Orthopaedic Manifestations of Neurofibromatosis Type 1

Feldman, David S.; Jordan, Charles J.; Fonseca, Lauren E.

doi:10.5435/00124635-201006000-00007

Cited by 68 publications

(82 citation statements)

References 55 publications

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“…Defects in osteoblasts have also demonstrated that dysfunctions caused by loss of NF1 in osteoblasts impair callus maturation and weaken callus mechanical properties [96]. The most affected bone is the tibial diaphysis and dysplastic lesion having the radiological appearance of an anterior bowing, or a sclerotic lesion, or a fracture [97]. The congenital pseudarthrosis of the tibia (CPT) with/without NF1 is one of the most complex and disabling pediatric skeletal diseases.…”

Section: Potential Clinical Use Of Hmscs For Bone and Cartilage Rementioning

confidence: 99%

New Insights into Osteogenic and Chondrogenic Differentiation of Human Bone Marrow Mesenchymal Stem Cells and Their Potential Clinical Applications for Bone Regeneration in Pediatric Orthopaedics

Giuliani

Lisignoli

Magnani

et al. 2013

Stem Cells International

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Human mesenchymal stem cells (hMSCs) are pluripotent adult stem cells capable of being differentiated into osteoblasts, adipocytes, and chondrocytes. The osteogenic differentiation of hMSCs is regulated either by systemic hormones or by local growth factors able to induce specific intracellular signal pathways that modify the expression and activity of several transcription factors. Runt-related transcription factor 2 (Runx2) and Wnt signaling-related molecules are the major factors critically involved in the osteogenic differentiation process by hMSCs, and SRY-related high-mobility-group (HMG) box transcription factor 9 (SOX9) is involved in the chondrogenic one. hMSCs have generated a great interest in the field of regenerative medicine, particularly in bone regeneration. In this paper, we focused our attention on the molecular mechanisms involved in osteogenic and chondrogenic differentiation of hMSC, and the potential clinical use of hMSCs in osteoarticular pediatric disease characterized by fracture nonunion and pseudarthrosis.

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Section: Potential Clinical Use Of Hmscs For Bone and Cartilage Rementioning

confidence: 99%

New Insights into Osteogenic and Chondrogenic Differentiation of Human Bone Marrow Mesenchymal Stem Cells and Their Potential Clinical Applications for Bone Regeneration in Pediatric Orthopaedics

Giuliani

Lisignoli

Magnani

et al. 2013

Stem Cells International

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“…Intraoperatively high bleeding rates may be encountered and post-operative complication rates are also higher [45]. Overall patients with Duchenne's muscular dystrophy have shortened life expectancy with 12% achieving 25 years of life [46].…”

Section: Duchenne's Muscular Dystrophymentioning

confidence: 99%

Pediatric scoliosis

Cunningham

2011

Curr Rev Musculoskelet Med

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Pediatric scoliosis is a relatively uncommon condition typically first noticed due to altered stature or by routine spine screenings by a school nurse or pediatrician. The formal diagnosis is made with spine radiographs, with coronal curvature measurement of 10° or greater. Treatment may consist of serial observation, bracing until skeletal maturity, or surgery for correction and fusion/stabilization of severe or progressive deformity. Overall success for non-operative management of scoliosis is affected by the etiology for the deformity, close follow up and monitoring for evolution of the deformity, and patient compliance with their treatment regimen. The most common surgical technique is a posterior approach spine fusion with implanted instrumentation, and patients are typically back to their activities of daily living by 6 months postoperatively. Continued intermittent monitoring of the scoliosis throughout adulthood is recommended, to detect late deformity progression, development of arthritis symptoms, or other associated issues.

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“…В 25-50 % случаев НФ 1-го типа (НФ-1, болезнь Реклингхаузена, пери-ферический НФ) проявляется кифосколиотической деформацией позвоночника [1,3,4]. Особенности данных деформаций -ранняя манифестация и быст-рое прогрессирование [5,6]. Без коррекции дефор-маций развиваются необратимые сердечно-легочные и неврологические нарушения, предотвратить которые может только своевременное хирургическое вмеша-тельство [7,8].…”

Section: Introductionunclassified