Foetal haemoglobin elevation, unfavourable prognosis, and protective role of genetic variants rs7482144, rs9399137 and rs4671393 in children with ALL.

In acute lymphoblastic leukaemia (ALL), elevated foetal haemoglobin (HbF) levels have been associated with the prognosis of patients. Genetic variants in HbF regulatory genes: BAF chromatin remodelling complex subunit (), HBS1L-MYB transcriptional GTPase intergenic region (), Krüppel-like factor 1 (), haemoglobin gamma subunit 2 (), haemoglobin gamma subunit 1 (HBG1), and haemoglobin subunit beta pseudogene 1 () are often associatedwith elevatedHbF concentration. This study investigated the association of genetic variants in HbF regulatory genes with HbF concentration, unfavourable prognosis, and outcome in children with ALL.

Diminished cortical bone density of long bones among children with haemophilic arthropathy.

Introduction: Children with haemophilia (CwH) have lower bone mineral density in the spine (trabecular bone) than healthy children. There are few studies focusing on bone mineral density in long bones (cortical bone).

Aim: To evaluate bi-laterally the distal third of radius and midshaft tibias using quantitative ultrasound (QUS) and assess the speed of sound (SoS).

Prevalence of inhibitors and clinical characteristics in patients with haemophilia in a middle-income Latin American country.

Introduction: Development of inhibitors is the most serious complication in patients with haemophilia (PWH). The prevalence of inhibitors in patients with severe haemophilia A (HA) is approximately 25%-30%. Inhibitor prevalence differs among populations.

Genetic biomarkers related to hemarthrosis, inflammation, and cartilage structure in pediatric patients with hemophilic arthropathy.

Background: The pathophysiology of hemophilic arthropathy is complex and not completely understood. In this study, we aimed to identify biomarkers that can affect the hemophilic arthropathy severity.

Methods: Fifty patients were analyzed for biomarker frequencies; in 37 patients, articular symptoms were evaluated based on the physical joint examination score, and in 18, it was based on magnetic resonance imaging.

[Depression in school children and adolescents carriers of acute leukemia during the treatment phase].

Unlabelled: Objective: To describe depression levels in school aged children and adolescents with acute leukemia during the treatment.

Materials And Methods: This transversal descriptive study took place during January to September 2012 and included school aged children and adolescents, carriers of acute leukemia, in treatment at a high-ranking specialty hospital. A modified Kovacs questionnaire (C O/) was applied.

Thrombin generation as objective parameter of treatment response in patients with severe haemophilia A and high-titre inhibitors.

In Mexico, 15% of haemophilia A (HA) patients develop inhibitory alloantibodies in response to replacement therapy with factor VIII (FVIII), requiring bypass therapy such as activated prothrombin complex concentrate (APCC). Because bypass therapy has not been broadly available in Mexico even in recent years, this study aimed to evaluate the thrombin generation assay (TGA) in assessing the response to FVIII or APCC treatment in patients with severe HA positive to inhibitors. We studied 189 patients with severe HA.

Bone turnover markers and bone mineral density in children with haemophilia.

During childhood growth, bone undergoes modelling involving separate osteoblastic and osteoclastic processes. Markers of bone turnover circulate at high concentrations, parallel the childhood growth curve and correlate with height velocity. The aim of this study was to compare serum markers of bone turnover in children with haemophilia and normal bone mineral density (BMD) vs.

Functional independence score in hemophilia: a cross-sectional study assessment of Mexican children.

Background: The Functional Independence Score in Hemophilia (FISH) is a performance-based assessment tool used to measure the patients functional ability so far only used in patients with severe hemophilia. Its aim is to determine if FISH is useful in patients with mild and moderate disease.

Procedure: In a cross-sectional study 90 children 60 hemophilic and 30 sex-, race-, and age-matched healthy males were assessed.