Major Patients (major + patient)

Distribution by Scientific Domains

Kinds of Major Patients

  • thalassaemia major patient
  • thalassemia major patient

  • Selected Abstracts

    Impaired oxygen kinetics in beta-thalassaemia major patients

    ACTA PHYSIOLOGICA, Issue 3 2009
    I. Vasileiadis
    Abstract Aim:, Beta-thalassaemia major (TM) affects oxygen flow and utilization and reduces patients' exercise capacity. The aim of this study was to assess phase I and phase II oxygen kinetics during submaximal exercise test in thalassaemics and make possible considerations about the pathophysiology of the energy-producing mechanisms and their expected exercise limitation. Methods:, Twelve TM patients with no clinical evidence of cardiac or respiratory disease and 10 healthy subjects performed incremental, symptom-limited cardiopulmonary exercise testing (CPET) and submaximal, constant workload CPET. Oxygen uptake (Vo2), carbon dioxide output and ventilation were measured breath-by-breath. Results:, Peak Vo2 was reduced in TM patients (22.3 7.4 vs. 28.8 4.8 mL kg,1 min,1, P < 0.05) as was anaerobic threshold (13.1 2.7 vs. 17.4 2.6 mL kg,1 min,1, P = 0.002). There was no difference in oxygen cost of work at peak exercise (11.7 1.9 vs. 12.6 1.9 mL min,1 W,1 for patients and controls respectively, P = ns). Phase I duration was similar in TM patients and controls (24.6 7.3 vs. 23.3 6.6 s respectively, P = ns) whereas phase II time constant in patients was significantly prolonged (42.8 12.0 vs. 32.0 9.8 s, P < 0.05). Conclusion:, TM patients present prolonged phase II on-transient oxygen kinetics during submaximal, constant workload exercise, compared with healthy controls, possibly suggesting a slower rate of high energy phosphate production and utilization and reduced oxidative capacity of myocytes; the latter could also account for their significantly limited exercise tolerance. [source]

    Correlation of echocardiography parameters with cardiac magnetic resonance imaging in transfusion-dependent thalassaemia major

    Athanassios Aessopos
    Abstract Background and objective:,Heart iron load (cardiac Fe) can be indirectly quantified by cardiac magnetic resonance (CMR) T2*. CMR accessibility is limited, whereas echocardiography (Echo) is relatively inexpensive and readily available. The objective was to find Echo parameters that may be useful for predicting cardiac Fe. Design and methods:,We compared a number of parameters derived from Echo to cardiac Fe in 142 thalassaemia major patients who had undergone a CMR study. Results:,All patients with decreased left ventricular (LV) function had cardiac Fe. After removing those patients from the analysis, the total diameter index (Tdi) >5.57 cms/m2, left atrial diameter index >2.41 cm/m2, and the diastolic parameter E/A > 1.96 were highly specific (91.4%, 97.1% and 96.9% respectively) but had low sensitivity (31.8%, 20.45% and 21.8%) in predicting iron load. A right ventricular index >1.47 cm/m2, LV systolic index >2.26 cm/m2 or Tdi >6.26 cm/m2 discriminated between patients with no, or mild to moderate cardiac Fe from those with heavy load, with specificity of 91%, 98.5%, and 98.5%, respectively, but with low sensitivity. Interpretation and conclusions:,Echo parameters for cardiac Fe prediction have restricted value, whereas CMR is essential to assess cardiac Fe. However, patients with decreased LV systolic function should be considered a priori as having cardiac Fe, and chelation therapy should be intensified. This also applies to patients who have the above-described Echo criterion values, even if CMR is not available. Once a patient is found by CMR to have cardiac Fe, then the above Echo criterion values may be useful for ongoing monitoring. [source]

    Combined therapy of silymarin and desferrioxamine in patients with ,-thalassemia major: a randomized double-blind clinical trial

    Marjan Gharagozloo
    Abstract Silymarin, a flavonolignan complex isolated from Silybum marianum, has a strong antioxidant, hepatoprotective, and iron chelating activities. The present study was designed to investigate the therapeutic activity of orally administered silymarin in patients with thalassemia major under conventional iron chelation therapy. A 3-month randomized, double-blind, clinical trial was conducted in 59 ,-thalassemia major patients in two well-matched groups. Patients were randomized to receive a silymarin tablet (140 mg) three times a day plus conventional desferrioxamine therapy. The second group received the same therapy but a placebo tablet instead of silymarin. Clinical laboratory tests were assessed at the beginning and the end of the trial, except for serum ferritin level that was assessed at the middle of the trial as well. Results of this study revealed that the combined therapy was well tolerated and more effective than desferrioxamine in reducing serum ferritin level. Significant improvement in liver alkaline phosphatase and glutathione levels of red blood cells was also observed in silymarin-treated ,-thalassemia patients. However, no significant difference in serum ferritin levels was detected between silymarin and placebo groups after 1.5 and 3 months treatment, probably because of insufficient sample size to detect subtle changes in ferritin levels between groups. This is the first report showing the beneficial effects of silymarin in thalassemia patients and suggests that silymarin in combination with desferrioxamine can be safely and effectively used in the treatment of iron-loaded patients. [source]

    Antiphospholipid antibodies and hepatitis C virus infection in Iranian thalassemia major patients

    Summary Although the precise nature of Antiphospholipid antibodies is still not clearly defined, they are known to have association with thromboembolic events and have been found in hepatitis C virus (HCV) infection. Moreover, high prevalence of HCV infection and thrombotic risk is described in thalassemia. We aimed at investigating the prevalence of anticardiolipin antibodies (aCLAbs), lupus anticoagulant (LA), and their relation with HCV infection in Iranian thalassemic patients. Presence of anti-HCV antibody, serum HCV-RNA, aCLAbs, and LA activity was determined in 131 patients with thalassemia major (male/female: 63/68 aged 3,29 years) registered at thalassemia unit, Dastgheib Hospital, Shiraz, Iran. Sixty-one healthy controls were also included. Anti-HCV antibody was positive in 24 (18.3%), IgG aCLAbs in 56 (42.7%), and LA activity in 9 (6.9%) patients. 87.5% of patients positive for aCLAbs had a low titer of aCLAbs. Although none of the participants had a previous history of thrombosis, higher prevalence of aCLAbs was detected in thalassemic patients compared with controls. No significant difference in the prevalence of aCLAbs was found between HCV-infected and noninfected patients. A high prevalence of aCLAbs, the majority in low titers, was detected in Iranian thalassemic patients irrespective of previous history of thrombosis and presence of HCV infection. [source]

    Preferential patterns of myocardial iron overload by multislice multiecho T*2 CMR in thalassemia major patients

    Antonella Meloni
    Abstract T*2 multislice multiecho cardiac MR allows quantification of the segmental distribution of myocardial iron overload. This study aimed to determine if there were preferential patterns of myocardial iron overload in thalassemia major. Five hundred twenty-three thalassemia major patients underwent cardiac MR. Three short-axis views of the left ventricle were acquired and analyzed using a 16-segment standardized model. The T*2 value on each segment was calculated, as well as the global value. Four main circumferential regions (anterior, septal, inferior, and lateral) were defined. Significant segmental variability was found in the 229 patients with significant myocardial iron overload (global T*2 <26 ms), subsequently divided into two groups: severe (global T*2 <10 ms) and mild to moderate (global T*2 between 10 and 26 ms) myocardial iron overload. A preferential pattern of iron store in anterior and inferior regions was detected in both groups. This pattern was preserved among the slices. The pattern could not be explained by additive susceptibility artifacts, negligible in heavily iron-loaded patients. A significantly higher T*2 value in the basal slice was found in patients with severe iron overload. In conclusion, a segmental T*2 cardiac MR approach could identify early iron deposit, useful for tailoring chelation therapy and preventing myocardial dysfunction in the clinical setting. Magn Reson Med, 2010. 2010 Wiley-Liss, Inc. [source]

    Standardized T2* map of normal human heart in vivo to correct T2* segmental artefacts

    NMR IN BIOMEDICINE, Issue 6 2007
    Vincenzo Positano
    Abstract A segmental, multislice, multi-echo T2* MRI approach could be useful in heart iron-overloaded patients to account for heterogeneous iron distribution, demonstrated by histological studies. However, segmental T2* assessment in heart can be affected by the presence of geometrical and susceptibility artefacts, which can act on different segments in different ways. The aim of this study was to assess T2* value distribution in the left ventricle and to develop a correction procedure to compensate for artefactual variations in segmental analysis. MRI was performed in four groups of 22 subjects each: healthy subjects (I), controls (II) (thalassemia intermedia patients without iron overload), thalassemia major patients with mild (III) and heavy (IV) iron overload. Three short-axis views (basal, median, and apical) of the left ventricle were obtained and analyzed using custom-written, previously validated software. The myocardium was automatically segmented into a 16-segment standardized heart model, and the mean T2* value for each segment was calculated. Punctual distribution of T2* over the myocardium was assessed, and T2* inhomogeneity maps for the three slices were obtained. In group I, no significant variation in the mean T2* among slices was found. T2* showed a characteristic circumferential variation in all three slices. The effect of susceptibility differences induced by cardiac veins was evident, together with low-scale variations induced by geometrical artefacts. Using the mean segmental deviations as correction factors, an artefact correction map was developed and used to normalize segmental data. The correction procedure was validated on group II. Group IV showed no significant presence of segmental artefacts, confirming the hypothesis that susceptibility artefacts are additive in nature and become negligible for high levels of iron overload. Group III showed a greater variability with respect to normal subjects. The correction map failed to compensate for these variations if both additive and percentage-based corrections were applied. This may reinforce the hypothesis that true inhomogeneity in iron deposition exists. Copyright 2007 John Wiley & Sons, Ltd. [source]

    Daily alternating deferasirox and deferiprone therapy for "hard-to-chelate" ,-thalassemia major patients,

    Manuela Balocco
    No abstract is available for this article. [source]

    Magnetic resonance evaluation of hepatic and myocardial iron deposition in transfusion-independent thalassemia intermedia compared to regularly transfused thalassemia major patients,

    Ali T. Taher
    No abstract is available for this article. [source]

    Severe iron overload in Blackfan-Diamond anemia: A case-control study,

    Simona Roggero
    Chronic iron overload is a serious complication in transfusion-dependent patients. Few studies have addressed this issue in Diamond-Blackfan anemia (DBA). We describe a retrospective analysis of iron overload, and its related complications in 31 transfusion-dependent Italian DBA patients whose records included one or more evaluation of liver iron concentration (LIC) by means of noninvasive magnetic liver susceptometry with a superconductive quantum interference device (SQUID). This cohort is also matched with a group of transfusion-dependent ,-thalassemia major patients to look for differences. A severe iron overload was observed in 54% patients, especially among those inadequately chelated. The DBA patients displayed a significantly higher LIC than the regularly chelated ,-thalassemics. This difference may have been attributable to nonoptimal chelation (late onset, type, dose, prescription, and compliance), or an unknown biological mechanism that lead to an early severe iron overload. We therefore suggest that all transfusion patients should have an accurate record of their iron intake, a regular monitoring of iron overload, in order to start chelation when a critical transfusion load is reached, and to test the efficacy/compliance of chelation treatment. Physicians taking care of transfusion-dependent DBA patients must be concerned about the frequent and early complications such as cardiac toxicity. Am. J. Hematol., 2009. 2009 Wiley-Liss, Inc. [source]

    Relationship between SP1 polymorphism and osteoporosis in ,-thalassemia major patients

    Ozlem Guzeloglu-Kayisli
    Abstract Background: ,-Thalassemia is an autosomal recessive disease characterized by defective ,-globin chain production. Osteoporosis is an important cause of morbidity in patients with ,-thalassemia major. The pathogenesis of reduced bone mineral density (BMD) is multifactorial. A range of genetics factors have been implicated in other populations of patients with osteoporosis. Polymorphism at the Sp1 binding site of the collagen type I A1 (COLIA1) gene is thought to be an important factor in the development of osteoporosis. Methods: Alleles S and s, detected by presence of a G or T nucleotide, respectively in a regulatory site of the COLIA1 gene were investigated in 37 ,-thalassemia major patients with osteoporosis and 92 controls without osteoporosis or osteopenia using polymerase chain reaction,restriction fragment length polymorphism. Results: Fifteen and nine ,-thalassemia major patients displayed SS and Ss genotypes, respectively, whereas 13 were found to have an ss genotype. The mean BMD of the ,-thalassemia major patients with ss genotype was similar to those with the Ss and SS genotypes. In the control group, 77 and 15 subjects had SS and Ss genotypes, respectively, with no ss genotype. Allelic and genotypic distribution in patients were significantly different from controls. Conclusion: Determining base substitutions at the Sp1 binding site on the COLIA1 gene in early years may be important in preventing osteoporosis in children with ,-thalassemia major. [source]

    Increased ,-globin gene expression in ,-thalassemia intermedia patients correlates with a mutation in 3,HS1

    Adamantia Papachatzopoulou
    We report a novel set of genetic markers in the DNaseI hypersensitive sites comprising the human ,-globin locus chromatin hub (CH), namely HS-111 and 3,HS1. The HS-111 (,21 G>A) and 3,HS1 (+179 C>T) transitions form CH haplotypes, which occur at different frequencies in ,-thalassemia intermedia and major patients and normal (nonthalassemic) individuals. We also show that the 3,HS1 (+179 C>T) variation results in a GATA-1 binding site and correlates with increased fetal hemoglobin production in ,-thalassemia intermedia patients. In contrast, the HS-111 (+126 G>A) transition, found in three normal chromosomes, is simply a rare polymorphism. We conclude that the CH haplotypes are useful genetic determinants for ,-thalassemia major and intermedia patients, while the 3,HS1 (+179 C>T) mutation may have functional consequences in ,-globin genes expression. Am. J. Hematol., 2007. 2007 Wiley-Liss, Inc. [source]

    Pseudoxanthoma elasticum-like lesions in association with thalassaemia major

    Shirley Yu
    ABSTRACT A 33-year-old woman with a background of thalassaemia major presented with a 3-month history of yellowish plaques on the back of her neck bilaterally and alterations in the texture of the skin in both axillae. Examination of these lesions showed yellowish cobblestone plaques and coalescing papules in both axillae. Pseudoxanthoma elasticum (PXE)-like lesions were confirmed histopathologically. PXE-like lesions in association with thalassaemia major are an uncommon occurrence. Due to the increase in the survival rate of thalassaemia major patients on treatment, the development of these lesions is likely to increase. The histopathological manifestation of these lesions mimics that of hereditary PXE and is associated with severe vascular complications. This case highlights the importance of recognising this rare disorder and the role dermatologists have in establishing the diagnosis and advising on appropriate screening for complications. [source]

    Noninvasive assessment of liver fibrosis in thalassaemia major patients by transient elastography (TE) , lack of interference by iron deposition

    Vito Di Marco
    Summary The correlation between liver stiffness, measured by transient elastography, liver fibrosis, using the histological METAVIR score, and iron overload, measured by atomic absorption spectrometry was evaluated in 56 homozygous-,-thalassaemics. Liver stiffness increased proportionally to liver fibrosis staging (r = 070; P > 0001) independently of liver iron concentration (r = 001; P = 0932). The area under the receiver-operating characteristic curve for prediction of cirrhosis was 0997 (95% confidence interval [CI]: 0925,1000) with cut-off of 13 kPa with 100% sensitivity (95% CI: 690,1000) and 95% specificity (95% CI: 842,993). Transient elastography is a reliable non-invasive tool for diagnosing advanced liver fibrosis in homozygous-,-thalassaemics, regardless of the degree of iron overload. [source]

    Exercise capacity and cardiovascular changes in patients with ,-thalassaemia major

    Filippo Tocco
    Summary Despite the introduction of deferoxamine, 50% of thalassaemia major patients die before the age of 35 years predominantly from iron induced heart failure. Indeed, the assessment of myocardial performance may be of particular interest since it can reveal an early myocardial dysfunction. By using impedance cardiography and mass spectrometry, we studied the cardiac function and the oxygen extraction ratio (O2ER) of 14 thalassaemic patients and 15 control healthy subjects during an incremental cycle-ergometer test. The achieved mechanical power output and the relative O2 uptake did not reach any significant difference between groups. At the highest workload, O2ER reached significantly higher values in thalassaemic patients versus control subjects while the relationship between cardiac index (CI) and O2ER (CI/O2ER) decreased showing a lower contribution of cardiovascular system to maintain O2 uptake. Results of this study imply that CI/O2ER allows an early diagnosis of the iron induced myocardial dysfunction, whereas it is not clinically patent yet. To our knowledge, this is the first study revealing an O2ER pivotal role as compensatory mechanism to maintain a normal working capacity in subjects suffering from thalassaemia major. [source]