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Chemical abnormalities.

This article provides an in-depth summary of standard and recently developed biochemical assays that are useful for the evaluation of the patient with metabolic bone disease. In addition, each of the common metabolic bone diseases is discussed in the context of the associated chemical abnormalities.

Neutral sphingomyelinase 2 deficiency increases hyaluronan synthesis by up-regulation of Hyaluronan synthase 2 through decreased ceramide production and activation of Akt.

Fibroblasts from the fro/fro mouse, with a deletion in the Smpd3 gene coding for the active site of neutral sphingomyelinase 2 (NSMase2), secreted increased amounts of hyaluronan (HA). This was reversed by transfection with the Smpd3 gene, suggesting a connection between sphingolipid and glycosaminoglycan metabolism. The deficiency of NSMase2 resulted in storage of sphingomyelin (SM) and cholesterol with a 50% reduction in ceramides (Cer). RT-PCR and Western blot analysis showed that increased HA secretion resulted from increased hyaluronan synthase 2 (HAS2) activity localized to sphingolipid-

Fetal lung volume measurements using 3D ultrasonography.

PURPOSE: The aim of the study was to establish fetal lung, thoracic and heart volume nomograms using three-dimensional (3D) ultrasonographic measurements. MATERIALS AND METHODS: For this purpose a total of 300 fetuses were examined between 18 and 34 weeks of gestation using Voluson 530 ME and Voluson 730 PRO (General Electic, USA) ultrasound devices with 5 MHz three-dimensional annular volume transducers. To determine fetal lung volume, each lung was measured separately using a transversal sectional plane in the multiplanar mode. Measurements were performed by area tracing around the fetal lu

Malignant hyperthermia, coexisting disorders, and enzymopathies: risks and management options.

Clinical episodes and abnormal laboratory tests compatible with a diagnosis of malignant hyperthermia have been observed in patients with a diversity of syndromes, enzymopathies, and coexisting disorders thereby raising the likelihood of causal associations and heightened perioperative risk in others carrying a shared diagnosis. In the present review, we survey available published series, case reports, and the results of contracture testing in patients identified by others to be potentially predisposed to malignant hyperthermia. For most conditions, evidence for a causal relationship with mali

Bisphosphonate treatment for children with disabling conditions.

Fractures are a frequent source of morbidity in children with disabling conditions. The assessment of bone density in this population is challenging, because densitometry is influenced by dynamic forces affecting the growing skeleton and may be further confounded by positioning difficulties and surgical hardware. First-line treatment for pediatric osteoporosis involves conservative measures, including optimizing the management of underlying conditions, maintaining appropriate calcium and vitamin D intake, encouraging weight-bearing physical activity, and monitoring measurements of bone mineral

Dentinogenesis and Tooth-Alveolar Bone Complex Defects in BMP9/GDF2 Knockout Mice.

Tooth development is regulated by sequential and reciprocal epithelium-mesenchymal interactions and their related molecular signaling pathways, such as bone morphogenetic proteins (BMPs). Among the 14 types of BMPs, BMP9 (also known as growth differentiation factor 2) is one of the most potent BMPs to induce osteogenic differentiation of mesenchymal stem cells. The purpose of this study was to examine potential roles of BMP9 signaling in tooth development. First, we detected the expression pattern of BMP9 in tooth germ during postnatal tooth development, and we found that BMP9 was widely expre

Feasibility of Dual Energy X-Ray Absorptiometry Based Images for Measurement of Height, Sitting Height, and Leg Length in Children.

BACKGROUND: Interpretation of pediatric bone mineral density by dual energy absorptiometry (DXA) requires adjustment for height (Ht). This is often not easily obtainable in nonambulant subjects. AIMS: To investigate the feasibility of using DXA images to evaluate measurements of Ht, sitting height (SH), and leg length (LL). METHODOLOGY: A total of 2 observers performed measurements of Ht, SH, and LL on 3 separate occasion using DXA digital images in 125 children. Intraclass correlation and relative technical error of measurement (rTEM) were performed to assess reliability of repeated measure

Osteoporosis-pseudoglioma syndrome: clinical, genetic, and treatment-response study of 10 new cases in Greece.

Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal-recessive disorder, characterized by severe osteoporosis and early-onset blindness. Loss of function mutations in the gene encoding low-density lipoprotein receptor-related protein 5 (LRP5) have been established as the genetic defect of the disease. We report the clinical and genetic evaluation of ten OPPG cases in eight related nuclear families and their close relatives. Bone mineral density (BMD) in OPPG patients was assessed by dual-energy X-ray absorptiometry (DXA). Genotyping of LRP5 gene and targeted detection of index mutatio

Bone health in children and adolescents with chronic diseases that may affect the skeleton: the 2013 ISCD Pediatric Official Positions.

The aim of this Task Force was to review the use of dual-energy X-ray absorptiometry (DXA) in children and adolescents with underlying chronic diseases that pose risk factors for compromised bone health, such as inflammation, glucocorticoid therapy, or decreased mobility. The Task Force systematically analyzed more than 270 studies, with an emphasis on those published in the interval since the original 2007 Position Statements. Important developments over this period included prospective cohort studies demonstrating that DXA measures of areal bone mineral density (aBMD) predicted incident frac

Vascular thrombohemorrhagic disorders: hereditary and acquired.

This review has summarized the more important diseases that may be accompanied by or lead to a disorder of hemostasis or thrombosis via alterations of the vasculature. It is to be stressed that the vascular component of hemostasis is often overlooked by clinicians caring for patients with disorders of hemostasis and thrombosis. It should be appreciated that the vasculature is intricately related to the coagulation protein system and to platelets when involved in thrombohemorrhagic diatheses. Although many vascular disorders may lead to hemorrhage or thrombosis, it must be appreciated that ofte

Early-Onset Osteoporosis: Rare Monogenic Forms Elucidate the Complexity of Disease Pathogenesis Beyond Type I Collagen.

Early-onset osteoporosis (EOOP), characterized by low bone mineral density (BMD) and fractures, affects children, premenopausal women and men aged <50 years. EOOP may be secondary to a chronic illness, long-term medication, nutritional deficiencies, etc. If no such cause is identified, EOOP is regarded primary and may then be related to rare variants in genes playing a pivotal role in bone homeostasis. If the cause remains unknown, EOOP is considered idiopathic. The scope of this review is to guide through clinical and genetic diagnostics of EOOP, summarize the present knowledge on rare monoge

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… Osteogenesis imperfecta. Lancet. 2016;387(10028):1657‐1671. 20. Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. 1979;16(2):101‐116. 21. Marini JC, Forlino A, Bachinger HP, et al. Osteogenesis imperfecta. Nat Rev Dis Primers. 2017;3:17052. 22. … Pamidronate does not adversely affect bone intrinsic material properties in children with osteogenesis imperfecta. Bone. 2006;39(3):616‐622. 159. Rauch F, Travers R, Parfitt AM, Glorieux FH. Static and dynamic bone histomorphometry in children with osteogenesis imperfecta. …

Skeletal Dysplasias: What Every Bone Health Clinician Needs to Know.

PURPOSE OF REVIEW: This review highlights how skeletal dysplasias are diagnosed and how our understanding of some of these conditions has now translated to treatment options. RECENT FINDINGS: The use of multigene panels, using next-generation sequence technology, has improved our ability to quickly identify the genetic etiology, which can impact management. There are successes with the use of growth hormone in individuals with SHOX deficiencies, asfotase alfa in hypophosphatasia, and some promising data for c-type natriuretic peptide for those with achondroplasia. One needs to consider that a

[Cytokines in bone diseases. Wnt signaling and osteoporosis-pseudoglioma syndrome].

Wnt signaling system plays essential roles in development, cancer and bone metabolism. Canonical wnt signaling, which involves wnt ligands, receptor named frizzled and co-receptors LRP5/6, beta-catenin and transcription factors named LEF/TCF is well characterized and its defect causes bone abnormalities. The loss-of-function type of the LRP5 gene mutation is responsible for osteoporosis-pseudoglioma syndrome. In addition, the LRP6 gene mutation leads to osteoporosis and metabolic syndrome. Thus, wnt signaling system is one of determinant factors for bone mineral density.