Thrombophilia and varicella zoster in children.

From 2005 to 2011, 25 children of both sexes (13 boys and 12 girls, mean age 7.8 ± 2.5 years, 5-12.4 years) with acute varicella zoster virus (VZV) infection were selected. Five patients showed venous thromboembolism characterized by deep venous thrombosis (DVT). Comparison of activated partial thromboplastin time, antithrombin III, D-dimer, lupus anticoagulant, free S protein (PS), C protein, and antiphospholipid and PS antibodies was performed on children with acute VZV and DVT (group I), acute uncomplicated VZV (group II), and 30 healthy controls of both sexes (15 boys and 15 girls, mean age 7.5 ± 2.6 years, group III). Genetic thrombophilic mutations (Factor V Leiden, MTHFR C677T, and Prothrombin G20210A) were evaluated. Coagulation disorders and PS antibody were found in children with acute VZV (groups I and II). Significant differences were shown among the three groups (P < 0.05). Acute VZV infection could be associated with coagulation disorders and production of inhibitory PS antibodies in many uncomplicated cases.

Chronic immune thrombocytopenic purpura in childhood: pathogenetic mechanisms and management.

A population of 26 children of both sexes mean age 8.5 ± 5.8 years with thrombocytopaenic purpura, disease duration at least 7 months (2.5 ± 1.8 years), platelet count 22 000 ± 12 000/mm(3) was studied. Patients were divided into three age groups; I: 2-6 years (8 children); II: 7-10 years (10 children); III: 11-16 years (8 patients). Careful history, physical examination, complete blood count with blood smear, platelet autoantibodies, bone marrow aspirate, and response to intravenous immunoglobulins (IV Igs) were evaluated. Statistical analysis was performed by χ(2) test. Platelet count, duration of disease, megakaryocytic reduction, need of splenectomy were significantly lower in younger children than older children of III group (P < 0.05). All patients were responsive to IV Ig. No significant differences of presence of platelet autoantibodies, were found among the groups. Relapse after splenectomy was observed in four older patients among whom three had Evans syndrome: complete remission was obtained with rituximab. Disease duration appears to be associated to megakaryocytic alterations and patient age.

Effect of Helicobacter pylori eradication on platelet count in children with chronic idiopathic thrombocytopenic purpura.

Recent reports have suggested, particularly in adults, an association between Helicobacter pylori infection (HPI) and chronic idiopatic thrombocytopenic purpura (cITP) with improvement of platelet count after eradication therapy. We investigated the association of HPI and cITP and the effect of HP eradication therapy on thrombocytopenia in a population of 24 children of both sexes mean age 8.0+/-0.28 years (range 5.4-10.7 years), affected by cITP (PLT 0.05). Non-significant differences were found in platelet count between infected and uninfected patients before eradication treatment (PLT 33.0+/-2.8 x 10(9)/l versus 34.0+/-5.75 x 10(9)/l) (P>0.05), while significant differences were observed after eradication therapy (PLT 315.0+/-7.07 x 10(9)/l versus 43.5+/-2.12 x 10(9)/l) (P<0.05). HP assessment should be performed in all cITP patients and eradication therapy should be attempted in positive cases.

Impact of the MTHFR C677T polymorphism on risk of Wilms tumor: case-control study.

Methylentetrahydrofolate reductase C677T genotype was assessed in 35 patients of both sexes aged between 3.2 and 5.4 years affected by Wilms tumor (WT) and in 70 random controls. Statistical analysis was performed comparing frequency of WT methylentetrahydrofolate reductase genotypes with 70 controls and a larger Italian population. The homozygous TT and heterozygous CT genotypes were associated with a significantly higher frequency of WT than CC genotype. By reducing tissue folate concentrations and inducing hypomethylation both TT and CT genotypes could be risk factors for WT (odds ratio >1).

Cardiac involvement in beta-thalassemia major and beta-thalassemia intermedia.

The forms and severity of cardiac complications were investigated in patients with asymptomatic thalassemia intermedia and thalassemia major by M-mode, bi-dimensional echocardiography (ECHO) and echo-Doppler. Twenty-eight patients of both sexes with beta-thalassemia intermedia (beta-TI), mean age 23.2 +/- 6.3 years, untransfused or minimally transfused, were compared to 42 age- and sex-matched subjects with thalassemia major, who were regularly treated with hemotransfusive therapy [pre-transfusion hemoglobin (Hb) values 9.5 +/- 0.9 g/dL] and iron chelation. All patients were splenectomized. Age and sex matched healthy control subjects were randomly selected. beta-Thalassemia major (beta-TM) patients showed a marked reduction in contractile state and a milder left ventricular (LV) enlargement than beta-TI patients. Cardiac output (CO) and cardiac index (CI) were increased in both groups of patients but appeared significantly higher in beta-TI patients with consequent altered LV diastolic function indices. In addition, beta-TI patients had reduced indices of pulmonary artery flow related to long-term chronic anemia rather than iron overload. The progressive rise in CO and CI casts doubts on the current management of beta-TI syndromes.

Role of polymorphic sequences 5' to the G(gamma) gene and 5' to the beta gene on the homozygous beta thalassemic phenotype.

Sixty-seven homozygous male and female thalassemic patients with different phenotypes, aged between 8 and 33 years, were divided into three groups, according to the severity of their beta-thalassemia (thal) mutations. We investigated whether some co-inherited genetic factors could influence the phenotype. Patients with milder beta-thal defects, homozygotes or compound heterozygotes for the IVS-I-6 (T-->C) or -87 (C-->G) mutations had a milder disease. In addition, determination of the co-inheritance of the -158 (C-->T) G(gamma) polymorphism and the (AT)9T5 repeat motif in the region -540 to -525, 5' to the beta-globin gene, showed that in some patients with severe or mild/severe beta-thal mutations, linked to haplotype III, there was higher Hb F expression. We conclude that in homozygous beta-thal patients, the severity of the mutations is the most important factor influencing the phenotype, but some polymorphisms such as the -158 (C-->T) G(gamma) and (AT)9T5 repeat motif, increasing the Hb F expression and ameliorate the clinical course of the disease.

Pulsed Doppler tissue imaging and myocardial function in thalassemia major.

Few studies are available on left ventricular diastolic function in beta-thalassemia major, and these have conflicting results. Our aim in this study was to analyze myocardial systolic and diastolic functions in patients with beta-thalassemia major using, for the first time, pulsed Doppler tissue imaging (DTI), and compare data with standard Doppler echocardiography. We studied 30 young patients with beta-thalassemia major (age

Effect of VDR polymorphisms on growth and bone mineral density in homozygous beta thalassaemia.

We examined the effect of vitamin D receptor (VDR) polymorphisms at exon 2 (FokI) and intron 8 (BsmI) on the stature and bone mineral density at femoral neck (FBMD) and lumbar spine (LBMD) in 108 prepubertal and pubertal homozygous beta thalassaemic patients, regularly treated. We found significantly shorter stature and lower LBMD and FBMD in all patients with CC VDR genotype, and significant shorter height and lower LBMD in prepubertal and pubertal female patients with BB VDR genotype. Because homozygous CC and BB VDR genotypes influence Vitamin D activity, they can be considered additional risk factors for bone disease in beta thalassaemia.