action of anti-tuberculous agents
K e y w o r d s: experimental hepatitis, herbal remedies, hepatoprotective activity.



THE POU5F1 GENE EXPRESSION IN HUMAN LEUKEMIA CELLS pełny artykuł (full article) - plik PDF

Paulina Gil-Kulik 1, Aneta Kowal 2, Karolina Bieńko 2, Patrycja Działak 2, Andrzej Kulesza 2, Marcin Mazurek 2, Elżbieta Kulec 2, Agnieszka Dziarmaga 2, Aleksandra Madej 2, Dorota Filipczak 2, Piotr Chomik 1, Joanna Wawer 1, Genowefa Anna Wawer 3, Maria Cioch 4, Mariusz Jojczuk 5, Adam Nogalski 5, Janusz Kocki1

1 Department of Clinical Genetics, Medical University of Lublin, Poland 2 Students Scientific Society of Clinical Genetics, Medical University of Lublin, Poland
3 Department of Foreign Languages Medical University of Lublin, Lublin, Poland
4 Chair and Department of Hematooncology and Bone Marrow Transplantation, Medical University of Lublin, Poland
5 Chair and Department of Trauma Surgery and Emergency Medicine, Medical University of Lublin



S u m m a r y. Myeloid leukemia’s are heterogenic group of neoplastic diseases with different course, treatment and prognosis. Among cancer cells isolated from the blood of patients suffering from leukemia, a small percentage constitutes CSC, or cancer stem cell with the properties of normal stem cells. Resistance of CSC to treatment, induction of recurrence and metastasis causes that more and more research groups carry out studies on these specific cells. OCT-3/4 is POU family transcriptional factor encoded by POUF51. OCT-3/4 plays a crucial role in the regulation and maintenance of stem cell pluripotency and the generation of induced pluripotent stem cells (iPS). In our study, the test group consisted of patients diagnosed with acute myeloid leukemia and chronic lymphocytic leukemia. We showed increased expression of OCT-4 in all patient samples with the highest expression in patients suffering from Chronic Lymphatic Leukemia. AML with complex karyotype and translocation t(8;21) showed the highest expression in AML patients, then the lowest level was exhibited by cells in AML M2 and AML M4. We suggest that expression of POUF51 depends on characteristics of clinically diagnosed leukemia, and coexisting translocations.
K e y w o r d s: OCT-3/4, POUF51, CSC, leukemia, AML, CLL.



DEVELOPMENT OF AUTISM RESEARCH, ORIGIN OF THE TERM ‘AUTISM’ AND CLASSIFICATION OF AUTISM SPECTRUM DISORDERS- pełny artykuł (full article) - plik PDF

Dariusz Gałkowski1, 2, Anna Makuch-Kocka3, Marcin Kocki4, Patrycja Reszka4, Marta Romak5, Paweł Łuczyński6, Ewelina Drozd7, Grzegorz Drozd7, Joanna Wawer2, Genowefa Anna Wawer8, Rafał Toboła3, Anna Bogucka-Kocka3, Marcin Czop2, Karol Ruszel1, *Janusz Kocki2

1 Dept. of Pathology and Laboratory Medicine, Rutgers Robert Wood Johnson Medical School, Medical Education Building – 212, One Robert Wood Johnson Place, New Brunswick, NJ 08903-0019, USA
2 Department of Clinical Genetics, Chair of Medical Genetics, Medical University of Lublin, Lublin, Poland
3 Department of Pharmacology, Faculty of Health Sciences, Medical University of Lublin, Lublin, Poland
4 Student Research Group, Department of Clinical Genetics, Chair of Medical Genetics, Medical University of Lublin, Lublin, Poland
5 Chair and Department of Biology and Genetics, Faculty of Pharmacy with Medical Analytics Division, Medical University of Lublin, Lublin, Poland
6 Senior Formulation Specialist, Technological Laboratory of Liquid Dosage Forms, Warsaw
Pharmaceutical Works Polfa S.A. R&D Department, 22/24 Karolkowa St., 01-207 Warsaw, Poland
7 Chair of Chemistry, Department of Analytical Chemistry, Medical University of Lublin
8 Department of Foreign Languages, Medical University of Lublin, Lublin, Poland



S u m m a r y. Autism spectrum disorders (ASD) are a group of childhood diseases which are raising controversy and emotions, both among parents of sick children as well as researchers, epidemiologists and physicians participating in the diagnosis and treatment. The diagnostic criteria were more specific, easier to observe and classify, also stressing that such behaviors must reflect disorders of individual development. In this text the two terms are used interchangeably, because many medical and scientific circles treat the nomenclature differences as irrelevant.
K e y w o r d s: : autism spectrum disorders, classification



GENETIC FACTORS INVOLVED IN AUTISM SPECTRUM DISORDERS- pełny artykuł (full article) - plik PDF

Dariusz Gałkowski1, 2, Marta Romak3, Paweł Łuczyński4, Rafał Toboła3, Anna Makuch-Kocka5, Ewelina Drozd6, Grzegorz Drozd6, Marcin Kocki7, Patrycja Reszka7, Joanna Wawer2, Genowefa Anna Wawer8, *Janusz Kocki2, Anna Bogucka-Kocka3

1 Dept. of Pathology and Laboratory Medicine, Rutgers Robert Wood Johnson Medical School, Medical Education Building – 212, One Robert Wood Johnson Place, New Brunswick, NJ 08903-0019, USA
2 Department of Clinical Genetics, Chair of Medical Genetics, Medical University of Lublin, Lublin, Poland
3 Chair and Department of Biology and Genetics, Faculty of Pharmacy with Medical Analytics Division, Medical University of Lublin, Lublin, Poland
4 Senior Formulation Specialist, Technological Laboratory of Liquid Dosage Forms, Warsaw Pharmaceutical Works Polfa S.A. R&D Department, 22/24 Karolkowa St., 01-207 Warsaw, Poland
5 Department of Pharmacology, Faculty of Health Sciences, Medical University of Lublin, Lublin, Poland
6 Chair of Chemistry, Department of Analytical Chemistry, Medical University of Lublin
7 Student Research Group, Department of Clinical Genetics, Chair of Medical Genetics, Medical University of Lublin, Lublin, Poland
8 Department of Foreign Languages, Medical University of Lublin, Lublin, Poland



S u m m a r y. The review of the literature shows the researchers agreed that the occurrence of autism in monozygotic twins is twice as frequent as in dizygotic twins, indicating a high level of inheritance (60% -90%), and suggesting a less significant involvement of common environmental factors. Clinical and genetic heterogeneity of the disease is an important obstacle to correlate the genotype with the autistic phenotype, which in combination with the polygenic background makes linking the specific presence of clinical features to a single gene or even a set of genes very difficult.
K e y w o r d s: genetic factors, autism spectrum disorders



SYMPTOMS, CAUSES, EPIDEMIOLOGICAL DATA, AND COEXISTING DISEASES IN PATIENTS WITH AUTISM SPECTRUM DISORDERS pełny artykuł (full article) - plik PDF

Dariusz Gałkowski1, 2, Marta Romak3, Anna Makuch-Kocka4, Paweł Łuczyński5, Marcin Czop2, Karol Ruszel2, Ewelina Drozd6, Grzegorz Drozd6, Marcin Kocki7, Patrycja Reszka7, Joanna Wawer2, Rafał Toboła3, Genowefa Anna Wawer8, Anna Bogucka-Kocka3, *Janusz Kocki2,

1 Dept. of Pathology and Laboratory Medicine, Rutgers Robert Wood Johnson Medical School, Medical Education Building – 212, One Robert Wood Johnson Place, New Brunswick, NJ 08903-0019, USA
2 Department of Clinical Genetics, Chair of Medical Genetics, Medical University of Lublin, Lublin, Poland
3 Chair and Department of Biology and Genetics, Faculty of Pharmacy with Medical Analytics Division, Medical University of Lublin, Lublin, Poland
4 Department of Pharmacology, Faculty of Health Sciences, Medical University of Lublin, Lublin, Poland
5 Senior Formulation Specialist, Technological Laboratory of Liquid Dosage Forms, Warsaw Pharmaceutical Works Polfa S.A. R&D Department, 22/24 Karolkowa St., 01-207 Warsaw, Poland
6 Chair of Chemistry, Department of Analytical Chemistry, Medical University of Lublin
7 Student Research Group, Department of Clinical Genetics, Chair of Medical Genetics, Medical University of Lublin, Lublin, Poland
8 Department of Foreign Languages, Medical University of Lublin, Lublin, Poland




S u m m a r y. An expression of frustration and confusion, there are outbursts of aggression that can be misinterpreted as a signal of hostility towards the environment. Some of autistic children (about 10%), despite disorders in the development of the nervous system, can present surprising abilities, usually limited to one domain, which are equal to or outweigh the potential of a normal individual. This is called ‘savant syndrome’. The phenotypically complex syndromic forms of autism are characterized by coexisting clinical conditions such as congenital defects and dysmorphisms, microcephaly, macrocephaly and other changes. The classification and nomenclature were even more complicated when the Diagnostic and Statistical Manual of Mental Disorders-V (DSM-V) was published. Diseases from autistic spectrum were counted as one separate group, which reflected the agreement between researchers. The classification, diagnosis, and causes of the observed increase in ASD prevalence still cause a lot of controversy. Currently, genetic factors are the mainstream of research interests as they are perceived as one of the key causative factors.
K e y w o r d s: autism spectrum disorders, symptoms, epidemiology.



CORRECTION OF METABOLIC DISORDERS AND BLOOD LEPTIN WITH ATORVASTATIN AND URSODEOXYCHOLIC ACID - pełny artykuł (full article) - plik PDF

Zoryana Kit1*, Larysa Strilchuk2, Gayane Tshngryan3, Ganna Stupnytska4, Iryna Zhakun5

1* Department of Family Medicine, Danylo Halytsky Lviv National Medical University, Lviv, Ukraine
2 Department of Internal Medicine No.1 FPGE, Danylo Halytsky Lviv National Medical University, Lviv, Ukraine
3 Department of Family Medicine FPGE, Danylo Halytsky Lviv National Medical University, Lviv, Ukraine
4 Department of Internal Medicine and Infectious disease, Bukovinian State Medical University, Chernivtsi, Ukraine
5 Department of Internal Medicine No.2, Danylo Halytsky Lviv Department of Internal Medicine



S u m m a r y.Detection of blood leptin by ELISA and conventional lipid panel in 43 patients with hypertension in dynamics before and after a month of outpatient treatment with lisinoprilin combination with atorvastatin or ursodeoxycholic acid (UDCA) revealed that both drugs resulted in a significant decrease in atherogenicity of serum by reducing levels of total cholesterol and low-density lipoprotein cholesterol with an additional effect of lowering triglycerides influenced bystatin, and lowering elevated levels of leptin in a more pronounced with ursodeoxycholic acid. The decrease in total cholesterol of 6.06ą0.18 mmol/L to 5.39ą0.22 mmol/L, p<0.001; and 5.29ą0.19 mmol/L to 4.95ą0.20 mmol/L, p<0.01 and low-density lipoprotein cholesterol of 3.75ą0.20 mmol/L to 3.16ą0.23 mmol/L, p<0.05 and 3.30ą0.19 mmol/L to 2.96ą0.18 mmol/L, p<0.05 in the settings of moderate increase of high-density lipoprotein level (p>0.05 in both samples) was observed as a result of the treatment. Triglyceride concentration decreased significantly of 2.43ą0.37 mmol/L to 2.05ą0.22 mmol/L, p<0.05under the influence of atorvastatin, while the reduction in triglycerides was less pronounced when UDCA was administered (p>0.05). The study of the impact of cardiac drugs on synthesis of adipocytokinesin patients with cardiovascular damage is promising in terms of possible correction.
K e y w o r d s: atorvastatin, ursodeoxycholic acid, leptin, lipid panel



SPECTRAL STUDIES: STRUCTURAL AND FUNCTIONAL MODIFICATIONS OF OXYHEMOGLOBIN AND DEOXYHEMOGLOBIN DURING THE INTERACTION WITH NO UNDER DIABETES MELLITUS - pełny artykuł (full article) - plik PDF

Kateryna Dudok1, Volodymyra Burda1*, Mariana Liuta1, Uliana Fedorovych2, Andrii Fedorovych1, Natalia Sybirna1
1 Department of Biochemistry, Ivan Franko Lviv National University, 4, Hrushevsky Str., 79005 Lviv, Ukraine
2 Department of Laborants and Hygienic Disciplines, Andrey Krupynsky Lviv Institute of Nursing and Laboratory Medicine, 70, Doroshenko Str., 79000 Lviv, Ukraine


S u m m a r y. In vitro electronic absorption spectra of deoxyhemoglobin transition into nitrosylhemoglobin have been receiver with two characteristic absorption peaks (544.8 nm and 572.2 nm) for HbNO. The article carries the findings of the research study into the process of in vitro hemoglobin nitrosation in the norm and under experimental streptozotocin-induced diabetes mellitus (6 mg/100 g of mass). The study has revealed an increase in transition time of deoxyhemoglobin into nitrosylhemoglobin under type 1 diabetes mellitus compared with the control group. The process of in vitro deoxyhemoglobin nitrosation has been accelerated in both groups through the introduction of aminoguanidine, a selective inhibitor of inducible NO-synthase isoform, in the concentration of 1 g/1 in drinking water of test animals. Additionally the study shows that deoxyhemoglobin in rats with diabetes mellitus displays higher nitrite reductase activity compared with the control group. Aminoguanidine introduction has led to a decrease in deoxyhemoglobin nitrite reductase activity in rats with experimental diabetes mellitus.
K e y w o r d s: experimental diabetes mellitus, deoxyhemoglobin, nitrosylhemoglobin, aminoguanidine.



PROGRESSIVE SUPRANUCLEAR PALSY-PURE AKINESIA WITH GAIT FREEZING - pełny artykuł (full article) - plik PDF

Magdalena Marzęda1*, Paweł Marzęda1, Véronique Petit2, Konrad Rejdak2, Janusz Kocki3
1 Students Scientific Society of Neurology, Medical University of Lublin, Poland
2 Department of Neurology, Medical University of Lublin, Poland
3 Department of Clinical Genetics, Medical University of Lublin, Poland



S u m m a r y. Main diseases in the spectrum of atypical parkinsonism include progressive supranuclear palsy (PSP), dementia with Lewy bodies (DLB), corticobasal degeneration (CBD), and multiple system atrophy (MSA). We present a case of PSP. A 66-year-old female was admitted to the Department of Neurology for the progression of generalized motor slowing, muscular rigidity, tremor and postural instability. Levodopa was the first-line treatment introduced, and it reduced a number of freezing episodes, and improved her movements. Nevertheless, PSP as one of severe neurodegenerative diseases progresses relentlessly, and is fatal after a few years.
K e y w o r d s: progressive supranuclear palsy, atypical parkinsonism, tau protein.



OXIDATIVE – NITROSATIVE MODIFICATION OF HEMOGLOBIN IN ERYTHROCYTES OF RATS ON THE MODEL OF ALCOHOL INTOXICATION- pełny artykuł (full article) - plik PDF

Nataliia Yefimenko1*, Kateryna Dudok1, Volodymyra Burda1, Mariana Liuta1, Uliana Fedorovych2, Nataliya Sybirna1
1 Department of Biochemistry, Ivan Franko Lviv National University, 4, Hrushevsky Str., 79005 Lviv, Ukraine
2 Department of Laborants and Hygienic Disciplines, Andrey Krupynsky Lviv Institute of Nursing and Laboratory Medicine, 70, Doroshenko Str., 79000 Lviv, Ukraine



S u m m a r y. The ratio of hemoglobin ligand forms has been studied on the model of rat alcohol intoxication. The findings show an increase in methemoglobin and a decrease in oxyhemoglobin in the peripheral blood of rats. Simultaneously, there is a decrease in hemoglobin affinity with oxygen under alcohol intoxication. It is caused by the modification of protein components of haemoglobin by acetaldehyde (alcohol metabolite) and the formation of the nitrozyl form of hemoglobin. It has been also revealed that L-arginine exerts a corrigent effect on the functional state of hemoglobin under alcohol intoxication.
K e y w o r d s: erythrocytes, alcoholic intoxication, hemoglobin.



THE INFLUENCE OF SALT OF HEAVY METALS ON THE ACTIVITY OF ALKALINE PEPTIDEHYDROLASE FROM DROSOPHILA MELANOGASTER - pełny artykuł (full article) - plik PDF

Iryna Leonidivna Ryzhko1*, Oleksandr Mykhaylovych Andriyeskyi2, Sergii Anatoliyovych Petrov2
1 Department of Hydrobiology and General Ecology, Odessa I.I. Mechnykov National University, Odessa, Ukraine
2 Department of Biochemistry, Odessa I.I. Mechnykov National University, Odessa, Ukraine



S u m m a r y.The influence of salts of heavy metals on the partially purified methods of salting-out, gel chromatography and alkaline electrophoresis of trypsin-like peptidehydrolase of Drosophila larvae was studied. It has been established that the largest inhibitory effect is characterized by cadmium chloride, and the smallest is zinc chloride. The alkaline peptidehydrolase of the Normal line and the Muller-5 line are similar in molecular weight, substrate specificity and response to the negative effects of CoCl2, CuCl2, ZnCl2 ? CdCl2, and differ in pH optimum, temperature optimum and affinity to the substrate of BAPNA.
K e y w o r d s: : heavy metals, peptidehydrolase, Drosophila.



MULTIPLE SYSTEM ATROPHY: DIAGNOSTIC AND TREATMENT CHALLENGES: A CASE REPORT - pełny artykuł (full article) - plik PDF

Kośmider Kamil1, Jarosz Piotr1, Kamieniak Maciej1, Kobiałka Izabela1, Véronique Petit2, Janusz Kocki3, Konrad Rejdak2
1 Students Scientific Society of Neurology, Medical University of Lublin, Poland
2 Department of Neurology, Medical University of Lublin, Poland
3 Department of Clinical Genetics, Medical University of Lublin, Poland



S u m m a r y. Multiple System Atrophy (MSA) is a rare, fatal, primary ?-synucleinopathy that leads to multisystem neurodegeneration. MSA is the second most common form of atypical parkinsonism, after progressive supranuclear palsy. MSA is characterized by the occurrence of parkinsonian, cerebellar and autonomic symptoms of varying severity. Basing on the severity of cerebellar and parkinsonian symptoms two types of MSA are mainly distinguished: MSA-P (dominating parkinsonism) and MSA-C (predominance of cerebellar ataxia). The aim of the study is to present diagnostic and clinical problems in patients with MSA. This report presents a 50-year-old female patient suffering from worsening balance disorders, speech difficulties, head tremor, tremor of upper limbs, lower limbs muscle strength loss, paresis and ataxia of the lower limbs, memory disorders and psychomotor slowness, who was admitted to the Department of Neurology. MSA-C was diagnosed on the basis of the interview and additional tests. The prognosis in both types of MSA is poor, causative treatment is unknown and the survival time in most cases is 6-9 years.
K e y w o r d s: : multiple system atrophy, multiple system atrophy with predominance of cerebellar ataxia, cross bun sign.



MULTIPLE SYSTEM ATROPHY - ETIOLOGY, SUBTYPES AND CLINICAL PROBLEMS - pełny artykuł (full article) - plik PDF

Kośmider Kamil1*, Véronique Petit2, Kamieniak Maciej1, Jarosz Piotr1, Kobiałka Izabela1, Konrad Rejdak2, Janusz Kocki3
1 Students Scientific Society of Neurology, Medical University of Lublin, Poland
2 Department of Neurology, Medical University of Lublin, Poland
3 Department of Clinical Genetics, Medical University of Lublin, Poland



S u m m a r y.Multiple Systemic Atrophy (MSA) is a neurodegenerative disease characterized by concomitant parkinsonian symptoms of varying intensity, cerebral, autonomic and pyramidal disorders, an atrophy of neurons as well as glial cytoplasmatic ?-synuclein inclusions in the oligodendrocytes. It is a rare disease with an incidence of 3:100 000. Three types of MSA are distinguished: MSA-P (MSA with dominance of parkinsonism), MSA-C (MSA with predominance of cerebellar ataxia), and MSA-A (MSA with predominance of the autonomic system dysfunctions). The study presents a review of research reports on MSA. We focus on the literature about ?-synucleinopathy, mainly MSA-C and MSA-P. The etiology, pathogenesis and clinical problems in MSA are discussed. The last decade has brought increased interest in MSA among clinical researchers. There are many ongoing trials to better understand MSA pathogenesis, and to develop effective treatment.
K e y w o r d s: neurodegeneration, ?-synucleinopathy, multiple system atrophy.



NEUROFIBROMATOSIS TYPE II: A CASE REPORT - pełny artykuł (full article) - plik PDF

Kamieniak Maciej1 *, Kobiałka Izabela1, Kośmider Kamil1, Jarosz Piotr1, Véronique Petit2, Natalia Wolanin1, Konrad Rejdak2, Janusz Kocki3
1 Students Scientific Society of Neurology, Medical University of Lublin, Poland 2 Department of Neurology, Medical University of Lublin, Poland 3 Department of Clinical Genetics, Medical University of Lublin, Poland



S u m m a r y. Neurofibromatosis (NF) is a heterogeneous group of neurocutaneous diseases, which is generally characterized by an increased predisposition to various types of tumors of the nervous system. Neurofibromatosis type 2 (NF2) is generally less frequent than neurofibromatosis type 1 (NF1) and affects 1 in 25,000 births (approximately 10% of all patients with NF). It is caused by mutations in the NF2 gene at the locus of 22q12. NF2 is manifested by tumors in the central nervous system (CNS), especially by bilateral vestibular schwannomas, also known as acoustic neuromas (that often lead to hearing loss) and numerous meningiomas. While NF1 affects mostly the skin, peripheral nerves, eyes, and less frequently bones and internal organs, NF2 is characterized by a much worse prognosis affecting mostly CNS. In the study we report a case of a 21-year-old patient with NF2 and bilateral acoustic neuromas. The disease caused a significant degree of disability in the patient. At such a young age, he suffers from blindness, significant loss of hearing and is largely dependent on other people when it comes to daily functioning.
K e y w o r d s: neurofibromatosis, bilateral vestibular schwannomas, epilepsy.



THE ROLE OF B-VITAMINS IN NEUROLOGY - pełny artykuł (full article) - plik PDF

Julita Poleszak1, Przemysław Szabat1, Patryk Jasielski1, Véronique Petit2, Konrad Rejdak2, Janusz Kocki3
1 Students Scientific Society of Neurology, Medical University of Lublin, Poland
2 Department of Neurology, Medical University of Lublin, Poland
3 Department of Clinical Genetics, Medical University of Lublin, Poland



S u m m a r y. B-vitamins are group of water-soluble molecules, essential for metabolic processes. They are coenzymes and have pivotal role in correct functioning of the organism. The aim of this article is to present the role of B-vitamins in neurological diseases. Their deficits can have a significant impact on the nervous tissue. Neurological symptoms due to cobalamin deficit result from demyelination of the spinal nerves. Reduced activities of thiamine-dependent enzymes was found in many neurodegenerative diseases, including Wernicke-Korsakoff encephalopathy, Parkinson’s disease, Huntington’s disease, Alzheimer’s disease, as well as in paralytic syndromes. Other vitamins, whose deficit accounts for neurological disorders include vitamin B2 and B6. Studies that provide evidence for the role of B vitamins in the pathogenesis of neurodegenerative changes create an opportunity to develop new treatment strategies using vitamins.
K e y w o r d s: : B-vitamins, cobalamin, thiamine, neurology



NEUROFIBROMATOSIS - CLINICAL CHALLENGES - pełny artykuł (full article) - plik PDF

Kamieniak Maciej1*, Véronique Petit2, Kośmider Kamil1, Kobiałka Izabela1, Natalia Wolanin1, Jarosz Piotr1, Konrad Rejdak2, Janusz Kocki3
1 Students Scientific Society of Neurology, Medical University of Lublin, Poland
2 Department of Neurology, Medical University of Lublin, Poland
3 Department of Clinical Genetics, Medical University of Lublin, Poland



S u m m a r y.Neurofibromatosis (NF) is a group of inherited diseases characterized by the occurrence of tumors of the nervous system. The present article reviews scientific reports on neurofibromatosis. We focused on the literature about neurofibromatosis type I (NF1) and neurofibromatosis type II (NF2). We present etiology, genetics, clinical and diagnostic challenges in neurofibrosis. Genetic alteration in the main two variants is different, affecting chromosome 17-17q11.2 in NF1 and chromosome 22-22q12.2 in NF2. NF2 is characterized by a much worse prognosis affecting mostly the central nervous system. For NF2 mainly bilateral tumors from the Schwann cells of the vestibular nerve are characteristic. Meningiomas are often present. Generally, NF1 is more frequent than NF2 and affects mainly the skin. Patients suffering from the disease need special attention. Ideally, they should be under constant care of a team consisting of a neurosurgeon, otolaryngologist, neurologist, geneticist, and a nurse. It is expected that new therapies, especially those aimed at signaling pathways, over time will revolutionize the treatment of the disease in the future.
K e y w o r d s: neurofibromatosis type 1, neurofibromatosis type 2, central system nervous.



THE USE OF HUMAN MESENCHYMAL STEM CELLS FROM THE UMBILICAL CORD IN REGENERATIVE MEDICINE - A NOVEL THERAPY?- pełny artykuł (full article) - plik PDF

Joanna Wawer1, Genowefa Anna Wawer2, Janusz Kocki1
1 Department of Clinical Genetics, Chair of Medical Genetics, Medical University of Lublin, Lublin, Poland
2 Department of Foreign Languages, Medical University of Lublin, Lublin, Poland



S u m m a r y. Cellular therapies and cell biopharmaceuticals open an important therapeutic option for many human diseases that cannot be cured at all. Stem cells seem to represent the greatest potential for the future of molecular and regenerative medicine There has been increasing interest in mesenchymal stem cells (MSC) recently. This is mainly due to their properties, including prolonged ex vivo proliferation, potential of multiline transformation, and immunomodulatory properties. Currently, numerous studies on the isolation of MSCs from alternative sources are underway. MSCs obtained from Wharton’s jelly (WJ) and umbilical cord (UC) have gained much attention in recent years, because they can be easily isolated without any ethical problems from the tissue rejected after birth. In addition, MSCs from WJ represent a more primitive population than their adult counterparts, which opens new perspectives for cell therapies. Studies of MSC cells isolated from human Wharton’s jelly have shown that MSC cells demonstrate low immunogenicity and immune regulation. Stem cells are a useful tool for the treatment of many diseases associated with inflammation, tissue damage and subsequent regeneration and repair. Considering the experiments in which the regenerative properties of MSC cells were used, it can be predicted that the clinical application of MSCs could change the course of treatment of many diseases. Doctors would have a ‘new cell therapy’. MSCs seem to offer new potential in the regenerative medicine of many disorders and diseases, more effective than existing pharmaceutical protocols. Promising and impressive early results have been achieved on the basis of several clinical trials, although the exact repair mechanisms of MSC activities remain unknown and require more research.
K e y w o r d s: human mesenchymal stem cells, umbilical cord, regenerative medicine.



QUANTITATIVE DETERMINATION OF BIOLOGICALLY ACTIVE SUBSTANCES OF PLANTS OF ROSACEAE, LABIATAE AND RUTACEAE FAMILIES- pełny artykuł (full article) - plik PDF

1 Struk Oxana Anatolievna, 2 Grycyk Andrii Romanovych, 3 Stasiv Tatiana Hennadeevna
Department of Pharmacy, Ivano-Frankivsk State Medical University, Ivano-Frankivsk, Ukraine
1 Candidate of Pharmacy (Ph.D.) in Pharmaceutical Sciences, associate Professor of the Department of Pharmacy, SHEE ŤIvano-Frankivsk State Medical Universityť,city of Ivano-Frankivsk, Ukraine, e-mail: sanichka5@gmail.com. (https://orcid.org/0000-0003-4677-6894)
2 Doctor of Pharmaceutical Sciences, Professor, Head of Pharmacy Department, SHEE ŤIvano-Frankivsk State Medical Universityť, city of Ivano-Frankivsk, Ukraine, e-mail: grycyk@ukr.net. (https://orcid. org/0000-0001-7335-887X)
3 Candidate of Pharmacy (Ph.D.) in Pharmaceutical Sciences, associate Professor of the Department of Pharmacy, SHEE ŤIvano-Frankivsk State Medical Universityť, city of Ivano-Frankivsk, Ukraine. e-mail: tanya.stasiv@ukr.net. (https://orcid.org/0000-0002-4454-1189)



S u m m a r y.hexapetala Gilib., Nepeta cataria L and Ruta gravedens L. It is determined the quantitative content of basic groups of BAS in underground organs of Filipendula hexapetala, in herb of Nepeta cataria and Ruta graveolens. The oscillation of BAS content in ontogenesis depending on the ecological terms of places of growing is determined. The received data are used during the development of projects of instruction about harvesting andrying of medicinal plants material of Filipendula hexapetala, Nepeta cataria, Ruta graveolens, and also methodology of raw materials quality control.
K e y w o r d s: Filipendula hexapetala Gilib., Nepeta cataria L., Ruta graveolens L., biologically active substances.