Diagnostic Relevance (diagnostic + relevance)

Distribution by Scientific Domains

Selected Abstracts

Age-matched lymphocyte subpopulation reference values in childhood and adolescence: application of exponential regression analysis

Sabine Huenecke
Abstract Background:, Normal values of lymphocyte subpopulations for healthy children and adults have been published in defined age groups exclusively, which results in difficult data interpretation for patients close to the limit of contiguous age group ranges. In addition, normal values for a number of lymphocyte subpopulations have not been established to date. Objective:, The aim of this study was to develop a model which provides continuous age-dependent reference values. This model was applied for lymphocyte subpopulations such as na´ve and memory T cells as well as their activation profile with diagnostic relevance in children and adults. Study design:, A total of 100 blood samples, obtained from 80 healthy children and 20 adults were analysed by means of four colour-flow cytometry. Continuous age-dependent reference values were computed based on the residual values in an exponential regression model. Results:, We calculated a continuous age-related regression model for both, absolute cell counts and percentages of CD3+CD4+ T helper (TH) cells, CD3+CD8+ cytotoxic T cells, CD56+CD3, natural killer (NK) cells, CD56+CD3+ T cells, CD3+CD4+CD45RA+ na´ve TH cells, CD3+CD4+CD45RO+ memory TH cells, CD3+CD8+CD45RA+CD28+ na´ve cytotoxic T cells, CD3+CD8+CD45RO+ memory cytotoxic T cells, CD3+CD8+CD69+ early activated cytotoxic T cells and CD3+CD8+HLA-DR+ late activated cytotoxic T cells, respectively, to obtain reference values. Conclusion:, Based on an exponential regression model, the obtained reference values reflect the continuous maturation of lymphocyte subsets during childhood. [source]

Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance

HUMAN MUTATION, Issue 1 2001
Antonio Rossi
(Article was originally published in Human Mutation 17:159,171, 2001) 1. Figure 2 reports a deletion 933 del T. This should be corrected to 933-934 del CT (compare with Table 1, where mutation is reported correctly). 2. Both Table 1 and Figure 2 report a mutation 430C>A (Q135R). This should be corrected to 430C>A (Q135K), as lysine, not arginine, is the codon resulting from the mutation. [source]

Nestin expression in cutaneous melanomas and melanocytic nevi

Svetlana Brychtova
Background:, Nestin is one of the intermediate filaments that are expressed in proliferating neural progenitor cells during development of the central nervous system (CNS) and peripheral nervous system. Postnatal re-expression of the protein occurs mainly under pathological conditions, including injury and neoplasia. In this study, nestin expression was detected in both benign and malignant melanocytic skin lesions and its diagnostic relevance was then evaluated. Methods:, Altogether 139 bioptic tissue samples consisting of 42 nodular melanomas, 32 superficial spreading melanomas, 12 metastatic melanomas, 10 dysplastic nevi and 43 common melanocytic intradermal and dermoepidermal nevi were analysed using indirect immunohistochemical staining. Results:, We demonstrated that nestin immunostaining was significantly increased in melanomas where it correlated with more advanced stages of the disease. Conclusion:, We conclude that expression of the intermediate filament protein nestin might be an indicator of tumor dedifferentiation and more aggressive behaviour. Furthermore, we suggest that nestin might be a relevant marker of tumorous and non-tumorous angiogenesis. [source]

Antibodies to SS-A/Ro-52kD and centromere in autoimmune liver disease: a clue to diagnosis and prognosis of primary biliary cirrhosis

Summary Background Primary biliary cirrhosis (PBC) may be associated with various rheumatological disorders. Aim To investigate the frequency and significance of ,rheumatological' antinuclear antibodies in the field of autoimmune chronic liver disease, with special regard to PBC. Methods We studied 105 patients with PBC, 162 autoimmune liver disease controls (type 1 and 2 autoimmune hepatitis, primary sclerosing cholangitis), 30 systemic lupus erythematosus and 50 blood donors. Sera were tested for the presence of antibodies to extractable nuclear antigens (anti-ENA) by counterimmunoelectrophoresis, enzyme-linked and immunoblot (IB) assay, and for the presence of anti-centromere antibodies (ACA) by indirect immunofluorescence on HEp-2 cells and IB. Results The overall prevalence of IB-detected anti-ENA in PBC (30%) was higher than in type 1 autoimmune hepatitis (2.5%, P < 0.0001), type 2 autoimmune hepatitis (0%, P < 0.0001) and primary sclerosing cholangitis (11.5%, P = 0.006) and lower than in systemic lupus erythematosus (53%, P = 0.03). The most frequent anti-ENA reactivity in PBC was anti-SSA/Ro-52kD (28%). ACA were detected by IB in 21% PBC patients and never in the other subjects (P < 0.0001). Anti-SS-A/Ro/52kD positive PBC patients had at the time of diagnosis a more advanced histological stage (P = 0.01) and higher serum levels of bilirubin (P = 0.01) and IgM (P = 0.03) compared with negative ones. Conclusions In the autoimmune liver disease setting, anti-SS-A/Ro-52kD and ACA have a high specificity for PBC and can thus be of diagnostic relevance in anti-mitochondrial antibodies negative cases. If confirmed in further studies with adequate follow-up, anti-SS-A/Ro-52kD antibodies might identify PBC patients with a more advanced and active disease. [source]

Analysis of haemochromatosis gene mutations in a population from the Mediterranean Basin

Salvatore Campo
Abstract:Background/Aims: The C282Y mutation in the haemochromatosis gene (HFE) located on chromosome 6 has been identified as the main genetic basis of hereditary haemochromatosis (HH). Two more mutations of that gene, H63D and S65C, appear to be associated with milder forms of HH. A high allele frequency for C282Y and H63D mutations was reported in populations from North Europe, while incomplete information is available for individuals from the Mediterranean Basin where C282Y homozygotes comprise a smaller percentage of HH cases. In this study we investigated the allele frequency of HFE mutations and the association between HFE mutations and cases of HH in a population from the South of Italy (Sicily and Calabria). In addition, we evaluated a possible association between HFE mutations and either chronic liver disease or type II diabetes. Patients and Methods: Three hundred and twenty-seven individuals (654 chromosomes) were tested for C282Y, H63D and S65C mutations of the HFE gene by restriction fragment length polymorphism. Four had HH, 23 had hepatocellular carcinoma, 100 had chronic liver disease, 100 had type II diabetes, and 100 were healthy controls. Results: Both C282Y and S65C mutations were each detected in one of the 654 chromosomes analysed (allele frequency=0.15%), while H63D change was found in 122 chromosomes (allele frequency=18.6%) and was equally distributed in all the categories examined. One healthy individual had compound heterozygosity for C282Y and H63D mutations. The frequency of C282Y in this Southern Italian sample was the lowest yet reported for a population of European origin. None of the four HH patients was either homozygous or heterozygous for C282Y. Conclusions: In Mediterranean populations from Southern Italy the C282Y mutation occurs sporadically and HFE polymorphisms seem to have little diagnostic relevance. [source]