Calcium intake improvement after nutritional intervention in paediatric patients with osteogenesis imperfecta.

BACKGROUND: In several bone disorders, adequate calcium intake is a coadjuvant intervention to regular treatment. Osteogenesis imperfecta (OI) is a collagen disorder with a range of symptoms, ranging from fractures to minimum trauma, and it is typically treated with bisphosphonates. In the present study, we evaluate the impact of a nutritional intervention (NI) on dietary calcium intake and bone mineral density (BMD) in paediatric patients with OI. METHODS: A nonrandomised clinical trial was designed with a NI. Dietary calcium intake, anthropometry and clinical features were assessed at baseline, including anthropometry, basal metabolic rate (BMR), BMD. In addition, a food guidance form was developed and sent to patients by mail. After 12 months, clinical features of patients were reassessed and compared with the baseline data. RESULTS: Fifty-two children and adolescents were enrolled. Significant increases in total calcium intake (mg day-1 ), percentage of adequate calcium intake (%) and number of cups of milk ingested were observed after NI. We detected a positive correlation between the variation of BMD and milk consumption in patients treated with bisphosphonate. CONCLUSIONS: We observed an increase in calcium intake in patients with OI. This finding demonstrates the importance of nutrition therapy as part of a multidisciplinary treatment approach for bone health.

Genetics of homocysteine metabolism and associated disorders

Homocysteine is a sulfur-containing amino acid derived from the metabolism of methionine, an essential amino acid, and is metabolized by one of two pathways: remethylation or transsulfuration. Abnormalities of these pathways lead to hyperhomocysteinemia. Hyperhomocysteinemia is observed in approximately 5 percent of the general population and is associated with an increased risk for many disorders, including vascular and neurodegenerative diseases, autoimmune disorders, birth defects, diabetes, renal disease, osteoporosis, neuropsychiatric disorders, and cancer. We review here the correlation between homocysteine metabolism and the disorders described above with genetic variants on genes coding for enzymes of homocysteine metabolism relevant to clinical practice, especially common variants of the MTHFR gene, 677C>T and 1298A>C. We also discuss the management of hyperhomocysteinemia with folic acid supplementation and fortification of folic acid and the impact of a decrease in the prevalence of congenital anomalies and a decline in the incidence of stroke mortality.

Genetics of homocysteine metabolism and associated disorders.

Homocysteine is a sulfur-containing amino acid derived from the metabolism of methionine, an essential amino acid, and is metabolized by one of two pathways: remethylation or transsulfuration. Abnormalities of these pathways lead to hyperhomocysteinemia. Hyperhomocysteinemia is observed in approximately 5% of the general population and is associated with an increased risk for many disorders, including vascular and neurodegenerative diseases, autoimmune disorders, birth defects, diabetes, renal disease, osteoporosis, neuropsychiatric disorders, and cancer. We review here the correlation between homocysteine metabolism and the disorders described above with genetic variants on genes coding for enzymes of homocysteine metabolism relevant to clinical practice, especially common variants of the MTHFR gene, 677C>T and 1298A>C. We also discuss the management of hyperhomocysteinemia with folic acid supplementation and fortification of folic acid and the impact of a decrease in the prevalence of congenital anomalies and a decline in the incidence of stroke mortality.