M. Stankovicová, Ž. Bezáková, P. Mokrý, P. Salát, M. Kocik, J. Csöllei
Abstract The aim of this paper is the study of physico-chemical properties of the chosen compounds, derivatives of 2-hydroxy-3-[2-(4-methoxyphenyl) ethylamino]propyl-4-[(alkoxycarbonyl)amino]benzoates and 2-hydroxy-3-[2-(2-methoxyphenyl)ethylamino]propyl-4-[(alkoxycarbonyl) amino]benzoates with potential ultra-short beta-adrenolytic activity. The studied compounds are different in the position of the substituent on the benzene ring in the side chain as well as in the aromatic ring in position 4 with alkyl- (methylto butyl-) carbamate. The physico-chemical characteristics, for example, lipophilicity, surface activity, adsorbability, acidobasic properties etc., are very important for the explanation of the relationship between structure and biological activity of the drug. These parameters serve as the base of quantitative structure-activity study. The goal of this work is to establish the spectral characteristics of studied compounds in UV-area, pKa values, the parameters of lipophilicity (the values of Rf and RM from thin layer chromatography, retention time t´R and capacity factor k´ from liquid chromatography and experimental partition coefficients log P´ values), surface tension, critical micelle concentrations, the adsorbability of compounds expressed by percent of adsorbed compound on active charcoal β% as well as by Freundlich adsorption isotherms. The obtained values are correlated with the parameters characterising the size of molecule, for example, the number of carbon atoms on carbamate functional group.
{"title":"Study of physico-chemical properties of potential beta-adrenolytics","authors":"M. Stankovicová, Ž. Bezáková, P. Mokrý, P. Salát, M. Kocik, J. Csöllei","doi":"10.2478/afpuc-2014-0014","DOIUrl":"https://doi.org/10.2478/afpuc-2014-0014","url":null,"abstract":"Abstract The aim of this paper is the study of physico-chemical properties of the chosen compounds, derivatives of 2-hydroxy-3-[2-(4-methoxyphenyl) ethylamino]propyl-4-[(alkoxycarbonyl)amino]benzoates and 2-hydroxy-3-[2-(2-methoxyphenyl)ethylamino]propyl-4-[(alkoxycarbonyl) amino]benzoates with potential ultra-short beta-adrenolytic activity. The studied compounds are different in the position of the substituent on the benzene ring in the side chain as well as in the aromatic ring in position 4 with alkyl- (methylto butyl-) carbamate. The physico-chemical characteristics, for example, lipophilicity, surface activity, adsorbability, acidobasic properties etc., are very important for the explanation of the relationship between structure and biological activity of the drug. These parameters serve as the base of quantitative structure-activity study. The goal of this work is to establish the spectral characteristics of studied compounds in UV-area, pKa values, the parameters of lipophilicity (the values of Rf and RM from thin layer chromatography, retention time t´R and capacity factor k´ from liquid chromatography and experimental partition coefficients log P´ values), surface tension, critical micelle concentrations, the adsorbability of compounds expressed by percent of adsorbed compound on active charcoal β% as well as by Freundlich adsorption isotherms. The obtained values are correlated with the parameters characterising the size of molecule, for example, the number of carbon atoms on carbamate functional group.","PeriodicalId":7321,"journal":{"name":"Acta Facultatis Pharmaceuticae Universitatis Comenianae","volume":"43 1","pages":"49 - 54"},"PeriodicalIF":0.0,"publicationDate":"2014-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76802351","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
S. Fialová, D. Tekeľová, E. Svajdlenka, P. Potúček, K. Jakubová, D. Grančai
Abstract Mentha × piperita (L.) Huds. of the family Lamiaceae is a very important species for commercial exploitation due to the high content of essential oil. Besides the essential oils, there are also other significant secondary metabolites in peppermint, especially flavonoids and hydroxycinnamic derivatives. In this study, we evaluate the variability of essential oil constituents and of phenolic compounds in the leaves of M. × piperita during the development of inflorescence. Similar studies, dealing with the variation of the essential oils and its composition, have been performed in the past, but no attention was paid to the variation of other secondary metabolites. We examined M. × piperita cv. ‘Perpeta’, the domestic cultivar. The plants were cultivated in the climatic conditions of south-west Slovakia. The contents of secondary metabolites were investigated in the week periods, from the beginning of inflorescence formation to the end of flowering. The yield and the quality of essential oil have been carried out by distillation and gas chromatography mass spectrometry (GC-MS). The phenolic substances were analysed using spectrophotometric methods according to European Pharmacopoeia. The highest contents of phenolic substances have been found in leaves of plants during the flowering phenophase, the same stage when essential oil of mint also achieves the highest quality.
{"title":"The variability of secondary metabolites in mentha × piperita cv . ‘perpeta’ during the development of inflorescence","authors":"S. Fialová, D. Tekeľová, E. Svajdlenka, P. Potúček, K. Jakubová, D. Grančai","doi":"10.2478/afpuc-2014-0012","DOIUrl":"https://doi.org/10.2478/afpuc-2014-0012","url":null,"abstract":"Abstract Mentha × piperita (L.) Huds. of the family Lamiaceae is a very important species for commercial exploitation due to the high content of essential oil. Besides the essential oils, there are also other significant secondary metabolites in peppermint, especially flavonoids and hydroxycinnamic derivatives. In this study, we evaluate the variability of essential oil constituents and of phenolic compounds in the leaves of M. × piperita during the development of inflorescence. Similar studies, dealing with the variation of the essential oils and its composition, have been performed in the past, but no attention was paid to the variation of other secondary metabolites. We examined M. × piperita cv. ‘Perpeta’, the domestic cultivar. The plants were cultivated in the climatic conditions of south-west Slovakia. The contents of secondary metabolites were investigated in the week periods, from the beginning of inflorescence formation to the end of flowering. The yield and the quality of essential oil have been carried out by distillation and gas chromatography mass spectrometry (GC-MS). The phenolic substances were analysed using spectrophotometric methods according to European Pharmacopoeia. The highest contents of phenolic substances have been found in leaves of plants during the flowering phenophase, the same stage when essential oil of mint also achieves the highest quality.","PeriodicalId":7321,"journal":{"name":"Acta Facultatis Pharmaceuticae Universitatis Comenianae","volume":"348 1","pages":"21 - 25"},"PeriodicalIF":0.0,"publicationDate":"2014-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74828324","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abstract This study presents the evaluation of chosen anthropometric and motor parameters in group of female junior competitors throughout the course of 2-year preparation of aerobic gymnastics by means of Z-scores. The observed group consisted of 12 girls (average age at the beginning of observance 14.08 ± 1.19 years). Evaluation of anthropometric (body height, body weight, body mass index, percentage of body fat, acting body weight) and motor parameters (sit-ups in 30 seconds and 60 seconds, pull-ups to bar, modified push-ups, standing long jump, backwards tandem walking, shuttle run 4×10 m, Jacík’s test) was carried out in standard conditions in nine girls at 3-month intervals. It has been confirmed that female probands with higher Z-score of motor parameters together with lower Z-score of anthropometric parameters achieved higher sport performance during the 2-year observance at competitions, with an exception of one such proband.
{"title":"„Z”-scores of anthropometric and motor parameters of girls in aerobic gymnastics","authors":"M. Tibenska, H. Medeková","doi":"10.2478/afpuc-2014-0008","DOIUrl":"https://doi.org/10.2478/afpuc-2014-0008","url":null,"abstract":"Abstract This study presents the evaluation of chosen anthropometric and motor parameters in group of female junior competitors throughout the course of 2-year preparation of aerobic gymnastics by means of Z-scores. The observed group consisted of 12 girls (average age at the beginning of observance 14.08 ± 1.19 years). Evaluation of anthropometric (body height, body weight, body mass index, percentage of body fat, acting body weight) and motor parameters (sit-ups in 30 seconds and 60 seconds, pull-ups to bar, modified push-ups, standing long jump, backwards tandem walking, shuttle run 4×10 m, Jacík’s test) was carried out in standard conditions in nine girls at 3-month intervals. It has been confirmed that female probands with higher Z-score of motor parameters together with lower Z-score of anthropometric parameters achieved higher sport performance during the 2-year observance at competitions, with an exception of one such proband.","PeriodicalId":7321,"journal":{"name":"Acta Facultatis Pharmaceuticae Universitatis Comenianae","volume":"26 1","pages":"55 - 58"},"PeriodicalIF":0.0,"publicationDate":"2014-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90363033","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
I. Malovecká, J. Vidrová, D. Mináriková, V. Foltán
Abstract Medical devices (MD), together with pharmacotherapy are supportive treatment of many acute and chronic diseases. MD as a part of medical technologies lead to more effective treatment, faster patient recovery and a reduced risk of complications. Many MD are reimbursed from public health insurance funds entirely; for others, particularly advanced functional types of MD, there must be patient participation on price or they can buy them according own decision (direct sale). The target of this study is to analyze the data from paid databases of National Center for Health Information (NCHI) that collects the outputs of provided healthcare. The most recent data were from 1.1.2013 to 30.9.2013. According to NCHI, apart from community pharmacies, there are 226 registered establishments that sold MD until 30.9.2013. Their specialization included dispensing MD (n=163), dispensing orthopaedic devices (n=48) and dispensing audioprosthetic devices (n=15). In the observed period, average monthly spending on MD were 10.1 million packages and 14 million €. Average monthly spending on reimbursed MD were 8.8 million packages and 12.9 million €. The groups with the largest shares were MD for incontinence and urinary retention, 7.7 million packages (86.9%) and 3.9 million € (30.7%); plasters and bandaging materials, 0.5 million packages (6.0%) and 1.3 million € (10.1%); MD for ostomies, 0.4 million packages (4.5%) and 1 million € (8.0%); and the MD for diabetics group, 0.1 million packages (1.4%) and 1.6 million € (12.8%). Direct sales of MD per month on average reached 1.3 million packages and 1.1 million €. The groups with largest shares were MD for incontinence and urinary retention, 629,660 packages (50.3%) and 291,919 € (26.2%); plasters and bandaging materials, 388,111 packages (31.0%) and 227,119 € (20.4%); and MD for diabetics, 56,014 packages (4.5%) and 81,721 € (7.3%).
{"title":"Spending of medical devices in Slovakia","authors":"I. Malovecká, J. Vidrová, D. Mináriková, V. Foltán","doi":"10.2478/afpuc-2014-0009","DOIUrl":"https://doi.org/10.2478/afpuc-2014-0009","url":null,"abstract":"Abstract Medical devices (MD), together with pharmacotherapy are supportive treatment of many acute and chronic diseases. MD as a part of medical technologies lead to more effective treatment, faster patient recovery and a reduced risk of complications. Many MD are reimbursed from public health insurance funds entirely; for others, particularly advanced functional types of MD, there must be patient participation on price or they can buy them according own decision (direct sale). The target of this study is to analyze the data from paid databases of National Center for Health Information (NCHI) that collects the outputs of provided healthcare. The most recent data were from 1.1.2013 to 30.9.2013. According to NCHI, apart from community pharmacies, there are 226 registered establishments that sold MD until 30.9.2013. Their specialization included dispensing MD (n=163), dispensing orthopaedic devices (n=48) and dispensing audioprosthetic devices (n=15). In the observed period, average monthly spending on MD were 10.1 million packages and 14 million €. Average monthly spending on reimbursed MD were 8.8 million packages and 12.9 million €. The groups with the largest shares were MD for incontinence and urinary retention, 7.7 million packages (86.9%) and 3.9 million € (30.7%); plasters and bandaging materials, 0.5 million packages (6.0%) and 1.3 million € (10.1%); MD for ostomies, 0.4 million packages (4.5%) and 1 million € (8.0%); and the MD for diabetics group, 0.1 million packages (1.4%) and 1.6 million € (12.8%). Direct sales of MD per month on average reached 1.3 million packages and 1.1 million €. The groups with largest shares were MD for incontinence and urinary retention, 629,660 packages (50.3%) and 291,919 € (26.2%); plasters and bandaging materials, 388,111 packages (31.0%) and 227,119 € (20.4%); and MD for diabetics, 56,014 packages (4.5%) and 81,721 € (7.3%).","PeriodicalId":7321,"journal":{"name":"Acta Facultatis Pharmaceuticae Universitatis Comenianae","volume":"58 1","pages":"35 - 41"},"PeriodicalIF":0.0,"publicationDate":"2014-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77506545","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abstract In our paper, we demonstrate several possibilities of using neutrons in pharmaceutical research with the help of examples of scientific results achieved at our University. In this first part, basic properties of neutrons and elementary principles of elastic scattering of thermal neutrons are described. Results of contrast variation neutron diffraction on oriented phospholipid bilayers with intercalated local anaesthetic or cholesterol demonstrate the potential of this method at determination of their position in bilayers. Diffraction experiments with alkan-1-ols located in the bilayers revealed their influence on bilayer thickness as a function of their alkyl chain length.
{"title":"Neutrons in studies of phospholipid bilayers and bilayer–drug interaction. I. Basic principles and neutron diffraction","authors":"M. Belička, Ferdinand Devínsky, P. Balgavý","doi":"10.2478/afpuc-2014-0010","DOIUrl":"https://doi.org/10.2478/afpuc-2014-0010","url":null,"abstract":"Abstract In our paper, we demonstrate several possibilities of using neutrons in pharmaceutical research with the help of examples of scientific results achieved at our University. In this first part, basic properties of neutrons and elementary principles of elastic scattering of thermal neutrons are described. Results of contrast variation neutron diffraction on oriented phospholipid bilayers with intercalated local anaesthetic or cholesterol demonstrate the potential of this method at determination of their position in bilayers. Diffraction experiments with alkan-1-ols located in the bilayers revealed their influence on bilayer thickness as a function of their alkyl chain length.","PeriodicalId":7321,"journal":{"name":"Acta Facultatis Pharmaceuticae Universitatis Comenianae","volume":"50 1","pages":"1 - 11"},"PeriodicalIF":0.0,"publicationDate":"2014-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88471546","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A. Bolčeková, A. Hlavatá, A. Zat’ková, M. Némethová, M. Holobradá, P. Sýkora, A. Gerinec, K. Husáková, D. Ilencikova, L. Kovács
Abstract Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders with mainly mild cutaneous manifestations. Some patients with NF1, however, develop severe complications such as progressive optic pathway glioma, plexiform neurofibroma or malignant peripheral nerve sheath tumour. Due to potentially progressive and asymptomatic course of the disease, patients with NF1 require a regular multidisciplinary follow-up in coordination with various specialties and early intervention. In this article, we summarise our long-term experience with multidisciplinary follow-up of NF1 patients in the Centre for Neurofibromatosis Type 1 patients at the Children's University Hospital in Bratislava.
{"title":"Complex Multidisciplinary Follow-Up Of Children With Neurofibromatosis Type 1","authors":"A. Bolčeková, A. Hlavatá, A. Zat’ková, M. Némethová, M. Holobradá, P. Sýkora, A. Gerinec, K. Husáková, D. Ilencikova, L. Kovács","doi":"10.2478/afpuc-2014-0003","DOIUrl":"https://doi.org/10.2478/afpuc-2014-0003","url":null,"abstract":"Abstract Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders with mainly mild cutaneous manifestations. Some patients with NF1, however, develop severe complications such as progressive optic pathway glioma, plexiform neurofibroma or malignant peripheral nerve sheath tumour. Due to potentially progressive and asymptomatic course of the disease, patients with NF1 require a regular multidisciplinary follow-up in coordination with various specialties and early intervention. In this article, we summarise our long-term experience with multidisciplinary follow-up of NF1 patients in the Centre for Neurofibromatosis Type 1 patients at the Children's University Hospital in Bratislava.","PeriodicalId":7321,"journal":{"name":"Acta Facultatis Pharmaceuticae Universitatis Comenianae","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2014-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77059468","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abstract The creation of a registry of patients with rare diseases is a priority of the National Strategy for Rare Diseases as well as of the National Plan for Rare Diseases. Knowledge of the real number of patients with rare diseases would thus, in addition to basic clinical information, represent an important point in planning health and social care. The presented work introduces points of departure which constitute the basis of a new specific National Registry of Patients with Rare Diseases in the Slovak Republic. Its creation builds on the existing registries as well as on the structure of health care in the Slovak Republic. With the protection of personal data in mind, the collection of data will be carried out by the National Centre of Health Information (NCHI), which will also use the existing tool in the process of creation. Thanks to the cooperation between NCHI and the Slovak Society of Medical Genetics, NCHI developed separate reporting forms on rare diseases according to OMIM (Online Mendelian Inheritance in Man) and ORPHANET rare disease coding (ORPHA codes of rare diseases), and the International classification of diseases code (ICD 10). The activities also include cooperation with the existing registries (part of which are rare diseases). For example National Registry of Congenital Developmental Heart Defects, national register of neuromuscular disorders, oncologic register or register of diabetes mellitus. Gathering the information from these registries we will extend the data about rare diseases in the Slovak republic. At the international level the participation in the European Surveillance of Congenital Anomalies (EUROCAT) is important.
{"title":"The Creation Of The National Registry Of Rare Diseases In The Slovak Republic","authors":"F. Cisárik, A. Baráková","doi":"10.2478/afpuc-2014-0005","DOIUrl":"https://doi.org/10.2478/afpuc-2014-0005","url":null,"abstract":"Abstract The creation of a registry of patients with rare diseases is a priority of the National Strategy for Rare Diseases as well as of the National Plan for Rare Diseases. Knowledge of the real number of patients with rare diseases would thus, in addition to basic clinical information, represent an important point in planning health and social care. The presented work introduces points of departure which constitute the basis of a new specific National Registry of Patients with Rare Diseases in the Slovak Republic. Its creation builds on the existing registries as well as on the structure of health care in the Slovak Republic. With the protection of personal data in mind, the collection of data will be carried out by the National Centre of Health Information (NCHI), which will also use the existing tool in the process of creation. Thanks to the cooperation between NCHI and the Slovak Society of Medical Genetics, NCHI developed separate reporting forms on rare diseases according to OMIM (Online Mendelian Inheritance in Man) and ORPHANET rare disease coding (ORPHA codes of rare diseases), and the International classification of diseases code (ICD 10). The activities also include cooperation with the existing registries (part of which are rare diseases). For example National Registry of Congenital Developmental Heart Defects, national register of neuromuscular disorders, oncologic register or register of diabetes mellitus. Gathering the information from these registries we will extend the data about rare diseases in the Slovak republic. At the international level the participation in the European Surveillance of Congenital Anomalies (EUROCAT) is important.","PeriodicalId":7321,"journal":{"name":"Acta Facultatis Pharmaceuticae Universitatis Comenianae","volume":"36 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2014-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85002837","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abstract Alkaptonuria is a rare inherited genetic disorder of phenylalanine and tyrosine metabolism. This is an autosomal recessive condition that is caused due to a defect in the enzyme homogentisate 1,2-dioxygenase, which participates in the degradation of tyrosine. As a result, homogentisic acid and its oxide accumulate in the blood and are excreted in urine in large amounts. The polymer of homogentisic acid called alkapton impregnates bradotrophic tissues.
{"title":"Alkaptonuria and Ochronosis – Experience From Slovakia","authors":"J. Rovenský, T. Urbánek, R. Imrich","doi":"10.2478/afpuc-2014-0001","DOIUrl":"https://doi.org/10.2478/afpuc-2014-0001","url":null,"abstract":"Abstract Alkaptonuria is a rare inherited genetic disorder of phenylalanine and tyrosine metabolism. This is an autosomal recessive condition that is caused due to a defect in the enzyme homogentisate 1,2-dioxygenase, which participates in the degradation of tyrosine. As a result, homogentisic acid and its oxide accumulate in the blood and are excreted in urine in large amounts. The polymer of homogentisic acid called alkapton impregnates bradotrophic tissues.","PeriodicalId":7321,"journal":{"name":"Acta Facultatis Pharmaceuticae Universitatis Comenianae","volume":"21 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2014-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85504211","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abstract Hairy cell leukaemia (HCL) is a rare chronic indolent lymphoproliferative disease of B-lymphocytes. It always infiltrates the spleen, bone marrow or other organs and is also present in the peripheral blood in more than 95% of cases. The disease takes its name from its characteristic wrinkled surface with hair-like projections. The prognosis of this infaust diagnosis has dramatically changed since the 1980s through more precise diagnosis and efective treatment with purine analogues (1984, 2-deoxycoformy-cine (2-dCF); 1990, 2-chlorodeoxyadenosine (2-CdA)). In our group of 38 patients, we confrmed the diagnostic possibilities and their accuracy; in addition to morphological examination, these include fow cytometric detection of typical surface CD antigens and immunohistochemical recognition of hairy cells in the trephine biopsy. The treatment percentage in the number of response rates (RRs) (100%), complete remissions (CRs) (79%) and overall survival of patients is comparable with previously known data. Overall survival rate without symptoms of disease for more than 10 years after treatment is 87% (33/38). The presence and quantity of minimal residual disease (MRD) after frst-line treatment in bone marrow determine subsequent progression or relapse of the disease, sometimes even occurring many years after the treatment. Probably some new pharmacotherapeutical possibilities (monoclonal antibodies, immunotoxins, tyrosine kinase inhibitors or inhibitors of B-Raf enzyme) could demonstrate the ability to eliminate MRD and cure it in relapsed patients or patients refractory to purine analogues. HCL has become an oncological disease with a relatively good prognosis and long-term survival after standard treatment with purine analogues despite the persistence of indolent MRD in the bone marrow at varying degree of residual infiltration intensity.
{"title":"Characteristics and Treatment of Hairy Cell Leukaemia","authors":"R. Greksák","doi":"10.2478/afpuc-2014-0002","DOIUrl":"https://doi.org/10.2478/afpuc-2014-0002","url":null,"abstract":"Abstract Hairy cell leukaemia (HCL) is a rare chronic indolent lymphoproliferative disease of B-lymphocytes. It always infiltrates the spleen, bone marrow or other organs and is also present in the peripheral blood in more than 95% of cases. The disease takes its name from its characteristic wrinkled surface with hair-like projections. The prognosis of this infaust diagnosis has dramatically changed since the 1980s through more precise diagnosis and efective treatment with purine analogues (1984, 2-deoxycoformy-cine (2-dCF); 1990, 2-chlorodeoxyadenosine (2-CdA)). In our group of 38 patients, we confrmed the diagnostic possibilities and their accuracy; in addition to morphological examination, these include fow cytometric detection of typical surface CD antigens and immunohistochemical recognition of hairy cells in the trephine biopsy. The treatment percentage in the number of response rates (RRs) (100%), complete remissions (CRs) (79%) and overall survival of patients is comparable with previously known data. Overall survival rate without symptoms of disease for more than 10 years after treatment is 87% (33/38). The presence and quantity of minimal residual disease (MRD) after frst-line treatment in bone marrow determine subsequent progression or relapse of the disease, sometimes even occurring many years after the treatment. Probably some new pharmacotherapeutical possibilities (monoclonal antibodies, immunotoxins, tyrosine kinase inhibitors or inhibitors of B-Raf enzyme) could demonstrate the ability to eliminate MRD and cure it in relapsed patients or patients refractory to purine analogues. HCL has become an oncological disease with a relatively good prognosis and long-term survival after standard treatment with purine analogues despite the persistence of indolent MRD in the bone marrow at varying degree of residual infiltration intensity.","PeriodicalId":7321,"journal":{"name":"Acta Facultatis Pharmaceuticae Universitatis Comenianae","volume":"33 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2014-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89908992","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abstract A one-and-a-half year experience with expanded newborn screening (ENBS) in Slovakia provided by means of tandem mass spectrometry (LC-MS/MS) is presented. Method ENBS was realised from dry blood samples of the regular NBS in National Screening Centre SK. The LC-MS/MS software used allowed evaluating even 73 analytes in MRM mode after cut-of limits in 99 percentile of daily values. The regular ENBS was oriented to 10 inherited metabolic disorders (IMDs), organic acids and carnitine defects (PKU/HPA, MSUD, GAI, IVA, MCAD, LCHAD, SCAD, CPT I, CPT II, CACT). Except these, many other variations of results were registered in perimeter of the method. They were individually evaluated until the confrmation or exclusion of the suspected diagnosis. Results During the one-and-a-half years, 82 892 newborns were evaluated by ENBS and 34 positive cases of IMDs were detected and confrmed, which represents a screening prevalence of 1:2438 newborns. Out of these, 24 cases were from regular ENBS (PKU/HPA, MSUD, MCAD) with an incidence of 1:3 454, and 10 additional cases at the periphery of LC-MS/MS evaluation with a prevalence of 1:8 286. Conclusion Preliminary experience and results with ENBS confrmed its high efectiveness not only in 10 IMDs included in regular ENBS, but also at perimeter of LC-MS/MS method, in which it is possible to detect additional IMDs not included in regular spectrum of ENBS. This group comprised 29% of all cases. In general, the prevalence is comparable with PKU and/or CAH.
{"title":"First Results From Expanded Newborn Screening in slovak Republic","authors":"S. Dluholucký, M. Knapkova, M. Zahorcova","doi":"10.2478/afpuc-2014-0004","DOIUrl":"https://doi.org/10.2478/afpuc-2014-0004","url":null,"abstract":"Abstract A one-and-a-half year experience with expanded newborn screening (ENBS) in Slovakia provided by means of tandem mass spectrometry (LC-MS/MS) is presented. Method ENBS was realised from dry blood samples of the regular NBS in National Screening Centre SK. The LC-MS/MS software used allowed evaluating even 73 analytes in MRM mode after cut-of limits in 99 percentile of daily values. The regular ENBS was oriented to 10 inherited metabolic disorders (IMDs), organic acids and carnitine defects (PKU/HPA, MSUD, GAI, IVA, MCAD, LCHAD, SCAD, CPT I, CPT II, CACT). Except these, many other variations of results were registered in perimeter of the method. They were individually evaluated until the confrmation or exclusion of the suspected diagnosis. Results During the one-and-a-half years, 82 892 newborns were evaluated by ENBS and 34 positive cases of IMDs were detected and confrmed, which represents a screening prevalence of 1:2438 newborns. Out of these, 24 cases were from regular ENBS (PKU/HPA, MSUD, MCAD) with an incidence of 1:3 454, and 10 additional cases at the periphery of LC-MS/MS evaluation with a prevalence of 1:8 286. Conclusion Preliminary experience and results with ENBS confrmed its high efectiveness not only in 10 IMDs included in regular ENBS, but also at perimeter of LC-MS/MS method, in which it is possible to detect additional IMDs not included in regular spectrum of ENBS. This group comprised 29% of all cases. In general, the prevalence is comparable with PKU and/or CAH.","PeriodicalId":7321,"journal":{"name":"Acta Facultatis Pharmaceuticae Universitatis Comenianae","volume":"96 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2014-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87199216","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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