Oral Ibandronate Therapy in Three Patients with Osteogenesis Imperfecta.

INTRODUCTION: Treatment with orally administered ibandronate is an effective way to increase bone mineral density (BMD) and reduce fracture rate in post-menopausal women and in men with osteoporosis. There are only very few reports concerning ibandronate therapy in children and adolescents, and in patients with osteogenesis imperfecta (OI), as bisphosphonates are not registered for therapeutic use in pediatrics. CASE REPORT: We present three patients with OI, where once-monthly oral ibandronate increased spinal BMD after two and four years, respectively, of therapy without any occurrence of new fractures and no adverse reactions. Somatic growth was not affected by the ibandronate treatment. CONCLUSION: Once-monthly oral ibandronate increased BMD and most probably improved bone quality in young patients with OI.

Infliximab plus azathioprine is more effective than azathioprine alone in achieving mucosal healing in pediatric patients with Crohn's disease.

OBJECTIVES: Over the past few years, mucosal healing (MH) has emerged as a promising goal in the treatment of pediatric patients with Crohn's disease (CD). We aimed to assess whether combination therapy with infliximab (IFX) + azathioprine (AZA) was more effective than AZA therapy alone in achieving mucosal healing in pediatric patients with CD. METHODS: Newly diagnosed pediatric patients with CD at the Department of Pediatrics in University Hospital in Hradec Králové were retrospectively recruited (2000-2014). The patients were divided into two groups according to the therapy: (a) IFX + AZA ± corticosteroids ± 5-aminosalicylic acid (5-ASA) (n = 16); and (b) AZA ± corticosteroids ± 5-ASA (n = 40). The patients were also divided into two groups: "MH" and "no MH," according to their MH status. MH was defined as the complete endoscopic disappearance of all mucosal ulcerations (including aphthous ulcerations) and the absence of any sign of mucosal inflammation in the terminal ileum and the large bowel. RESULTS: Of 56 patients, MH was observed in 56% (9/16) treated with combined therapy in comparison with 15% (6/40) of patients in the AZA group (P = 0.006). The median dose of AZA in both groups was 2.1 mg/kg per day. We observed eight adverse events in seven patients from the IFX + AZA group. Adverse effects were less common in the AZA group (P = 0.002). CONCLUSION: Combined therapy (IFX + AZA) was more effective in achieving MH in pediatric CD than treatment with AZA alone.

Urinary iodine concentrations in mothers and their term newborns in country with sufficient iodine supply.

OBJECTIVE: The main aim of the study was to evaluate maternal and newborn urinary iodine concentrations according to the usage of iodine supplementation during pregnancy. METHODS: Thirty-seven women with singleton uncomplicated pregnancies and their newborns were included in this study. Maternal urine samples were obtained at the time of delivery and on the third day after delivery. Newborn urine samples were obtained on the third day after delivery. Urinary iodine concentrations were determined by the alkaline ashing of urine specimens followed by the Sandell-Kolthoff reaction using brucine as a colorimetric marker. RESULT: The overall rate of the usage of iodine supplementation during pregnancy was 54% (20/37). Women who used the iodine supplementation during the pregnancy did not have different urinary iodine concentrations neither at the time of delivery (p = 0.23), nor on the third day after delivery (p = 0.65) in comparison to women without extra iodine supplementation. Newborns from pregnancies with regular iodine supplementation had higher urine iodine concentrations on the third day after delivery (p = 0.02). When women were split into several subgroups based on the daily dosage of iodine supplementation (200, 150, and 50 µg daily and without iodine supplementation), no differences were found in maternal urine iodine concentrations at the time of delivery (p = 0.51) and on the third day after delivery (p = 0.63). Different levels were found in newborn urine iodine concentrations among the subgroups of newborns from pregnancies with different daily doses of iodine supplementation and from pregnancies without iodine supplementation during pregnancy (p = 0.05). CONCLUSIONS: Iodine supplementation during pregnancy affects newborn urine concentrations but not maternal urine concentrations.

Markers of bone metabolism, serum leptin levels and bone mineral density in preterm babies.

The prospective study assessed the influence of serum leptin levels on markers of bone metabolism and bone mineral density in 2-year-old infants born preterm. A total of 57 randomized preterm Caucasian newborns (32nd-37th week of gestation) were included in the study. Bone metabolism markers were measured every 6 months. The infants were monitored prospectively up to the age of 2 years. When the infants turned 2 years of age, they were investigated by dual energy X-ray absorptiometry (lumbar spine). The median cord blood leptin levels was 3.07 µg/L. The median leptin level during check-ups before 2 years of age was 9.96 µg/L. The other laboratory markers were within the normal ranges for that age. The bone mineral density reached, on average, 0.410 g/cm2. Lower leptin levels in the cord blood and in the serum of preterm infants do not influence bone mineral density during the first 2 years of life.

Vitamin d status in central europe.

Little published information is available regarding epidemiological data on vitamin D status in the large geographical region of Central Europe (CE). We searched the journal literature with regard to 25(OH)D concentrations among community-dwelling or healthy people living in CE. 25(OH)D concentrations varied by age, season, study sample size, and methodological approach [i.e., 25(OH)D assay used]. Concentrations of 25(OH)D in CE appeared lower than 30 ng/mL, and the magnitude of hypovitaminosis D was similar to that reported in Western Europe. While most of the studies reviewed were cross-sectional studies, a longitudinal study was also included to obtain information on seasonal variability. The longitudinal study reported wintertime 25(OH)D values close to 21-23 ng/mL for all studied age groups, with a significant increase of 25(OH)D in August reaching 42 ng/mL for those aged 0-9 years, but only 21 ng/mL for the elderly aged 80-89 years. The decrease in 25(OH)D with respect to age was attributed to decreased time spent in the sun and decreased vitamin D production efficiency. Based on the literature review on vitamin D status in the CE populations, it can be concluded that 25(OH)vitamin D levels are on average below the 30 ng/mL level.

Practical guidelines for the supplementation of vitamin D and the treatment of deficits in Central Europe - recommended vitamin D intakes in the general population and groups at risk of vitamin D deficiency.

INTRODUCTION: Adequate Vitamin D intake and its concentration in serum are important for bone health and calcium-phosphate metabolism as well as for optimal function of many organs and tissues. Documented trends in lifestyle, nutritional habits and physical activity appear to be associated with moderate or severe Vitamin D deficits resulting in health problems. Most epidemiological studies suggest that Vitamin D deficiency is prevalent among Central European populations. Concern about this problem led to the organising of a conference focused on overcoming Vitamin D deficiency. METHODS: After reviewing the epidemiological evidence and relevant literature, a Polish multidisciplinary group formulated theses on recommendations for Vitamin D screening and supplementation in the general population. These theses were subsequently sent to Scientific Committee members of the 'Vitamin D - minimum, maximum, optimum' conference for evaluation based on a ten-point scale.With 550 international attendees, the meeting 'Vitamin D - minimum, maximum, optimum' was held on October 19-20, 2012 in Warsaw(Poland). Most recent scientific evidence of both skeletal and non-skeletal effects of Vitamin D as well as the results of panellists' voting were reviewed and discussed during eight plenary sessions and two workshops. RESULTS: Based on many polemical discussions, including post-conference networking, the key opinion leaders established ranges of serum 25-hydroxyVitamin D concentration indicating Vitamin D deficiency [< 20 ng/mL (< 50 nmol/L)], suboptimal status [20-30 ng/mL(50-75 nmol/L)], and target concentration for optimal Vitamin D effects [30-50 ng/mL (75-125 nmol/L)]. General practical guidelines regarding supplementation and updated recommendations for prophylactic Vitamin D intakes in Central European neonates, infants, children and adolescents as well as in adults (including recommendations for pregnant and breastfeeding women and the elderly) were developed. CONCLUSIONS: Improving the Vitamin D status of children, adolescents, adults and the elderly must be included in the priorities of physicians,healthcare professionals and healthcare regulating bodies. The present paper offers elaborated consensus on supplementation guidance and population strategies for Vitamin D in Central Europe.

Intravenous pamidronate in the treatment of severe idiopathic infantile hypercalcemia.

Idiopathic infantile hypercalcemia (IIH) is a rare disorder caused by CYP24A1 loss-of-function mutation, resulting in impaired degradation of 1,25-dihydroxyvitamin D3. Pamidronate, an intravenously administered bisphosphonate, which is a potent inhibitor of bone resorption, has been reported only once for treatment IIH. We present a case of a previously healthy 5-month-old boy with IIH, where calcemia peaked to 5 mmol/L. Treatment with methylprednisone and furosemide had only minor effects; therefore, 2 intravenous infusions of pamidronate (0.6 mg/kg per dose) corrected the serum calcium level to 2.95 mmol/L. Furthermore, CYP24A1 homozygous mutation p.R396W (c.1186c>t) was identified in this patient, confirming the clinical diagnosis of IIH. In conclusion, IIH has a favorable outcome once properly detected and appropriately treated. Pamidronate has a beneficial effect in those patients with IIH where glucocorticoids and furosemide fail to meet the expectations.  

Quantitative ultrasonometry of the calcaneus in children with osteogenesis imperfecta.

AIMS: Osteogenesis imperfecta (OI) is characterised by low bone density and increased bone fragility. The aim was to evaluate calcaneal quantitative ultrasonometry (QUS) parameters in children with OI and to look for relationship with the number of prevalent fractures. METHODS: Eighteen children (12 boys and six girls; mean age 9.8 ± 3.5 years) with OI (type I, n= 15; type IV, n= 3; mean fracture prevalence 3.7 per patient) had the velocity of sound (VOS) and broadband ultrasound attenuation (BUA) measured on both heels with a Cuba Clinical (McCue Ultrasonics, Winchester, UK) dry ultrasound portable device. Both BUA and VOS were expressed as either age-dependent or height-related values. The obtained values of VOS and BUA were correlated to number of prevalent fractures. RESULTS: The patients were of short stature (Z-score -1.73 ± 1.20 SD; P < 0.001). Both age-related BUA and VOS were low in comparison to reference values (P < 0.0001), same as height-adjusted BUA and VOS (P < 0.0001). We found no correlations between number of prevalent fractures and BUA or VOS (age-related or height-adjusted) (r= 0.02, r= 0.017, r=-0.13, r= 0.015, respectively). CONCLUSIONS: Children with OI have low QUS parameters with no relationship to number of prevalent fractures.