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  • 1
    Electronic Resource
    Electronic Resource
    Intron 22 inversions in the Turkish haemophilia A patients: prevalence and haplotype analysis (1999)
    Oxford UK : Blackwell Science Ltd
    Haemophilia 5 (1999), S. 0 
    Details
    ISSN: 1365-2516
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: In about half of the severe haemophilia A cases, the disease is caused by an inversion that split the F.VIII gene into two parts separated by ≈ 300–400 kb. Herein, we show that in the Turkish population this inversion mutation accounts for 29% of 141 haemophilia A cases and 42% of severe cases. Most of the inversions are of the distal type (72%) whereas nine were of the proximal type (28%). Haplotype analysis using 4 markers in the F.VIII gene did not reveal a single haplotype associated with the inversion. However, the pre- valence of one haplotype: HindIII (–) – Int13 (CA)20– Int22 (CA + CT)26–XbaI (–) is higher in the inversion patients. Since founder effect is excluded for the inversion patients, our results suggest that some as yet unknown factor(s) may make these alleles more prone for the inversion. However, a bias due to the low number of studied cases cannot be excluded.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1365-2516.1999.00307.x
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  • 2
    Electronic Resource
    Electronic Resource
    Molecular pathology of haemophilia A in Turkish patients: identification of 36 independent mutations (2001)
    Oxford UK : Blackwell Science Ltd
    Haemophilia 7 (2001), S. 0 
    Details
    ISSN: 1365-2516
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Haemophilia A is an X-linked recessive bleeding disorder caused by heterogeneous mutations in the factor VIII gene. In an attempt to reveal the molecular pathology of Turkish haemophilia A patients, the coding sequence of the gene, excluding a large portion of exon 14, was amplified from genomic DNA and subjected to denaturing gradient gel electrophoresis prior to DNA sequencing. Fifty-nine haemophilia A patients were included in the study with severe, moderate and mild phenotypes observed in 24, 15 and 16 patients, respectively. Factor VIII activity and clinical phenotypes were not available for four patients. A total of 36 independent mutations were found, with a mutation detection efficacy of 61%. The mutations that were reported for the first time include 20 point mutations, one 8-bp insertion (TCAAGATA) in exon 4 and one large deletion greater than 2.8 kb involving exon 14. The novel point mutations were composed of three nonsense (Ser681Ter, Cys2021Ter and Gln2113Ter), one splicing error (IVS-1G→A), 15 missense mutations (Lys48Asn; Leu-98Phe; Thr118Ala; Cys248Tyr; Glu456Lys; Asp560Ala; Tyr664Cys; Phe679Leu; Gly691Trp; Asp1769His; Val1857Leu; Gly2026Gln; Arg2163Pro; Asp2288Ala; and Arg2304Leu) and a T deletion in exon 25 that caused a frameshift followed by a stop codon. All missense mutations except Val1857Leu, which maintained a conserved nonpolar R group, occurred at amino acids conserved among four species and were most probably pathogenic. In addition, two sequence changes (IVS3–9C→T) and (Leu2230Leu) were also detected in patients carrying Val1857Leu and Phe679Leu missense mutations, respectively. Identification of mutation origins in eight sporadic cases revealed an equal sex ratio of mutations.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1365-2516.2001.00548.x
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  • 3
    Electronic Resource
    Electronic Resource
    Magnetic resonance imaging of posterior pituitary for evaluation of the neurohypophyseal function in idiopathic and autosomal dominant neurohypophyseal diabetes insipidus (1997)
    Springer
    European radiology 7 (1997), S. 1098-1102 
    Details
    ISSN: 1432-1084
    Keywords: Key words: MR imaging ; Idiopathic diabetes insipidus ; Familial autosomal dominant diabetes insipidus ; Neurohypophysis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract. We investigated the role of MR imaging for evaluation of the functional status of the neurohypophyseal system in both idiopathic central diabetes insipidus (DI) and familial autosomal dominant neurohypophyseal DI. The patients and family with DI were analyzed retrospectively for the presence or absence of posterior pituitary gland hyperintense signal on MR images. A total of 19 adult patients with idiopathic central DI, 7 members of a family with autosomal dominant DI and 20 control subjects were included in the study. Diagnosis of idiopathic DI was based on the presence of central DI in the absence of any alteration that is known to be responsible for DI. The patients were studied retrospectively and the morphology and intensity of the posterior lobe by MR imaging was assessed by blinded reading. In all patients with idiopathic central DI and the affected members of the family, the posterior bright signal was absent while the stalk was normal on MR images. In contrast, normal posterior pituitary bright signal and stalk were found in unaffected members of the family and all control subjects. We conclude that MR imaging of the posterior pituitary lobe can be used to evaluate the functional status of the neurohypophyseal system in idiopathic central DI and familial autosomal dominant DI.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s003300050261
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  • 4
    Electronic Resource
    Electronic Resource
    Plasma concentrations of granulocyte-macrophage colony-stimulating factor and interleukin-6 in septic and healthy preterms (2000)
    Springer
    European journal of pediatrics 159 (2000), S. 156-157 
    Details
    ISSN: 1432-1076
    Keywords: Key words Sepsis ; Prematurity ; Granulocyte-macrophage colony-stimulating factor ; Interleukin-6
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Plasma granulocyte-macrophage colony-stimulating factor (GM-CSF) and interleukin-6 (IL-6) concentrations were determined in 21 preterm infants with sepsis and nine healthy preterm neonates of the same postnatal age at sampling. Plasma GM-CSF levels were elevated at diagnosis in the septic preterms as compared to the healthy preterms (P = 0.01), but did not differ significantly on recovery. IL-6 levels were also elevated markedly at diagnosis (P = 0.0003), but decreased to normal on recovery as compared to the healthy preterm infants. GM-CSF levels were more prominent in septic preterms with neutropenia than those of non-neutropenic infants (P = 0.03). Conclusion Preterm infants can produce high levels of granulocyte-macrophage colony-stimulating factor and interleukin-6 in response to bacterial sepsis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310050041
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  • 5
    Electronic Resource
    Electronic Resource
    Study of pro-inflammatory (TNF-α, IL-1α, IL-6) and T-cell-derived (IL-2, IL-4) cytokines in plasma and synovial fluid of patients with juvenile chronic arthritis: Correlations with clinical and laboratory parameters (1998)
    Springer
    Clinical rheumatology 17 (1998), S. 288-292 
    Details
    ISSN: 1434-9949
    Keywords: Acute phase response ; Interleukins 1α, 2, 4, and 6 ; Juvenile chronic arthritis ; Tumour necrosis factor α
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Acute phase proteins, synovial fluid (SF) cellular infiltrates, pro-inflammatory (TNF-α, IL-1α, IL-6) and Th1 (IL-2) and Th2 (IL-4) derived cytokine levels both in plasma and SF were examined in pauciarticular and polyarticular juvenile chronic arthritis (JCA) patients during the active (n=22) and inactive (n=14) period in order to determine pathogenic mechanisms and correlations between cytokines and laboratory parameters showing disease activity. The erythrocyte sedimentation rate (ESR), serum C-reactive protein (CRP) and IgG concentrations were found to be significantly elevated in the active period of JCA. In pauciarticular JCA patients, when compared with their peripheral blood lymphocyte subpopulations, SF CD3+ cells (73.1%) and HLA-DR+ active T cells (22.5%) were found to be significantly increased. In the active period of JCA, plasma TNF-α and IL-6 concentrations were significantly elevated. Plasma IL-2 and IL-4 levels were not elevated and were found to be similar to those in the inactive phase and in healthy controls. SF IL-6, TNF-α and IL-1α levels were extremely high in all the patients. SF IL-4 and IL-2 levels were all undetectable. There was a significant correlation between ESR values and plasma IL-6 levels and between serum CRP levels and plasma IL-6 and TNF-α concentrations. In conclusion, increased local production of pro-inflammatory cytokines appears to account for the articular manifestations of JCA. The impaired production of anti-inflammatory Th2-derived cytokines (IL-4) seems to cause increased production of inflammatory cytokines acting on the balance between them. The deficit in IL-2 production was not suggested to be primarily involved in the pathogenesis. In addition, not only CRP and ESR values, but also plasma IL-6 and TNF-α concentrations may be used as markers of disease activity.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01451007
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