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1

Effect of genotype on selected clinical features of Polish cystic fibrosis adults

100%
Majka L., Pogorzelski P. A., Pogorzelski A., Mlynarczyk M. W., Mlynarczyk W., Zebrak Z. J., Zebrak J., Rutkiewicz R. E., Rutkiewicz E., Nowicka N. A., Nowicka A., Witt W. M., Witt M.
Journal of Applied Genetics
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2001
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vol. 42
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issue 3
367-377
EN
Cystic fibrosis (CF), the most common autosomal recessive disorder of Caucasians, is caused by the mutations in the gene encoding CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) protein. Until now, approximately 1000 mutations of the CFTR gene have been described. The genotype-phenotype relationships in CF are still not completely understood. This study was undertaken in an attempt to characterise the distribution of CFTR mutations and their effect on selected clinical parameters in a group of Polish CF adults. A total number of 38 adult CF patients (mean age 21.6 ? 6.8); 18 females and 20 males were enrolled in the study. The CFTR gene identification was conducted with the use of PCR and InnoLipa-CF set. The assessed clinical parameters included: age at diagnosis, age, lung function test, X-ray scored in Brasfield score, weight & height. We found that: (1) the genotypes of the studied population were unevenly distributed (65.8% ? genotype deltaF508/M), (2) a high percentage of 3849+10kbC.T was noted, (3) patients homozygous for the deltaF508 mutation were diagnosed significantly earlier and had a lower body mass index, (4) no differences were observed in the patients? length of life or the progression of lung disease. Conclusions: 1. In comparison to other populations, Polish adult CF patients display a relatively higher frequency of mild mutations. 2. Late diagnosis of CF in the studied group may be partially caused by a high percentage of CFTR mutations connected with the mild course of the disease that are difficult to identify. 3. Cystic fibrosis should be more commonly taken into consideration in the differential diagnosis in adult patiens with milder symptoms.
2

Diagnostic value of pancreatic elastase-1 in human acute pancreatitis

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Wereszczynska-Siemiatkowska U., Jedynak M., Mroczko B., Siemiatkowski A.
Archivum Immunologiae et Therapiae Experimentalis
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2003
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vol. 51
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issue 3
195-200
EN
The diagnosis of acute pancreatitis is usually confirmed by a significant increase of the serum amylase and/or lipase level. However, serum pancreatic elastase?1 (pEla-1) was found to be a more sensitive diagnostic marker in acute pancreatitis (AP), when assayed by RIA procedure. We analysed the serum concentration of pancreatic elastase-1, measured by ELISA technique in 46 patients with acute pancreatitis and in the control group of 12 healthy volunteers. At admission (day 1) we found significantly higher pEla-1 level in patients with AP when compared to the control group. During the following days, the concentration of pEla-1 rapidly decreased nearly to undetectable value on the third day. There was no significant difference between patients with mild and severe AP and according to aetiology. We suggest that pEla-1 has a little diagnostic value and does not provide additional information to that of cheaper and more widely available serum amylase and lipase.
3

Cystic fibrosis ? a probable cause of Frederic Chopin?s suffering and death

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Majka L., Gozdzik J., Witt M.
Journal of Applied Genetics
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2003
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vol. 44
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issue 1
77-84
EN
Frederic Chopin ? a great Polish composer and pianist ? suffered from a chronic disease. Both during his life and after death physicians disagreed on the subject of Chopin?s diagnosis. His contemporaries accepted the diagnosis of a disease common in the 18th century ? tuberculosis. Description of new clinical entities provoked new dilemmas in the 20th century. In our opinion the most tenable seems to be the diagnosis of cystic fibrosis. In this work we present F. Chopin?s case history and discuss cons and pron for cystic fibrosis as the cause of F. Chopin?s suffering and death.
4

Clinical features, treatment and genetic background of Treacher Collins syndrome

100%
Marszalek B., Wojcicki P., Kobus K., Trzeciak W. H.
Journal of Applied Genetics
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2002
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vol. 43
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issue 2
223-233
EN
Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development. The major features of the disease include midface hypoplasia, micrognathia, microtia, conductive hearing loss and cleft palate. Current procedures of surgical treatment of TCS are discussed and novel findings concerning the genetic background of TCS are described. The TCS locus has been mapped to chromosome 5q31.3-32. The TCOF1 gene contains 26 exons and encodes a 1411 amino acid protein named treacle. In the TCOF1 gene 51 mutations have been identified. Most of these mutations are insertions or deletions, which result in an introduction of a premature termination codon into the reading frame. Mutational spectra support the hypothesis that TCS results from haploinsufficiency of treacle.
5

Comparison of two methods used for monitoring low-copy cytomegalovirus infection in a patient with chronic myeloid leukemia after unrelated umbilical cord blood transplantation

100%
Dzieciatkowski T., Przybylski M., Tomaszewska A., Rokicka M., Luczak M.
Archivum Immunologiae et Therapiae Experimentalis
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2007
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vol. 55
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issue 3
199-203
EN
Introduction: Detection of human cytomegalovirus (CMV, HHV-5) DNA in clinical specimens is considered a cornerstone in the diagnosis of HHV-5 disease. The present study compared two quantitative methods used for diagnosing cytomegalovirus infection in a 21-year-old woman with chronic myeloid leukemia after an unrelated umbilical cord blood transplantation. Materials and Methods: Blood samples were tested for the presence of HHV-5 DNA using the LightCycler PCR, the quantitative Eclipse? CMV DNA Detection Kit, and a qualitative in-house PCR assay using primers that amplify part of the HHV-5 MIE gene. Results: Results from samples containing a low cytomegalovirus load were more accurate with the LightCycler test than those obtained with the Eclipse? test, which underestimated the viral load of samples containing low DNA copy numbers. Conclusions: These findings underline the value of novel PCR methods used in current therapeutic procedures and in monitoring antiviral therapy with nucleoside analogs. The high level of sensitivity, specificity, accuracy, and rapidity provided by the LightCycler instrument are favorable for the use of this system in the detection of HHV-5 DNA in clinical specimens.
6

The application of biotechnological achievements in the diagnosis and control of infection with bovine leukemia virus (BLV)

100%
Kuzmiak J.
Biotechnologia
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2003
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issue 1
74-83
EN
Bovine leukemia virus (BLV) is the causative agent for enzootic bovine lekosis (EBL). The article concerns the applications of some biotechnological achievements in the development of modern diagnostic methods, new approaches to specific prophylaxis against BLV as well as the selection of naturally resistant animals.
7
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Time and language ? critical remarks on diagnosis and training methods of temporal-order judgment

100%
Wittmann M., Fink M.
Acta Neurobiologiae Experimentalis
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2004
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vol. 64
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issue 3
341-348
EN
A lively discussion concerning the causal relation between auditory temporal processing and phoneme identification has evolved over the last decades. Subjects with language impairments not only show deficits in the identification of stop-consonant vowel syllables, but also have problems detecting the temporal order of acoustic stimuli. Recently published studies claim that an improvement in phoneme discrimination can be achieved through the training of temporal-processing abilities. Critical assessment of these studies often reveals the following weaknesses: first, the diagnostic and training methods vary between studies, which makes comparisons difficult. Second, usually only mean differences between groups or before/after treatment are presented. The success in diagnosis and training of individuals or subgroups is not documented. Third, only few diagnostic measures employed have been tested for reliability. Furthermore, the tests have not been designed according to modern psychometric methods. Fourth, several training modules are used in parallel. The effects of temporal-processing training cannot be isolated. Possible approaches for detecting the possible causal relation between the time and the language domain are discussed
8

Mycobacterium-specific human CD8 T cell responses

100%
Klein M. R., Fox A.
Archivum Immunologiae et Therapiae Experimentalis
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2001
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vol. 49
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issue 5
379-390
EN
Tuberculosis (TB) remains a global health problem. There is an intense effort to identify correlates of protective immunity and to design new TB vaccines. CD8 T cells are thought to play a significant role in controlling Mycobacterium tuberculosis infection. Relatively little has been published about the antigens and epitopes targeted by mycobacteria-specific CD8 T cells. Here we present an update of our 1999 overview of human CD8 T cell epitopes in mycobacterial antigens and discuss related issues relevant to TB diagnosis and vaccine development.
9

Biotechnology in regenerative and reproductive medicine

100%
Kamieniarz K., Nawrot R., Grajek K., Gozdzicka-Jozefiak A.
Biotechnologia
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2006
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issue 2
31-48
EN
Rapid progress in molecular biology, genetics, and mammalian biotechnology has revolutionized diagnostic, therapeutic and reproductive cloning in mammals. Recently, several human gene products have been able to be pharmaceutically explored in transgenic organisms and employed for medical applications. When organs or tissues are irreparably damaged, they may be also replaced with an artificial device or donor organ. Promising and also controversial application for therapeutic and regenerative medicine is stem cells engineering.
10

BSE- identification and prophylactics

100%
Slota E., Natonek M., Zyga A., Rejduch B.
Biotechnologia
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2002
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issue 1
136-141
EN
Prion diseases (for example: scrape of sheep, BSE, CJD of humans) are among the most notable central nervous system degenerative disorders caused by the accumulation of modified cellular protein. The conversion of PrP(C) (the normal cellular protein) into PrP(Sc) (the abnormal disease-causing isoform) involves a conformation change whereby the ?-helical content diminishes and the amount of ? sheet increases. PrP (Sc) is partially resistant to proteases, temperature, high and low pH. Because the incidence of prion diseases is due to several factors, various efforts need to be taken to reduce the scale and consequences of the disease. They include post-mortem and in vivo diagnosis and prophylactics, i.e. monitoring of animals and feed control.
11

Molecular methods for rapid detection of aneuploidy

88%
Dudarewicz L., Holzgreve W., Jeziorowska A., Jakubowski L., Zimmermann B.
Journal of Applied Genetics
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2005
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vol. 46
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issue 2
207-215
EN
Rapid molecular biological methods for prenatal diagnosis of the most common aneuploidies, collectively known as rapid aneuploidy testing, are compared in this review. We discuss methodological problems and limitations of these various methods. All these techniques are believed to be accurate and carry a low risk of misdiagnosis, but they differ in terms of labour-intensity and amenability to automation and high throughput testing. The question how to apply them safely and economically in a clinical setting has not been answered yet. The discussed techniques are so far not used as stand-alone tests, but some of them are routinely applied as a preliminary test that shortens the waiting time for classic cytogenetic karyotyping. In the future, mainly because of economical reasons, these methods may replace cytogenetics in the category of patients who make up the majority of those currently offered prenatal karyotyping: patients with moderately increased risk and no abnormalities detected by ultrasound.
12

TNF-alpha, IL-6 and their soluble receptor serum levels and secretion by neutrophils from cancer patients

88%
Jablonska E., Kiluk M., Markiewicz W., Piotrowski L., Grabowska Z., Jablonski J.
Archivum Immunologiae et Therapiae Experimentalis
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2001
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vol. 49
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issue 1
63-70
EN
Simultaneous evaluation of cytokines and their soluble receptor production and serum levels can be helpful in understanding the local and systemic immune response of a tumor-bearing host. In the present study we examined the serum levels of TNF-, IL-6 and their soluble receptors sTNFRp55, sTNFRp75 and sIL-6R compareded with their production by the polymorphonuclear neutrophils (PMN) from cancer patients. Examinations were carried out in patients with adenocarcinoma breast cancer and squamous cell carcinoma of the oral cavity and related to the clinical course and to different phases of therapy. Secretion of IL-6, sTNFRp55 and sTNFRp75 by PMN appeared to be dependent on tumor type, clinical progression of disease as well as on therapy, suggesting a significant role of these cells at different phases of the immune response to cancer associated with these mediators. Changes in values of TNF-alpha, IL-6 and their soluble receptors in sera of both cancer groups, dependent on tumor type, clinical progression and cancer therapy, could have a diagnostic and prognostic role in cancer disease.
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