Uncoupling of Bone Turnover may Compromise Skeletal Health of Young Patients With Haemophilia A.

There is evidence that bone mass is decreased and bone metabolism is dysregulated in children with haemophilia (CWH). The objective of this study was to investigate the impact of haemophilia on skeletal health in children, with regards to bone mineral density (BMD) and metabolic bone profile. This study included 51 male CWH A. Dual-energy X-ray absorptiometry (DXA) was performed to assess BMD in lumbar spine (LS) and total body less head (TBLH) and Z-scores were calculated (low BMD Z-score<-2, low-normal BMD Z-score between -1 and -2). Serum levels of osteocalcin (OC), procollagen type I C-terminal propeptide (PICP), bone alkaline phosphatase (bALP), bone tartrate-resistant acid phosphatase 5b (TRAP5b), vitamin D, parathormone (PTH), urinary calcium/creatinine (uCa/uCr) and urine deoxypyridinoline/creatinine (uDPD/uCr) were measured. Mean BMD Z-scores were lower than predicted at both sites of measurement. More specifically, 10% of CWH A had low and 20% low-normal BMD Z-scores in LS, whereas 9.1% had low-normal TBLH BMD Z-scores and there were no patients with low BMD Z-scores at this site of measurement. 36.7% of CWH had low vitamin D levels and 19.6% had a history of fracture. Also, patients with haemophilia had lower OC and higher uDPD/uCr levels while OC positively correlated to BMD Z-scores and uDPD/uCr negatively correlated to BMD Z-scores at both sites. No statistically significant differences were observed with regards to mode of treatment, number of haemorrhages and the presence of target-joints. CWH A had decreased BMD Z-scores at both sites with an uncoupling of bone turnover LS BMD seemed to be more affected than TBLH BMD.

Chronic Hemolysis May Adversely Affect Skeletal Health. A Cross-Sectional Study of a Pediatric Population.

Hereditary hemolytic disorders cause ineffective erythropoiesis and bone marrow hyperplasia. Little is known about their effect on growth and skeletal health. The aim of this study was to evaluate growth, bone and body composition of non transfusion-dependent (NTD) pediatric patients with chronic hemolysis. A detailed history and clinical examination, dual-energy X-ray absorptiometry (DXA) of the lumbar spine (LS) and total body less head (TBLH) and bone turnover markers were performed. Thirty-nine patients (22 males and 17 females, 20 prepubertal), aged 11.4 ± 3.6 years [14 had ß-thalassemia intermedia (ß-TI), 17 α-thalassemia (α-thal) and eight hereditary spherocytosis (HS)] were evaluated. Fifty-seven previously studied controls were used for statistical analysis. The patients had lower weight and body mass index (BMI) (Z-scores -0.2 and -0.3, respectively, p < 0.05). Post-traumatic fractures were reported by 28.0% of the patients. Compared to controls, they had lower lumbar and subcranial bone mineral density (BMD), as well as reduced fat mass (FM), whereas muscle mass was not affected. One in three patients had low vitamin D and there was increased bone resorption and reduced bone formation. Correlations between different parameters revealed a potential role of osteocalcin, hemoglobin (Hb) and lactate dehydrogenase (LDH) as prognostic markers for bone health, in the setting of chronic hemolysis. Hereditary spherocytosis (HS) patients were the least affected in terms of growth and bone profile. Chronic hemolysis may lead to impaired growth and bone health, even in young, NTD patients. The degree of hemolysis determines bone health risk. Regular surveillance of bone health is justifiable.

Body composition of patients with Duchenne muscular dystrophy: the Greek experience.

Greece ranks among the first countries suffering from the obesity epidemic globally. The aim of the study was to evaluate body composition in Greek patients with Duchenne muscular dystrophy (DMD). We hypothesized that able-bodied patients would not differ from controls, in terms of adiposity, based on clinical observations during everyday practice. STUDY DESIGN: Cross-sectional study of steroid-dependent DMD subjects, who underwent dual-energy X-ray absorptiometry and laboratory metabolic bone profile evaluation. Forty-two patients and thirty-one controls were studied. Overall, DMD subjects were shorter (height Z-score = -1.4, p = 0.01). Their bone mineral density (BMD) was low (lumbar spine BMD Z-score = -1.2, p < 0.01, subcranial total body BMD Z-score = -1.8, p < 0.01). Lean tissue mass (LTM) was also decreased (LTM Z-score = -2.2, p < 0.01). The above findings were more pronounced in adolescence. Regarding adiposity, increased fat mass (FM) was found only in pubertal DMD patients (FM Z-score = 1.4, p < 0.01), whereas prepubertal, able-bodied patients did not differ from controls, thus confirming the initial hypothesis. Finally, 65 % of DMD subjects had increased bone resorption markers and 57 % had suboptimal vitamin D levels. The importance of using native population as controls for body composition analysis is highlighted. In Greece, abnormal body composition in DMD patients is more striking when loss of ambulation occurs and not during the prepubertal period, due to the concurrent presence of obesity in the pediatric population. Thus, adolescents with this neuromuscular disorder should be targeted toward prompt lifestyle interventions.

Bone health evaluation of children and adolescents with homozygous ß-thalassemia: implications for practice.

OBJECTIVE: Bone tissue is adversely affected in patients with homozygous ß-thalassemia. The aim of this study was to find warning signs of bone loss in young patients with ß-thalassemia and allow prompt therapeutic interventions. METHODS: Thirty-eight patients were studied, 20 boys and 18 girls, aged 5 to 18 years (median = 14.13 y), on regular transfusions and chelation treatments. Their bone mineral density (BMD) was measured with dual x-ray absorptiometry. The recorded parameters were weight, height, bone age (BA), transfusion adequacy (mean fetal hemoglobin value), and chelation efficacy (mean ferritin value, compliance). Tanner stage was also evaluated: 8 prepubertal subjects (stage 1), 18 peripubertal subjects (stages 2 and 3), and 12 postpubertal patients (stages 4 and 5). Blood and urine samples were collected for biochemical analysis. RESULTS: Mean BMD z score was -1.56 ± 1.25. Thirteen patients had normal BMD (z score >-1), 17 patients had low BMD (z score: -1 up to -2.4), and 8 patients had very low BMD (z score <-2.5). Low BMD was observed in patients older than 12 years and was associated with short stature (r = 0.33, P = 0.04), delayed BA (r = 0.61, P = 0.01), and increased bone formation markers. There was no correlation of BMD z score with sex, fetal hemoglobin value, ferritin, and compliance. Regarding Tanner stage, it was associated strongly with short stature (r = 0.57, P = 0.01), ferritin (r = -0.38, P = 0.02), and compliance (r = 0.58, P = 0.01). CONCLUSIONS: [corrected] The decline in BMD may start early, even in the well-transfused patients. This study targets the young patients who are mostly at the risk for bone loss, that is short adolescents with delayed BA. Their prompt recognition in everyday practice is important, as they will need close monitoring of their BMD and metabolic bone profile. In addition, therapeutic interventions, such as adequate calcium intake and sunlight exposure, weight-bearing exercise and, in cases of vitamin D insufficiency, proper supplementation could be suggested.

Serum copper and zinc levels in healthy greek children and their parents.

The aim of this study was to investigate whether there is a correlation between copper (Cu) and zinc (Zn) levels in children and their parents, considering their nutritional habits. Cu and Zn concentrations were measured by flame atomic absorption spectrophotometry in the serum of 66 healthy children, aged 3-14 years, and their parents, residing in a region of Greece (Thrace). Cu levels were higher in mothers than those in fathers, but they were lower in both parents than those in children. They also tended to decrease with age in both parents and children, whereas Zn levels significantly increased with age in children. There was a positive correlation between children's and mothers' Zn levels, as well as children's and both parents' Cu levels. Children used to eat meat, fish, vegetables, and legumes as frequently as their parents, but they were consuming more eggs, milk, and fruits than the latest. Regarding parents' diet, higher Zn levels were depended on the consumption of meat and milk, whereas higher Cu levels were depended on the consumption of milk. Consequently, children's Cu and Zn levels are related to their parents' levels, which can be influenced by their nutritional habits.

Serum copper and zinc concentrations in healthy children aged 3-14 years in Greece.

Zinc (Zn) and copper (Cu) are essential trace elements in people, being required for functional activity of several enzyme systems. In this study, we determined Cu and Zn concentrations in the serum of 105 healthy children randomly selected, aged 3-14 yr, residing in a region of Greece (Thrace), and we investigated their association with children's gender, age, height, weight, and nutritional habits. The mean levels of Zn and Cu were 15.01 +/- 2.95 micromol/L and 26.18 +/- 5.47 micromol/L, respectively, with no significant difference between boys and girls. Asignificant positive correlation was found between age and Zn levels, and a negative one was found between age and Cu levels. Both Zn and Cu levels tended to increase with height, whereas Zn levels significantly decreased with increasing body mass indent (BMI). The consumption of meat, milk, and eggs were independent determinants for higher Zn levels, and the consumption of legumes and fruits were independent determinants for higher Cu levels. Asignificant negative correlation was found between Zn and Cu levels. In conclusion, our study, the first one evaluating the serum status of Cu and Zn in healthy Greek children, identified significant correlations of Zn and Cu levels with their age, height, BMI, and nutritional habits.