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. those with low BMD. In a cross-sectional study, 69 children with haemophilia were evaluated, 45 children with normal spine BMD vs. 24 with low BMD. Lumbar spine BMD was determined using dual X-ray absorptiometry and Z-scores were calculated. Serum samples of markers of bone turnover, osteocalcin (bone formation) and C-telopeptide of type I collagen (bone resorption) were measured using ELISA. The mean BMD (g cm -2) in the normal group was 0.656�0.15 vs. 0.558�0.12 in those with low BMD (P=0.007), osteocalcin levels in children with normal BMD were 9.29�4.97 vs. 7.06�2.17ng ?L -1 in the low BMD group (P=0.012). C-telopeptide levels in the normal group were 1.06�1.4 vs. 0.74�0.3ng mL -1 in the low BMD group (P=0.169). Our results showed that low osteocalcin levels predominated in the group with low BMD, which indicates a diminished osteoblastic bone formation activity while there were no differences with regard to bone resorption markers. Moreover, osteocalcin levels explain 10% of the variation of lumbar spine Z-score. � 2010 Blackwell Publishing Ltd

Fourier transform methods applied to an optical heterodyne profilometer

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. Patients between 5 and 16 years of age were selected each patient was evaluated in seven activities under three categories: self-care (grooming and eating, bathing, and dressing), transfers (chair and squat), and locomotion (walking and step climbing). Each activity was graded from 1 to 4 according to the amount of assistance required to perform the activity with total scores ranging from 7 to 28. Results. As a whole, the mean age of the patients was 10.0 3.4 years with a mean FISH of 25.8 3.6 (range 15-28). There were no differences in the FISH between healthy males and patients with mild hemophilia; however, the score was significantly higher in patients with mild hemophilia (28 0) than patients with moderate (26.2 2.5; P=0.004) or severe hemophilia (24.0 4.7; P=0.0006). The most affected activities were squatting, walking, and step climbing. Conclusions. A significant decrease in functional ability was demonstrated according to the severity of hemophilia, especially for those activities involving weight-bearing demands like locomotion and step climbing. Of seven activities evaluated, changes were observed in the groupwith moderate and severe hemophilia, but no changes detected in patients with mild disease. " 2009 Wiley-Liss, Inc.",,,,,,"10.1002/pbc.22291",,,"http://hdl.handle.net/20.500.12104/41629","http://www.scopus.com/inward/record.url?eid=2-s2.0-76749104679&partnerID=40&md5=126e92e98ee68fa8dae84e4b75469e19",,,,,,"3",,"Pediatric Blood and Cancer",,"39

Is executive function intact after pediatric intracranial hemorrhage? A sample of Mexican children with hemophilia

The goal of this study was to examine executive functioning outcomes in children with hemophilia who have suffered intracranial hemorrhage. We assessed 10 boys with hemophilia with intracranial hemorrhage; 6 boys with hemophilia without intracranial hemorrhage; and 10 healthy boys as controls. Intellectual functioning was assessed with subscales from the Wechsler Intelligence Scale for Children-Mexican Revision. Concept formation and reasoning, cognitive flexibility, and planning and organization domains from a neuropsychological assessment battery for Spanish-speaking children were employed for our analysis. Results indicated that children with intracranial hemorrhage demonstrated significant impairment on some measures of executive function compared with the control groups. All differences reflected poorer performance by the intracranial hemorrhage group. These results may reflect the impact of disruption to immature brain circuits and the deficiency of functional specificity within the immature brain. This is the only known study examining neuropsychological functioning in Mexican youth with hemophilia. © The Author(s) 2013

Methylenetetrahydrofolate reductase C677T polymorphism and Factor V Leiden variant in Mexican women with preeclampsia/eclampsia

The etiology of preeclampsia is still a matter of controversy. An association between hyperhomocysteinemia and preeclamptic patients has been described. A common missense mutation in the methylenetetrahydrofolate reductase (MTHFR) gene is associated with increased plasma homocysteine concentrations. In addition, the polymorphism of gene encoding for Factor V Leiden G1691A is associated with a prothrombotic state in heterozygous subjects. Both mutations in these thrombophilic proteins appear to have different prevalence in the general population and in patients with preeclampsia/eclampsia (PE/E). We studied single nucleotide polymorphisms for MTHFR C677T and coagulation Factor V Leiden in 33 Mexican patients with PE/E as a genetic risk factor for these diseases, comparing with a normotensive pregnant control group. The genotype and allele frequencies of MTHFR C677T and Factor V Leiden mutations between Mexican women with PE/E and healthy controls were not different. We conclude that these polymorphisms do not contribute in the etiology of PE/E as it has been reported in other populations. � 2005 Elsevier Inc. All rights reserved