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, Lee CA, Li Z, Elsaidi GA, Ritting A, et al. Gene expression of myogenic regulatory factors, nicotinic acetylcholine receptor subunits, and GAP-43 in skeletal muscle following denervation in a rat model. J Orthop Res. 2007; 25: 1498-505. 5. Nosek MT, Martyn JA. Na+ channel and acetylcholine receptor changes in muscle at sites distant from burns do not simulate denervation. J Appl Physiol. 1997; 82: 1333-9. 6. Ibebunjo C, Martyn JA. Thermal injury induces greater resistance to d-Tubocurarine in local rather than in distant muscles in the rat. Anesth Analg. 2000; 91

The study of stages of development is important for interventional therapies, and treatment of trauma and accidents. It is also helpful in forensic identification. The best way to assess the growth and development is to assess skeletal maturity. Radiographs are effective tools for assessing bone maturity in dentistry. During growth, every bone goes through a series of ossification changes that can be seen radiologically. There are some exceptions, but the events are reproducible enough to provide a basis for comparison between different individuals [ 1 ]. Use of

Physical activity can be described as a situation in which the skeletal muscles are used for any purpose that results in an increase in energy expenditure compared with the resting state [ 1 ]. Long-term physical activity is associated with a reduction of the morbidity and mortality rates in humans [ 2 , 3 ]. Numerous meta-analyses have shown that regular physical activity has a significant benefit by reducing the risk of mortality from all causes and from cardiovascular causes by 33% and 35% respectively in people without cardiovascular disease [ 4 ]; people

characterized by short arms and legs, a small chest with short ribs, lung hypoplasia, a prominent forehead, a small chin, and an enlarged abdomen that may be accompanied by poly-hydramnios and hydrops. Typical radiological findings of ACG2 include short long bones, short ribs without fractures, decreased ossification of the pelvis and spine, and normal mineralization in the iliac and calvarial bones [ 3 ]. The COL2A1 gene encodes the cartilage-specific collagen, and mutations in this gene can cause ACG2 and various skeletal dysplasias. Achondrogenesis type 2 is the most

several skeletal syndromes: brachyolmia, spondylometaphyseal dysplasia Kozlowski type, metatropic dysplasia, parastremmatic dysplasia, familial digital arthropathy and spondyloepimetaphyseal dysplasia Maroteaux type. On the other hand, heterozygous TRPV4 missense mutations cause peripheral neuropathy, hereditary motor and sensory neuropathy type IIC, congenital distal spinal muscular atrophy, and scapuloperoneal spinal muscular atrophy [ 4 ]. A concominant existence of bone dysplasia and neuropathy was also observed: fetal akinesia, understood as a form of neuropathy

Introduction Barth syndrome (BTHS, OMIM 302060) is a rare X-linked disease characterized by dilated cardiomyopathy, proximal skeletal myopathy and cyclic neutropenia and was first described in 1983 by Barth et al . [ 1 ]. The incidence of BTHS is about 1 in 300,000-400,000 births [ 2 ]. It is also presented with organic aciduria, particularly excess of 3-methylglutaconic acid [ 1 , 3 ]. The excretion of 3-methylglutaconic acid in urine can be highly variable and is often intermittent. At the moment, 3-methylglutaconic acid is a biochemical marker for

Introduction Otopalatodigital spectrum disorder (OPDSD) is a rare group of recognizable X-linked phenotypes caused by mutations in the filamin A ( FLNA ) gene [ 1 ]. It comprises four entities with overlapping clinical characteristics [otopalatodigital syndrome type I (OPD type I), OMIM 311300, otopalatodigital syndrome type II (OPD type II), OMIM 304120; frontomethaphyseal dysplasia (FMD), OMIM 302620 and Melnick-Needles syndrome (MNS), OMIM 309350] [ 1 , 2 ]. The hallmark of these disorders are skeletal dysplasia of variable severity affecting both axial and

enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles. Proc Natl Acad Sci USA 2005;102:15545-50. Turner RT, Riggs BL, and Spelsberg TC. Skeletal effects of estrogen. Endocrine Rev 1994;15:275-300. Miyaura C, Onoe Y, Inada M, Maki K, Ikuta K, Ito M, Suda T. Increased B-lymphopoiesis by interleukin 7 induces bone loss in mice with intact ovarian function: similarity to estrogen deficiency. Proc Natl Acad Sci USA 1997;94:9360-5. Hofmeister R, Khaled AR, Benbernou N, Rajnavolgyi E, Muegge K, Durum SK. Interleukin-7

References Wowern N. Microradiographic and histomorphometric indices of mandibles for diagnosis of soteopenia. Scand J Dent Res 1982;90:47-63. Gordan GS, Genant HK. The aging skeleton. Clin Geriatr Med 1985;1:95-118. Kribbs PJ, Chesnut III CH, Ott SM, Kilcoyne RF. Relationships between mandibular and skeletal bone in an osteoporotic population. J Prosthet Dent 1989;62:703-7. Krolner B, Toft B. Vertebral bone loss: an ungeeded side effect of therapeutic bed rest. Clin Sci 1983;64:537-40. Lane NE. Epidemiology, etiology, and diagnosis of osteoporosis. Am J

prenatally and were suitable for comparison of tetrasomy 9p and trisomy 9p phenotype [ 53 , 54 , 55 , 56 ]. Altogether, most of the reported cases of tetrasomy 9p were associated with severe congenital abnormalities. The most common prenatally detected features of tetrasomy 9p were central nervous system (CNS) abnormalities (13/22) (our case [ 3 , 5 , 7 , 15 , 32 , 33 , 37 , 38 , 39 , 40 , 45 , 47 ]), limb/ skeletal malformations (11/22) (our case [ 1 , 5 , 7 , 32 , 38 , 39 , 40 , 45 , 47 , 51 )], intrauterine growth retardation (IUGR) (10/22) [ 1 , 3 , 4 , 5 , 7