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1

Human leukocyte antigens as psoriasis inheritance and susceptibility markers

100%
Szczerkowska_ D. A.
Archivum Immunologiae et Therapiae Experimentalis
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2005
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vol. 53
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issue 5
428-433
EN
Psoriasis is a multifactoral and heterogenetically inherited disease. The role of hereditary transmission is supported by familial association, twin studies, and correlation with human leukocyte antigens (HLA). Numerous studies have proved that B13, B17, Cw6, and DR7 antigens are positively associated with psoriasis. Cw6 antigen has been repeatedly indicated to be the most significant marker for the risk prediction of the disease. On the basis of epidemiological studies and HLA analysis, a concept of two distinct disease patterns of psoriasis vulgaris was proposed. In type I psoriasis the disease has an early onset, strong correlation with Cw6, B13, B17, and DR7 antigens, and familiar inheritance. Type II psoriasis has a late onset, weak correlation with HLA antigens, and sporadic familiar occurrence. Both types seem to differ clinically. Moreover, some extended haplotypes were shown to be correlated with the disease, especially with the type I psoriasis. Although a psoriasis susceptibility gene(s) has not been yet identified, a number of candidate genes were studied, with evidence for a major locus located within the major histocompatibility complex (PSORS 1). Cw6 allele is the most extensively investigated candidate gene, but present evidence suggests that it is rather in strong linkage disequilibrium with the PSORS 1 gene than the susceptibility allele itself. This article reviews past and current data on the genetic background of psoriasis with special attention to its correlation with HLA antigens.
2

Optimalization and validation of ADSRRS-fingerprinting

100%
Krawczyk B., Lewandowski K.
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2007
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issue 2
95-113
EN
Macrorestriction analysis of genomic DNA followed by pulsed-field gel electrophoresis (REA-PFGE) has become the 'gold standard' for molecular typing (10). In recent years, some alternative techniques have been successfully applied. However, there is still a need for a new method which may appear to be less complex, cheaper, and have a power of discrimination at least similar to that of REA-PFGE. Recently, we showed the performance and convenience of a novel assay, based on the fingerprinting of bacterial genomes by amplification of DNA fragments surrounding rare restriction sites (ADSRRS-fingerprinting), for its potential usefulness in epidemiological investigations. In this study, ADSRRS-fingerprinting method was optimized at each stage of the procedure. The modified method, named ADSRRS-fingerprinting plus, differs from the original technique in several points. The optimized method considerably shortens the time of experiment, offers good discriminatory power and also demonstrates excellent reproducibility. Next, ADSRRS-fingerprinting plus was validated. These experiments proved that the method is specific, selective and suitable for intended purpose and also confirmed its reliability, reproducibility and simplicity in the interpretation of the results. Optimized and validated procedure of ADSRRS-fingerprinting plus was used in the development of a diagnostic kit (ADSRRS-KIT) for strain differentiation of bacteria below the species level, using a simple set of ready-to-use reagents and standard equipment.
3
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Variant Creutzfeldt-Jakob Disease

100%
Will G. R.
Acta Neurobiologiae Experimentalis
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2002
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vol. 62
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issue 3
167-173
EN
Variant Creutzfeldt-Jakob disease is caused by the transmission of bovine spongiform encephalopathy to humans. The clinical and investigative features of variant CJD are relatively distinct from sporadic CJD. The number of cases of vCJD are increasing with time in the UK, but the total future number of cases of vCJD is uncertain.
4

Polish Registry of Congenital Malformations ? aims and organization of the registry monitoring 300 000 births a year

88%
Latos-Bielenska A., Materna-Kiryluk A.
Journal of Applied Genetics
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2005
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vol. 46
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issue 4
341-348
EN
In 1997, the Polish Registry of Congenital Malformations (PRCM) was established, to fulfil epidemiological, prophylactic, socioeconomic and scientific functions. The PRCM is a population-based registry monitoring currently about 300 000 births a year in 13 provinces. Such a large area and population require a special organizational structure of the Registry. The PRCM Central Working Group and the computer database are located in the Department of Medical Genetics, University of Medical Sciences, Pozna?. Here the data are collected, validated, encoded according to the ICD-10, and analysed. Provincial Working Groups are responsible for supervision of data collection in the given province. The PRCM staff has grown from about 250 members in 1997 to more than 400 members today. The PRCM collects information on structural defects diagnosed before the end of the second year of life. Minor anomalies are excluded from the registry. The main source of information is a registration form filled up by the physician diagnosing the anomaly. Since 2004 also electronic reporting has been possible. On 28 September 2005 there were 54 020 entries in the database concerning 33 729 children with at least one congenital malformation and 1261 control entries concerning children without malformations. The PRCM is also an important source of identification of families at genetic risk. Education of physicians and the community in the field of genetic counselling is also an important aim of the PRCM. Since 2001, the PRCM has been a member of the Eurocat. Detailed information on PRCM organization, electronic reporting, and results are available at the PRCM website (www.rejestrwad.pl).
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