F Rauch

Summary

Affiliation: McGill University
Country: Canada

Publications

  1. ncbi request reprint The rachitic bone
    Frank Rauch
    Genetics Unit, Shriners Hospital for Children, Montreal, Quebec, Canada
    Endocr Dev 6:69-79. 2003
  2. pmc Genotype-phenotype correlations in autosomal dominant osteogenesis imperfecta
    I Mouna Ben Amor
    Shriners Hospital for Children and McGill University, Montreal, QC, Canada H3G 1A6
    J Osteoporos 2011:540178. 2011
  3. doi request reprint Cortical and trabecular bone density in X-linked hypophosphatemic rickets
    Moira Cheung
    Shriners Hospital for Children and Department of Pediatrics, McGill University, Montreal, Quebec, Canada H3G 1A6
    J Clin Endocrinol Metab 98:E954-61. 2013
  4. doi request reprint Mutations in WNT1 are a cause of osteogenesis imperfecta
    Somayyeh Fahiminiya
    Department of Human Genetics, McGill University and Genome Quebec Innovation Center, Montreal, Quebec, Canada
    J Med Genet 50:345-8. 2013
  5. doi request reprint Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients
    Frank Rauch
    Shriners Hospital for Children, Montreal, Quebec, Canada
    J Med Genet 50:21-4. 2013
  6. doi request reprint Lack of circulating pigment epithelium-derived factor is a marker of osteogenesis imperfecta type VI
    Frank Rauch
    Genetics Unit, Shriners Hospital for Children, and McGill University, Montreal, Quebec, Canada H3G 1A6
    J Clin Endocrinol Metab 97:E1550-6. 2012
  7. ncbi request reprint Muscle force and power in obese and overweight children
    R Rauch
    University of Western Ontario, Department of Paediatrics, London, Ontario, Canada
    J Musculoskelet Neuronal Interact 12:80-3. 2012
  8. doi request reprint Serum 24,25-dihydroxyvitamin D concentrations in osteogenesis imperfecta: relationship to bone parameters
    Thomas Edouard
    Genetics Unit, Shriners Hospital for Children, 1529 Cedar Avenue, Montreal, Quebec, Canada H3G 1A6
    J Clin Endocrinol Metab 97:1243-9. 2012
  9. ncbi request reprint The dynamics of bone structure development during pubertal growth
    F Rauch
    Shriners Hospital for Children, Montreal, Quebec, Canada
    J Musculoskelet Neuronal Interact 12:1-6. 2012
  10. ncbi request reprint Bone mass, size, and density in children and adolescents with osteogenesis imperfecta: effect of intravenous pamidronate therapy
    Frank Rauch
    Genetics Unit, Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada
    J Bone Miner Res 18:610-4. 2003

Collaborators

Detail Information

Publications116 found, 100 shown here

  1. ncbi request reprint The rachitic bone
    Frank Rauch
    Genetics Unit, Shriners Hospital for Children, Montreal, Quebec, Canada
    Endocr Dev 6:69-79. 2003
  2. pmc Genotype-phenotype correlations in autosomal dominant osteogenesis imperfecta
    I Mouna Ben Amor
    Shriners Hospital for Children and McGill University, Montreal, QC, Canada H3G 1A6
    J Osteoporos 2011:540178. 2011
    ..Here we describe genotype-phenotype correlations in OI patients who have mutations affecting collagen type I. This paper is based on findings in a large single-centre OI population and a review of the literature...
  3. doi request reprint Cortical and trabecular bone density in X-linked hypophosphatemic rickets
    Moira Cheung
    Shriners Hospital for Children and Department of Pediatrics, McGill University, Montreal, Quebec, Canada H3G 1A6
    J Clin Endocrinol Metab 98:E954-61. 2013
    ..X-linked hypophosphatemic rickets is caused by mutations in PHEX. Even though the disease is characterized by disordered skeletal mineralization, detailed bone densitometric studies are lacking...
  4. doi request reprint Mutations in WNT1 are a cause of osteogenesis imperfecta
    Somayyeh Fahiminiya
    Department of Human Genetics, McGill University and Genome Quebec Innovation Center, Montreal, Quebec, Canada
    J Med Genet 50:345-8. 2013
    ..Rare recessive forms of OI, caused by mutations in genes involved in various aspects of bone formation, have been described as well...
  5. doi request reprint Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients
    Frank Rauch
    Shriners Hospital for Children, Montreal, Quebec, Canada
    J Med Genet 50:21-4. 2013
    ..Recent research has shown that OI type V is caused by a recurrent c.-14C>T mutation in IFITM5. In the present study, we assessed all patients diagnosed with OI type V at our institutions for the presence of the IFITM5 mutation...
  6. doi request reprint Lack of circulating pigment epithelium-derived factor is a marker of osteogenesis imperfecta type VI
    Frank Rauch
    Genetics Unit, Shriners Hospital for Children, and McGill University, Montreal, Quebec, Canada H3G 1A6
    J Clin Endocrinol Metab 97:E1550-6. 2012
    ..Determining PEDF serum levels might facilitate the diagnosis of OI type VI...
  7. ncbi request reprint Muscle force and power in obese and overweight children
    R Rauch
    University of Western Ontario, Department of Paediatrics, London, Ontario, Canada
    J Musculoskelet Neuronal Interact 12:80-3. 2012
    ..In conclusion, obese children and adolescents have increased muscle force and power. This partly compensates for the effect of high body weight on muscle performance...
  8. doi request reprint Serum 24,25-dihydroxyvitamin D concentrations in osteogenesis imperfecta: relationship to bone parameters
    Thomas Edouard
    Genetics Unit, Shriners Hospital for Children, 1529 Cedar Avenue, Montreal, Quebec, Canada H3G 1A6
    J Clin Endocrinol Metab 97:1243-9. 2012
    ..Several studies suggest that 24,25-dihydroxyvitamin D [24,25(OH)₂D] may have an effect on bone mass and metabolism...
  9. ncbi request reprint The dynamics of bone structure development during pubertal growth
    F Rauch
    Shriners Hospital for Children, Montreal, Quebec, Canada
    J Musculoskelet Neuronal Interact 12:1-6. 2012
    ..It remains largely unexplored how local and systemic signals are integrated to achieve site-specific changes in bone structure...
  10. ncbi request reprint Bone mass, size, and density in children and adolescents with osteogenesis imperfecta: effect of intravenous pamidronate therapy
    Frank Rauch
    Genetics Unit, Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada
    J Bone Miner Res 18:610-4. 2003
    ..Patients with larger deficits in bone mass at baseline have a more marked bone mass gain during therapy...
  11. doi request reprint Vibration therapy
    Frank Rauch
    Shriners Hospital for Children, Montreal, QC, Canada
    Dev Med Child Neurol 51:166-8. 2009
    ..In a small pilot trial in children we noted improvements in standing function, lumbar spine bone mineral density, tibial bone mass, and calf muscle cross-sectional area...
  12. doi request reprint Relationship between genotype and skeletal phenotype in children and adolescents with osteogenesis imperfecta
    Frank Rauch
    Genetics Unit, Shriners Hospital for Children, Montreal, Quebec, Canada
    J Bone Miner Res 25:1367-74. 2010
    ..Thus patients with haploinsufficiency mutations had a milder skeletal phenotype than patients with mutations affecting glycine residues, but there was no clear genotype-phenotype correlation among patients with helical glycine mutations...
  13. doi request reprint Risedronate in the treatment of mild pediatric osteogenesis imperfecta: a randomized placebo-controlled study
    Frank Rauch
    Genetics Unit, Shriners Hospital for Children, Quebec, Canada
    J Bone Miner Res 24:1282-9. 2009
    ..Future studies should investigate whether oral risedronate is effective in reducing fracture rates in children and adolescents with mild OI type I...
  14. doi request reprint Bone biopsy: indications and methods
    Frank Rauch
    Genetics Unit, Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada
    Endocr Dev 16:49-57. 2009
    ..Quantitative histomorphometric analysis of transiliac bone biopsy samples is especially valuable in clinical studies, as this method provides safety and efficacy data that can not be obtained in any other way...
  15. ncbi request reprint The 'muscle-bone unit' during the pubertal growth spurt
    Frank Rauch
    Genetics Unit, Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada H3G 1A6
    Bone 34:771-5. 2004
    ..These results are compatible with the view that bone development is driven by muscle development, although the data do not exclude the hypothesis that the two processes are independently determined by genetic mechanisms...
  16. ncbi request reprint Peripheral quantitative computed tomography of the proximal radius in young subjects--new reference data and interpretation of results
    F Rauch
    Genetics Unit, Shriners Hospital for Children, Montreal, Canada
    J Musculoskelet Neuronal Interact 8:217-26. 2008
    ..These data should facilitate the clinical use of peripheral quantitative computed tomography in young subjects...
  17. ncbi request reprint Sclerotic metaphyseal lines in a child treated with pamidronate: histomorphometric analysis
    Frank Rauch
    Genetics Unit, Shriners Hospital for Children, McGill University, Montreal, Quebec, Canada
    J Bone Miner Res 19:1191-3. 2004
  18. ncbi request reprint Pamidronate in children with osteogenesis imperfecta: histomorphometric effects of long-term therapy
    Frank Rauch
    Genetics Unit, Shriners Hospital for Children, 1529 Cedar Avenue, Montreal, Quebec, Canada H3G 1A6
    J Clin Endocrinol Metab 91:511-6. 2006
    ..Intravenous pamidronate treatment is beneficial to children and adolescents with osteogenesis imperfecta (OI), but the effects of prolonged therapy are not well characterized...
  19. ncbi request reprint Bone growth in length and width: the Yin and Yang of bone stability
    F Rauch
    Genetics Unit, Shriners Hospital for Children, Montreal, Canada
    J Musculoskelet Neuronal Interact 5:194-201. 2005
    ..Future research will have to address the question how periosteal bone cells manage to integrate mechanical, hormonal and other input to shape bones that are as strong as they need to be...
  20. ncbi request reprint High and low density in the same bone: a study on children and adolescents with mild osteogenesis imperfecta
    Frank Rauch
    Genetics Unit, Shriners Hospital for Children, 1529 Cedar Avenue, Montreal, Canada QC H3G 1A6
    Bone 37:634-41. 2005
    ....
  21. ncbi request reprint Material matters: a mechanostat-based perspective on bone development in osteogenesis imperfecta and hypophosphatemic rickets
    F Rauch
    Genetics Unit, Shriners Hospital for Children, Montreal, Canada
    J Musculoskelet Neuronal Interact 6:142-6. 2006
    ..In analogy to the above model for OI, mechanical loads should be overestimated, resulting in increased densitometric parameters of bone strength. Indeed, lumbar spine areal bone mineral density is usually elevated in such patients...
  22. ncbi request reprint Peripheral quantitative computed tomography of the distal radius in young subjects - new reference data and interpretation of results
    F Rauch
    Genetics Unit, Shriners Hospital for Children, Montreal, Canada
    J Musculoskelet Neuronal Interact 5:119-26. 2005
    ..These data should facilitate the clinical use of peripheral quantitative computed tomography in young subjects...
  23. ncbi request reprint Intracortical remodeling during human bone development--a histomorphometric study
    Frank Rauch
    Genetics Unit, Shriners Hospital for Children, 1529 Cedar Avenue, Montreal, Quebec, Canada H3G 1A6
    Bone 40:274-80. 2007
    ..Remodeling during development is thus an age-dependent process that varies with location even within the same bone...
  24. ncbi request reprint Effect of a single botulinum toxin injection on bone development in growing rabbits
    F Rauch
    Genetics Unit, Shriners Hospital for Children, Montreal, Qc H3G 1A6, Canada
    J Musculoskelet Neuronal Interact 6:264-8. 2006
    ..These preliminary data suggest that intramuscular BTX-A injections can have a deleterious effect on the development of bones that are loaded by the injected muscles...
  25. ncbi request reprint Long-bone changes after pamidronate discontinuation in children and adolescents with osteogenesis imperfecta
    Frank Rauch
    Genetics Unit, Shriners Hospital for Children and McGill University, 1529 Cedar Avenue, Montreal, Quebec, Canada H3G 1A6
    Bone 40:821-7. 2007
    ..It is possible that this produces zones of localized bone fragility after pamidronate treatment is stopped in growing children...
  26. ncbi request reprint Bone accrual in children: adding substance to surfaces
    Frank Rauch
    Genetics Unit, Shriners Hospital for Children, 1529 Cedar Ave, Montreal, Quebec, Canada H3G 1A6
    Pediatrics 119:S137-40. 2007
    ..In the past, research has focused on bone remodeling on trabecular surfaces. However, the key to an improved understanding of bone mass and strength development in children will lie with studies on bone modeling on periosteal surfaces...
  27. ncbi request reprint Pamidronate in children and adolescents with osteogenesis imperfecta: effect of treatment discontinuation
    Frank Rauch
    Genetics Unit, Shriners Hospital for Children, 1529 Cedar Avenue, Montreal, Quebec, Canada H3G 1A6
    J Clin Endocrinol Metab 91:1268-74. 2006
    ..Cyclical iv pamidronate is a widely used symptomatic therapy of osteogenesis imperfecta (OI). What happens after treatment discontinuation is unknown...
  28. doi request reprint Fracture prediction and the definition of osteoporosis in children and adolescents: the ISCD 2007 Pediatric Official Positions
    Frank Rauch
    Shriners Hospital for Children, Montreal, Canada
    J Clin Densitom 11:22-8. 2008
    ..The ISCD Official Positions with respect to the above issues, as well as the rationale and evidence used to derive these positions, are presented here...
  29. ncbi request reprint Osteogenesis imperfecta types I, III, and IV: effect of pamidronate therapy on bone and mineral metabolism
    Frank Rauch
    Genetics Unit, Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada H3G 1A6
    J Clin Endocrinol Metab 88:986-92. 2003
    ..In long-term therapy, bone turnover is suppressed to levels lower than those in healthy children. The consequences of chronically low bone turnover in children with OI are unknown at present...
  30. pmc Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I
    Frank Rauch
    Genetics Unit, Shriners Hospital for Children, Montreal, QC, Canada
    Eur J Hum Genet 18:642-7. 2010
    ..These data should be useful to predict disease phenotype in newly diagnosed OI patients...
  31. ncbi request reprint Serum leptin is suppressed by growth hormone therapy in growth hormone-deficient children
    F Rauch
    Children s Hospital of University of Cologne, Germany
    Horm Res 50:18-21. 1998
    ..In conclusion, this preliminary study demonstrates that serum leptin decreases during GH treatment in children with GH deficiency...
  32. ncbi request reprint Analysis of cancellous bone turnover by multiple slice analysis at distal radius: a study using peripheral quantitative computed tomography
    F Rauch
    Children s Hospital, University of Cologne, Germany
    J Clin Densitom 4:257-62. 2001
    ..In conclusion, multiple slice analysis may provide information on the dynamic turnover of metaphyseal trabeculae during growth...
  33. ncbi request reprint Collagen markers deoxypyridinoline and hydroxylysine glycosides: pediatric reference data and use for growth prediction in growth hormone-deficient children
    Frank Rauch
    Children s Hospital, University of Cologne, Josef Stelzmann Strasse 9, 50924 Cologne, Germany
    Clin Chem 48:315-22. 2002
    ..The aim of this study was to assess the relationship of the urinary collagen markers deoxypyridinoline (DPD) and hydroxylysine (Hyl) and its glycosides [galactosyl-Hyl (Gal-Hyl) and glucosyl-Gal-Hyl] with growth...
  34. pmc Skeletal development in premature infants: a review of bone physiology beyond nutritional aspects
    F Rauch
    Children s Hospital, University of Cologne, Cologne, Germany
    Arch Dis Child Fetal Neonatal Ed 86:F82-5. 2002
    ..However, from a functional perspective, bones should not be as heavy as possible, but rather as stable as necessary. It is therefore important to create conditions that stimulate bones to become more stable...
  35. ncbi request reprint Muscle analysis by measurement of maximal isometric grip force: new reference data and clinical applications in pediatrics
    Frank Rauch
    Children s Hospital, University of Cologne, Cologne, Germany
    Pediatr Res 51:505-10. 2002
    ..4 +/- 1.0 and 0.4 +/- 0.8, respectively). In conclusion, MIGF determination provides information on an important aspect of physical development. Height should be taken into account to avoid misinterpretation...
  36. ncbi request reprint The bone formation defect in idiopathic juvenile osteoporosis is surface-specific
    F Rauch
    Genetics Unit, Shriners Hospital, McGill University, Montreal, Quebec, Canada
    Bone 31:85-9. 2002
    ..Thus, the process causing IJO appears to mainly affect bone surfaces that are in contact with the bone marrow cavity...
  37. ncbi request reprint Age at menarche and cortical bone geometry in premenopausal women
    F Rauch
    Children s Hospital, University of Cologne, Germany
    Bone 25:69-73. 1999
    ..04). These data suggest that the bone marrow cavity of the distal radius may be slightly larger when puberty occurs later. Whether this marginal effect influences fracture risk in later life appears questionable...
  38. ncbi request reprint Reporting whole-body vibration intervention studies: recommendations of the International Society of Musculoskeletal and Neuronal Interactions
    F Rauch
    Shriners Hospital for Children and Research Center, Sainte Justine University Hospital Center, Montreal, Canada
    J Musculoskelet Neuronal Interact 10:193-8. 2010
    ..The recommendations are presented here...
  39. pmc The effects of intravenous pamidronate on the bone tissue of children and adolescents with osteogenesis imperfecta
    Frank Rauch
    Genetics Unit, Shriners Hospital for Children, and McGill University, Montreal, Quebec, Canada
    J Clin Invest 110:1293-9. 2002
    ..However, osteoclasts and osteoblasts are active on different surfaces (and are thus uncoupled) during modeling of cortical bone. Therefore resorption is selectively targeted, and continuing bone formation can increase cortical width...
  40. ncbi request reprint A new and accurate prediction model for growth response to growth hormone treatment in children with growth hormone deficiency
    E Schönau
    Children s Hospital, University of Cologne, Joseph Stelzman Strasse 9, 50924 Cologne, Germany
    Eur J Endocrinol 144:13-20. 2001
    ..To identify parameters which predict individual growth response to recombinant human GH (rhGH) therapy and to combine these parameters in a prediction model...
  41. ncbi request reprint Analysis of the musculoskeletal system in children and adolescents receiving anticonvulsant monotherapy with valproic acid or carbamazepine
    G Rieger-Wettengl
    Children s Hospital, University of Cologne, Cologne, Germany
    Pediatrics 108:E107. 2001
    ..To examine bone development in children and adolescents who have uncomplicated idiopathic epilepsy and had received monotherapy with carbamazepine or valproic acid for at least 1 year...
  42. ncbi request reprint Modeling of cross-sectional bone size, mass and geometry at the proximal radius: a study of normal bone development using peripheral quantitative computed tomography
    C M Neu
    Children's Hospital, University of Cologne, Germany
    Osteoporos Int 12:538-47. 2001
    ..Volumetric BMD is higher in women, partly because the size of the marrow cavity does not increase in girls as it does in boys...
  43. ncbi request reprint The development of bone strength at the proximal radius during childhood and adolescence
    E Schoenau
    Children's Hospital, University of Cologne, D-50924 Cologne, Germany
    J Clin Endocrinol Metab 86:613-8. 2001
    ..The purpose of the mechanically inefficient endocortical apposition in female puberty might be to create a reservoir of calcium for future pregnancy and lactation...
  44. ncbi request reprint Normative data for iliac bone histomorphometry in growing children
    F H Glorieux
    Department of Surgery, McGill University, Montreal, Quebec, Canada
    Bone 26:103-9. 2000
    ..The highest variability was found for cellular parameters. The availability of reference material will greatly facilitate the use of histomorphometry in pediatrics...
  45. ncbi request reprint Type V osteogenesis imperfecta: a new form of brittle bone disease
    F H Glorieux
    Genetics Unit, Shriners Hospital, Montreal, Quebec, Canada
    J Bone Miner Res 15:1650-8. 2000
    ..In conclusion, OI type V is a new form of autosomal dominant OI, which does not appear to be associated with collagen type I mutations. The genetic defect underlying this disease remains to be elucidated...
  46. ncbi request reprint Effect of pamidronate treatment in children with polyostotic fibrous dysplasia of bone
    Horacio Plotkin
    Genetics Unit, Shriners Hospital for Children, Quebec, Canada H3G 1A6
    J Clin Endocrinol Metab 88:4569-75. 2003
    ..In conclusion, pamidronate therapy appears to be safe in children and adolescents with polyostotic FD. However, we found no clear evidence that pamidronate has an effect on dysplastic lesions in such patients...
  47. ncbi request reprint Vibration treatment in cerebral palsy: A randomized controlled pilot study
    J Ruck
    Shriners Hospital for Children, Montreal, QC, Canada
    J Musculoskelet Neuronal Interact 10:77-83. 2010
    ..In conclusion, the WBV protocol used in this study appears to be safe in children with cerebral palsy and may improve mobility function but we did not detect a positive treatment effect on bone...
  48. ncbi request reprint Influence of puberty on muscle development at the forearm
    C M Neu
    Children s Hospital, University of Cologne, 50924 Cologne, Germany
    Am J Physiol Endocrinol Metab 283:E103-7. 2002
    ..However, the increase in specific grip force is similar in both genders and thus appears to be independent of sex hormones...
  49. doi request reprint Iliac bone histomorphometry in children with newly diagnosed inflammatory bowel disease
    L M Ward
    Department of Pediatrics, Children s Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada
    Osteoporos Int 21:331-7. 2010
    ..It is possible that low mechanical stimulation due to inadequate muscle mass contributes to the bone deficit...
  50. ncbi request reprint Gender-specific pubertal changes in volumetric cortical bone mineral density at the proximal radius
    E Schoenau
    Children s Hospital, University of Cologne, Cologne, Germany
    Bone 31:110-3. 2002
    ..Our results therefore suggest that intracortical remodeling is lower in postpubertal females than in males...
  51. ncbi request reprint Delayed osteotomy but not fracture healing in pediatric osteogenesis imperfecta patients receiving pamidronate
    Craig Fj Munns
    Genetics Unit, Shriners Hospital for Children, McGill University, Montreal, Quebec, Canada
    J Bone Miner Res 19:1779-86. 2004
    ..Pamidronate treatment was associated with delayed healing after osteotomy, but not after fracture. The data suggest that both pamidronate and mechanical factors influence bone healing in this cohort...
  52. ncbi request reprint Changes in bone density during childhood and adolescence: an approach based on bone's biological organization
    F Rauch
    Children's Hospital, University of Cologne, Germany
    J Bone Miner Res 16:597-604. 2001
    ..DXA allows the estimation of BMD(total) at skeletal sites, which have an approximately circular cross-section. The system presented here may help to interpret densitometric results in growing subjects on a physiological basis...
  53. ncbi request reprint Musculoskeletal analyses of the forearm in young women with Turner syndrome: a study using peripheral quantitative computed tomography
    S Bechtold
    Children s Hospital, Dr v Haunersches Kinderspital, Ludwig Maximilians University of Munich, 80337 Munich, Germany
    J Clin Endocrinol Metab 86:5819-23. 2001
    ..Bone strength may not be adequate for the relatively high body weight of TS patients (+0.8 SD score), which could contribute to an increased propensity for fractures...
  54. doi request reprint Alendronate for the treatment of pediatric osteogenesis imperfecta: a randomized placebo-controlled study
    L M Ward
    Genetics Unit, Shriners Hospital for Children, 1529 Cedar Avenue, Montreal, Quebec, Canada
    J Clin Endocrinol Metab 96:355-64. 2011
    ..Information on the use of oral bisphosphonate agents to treat pediatric osteogenesis imperfecta (OI) is limited...
  55. ncbi request reprint Effect of gene dose and parental origin on bone histomorphometry in X-linked Hyp mice
    Z Q Qiu
    Department of Biology, McGill University, Montreal, Quebec H3A 1B1, Canada
    Bone 34:134-9. 2004
    ....
  56. ncbi request reprint Vertebral morphometry in children and adolescents with osteogenesis imperfecta: effect of intravenous pamidronate treatment
    Christof Land
    Genetics Unit, Shriners Hospital for Children, 1529 Cedar Avenue, Montreal, Quebec, Canada H3G 1A6
    Bone 39:901-6. 2006
    ..In moderate to severe forms of OI, pamidronate should be started as early as possible to treat or to prevent vertebral deformations...
  57. doi request reprint Short- and long-term outcome of patients with pseudo-vitamin D deficiency rickets treated with calcitriol
    T Edouard
    Genetics Unit, Shriners Hospital for Children, Montreal, Quebec, Canada
    J Clin Endocrinol Metab 96:82-9. 2011
    ..The long-term (>1 yr) effects of calcitriol replacement treatment have not been reported...
  58. ncbi request reprint The developing bone: slave or master of its cells and molecules?
    F Rauch
    Children s Hospital, University of Cologne, 50924 Cologne, Germany
    Pediatr Res 50:309-14. 2001
    ..We propose that future studies on bone development should address topics that can be derived from the mechanostat model...
  59. ncbi request reprint Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease
    L M Ward
    Genetics Unit, Shriners Hospital for Children, Montreal, Quebec, Canada
    Bone 31:12-8. 2002
    ..The disease has subsequently been localized to chromosome 3p22-24.1, which is outside the loci for type I collagen genes. The underlying genetic basis for the disease remains to be determined...
  60. ncbi request reprint Osteogenesis imperfecta type VII maps to the short arm of chromosome 3
    M Labuda
    Genetics Unit, Shriners Hospital for Children, Montreal, Quebec, Canada
    Bone 31:19-25. 2002
    ..This study excludes type I collagen mutations in the pathogenesis of the disease and assigns this form of OI to a locus other than the ones containing the type I collagen genes...
  61. doi request reprint Large osteoclasts in pediatric osteogenesis imperfecta patients receiving intravenous pamidronate
    Moira S Cheung
    Genetics Unit, Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada
    J Bone Miner Res 24:669-74. 2009
    ..It seems more likely that the observed abnormalities in osteoclast morphology are part of the mechanism of action of this drug...
  62. ncbi request reprint Height and weight development during four years of therapy with cyclical intravenous pamidronate in children and adolescents with osteogenesis imperfecta types I, III, and IV
    Leonid Zeitlin
    Genetics Unit, Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada
    Pediatrics 111:1030-6. 2003
    ..In this study we analyzed growth during cyclical intravenous pamidronate treatment in children and adolescents (age.04-15.6 years at baseline) with moderate to severe forms of OI types I, III, and IV...
  63. ncbi request reprint Osteogenesis imperfecta type VI in childhood and adolescence: effects of cyclical intravenous pamidronate treatment
    Christof Land
    Genetics Unit, Shriners Hospital for Children, Montreal, Quebec, Canada
    Bone 40:638-44. 2007
    ..However, the gains in mobility scores and reductions in fracture incidence during pamidronate treatment are less than in other OI types...
  64. ncbi request reprint The effect of cyclical intravenous pamidronate in children and adolescents with osteogenesis imperfecta type V
    Leonid Zeitlin
    Genetics Unit, Shriners Hospital for Children and McGill University, 1529 Cedar Avenue, Montreal, Quebec, Canada H3G 1A6
    Bone 38:13-20. 2006
    ..Ambulation status improved in four patients and remained unchanged in the others. In conclusion, the intravenous pamidronate therapy has a similar effect in OI type V as it has in the other OI types...
  65. ncbi request reprint Resolution of severe, adolescent-onset hypophosphatemic rickets following resection of an FGF-23-producing tumour of the distal ulna
    L M Ward
    Department of Pediatrics, Children s Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada
    Bone 34:905-11. 2004
    ....
  66. ncbi request reprint The development of metaphyseal cortex--implications for distal radius fractures during growth
    F Rauch
    Childrens' Hospital, University of Cologne, Germany
    J Bone Miner Res 16:1547-55. 2001
    ..The endocortical apposition rate is already very high at that site and apparently cannot be further increased to levels that would be necessary to keep bone strength adapted to the mechanical requirements...
  67. ncbi request reprint Effects of intravenous pamidronate treatment in infants with osteogenesis imperfecta: clinical and histomorphometric outcome
    Craig F J Munns
    Genetics Unit, Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada
    J Bone Miner Res 20:1235-43. 2005
    ..Pamidronate was associated with improved vertebral shape and mass, higher cortical width, increased cancellous bone volume, and suppressed bone turnover...
  68. ncbi request reprint Early injection of OP-1 during distraction osteogenesis accelerates new bone formation in rabbits
    Manuela Mandu-Hrit
    Shriners Hospital, Montreal Children Hospital, Division of Orthopaedics, McGill University, Montreal, Que, Canada
    Growth Factors 24:172-83. 2006
    ..Results suggested that applying OP-1 early during distraction can accelerate bone formation by the activation of numerous pathways. This study provides further insights on strategies to improve bone regeneration rate in DO...
  69. ncbi request reprint Agreement between vertical ground reaction force and ground reaction force vector in five common clinical tests
    L N Veilleux
    Shriners Hospital for Children and Department of Pediatrics, McGill University, Montreal, Quebec, Canada
    J Musculoskelet Neuronal Interact 12:219-23. 2012
    ..4% (heel-rise test) of the averaged peak force measurements. Therefore measuring only the vertical component of ground reaction force in healthy participants is appropriate for the five tests used in the present study...
  70. ncbi request reprint Reproducibility of jumping mechanography in healthy children and adults
    L N Veilleux
    Shriners Hospital for Children, and Research Center, Sainte Justine University Hospital Center, Montreal, Quebec, Canada
    J Musculoskelet Neuronal Interact 10:256-66. 2010
    ..To describe mechanographic tests that can be performed by patients with a range of functional abilities and to assess the reproducibility of test results in healthy adults and children...
  71. ncbi request reprint Severe osteogenesis imperfecta caused by a small in-frame deletion in CRTAP
    I M Ben Amor
    Genetics Unit, Shriners Hospital for Children and McGill University, Montreal, Canada
    Am J Med Genet A 155:2865-70. 2011
    ..We are unaware of prior reports of this finding. We suggest that this deletion affects crucial amino acids that are important for the interaction and/or stabilization of CRTAP and P3H1...
  72. ncbi request reprint Intravenous pamidronate in osteogenesis imperfecta type VII
    Moira S Cheung
    Genetics Unit, Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada
    Calcif Tissue Int 84:203-9. 2009
    ..There were no significant side effects noted during the time of follow-up. Thus, intravenous treatment with pamidronate seems to be safe and of some benefit in patients with OI type VII...
  73. ncbi request reprint Cyclical intravenous pamidronate treatment affects metaphyseal modeling in growing patients with osteogenesis imperfecta
    Christof Land
    Genetics Unit, Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada
    J Bone Miner Res 21:374-9. 2006
    ..This analysis of 50 growing patients with osteogenesis imperfecta revealed that 2-4 years of pamidronate treatment lead to abnormalities in the shape of the distal femoral metaphyses...
  74. ncbi request reprint Radial head dislocation and subluxation in osteogenesis imperfecta
    Alice Marcdargent Fassier
    Pediatric Orthopaedics Clinical Fell, McGill University, 1529 Cedar Avenue, Montreal, QC H3G 1AG, Canada
    J Bone Joint Surg Am 89:2694-704. 2007
    ..The aims of this retrospective work were to study the prevalence of radial head malalignment (dislocation or subluxation) in different types of osteogenesis imperfecta and to identify factors linked to it...
  75. ncbi request reprint Expression of bone morphogenetic proteins during mandibular distraction osteogenesis
    Paolo Campisi
    Department of Otolaryngology and the Division of Plastic and Reconstructive Surgery, McGill University Health Center, McGill University, Montreal, Quebec, Canada
    Plast Reconstr Surg 111:201-8; discussion 209-10. 2003
    ..These data indicate that BMPs participate in the translation of mechanical stimuli into a biological response during mandibular distraction osteogenesis...
  76. ncbi request reprint Effects of osteogenic protein-1 on distraction osteogenesis in rabbits
    Reggie C Hamdy
    Shriners Hospital for Children, Canadian Unit, Division of Orthopaedics, McGill University, 1529 Cedar Avenue, Montreal, Quebec, Canada H3G 1A6
    Bone 33:248-55. 2003
    ..Thus, it appears that the lack of receptor protein in the target tissue impairs the effect of OP-1 given at the end of the distraction period. Possibly, OP-1 could be more useful when applied early in the distraction phase...
  77. doi request reprint Wormian bones in osteogenesis imperfecta: Correlation to clinical findings and genotype
    Oliver Semler
    Genetics Unit, Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada
    Am J Med Genet A 152:1681-7. 2010
    ..Thus, it appears that SNWB occur more frequently in more severely affected OI patients and seem to develop mostly in utero...
  78. ncbi request reprint Medical therapy of children with fibrous dysplasia
    Francis H Glorieux
    Genetics Unit, Shriners Hospital for Children, McGill University, Montreal, Canada
    J Bone Miner Res 21:P110-3. 2006
  79. ncbi request reprint Single-dose pharmacokinetics and tolerability of alendronate 35- and 70-milligram tablets in children and adolescents with osteogenesis imperfecta type I
    L M Ward
    Genetics Unit, Shriners Hospital for Children, and McGill University, 1529 Cedar Avenue, Montreal, Quebec, Canada H3G 1A6
    J Clin Endocrinol Metab 90:4051-6. 2005
    ..Alendronate (ALN) is a bisphosphonate compound that can be administered orally and has potential use in pediatric osteoporotic conditions...
  80. ncbi request reprint Gait analysis using a force-measuring gangway: intrasession repeatability in healthy adults
    L N Veilleux
    Centre de Réadaptation Marie Enfant, Research Center, Sainte Justine University Hospital, Montreal, Quebec, Canada
    J Musculoskelet Neuronal Interact 11:27-33. 2011
    ..The goal of the present study was to determine the repeatability of gait parameters measured by a force plate gait analysis system (Leonardo Mechanograph® GW)...
  81. ncbi request reprint Osteogenesis imperfecta--clinical and molecular diversity
    P J Roughley
    Genetics Unit, Shriners Hospital for Children, Montreal, Canada
    Eur Cell Mater 5:41-7; discussion 47. 2003
    ..Treatment of osteogenesis imperfecta by bisphosphonate therapy can improve bone mass in all types of the disorder, and while not being a cure for the disorder does improve the quality of life of the patient...
  82. ncbi request reprint The muscle-bone relationship: methods and management - perspectives in glycogen storage disease
    Eckhard Schönau
    Children s Hospital, University of Cologne, Josef Stelzmann Strasse 9, 50924 Cologne, Germany
    Eur J Pediatr 161:S50-2. 2002
    ..CONCLUSION: since the main forces applied to bones are due to muscle action, the strength of a bone should be related to the force of the muscles attached to it...
  83. ncbi request reprint Fibrous dysplasia
    Eckhard Schoenau
    Children s Hospital, University of Cologne, Germany
    Horm Res 57:79-82. 2002
    ..Fibrous dysplasia (FD) of bone is a non-inheritable congenital disorder affecting both genders. It is characterized by expanding fibrous lesions, which contain bone-forming mesenchymal cells...
  84. ncbi request reprint Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2
    Eissa Faqeih
    Genetics Unit, Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada
    Am J Med Genet A 149:461-5. 2009
    ..These observations suggest that mutations in this region of the collagen type I alpha 2 chain carry a high risk of abnormal limb development and intracranial bleeding...
  85. ncbi request reprint Bone mineral content per muscle cross-sectional area as an index of the functional muscle-bone unit
    Eckhard Schoenau
    Children s Hospital, University of Cologne, Germany
    J Bone Miner Res 17:1095-101. 2002
    ..This functional approach to pediatric bone densitometric data should be adaptable to a variety of densitometric techniques...
  86. ncbi request reprint Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect
    Francis H Glorieux
    Shriners Hospital for Children, and Department of Surgery, McGill University, Montreal, Quebec, Canada
    J Bone Miner Res 17:30-8. 2002
    ..The underlying genetic defect remains to be elucidated...
  87. ncbi request reprint Bone mineralization in polyostotic fibrous dysplasia: histomorphometric analysis
    Leonieke Terpstra
    Genetics Unit, Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada
    J Bone Miner Res 17:1949-53. 2002
    ..It is debatable whether the mild systemic mineralization defect warrants treatment with oral phosphorus supplementation if signs of rickets are absent...
  88. ncbi request reprint Low bone mass in glycogen storage disease type 1 is associated with reduced muscle force and poor metabolic control
    Bernd Schwahn
    Children s Hospital, Heinrich Heine University, Dusseldorf, Germany, and Children s Hospital, University of Cologne, Germany
    J Pediatr 141:350-6. 2002
    ..Study design: Distal radius bone mass and density were evaluated in 19 patients with GSD 1 (15 GSD 1a, 4 GSD 1b) by means of peripheral quantitative computed tomography. Grip force was quantified with a dynamometer...
  89. ncbi request reprint Three children with lower limb fractures and a mineralization defect: a novel bone fragility disorder?
    Craig F J Munns
    Genetics Unit, Shriners Hospital for Children, Montreal, Quebec, Canada
    Bone 35:1023-8. 2004
    ..The pathogenetic basis for this disorder remains to be elucidated...
  90. ncbi request reprint Effect of intravenous pamidronate therapy on functional abilities and level of ambulation in children with osteogenesis imperfecta
    Christof Land
    Genetics Unit, Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada
    J Pediatr 148:456-60. 2006
    ..To evaluate the functional abilities and the level of ambulation during pamidronate therapy in children with moderate to severe osteogenesis imperfecta...
  91. ncbi request reprint Immunohistochemical localization of bone morphogenetic protein-signaling Smads during long-bone distraction osteogenesis
    Tasima Haque
    Shriners Hospital for Children, Montreal, Quebec, Canada H3G 1A6
    J Histochem Cytochem 54:407-15. 2006
    ..These results therefore suggest a role for the whole BMP signaling pathway including the Smad proteins in DO...
  92. ncbi request reprint Osteogenesis imperfecta, current and future medical treatment
    Frank Rauch
    Shriners Hospital for Children, Montreal, Quebec, Canada
    Am J Med Genet C Semin Med Genet 139:31-7. 2005
    ..Medical therapies other than bisphosphonates, such as growth hormone and parathyroid hormone, play a minor role at present. Gene-based therapy currently remains in the early stages of preclinical research...
  93. ncbi request reprint Maternal and fetal outcome after long-term pamidronate treatment before conception: a report of two cases
    Craig F J Munns
    Genetics Unit, Shriners Hospital for Children, McGill University, Montreal, Quebec, Canada
    J Bone Miner Res 19:1742-5. 2004
    ..Both the mothers and babies remain well and free of fracture 14 and 16 months postpartum...
  94. doi request reprint Postnatal vitamin D supplementation following maternal dietary vitamin D deficiency does not affect bone mass in weanling guinea pigs
    Sarah L Finch
    School of Dietetics and Human Nutrition, McGill University, Quebec, Canada
    J Nutr 140:1574-81. 2010
    ....
  95. ncbi request reprint Osteogenesis imperfecta
    Frank Rauch
    Genetics Unit, Shriners Hospital for Children and McGill University, 1529 Cedar Avenue, Montreal, Quebec, Canada H3G 1A6
    Lancet 363:1377-85. 2004
    ..Although this treatment does not constitute a cure, it is an adjunct to physiotherapy, rehabilitation, and orthopaedic care. Gene-based therapy presently remains in the early stages of preclinical research...
  96. ncbi request reprint Rapid increase in grip force after start of pamidronate therapy in children and adolescents with severe osteogenesis imperfecta
    Kathleen Montpetit
    Shriners Hospital, McGill University, Montreal, Quebec, Canada
    Pediatrics 111:e601-3. 2003
    ..To examine changes in grip force during pamidronate therapy in children and adolescents with severe osteogenesis imperfecta (OI)...
  97. ncbi request reprint High prevalence of coxa vara in patients with severe osteogenesis imperfecta
    Mehdi Aarabi
    Shriners Hospital for Children, Division of Orthopaedics, McGill University, Montreal, Quebec, Canada
    J Pediatr Orthop 26:24-8. 2006
    ..Regular clinical and radiologic follow-up is indicated in children with previous femoral rodding and in severely affected children, particularly those with OI type III...
  98. ncbi request reprint Respiratory distress with pamidronate treatment in infants with severe osteogenesis imperfecta
    Craig F Munns
    Genetics Unit, Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada
    Bone 35:231-4. 2004
    ..The etiology is unclear but may involve cytokine release and/or hemodynamic compromise from fluid administration during the first infusion cycle. Close monitoring throughout the first treatment cycle is of paramount importance...
  99. ncbi request reprint Bisphosphonate treatment in osteogenesis imperfecta: which drug, for whom, for how long?
    Frank Rauch
    Genetics Unit, Shriners Hospital for Children and McGill University, Montreal, Québecm Canada
    Ann Med 37:295-302. 2005
    ..Such patients should not be treated unless clear clinical benefit can be demonstrated in ongoing placebo-controlled trials...
  100. ncbi request reprint Treatment of children with osteogenesis imperfecta
    Frank Rauch
    Genetics Unit, Shriners Hospital for Children, 1529 Cedar Avenue, Montreal, Quebec, Canada H3G 1A6
    Curr Osteoporos Rep 4:159-64. 2006
    ..Medical therapies other than bisphosphonates play a minor role at present. Gene-based therapy currently remains in the realm of preclinical research...
  101. doi request reprint Tooth extraction socket healing in pediatric patients treated with intravenous pamidronate
    Carol Chahine
    From the Faculty of Dentistry, Division of Oral and Maxillofacial Surgery, Montreal, Quebec, Canada
    J Pediatr 153:719-20. 2008
    ..In the present study, we did not find a case of ONJ among 278 pediatric patients who had received intravenous pamidronate during childhood or adolescence...