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proliferation. Although the clinical features of MAS have been well documented, early diagnosis can be difficult. Measurement of the serumferritin level may assist in the diagnosis and may be a useful indicator of disease activity, therapy response, and prognosis. The recognition that MAS belongs to the secondary or reactive hemophagocytic syndromes has led to the proposal to rename it according to the contemporary classification of histiocytic disorders. Cyclosporin A has been found effective in patients
. Hematologic results of athletes were compared to results of non-athletes matched by age and gender (14 males, 17 females). The blood analysis was done on an ADVIA 120. To compare measurement of ferritin, erythropoietin, and soluble transferrin receptor in serum as well as in EDTA-plasma, serum and EDTA-blood was obtained from the control group. In hemoglobin and hematocrit we found no significant difference between the two groups, whereas the number of erythrocytes was lower in athletes. The mean (...) Comparison of hematologic data in world elite junior speed skaters and in non-athletic juniors. During the world junior speed skating championship 2002 all athletes (60 males, 56 females) were subjected to hematologic blood testing one day before the competition as requested by International Skating Union--ISU. This study aimed to obtain hematological reference values for junior athletes, whilst the influence of endurance training on hematologic variables of young athletes was studied
used the independent variables lactate value at 10 km.h-1, left ventricular telediastolic diameter (LVD) and lactate value at 22 km.h-1. The model for the female group used the independent variables subscapular skinfold, serumferritin and sum of six skinfolds. Our study demonstrates that in males and females, physiological parameters can explain the variance in marathon time among elite homogeneous groups.
(transferrin saturation and ferritin) were found, although iron intake increased by supplementation with the onset of training. Serum markers of training stress were not significantly altered. In conclusion, Greek top-level swimmers should be guided toward a balanced diet and a rational use of supplements. Monitoring of dietary intakes during a competitive season is highly recommended. (...) Imbalanced nutrition of top-level swimmers. The aim of the present study was to monitor the nutritional status of 9 Greek national top-level swimmers during a competitive season of eight months. The swimmers were assessed through recording of food and supplement intake, blood sampling, and anthropometry at four landmarks: in the beginning of the season (baseline), after completing a phase of intensive and voluminous training (at 10 weeks), at a minor taper (19 weeks), and during the major taper
biochemical parameters in association with clinical assessment; serum iron, ferritin, transferrin, percent transferrin saturation, sodium, potassium, chloride, calcium, magnesium, phosphate, urate, urea and creatinine, total protein, albumin, creatine kinase (CK), lactate dehydrogenase, aspartate aminotransaminase (AST), alanine aminotransferase, alkaline phosphatase, gamma-glutamyl transpeptidase, total bilirubin, cholesterol and triglycerides (non-fasting), and random glucose.18 athletes showed (...) -Barr virus infection, which was suspected because of an abnormal liver function test. The other abnormalities found appeared not to be of clinical significance.Most abnormalities found on routine biochemical screening in elite athletes are of no clinical significance, therefore such testing should, if used only for clinical purposes, be abandoned. When athletes are tested for iron status it would be prudent to include assessment of serum cholesterol in those with a family history of hyperlipidaemia.
supplementation and improving performance in the iron-depleted nonanemic athlete. An athlete's iron status is usually monitored via serumferritin. Currently, there is no standardized ferritin level at which supplementation is recommended, nor is there a consensus as to the appropriate maintenance of ferritin. Screening endurance athletes or female athletes in general for iron deficiency and also educating these athletes regarding the importance of a balanced diet to maximize performance would seem prudent (...) Iron as an ergogenic aid: ironclad evidence? Iron supplementation for the iron-depleted nonanemic athlete is a controversial issue. Athletes may be iron deficient due to poor dietary intake, significant or obligatory blood loss, or deficiency via increased need secondary to intense physical activity. Athletes who are found to be anemic secondary to iron deficiency do benefit and show improved performance with appropriate iron supplementation. There is contradictory evidence for iron
blood into the right basal ganglia and were killed 1, 3, 7, 14, or 28 days later. Enhanced Perl's reaction was used for iron staining, and brain nonheme iron content was determined. Brain heme oxygenase-1, transferrin, transferrin receptor, and ferritin were examined by Western blot analysis and immunohistochemistry. Immunofluorescent double labeling was performed to identify which cell types express ferritin.ICH upregulated heme oxygenase-1 levels and resulted in iron overload in the brain (...) . A marked increase in brain nonheme iron was not cleared within 4 weeks. Brain transferrin and transferrin receptor levels were also increased. In addition, an upregulation of ICH on ferritin was of very long duration.The iron overload and upregulation of iron-handling proteins, including transferrin, transferrin receptor, and ferritin, in the brain after ICH suggest that iron could be a target for ICH therapy.
, lens photography, and venipuncture for measurement of serumferritin levels and DNA extraction. Sequence analysis of the iron-responsive element of the ferritin light chain on chromosome 19q13.3-qter was performed.We investigated 26 affected individuals from 5 Australian pedigrees. Two pedigrees with HHCS ascertained independently were subsequently found to form 1 large kindred carrying the mutation A40G. The minimum estimated prevalence of HHCS is 1/200000. One pedigree had the mutation G32C
Arterial stiffness and endothelial function in patients with beta-thalassemia major. Increased iron store has been linked to risk of cardiovascular disease. Structural alterations of arteries in beta-thalassemia major patients and in vitro functional disturbance of vascular endothelial cells by thalassemic serum have been described. We sought to determine whether arterial stiffness and endothelial function are altered in vivo.Thirty thalassemia patients (16 male) aged 22.2+/-7.4 years were (...) and PWV correlated inversely with magnitude of FMD (r=-0.40, P=0.03; r=-0.41, P=0.03) and positively with indexed LV mass (r=0.50, P=0.005; r=0.40, P=0.027). Nonetheless, no significant correlation existed between ferritin level and carotid stiffness, PWV, or FMD.Increased arterial stiffness, endothelial dysfunction, and LV hypertrophy occur in patients with beta-thalassemia major, which may result in reduction of mechanical efficiency of the heart.
. Serial analysis of gene expression (SAGE) was performed to identify and quantify gene transcripts. Genes over- and underexpressed by Fuchs' endothelium were limited to P < 0.01 by the method of Audic and Claverie.A total of 19,136 tags were identified with 9,530 from normal and 9,606 from Fuchs' endothelium. The expression of 18 transcripts was upregulated, and 36 transcripts were downregulated in Fuchs' endothelium compared with normal tissue. Upregulated transcripts included serum amyloid A1 and A2 (...) , metallothionein, and apolipoprotein D. Of the downregulated transcripts, 26 matched known genes, 3 matched expressed sequence tags (ESTs), and 7 were unknown to current databases. One downregulated transcript involved a newly reported bicarbonate transporter. Decreased transcripts related to antioxidants and proteins conferring protection against toxic stress were noted in Fuchs' versus normal endothelium including nuclear ferritin, glutathione S-transferase-pi, and heat shock 70-kDa protein. Nine different
normal limits, but serum 25(OH) vitamin D (19.3 +/- 1.6 ng/ml) and 1,25(OH)2 vitamin D (33.77 +/- 1.51 pg/ml) levels were decreased. Serum insulin-like growth factor I (IGF-I; 145.2 +/- 20 ng/ml) was suppressed, whereas serumferritin (1366.6 +/- 253.9 ng/ml) was markedly elevated. Reduced bone mineral density was found in all studied areas. Trabecular bone volume was significantly decreased (16.65 +/- 1.12%), whereas bone formation rate, eroded surface, and other bone histomorphometric parameters (...) were within normal limits. The trabecular bone volume varied significantly with bone mineral density of total femur (r = 0.48, p = 0.04). There was an extensive stainable iron surface on the mineral front (9-60%). Significant correlation between serum IGF-I, serumferritin, stainable iron surface, and bone mineral density, lumbar spine, and total femur were found. Serum IGF-I correlated with trabecular bone volume (r = 0.6, p = 0.03), inversely with both serumferritin level (r = -0.6, p < 0.01
, concomitant with laboratory abnormalities. Fever was present for a median of 19 days before the diagnosis of HPS. Elevated serum lactate dehydrogenase and ferritin levels were noted in all patients. An infectious agent was identified in 42% of patients; 16% were found to have immunologic or vasculitic disease. HPS is a rare but often fatal disease that can initially present as fever of unknown origin with varying clinical findings, and it can be recognized by physicians who are familiar with the evolution
genotypes and the variation of serum iron tests according to HFE genotype and other factors were studied in persons from well-characterized hemochromatosis pedigrees. Subjects were tested for both C282Y and H63D mutations. The following factors were studied: age, sex, alcohol consumption, body mass index, liver function tests, serum lipids and glucose, serum iron, transferrin saturation, and ferritin. HLA-inferred heterozygotes were C282Y heterozygotes in only 70% and compound heterozygotes (i.e (...) ., heterozygotes for both C282Y and H63D) in 20%. C282Y heterozygotes did not differ from wild type homozygotes in terms of serum iron tests. Only compound heterozygotes presented with slightly increased transferrin saturation. On the other hand, increased serumferritin was strongly associated with overweight or lipidic or glucose abnormalities. C282Y heterozygotes selected from family studies do not have greater serum iron tests than wild type homozygotes, except for compound heterozygotes, and therefore
=0.01) were highly concordant in C282Y homozygotes. Heterozygote siblings were concordant for serumferritin (r=0.76, P=0.0001) and transferrin saturation (r=0.79, P=0.0001). Homozygote-normal same-sex dizygotic twins were concordant for serumferritin (r=0.62, P=0.0001) but not for transferrin saturation.Concordance of iron indices exists in C282Y homozygote and heterozygote sibling pairs. Siblings of expressing C282Y heterozygotes require phenotypic assessment. These data provide evidence (...) of disease expression, and guidance for family screening strategies of subjects heterozygous for the C282Y mutation.We compared the iron indices of 35 C282Y homozygous and 35 C282Y heterozygous same-sex sibling pairs. To clarify whether concordance between siblings was due to environmental or genetic factors we compared the iron indices of 164 C282Y homozygous-normal, same-sex dizygotic twins.Serum ferritin (r=0.50, P=0.003), hepatic iron concentration (r=0.61, P=0.025) and hepatic iron index (r=0.67, P
overload entity, which corresponds to a particular phenotypic expression (high serumferritin values contrasting with relatively low transferring saturation, and important Kupffer cell iron deposition as compared to hepatocytic iron excess) with poor tolerance of venesection therapy and a dominant pattern of inheritance. Given this dominant transmission, the mixed Causasian-Asian origin of our Asian proband leaves open the issue of the ethnic origin of the new mutation.
patients.Allele frequencies of the C282Y and H63D mutation did not differ between HCV patients and healthy controls (6.95 vs. 6.2%; 14.75 vs. 16.4%; n.s.). HFE heterozygous HCV patients had higher ferritin (349+/-37 vs. 193+/-15 microg/l; P<0.0005), TS (38+/-2 vs. 32+/-1%; P<0.0005), serum iron (144+/-6 vs. 121+/-3 microg/dl; P<0.0005), semiquantitative liver iron staining (0.26+/-0.07 vs. 0.09+/-0.03; P<0.006) and fibrosis scores (1.9+/-0.2 vs. 1.4+/-0.1; P<0.003) compared to HFE wildtypes. By multivariate (...) HFE mutations and chronic hepatitis C: H63D and C282Y heterozygosity are independent risk factors for liver fibrosis and cirrhosis. The impact of heterozygous HFE mutations on the course of chronic hepatitis C and iron indices was studied.Ferritin, transferrin saturation (TS), serum iron, C282Y and H63D mutations were determined in 401 patients with chronic hepatitis C virus (HCV) infection and 295 healthy controls. Liver histologies were available in 217 and HCV genotypes in 339
in a random group of 2095 subjects (55 years and over). In this random group, we selected within the six genotype groups a total of 342 individuals and measured their serum transferrin saturation, iron and ferritin levels. We also estimated the heritability and parameters needed to evaluate screening, including the sensitivity, specificity, positive and negative predictive values (PPV, NPV) of HFE genotypes. Iron parameters were significantly increased in subjects homozygous, heterozygous or compound (...) heterozygous. The effect of the mutations was more pronounced in men than in women. For the H63D mutation, an allele dose effect was observed. The HFE gene explained about 5% of the variability in serum iron indices. The PPV for hemochromatosis for the C282Y homozygous was 100% in men and 67% in women. The NPV of the wild-type allele was 97% for both men and women. The sensitivity of both mutations was 70% for men and 52% for women and the specificity was 62% for men and 64% for women. Our study shows
significant increments in haemoglobin compared with the non-responder group (n = 6) (P < 0.05). No significant differences were found between the responder and non-responder groups in terms of duration of diabetes mellitus, serum creatinine level, 24-h urine albumin excretion rates, frequency of diabetic microangiopathy, or HbA1c. There was no difference between the two groups in terms of serum iron and total iron-binding capacity (TIBC). Serumferritin level was significantly higher in the responder
Porphyria cutanea tarda with menopausal exacerbation: the possible role of menstruation as natural phlebotomy. We describe a 48-year-old woman with a 12-year history of porphyria cutanea tarda who showed a remarkable exacerbation of her eruptions accompanied by high serum levels of iron and ferritin at menopause. As iron storage is known to be a triggering factor of porphyria cutanea tarda, the possible role of menstruation as natural phlebotomy to prevent porphyria cutanea tarda exacerbation
Development of an HCV infection risk stratification algorithm for patients on chronic hemodialysis. The prevalence of hepatitis C virus (HCV) in patients on chronic hemodialysis (HD) is near 9%. Transaminases, which are lower in HD patients, are not effective in screening for HCV. Our aim was to design an HCV risk stratification strategy incorporating lowered aminotransferase levels and other clinical parameters.Patient serum from 168 consecutive HD patients was analyzed for AST, ALT, ferritin