O Makitie

..Guidelines in Finland recommend 10 μg of vitamin D3 daily for all infants. Recent observations suggest that this may be insufficient to maintain optimal serum 25-hydroxyvitamin D (S-25-OHD)...

..We have previously shown that primary osteoporosis can be caused by heterozygous missense mutations in the Low-density lipoprotein receptor-related protein 5 (LRP5) gene, and the role of LRP5 is further investigated here...

..We speculate that complete loss of mutant transcripts yields COL10A1 haploinsufficiency and late clinical presentation while incomplete loss of mutant transcripts yields dominant-negative effects with early clinical presentation...

..These data suggest that treatment commenced in early infancy results in improved outcome in patients with XLH, but does not completely normalize skeletal development...

..Our findings suggest that COL10A1 mutations result in a uniform pattern of growth plate abnormalities. However, the clinical variability in severity among affected individuals is greater than previously thought...

..On the other hand, mutations in different genes can result in similar phenotypes. Careful clinical assessment with thorough radiographic evaluation are of key importance...

..GH may improve phosphate balance and height in X-linked hypophosphatemic rickets (XLH). This study evaluated the impact of exclusive rhGH therapy on phosphate homeostasis and growth...

..The resulting endocrinopathies and their treatment may impact bone health. The purpose of our study was to assess bone health and its correlates in adult patients with APECED...

..Despite overlap, both clinically and radiographically, with other forms of MED, the described features may help to differentiate this particular form from other entities within the MED spectrum...

..The results suggest that the characteristic skeletal changes are present in all patients with SDS and SBDS mutations, but their severity and localization varies with age. No phenotype-genotype correlation was observed...

..These features may result from a generalized defect in cell proliferation...

..The skeletal phenotype in ARHP may be significantly more severe than in other forms of hypophosphatemic rickets...

..Hip dysplasia and patella hypermobility dominates the otherwise mild phenotype. These patients further expand the range of causative mutations in the DTD skeletal dysplasia family...

..Postnatal vitamin D supplementation improved vitamin D status but only partly eliminated the differences in bone variables induced by maternal vitamin D status during the fetal period...

..We conclude that body growth and erythropoiesis share common regulators. One of these is the GH-IGF-I axis; other factors, as not yet identified, may also be important...

..These observations show that UPD may occur in an unexpectedly high number of the patients and should be taken into account in the genetic counselling and prenatal diagnostics of CHH families...

..Maternal vitamin D status may program neonatal skeletal development. The objective here was to determine the association of mothers' vitamin D status with bone variables of their newborns...

..To assess the value of spinal radiographs in determining the significance of reductions in bone mass or density in chronically ill children...

..Whether childhood-onset intermittent hypercalciuria contributes to hypertension and renal complications in adulthood remains to be elucidated in future studies...

..The risk of scoliosis is increased in patients with solid organ transplantation. Pediatricians treating these patients should be aware of this increased risk to diagnose early curves and to refer these patients to an orthopedic surgeon...

..Concurrently, the incidence of forearm and upper arm fractures has increased by one-third. The reasons for these epidemiologic changes remain to be elucidated in future studies...

..We hypothesized that VLBW is associated with reduced bone mineral density (BMD) in adulthood...

..It is unknown whether the method could be used in pediatrics. This study evaluated the diagnostic accuracy of DXA images in vertebral fracture assessment (VFA) in children...

..We assessed glucose tolerance and insulin sensitivity and measured serum lipid levels and blood pressure in young adults with very low birth weight...

..35 fractures/1000 persons/year; p < 0.001) in the study group compared with the control population. Thus, screening of vertebral fractures at regular intervals is recommended, and preventive strategies should be studied...

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..These findings suggest that normal body fat content is beneficial for bone health in growing children and adolescents while both low and high body fat content have adverse skeletal effects...

..This line of treatment may be suitable especially for craniofacial FD in which surgical treatment is particularly challenging...

..Cartilage-hair hypoplasia (CHH) is an autosomal recessive chondrodysplasia with severe growth failure and impaired immunity. Impaired immunity may result in increased mortality...

..This cross-sectional study evaluated the overall bone health and the prevalence of vertebral complications after stem cell transplantation (SCT) in prepubertal children and adolescents...

..The findings suggest that patients with mutations in the SBDS gene have a characteristic magnetic resonance imaging pattern of fat-replaced pancreas and that SBDS mutations are unlikely in patients without this pattern...

..We evaluated skeletal characteristics and their association with ALL therapy in long-term male ALL survivors...

..Importantly, bone strength at the radius appears equal to healthy children. Prophylactic treatment seems to have a beneficial effect on bone health...

..The observed BMD results were satisfactory. However, the high (8%) prevalence of vertebral fractures warrants careful evaluation of bone health in these patients...

..A skeletal dysplasia is also an integral feature of SDS. The present study assessed prevalence and determinants of osteopenia and osteoporosis in patients with SDS and disease-causing mutations in the SBDS gene...

..This study evaluated whether LRP5 variation is implicated in childhood fractures...

..To our knowledge, this is the first time bone biopsy and bone mineral densitometry studies have been performed and bisphosphonate treatment evaluated in a child with CED...

..70). Aromatase inhibition suppresses bone turnover, possibly through an androgen-mediated effect. In pubertal boys, treatment stimulates cortical bone growth by increasing the testosterone-to-estradiol ratio...

..Cartilage-hair hypoplasia (CHH) is a chondrodysplasia with growth failure, impaired immunity, and high incidence of Hirschsprung disease (HD). This study describes the outcome of CHH patients with HD...

..In this study, the prevalence of osteoporosis was evaluated in patients operated on for cloacal exstrophy or persistent cloaca and who had undergone bladder augmentation...

..Early identification and adequate intervention, in selected cases with bisphosphonates, is needed in order to prevent deleterious skeletal complications of osteoporosis in chronically ill children...

..TNF-α modulator treatment thus does not appear to provide sufficient amelioration for patients suffering from cherubism...

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..The observed OGTT-induced changes in bone-derived proteins were partially independent of each other and potentially mediated by different mechanisms...

..004) and higher LS Z-score (p = 0.005) than older patients. In conclusion, adolescent liver recipients are prone to osteoporosis and prevention should be targeted especially to this age group...

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..To evaluate bone health and growth and their correlates in glucocorticoid (GC)-treated pediatric patients with juvenile idiopathic arthritis (JIA)...

..To assess the prevalence, predictors, and course of bronchiectasis in patients with cartilage-hair hypoplasia...

..Whether this is due to influence on bone mass acquisition or on bone loss thereafter has not been established...

..To evaluate the risk of osteopenia in patients after intestinal bladder augmentation...

..Animal models implicate a role for LRP5 in lipid and glucose homeostasis. The objective was to evaluate metabolic consequences of LRP5 mutations in humans...

..The underlying pathogenetic mechanisms remain to be elucidated in future studies. Careful follow-up, extending beyond pediatric age, is warranted for early diagnosis of malignancies...

..If AIs are used in growth indications, follow-up of vertebral morphology is indicated...

..Intestinal bladder augmentation predisposes the patient to many complications. The aim of this study was to determine whether augmentation has an adverse effect on growth...

..We suggest that these novel findings are also manifestations of GPS...

..These results also add to the increasing evidence that PSACH and EDM1 are rER storage diseases and that impaired linear growth and joint erosion are caused by the disruptive effect of massive amounts of COMP within the chondrocytes...

..22q11 deletion syndrome (22q11DS) is characterized by conotruncal cardiac defects and hypoplasia of parathyroid glands and thymus, which result in variable hypoparathyroidism (HPT) and immune deficiency...

..This paper demonstrates the importance of prompt diagnosis and management in neonatal hyperparathyroidism and the role of various imaging modalities in its diagnosis and follow-up...

..To evaluate an approach to the clinical, radiographic, and molecular diagnosis of an underlying skeletal dysplasia in adults presenting with early-onset polyarticular osteoarthritis (OA)...