Science.gov

Sample records for epiphyses

  1. Longitudinal epiphyseal bracket.

    PubMed

    Nguyen, Jimmy Q; Gatewood, Jason B; Beall, Douglas; Herndon, William; Puffinberger, William R; Ly, Justin; Fish, Jon R

    2007-10-01

    A longitudinal epiphyseal bracket (LEB) is a defect of the tubular bones and has been primarily described in the hands and feet, especially the proximal phalanges, metacarpals, and metatarsals. The LEB results from a defective C-shaped secondary ossification center that brackets the diaphysis and metaphysis, causing restricted longitudinal growth in these bones with resultant shortening and angular deformities. Deformities associated with metatarsal epiphyseal bracket include a short, broad metatarsal and medial deviation of the metatarsophalangeal joint (hallux varus deformity). Excision of the cartilaginous LEB has been proposed to prevent future soft tissue contractures and osseous deformities. The LEB has been associated with numerous syndromes including Rubinstein-Taybi syndrome, Cenani-Lenz syndactyly, isolated oligosyndactyly, and Nievergelt syndrome. We describe a two-month-old patient in whom plain film and MR imaging demonstrated bilateral bracketed first metatarsals with associated hallux varus deformities. Bilateral bracket excision was performed with excellent clinical results. PMID:18085094

  2. Epiphyseal injuries in the growing athlete.

    PubMed Central

    Schwab, S. A.

    1977-01-01

    The epiphyses and epiphyseal plates are vital structures in the bone development of the growing athlete. The epiphyseal plate is two to five times weaker than the surrounding fibrous tissue in children and adolescents; consequently a force causing a ligamentous tear in adults is likely to cause an epiphyseal plate injury in growing children. Two types of epiphyseal injury that are common in the growing athlete are (a) separation across the epiphyseal plate, which is usually produced by a direct blow to the joint area or by a strong muscular contraction, and (b) traumatic epiphysitis, the more common of the two, which is usually caused by strong, repetitive contraction of a muscle attached to a traction epiphysis. Each epiphyseal site has specific anatomic features and the forces causing injury differ slightly at each site. An improperly treated separation of an intra-articular pressure epiphysis can have a disastrous effect on the proper functioning of the normally well-fitted articulation of bone ends in the joint. Consequently, proper diagnosis and treatment are essential. Traumatic epiphysitis can result in chronic inflammation or fragmentation, or both, if the condition is not arrested. Therefore the athlete must discontinue the activities that are causing the trauma until the inflammation is completely arrested. Absolute rest may even be required. PMID:902208

  3. [Transitional fractures : Epiphyseal injuries in adolescence].

    PubMed

    Schneidmueller, D; von Rüden, C; Friederichs, J; Bühren, V

    2016-06-01

    The so-called transitional fractures describe articular fractures in adolescents with partial closure of the epiphyseal growth plate. This shows a specific stereotype fracture pattern, which can be differentiated into biplane, triplane I and triplane II fractures depending on the involvement of the metaphysis and the number of fragments. The diagnostics and therapy can differ from fractures where the epiphyseal growth plate is still open. The main focus for surgical treatment is the reconstruction of the articular surface whereas relevant growth disturbances no longer need to be feared when the epiphysis has already begun to close. PMID:27240851

  4. Clinical features of multiple epiphyseal dysplasia expressed in the knee.

    PubMed

    Miura, H; Noguchi, Y; Mitsuyasu, H; Nagamine, R; Urabe, K; Matsuda, S; Iwamoto, Y

    2000-11-01

    The purpose of this study is to clarify the clinical features of the knee affected by multiple epiphyseal dysplasia. Thirty-one cases of multiple epiphyseal dysplasia were reviewed. Of the patients, 11 were male and 20 were female. The average age at onset of symptoms was 22.5 years. The average age at initial visit to the authors' hospital was 28.9 years. Radiographic findings showed epiphyseal abnormality of the knee in all but two (93%) cases. Irregularity, segmentation of the epiphysis, widening of the joint space, and genu valgum deformity were the dominant findings before epiphyseal closure. After epiphyseal closure, the most characteristic finding was a shallow femoral trochlear groove, which was observed in 56.5% of the cases. Other findings in adult patients included early onset osteoarthritic change, genu valgum, depression of the lateral tibial plateau, and multiple free bodies. However, there still is a possibility that multiple epiphyseal dysplasia exists, even if the patient lacks a shallow femoral trochlear groove. If genu valgum or varum, free bodies, and premature osteoarthritis are observed, one should evaluate other joints, keeping a diagnosis of multiple epiphyseal dysplasia in mind. Patients with knees that have a femoral trochlear groove of normal or near normal shape do exist, and premature osteoarthritic changes may develop in such patients. PMID:11064990

  5. Chronic slipping of bilateral distal humeral epiphyses in a gymnastist.

    PubMed

    Oda, Ryo; Fujiwara, Hiroyoshi; Ichimaru, Kozo; Morihara, Toru; Ikeda, Takumi; Kubo, Toshikazu

    2015-01-01

    In children, fracture-separation of the epiphyseal plate near the elbow joint is a common occurrence. However, separation of the distal humeral epiphysis is very rare, and in most cases, it is caused by high-impact trauma. In all reported cases, there has been a clear mechanism of injury. We report a case of an 11-year-old male patient who sustained separation of the distal humeral epiphyses bilaterally after 2 years of gymnastics, without a clear mechanism of injury. This patient had been using the vault since he was 9 years old, although children of that age do not normally perform on the vault. When gymnasts place their hands on the vault with their elbows flexed and subsequently extend their elbows to push off, the biomechanical load is placed equally on the right and left arms. Consequently, this type of repeated stress induces injury to the epiphyseal cartilages bilaterally, resulting in chronic progression of separation of the distal humeral epiphyses. PMID:25438108

  6. Avascular necrosis of the hip in multiple epiphyseal dysplasia

    SciTech Connect

    Mackenzie, W.G.; Bassett, G.S.; Mandell, G.A.; Scott, C.I. Jr. )

    1989-11-01

    We observed radiographic changes of avascular necrosis (AVN) of the capital femoral epiphysis in 9 hips of 11 patients with multiple epiphyseal dysplasia (MED). Plain roentgenography, bone scintigraphy, and magnetic resonance imaging (MRI) studies all revealed characteristic asymmetric changes in the presence of AVN superimposed on dysplastic femoral heads.

  7. Primary Epiphyseal Aneurysmal Bone Cyst Of Distal Ulna

    PubMed Central

    Kapila, Rajesh; Sharma, Rakesh; Sohal, Yadwinder Singh; Singh, Dhalwinder; Singh, Sukhpal

    2015-01-01

    Introduction: Aneurysmal Bone Cyst (ABC) is a benign expansile cystic blood filled reactive lesion of the bone, most common in the first 2 decades of life. Though it can involve any bone in the body but tibia, humerus, femur and posterior elements of spine are most commonly affected. They most commonly involve metaphysis or metaphysio-diaphyseal part of the bone. Primary involvement of epiphysis is rarely reported. Here we present a case of 6 year old male child with an epiphyseal ABC of distal ulna. Its diagnosis, surgical management, clinical outcome with review of literature is discussed. PMID:27299110

  8. Age estimation from stages of epiphyseal union in the presacral vertebrae.

    PubMed

    Cardoso, Hugo F V; Ríos, Luis

    2011-02-01

    The presacral vertebrae have various secondary centers of ossification, whose timing of fusion can be used for age estimation of human skeletal remains up to the middle to the latter third decade. However, detailed information about the age at which these secondary centers of ossification fuse has been lacking. In this study, the timing of epiphyseal union in presacral vertebrae was studied in a sample of modern Portuguese skeletons (57 females and 47 males) between the ages of 9 and 30, taken from the Lisbon documented skeletal collection. A detailed photographic record of these epiphyses and the age ranges for the different stages of epiphyseal union are provided. Partial union of epiphyses was observed from 11 to 27 years of age. In general, centers of ossification begin to fuse first in the cervical and lumbar vertebrae, followed by centers of ossification in the thoracic region. The first center of ossification to complete fusion is usually that of the mammillary process in lumbar vertebrae. This is usually followed by that of the transverse process, spinous transverse process, and annular ring, regardless of vertebra type. There were no statistically significant sex differences in timing of fusion, but there was a trend toward early maturation in females for some vertebra or epiphyses. Bilateral epiphyses did not show statistically significant differences in timing of fusion. This study offers information on timing of fusion of diverse epiphyseal locations useful for age estimation of complete or fragmented human skeletal remains. PMID:20872802

  9. Multiparametric MRI of Epiphyseal Cartilage Necrosis (Osteochondrosis) with Histological Validation in a Goat Model

    PubMed Central

    Wang, Luning; Nissi, Mikko J.; Tóth, Ferenc; Shaver, Jonah; Johnson, Casey P.; Zhang, Jinjin; Garwood, Michael; Carlson, Cathy S.; Ellermann, Jutta M.

    2015-01-01

    Purpose To evaluate multiple MRI parameters in a surgical model of osteochondrosis (OC) in goats. Methods Focal ischemic lesions of two different sizes were induced in the epiphyseal cartilage of the medial femoral condyles of goats at 4 days of age by surgical transection of cartilage canal blood vessels. Goats were euthanized and specimens harvested 3, 4, 5, 6, 9 and 10 weeks post-op. Ex vivo MRI scans were conducted at 9.4 Tesla for mapping the T1, T2, T1ρ, adiabatic T1ρ and TRAFF relaxation times of articular cartilage, unaffected epiphyseal cartilage, and epiphyseal cartilage within the area of the induced lesion. After MRI scans, safranin O staining was conducted to validate areas of ischemic necrosis induced in the medial femoral condyles of six goats, and to allow comparison of MRI findings with the semi-quantitative proteoglycan assessment in corresponding safranin O-stained histological sections. Results All relaxation time constants differentiated normal epiphyseal cartilage from lesions of ischemic cartilage necrosis, and the histological staining results confirmed the proteoglycan (PG) loss in the areas of ischemia. In the scanned specimens, all of the measured relaxation time constants were higher in the articular than in the normal epiphyseal cartilage, consistently allowing differentiation between these two tissues. Conclusions Multiparametric MRI provided a sensitive approach to discriminate between necrotic and viable epiphyseal cartilage and between articular and epiphyseal cartilage, which may be useful for diagnosing and monitoring OC lesions and, potentially, for assessing effectiveness of treatment interventions. PMID:26473611

  10. Time course of epiphyseal growth plate fusion in rat tibiae

    NASA Technical Reports Server (NTRS)

    Martin, E. A.; Ritman, E. L.; Turner, R. T.

    2003-01-01

    Although the rat is the most common animal model used in studying osteoporosis, it is often used inappropriately. Osteoporosis is a disease that most commonly occurs in humans long after growth plate fusion with the associated cessation of longitudinal bone growth, but there has been a question as to when or to what extent the rat growth plate fuses. To investigate this question, we used microcomputed X-ray tomography, at voxel resolutions ranging from (5.7 micro m)(3) to (11 micro m)(3), to image the proximal epiphyseal growth plates of both male (n = 19) and female (n = 15) rat tibiae, ranging in age from 2 to 25 months. The three-dimensional images were used to evaluate fusion of the epiphyseal growth plate by quantitating the amount of cancellous bone that has bridged across the growth plate. The results suggest that the time course of fusion of the epiphyseal growth plate follows a sigmoidal pattern, with 10% of the maximum number of bridges having formed by 3.9 months in the male tibiae and 5.8 months in the female tibiae, 50% of the maximum number of bridges having formed by 5.6 months in the male tibiae and 5.9 months in the female tibiae, and 90% of the total maximum of bridges have formed by 7.4 months for the males and 6.5 months for the females. The total volume of bridges per tibia at the age at which the maximum number of bridges per tibia has first formed is 0.99 mm(3)/tibia for the males and 0.40 mm(3)/tibia for the females. After the maximum number of bridges (-290 for females, -360 for males) have formed the total volume of bridges per tibia continues to increase for an additional 7.0 months in the males and 17.0 months for the females until they reach maximum values (-1.5 mm(3)/tibia for the males and -2.2 mm(3)/tibia for the females).

  11. Bilateral Second Carpal Row Duplication Associated with Multiple Epiphyseal Dysplasia.

    PubMed

    Cladiere-Nassif, Victoire; Delaroche, Caroline; Pottier, Edwige; Feron, Jean-Marc

    2015-11-01

    We report a case of a 75-year-old woman presenting a hitherto undescribed condition of bilateral second carpal row duplication. She was diagnosed in childhood with both Marfan and Ehlers-Danlos syndromes, with no clear evidence and no further medical follow-up. She presented throughout her life with various articular symptoms, which appeared to be compatible with a diagnosis of multiple epiphyseal dysplasia, and underwent several surgical procedures on her knees and hips. Most recently, she was reporting pain at the base of the fifth metacarpal bone of the left hand. X-ray images and computed tomography (CT) were obtained for exploration and showed a total second row duplication in both carpi, with a total number of 18 carpal bones in each wrist. PMID:26649258

  12. Automated Classification of Epiphyses in the Distal Radius and Ulna using a Support Vector Machine.

    PubMed

    Wang, Ya-hui; Liu, Tai-ang; Wei, Hua; Wan, Lei; Ying, Chong-liang; Zhu, Guang-you

    2016-03-01

    The aim of this study was to automatically classify epiphyses in the distal radius and ulna using a support vector machine (SVM) and to examine the accuracy of the epiphyseal growth grades generated by the support vector machine. X-ray images of distal radii and ulnae were collected from 140 Chinese teenagers aged between 11.0 and 19.0 years. Epiphyseal growth of the two elements was classified into five grades. Features of each element were extracted using a histogram of oriented gradient (HOG), and models were established using support vector classification (SVC). The prediction results and the validity of the models were evaluated with a cross-validation test and independent test for accuracy (PA ). Our findings suggest that this new technique for epiphyseal classification was successful and that an automated technique using an SVM is reliable and feasible, with a relative high accuracy for the models. PMID:27404614

  13. Slipped femoral capital epiphyses in irradiated children: dose, volume and age relationships

    SciTech Connect

    Silverman, C.L.; Thomas, P.R.M.; McAlister, W.H.; Walker, S.; Whiteside, L.A.

    1981-10-01

    Between 1960 and 1979, 50 patients under 15 years of age received radiotherapy to the pelvis including the non-fused capital femoral epiphyseal plate. A total of 83 epiphyseal plates were at risk. Eight epiphyseal plates (9.6%) in five patients were abnormal: symptomatic capital femoral epiphyseal slippage--4, asymptomatic slippage--1, severe epiphyseal abnormalities of radiographs--3. No complication occurred below doses of 2,500 rad (25 Gy). Children under the age of 4 at time of irradiation were at a higher risk (7/15-47%) than those over 4 years of age (1/21-4.7%). Most slippages occurred at ages between 8 and 10 years. No dose response curve was obtained--higher doses above the threshold dose of 2,500 rad did not increase the incidence of slippage. A mechanism of action is postulated. This is a preventable complication; judicious use of primary or secondary blocking systems can eliminate or limit the dose to the non-fused epiphyseal plate and prevent later morbid complications.

  14. A systematic approach to magnetic resonance imaging evaluation of epiphyseal lesions.

    PubMed

    Thawait, Shrey K; Thawait, Gaurav K; Frassica, Frank J; Andreisek, Gustav; Carrino, John A; Chhabra, Avneesh

    2013-04-01

    Magnetic Resonance Imaging (MRI) is the preferred modality of choice to image epiphyseal lesions. It provides excellent soft tissue resolution and extent of disease. A wide spectrum of tumor and tumor like lesions can involve the epiphysis. Early and accurate diagnosis as well as appropriate management of epiphyseal lesions is critical as these conditions may lead to disabling complications such as, limb length discrepancy, angular or joint surface deformities and secondary osteoarthritis. In this article, we discuss the role of conventional sequences, such as T1W, fluid sensitive T2W and intravenous (IV) Gadolinium enhanced sequences as well as the additional value of problem solving MRI sequences such as, chemical shift and diffusion weighted imaging. Based on the imaging findings on various MRI sequences and lesion characteristics, a systematic approach directed to the diagnoses of epiphyseal lesions is presented and discussed. MRI features of clinically and biopsy proven examples of the epiphyseal lesions, such as osteomyelitis, intra-osseous abscess, infiltrative malignancy, metastases, transient osteoporosis, subchondral insufficiency fracture, avascular necrosis, osteochondral fracture, osteochondritis dissecans, eosinophilic granuloma and geode are demonstrated. Using this systematic approach, the reader will be able to better characterize epiphyseal lesions with a potential to positively affect patient management. PMID:23102949

  15. Age related changes and osteochondrosis in swine articular and epiphyseal cartilage: light ane electron microscopy.

    PubMed

    Bhatnagar, R; Christian, R G; Nakano, T; Aherne, F X; Thompson, J R

    1981-04-01

    Age related changes and osteochondrosis in swine were studied using light microscopy and electron microscopy in articular cartilage and light microscopy and epiphyseal cartilage of swine from three days to 30 weeks of age. Thickness, cellularity and vascularity of both the epiphyseal and articular cartilage, decreased as the swine aged. Osteochondrotic changes included formation of "plugs" of cartilage indicating localized failure of ossification and separation and space formation in epiphyseal cartilage. Eosinophilic streaks and space formation in epiphyseal cartilage was observed in relation to epiphyseal separation. Electron microscopy showed a continuous fibrillar layer on the surface of the cartilage corresponding to the lamina splendens of light microscopy. This layer increased in the thickness and showed accumulation of amorphous material between the fibrils with aging. In the matrix, the orientation and distribution of the collagen fibers changed with growth and thicker fibers with clear sub banding were more common in older age groups. Also, necrotic cells, glycogen containing bodies and cellular debris were noticed in the matrix of normal cartilage in old animals. Chondrocytes in the younger cartilage showed accumulation of organelles responsible for protein synthesis; while Golgi bodies, vesicles, lysosomes, well developed foot processes and other inclusions were noticed in older cartilage. Cartilage erosions had a clumped and disrupted lamina splendens on the surface and electron lucent patches in the ground substances of the matrix and chondrocyte cytoplasm. PMID:7260732

  16. Cartilaginous Epiphyses in Extant Archosaurs and Their Implications for Reconstructing Limb Function in Dinosaurs

    PubMed Central

    Holliday, Casey M.; Ridgely, Ryan C.; Sedlmayr, Jayc C.; Witmer, Lawrence M.

    2010-01-01

    Extinct archosaurs, including many non-avian dinosaurs, exhibit relatively simply shaped condylar regions in their appendicular bones, suggesting potentially large amounts of unpreserved epiphyseal (articular) cartilage. This “lost anatomy” is often underappreciated such that the ends of bones are typically considered to be the joint surfaces, potentially having a major impact on functional interpretation. Extant alligators and birds were used to establish an objective basis for inferences about cartilaginous articular structures in such extinct archosaur clades as non-avian dinosaurs. Limb elements of alligators, ostriches, and other birds were dissected, disarticulated, and defleshed. Lengths and condylar shapes of elements with intact epiphyses were measured. Limbs were subsequently completely skeletonized and the measurements repeated. Removal of cartilaginous condylar regions resulted in statistically significant changes in element length and condylar breadth. Moreover, there was marked loss of those cartilaginous structures responsible for joint architecture and congruence. Compared to alligators, birds showed less dramatic, but still significant changes. Condylar morphologies of dinosaur limb bones suggest that most non-coelurosaurian clades possessed large cartilaginous epiphyses that relied on the maintenance of vascular channels that are otherwise eliminated early in ontogeny in smaller-bodied tetrapods. A sensitivity analysis using cartilage correction factors (CCFs) obtained from extant taxa indicates that whereas the presence of cartilaginous epiphyses only moderately increases estimates of dinosaur height and speed, it has important implications for our ability to infer joint morphology, posture, and the complicated functional movements in the limbs of many extinct archosaurs. Evidence suggests that the sizes of sauropod epiphyseal cartilages surpassed those of alligators, which account for at least 10% of hindlimb length. These data suggest that

  17. Manganese levels and the morphology of the epiphyseal plate in broilers with slipped tendons.

    PubMed

    Thomas, K W; Lowther, D A

    1976-09-01

    Manganese deficiency in chickens results in perosis and a higher incidence of slipped tendon. Perosis is associated with a disorganization of the epiphyseal growth plates and changes in the chemical composition of the cartilage matrix. Male broilers with slipped tendons were selected from a commercial broiler farm over a 9 week growing period. Their growth rates, epiphyseal cartilage histology and tissue manganese concentrations were examined and compared with (a) normal broilers from the same farm, and (b) similar broilers raised on control and manganese deficient diets. Field broilers with slipped tendons showed no evidence of abnormality in the histological appearance of the proximal tibial growth plate at any of the ages examined. The manganese content of liver and epiphyseal cartilage from field broilers showing slipped tendon was comparable with that present in tissue from normal broilers wither from the field or raised on a chemically defined diey supplemented with managese. The slightly retared growth rate seen in the field broilers was attributed to feeding problems associated with the lameness condition. These results provide conclusive evidence that slipped tendon in field broilers is not dur to a manganese deficiency in the tissues, nor does it appear to be associated with abnormal proliferation of the chondrocytes in the epiphyseal plate. PMID:995818

  18. Age related changes and osteochondrosis in swine articular and epiphyseal cartilage: light ane electron microscopy.

    PubMed Central

    Bhatnagar, R; Christian, R G; Nakano, T; Aherne, F X; Thompson, J R

    1981-01-01

    Age related changes and osteochondrosis in swine were studied using light microscopy and electron microscopy in articular cartilage and light microscopy and epiphyseal cartilage of swine from three days to 30 weeks of age. Thickness, cellularity and vascularity of both the epiphyseal and articular cartilage, decreased as the swine aged. Osteochondrotic changes included formation of "plugs" of cartilage indicating localized failure of ossification and separation and space formation in epiphyseal cartilage. Eosinophilic streaks and space formation in epiphyseal cartilage was observed in relation to epiphyseal separation. Electron microscopy showed a continuous fibrillar layer on the surface of the cartilage corresponding to the lamina splendens of light microscopy. This layer increased in the thickness and showed accumulation of amorphous material between the fibrils with aging. In the matrix, the orientation and distribution of the collagen fibers changed with growth and thicker fibers with clear sub banding were more common in older age groups. Also, necrotic cells, glycogen containing bodies and cellular debris were noticed in the matrix of normal cartilage in old animals. Chondrocytes in the younger cartilage showed accumulation of organelles responsible for protein synthesis; while Golgi bodies, vesicles, lysosomes, well developed foot processes and other inclusions were noticed in older cartilage. Cartilage erosions had a clumped and disrupted lamina splendens on the surface and electron lucent patches in the ground substances of the matrix and chondrocyte cytoplasm. Images Fig. 1. Fig. 2 and 3. Fig. 4. Fig. 5. Fig. 6. Fig. 7. Fig. 8. Fig. 9. Fig. 10 and 11. Fig. 12. Fig. 13. Fig. 14. Fig. 15. Fig. 16. Fig. 17. Fig. 18. PMID:7260732

  19. Sudden death in spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.

    PubMed

    Dias, Cristina; Cairns, Robyn; Patel, Millan S

    2009-01-01

    The spondylo-meta-epiphyseal dysplasias are an expanding group of skeletal dysplasias with specific features differentiating each subtype. We review the precocious carpal mineralization, unique metacarpal shape, triangular distal phalanges and mushroom cloud-shaped proximal phalanges present at an early age in spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type (SMED SL-AC) and report two patients with clinical and radiographic features consistent with SMED SL-AC, who died suddenly because of spinal cord compression. The patients presented are female siblings, providing further evidence for autosomal recessive inheritance. Cervical cord compression is found in half of reported patients and is the major cause of mortality. SMED SL-AC should be added to the list of genetic causes of sudden death. Radiological features in the hand may be used in the first few years of life to support an early diagnosis and thus allow for prevention of premature demise. PMID:19050401

  20. The effects of low-level laser therapy, 670 nm, on epiphyseal growth in rats.

    PubMed

    de Andrade, Adriana Regina; Meireles, Anamaria; Artifon, Elisangela Lourdes; Brancalhão, Rose Meire Costa; Ferreira, José Roberto Leonel; Bertolini, Gladson Ricardo Flor

    2012-01-01

    The longitudinal growth of long bones is attributed to epiphyseal growth. However, the effects of low-level laser therapy (LLLT) in such structures has still not been studied extensively in the literature. Therefore, the aim of this study was to evaluate the use of LLLT, 670 nm, at three different doses on the epiphyseal growth of the right tibia of rats. Twenty-one Wistar rats, aged four weeks, were subjected to the application of LLLT, with dosage according to the group (G4: were submitted to the application of 4 J/cm(2); G8: were submitted to the application of 8 J/cm(2); G16: were submitted to the application of 16 J/cm(2)). After completion of protocol they were kept until they were 14 weeks of age and then submitted to a radiological examination (evaluation of limb length) and euthanised. The histological analysis of the growth plates (total thickness and hypertrophic and proliferative zones) was then performed. Comparisons were made with the untreated left tibia. No differences were observed in any of the reviews (radiological and histological), when comparing the right sides (treated) to the left (untreated). It was concluded that the treatment with LLLT within the parameters used caused changes neither in areas of the epiphyseal cartilage nor in the final length of limbs. PMID:22654576

  1. Delayed hypertrophic differentiation of epiphyseal chondrocytes contributes to failed secondary ossification in mucopolysaccharidosis VII dogs.

    PubMed

    Peck, Sun H; O'Donnell, Philip J M; Kang, Jennifer L; Malhotra, Neil R; Dodge, George R; Pacifici, Maurizio; Shore, Eileen M; Haskins, Mark E; Smith, Lachlan J

    2015-11-01

    Mucopolysaccharidosis (MPS) VII is a lysosomal storage disorder characterized by deficient β-glucuronidase activity, which leads to the accumulation of incompletely degraded glycosaminoglycans (GAGs). MPS VII patients present with severe skeletal abnormalities, which are particularly prevalent in the spine. Incomplete cartilage-to-bone conversion in MPS VII vertebrae during postnatal development is associated with progressive spinal deformity and spinal cord compression. The objectives of this study were to determine the earliest postnatal developmental stage at which vertebral bone disease manifests in MPS VII and to identify the underlying cellular basis of impaired cartilage-to-bone conversion, using the naturally-occurring canine model. Control and MPS VII dogs were euthanized at 9 and 14 days-of-age, and vertebral secondary ossification centers analyzed using micro-computed tomography, histology, qPCR, and protein immunoblotting. Imaging studies and mRNA analysis of bone formation markers established that secondary ossification commences between 9 and 14 days in control animals, but not in MPS VII animals. mRNA analysis of differentiation markers revealed that MPS VII epiphyseal chondrocytes are unable to successfully transition from proliferation to hypertrophy during this critical developmental window. Immunoblotting demonstrated abnormal persistence of Sox9 protein in MPS VII cells between 9 and 14 days-of-age, and biochemical assays revealed abnormally high intra and extracellular GAG content in MPS VII epiphyseal cartilage at as early as 9 days-of-age. In contrast, assessment of vertebral growth plates and primary ossification centers revealed no significant abnormalities at either age. The results of this study establish that failed vertebral bone formation in MPS VII can be traced to the failure of epiphyseal chondrocytes to undergo hypertrophic differentiation at the appropriate developmental stage, and suggest that aberrant processing of Sox9 protein

  2. Effects of hyperprolactinemia on the tibial epiphyseal plate of mice treated with sex hormones.

    PubMed

    Wolff, Roberta B; Gomes, Regina Celia T; do Amaral, Vinicius C; da Silva, Priscilla L; Simoncini, Tommaso; Prosdocimi, Fabio Cesar; Simoes, Ricardo S; Simões, Manuel Jesus S; Baracat, Edmund C; Soares-Jr, José Maria

    2016-01-01

    The aim of this study was to evaluate the effects of metoclopramide-induced hyperprolactinemia on the tibial epiphyseal plate of hormone-treated oophorectomized mice. For this purpose, 18 animals with intact ovaries were allocated to two groups, M (metoclopramide) and V (vehicle). One hundred and eight oophorectomized animals were allocated to 12 subgroups: Oophx/V (vehicle); Ooph/M (metoclopramide); Oophx/V + E (vehicle + estradiol); Oophx/M + E (metoclopramide + estradiol); Oophx/V + P (vehicle + progesterone); Oophx/M + P (metoclopramide + progesterone); Oophx/V + T (vehicle + testosterone); Oophx/M + T (metoclopramide + testosterone); Oophx/V + E + P (Vehicle + estradiol + progesterone); Oophx/M + E + P (metoclopramide + estradiol + progesterone); Oophx/V + E + P + T (vehicle + estradiol + progesterone + testosterone); Oophx/M + E + P + T (metoclopramide + estradiol + progesterone + testosterone). After a 50-day treatment was performed histomorphometric and immunohistochemical cell death analysis. In the epiphyseal plate of the hyperprolactinemic and/or oophorectomized animals, cell proliferation and bone formation decreased, inducing intensified cell death. In the sex steroid-treated animals, estrogen boosted cell proliferation; progesterone, bone formation and testosterone, both cell proliferation and bone formation. These findings suggest that oophorectomy and hyperprolactinemia changed epiphyseal plate morphology causing cartilage degeneration. Treatment with combined sex steroids may diminish such deleterious effects. PMID:26193892

  3. Surgical Repair with External Fixation of Epiphyseal Fractures of the Proximal Phalanges of Three Fingers: A Case Report.

    PubMed

    Morisawa, Yasushi; Takayama, Shinichiro; Sato, Kazuki

    2015-10-01

    A 13-year-old girl sustained epiphyseal fractures of the proximal phalanges of the left index, middle, and ring fingers. Though manual reduction of the 3 fingers was possible, it was difficult to maintain the reduction due to severe instability of the middle and ring fingers, and closed reduction with external fixation was performed. At 4 years post-injury, the patient had no impairment of daily activities. The use of external fixation (1) causes no injury to the epiphyseal cartilage, (2) enables accurate reduction and maintenance of reduction, (3) is technically easier than pinning, (4) enables earlier range of motion (ROM) exercises of the proximal interphalangeal (PIP) and distal interphalangeal (DIP) joints of the externally fixated and other fingers, and (5) allows repeated fine adjustments after reduction. External fixation is an option for the treatment of children with highly unstable epiphyseal fractures of the proximal phalanges. PMID:26388013

  4. A case with oto-spondylo-mega-epiphyseal-dysplasia (OSMED): the clinical recognition and differential diagnosis.

    PubMed

    Karaer, Kadri; Rosti, Rasim Ozgür; Torun, Deniz; Sanal, Hatice Tuba; Bahçe, Muhterem; Güran, Sefik

    2011-01-01

    The oto-spondylo-mega-epiphyseal-dysplasia (OSMED) phenotype is an autosomal recessive trait that is a skeletal dysplasia with the hallmark findings of limb shortening, multiple skeletal and radiological abnormalities, mid-face hypoplasia with a flat nasal bridge, small upturned nasal tip, and sensorineural hearing loss. A 3.5-year-old girl born to consanguineous Turkish parents had characteristic facial features at birth: mid-face hypoplasia, mild hypertelorism, upslanting palpebral fissures, prominent supraorbital ridges, depressed nasal bridge, small upturned nasal tip, long philtrum, and micrognathia. Radiological examination at three years of age revealed large flaring metaphyses and wide flat epiphyses. The humerus and femur showed the characteristic dumbbell shape. She had bilateral hearing loss with no ophthalmologic findings. There is continuing debate over the clinical overlap and differential diagnosis of OSMED syndrome. The patient was examined considering Weissenbacher-Zweymuller, Stickler type 3, Marshall syndrome, and Kniest dysplasia as possible differential diagnoses. We believe that the presented patient clinically manifested features of OSMED syndrome. We would like to point out that the management of OSMED calls for a coordinated multidisciplinary approach. PMID:21980822

  5. Discontinuities in the endothelium of epiphyseal cartilage canals and relevance to joint disease in foals.

    PubMed

    Hellings, Ingunn Risnes; Ekman, Stina; Hultenby, Kjell; Dolvik, Nils Ivar; Olstad, Kristin

    2016-01-01

    Cartilage canals have been shown to contain discontinuous blood vessels that enable circulating bacteria to bind to cartilage matrix, leading to vascular occlusion and associated pathological changes in pigs and chickens. It is also inconsistently reported that cartilage canals are surrounded by a cellular or acellular wall that may influence whether bacterial binding can occur. It is not known whether equine cartilage canals contain discontinuous endothelium or are surrounded by a wall. This study aimed to examine whether there were discontinuities in the endothelium of cartilage canal vessels, and whether canals had a cellular or acellular wall, in the epiphyseal growth cartilage of foals. Epiphyseal growth cartilage from the proximal third of the medial trochlear ridge of the distal femur from six healthy foals that were 1, 24, 35, 47, 118 and 122 days old and of different breeds and sexes was examined by light microscopy (LM), transmission electron microscopy (TEM) and immunohistochemistry. The majority of patent cartilage canals contained blood vessels that were lined by a thin layer of continuous endothelium. Fenestrations were found in two locations in one venule in a patent cartilage canal located deep in the growth cartilage and close to the ossification front in the 118-day-old foal. Chondrifying cartilage canals in all TEM-examined foals contained degenerated endothelial cells that were detached from the basement membrane, resulting in gap formation. Thirty-three percent of all canals were surrounded by a hypercellular rim that was interpreted as contribution of chondrocytes to growth cartilage. On LM, 69% of all cartilage canals were surrounded by a ring of matrix that stained intensely eosinophilic and consisted of collagen fibres on TEM that were confirmed to be collagen type I by immunohistochemistry. In summary, two types of discontinuity were observed in the endothelium of equine epiphyseal cartilage canal vessels: fenestrations were observed in

  6. Stimulation of body weight increase and epiphyseal cartilage growth by insulin like growth factor

    NASA Technical Reports Server (NTRS)

    Ellis, S.

    1981-01-01

    The ability of insulin-like growth factor (IGF) to induce growth in hypophysectomized immature rats was tested by continuous infusion of the partially purified factor at daily doses of 6, 21, and 46 mU for an 8-day period. A dose-dependent growth of the proximal epiphyseal cartilage of the tibia and an associated stimulation of the primary spongiosa were produced by these amounts of IGF. The two highest doses of IGF also resulted in dose-dependent increases of body weight. Gel permeation of the sera at neutrality showed that the large-molecular-weight IGF binding protein was not induced by the infusion of IGF, whereas it ws generated in the sera of hypophysectomized rats that were infused with daily doses of 86 mU of human growth hormone.

  7. Late presented case of distal humerus epiphyseal separation in a newborn.

    PubMed

    Mane, Prajwal Prabhudev; Challawar, Nikhil Subhash; Shah, Hitesh

    2016-01-01

    The incidence of traumatic bone injuries occurring during birth is rare (1 per 1000 live births). Of all long bone fractures, the humerus is one of the commonest bones to be involved. However, distal humeral epiphyseal separation is rare and has seldom been written up in case reports and small case series. It warrants some critical assessment and appropriate attention. This injury is sometimes missed as it is difficult to diagnose at initial presentation. It may be mistaken for dislocation of the elbow, osteomyelitis, septic arthritis or brachial plexus injury, owing to lack of movement of the upper limb. Knowledge of its clinical and radiological findings will enable the treating physician to diagnose it at the appropriate time. Masterful observation is adequate treatment for this condition, and leads to a better clinical and radiological outcome. Timely diagnosis with an optimistic prognosis will prevent unnecessary parental apprehension. PMID:27247206

  8. Refinement of the localization of the gene responsible for spondylo epiphyseal dysplasia in Xp22

    SciTech Connect

    Hors-Cayla, M.C.; Heuertz, S.; Smahi, A.

    1994-09-01

    Spondylo epiphyseal dysplasia tarda (SEDL) (MIM 313400) is an X-linked recessive disease characterized by short stature which is caused by a growth defect of the vertebral bodies. Using RFLP markers, we have previously localized the gene responsible to Xp22 between DXS16 and DXS92 in a 13% recombination fraction interval. Further genetic analysis was carried out using microsatellite markers. As their localization with respect to the RFLP markers was unknown, we first obtained a physical map integrating RFLP and microsatellite markers, with the help of a panel of radiation reduced hybrids. Studying recombinants between the SEDL gene and RFLP and microsatellite markers, we refined the position of the gene on Xp22 between DXS16 and DXS987 on a 1 to 2 Mb chromosomal segment.

  9. [Fractures and slipped epiphyses of the proximal humerus in children. Place and methods of surgical treatment].

    PubMed

    Guibert, L; Allouis, M; Bourdelat, D; Catier, P; Bracq, H; Babut, J M

    1983-01-01

    Fractures and Epiphyseal separations of the proximal humerus are usually non-operatively treated with a generally good result. However, sometimes, a surgical treatment may be required. Twenty fractures of the proximal humerus occurring in children were treated operatively. From these 20 cases, the authors precise the indications and the ways of surgical treatment in this type of lesion. They insist upon the value of the angulation on the lateral radiograph of the shoulder which, if important, may often signify an interposition of the tendon of the long head of the biceps between the fracture fragments causing irreductibility; they propose a classification of the fractures referring to this angle. Considering surgical procedure, delto-pectoral approach is the most commonly used, although axillary way is more esthaetic. Kirschner wires and screws are the best means of synthesis. Anyway, this surgical treatment has to remain exceptional. PMID:6627539

  10. Responses of articular and epiphyseal cartilage zones of developing avian radii to estrone treatment and a 2-G environment

    NASA Technical Reports Server (NTRS)

    Negulesco, J. A.; Kossler, T.

    1978-01-01

    Histological measurements of radii from chickens exposed to estrone and hypergravity are reported. Female chicks at two weeks post-hatch were maintained for two weeks at earth gravity or 2 G with daily injections of 0.2 or 0.4 mg estrone. Animals were sacrificed after the last injection, and the radii were processed by described histological techniques. The results suggest that proximal and distal epiphyses of developing radii show different morphological responses to estrone and hypergravity.

  11. Genetic linkage mapping of multiple epiphyseal dysplasia to the pericentromeric region of chromosome 19.

    PubMed Central

    Oehlmann, R.; Summerville, G. P.; Yeh, G.; Weaver, E. J.; Jimenez, S. A.; Knowlton, R. G.

    1994-01-01

    Multiple epiphyseal dysplasia (MED) is an inherited chondrodystrophy that results in deformity of articular surfaces and in subsequent degenerative joint disease. The disease is inherited as an autosomal dominant trait with high penetrance. An MED mutation has been mapped by genetic linkage analysis of DNA polymorphisms in a single large pedigree. Close linkage of MED to 130 tested chromosomal markers was ruled out by discordant inheritance patterns. However, strong evidence for linkage of MED to markers in the pericentromeric region of chromosome 19 was obtained. The most closely linked marker was D19S215, with a maximum LOD score of 6.37 at theta = .05. Multipoint linkage analysis indicated that MED is located between D19S212 and D19S215, a map interval of 1.7 cM. Discovery of the map location of MED in this family will facilitate identification of the mutant gene. The closely linked DNA polymorphisms will also provide the means to determine whether other inherited chondrodystrophies have underlying defects in the same gene. PMID:8279467

  12. Automatic Segmentation of Phalanx and Epiphyseal/Metaphyseal Region by Gamma Parameter Enhancement Algorithm

    NASA Astrophysics Data System (ADS)

    Hsieh, C. W.; Chen, C. Y.; Jong, T. L.; Liu, T. C.; Chiu, C. H.

    2012-01-01

    The performance of bone age assessment is highly correlated with the extraction of bony tissue from soft tissues, and the key problem is how to successfully separate epiphyseal/metaphyseal region of interests (EMROIs) from the background and soft tissue. In our experiment, a series of image preprocessing procedures are used to exclude the background and locate the EMROIs of left-hand radiographs. Subsequently, automatic gamma parameter enhancement is applied to test the two segmentation methods (adaptive two-means clustering algorithm and gradient vector flow snake) among children of different age (the age from 2 to 16 years for 80 girls and boys). Four error measurements of misclassification error, relative foreground area error, modified Hausdorff distances, and edge mismatch, are included to evaluate the segmentation performance. The result shows that the two segmentation algorithms are corresponding to different ranges of optimal gamma parameters. Furthermore, the margin of EMROIs can be obtained more precisely by developing an automatic bone age assessment method with the gamma parameter enhancement.

  13. Epiphyseal Sparing and Reconstruction by Frozen Bone Autograft after Malignant Bone Tumor Resection in Children

    PubMed Central

    Hamed Kassem Abdelaal, Ahmed; Yamamoto, Norio; Hayashi, Katsuhiro; Takeuchi, Akihiko; Miwa, Shinji; Tsuchiya, Hiroyuki

    2015-01-01

    Limb salvage surgery has become the standard treatment for malignant primary bone tumors in the extremities. Limb salvage represents a challenge in skeletally immature patients. Several treatment options are available for limb reconstruction after tumor resection in children. We report our results using the technique of epiphyseal sparing and reconstruction with frozen autograft bone in 18 children. The mean follow-up period for the all patients included in this study is 72 ± 26 m. Eight patients remained disease-free, seven patients lived with no evidence of disease, two were alive but with disease, and one patient died of the disease. Five- and ten-year rates of survival were 94.4%. Graft survival at 5 and 10 years was 94.4%. Functional outcome using the Enneking scale was excellent in 17 patients (94.4%) and poor in one patient (5.5%). Complications include 2 nonunions, 2 fractures, 2 deep infections, 1 soft tissue recurrence, and leg length discrepancy in 7 cases. This technique is a good reconstructive choice in a child with a nonosteolytic primary or secondary bone tumor, responsive to chemotherapy, without involvement of the articular cartilage. It is a straight forward, effective, and biological technique, which affords immediate mobilization of joints and possible cryoimmune effects, with excellent long term functional outcome and less complication. PMID:27034614

  14. Isometric Scaling in Developing Long Bones Is Achieved by an Optimal Epiphyseal Growth Balance

    PubMed Central

    Stern, Tomer; Aviram, Rona; Rot, Chagai; Galili, Tal; Sharir, Amnon; Kalish Achrai, Noga; Keller, Yosi; Shahar, Ron; Zelzer, Elazar

    2015-01-01

    individual epiphyseal plates. PMID:26241802

  15. Deletion of IFT80 Impairs Epiphyseal and Articular Cartilage Formation Due to Disruption of Chondrocyte Differentiation

    PubMed Central

    Yuan, Xue; Yang, Shuying

    2015-01-01

    Intraflagellar transport proteins (IFT) play important roles in cilia formation and organ development. Partial loss of IFT80 function leads Jeune asphyxiating thoracic dystrophy (JATD) or short-rib polydactyly (SRP) syndrome type III, displaying narrow thoracic cavity and multiple cartilage anomalies. However, it is unknown how IFT80 regulates cartilage formation. To define the role and mechanism of IFT80 in chondrocyte function and cartilage formation, we generated a Col2α1; IFT80f/f mouse model by crossing IFT80f/f mice with inducible Col2α1-CreER mice, and deleted IFT80 in chondrocyte lineage by injection of tamoxifen into the mice in embryonic or postnatal stage. Loss of IFT80 in the embryonic stage resulted in short limbs at birth. Histological studies showed that IFT80-deficient mice have shortened cartilage with marked changes in cellular morphology and organization in the resting, proliferative, pre-hypertrophic, and hypertrophic zones. Moreover, deletion of IFT80 in the postnatal stage led to mouse stunted growth with shortened growth plate but thickened articular cartilage. Defects of ciliogenesis were found in the cartilage of IFT80-deficient mice and primary IFT80-deficient chondrocytes. Further study showed that chondrogenic differentiation was significantly inhibited in IFT80-deficient mice due to reduced hedgehog (Hh) signaling and increased Wnt signaling activities. These findings demonstrate that loss of IFT80 blocks chondrocyte differentiation by disruption of ciliogenesis and alteration of Hh and Wnt signaling transduction, which in turn alters epiphyseal and articular cartilage formation. PMID:26098911

  16. The aromatase inhibitor letrozole increases epiphyseal growth plate height and tibial length in peripubertal male mice.

    PubMed

    Eshet, R; Maor, G; Ben Ari, T; Ben Eliezer, M; Gat-Yablonski, G; Phillip, M

    2004-07-01

    Sex hormones may influence longitudinal growth, either indirectly, by affecting the growth-hormone-insulin-like growth factor I (IGF-I) axis, or directly, by affecting changes within the epiphyseal growth plate (EGP). The aim of the present study was to investigate the effects of letrozole, an aromatase inhibitor, on longitudinal growth and changes in the EGP in vivo. Eighteen peripubertal male mice were divided into three groups. The first group was killed at baseline, the second was injected with letrozole (Femara) s.c., 2 mg/kg body weight/day, for 10 days, and the third was injected with the vehicle alone. Serum testosterone levels were found to be significantly higher in the treated group than in the controls. Letrozole induced a significant increase in body weight, tail length and serum growth hormone level, but had no significant effect on the level of serum IGF-I. On histomorphometric study, there was a significant increase (12%) in EGP height in the treated animals compared with controls. Immunohistochemistry showed a 3.4-fold letrozole-induced increase in the proliferation of the EGP chondrocytes, as estimated by the number of proliferation cell nuclear antigen-stained cells, and a decrease in the differentiation of the EGP chondrocytes, as estimated by type X collagen staining. Letrozole did not interfere with type II collagen levels. The study group also showed a twofold increase in the number of IGF-I receptor-positive cells compared with controls. In conclusion, the aromatase inhibitor, letrozole, appears to increase the linear growth potential of the EGP in mice. PMID:15225141

  17. ALL‐EPIPHYSEAL ACL RECONSTRUCTION: A THREE‐YEAR FOLLOW‐UP

    PubMed Central

    Akinleye, Sheriff D.; Sewick, Amy

    2013-01-01

    Background/Introduction: With an increasing number of pre‐adolescents participating in sports, anterior cruciate ligament injuries and resultant reconstruction in the skeletally immature athlete are becoming more common. Many different surgical techniques and rehabilitation protocols have been proposed for the treatment of anterior cruciate ligament (ACL) injuries, but there is a lack of agreement as to which approach results in the best outcome. Rehabilitation protocols have marked variation regarding postoperative weight bearing, immobilization, bracing, and length. Case description: This is a case of a ten year old female who sustained bilateral ACL tears within the period of a year. The purpose of this case report is to describe the early result and subsequent rehabilitation following bilateral physeal‐sparing all‐epiphyseal ACL reconstructions on a skeletally immature patient with a three‐year follow‐up. Outcomes: The early post‐surgical recovery period on the first injured knee was complicated by knee stiffness requiring manipulation. Following this minor setback, the patient met all physical therapy goals and had no additional complications. The rehabilitation after the second surgery followed a typical course. At three‐year follow‐up, the patient had grown an additional seven inches, with radiographic evidence of symmetric physeal growth and joint stability. She has returned to playing competitive sports. Discussion and Conclusion: This innovative physeal‐sparing technique has huge implications as, historically; the feared complication of growth disturbance and angular deformity from transphyseal ACL reconstruction has complicated the management of ACL injuries in children and pre‐adolescents. This case report demonstrates the success of this technique, and the subsequent rehabilitation, as this patient did not experience a reduction in long‐term bone growth. Level of Evidence: 5 Case Report PMID:23772346

  18. A mathematical model of epiphyseal development: hypothesis on the cartilage canals growth.

    PubMed

    Garzon-Alvarado, Diego Alexander; Peinado Cortes, Liliana Mabel; Cardenas Sandoval, Rosy Paola

    2010-12-01

    The role of cartilage canals is to transport nutrients and biological factors that cause the appearance of the secondary ossification centre (SOC). The SOC appears in the centre of the epiphysis of long bones. The canal development is a complex interaction between mechanical and biological factors that guide its expansion into the centre of the epiphysis. This article introduces the 'Hypothesis on the growth of cartilage canals'. Here, we have considered that the development of these canals is an essential event for the appearance of SOC. Moreover, it is also considered to be important for the transport of molecular factors (RUNX2 and MMP9) at the ends of such canals. Once the canals are merged in the centre of the epiphysis, these factors are released causing hypertrophy of adjacent cells. This RUNX2 and MMP9 release occurs due to the action of mechanical loads that supports the epiphysis. In order to test this hypothesis, we use a hybrid approach using the finite element method to simulate the mechanical stresses present in the epiphysis and the cellular automata to simulate the expansion of the canals and the hypertrophy factors pathway. By using this hybrid approach, we have obtained as a result the spatial-temporal patterns for the growth of cartilage canals and hypertrophy factors within the epiphysis. The model is in qualitative agreement with experimental results previously reported by other authors. Thus, we conclude that this model may be used as a methodological basis to present a complete mathematical model of the processes involved in epiphyseal development. PMID:20526919

  19. Deletion of IFT80 Impairs Epiphyseal and Articular Cartilage Formation Due to Disruption of Chondrocyte Differentiation.

    PubMed

    Yuan, Xue; Yang, Shuying

    2015-01-01

    Intraflagellar transport proteins (IFT) play important roles in cilia formation and organ development. Partial loss of IFT80 function leads Jeune asphyxiating thoracic dystrophy (JATD) or short-rib polydactyly (SRP) syndrome type III, displaying narrow thoracic cavity and multiple cartilage anomalies. However, it is unknown how IFT80 regulates cartilage formation. To define the role and mechanism of IFT80 in chondrocyte function and cartilage formation, we generated a Col2α1; IFT80f/f mouse model by crossing IFT80f/f mice with inducible Col2α1-CreER mice, and deleted IFT80 in chondrocyte lineage by injection of tamoxifen into the mice in embryonic or postnatal stage. Loss of IFT80 in the embryonic stage resulted in short limbs at birth. Histological studies showed that IFT80-deficient mice have shortened cartilage with marked changes in cellular morphology and organization in the resting, proliferative, pre-hypertrophic, and hypertrophic zones. Moreover, deletion of IFT80 in the postnatal stage led to mouse stunted growth with shortened growth plate but thickened articular cartilage. Defects of ciliogenesis were found in the cartilage of IFT80-deficient mice and primary IFT80-deficient chondrocytes. Further study showed that chondrogenic differentiation was significantly inhibited in IFT80-deficient mice due to reduced hedgehog (Hh) signaling and increased Wnt signaling activities. These findings demonstrate that loss of IFT80 blocks chondrocyte differentiation by disruption of ciliogenesis and alteration of Hh and Wnt signaling transduction, which in turn alters epiphyseal and articular cartilage formation. PMID:26098911

  20. Relationship between the chondrocyte maturation cycle and the endochondral ossification in the diaphyseal and epiphyseal ossification centers.

    PubMed

    Pazzaglia, Ugo E; Congiu, Terenzio; Sibilia, Valeria; Pagani, Francesca; Benetti, Anna; Zarattini, Guido

    2016-09-01

    The chondrocyte maturation cycle and endochondral ossification were studied in human, fetal cartilage Anlagen and in postnatal meta-epiphyses. The relationship between the lacunar area, the inter-territorial fibril network variations, and calcium phosphorus nucleation in primary and secondary ossification centers were assessed using light microscopy and scanning electron microscopy (SEM) morphometry. The Anlage topographic, zonal classification was derived from the anatomical nomenclature of the completely developed long bone (diaphysis, metaphyses and epiphyses). A significant increase in the chondrocyte lacunar area was documented in the Anlage of epiphyseal zones 4 and 3 to zone 2 (metaphysis) and zone 1 (diaphysis), with the highest variation from zone 2 to zone 1. An inverse reduction in the intercellular matrix area and matrix interfibrillar empty space was also documented. These findings are consistent with the osmotic passage of free cartilage water from the interfibrillar space into the swelling chondrocytes, which increased the ion concentrations to a critical threshold for mineral precipitation in the matrix. The mineralized cartilage served as a scaffold for osteoblast apposition both in primary and secondary ossification centers and in the metaphyseal growth plate cartilage, though at different periods of bone Anlage development and with distinct patterns for each zone. All developmental processes shared a common initial pathway but progressed at different rates, modes and organization in diaphysis, metaphysis and epiphysis. In the ossification phase the developing vascular supply appeared to play a key role in determining the cortical or trabecular structure of the long bones. J. Morphol. 277:1187-1198, 2016. © 2016 Wiley Periodicals, Inc. PMID:27312928

  1. Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation.

    PubMed

    Superti-Furga, A; Neumann, L; Riebel, T; Eich, G; Steinmann, B; Spranger, J; Kunze, J

    1999-08-01

    We have observed over 25 different mutations in the diastrophic dysplasia sulphate transporter gene (DTDST) in association with the recessive disorders achondrogenesis 1B, atelosteogenesis 2, and diastrophic dysplasia. The c862t (R279W) transition is the most common mutation in non-Finnish patients, but in these disorders it is usually combined with other DTDST mutations. We had not seen a case of homozygosity for c862t (R279W) until we analysed DNA from a 36 year old male with tall-normal stature (180 cm) who asked for genetic counselling for suspected multiple epiphyseal dysplasia. He was treated for club foot and hip dysplasia at birth. Skeletal changes consistent with multiple epiphyseal dysplasia, with the peculiar finding of a double layered patella, were recognised during childhood. Cleft palate, swelling of the ear pinna, and hitch hiker thumb were absent. He was found to be homozygous, and both healthy parents heterozygous, for the R279W mutation in DTDST, and his fibroblasts showed a sulphate incorporation defect typical of DTDST disorders. Counselling was given for a recessive disorder, thereby considerably reducing the probability of affected offspring. Multiple epiphyseal dysplasia is more frequently caused by dominant mutations in the COMP (EDM1, McKusick 132400) and COL9A2 genes (EDM2, McKusick 600204). A few other patients and families with features similar to our proband have been described previously and considered to have autosomal recessive MED (EDM4, McKusick 226900). This observation confirms the existence of this entity and assigns it to the phenotypic spectrum associated with mutations at the DTDST locus. PMID:10465113

  2. Galeazzi - Equivalent Pronation Type Injury with Splitting of Ulnar Epiphyseal Plate into Two Fragments – A Rare Case Report and Review of Literature

    PubMed Central

    J, Ashish Suthar; V, Ashish Kothari

    2014-01-01

    Introduction: In children and adolescents distal forearm physeal fractures are common. Usually distal forearm physeal injuries of are common injuries in children and adolescents. Epiphyseal injuries to the distal radius are common in children, but involvement of the distal ulna is rare. Fracture of the distal radius with dislocation of the DRUJ is known as a True Galeazzi fracture dislocation and an epiphyseal separation of the distal ulna occurred instead of dislocation of DRUJ or both)[10] is called Galeazzi equivalent lesions. Galeazzi fractures in children are less common than in adults. [4] These injuries are uncommon and there are few descriptions of them in the current literature. Case Report: Here we report the case of a 13-year-old boy, student with history of RTA presented with pain and swelling of distal forearm diagnosed with closed injury of Galeazzi equivalent type. Here injury to the distal ulnar epiphyseal plate is in the form of epiphyseal separation (Salter Harris type I / Peterson type III) with splitting of epiphysis into two fragment – [ulnar styloid & radial side of ulnar epiphyseal plate] (Salter Harris type III / Peterson type IV) with fracture of metaphysis of lower end radius (Peterson type I) without neurovascular deficit. Patient was given surgical treatment in the form of closed reduction and K-wire fixation for fracture of distal radius and open reduction using extended ulnar approach and fixation with K-wire for ulnar epiphyseal fracture as closed reduction was not possible due to soft tissue interposition. Conclusion: Galeazzi equivalent injury is rare. It may require radiographic comparison of opposite uninvolved distal forearm with wrist, CT or MR imaging to define injury accurately. It may also require open reduction for anatomical or acceptable reduction of fracture to minimize chances of growth arrest which may occur as a complication of injury. It is also necessary for frequent follow up to identify complication early

  3. Multipurpose contrast enhancement on epiphyseal plates and ossification centers for bone age assessment

    PubMed Central

    2013-01-01

    Background The high variations of background luminance, low contrast and excessively enhanced contrast of hand bone radiograph often impede the bone age assessment rating system in evaluating the degree of epiphyseal plates and ossification centers development. The Global Histogram equalization (GHE) has been the most frequently adopted image contrast enhancement technique but the performance is not satisfying. A brightness and detail preserving histogram equalization method with good contrast enhancement effect has been a goal of much recent research in histogram equalization. Nevertheless, producing a well-balanced histogram equalized radiograph in terms of its brightness preservation, detail preservation and contrast enhancement is deemed to be a daunting task. Method In this paper, we propose a novel framework of histogram equalization with the aim of taking several desirable properties into account, namely the Multipurpose Beta Optimized Bi-Histogram Equalization (MBOBHE). This method performs the histogram optimization separately in both sub-histograms after the segmentation of histogram using an optimized separating point determined based on the regularization function constituted by three components. The result is then assessed by the qualitative and quantitative analysis to evaluate the essential aspects of histogram equalized image using a total of 160 hand radiographs that are implemented in testing and analyses which are acquired from hand bone online database. Result From the qualitative analysis, we found that basic bi-histogram equalizations are not capable of displaying the small features in image due to incorrect selection of separating point by focusing on only certain metric without considering the contrast enhancement and detail preservation. From the quantitative analysis, we found that MBOBHE correlates well with human visual perception, and this improvement shortens the evaluation time taken by inspector in assessing the bone age. Conclusions

  4. The canine epiphyseal-derived mesenchymal stem cells are comparable to bone marrow derived-mesenchymal stem cells

    PubMed Central

    CHANG, Ya-Pei; HONG, Hsuan-Ping; LEE, Yen-Hua; LIU, I-Hsuan

    2014-01-01

    Mesenchymal stem cells (MSCs) hold great potential in cell therapy and have attracted increasing interests in a wide range of biomedical sciences. However, the scarcity of MSCs and the prolonged isolation procedure limited the clinical application. To address these 2 issues, we developed a method to isolate MSCs from bone biopsy tissues of euthanized canine body donors. Compared to the traditional method to isolate MSCs from aspirated bone marrow (BMSCs), the isolation procedure for MSCs from harvested epiphyseal cancellous bone (EMSCs) was less time-consuming. The isolated EMSCs had similar plastic-adherence, tri-lineage differentiation and consistent surface marker profiles compared to BMSCs. We harvested BMSCs and EMSCs from 24 euthanized cases from clinics and 42 euthanized donors from a local shelter. The successful rate for EMSC isolation is significantly higher compared to BMSC isolation, while the other properties of the isolated MSCs including the clonogenicity, proliferative potentials and molecular phenotypes were not discernibly different between the MSCs established by the two methods. In conclusion, we demonstrated a new procedure to harvest MSCs by bone biopsy at the epiphyseal region. This method is less time consuming and more reliable, and the resulting MSCs are comparable to those harvested by bone marrow aspiration. The combination of the two methods can greatly improve the efficiency to harvest MSCs. PMID:25391394

  5. SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia (rMED).

    PubMed

    Mäkitie, O; Geiberger, S; Horemuzova, E; Hagenäs, L; Moström, E; Nordenskjöld, M; Grigelioniene, G; Nordgren, A

    2015-03-01

    Diastrophic dysplasia (DTD) is an autosomal recessive skeletal dysplasia caused by SLC26A2 mutations. Clinical features include short stature, joint contractures, spinal deformities, and cleft palate. SLC26A2 mutations also result in other skeletal dysplasias, including the milder recessive multiple epiphyseal dysplasia (rMED). DTD is overrepresented in Finland and we speculated that this may have influenced the prevalence and spectrum of SLC26A2-related skeletal conditions also in Sweden. We reviewed the patient registry at Department of Clinical Genetics, Karolinska University Hospital, Stockholm to identify subjects with SLC26A2 mutations. Seven patients from six families were identified; clinical data were available for six patients. All but one patient had one or two copies of the Finnish SLC26A2 founder mutation IVS1+2T>C. Arg279Trp mutation was present in compound heterozygous form in five patients with phenotypes consistent with rMED. Their heights ranged from -2.6 to -1.4 standard deviation units below normal mean and radiographic features included generalised epiphyseal dysplasia and double-layered patellae. Two rMED patients had hypoplastic C2 and cervical kyphosis, a severe manifestation previously described only in DTD. Our study confirms a high prevalence of rMED in Sweden and expands the phenotypic manifestations of rMED. PMID:24598000

  6. Biomechanical reasons for the divergent morphology of the knee joint and the distal epiphyseal suture in hominoids.

    PubMed

    Preuschoft, H; Tardieu, C

    1996-01-01

    The obliquity of the femoral diaphysis accounts for the valgus position of the human knee joint and reduces bending moments in the frontal plane. A high angle of obliquity is considered a hallmark of hominid bipedality, but its functional importance has rarely been identified correctly. A biostatic investigation of the knee joint in various realistic positions unveils resultant joint forces which do not deviate greatly from the long axis of the femoral shaft. This is due to the length of the femur and to the shortness of the human foot. The flat epiphyseal suture is more or less perpendicular to these joint forces, and the equal size of the femoral condyles reflects the even distribution of forces between them. In great apes the resultant forces acting in the knee joint vary considerably in dependence on the degree of flexion and rotation of the knee joint. The resultant joint force may be line with the femur shaft or diverge. The epiphyseal surfaces offer facets to all joint forces found in the course of the study. Due to the pronounced varus position of the knee joint, the joint itself and the adjacent part of the femur are under medially concave bending moments, which lead to higher compressive forces at the medial than at the lateral condyle. The enlarged medial condyle allows the distribution of medially displaced joint forces over a relatively large area, and the elliptic cross-section yields high bending resistance in the frontal plane. A human-like angle of obliquity is present in the early australopithecines, the values being mostly within the range of variation of children. The valgus position of the australopithecine knee joint is considered to be a functional, and epigenetic consequence of habitual bipedality. It is particularly pronounced because of the short length of the femur and the great bitrochanteric width. PMID:8953752

  7. Accuracy of scoring of the epiphyses at the knee joint (SKJ) for assessing legal adult age of 18 years.

    PubMed

    Galić, Ivan; Mihanović, Frane; Giuliodori, Alice; Conforti, Federica; Cingolani, Mariano; Cameriere, Roberto

    2016-07-01

    Important aspects of forensic practice are age estimation and discrimination of individuals of unknown age as adults and minors. The developing knee joint was recognized as a potential site for age examination in late adolescence. We analyzed a sample of anteroposterior x-rays of the knee joints from 446 living individuals from Umbria, Italy (234 males and 212 females), aged between 12 and 26 years. We evaluated the ossification of the distal femoral (DF), proximal tibial (PT), and proximal fibular (PF) epiphyses. We took into account possible persistence of the epiphyseal scars in the ossified epiphyses by the adopted stages of those previously introduced by Cameriere et al. (2012). We also used measurements from all three epiphyses to calculate the total score of maturation for the knee joint (SKJ). Cohen Kappa coefficients of intrarater agreement for staging the DF, PT, and PF epiphyses were 0.839, 0.894, and 0.907, while interrater agreement was 0.919, 0.791, and 0.907, respectively. The resulting receiver operating characteristic (ROC) curves of SKJ show better discriminatory power than those for DF, PT, and PF epiphyses in predicting that the participant, either male or female, was an adult or a minor. The areas under the curves for SKJ were 0.991 and 0.968 vs. 0.944, 0.962, 0.974 and 0.891, 0.910, 0.918 for males and females, respectively. The results of the 2 by 2 contingency tables showed that SKJ score of 4 in males and SKJ score of 5 in females were the most suitable cut-off value in discriminating between adults and minors. Principally, the sensitivity test for males was 0.94, with 95 % confidence interval (95 % CI) 0.90 to 0.97 and specificity was 0.96 (95 % CI 0.91 to 0.98). The proportion of correctly classified individuals was 0.95 (95 % CI 0.91 to 0.97). For females, the sensitivity test was 0.89 (95 % CI 0.84 to 0.92) and specificity was 0.92 (95 % CI 0.87 to 0.96), the proportion of correctly classified individuals was 0.90 (95 % CI 0

  8. Precise localization of multiple epiphyseal dysplasia and pseudoachondroplasia mutations by genetic and physical mapping of chromosome 19

    SciTech Connect

    Knowlton, R.G.; Cekleniak, J.A.; Cohn, D.H.

    1994-09-01

    Multiple epiphyseal dysplasia (EDM1), a dominantly inherited chondrodysplasia resulting in peripheral joint deformities and premature osteoarthritis, and pseudoachondroplasia (PSACH), a more severe disorder associated with short-limbed dwarfism, have recently been mapped to the pericentromeric region of chromosome 19. Chondrocytes from some PSACH patients accumulate lamellar deposits in the endoplasmic reticulum that are immunologically cross-reactive with aggrecan. However, neither aggrecan nor any known candidate gene maps to the EDM1/PSACH region of chromosome 19. Genetic linkage mapping in two lage families had placed the disease locus between D19S215 (19p12) and D19S212 (19p13.1), an interval of about 3.5 Mb. With at least five potentially informative cross-overs within this interval, recombination mapping at greater resolution was undertaken. From cosmids assigned to the region by fluorescence in situ hybridization and contig assembly, dinucleotide repeat tracts were identified for use as polymorphic genetic markers. Linkage data from three new dinucleotide repeat markers from cosmids mapped between D19S212 and D19S215 limit the EDM1/PSACH locus to an interval spanning approximately 2 Mb.

  9. Experiment K-6-06. Morphometric and EM analyses of tibial epiphyseal plates from Cosmos 1887 rats

    NASA Technical Reports Server (NTRS)

    Duke, P. J.; Montufar-Solis, D.; Durnova, G.

    1990-01-01

    Light and electron microscopy studies were carried out on decalcified tibial epiphyseal plates of rats flown aboard Cosmos 1887 (12.5d flight plus 53.5h recovery). Analysis of variance showed that the proliferative zone of flight animals was significantly higher than that of synchronous controls, while the hypertrophic/calcification zone was significantly reduced. Flight animals had more cells than synchronous controls in the proliferative zone, and less in the hypertrophic/calcification region. The total number of cells, however, was significantly higher in flight animals. No differences were found for perimeter or shape factor of growth plates, but area was significantly lower in flight animals in comparison to synchronous controls. Collagen fibrils in flight animals were shorter and wider than in synchronous controls. The time required for a cell to cycle through the growth plate is 2 to 3 days, so most of the cells and matrix present were formed after the animals had returned to 1 g, and probably represent stages of recovery from microgravity exposure, which in itself is an interesting question.

  10. Correlation between primary stability and bone healing of surface treated titanium implants in the femoral epiphyses of rabbits.

    PubMed

    Rozé, Julie; Hoornaert, Alain; Layrolle, Pierre

    2014-08-01

    The aim of this study was to analyse the stability and osseointegration of surface treated titanium implants in rabbit femurs. The implants were either grit-blasted and acid-etched (BE Group), calcium phosphate (CaP) coated by using the electrodeposition technique, or had bioactive molecules incorporated into the CaP coatings: either cyclic adenosine monophosphate (cAMP) or dexamethasone (Dex). Twenty four cylindrical titanium implants (n = 6/group) were inserted bilaterally into the femoral epiphyses of New Zealand White, female, adult rabbits for 4 weeks. Implant stability was measured by resonance frequency analysis (RFA) the day of implantation and 4 weeks later, and correlated to histomorphometric parameters, bone implant contact (BIC) and bone growth around the implants (BS/TS 0.5 mm). The BIC values for the four groups were not significantly different. That said, histology indicated that the CaP coatings improved bone growth around the implants. The incorporation of bioactive molecules (cAMP and Dex) into the CaP coatings did not improve bone growth compared to the BE group. Implant stability quotients (ISQ) increased in each group after 4 weeks of healing but were not significantly different between the groups. A good correlation was observed between ISQ and BS/TS 0.5 mm indicating that RFA is a non-invasive method that can be used to assess the osseointegration of implants. In conclusion, the CaP coating enhanced bone formation around the implants, which was correlated to stability measured by resonance frequency analysis. Furthers studies need to be conducted in order to explore the benefits of incorporating bioactive molecules into the coatings for peri-implant bone healing. PMID:24818874

  11. Clinical use of deslorelin implants for the long-term contraception in prepubertal bitches: effects on epiphyseal closure, body development, and time to puberty.

    PubMed

    Kaya, D; Schäfer-Somi, S; Kurt, B; Kuru, M; Kaya, S; Kaçar, C; Aksoy, Ö; Aslan, S

    2015-04-15

    Long-acting GnRH agonists have been used both for canine estrus induction and prevention. The objective of the study was to investigate the use of a deslorelin implant as a long-term and reversible contraceptive in prepubertal bitches with special regard to the time of epiphyseal closure. Thirteen healthy, crossbreed, medium-sized prepubertal female dogs were used in this study. An implant containing 9.4 mg (G1, n = 5) and 4.7 mg (G2, n = 4) deslorelin acetate (Suprelorin) or a placebo (sodium chloride 0.9%; G3, n = 4) was inserted subcutaneously in the interscapular region. Estrus was monitored once daily by physical and sexual behavioral changes. Body development, vaginal cytology, and serum progesterone and estradiol 17β concentration were monitored weekly for the first 5 weeks, and then every 3 weeks throughout the treatment period. Radiographic examinations were performed monthly to determine the epiphyseal closure. Half of the deslorelin-treated bitches (G1: n = 2 and G2: n = 2) came into estrus during the 83-week observation period. All animals in the control group showed estrus between the 39th and 64th weeks of observation. Time to puberty averaged 82.7 ± 8.9 and 61.9 ± 9.7 weeks in the deslorelin-treated (G1 and G2) and the control bitches, respectively (P < 0.02). Both deslorelin implants (9.4 and 4.7 mg) can be used efficiently for the long-term prevention of estrus in prepubertal bitches; however, epiphyseal closure is clearly delayed which was without any clinical effect in the present study. PMID:25619808

  12. Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.

    PubMed

    Mäkitie, Outi; Savarirayan, Ravi; Bonafé, Luisa; Robertson, Stephen; Susic, Miki; Superti-Furga, Andrea; Cole, William G

    2003-10-15

    Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene result in a family of skeletal dysplasias, which comprise lethal (achondrogenesis type 1B and atelosteogenesis type 2) and non-lethal conditions (diastrophic dysplasia and recessive multiple epiphyseal dysplasia (rMED)). The most frequent mutation is R279W, which in a homozygous state results in rMED with bilateral clubfoot, MED, and "double layered" patella. We describe three patients with rMED caused by a previously unreported homozygous mutation in the DTDST gene. The three patients (from two families) were born to healthy, non-consanguineous parents. All developed signs of hip dysplasia in early childhood and two had episodes of recurrent patella dislocation. Two underwent bilateral total hip replacements at ages 13 and 14 years. The feet, external ears, and palate were normal. Stature was normal in all cases. Radiographs showed dysplastic femoral heads, mild generalized epiphyseal dysplasia, abnormal patella ossification, and normal hands and feet. Direct sequence analysis of genomic DNA demonstrated a homozygous 1984T > A (C653S) change in the DTDST gene in all patients. The clinically normal parents were heterozygous for the change. This is the first description of a homozygous C653S mutation of the DTDST gene. 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. PMID:12966518

  13. Cellular localization and expression of insulin-like growth factors (IGFs) and IGF binding proteins within the epiphyseal growth plate of the ovine fetus: possible functional implications.

    PubMed

    de los Rios, P; Hill, D J

    1999-04-01

    The insulin-like growth factors (IGFs) are important in the regulation of normal fetal musculoskeletal growth and development, and their actions have been shown to be modulated by IGF binding proteins (IGFBPs). Because the anatomical distribution of IGFBPs is likely to dictate IGF bioavailability, we determined the cellular distribution and expression of IGF-I, IGF-II, and IGFBP-1 to IGFBP-6 in epiphyseal growth plates of the fetal sheep, using immunocytochemistry and in situ hybridization. Little mRNA for IGF-I was detectable within the growth plates, but mRNA for IGF-II was abundant in germinal and proliferative chondrocytes, although absent from some differentiating chondrocytes and hypertrophic cells. Immunohistochemistry for IGF-I and IGF-II showed a presence of both peptides in all chondrocyte zones, including hypertrophic cells. Immunoreactive IGFBP-2 to -5 were localized within the germinal and proliferative zones of chondrocytes, but little immunoreactivity was present within the columns of differentiating cells. IGFBP immunoreactivity again appeared in hypertrophic chondrocytes. IGFBP mRNA in chondrocytes of the epiphyseal growth plate was below the detectable limit of in situ hybridization. However, low levels of mRNAs for IGFBP-2 to -6 were detected by the reverse transcriptase polymerase chain reaction. A co-localization of IGFBPs with IGF peptides in intact cartilage suggests that they may regulate IGF bioavailability and action locally. To test this hypothesis, monolayer cultures of chondrocytes were established from the proliferative zone of the growth plate, and were found to release immunoreactive IGF-II and to express mRNAs encoding IGFBP-2 to -6. Exogenous IGFBP-3, -4, and -5 had an inhibitory action on IGF-II-dependent DNA synthesis. IGFBP-2 had a biphasic effect, potentiating IGF-II action at low concentrations but inhibiting DNA synthesis at equimolar or greater concentrations relative to IGF-II. Long R3 IGF-I, which has a reduced binding

  14. Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.

    PubMed

    Mansouri, Maria; Kayserili, Hülya; Elalaoui, Siham Chafai; Nishimura, Gen; Iida, Aritoshi; Lyahyai, Jaber; Miyake, Noriko; Matsumoto, Naomichi; Sefiani, Abdelaziz; Ikegawa, Shiro

    2016-02-01

    Spondylo-meta-epiphyseal dysplasia (SMED), short limb-abnormal calcification type (SMED, SL-AC), is a very rare autosomal recessive disorder with various skeletal changes characterized by premature calcification leading to severe disproportionate short stature. Twenty-two patients have been reported until now, but only five mutations (four missense and one splice-site) in the conserved sequence encoding the tyrosine kinase domain of the DDR2 gene has been identified. We report here a novel DDR2 missense mutation, c.370C > T (p.Arg124Trp) in a Moroccan girl with SMED, SL-AC, identified by whole exome sequencing. Our study has expanded the mutational spectrum of this rare disease and it has shown that exome sequencing is a powerful and cost-effective tool for the diagnosis of clinically heterogeneous disorders such as SMED. PMID:26463668

  15. Effects of Melatonin and Epiphyseal Proteins on Fluoride-Induced Adverse Changes in Antioxidant Status of Heart, Liver, and Kidney of Rats

    PubMed Central

    Bharti, Vijay K.; Srivastava, R. S.; Kumar, H.; Bag, S.; Majumdar, A. C.; Singh, G.; Pandi-Perumal, S. R.; Brown, Gregory M.

    2014-01-01

    Several experimental and clinical reports indicated the oxidative stress-mediated adverse changes in vital organs of human and animal in fluoride (F) toxicity. Therefore, the present study was undertaken to evaluate the therapeutic effect of buffalo (Bubalus bubalis) epiphyseal (pineal) proteins (BEP) and melatonin (MEL) against F-induced oxidative stress in heart, liver, and kidney of experimental adult female rats. To accomplish this experimental objective, twenty-four adult female Wistar rats (123–143 g body weights) were divided into four groups, namely, control, F, F + BEP, and F + MEL and were administered sodium fluoride (NaF, 150 ppm elemental F in drinking water), MEL (10 mg/kg BW, i.p.), and BEP (100 µg/kg BW, i.p.) for 28 days. There were significantly (P < 0.05) high levels of lipid peroxidation and catalase and low levels of reduced glutathione, superoxide dismutase, glutathione reductase, and glutathione peroxidase in cardiac, hepatic, and renal tissues of F-treated rats. Administration of BEP and MEL in F-treated rats, however, significantly (P < 0.05) attenuated these adverse changes in all the target components of antioxidant defense system of cardiac, hepatic, and renal tissues. The present data suggest that F can induce oxidative stress in liver, heart, and kidney of female rats which may be a mechanism in F toxicity and these adverse effects can be ameliorated by buffalo (Bubalus bubalis) epiphyseal proteins and melatonin by upregulation of antioxidant defense system of heart, liver, and kidney of rats. PMID:24790596

  16. Effects of tiludronate on bone mass, structure, and turnover at the epiphyseal, primary, and secondary spongiosa in the proximal tibia of growing rats after sciatic neurectomy.

    PubMed

    Murakami, H; Nakamura, T; Tsurukami, H; Abe, M; Barbier, A; Suzuki, K

    1994-09-01

    To evaluate the effects of tiludronate on the mass, structure, and turnover of cancellous bone regions in immobilized rat tibiae, we performed a 4 week dosing experiment. The right hindlimbs of 84 Sprague-Dawley rats (5 weeks old) wee neurectomized or sham operated. Animals were assigned to seven groups (n = 12 each); group 1 was sham operated, and groups 2-7 were neurectomized. Groups 1 and 2 were given vehicle only (distilled water), and groups 3, 4, and 5 were given tiludronate orally at doses of 25, 50, and 100 mg/kg body weight (BW)/day, respectively, throughout the experimental period. Group 6 was given 100 mg/kg BW/day of the agent for the first 2 weeks only, and group 7 received vehicle only for the first 2 weeks and then 100 mg/kg BW/day of the agent for the last 2 weeks. After tetracycline labeling was performed, the right tibiae were removed from the animals and processed to yield undecalcified sections. Histomorphometry was performed in the epiphyseal, primary, and secondary spongiosa of the proximal tibia. In group 2, trabecular bone volume (BV/TV) and trabecular number (Tb.N) were significantly decreased in the primary and secondary spongiosae, but this did not occur in the epiphyseal spongiosa. Osteoid surface (OS/BS) was decreased and osteoclast surface (Oc.S/BS) was increased in the secondary spongiosa. Tiludronate increased BV/TV and Tb.N in the primary spongiosa by reducing the values for the parameters of osteoclast surface (Oc.S/BS) and osteoclast number (Oc.N/BS). Osteoid surface in this region was not decreased by the agent. In groups 4 and 5, tiludronate prevented bone loss in the secondary spongiosa by reducing both OS/BS and Oc.S/BS. In group 6, BV/TV in the primary spongiosa was maintained at the level of group 1, but Oc.S/BS and Oc.N/BS were elevated. In the secondary spongiosa, bone mass was preserved and the reduction in these parameters was maintained. In group 7, however, BV/TV was increased in the primary spongiosa as a result of a

  17. A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia.

    PubMed

    Miyake, Atsushi; Nishimura, Gen; Futami, Toru; Ohashi, Hirofumi; Chiba, Kazuhiro; Toyama, Yoshiaki; Furuichi, Tatsuya; Ikegawa, Shiro

    2008-01-01

    Diastrophic dysplasia sulfate transporter (DTDST) is required for synthesis of sulfated proteoglycans in cartilage, and its loss-of-function mutations result in recessively inherited chondrodysplasias. The 40 or so DTDST mutations reported to date cause a group of disorders termed the diastrophic dysplasia (DTD) group. The group ranges from the mildest recessive form of multiple epiphyseal dysplasia (r-MED) through the most common DTD to perinatally lethal atelosteogenesis type II and achondrogenesis 1B. Furthermore, the relationship between DTDST mutations, their sulfate transport function, and disease phenotypes has been described. Here we report a girl with DTDST mutations: a compound heterozygote of a novel p.T266I mutation and a recurrent p.DeltaV340 mutation commonly found in severe phenotypes of the DTD group. In infancy, the girl presented with skeletal manifestations reminiscent of Desbuquois dysplasia, another recessively inherited chondrodysplasia, the mutations of which have never been identified. Her phenotype evolved with age into an intermediate phenotype between r-MED and DTD. Considering her clinical phenotypes and known phenotypes of p.DeltaV340, p.T266I was predicted to be responsible for mild phenotypes of the DTD group. Our results further extend the phenotypic spectrum of DTDST mutations, adding Desbuquois dysplasia to the list of differential diagnosis of the DTD group. PMID:18553123

  18. Visualization of sulfur-containing components associated with proliferating chondrocytes from rat epiphyseal growth plate cartilage: Possible proteoglycan and collagen co-migration

    SciTech Connect

    Landis, W.J.; Hodgens, K.J. )

    1990-02-01

    Electron microscopy of epiphyseal growth plate cartilage from normal 4-5-week-old rats has revealed extensive fibrillar aggregates and globules in the pericellular spaces of proliferating chondrocytes. These cells contained small globules and diffusely coiled, fine filaments located within large, membrane-invested vacuoles. All such structures were observed after a variety of different tissue fixation regimes, including glutaraldehyde, osmium tetroxide, and potassium pyroantimonate. The fibrillar aggregates and globules were often overlapping and intermeshed and extended to 0.5 micron in length from their point of origin at cell membranes. Vacuoles were usually found at the periphery of cells, and some, by membrane fusion with the cell envelope, appeared contiguous with extracellular spaces wherein their contents could be discharged. Fine filaments and globules were occasionally observed in the Golgi complex and cisternae of endoplasmic reticulum of the chondrocytes. Further characterization of the cellular and pericellular components by electron microscopic radioautography, electron probe microanalysis, and electron spectroscopic imaging indicated the presence of sulfur, a result suggesting these aggregates, filaments, and globules in part represent proteoglycans in various stages of synthesis, secretion, and assembly. Additional radioautography utilizing 3H-proline implied that filament bundles are also composed of collagen, a result posing the possibility that this protein and the putative proteoglycans may co-migrate both intracellularly and within pericellular matrices. In extracellular matrices adjacent to cell lacunae, the fibrillar aggregates appeared in close association with typical collagen type II fibrils, an observation providing evidence for proteoglycan-collagen network formation in this region of the rat epiphysis.

  19. A new formula for assessing skeletal age in growing infants and children by measuring carpals and epiphyses of radio and ulna.

    PubMed

    De Luca, Stefano; Mangiulli, Tatiana; Merelli, Vera; Conforti, Federica; Velandia Palacio, Luz Andrea; Agostini, Susanna; Spinas, Enrico; Cameriere, Roberto

    2016-04-01

    The aim of this study is to develop a specific formula for the purpose of assessing skeletal age in a sample of Italian growing infants and children by measuring carpals and epiphyses of radio and ulna. A sample of 332 X-rays of left hand-wrist bones (130 boys and 202 girls), aged between 1 and 16 years, was analyzed retrospectively. Analysis of covariance (ANCOVA) was applied to study how sex affects the growth of the ratio Bo/Ca in the boys and girls groups. The regression model, describing age as a linear function of sex and the Bo/Ca ratio for the new Italian sample, yielded the following formula: Age = -1.7702 + 1.0088 g + 14.8166 (Bo/Ca). This model explained 83.5% of total variance (R(2) = 0.835). The median of the absolute values of residuals (observed age minus predicted age) was -0.38, with a quartile deviation of 2.01 and a standard error of estimate of 1.54. A second sample test of 204 Italian children (108 girls and 96 boys), aged between 1 and 16 years, was used to evaluate the accuracy of the specific regression model. A sample paired t-test was used to analyze the mean differences between the skeletal and chronological age. The mean error for girls is 0.00 and the estimated age is slightly underestimated in boys with a mean error of -0.30 years. The standard deviations are 0.70 years for girls and 0.78 years for boys. The obtained results indicate that there is a high relationship between estimated and chronological ages. PMID:26874435

  20. Forensic age estimation via 3-T magnetic resonance imaging of ossification of the proximal tibial and distal femoral epiphyses: Use of a T2-weighted fast spin-echo technique.

    PubMed

    Ekizoglu, Oguzhan; Hocaoglu, Elif; Inci, Ercan; Can, Ismail Ozgur; Aksoy, Sema; Kazimoglu, Cemal

    2016-03-01

    Radiation exposure during forensic age estimation is associated with ethical implications. It is important to prevent repetitive radiation exposure when conducting advanced ultrasonography (USG) and magnetic resonance imaging (MRI). The purpose of this study was to investigate the utility of 3.0-T MRI in determining the degree of ossification of the distal femoral and proximal tibial epiphyses in a group of Turkish population. We retrospectively evaluated coronal T2-weighted and turbo spin-echo sequences taken upon MRI of 503 patients (305 males, 198 females; age 10-30 years) using a five-stage method. Intra- and interobserver variations were very low. (Intraobserver reliability was κ=0.919 for the distal femoral epiphysis and κ=0.961 for the proximal tibial epiphysis, and interobserver reliability was κ=0.836 for the distal femoral epiphysis and κ=0.885 for the proximal tibial epiphysis.) Spearman's rank correlation analysis indicated a significant positive relationship between age and the extent of ossification of the distal femoral and proximal tibial epiphyses (p<0.001). Comparison of male and female data revealed significant between-gender differences in the ages at first attainment of stages 2, 3, and 4 ossifications of the distal femoral epiphysis and stage 1 and 4 ossifications of the proximal tibial epiphysis (p<0.05). The earliest ages at which ossification of stages 3, 4, and 5 was evident in the distal femoral epiphysis were 14, 17, and 22 years in males and 13, 16, and 21 years in females, respectively. Proximal tibial epiphysis of stages 3, 4, and 5 ossification was first noted at ages 14, 17, and 18 years in males and 13, 15, and 16 years in females, respectively. MRI of the distal femoral and proximal tibial epiphyses is an alternative, noninvasive, and reliable technique to estimate age. PMID:26797254

  1. Local Morphological Response of the Distal Femoral Articular–Epiphyseal Cartilage Complex of Young Foals to Surgical Stab Incision and Potential Relevance to Cartilage Injury and Repair in Children

    PubMed Central

    Hendrickson, Eli H.S.; Ekman, Stina; Carlson, Cathy S.; Dolvik, Nils I.

    2013-01-01

    Objective: Describe the local morphological response of the articular–epiphyseal cartilage complex to surgical stab incision in the distal femur of foals, with emphasis on the relationship between growth cartilage injury, enchondral ossification, and repair. Design: Nine foals were induced into general anesthesia at the age of 13 to 15 days. Four full-thickness stab incision defects were created in the cartilage on the lateral aspect of the lateral trochlear ridge of the left distal femur. Follow-up examination was carried out from 1 to 49 days postoperatively, including examination of intact bones, sawed slabs, and histological sections. Results: Incision defects filled with cells displaying fibroblast-, chondrocyte-, and osteoblast-like characteristics, potentially validating the rationale behind the drilling of stable juvenile osteochondritis dissecans lesions in children. Incisions induced necrosis within the cartilage on the margins at all depths of the defects. Sharp dissection may therefore be contraindicated in cartilage repair in young individuals. Incisions caused a focal delay in enchondral ossification in 2 foals, apparently related to the orientation of the incision defect relative to the direction of ossification. Defects became progressively surrounded by subchondral bone, in which granulation tissue containing clasts and foci of osteoblast-like cells was observed. Continued enchondral ossification was therefore likely to result in healing of uncomplicated defects to morphologically normal bone. Conclusions: Epiphyseal growth cartilage injury had the potential to exert a negative effect on enchondral ossification. Enchondral ossification exerted a beneficial effect on repair. This relationship warrants consideration in future studies of cartilage injury and repair within the articular–epiphyseal cartilage complex of all species. PMID:26069670

  2. An unfolded protein response is the initial cellular response to the expression of mutant matrilin-3 in a mouse model of multiple epiphyseal dysplasia

    PubMed Central

    Nundlall, Seema; Rajpar, M. Helen; Bell, Peter A.; Clowes, Christopher; Zeeff, Leo A. H.; Gardner, Benjamin; Thornton, David J.; Boot-Handford, Raymond P.

    2010-01-01

    Multiple epiphyseal dysplasia (MED) can result from mutations in matrilin-3, a structural protein of the cartilage extracellular matrix. We have previously shown that in a mouse model of MED the tibia growth plates were normal at birth but developed a progressive dysplasia characterised by the intracellular retention of mutant matrilin-3 and abnormal chondrocyte morphology. By 3 weeks of age, mutant mice displayed a significant decrease in chondrocyte proliferation and dysregulated apoptosis. The aim of this current study was to identify the initial post-natal stages of the disease. We confirmed that the disease phenotype is seen in rib and xiphoid cartilage and, like tibia growth plate cartilage is characterised by the intracellular retention of mutant matrilin-3. Gene expression profiling showed a significant activation of classical unfolded protein response (UPR) genes in mutant chondrocytes at 5 days of age, which was still maintained by 21 days of age. Interestingly, we also noted the upregulation of arginine-rich, mutated in early stage of tumours (ARMET) and cysteine-rich with EGF-like domain protein 2 (CRELD2) are two genes that have only recently been implicated in the UPR. This endoplasmic reticulum (ER) stress and UPR did not lead to increased chondrocyte apoptosis in mutant cartilage by 5 days of age. In an attempt to alleviate ER stress, mutant mice were fed with a chemical chaperone, 4-sodium phenylbutyrate (SPB). SPB at the dosage used had no effect on chaperone expression at 5 days of age but modestly decreased levels of chaperone proteins at 3 weeks. However, this did not lead to increased secretion of mutant matrilin-3 and in the long term did not improve the disease phenotype. We performed similar studies with a mouse model of Schmid metaphyseal chondrodysplasia, but again this treatment did not improve the phenotype. Electronic supplementary material The online version of this article (doi:10.1007/s12192-010-0193-y) contains supplementary

  3. A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking

    PubMed Central

    2014-01-01

    Background The rare autosomal genetic disorder, Spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL), is reported to be caused by missense or splice site mutations in the human discoidin domain receptor 2 (DDR2) gene. Previously our group has established that trafficking defects and loss of ligand binding are the underlying cellular mechanisms of several SMED-SL causing mutations. Here we report the clinical characteristics of two siblings of consanguineous marriage with suspected SMED-SL and identification of a novel disease-causing mutation in the DDR2 gene. Methods Clinical evaluation and radiography were performed to evaluate the patients. All the coding exons and splice sites of the DDR2 gene were sequenced by Sanger sequencing. Subcellular localization of the mutated DDR2 protein was determined by confocal microscopy, deglycosylation assay and Western blotting. DDR2 activity was measured by collagen activation and Western analysis. Results In addition to the typical features of SMED-SL, one of the patients has an eye phenotype including visual impairment due to optic atrophy. DNA sequencing revealed a novel homozygous dinucleotide deletion mutation (c.2468_2469delCT) on exon 18 of the DDR2 gene in both patients. The mutation resulted in a frameshift leading to an amino acid change at position S823 and a predicted premature termination of translation (p.S823Cfs*2). Subcellular localization of the mutant protein was analyzed in mammalian cell lines, and it was found to be largely retained in the endoplasmic reticulum (ER), which was further supported by its N-glycosylation profile. In keeping with its cellular mis-localization, the mutant protein was found to be deficient in collagen-induced receptor activation, suggesting protein trafficking defects as the major cellular mechanism underlying the loss of DDR2 function in our patients. Conclusions Our results indicate that the novel mutation results in defective trafficking

  4. Acute epiphyseal osteomyelitis in children

    SciTech Connect

    Rosenbaum, D.M.; Blumhagen, J.D.

    1985-07-01

    Nine children over 20 months of age had acute osteomyelitis of the epiphysis of a long bone. The clinical features varied, but all of the patients had pain at the infected site and an elevated erythrocyte sedimentation rate. The distal femur was involved in seven cases, the proximal tibian in two, and the proximal humerus in one. In two patients there was a contiguous metaphyseal lesion, while the other seven patients (eight sites) had lesions limited to the epiphysis. Bone scintigraphy clearly identified the infected sites in all seven patients in whom it was performed, and allowed an early diagnosis in four cases. Radiographs showed a lytic lesion of the epiphysis that corresponded to the scintigraphic findings in all cases. The epiphysis of the child should be recognized as another site of hematogenous osteomyelitis.

  5. Contact Stress and Kinematic Analysis of All-Epiphyseal and Over-the-Top Pediatric Reconstruction Techniques for the Anterior Cruciate Ligament

    PubMed Central

    McCarthy, Moira M.; Tucker, Scott; Nguyen, Joseph T.; Green, Daniel W.; Imhauser, Carl W.; Cordasco, Frank A.

    2014-01-01

    Background Anterior cruciate ligament (ACL) injuries are an increasingly recognized problem in the pediatric population. Unfortunately, outcomes with conservative treatment are extremely poor. Furthermore, adult reconstruction techniques may be inappropriate to treat skeletally immature patients due to the risk of physeal complications. “Physeal-sparing” reconstruction techniques exist but their ability to restore knee stability and contact mechanics is not well understood. Purpose (1) To assess the ability of the all-epiphyseal (AE) and over-the-top (OT) reconstructions to restore knee kinematics; (2) to assess whether these reconstructions decrease the high posterior contact stresses seen with ACL deficiency; (3) to determine whether the AE or OT produce abnormal tibiofemoral contact stresses. Hypothesis The AE reconstruction will restore contact mechanics and kinematics similarly to that of the ACL intact knee. Methods Ten fresh-frozen human cadaveric knees were tested using a robotic manipulator. Tibiofemoral motions were recorded with the ACL intact, after sectioning the ACL, and after both reconstructions in each of the 10 specimens. The AE utilized an all-inside technique with tunnels exclusively within the epiphysis and fixed with suspensory cortical fixation devices. The OT had a central and vertical tibial tunnel with an over-the-top femur position and was fixed with staples and posts on both ends. Anterior stability was assessed with 134N anterior force at 0, 15, 30, 60, and 90° of knee flexion. Rotational stability was assessed with combined 8 Nm and 4 Nm of abduction and internal rotation, respectively, at 5, 15, and 30° of knee flexion. Results Both reconstruction techniques offloaded the posterior aspect of the tibial plateau compared to the ACL deficient knee in response to both anterior loads and combined moments as demonstrated by reduced contact stresses in this region at all flexion angles. Compared to the ACL intact condition, both the AE

  6. Measurements of developing teeth, and carpals and epiphyses of the ulna and radius for assessing new cut-offs at the age thresholds of 10, 11, 12, 13 and 14 years.

    PubMed

    Cameriere, R; De Luca, S; Cingolani, M; Ferrante, L

    2015-08-01

    The minimum age of criminal responsibility is the youngest age at which children may be held liable for infringements of penal laws. New cut-offs at the age thresholds of 10, 11, 12, 13 and 14 years were determined by applying three different methods: measurement of open apices in tooth roots (T); the ratio between the total area of carpal bones and epiphyses of the ulna and radius (HW); and the combined method (THW). The sample consisted of 291 Italian children (152 boys, 139 girls), aged between 5 and 15 years. The sensitivity and specificity were established. As regards THW, specificity reached the maximum of 95% in boys aged 10, and the minimum of 87% in boys aged 11. The best score of the Positive Predictive Value (PPV) was obtained in boys at 10 years with the THW method and the worst in girls of 12 with the HW method. PMID:26165659

  7. Pseudoachondroplasia and Multiple Epiphyseal Dysplasia: A 7-Year Comprehensive Analysis of the Known Disease Genes Identify Novel and Recurrent Mutations and Provides an Accurate Assessment of Their Relative Contribution

    PubMed Central

    Jackson, Gail C; Mittaz-Crettol, Laureane; Taylor, Jacqueline A; Mortier, Geert R; Spranger, Juergen; Zabel, Bernhard; Le Merrer, Martine; Cormier-Daire, Valerie; Hall, Christine M; Offiah, Amaka; Wright, Michael J; Savarirayan, Ravi; Nishimura, Gen; Ramsden, Simon C; Elles, Rob; Bonafe, Luisa; Superti-Furga, Andrea; Unger, Sheila; Zankl, Andreas; Briggs, Michael D

    2012-01-01

    Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are relatively common skeletal dysplasias resulting in short-limbed dwarfism, joint pain, and stiffness. PSACH and the largest proportion of autosomal dominant MED (AD-MED) results from mutations in cartilage oligomeric matrix protein (COMP); however, AD-MED is genetically heterogenous and can also result from mutations in matrilin-3 (MATN3) and type IX collagen (COL9A1, COL9A2, and COL9A3). In contrast, autosomal recessive MED (rMED) appears to result exclusively from mutations in sulphate transporter solute carrier family 26 (SLC26A2). The diagnosis of PSACH and MED can be difficult for the nonexpert due to various complications and similarities with other related diseases and often mutation analysis is requested to either confirm or exclude the diagnosis. Since 2003, the European Skeletal Dysplasia Network (ESDN) has used an on-line review system to efficiently diagnose cases referred to the network prior to mutation analysis. In this study, we present the molecular findings in 130 patients referred to ESDN, which includes the identification of novel and recurrent mutations in over 100 patients. Furthermore, this study provides the first indication of the relative contribution of each gene and confirms that they account for the majority of PSACH and MED. Hum Mutat 33:144–157, 2012. © 2011 Wiley Periodicals, Inc. PMID:21922596

  8. Intermittent internal fixation with a locking plate to preserve epiphyseal growth function during limb-salvage surgery in a child with osteosarcoma of the distal femur: a case report.

    PubMed

    Mei, Jiong; Ni, Ming; Jia, Guang-Yao; Chen, Yan-Xi; Zhu, Xiao-Zhong

    2015-05-01

    Limb shortening is a problem associated with surgery for osteosarcoma of the lower extremity in adolescents, as the tumors frequently occur near the epiphysis. Herein we report the use of a less invasive stabilization system (LISS) and an intermittent fixation method to preserve the growth function of epiphysis in an 11-year-old patient with an osteosarcoma of the distal femur.The 11-year-old male presented with left knee enlargement and pain for 2 weeks, and magnetic resonance imaging (MRI) and biopsy were consistent with osteosarcoma of the left distal femur. After preoperative chemotherapy, en bloc tumor resection was performed with margins based on MRI findings preserving the epiphyseal growth plate, the tumor cavity was filled with inactivated bone and bone cement, and a LISS was used to stabilize the femur. Aggressive postoperative chemotherapy was given. Approximately 105 weeks after surgery radiography showed that the distal end of the plate had moved superior to the epiphysis along with bone growth. Locking screws were placed in the distal part of the LISS plate to stabilize the re-implanted bone, and external fixation was not needed.The patient was able to walk with the crutches 1 week postoperatively, and bear weight on the extremity 6 weeks postoperatively. At 6 years after surgery, the patient's height had increased 52 cm, shortening of the affected limb was only 1 cm, and the circumference of the affected limb was 2 cm smaller than that of the contralateral limb. There was no significant discomfort in the affected limb, and there was no gait abnormality. The patient could jump and run, and could participate in sports including basketball and badminton to the same degree as his peers.In summary, the novel method of bone reconstruction and fixation provided good results in a child with an osteosarcoma of the distal femur. This fixation method preserves the osteogenic function of the epiphysis and restored bone integrity simultaneously, and

  9. Genetics Home Reference: multiple epiphyseal dysplasia

    MedlinePlus

    ... instructions for making a protein called type IX collagen. Collagens are a family of proteins that strengthen and ... mutations in these genes may cause type IX collagen to accumulate inside the cell or interact abnormally ...

  10. Spaceflight and age affect tibial epiphyseal growth plate histomorphometry

    NASA Technical Reports Server (NTRS)

    Montufar-Solis, Dina; Duke, Pauline J.; Durnova, G.

    1992-01-01

    Growth plate histomorphometry of rats flown aboard the Soviet biosatellite Cosmos 2044, a 14-day spaceflight, was compared with that of control groups. In growth plates of flight animals, there was a significant increase in cell number per column and height of the proliferative zone and a reduction in height and cell number in the hypertrophy/calcification zone. No significant differences were found in matrix organization at the ultrastructural level of flight animals, indicating that although spacefligfht continues to affect bone growth of 15-wk-old rats, extracellular matrix is not altered in the same manner as seen previously in younger animals. All groups showed growth plate characteristics attributed to aging: lack of calcification zone, reduced hypertrophy zone, and unraveling of collagen fibrils. Tail-suspended controls did not differ from other controls in any of the parameters measured. The results suggest that growth plates of older rats are less responsive to unloading by spaceflight or suspension than those of younger rats and provide new evidence about the modifying effect of spaceflight on the growth plate.

  11. Displaced epiphyseal plate of the terminal phalanx in a child.

    PubMed

    Michelinakis, E; Vourexaki, H

    1980-02-01

    A case of mallet finger in a child is described. The epiphysis of the terminal phalanx was displaced dorsally with the extensor tendon attached to it, and was first diagnosed two weeks after injury. The treatment was by open reduction. Radiograph three years later showed that a satisfactory position of the epiphysis and normal growth of the terminal phalanx had occurred. PMID:7364328

  12. Thompson and Hamilton type IV Freiberg's disease with involvement of multiple epiphyses of both feet.

    PubMed

    Lui, Tun Hing

    2015-01-01

    A 17-year-old boy reported left second and third toe pain after axial loading injury to his left foot. Radiographs showed collapse of the second metatarsal heads and epiphysial irregularities of the fifth metatarsal heads and the condyle of the proximal phalanx of the hallux of both feet. The patient was diagnosed to have Thompson and Hamilton type IV Freiberg's disease. He was screened for epiphysial dysplasia of the other sites. He had on and off bilateral hip and knee pain. Radiographs showed bilateral symmetrical epiphysial abnormalities with morphological change as focal concavity in bilateral femoral heads and fragmentation of the patellar articular surface with preservation of the patellofemoral joint space. PMID:25721826

  13. Epiphyseal chondrocyte secondary ossification centers require thyroid hormone activation of Indian hedgehog and osterix signaling.

    PubMed

    Xing, Weirong; Cheng, Shaohong; Wergedal, Jon; Mohan, Subburaman

    2014-10-01

    Thyroid hormones (THs) are known to regulate endochondral ossification during skeletal development via acting directly in chondrocytes and osteoblasts. In this study, we focused on TH effects on the secondary ossification center (SOC) because the time of appearance of SOCs in several species coincides with the time when peak levels of TH are attained. Accordingly, micro-computed tomography (µCT) evaluation of femurs and tibias at day 21 in TH-deficient and control mice revealed that endochondral ossification of SOCs is severely compromised owing to TH deficiency and that TH treatment for 10 days completely rescued this phenotype. Staining of cartilage and bone in the epiphysis revealed that whereas all of the cartilage is converted into bone in the prepubertal control mice, this conversion failed to occur in the TH-deficient mice. Immunohistochemistry studies revealed that TH treatment of thyroid stimulating hormone receptor mutant (Tshr(-/-) ) mice induced expression of Indian hedgehog (Ihh) and Osx in type 2 collagen (Col2)-expressing chondrocytes in the SOC at day 7, which subsequently differentiate into type 10 collagen (Col10)/osteocalcin-expressing chondro/osteoblasts at day 10. Consistent with these data, treatment of tibia cultures from 3-day-old mice with 10 ng/mL TH increased expression of Osx, Col10, alkaline phosphatase (ALP), and osteocalcin in the epiphysis by sixfold to 60-fold. Furthermore, knockdown of the TH-induced increase in Osx expression using lentiviral small hairpin RNA (shRNA) significantly blocked TH-induced ALP and osteocalcin expression in chondrocytes. Treatment of chondrogenic cells with an Ihh inhibitor abolished chondro/osteoblast differentiation and SOC formation. Our findings indicate that TH regulates the SOC initiation and progression via differentiating chondrocytes into bone matrix-producing osteoblasts by stimulating Ihh and Osx expression in chondrocytes. PMID:24753031

  14. Patterns of proteoglycan degradation by a neutral protease from human growth-plate epiphyseal cartilage

    SciTech Connect

    Ehrlich, M.G.; Armstrong, A.L.; Neuman, R.G.; Davis, M.W.; Mankin, H.J.

    1982-12-01

    The hypothesis is widely held that proteolytic degradation of proteoglycans in the lower hypertrophic zone of the growth plate may be involved in the initiation of mineralization in the zone of provisional calcification. However, a neutral protease that is responsible for the degradation of proteoglycans in the growth plate has not been identified, isolated, and characterized. In the work reported here, neutral protease activity in the growth plate is demonstrated for the first time, and some of the properties of the enzyme are described. Proteoglycans subunits were prepared from bovine nasal cartilage and calf costal cartilage by equilibrium density-gradient centrifugation under dissociative conditions. The proteoglycan subunits were labeled with /sup 14/C-formaldehyde. Homogenates from human growth plates were examined for neutral protease activity using the proteoglycan subunits as substrates. Following incubation of the proteoglycan subunits with growth-plate homogenates at pH 5.3 and at pH 7.5 in the presence and absence of ten-millimolar magnesium chloride and calcium chloride, the digestion products were examined by gel chromatography on Sepharose-2B and 6B columns. Column eluants containing proteoglycan-subunit degradation products were monitored for uronic acid, hexose, and radio-activity. Maximum extensive degradation of proteoglycan subunits occurred at pH 7.5 in the presence of ten-millimolar magnesium chloride and calcium chloride.

  15. Histomorphometric and electron microscopic analyses of tibial epiphyseal plates from Cosmos 1887 rats

    NASA Technical Reports Server (NTRS)

    Duke, P. J.; Durnova, G.; Montufar-Solis, D.

    1990-01-01

    Previous studies have shown that the changes seen in the bones of growing rats exposed to microgravity are due in part to changes that occur in the growth plate during spaceflight. In this study, growth plates of rats flown aboard Cosmos 1887 (12.5-day flight plus 53.5-h recovery at 1 g) were analyzed using light and electron microscopy and computerized planimetry. The proliferative zone of flight animals was found to be significantly (P less than or equal to 0.01) larger than that of controls, while the reserve and hypertrophic/calcification zones were significantly reduced. Flight animals also had more cells per column in the proliferative zone than did controls and less in the hypertrophic/calcification region. The total number of cells, however, was significantly greater in flight animals. No difference was found in perimeter or in shape factor, but area was significantly less in flight animals. Electron microscopy showed that collagen fibrils in flight animals were wider than in controls. Since the time required for a cell to cycle through the growth plate is 2-3 days at 1 g, the results reported here represent both the effects of exposure to microgravity and the initial stages of recovery from that exposure.

  16. The locomotion of Babakotia radofilai inferred from epiphyseal and diaphyseal morphology of the humerus and femur.

    PubMed

    Marchi, Damiano; Ruff, Christopher B; Capobianco, Alessio; Rafferty, Katherine L; Habib, Michael B; Patel, Biren A

    2016-09-01

    Palaeopropithecids, or "sloth lemurs," are a diverse clade of large-bodied Malagasy subfossil primates characterized by their inferred suspensory positional behavior. The most recently discovered genus of the palaeopropithecids is Babakotia, and it has been described as more arboreal than Mesopropithecus, but less than Palaeopropithecus. In this article, the within-bone and between-bones articular and cross-sectional diaphyseal proportions of the humerus and femur of Babakotia were compared to extant lemurs, Mesopropithecus and Palaeopropithecus in order to further understand its arboreal adaptations. Additionally, a sample of apes and sloths (Choloepus and Bradypus) are included as functional outgroups composed of suspensory adapted primates and non-primates. Results show that Babakotia and Mesopropithecus both have high humeral/femoral shaft strength proportions, similar to extant great apes and sloths and indicative of forelimb suspensory behavior, with Babakotia more extreme in this regard. All three subfossil taxa have relatively large femoral heads, also associated with suspension in modern taxa. However, Babakotia and Mesopropithecus (but not Palaeopropithecus) have relatively small femoral head surface area to shaft strength proportions suggesting that hind-limb positioning in these taxa during climbing and other behaviors was different than in extant great apes, involving less mobility. Knee and humeral articular dimensions relative to shaft strengths are small in Babakotia and Mesopropithecus, similar to those found in modern sloths and divergent from those in extant great apes and lemurs, suggesting more sloth-like use of these joints during locomotion. Mesopropithecus and Babakotia are more similar to Choloepus in humerofemoral head and length proportions while Palaeopropithecus is more similar to Bradypus. These results provide further evidence of the suspensory adaptations of Babakotia and further highlight similarities to both extant suspensory primates and non-primate slow arboreal climbers and hangers. J. Morphol. 277:1199-1218, 2016. © 2016 Wiley Periodicals, Inc. PMID:27324923

  17. Epiphyseal chondrocyte secondary ossification centers require thyroid hormone activation of Indian hedgehog and osterix signaling

    PubMed Central

    Xing, Weirong; Cheng, Shaohong; Wergedal, Jon; Mohan, Subburaman

    2015-01-01

    Thyroid hormones (TH) are known to regulate endochondral ossification during skeletal development via acting directly in chondrocytes and osteoblasts. In this study, we focused on TH effects on the secondary ossification center (SOC), since the time of appearance of SOCs in several species coincides with the time when peak levels of TH are attained. Accordingly, μCT evaluation of femurs and tibias at day 21 in TH-deficient and control mice revealed that endochondral ossification of SOCs is severely compromised due to TH deficiency and that TH treatment for 10 days completely rescued this phenotype. Staining of cartilage and bone in the epiphysis revealed that while all of the cartilage is converted into bone in the prepubertal control mice, this conversion failed to occur in the TH-deficient mice. Immunohistochemistry studies revealed that TH treatment of Tshr−/− mice induced expression of Ihh and Osx in Col2 expressing chondrocytes in the SOC at day 7 which subsequently differentiate into Col10/osteocalcin expressing chondro-osteoblasts at day 10. Consistent with these data, treatment of tibia cultures from 3-day old mice with10 ng/ml TH increased expression of Osx, Col10, ALP and osteocalcin in the epiphysis by 6–60 fold. Furthermore, knockdown of the TH-induced increase in Osx expression using lentiviral shRNA significantly blocked TH-induced ALP and osteocalcin expression in chondrocytes. Treatment of chondrogenic cells with an Ihh inhibitor abolished chondro-osteoblast differentiation and SOC formation. Our findings indicate that TH regulates the SOC initiation and progression via differentiating chondrocytes into bone matrix producing osteoblasts by stimulating Ihh and Osx expression in chondrocytes. PMID:24753031

  18. An artifacts removal post-processing for epiphyseal region-of-interest (EROI) localization in automated bone age assessment (BAA)

    PubMed Central

    2011-01-01

    Background Segmentation is the most crucial part in the computer-aided bone age assessment. A well-known type of segmentation performed in the system is adaptive segmentation. While providing better result than global thresholding method, the adaptive segmentation produces a lot of unwanted noise that could affect the latter process of epiphysis extraction. Methods A proposed method with anisotropic diffusion as pre-processing and a novel Bounded Area Elimination (BAE) post-processing algorithm to improve the algorithm of ossification site localization technique are designed with the intent of improving the adaptive segmentation result and the region-of interest (ROI) localization accuracy. Results The results are then evaluated by quantitative analysis and qualitative analysis using texture feature evaluation. The result indicates that the image homogeneity after anisotropic diffusion has improved averagely on each age group for 17.59%. Results of experiments showed that the smoothness has been improved averagely 35% after BAE algorithm and the improvement of ROI localization has improved for averagely 8.19%. The MSSIM has improved averagely 10.49% after performing the BAE algorithm on the adaptive segmented hand radiograph. Conclusions The result indicated that hand radiographs which have undergone anisotropic diffusion have greatly reduced the noise in the segmented image and the result as well indicated that the BAE algorithm proposed is capable of removing the artifacts generated in adaptive segmentation. PMID:21952080

  19. A geometric morphometrics comparative analysis of Neandertal humeri (epiphyses-fused) from the El Sidrón cave site (Asturias, Spain).

    PubMed

    Rosas, Antonio; Pérez-Criado, Laura; Bastir, Markus; Estalrrich, Almudena; Huguet, Rosa; García-Tabernero, Antonio; Pastor, Juan Francisco; de la Rasilla, Marco

    2015-05-01

    A new collection of 49,000 year old Neandertal fossil humeri from the El Sidrón cave site (Asturias, Spain) is presented. A total of 49 humeral remains were recovered, representing 10 left and 8 right humeri from adults, adolescents, and a juvenile (not included in the analyses). 3D geometric morphometric (GM) methods as well as classic anthropological variables were employed to conduct a broad comparative analysis by means of mean centroid size and shape comparisons, principal components analysis, and cluster studies. Due to the fragmentary nature of the fossils, comparisons were organized in independent analyses according to different humeral portions: distal epiphysis, diaphysis, proximal epiphysis, and the complete humerus. From a multivariate viewpoint, 3D-GM analyses revealed major differences among taxonomic groups, supporting the value of the humerus in systematic classification. Notably, the Australopithecus anamensis (KP-271) and Homo ergaster Nariokotome (KNM-WT 15000) distal humerus consistently clusters close to those of modern humans, which may imply a primitive condition for Homo sapiens morphology. Australopithecus specimens show a high degree of dispersion in the morphospace. The El Sidrón sample perfectly fits into the classic Neandertal pattern, previously described as having a relatively wide olecranon fossa, as well as thin lateral and medial distodorsal pillars. These characteristics were also typical of the Sima de los Huesos (Atapuerca) sample, African mid-Pleistocene Bodo specimen, and Lower Pleistocene TD6-Atapuerca remains and may be considered as a derived state. Finally, we hypothesize that most of the features thought to be different between Neandertals and modern humans might be associated with structural differences in the pectoral girdle and shoulder joint. PMID:25819346

  20. A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia.

    PubMed

    Zechi-Ceide, Roseli Maria; Moura, Priscila Padilha; Raskin, Salmo; Richieri-Costa, Antonio; Guion-Almeida, Maria Leine

    2013-08-01

    Mutations in solute carrier family 26 (sulfate transporter), member 2 (SLC26A2) gene result in a spectrum of autosomal recessive chondrodysplasias that range from the mildest recessive form of multiple epiphysial dysplasia (rMED) through the most common diastrophic dysplasia (DTD) to lethal atelosteogenesis type II and achondrogenesis IB. The clinical variability has been ascribed to quantitative effect of mutations of the sulfate transporter activity. Here we describe two Brazilian sisters, born to healthy and non consanguineous parents, with Robin sequence, mild shortening of upper and lower limbs, brachymetacarpalia/tarsalia, additional and accelerated carpal ossification, marked genu valgum, and multiple epiphysial dysplasia. This phenotype was intermediate between DTD and rMED, and both girls have a compound heterozygous mutations for the SLC26A2, a Finnish founder mutation (c.-26 + 2T>C), and R279W. This combination of mutations has been observed in individuals with different phenotypes, including DTD, DTD variant, and rMED. The distinct phenotype of our cases reinforces the hypothesis that other factors may be influencing the phenotype as previously suggested. PMID:23840040

  1. Repopulation of laser-perforated chondroepiphyseal matrix with xenogeneic chondrocytes: An experimental model

    SciTech Connect

    Caruso, E.M.; Lewandrowski, K.U.; Ohlendorf, C.; Tomford, W.W.; Zaleske, D.J.

    1996-01-01

    Growth of chondrocytes into a xenogeneic chondroepiphyseal matrix was investigated in an in vitro experimental model by combining viable calf chondrocytes with chick epiphyseal matrix devoid of viable chondrocytes. The chondrocytes were harvested from the wrist joints of newborn calves and cultured for 2 days. The epiphyses were harvested from the distal femurs and the proximal tibias of fetal chicks after development was arrested at 17 days by freezing. The epiphyseal specimens were prepared in four ways. These included femoral and tibial epiphyses without holes and femoral and tibial epiphyses with holes made by a laser. These epiphyseal specimens were co-cultured with calf chondrocytes for various periods. After digestion of the epiphyseal matrix, viable chondrocytes were counted in suspension. Chondrocyte division in the matrix was assessed by [{sup 3}H]thymidine incorporation. The growth of calf chondrocytes into the xenogeneic chick matrix was evaluated by fluorescence microscopy on fresh thick epiphyseal sections. The percentage of viable chondrocytes in the xenogeneic epiphyseal matrix increased with culture time to a maximum at day 21. The addition of laser-drilled holes was found to extend a plateau of chondrocyte viability until day 29. A decrease in cell viability was detected at later observation points. This study demonstrates that xenogeneic matrix may serve as a morphogenetic scaffold for chondrocytic growth. 22 refs., 3 figs.

  2. [The "candlestick" technique for the correction of certain types of congenital metacarpal synotosis].

    PubMed

    Foucher, G; Medina, J; Bollecker, V; Lorea, P

    2002-10-01

    Metacarpal synostosis is a rare congenital hand malformation requiring only occasionally a surgical correction. However in case of divergent epiphyses there is a progressive accentuation of the deformity. In the "Y" type of symmetrical synostosis, the authors propose a trapezoidal osteotomy with upside down relocation allowing realignement of the epiphyses without distant bone donor site. PMID:12491705

  3. Orthopedic radiology

    SciTech Connect

    Renton, P.

    1989-01-01

    The book is divided into seven major sections on Decrease in bone density, Osteosclerosis, Localized lesions in bone, Lesions affecting the epiphyses, Abnormalities in the region of the metaphysis, Periosteal reactions, and Abnormalities in size and modelling of bone.

  4. Computerized bone analysis of hand radiographs

    NASA Astrophysics Data System (ADS)

    Pietka, Ewa; McNitt-Gray, Michael F.; Hall, Theodore R.; Huang, H. K.

    1992-06-01

    A computerized approach to the problem of skeletal maturity is presented. The analysis of a computed radiography (CR) hand image results in obtaining features, that can be used to assess the skeletal age of pediatric patients. It is performed on a standard left hand radiograph. First, epiphyseal regions of interest (EROI) are located. Then, within each EROI the distals, middles, and proximals are separated. This serves as a basis to locate the extremities of epiphyses and metaphyses. Next, the diameters of epiphyses and metaphyses are calculated. Finally, an epiphyseal diameter and metaphyseal diameter ratio is calculated. A pilot study indicated that these features are sensitive to the changes of the anatomical structure of a growing hand and can be used in the skeletal age assessment.

  5. Effects of factors of prolonged space flight on conditions of tortoise skeleton

    NASA Technical Reports Server (NTRS)

    Stupakon, G. P.; Volozhin, A. I.; Korzhenyants, V. A.; Yagodovskiy, V. S.; Polyakov, A. N.; Korolev, V. V.; Elivanov, V. A.

    1980-01-01

    After a 60-90 day space flight mild osteoporosis developed in the epiphyses and metaphyses of long tubular bones of tortoises, which was not attributed to reduced mineral saturation of the preserved bone tissue microstructures. The diminished strength of the cancellous bone of the epiphyses in tortoises after space flight was due to the reduced properties of its structure. The strength of the compact substance did not change under the effect of weightlessness.

  6. [Symptomatic calcification in the newborn. Phenocopies of chondrodysplasia punctata].

    PubMed

    Leicher-Düber, A; Schumacher, R; Spranger, J

    1990-04-01

    Stippled epiphyses occur in the new-born and young infant in the different hereditary forms of chondrodysplasia punctata. Symptomatic stippling has been described also in association with chromosomal anomalies, gangliosidosis and drug induced embryopathies. We present patients with Cumarin-embryopathy (2), fetal alcohol syndrome (1), Zellweger-syndrome (2) and chromosomal anomaly 16 (1) and discuss the typical roentgenographic features, distribution and differential diagnosis of epiphyseal stippling. PMID:2160110

  7. The development of centres of ossification of bones forming elbow joints in young swine.

    PubMed Central

    Visco, D M; Hill, M A; Van Sickle, D C; Kincaid, S A

    1990-01-01

    Epiphyseal centres of ossification in the bones forming the elbow joints of pigs between one day and 15 weeks of age were examined radiographically, macroscopically, mesoscopically and microscopically. Thoracic limbs from 39 pigs were perfused with India ink or silicone rubber injection compound and the bones were dissected free of soft tissues. The humerus, ulna and radius were fixed in formalin or ethyl alcohol and then cleared by the modified Spalteholz technique. Bones were radiographed, examined grossly, and then cut into slabs for mesoscopical evaluation. Foci considered to be calcifying within cartilaginous anlage were selected for microscopical examination. It was concluded that the epiphyseal centre of ossification develops at different times in different sites in the bones forming the elbow joint. Centres of ossification are initiated when foci of chondrocytes adjacent to one side of a cartilage canal undergo hypertrophy and the inter-territorial matrix becomes calcified. Osteogenesis then proceeds in the calcified focus, presumably with osteoprogenitor cells that originate within the cartilage canals. Subsequently, each epiphyseal centre of ossification enlarges by one of two methods. Firstly, the layer of cartilage adjacent to the centre undergoes endochondral ossification, thus allowing for the circumferential growth of the epiphyseal centre of ossification. Secondly, foci of calcification develop adjacent to the ends of cartilage canals near the epiphyseal centre of ossification and eventually the focus of calcification coalesces with the developing epiphyseal centre of ossification, thus establishing a new ossification front. Endochondral ossification continues at the periphery of the mass of bone. Mesoscopical examination is more useful than radiographical evaluation for identifying small foci of calcification which precede epiphyseal centres of ossification. Images Fig. 1 Fig. 2 Fig. 3 Fig. 4 Fig. 5 Fig. 6 Fig. 7 Fig. 8 PMID:2081708

  8. Osteochondrosis Can Lead to Formation of Pseudocysts and True Cysts in the Subchondral Bone of Horses.

    PubMed

    Olstad, K; Østevik, L; Carlson, C S; Ekman, S

    2015-09-01

    Osteochondrosis arises as a result of focal failure of the blood supply to growth cartilage. The current aim was to examine the pathogenesis of pseudocysts and true cysts in subchondral bone following failure of the blood supply to the articular-epiphyseal cartilage complex in horses. Cases were recruited based on identification of lesions (n = 17) that were considered likely to progress to or to represent pseudocysts or true cysts in epiphyseal bone in histological sections and included 10 horses ranging in age from 48 days to 5 years old. Cases comprised 3 warmbloods, 3 Standardbreds, 1 Quarter horse and 1 Arabian with spontaneous lesions and 2 Fjord ponies with experimentally induced lesions. Seven lesions consisted of areas of ischemic chondronecrosis and were compatible with pseudocysts. Two lesions were located at intermediate depth in epiphyseal growth cartilage, 2 lesions were located in the ossification front, 2 lesions were located in epiphyseal bone and 1 lesion was located in the metaphyseal growth plate (physis). Ten lesions contained dilated blood vessels and were compatible with true cysts. In 2 lesions the dilated blood vessels were located within the lumina of failed cartilage canals. In the 8 remaining lesions areas of ischemic chondronecrosis were associated with granulation tissue in the subjacent bone and dilated vessels were located within this granulation tissue. Failure of the blood supply and ischemic chondronecrosis can lead to formation of pseudocysts or dilatation of blood vessels and formation of true cysts in the epiphyseal bone of horses. PMID:25428408

  9. Bulbous epiphysis and popcorn calcification as related to growth plate differentiation in osteogenesis imperfecta

    PubMed Central

    Brizola, Evelise; McCarthy, Edward; Shapiro, Jay Robert

    2015-01-01

    Summary Background Osteogenesis Imperfecta (OI) is an heritable systemic disorder of connective tissue due to different sequence variants in genes affecting both the synthesis of type I collagen and osteoblast function. Dominant and recessive inheritance is recognized. Approximately 90% of the OI cases are due to mutations in COL1A1/A2 genes. We clinically and radiologically describes an adult male with type III osteogenesis imperfecta who presents a rare bone dysplasia termed bulbous epiphyseal deformity in association with popcorn calcifications. Popcorn calcifications may occur with bulbous epiphyseal deformity or independently. Methods Molecular analysis was performed for COL1A1, COL1A2, LEPRE1 and WNT1 genes. Results An uncommon COL1A1 mutation was identified. Clinical and radiological exams confirmed a distinctive bulbous epiphyseal deformity with popcorn calcifications in distal femurs. We have identified four additional OI patients reported in current literature, whose X-rays show bulbous epiphyseal deformity related to mutations in CR-TAP, LEPRE1 and WNT1 genes. Conclusion The mutation identified here had been previously described twice in OI patients and no previous correlation with bulbous epiphyseal deformity was described. The occurrence of this bone dysplasia focuses attention on alterations in normal growth plate differentiation and the subsequent effect on endochondral bone formation in OI. PMID:26604951

  10. Fracture properties of growth plate cartilage compared to cortical and trabecular bone in ovine femora.

    PubMed

    Tschegg, E K; Celarek, A; Fischerauer, S F; Stanzl-Tschegg, S; Weinberg, A M

    2012-10-01

    Fracture mechanical parameters (notch tensile strength, specific fracture energy/crack resistance and specific crack initiation energy) of epiphyseal plate cartilage, trabecular bone (metaphysis) and cortical bone (diaphysis) were determined on ovine femur specimens. The fracture behaviour before and after crack initiation was recorded in force-displacement diagrams from wedge splitting tests. Crack propagation was stable both during and after the formation of a principal crack. This is the main advantage of the wedge-splitting method by Tschegg in comparison with tensile tests. Microscopy of the epiphyseal plate during fracture showed fibre elongation and tearing in the crack tip region. The results of this study can help to understand the mechanics of epiphyseal plate injuries and the obtained values can be used for computational simulations and models. PMID:23022566

  11. Giant cell tumor of bone arising in long bones possibly originates from the metaphyseal region

    PubMed Central

    FUTAMURA, NAOHISA; URAKAWA, HIROSHI; TSUKUSHI, SATOSHI; ARAI, EISUKE; KOZAWA, EIJI; ISHIGURO, NAOKI; NISHIDA, YOSHIHIRO

    2016-01-01

    Giant cell tumor of bone (GCTB) is a primary benign bone tumor with a locally aggressive character. Definitive descriptions of the site of origin for this type of tumor are not available. The aim of the present study was to evaluate the site of origin of GCTB of long bones with regards to epiphyseal lines by means of radiographic examination. For that purpose, plain X-ray scans of 71 GCTBs arising in long bones were retrospectively reviewed. The tumor locations were the distal femur in 31 cases, proximal femur in 11 cases, proximal tibia in 13 cases, distal radius in 6 cases, proximal humerus in 5 cases and proximal fibula in 5 cases. The vertical center (VC) of the tumor was determined with X-ray anteroposterior view, and the correlation between the VC and the epiphyseal line, and between the distance from the epiphyseal line to the VC and tumor area or volume were analyzed using a regression model equation based on scatter plot diagrams. The VC of the tumor was located in the metaphyseal region in 57 cases, in the epiphyseal line in 11 cases and in the epiphyseal region in 3 cases. In cases of GCTB located in the distal femur or proximal tibia, significant correlations between the distance from the VC to the epiphyseal line and tumor area or volume were identified. The site of origin of GCTB was estimated to be located in the metaphyseal region. GCTB often occurs in mature patients, which renders it challenging to estimate the true site of origin of this lesion, since the metaphyseal line has disappeared in mature patients. The results of the present study suggest that GCTB possibly originates in the metaphyseal region. PMID:27073530

  12. Synergistic local drug delivery in a piglet model of ischemic osteonecrosis: a preliminary study.

    PubMed

    Zou, Yuan; Fisher, Paul D; Horstmann, Joanna K; Talwalkar, Vishwas; Milbrandt, Todd A; Puleo, David A

    2015-11-01

    A locally injectable system sequentially delivering an antiresorptive drug (clodronate) followed by an osteogenic agent (simvastatin) was hypothesized to improve femoral head microarchitecture, size, and shape compared with untreated or partial treatment groups in an established piglet osteonecrosis model. After 6 weeks, the clodronate+simvastatin treatment resulted in no collapse, microCT measurements and epiphyseal quotients within 10% of control, normal microstructure, and healthy histology. All other groups exhibited collapse, lower epiphyseal quotients and total femoral head volumes (P<0.05), and abnormal histology. This pilot study provides evidence of synergistic antiresorptive and osteogenic activities, which may prevent femoral head collapse in Perthes disease. PMID:26196370

  13. Distal tibial physeal bridge: a complication from a tension band plate and screw construct. Report of a case.

    PubMed

    Oda, Jon E; Thacker, Mihir M

    2013-05-01

    We report on a case of a tension band plate and screw construct (Eight Plate) used over the anterior distal tibia in an 9-year-old girl in an attempt to induce recurvatum of the ankle joint to correct a recalcitrant equinus deformity. With growth of the distal tibial physis, the epiphyseal screw was drawn through the physis into the distal tibial metaphysis, resulting in the creation of a transphyseal bony bar. Caution should be exercised when attempting temporary hemiepiphyseodesis using a plate and screw construct in small epiphyses or in an osteopenic bone. PMID:22158054

  14. Contribution of magnetic resonance imaging of the wrist and hand to forensic age assessment.

    PubMed

    Serin, Jeanne; Rérolle, Camille; Pucheux, Julien; Dedouit, Fabrice; Telmon, Norbert; Savall, Frédéric; Saint-Martin, Pauline

    2016-07-01

    Forensic age estimation of living individuals is a controversial subject because of the imprecision of the available methods which leads to errors. Moreover, young persons are exposed to radiation, without diagnostic or therapeutic advantage. Recently, non-invasive imaging techniques such as magnetic resonance imaging (MRI) have been studied in this context. The aim of this work was to study if the analysis of wrist/hand MRI enabled determination of whether a subject was 18 years old. Two observers retrospectively analyzed metaphyseal-epiphyseal fusion of the distal epiphysis of the radius and the ulna and the base of the first metacarpus in wrist/hand MRI of living people between 9 and 25 years of age. A three-stage scoring system was applied to all epiphyses. Intra- and inter-observer variability was excellent. Staging of the distal radial epiphysis allowed the subjects to be correctly evaluated with regard to the 18-year-old threshold in more than 85 % of cases. Analysis of the radius alone was as good as the analysis of the three epiphyses together. Evaluation of the metaphyseal-epiphyseal fusion of the distal radius in wrist MRI gave good results in forensic age estimation. Wrist MRI could meet ethical expectations with regard to the link between the benefit and risk of practicing radiologic examination on individuals in this context. PMID:27025715

  15. Injuries to the Young Athlete.

    ERIC Educational Resources Information Center

    Sandusky, Jane C.

    A review of literature on the incidence and nature of injuries to young athletes is presented on the topics of: (1) physiological characteristics of preadolescents, adolescents, and young adults; (2) musculo-skeletal changes in the growing athlete; (3) epiphyseal injuries and their potential for resulting in temporary or permanent impairment; (4)…

  16. Which X-ray views are required in juvenile ankle trauma?

    PubMed

    Heim, M; Blankstein, A; Israeli, A; Horoszowski, H

    1990-01-01

    Although ankle sprains are probably the most common injury in adolescent sports people, epiphyseal injuries are missed on the presumption of a ligamentous tear. The risk of damaged ligaments has been overemphasized while the potentially dangerous epiphyseolysis has been understressed. An oblique X-ray of the ankle joint is indicated prior to "stress" pictures. PMID:2346717

  17. ( sup 99m Tc)diphosphonate uptake and hemodynamics in arthritis of the immature dog knee

    SciTech Connect

    Hansen, E.S.; Soballe, K.; Henriksen, T.B.; Hjortdal, V.E.; Buenger, C. )

    1991-03-01

    The relationship between (99mTc)diphosphonate uptake and bone hemodynamics was studied in canine carrageenan-induced juvenile chronic arthritis. Blood flow was determined with microspheres, plasma and red cell volumes were measured by labeled fibrinogen and red cells, and the microvascular volume and mean transit time of blood were calculated. Normal femoral epiphyses had lower central and higher subchondral blood flow and diphosphonate uptake values. Epiphyseal vascular volume was uniform, resulting in a greater transit time of blood centrally. In arthritis, blood flow and diphosphonate uptake were increased subchondrally and unaffected centrally, while epiphyseal vascular volume was increased throughout, leading to prolonged transit time centrally. The normal metaphyses had low blood flow and diphosphonate uptake values in cancellous bone and very high values in growth plates, but a large vascular volume throughout. The mean transit time therefore was low in growth plates and high in adjacent cancellous bone. Arthritis caused decreased blood flow and diphosphonate uptake in growth plates but increased vascular volume and transit time of blood. Diphosphonate uptake correlated positively with blood flow and plasma volume and negatively with red cell volume in a nonlinear fashion. Thus, changes in diphosphonate uptake and microvascular hemodynamics occur in both epiphyseal and metaphyseal bone in chronic synovitis of the immature knee. The (99mTc)diphosphonate bone scan seems to reflect blood flow, plasma volume, and red cell volume of bone.

  18. Regeneration of Articular Cartilage in Lizard Knee from Resident Stem/Progenitor Cells

    PubMed Central

    Alibardi, Lorenzo

    2015-01-01

    The epiphysis of femur and tibia in the lizard Podarcis muralis can extensively regenerate after injury. The process involves the articular cartilage and metaphyseal (growth) plate after damage. The secondary ossification center present between the articular cartilage and the growth plate is replaced by cartilaginous epiphyses after about one month of regeneration at high temperature. The present study analyzes the origin of the chondrogenic cells from putative stem cells located in the growing centers of the epiphyses. The study is carried out using immunocytochemistry for the detection of 5BrdU-labeled long retaining cells and for the localization of telomerase, an enzyme that indicates stemness. The observations show that putative stem cells retaining 5BrdU and positive for telomerase are present in the superficial articular cartilage and metaphyseal growth plate located in the epiphyses. This observation suggests that these areas represent stem cell niches lasting for most of the lifetime of lizards. In healthy long bones of adult lizards, the addition of new chondrocytes from the stem cells population in the articular cartilage and the metaphyseal growth plate likely allows for slow, continuous longitudinal growth. When the knee is injured in the adult lizard, new populations of chondrocytes actively producing chondroitin sulfate proteoglycan are derived from these stem cells to allow for the formation of completely new cartilaginous epiphyses, possibly anticipating the re-formation of secondary centers in later stages. The study suggests that in this lizard species, the regenerative ability of the epiphyses is a pre-adaptation to the regeneration of the articular cartilage. PMID:26340619

  19. Pediatric Frostbite Treated by Negative Pressure Wound Therapy.

    PubMed

    Poulakidas, Stathis J; Kowal-Vern, Areta; Atty, Corinne

    2016-01-01

    Frostbite injury in children can lead to abnormal growth and premature fusion of the epiphyseal cartilage with long-term sequela including, but not limited to, arthroses, deformity, and amputation of the phalanges. This was a retrospective chart review of pediatric frostbite identified in an in-house burn center registry from March 1999 to March 2014. Therapeutic management included negative pressure wound therapy (NPWT). Three patients (age 16-31 months) had frostbitten hands because they were outside in cold weather without gloves. They presented within 24 hours after injury, underwent 5-6 days of NPWT after excision of blisters, and did not lose the distal portion of their digits, or require amputations. On follow-up, all hands were healed well with only minimal or no effect on the growth plate of these pediatric patients. In the early period after frostbite, NPWT may be beneficial in preserving the epiphyseal cartilage in children and preventing long-term complications. PMID:26284629

  20. Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene.

    PubMed

    Ballo, R; Beighton, P H; Ramesar, R S

    1998-10-30

    The type II collagenopathies include a wide spectrum of phenotypes ranging from mild spondylo epiphyseal dysplasia (SED) to severe achondrogenesis/hypochondrogenesis. Several attempts have been made at providing phenotype-genotype correlations in this group of disorders. In this report we discuss a South African family in which four members have a phenotype resembling Stickler syndrome type 1. Ocular problems and conductive deafness predominate, while skeletal changes resemble those of a mild form of multiple epiphyseal dysplasia (MED). In distinction to the classical form of Stickler syndrome, the affected persons have stubby digits. DNA analysis of the exons of the COL2A1 gene documented a C-T transversion in exon 39, resulting in an Arg704Cys substitution in the triple helical domain of the type II collagen peptide; this nontermination mutation may be indicative of further heterogeneity in the Stickler group of disorders or of a new syndrome amongst the type II collagenopathies. PMID:9800905

  1. Acute Primary Hematogenous Osteomyelitis in the Epiphysis of the Distal Tibia: A Case Report With Review of the Literature.

    PubMed

    Hwang, Hyun-Jung; Jeong, Woong-Kyo; Lee, Dae-Hee; Lee, Soon-Hyuck

    2016-01-01

    Osteomyelitis originating in the epiphysis of the long bones is quite rare and is usually found at either the distal femur or the proximal tibia. We report the case of a 12-year-old male with epiphyseal osteomyelitis that had developed in the distal tibia. To the best of our knowledge, this is the first published case report. The patient's history of a trauma that resembled an ankle sprain had delayed the diagnosis and subsequently led him to develop septic arthritis. The ankle is a common site of simple trauma; however, epiphyseal osteomyelitis is rare at this site. Therefore, if the symptoms continue or worsen after trauma, the clinician should check the affected site and take a more aggressive approach to make an early diagnosis. PMID:26878809

  2. Jackson-Weiss syndrome: Clinical and radiological findings in a large kindred and exclusion of the gene from 7p21 and 5qter

    SciTech Connect

    Ades, L.C.; Haan, E.A.; Mulley, J.C.; Senga, I.P.; Morris, L.L.; David, D.J.

    1994-06-01

    We describe the clinical and radiological manifestations of the Jackson-Weiss syndrome (JWS) in a large South Australian kindred. Radiological abnormalities not previously described in the hands include coned epiphyses, distal and middle phalangeal hypoplasia, and carpal bone malsegmentation. New radiological findings in the feet include coned epiphyses, hallux valgus, phalangeal, tarso-navicular and calcaneo-navicular fusions, and uniform absence of metatarsal fusions. Absence of linkage to eight markers along the short arm of chromosome 7 excluded allelian between JWS and Saethre-Chotzen syndrome at 7p21. No linkage was detected to D5S211, excluding allelism to another recently described cephalosyndactyly syndrome mapping to 5qter. 35 refs., 5 figs., 4 tabs.

  3. Physes around the shoulder girdle: normal development and injury patterns.

    PubMed

    Anwar, I; Amiras, D; Khanna, M; Walker, M

    2016-07-01

    Traumatic injuries involving the scapula and clavicle in skeletally immature patients have unique characteristics that distinguish them from similar injuries in the mature skeleton. Fractures involving unossified cartilage and unfused epiphyses are difficult to appreciate on plain radiographs and computed tomography (CT) imaging. Knowledge of the developmental anatomy and normal radiological appearances during different stages of development of these bones is an essential prerequisite for the radiologist tasked with interpreting the imaging of such injuries in order to avoid potential diagnostic pitfalls. With increased availability and improved resolution of magnetic resonance imaging (MRI), we are now better able to distinguish between true joint dislocations and epiphyseal injuries. Making this distinction is important because it can have implications with regards to how the patient is managed and the prognosis. PMID:27114286

  4. Comparison of calcium and phosphorus excretion with bone density changes during restraint in immature Macaca nemestrina primates.

    NASA Technical Reports Server (NTRS)

    Hoffman, R. A.; Hood, W. N.; Mack, P. B.

    1972-01-01

    Calcium and phosphorus balance data on Macaca nemestrina monkeys during immobilization are presented and correlated with X-ray bone densitometry findings. A positive mineral balance was maintained during the immobilized period. A reduced bone density was observed in most skeletal sites examined with increased density observed in epiphyseal regions. Migration of mineral from one site to another is suggested as a possible explanation for the findings.

  5. [The effect of local exposure to Mg and heat on the biosynthesis of sulfur-containing compounds in the oral tissues].

    PubMed

    Varava, G N; Podorozhnaia, R P; Genesina, T I; Kuz'menko, V E; Totskiĭ, A V

    1989-01-01

    Local Mg electrophoresis was shown to considerably increase the radiolabeled sulphate contents in an application area: gums, mandibular alveolar processes, lower incisors and molars roots. In areas far beyond the phoresis sites (femoral epiphyses and diaphyses) label incorporation was not affected. Mg-free galvanization had no effect on sulphate incorporation into the mineralized tissues. Heating up to 50 C substantially increased the S radioactivity in alveolar processes, molar and incisor roots. Simultaneous heating with Mg electrophoresis produced an additive effect. PMID:2623690

  6. Increases in bone density during treatment of men with idiopathic hypogonadotropic hypogonadism

    SciTech Connect

    Finkelstein, J.S.; Klibanski, A.; Neer, R.M.; Doppelt, S.H.; Rosenthal, D.I.; Segre, G.V.; Crowley, W.F. Jr. )

    1989-10-01

    To assess the effects of gonadal steroid replacement on bone density in men with osteoporosis due to severe hypogonadism, we measured cortical bone density in the distal radius by 125I photon absorptiometry and trabecular bone density in the lumbar spine by quantitative computed tomography in 21 men with isolated GnRH deficiency while serum testosterone levels were maintained in the normal adult male range for 12-31 months (mean +/- SE, 23.7 +/- 1.1). In men who initially had fused epiphyses (n = 15), cortical bone density increased from 0.71 +/- 0.02 to 0.74 +/- 0.01 g/cm2 (P less than 0.01), while trabecular bone density did not change (116 +/- 9 compared with 119 +/- 7 mg/cm3). In men who initially had open epiphyses (n = 6), cortical bone density increased from 0.62 +/- 0.01 to 0.70 +/- 0.03 g/cm2 (P less than 0.01), while trabecular bone density increased from 96 +/- 13 to 109 +/- 12 mg/cm3 (P less than 0.01). Cortical bone density increased 0.03 +/- 0.01 g/cm2 in men with fused epiphyses and 0.08 +/- 0.02 g/cm2 in men with open epiphyses (P less than 0.05). Despite these increases, neither cortical nor trabecular bone density returned to normal levels. Histomorphometric analyses of iliac crest bone biopsies demonstrated that most of the men had low turnover osteoporosis, although some men had normal to high turnover osteoporosis. We conclude that bone density increases during gonadal steroid replacement of GnRH-deficient men, particularly in men who are skeletally immature.

  7. A simple and safe technique for tibial lengthening.

    PubMed

    Rezaian, S M; Abtahi, M

    1986-06-01

    This is a report of long-term results and complications in 62 patients. Closed tibial osteotomy, direct tibial distraction, and simultaneous indirect proximal fibular epiphyseal distraction are the essential features of this new technique. Fibular osteotomy and complications from tibiofibular synostosis are eliminated. Bone graft and plating procedures have been proven to be unnecessary. The patient is ambulated immediately. Hospitalization has been reduced to a few days. PMID:3720089

  8. Anterior Cruciate Ligament Graft Isometry Is Affected by the Orientation of the Femoral Tunnel.

    PubMed

    Ebersole, Gregg M; Eckerle, Paul; Farrow, Lutul D; Cutuk, Adnan; Bledsoe, Gary; Kaar, Scott

    2016-04-01

    Purpose The purpose of this study was to compare anterior cruciate ligament (ACL) graft length and tension throughout knee range of motion with transtibial, anteromedial (AM) portal, and all-epiphyseal drilling techniques with suspensory and apical femoral fixation. Methods The three different femoral tunnel drilling techniques using the same intra-articular starting point within the center of the femoral footprint were performed on fresh-frozen cadaveric specimens. All groups underwent standard tibial drilling in the center of the ACL tibial footprint. FiberWire (Arthrex Inc., Naples, FL) was used to simulate anatomic single bundle reconstructions. Changes in graft length and tension were measured at knee flexion angles of 0, 30, 60, 90, 120, and 135 degrees. Results Graft length and tension decreased from 0 through 60 degrees and subsequently increased from 90 to 135 degrees for all groups. The transtibial, AM portal suspensory, and apical fixation groups were similar. However, the all-epiphyseal tunnel with suspensory fixation had a significantly increased change in length (90, 120, and 135 degrees) and tension (120 and 135 degrees). Conclusion Transtibial and AM portal suspensory fixation and apical fixation demonstrate similar changes in length and tension throughout knee range of motion. The all-epiphyseal tunnel with suspensory fixation was associated with greater length and tension changes at higher degrees of knee flexion. All techniques demonstrated decreased graft length and tension with knee flexion to 60 degrees after which they increased with further knee flexion. Clinical Relevance ACL graft length and tension change throughout knee range of motion and also depend on femoral tunnel orientation and fixation type. The use of an all-epiphyseal tunnel with suspensory fixation should be studied further for evidence of graft elongation. PMID:26190786

  9. Crooked fingers and sparse hair: an interesting case of trichorhinophalangeal syndrome type 1.

    PubMed

    Narayanan, Ramakrishna; Chennareddy, Srinivasa

    2015-01-01

    Trichorhinophalangeal syndrome type 1 is a rare skeletal dysplasia of autosomal-dominant inheritance due to defects in the TRPS-1 gene. The syndrome is characterised by sparse slow-growing hair, a bulbous pear-shaped nose, cone-shaped epiphyses and deformities of the interphalangeal joints resembling those in rheumatoid arthritis. We present a case of trichorhinophalangeal syndrome in a 23-year-old man who presented with symmetrical painless progressive deformity of the fingers in both hands. PMID:25628322

  10. Early characteristic findings in bowleg deformities: evaluation using magnetic resonance imaging.

    PubMed

    Mukai, S; Suzuki, S; Seto, Y; Kashiwagi, N; Hwang, E S

    2000-01-01

    We used magnetic resonance imaging (MRI) to evaluate bowleg deformities in infancy. Twenty-five tibiae of 13 infants were examined and divided into two groups based on MRI findings: group A had high intensity area in the medial epiphyseal cartilage on T2-weighted images. Group B had depression of medial physis and abnormal signal in the perichondrial region in addition to the epiphyseal lesion. At the final follow-up, all cases in group A demonstrated normal lower leg alignments, whereas five cases in group B showed characteristic roentogenographic findings of Blount's disease. The improvement rate of metaphyseal-diaphyseal angle was correlated with this classification. These findings suggested that abnormal findings in physis and perichondrial region might be preliminary findings in early stage of Blount's disease. The high intensity areas in the medial epiphyseal cartilage were commonly found among the cases with bowing deformities, which suggested that there might be a common pathomechanism between physiologic bowing and infantile Blount's disease. PMID:11008740

  11. Ossification Pattern of Estuarine Dolphin (Sotalia guianensis) Forelimbs, from the Coast of the State of Espírito Santo, Brazil

    PubMed Central

    Botta, Silvina; de Queiroz, Fábio Ferreira; Campos, Adélia Sepúlveda

    2015-01-01

    The estuarine dolphin, Sotalia guianensis, is one of the most abundant cetacean species in Brazil. Determination of age and of aspects associated with the development of this species is significant new studies. Counts of growth layer groups in dentin are used to estimate age of these animals, though other ways to evaluate development are also adopted, like the measurement of total length (TL). This study presents a procedure to evaluate the development of the estuarine dolphin based on the ossification pattern of forelimbs. Thirty-seven estuarine dolphins found in the state of Espírito Santo, Brazil, were examined. Age was estimated, TL was measured and ossification of epiphyses was examined by radiography. We analyzed results using the Spearman correlation. Inspection of radiographs allowed evaluation of the significance of the correlation between age and development of the proximal (r = 0.9109) and distal (r = 0.9092) radial epiphyses, and of the distal ulnar epiphyses (r = 0.9055). Radiographic analysis of forelimbs proved to be an appropriate method to evaluate physical maturity, and may be a helpful tool to estimate age of these animals in ecological and population studies. PMID:26017269

  12. Altered lumbar spine structure, biochemistry and biomechanical properties in a canine model of mucopolysaccharidosis type VII

    PubMed Central

    Smith, Lachlan J; Martin, John T; Szczesny, Spencer E; Ponder, Katherine P; Haskins, Mark E; Elliott, Dawn M

    2010-01-01

    Mucopolysaccharidosis VII (MPS VII) is a lysosomal storage disorder characterized by a deficiency in β-glucuronidase activity, leading to systemic accumulation of poorly degraded glycosaminoglycans (GAG). Along with other morbidities, MPS VII is associated with paediatric spinal deformity. The objective of this study was to examine potential associations between abnormal lumbar spine matrix structure and composition in MPS VII, and spine segment and tissue-level mechanical properties, using a naturally occurring canine model with a similar clinical phenotype to the human form of the disorder. Segments from juvenile MPS VII and unaffected dogs were allocated to: radiography, gross morphology, histology, biochemistry, and mechanical testing. MPS VII spines had radiolucent lesions in the vertebral body epiphyses. Histologically, this corresponded to a GAG-rich cartilaginous region in place of bone, and elevated GAG staining was seen in the annulus fibrosus. Biochemically, MPS VII samples had elevated GAG in the outer annulus fibrosus and epiphyses, low calcium in the epiphyses, and high water content in all regions except the nucleus pulposus. MPS VII spine segments had higher range of motion and lower stiffness than controls. Endplate indentation stiffness and failure loads were significantly lower in MPS VII samples, while annulus fibrosus tensile mechanical properties were normal. Vertebral body lesions in MPS VII spines suggest a failure to convert cartilage to bone during development. Low stiffness in these regions likely contributes to mechanical weakness in motion segments and is a potential factor in the progression of spinal deformity. PMID:19918911

  13. Hypochondrogenesis.

    PubMed

    Maroteaux, P; Stanescu, V; Stanescu, R

    1983-10-01

    Three clinicopathological observations of a mild form of type II achondrogenesis are presented. The cases were selected from a group of 21 similar cases to illustrate the various degrees of clinical and roentgenological signs that can be found. The cases had various survival periods after birth but not exceeding several months. The roentgenological signs were less severe than those of type II achondrogenesis. Some cases similar to case no. 3 have roentgenological signs very close to spondylo-epiphyseal dysplasia congenita and probably were confused previously with the latter. The name of hypochondrogenesis was proposed for these cases because the lesions of the growth plate are similar although less marked to those found in type II achondrogenesis: high cellularity with poor matrix development; irregular columnization and vascular penetration; large chondrocytes and even more enlarged lacunae; large sclerotic cartilage canals. The clinical and roentgenological diagnosis of hypochondrogenesis could be difficult especially in the less severe forms. The delay in vertebral ossification, the absence of all the epiphyseal nuclei and of the tarsal bones might suggest the diagnosis of hypochondrogenesis, rather than that of spondyloepiphyseal dysplasia. The evolution which seems to be always lethal in a period of several weeks or months would make the diagnosis still more likely and it could be confirmed by histopathological examination. Cases of spondylo-epiphyseal dysplasia congenita might have at birth, roentgenological signs indistinguishable from those of hypochondrogenesis, as was illustrated by case no. 4.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:6641761

  14. Heterochrony and post-natal growth in mammals--an examination of growth plates in limbs.

    PubMed

    Geiger, M; Forasiepi, A M; Koyabu, D; Sánchez-Villagra, M R

    2014-01-01

    Mammals display a broad spectrum of limb specializations coupled with different locomotor strategies and habitat occupation. This anatomical diversity reflects different patterns of development and growth, including the timing of epiphyseal growth plate closure in the long bones of the skeleton. We investigated the sequence of union in 15 growth plates in the limbs of about 400 specimens, representing 58 mammalian species: 34 placentals, 23 marsupials and one monotreme. We found a common general pattern of growth plate closure sequence, but one that is universal neither between species nor in higher-order taxa. Locomotor habitat has no detectable correlation with the growth plate closure sequence, but observed patterns indicate that growth plate closure sequence is determined more strongly through phylogenetic factors. For example, the girdle elements (acetabulum and coracoid process) always ossify first in marsupials, whereas the distal humerus is fused before the girdle elements in some placentals. We also found that heterochronic shifts (changes in timing) in the growth plate closure sequence of marsupials occur with a higher rate than in placentals. This presents a contrast with the more limited variation in timing and morphospace occupation typical for marsupial development. Moreover, unlike placentals, marsupials maintain many epiphyses separated throughout life. However, as complete union of all epiphyseal growth plates is recorded in monotremes, the marsupial condition might represent the derived state. PMID:24251599

  15. CT evaluation of medial clavicular epiphysis as a method of bone age determination in adolescents and young adults

    PubMed Central

    Ufuk, Furkan; Agladioglu, Kadir; Karabulut, Nevzat

    2016-01-01

    PURPOSE We aimed to investigate the use of computed tomography (CT) staging of the medial clavicular epiphysis ossification in forensic bone age determination, and find a CT criterion to determine whether an individual is adult or not. METHODS Chest CT and pulmonary CT angiography exams of 354 patients between 10 and 30 years of age (mean, 21.4 years) were retrospectively evaluated for epiphyseal ossification phase of the bilateral medial clavicles (708 clavicles) and compared with the sex and chronologic age of the individuals. The ossification phase of the medial clavicular epiphyses was classified from stage I to stage V using a modified staging system. RESULTS Epiphyseal ossification center appeared from 11 to 21 years of age. Partial fusion occurred between 16 and 23 years of age. Complete fusion was first achieved at the ages of 18 and 19 years for male and female individuals, respectively. The probability of an individual being ≥18 years old was 70.8% in stage III A and 100% in stages III B, IV, and V in females and males. CONCLUSION CT evaluation of the medial clavicular epiphysis is helpful in forensic age determination and stage III B can be used as a criterion to make the prediction that an individual is older than 18 years. PMID:27015321

  16. /sup 99m/Tc-DPD uptake in juvenile hemarthrosis. Scintimetry and autoradiography of the knee in dogs

    SciTech Connect

    Hansen, E.S.; Hjortdal, V.E.; Noer, I.; Christensen, S.B.; Holm, I.E.; Buenger, C.

    1989-03-01

    The pathogenesis of subchondral bone lesions and growth plate affection in hemophilic arthropathy was studied in puppies by means of repeated regional /sup 99m/Tc-diphosphonate scintimetry and contact autoradiography. Unilateral hemarthrosis of the knee was induced by biweekly intraarticular injections of autologous blood for 12 weeks. Hemarthrosis caused an early (2 to 4 weeks) decrease in uptake of /sup 99m/Tc-diphosphonate in the juxtaarticular growth plates (ratio 0.7) and a delayed (8 to 10 weeks) increase in epiphyseal uptake (ratio 1.5). In a recovery phase after hemarthrosis, growth plate uptake returned to normal, while the epiphyseal uptake remained elevated for 8 to 10 weeks. By contact autoradiography, the growth plate uptake was localized to the calcification layer at the metaphyseal aspect of the growth plates, while the epiphyseal uptake mainly was seen in the thin subchondral and subsynovial bone layer and around osteophytes. The changes in uptake of /sup 99m/Tc-diphosphonate following hemarthrosis for 3 months were reversible and could be ascribed to the presence of synovial inflammation.

  17. Ossification Pattern of Estuarine Dolphin (Sotalia guianensis) Forelimbs, from the Coast of the State of Espírito Santo, Brazil.

    PubMed

    de Carvalho, Anna Paula Martins; Lima, Juliana Ywasaki; Azevedo, Carolina Torres; Botta, Silvina; de Queiroz, Fábio Ferreira; Campos, Adélia Sepúlveda; Barbosa, Lupércio de Araújo; da Silveira, Leonardo Serafim

    2015-01-01

    The estuarine dolphin, Sotalia guianensis, is one of the most abundant cetacean species in Brazil. Determination of age and of aspects associated with the development of this species is significant new studies. Counts of growth layer groups in dentin are used to estimate age of these animals, though other ways to evaluate development are also adopted, like the measurement of total length (TL). This study presents a procedure to evaluate the development of the estuarine dolphin based on the ossification pattern of forelimbs. Thirty-seven estuarine dolphins found in the state of Espírito Santo, Brazil, were examined. Age was estimated, TL was measured and ossification of epiphyses was examined by radiography. We analyzed results using the Spearman correlation. Inspection of radiographs allowed evaluation of the significance of the correlation between age and development of the proximal (r = 0.9109) and distal (r = 0.9092) radial epiphyses, and of the distal ulnar epiphyses (r = 0.9055). Radiographic analysis of forelimbs proved to be an appropriate method to evaluate physical maturity, and may be a helpful tool to estimate age of these animals in ecological and population studies. PMID:26017269

  18. Climate-mediated shifts in Neandertal subsistence behaviors at Pech de l'Azé IV and Roc de Marsal (Dordogne Valley, France).

    PubMed

    Hodgkins, Jamie; Marean, Curtis W; Turq, Alain; Sandgathe, Dennis; McPherron, Shannon J P; Dibble, Harold

    2016-07-01

    Neandertals disappeared from Europe just after 40,000 years ago. Some hypotheses ascribe this to numerous population crashes associated with glacial cycles in the late Pleistocene. The goal of this paper is to test the hypothesis that glacial periods stressed Neandertal populations. If cold climates stressed Neandertals, their subsistence behaviors may have changed-requiring intensified use of prey through more extensive nutrient extraction from faunal carcasses. To test this, an analysis of Neandertal butchering was conducted on medium sized bovid/cervid remains composed of predominately red deer (Cervus elaphus), reindeer (Rangifer tarandus), and roe deer (Capreolus caprelous) deposited during global warm and cold phases from two French sites: Pech de l'Azé IV (Pech IV, Bordes' excavation) and Roc de Marsal (RDM). Analysis of surface modification on high survival long bones and proximal and middle phalanges demonstrates that skeletal elements excavated from the cold levels (RDM Level 4, Pech IV Level I2) at each cave have more cut marks and percussion marks than elements from the warm levels (RDM Level 9, Pech IV Level Y-Z) after controlling for fragment size. At both sites, epiphyseal fragments are rare, and although this pattern can result from carnivore consumption, carnivore tooth marks are almost nonexistent (<0.1%). Alternatively, processing epiphyseal ends for bone grease may have been a Neandertal survival strategy, and epiphyses were more intensively percussed in cold levels than in warm levels at both RDM and Pech IV. The exploitation of low marrow yield elements such as phalanges does not show a consistent pattern relating to climate, but may have been a general Neandertal behavioral characteristic, suggesting that these hominids were regularly on the edge of sufficient nutrient availability even during interglacials. Overall, the faunal assemblages from Roc de Marsal and Pech IV provide some support for the hypothesis that Neandertals were processing

  19. Operative management of bilateral Salter-Harris type III fractures of the proximal phalanges of the great toes of a 10-year-old female ballet dancer: a case report.

    PubMed

    Csonka, Akos; Sikarinkul, Eakachit; Gargyan, Istvan; Boa, Kristof; Varga, Endre

    2016-07-01

    Differentiation between the normal variant cleft epiphysis and Salter-Harris type III fracture of the first proximal phalanges of the foot in children might be challenging. The authors describe a case of a 10-year-old ballet dancer girl with bilateral epiphyseal segmentation of the first proximal phalanges of the foot, unresponsive to conservative treatment. Considered a nonhealing stress-induced fracture, operative treatment with closed reduction and Herbert screw insertion was chosen on both sides. Complete union was achieved, with significant reduction of pain. The presented case suggests that internal fixation can be a viable option in the treatment of the problem. PMID:26919623

  20. Wolcott-Rallison syndrome.

    PubMed

    Juneja, A; Sultan, A; Bhatnagar, S

    2012-01-01

    Multiple epiphyseal dysplasia with early-onset diabetes mellitus (also known as Wolcott-Rallison syndrome) is a rare autosomal recessive disorder that manifests itself in early infancy with symptoms of diabetes mellitus. Short stature and walking difficulties become evident in the 2 nd year of life when the child starts to walk. These skeletal changes are progressive with age. There is usually a short trunk, excessive lordosis, a short and broad chest, and genu valgum. This report presents a case of Wolcott-Rallison syndrome in a 10 year old child. PMID:23263430

  1. A new type of a lethal osteochondrodysplasia with angel-shaped brachyphalangy.

    PubMed

    Caduff, R; Giedion, A; Briner, J; Martin, E

    1994-01-01

    A hydropic stillborn female fetus of 22 weeks gestation with shortlimbed skeletal dysplasia and brachyphalangy is described. The markedly shortened phalanges of both hands had a most unusual angel-like configuration radiologically. Histological examination and comparison with a normal hand of the same gestational age revealed this appearance to be due to disturbed enchondral ossification with premature calcification of epiphyseal cartilage and thickening and outfolding of diaphyseal bone as wing-shaped appositions. Magnetic resonance imaging of the fetus demonstrated marked hyperplasia of cartilage, most impressive in the pelvis. This new type of lethal bone dysplasia may be placed in the group of metatropic dysplasias and similar disorders. PMID:7981898

  2. Unusual proximal tibiofibular synostosis.

    PubMed

    Takai, S; Yoshino, N; Hirasawa, Y

    1999-01-01

    Proximal tibiofibular synostosis without multiple hereditary exostosis is extremely rare and only 7 cases have been reported in the literature. All of the previously reported cases accompanied deformities such as distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee. The present case of a 24-year-old man had neither a history of trauma nor deformity around the knee. Therefore, it was suggested that this type of synostosis occurred after epiphyseal plate closure. PMID:10741527

  3. Ischial hypoplasia, tibial hypoplasia and facial abnormalities: a new syndrome?

    PubMed

    Nishimura, G; Haga, Y; Aoki, K; Hasegawa, T

    1998-12-01

    A child with facial abnormalities, short stature and a variety of skeletal alterations is reported. The facial abnormalities comprised low-set ears, short nose with a long philtrum, micrognathia and cleft palate. The skeletal alterations included ischial hypoplasia, malformations of the cervical spine, hypoplasia of the lesser trochanters, tibial hypoplasia with bowing of the lower legs, tibio-fibular diastasis with malformed distal tibial epiphyses, clubfeet and brachymesophalangy. The constellation of clinical and radiological findings in the present patient do not fit any known malformation syndrome. PMID:9880644

  4. Osteofibrous dysplasia of the tibia treated by bracing.

    PubMed

    Akamatsu, N; Hamada, Y; Kohno, H; Siddiqi, N A

    1992-01-01

    Osteofibrous dysplasia of the tibia in children will commonly recur after surgical resection. The use of a leg brace until puberty offers a useful method of conservative management. Seven female patients, age three months to nine years at the time of brace treatment, have been followed for 3.5 to 18 years, an average of nine years, with evidence of satisfactory healing of the lesions in all. Three of the cases had recurred after surgery, two with fibular grafts and one required leg lengthening. The use of a brace to control bowing of the tibia while awaiting spontaneous regression is advised until epiphyseal closure. PMID:1428320

  5. Reconstruction of the lateral malleolus in a type-Ib fibular hemimelia with a microvascular proximal fibular flap: a case report.

    PubMed

    Cavadas, Pedro C; Thione, Alessandro

    2015-07-01

    Fibular hemimelia, or fibular hypoplasia-aplasia, is the most frequent congenital long-bone deficiency. There is still some debate on reconstruction versus amputation for the severe type Ib and type II cases. Limb-length discrepancy can be corrected with Ilizarov methods, but ankle stability remains a problem. The absence of the lateral malleolus destabilizes the mortise in valgus and ankle fusion is usually needed. A case of lateral malleolus reconstruction in a teenage patient with severe type-Ib fibular hemimelia using a contralateral free proximal fibular epiphyseal transfer is reported. PMID:26035352

  6. [Possibilities of osteotomy. Osteotomy and corticotomy techniques].

    PubMed

    Baumgart, R; Kettler, M; Zeiler, C; Betz, A; Schweiberer, L

    1997-10-01

    Corrective measures on the bone undertaken after the fusion of epiphyses are only possible through an initial break in its continuity. This paper deals with the different methods of osteotomy available to the orthopaedic or trauma surgeon. After introducing the terminology of the so-called "osteotomy", the vascularity of the bone, special features of the various osteotomy site, the different indications, and particular details of the operative procedures are discussed. Special emphasis is placed on minimally invasive techniques and osteotomies in the framework of callus distraction. In addition to established procedures a new sawing technique for the Küntscher's closed osteotomy is described. PMID:9446235

  7. Development of an anthropomorphic shoulder phantom model that simulates bony anatomy for sonographic measurement of the acromiohumeral distance.

    PubMed

    Adusumilli, Pratik; McCreesh, Karen; Evans, Tony

    2014-11-01

    The purpose of this project was to create a sonographic phantom model of the shoulder that was accurate in bone configuration. Its main purpose was for operator training to measure the acromiohumeral distance. A computerized 3-dimensional model of the superior half of the humerus and scapula was rendered and 3-dimensionally printed. The bone model was embedded in a gelatin compound and set in a shoulder-shaped mold. The materials used had speeds of sound that were well matched to soft tissue and epiphyseal bone. The model was specifically effective in simulating the acromiohumeral distance because of its accurate bone geometry. PMID:25336490

  8. Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome

    SciTech Connect

    Nagai, T.; Kato, R.; Hasegawa, T.

    1995-01-02

    We describe a 5-year-old Japanese boy who has some radiographic findings characteristic of asphyxiating thoracic dystrophy (ATD)-chondroectodermal dysplasia with a de novo chromosome abnormality. He also has mild mental retardation, short stature, hypoplastic hair and skin, oligodontia, small thoracic cage, hypoplastic pelvis and cone-shaped epiphyses of hands. On cytogenetic studies he was found to have a de novo del(12)(p11.21p12.2). These results suggest that the locus of the gene associated with ATD-chondroectodermal dysplasia may be situated at 12p11.21p12.2. 11 refs., 2 figs.

  9. Experimental determinations of carcass processing by Plio-Pleistocene hominids and carnivores at FLK 22 (Zinjanthropus). Olduvai Gorge, Tanzania.

    PubMed

    Capaldo, S D

    1997-11-01

    Published and unpublished skeletal and surface mark data from the large, well-preserved, bovid dominated FLK 22 (Zinjanthropus) archaeofauna are analyzed using data derived from four different experimental control samples. The control samples are realistic because they are based on natural history and paleoecological data collected from FLK 22, and other Olduvai Gorge assemblages; they are precise because independent experimental studies following the same methods have generated the same results; and they restore generality to the study of site formation because each one models a different hominid and/or carnivore scenario of site formation. Comparability between FLK 22 and the control samples is established by excluding specimens from the former which do not meet identification and reporting standards derived from the latter. As in two previous studies, a comprehensive analysis of tooth marks and tool marks on long bone specimens from FLK 22 indicates that they were processed in three stages. In stage one, carnivores defleshed long bones, as inferred from the high percentage of tooth marks on midshaft fragments. In stage two, hominids processed intact long bones for marrow, as inferred from percussion mark percentages. Cut marks suggest that long bones retained flesh, but the amount, as yet, cannot be determined using cut mark percentages. In stage three, carnivores processed long bone epiphyses for grease, as inferred from the under-representation of long bone epiphyses and the high percentage of tooth marks on near-epiphyses and surviving epiphyses. The lack of comprehensive skeletal and surface mark data on cranial, axial, compact, and other specimens currently limits the application of experimental results. However, the available data suggest that the condition and representation of these items in the FLK 22 assemblage are also consistent with a carnivore to hominid to carnivore sequence of site formation. The variety of elements present, and their extensive

  10. Cono-spondylar dysplasia: clinical, radiographic, and molecular findings of a previously unreported disorder.

    PubMed

    Ben-Omran, Tawfeg; Lakhani, Shenela; Almureikhi, Mariam; Ali, Rehab; Takahashi, Atsushi; Miyake, Noriko; Matsumoto, Naomichi; Ikegawa, Shiro; Superti-Furga, Andrea; Unger, Sheila

    2014-09-01

    We report on a consanguineous Arab family in which three sibs had an unusual skeletal dysplasia characterized by anterior defects of the spine leading to severe lumbar kyphosis and marked brachydactyly with cone epiphyses. The clinical phenotype also included dysmorphic facial features, epilepsy, and developmental delay. This constellation likely represents a previously undescribed skeletal dysplasia, most probably inherited in an autosomal recessive pattern. A homozygosity mapping approach has thus far failed to unearth the responsible gene as the region shared by these three sibs is 27.7 Mb in size and contains over 200 genes with no obvious candidate. PMID:24975242

  11. Fourth case of cerebral, ocular, dental, auricular, skeletal syndrome (CODAS), description of new features and molecular analysis.

    PubMed

    Marlin, S; Ducou Le Pointe, H; Le Merrer, M; Portnoi, M F; Chantot, S; Jonard, L; Mantel-Guiochon, A; Siffroi, J P; Garabedian, E N; Denoyelle, F

    2010-06-01

    Cerebral, ocular, dental, auricular, skeletal syndrome (CODAS, OMIM 600373) is a very rare congenital malformation syndrome. This clinical entity is highly distinctive and associates mental retardation, cataract, enamel abnormalities, malformations of the helix, epiphyseal and vertebral malformations, and characteristic dysmorphic features. Since 1991, only three affected children have been reported. The etiology and pattern of inheritance of CODAS syndrome still remain unknown. We describe a new sporadic case presenting with all the characteristic features of CODAS syndrome associated with previously unreported malformations of the heart, larynx, and liver. All investigations such as karyotype, metabolic screening and array CGH were normal. PMID:20503327

  12. Re-implantation of a degloving amputation of distal index finger caused by fireworks: a case report and literature review.

    PubMed

    Zhang, Q; Cao, X C

    2013-07-01

    Amputations associated with fireworks are customarily treated by stump revision resulting in permanent disability. In this case report, we present an eight-year old boy who suffered an amputation of his right distal index finger at the level of the epiphyseal disk with degloving injury of the amputated finger caused by fireworks. Successful re-implantation was achieved. Two-year follow-up revealed fair cosmesis and acceptable functional and aesthetic recovery though the free distal phalanx had been absorbed completely. Re-implantation of a degloving amputation finger caused by fireworks is possible and can provide good distal soft tissue coverage and recovery of sensory and motor functions. PMID:24756749

  13. Response of growing bone to irradiation: A proposed late effects scoring system

    SciTech Connect

    Eifel, P.J.; Donaldson, S.S.; Thomas, P.R.M.

    1995-03-30

    The effect of radiation on epiphyseal bone growth is one of the most important dose-limiting factors in the radiotherapeutic management of children with malignant neoplasms. Clinical and laboratory evidence suggest that many factors may influence the severity of radiation-induced growth arrest. However, the absence of a consistent scoring system for late effects has hampered efforts to analyze the influence of various therapeutic maneuvers or to compare and collate results from different reported series. In this review, laboratory and clinical studies of radiation effects on growing bone are summarized, and a late effects scoring system is proposed. 29 refs., 1 fig., 2 tabs.

  14. Skeletal abnormalities of tricho-rhino-phalangeal syndrome type I.

    PubMed

    de Barros, Guilherme Monteiro; Kakehasi, Adriana Maria

    2016-01-01

    The tricho-rhino-phalangeal syndrome (TRPS) type I is a rare genetic disorder related to the TRPS1 gene mutation in chromosome 8, characterized by craniofacial abnormalities and disturbances in formation and maturation of bone matrix. The hallmarks are sparse and brittle hair, tendency to premature baldness, bulbous nose called pear-shaped, long and flat filter and low ear implantation. The most noticeable skeletal changes are clinodactyly, phalangeal epiphyses of the hands appearing as cone-shaped, short stature and hip joint malformations. We report a case of a teenager boy diagnosed with TRPS and referred for rheumatologic evaluation due to joint complaints. PMID:27267340

  15. Short Stature in Chronic Kidney Disease Treated with Growth Hormone and an Aromatase Inhibitor

    PubMed Central

    Mendley, Susan R.; Spyropoulos, Fotios; Counts, Debra R.

    2015-01-01

    We describe an alternative strategy for management of severe growth failure in a 14-year-old child who presented with advanced chronic kidney disease close to puberty. The patient was initially treated with growth hormone for a year until kidney transplantation, followed immediately by a year-long course of an aromatase inhibitor, anastrozole, to prevent epiphyseal fusion and prolong the period of linear growth. Outcome was excellent, with successful transplant and anticipated complete correction of height deficit. This strategy may be appropriate for children with chronic kidney disease and short stature who are in puberty. PMID:26101681

  16. The Radiograph of the Pelvis as a Window to Skeletal Dysplasias.

    PubMed

    Gajarajulu, Vijayalakshmi; Natarajan, Balakrishnan; Muralinath, S

    2016-06-01

    Skeletal dysplasias are disorders of bone formation. There are many dysplasias that have been identified and studied over the years and long lists of radiological features have been documented; it is not possible to remember all of them, most of which are common to more than one dysplasia. This article is about a practical approach to the radiological diagnosis of skeletal dysplasias by viewing only a few radiographs rather than the entire skeletal survey. The radiographs that are to be studied are AP view of the pelvis, dorsolumbar spine- AP and lateral view and both hands PA view, in that order. The skull lateral view and both knees AP view are sometimes required. The authors advice to set out with the pelvis that provides information of not only the pelvic bones but also parts of the lumbar spine and the upper ends of the femur including their epiphyses, metaphyses and a part of the diaphyses. Sometimes the diagnosis is reached with only this one radiograph, as in achondroplasia or it may indicate a group like mucopolysaccharidoses which can be sorted out with radiographs of the spine and hands or the upper part of the femur can provide a cue to epiphyseal and metaphyseal dysplasias. Gamuts and atlases can be consulted for the rare dysplasias. PMID:26821546

  17. The effect of Solanum malacoxylon on rachitic bone lesions in the rat.

    PubMed

    Kraft, D; van Herrath, D; Offermann, G; Schaefer, K

    1975-01-01

    The plant Solanum malacoxylon (S.M.) is known to cause severe soft tissue calcifications in cattle and sheep and has recently become of special interest since it exerts biological actions which resemble those of vitamin D. In order to investigate whether S.M. is capable to improve the rachitic bone changes in vitamin D and phosphate deficient rats, a watery extract of 50, 100 and 200 mg S.M. was fed daily to these animals over a period of 10 days. The width of epiphyseal plates was compared after the time with those of rats treates with 0, 0.225, 0.45, and 0.9 IU of vitamin D3 daily. There was a dose related curative effect of S.M. on the epiphyseal lesions very similar to that of vitamin D3. The hypercalcemic and hyperphosphatemic effect of S.M. was identical to that of vitamin D3. The 25-hydroxy-vitamin D serum levels remained almost undetectable in the S.M. treated rats as well as in the vitamin D3 treated animals. PMID:170546

  18. Spaceflight-induced bone loss alters failure mode and reduces bending strength in murine spinal segments.

    PubMed

    Berg-Johansen, Britta; Liebenberg, Ellen C; Li, Alfred; Macias, Brandon R; Hargens, Alan R; Lotz, Jeffrey C

    2016-01-01

    Intervertebral disc herniation rates are quadrupled in astronauts following spaceflight. While bending motions are main contributors to herniation, the effects of microgravity on the bending properties of spinal discs are unknown. Consequently, the goal of this study was to quantify the bending properties of tail discs from mice with or without microgravity exposure. Caudal motion segments from six mice returned from a 30-day Bion M1 mission and eight vivarium controls were loaded to failure in four-point bending. After testing, specimens were processed using histology to determine the location of failure, and adjacent motion segments were scanned with micro-computed tomography (μCT) to quantify bone properties. We observed that spaceflight significantly shortened the nonlinear toe region of the force-displacement curve by 32% and reduced the bending strength by 17%. Flight mouse spinal segments tended to fail within the growth plate and epiphyseal bone, while controls tended to fail at the disc-vertebra junction. Spaceflight significantly reduced vertebral bone volume fraction, bone mineral density, and trabecular thickness, which may explain the tendency of flight specimens to fail within the epiphyseal bone. Together, these results indicate that vertebral bone loss during spaceflight may degrade spine bending properties and contribute to increased disc herniation risk in astronauts. PMID:26285046

  19. The development of a mature collagen network in cartilage from human bone marrow stem cells in Transwell culture.

    PubMed

    Murdoch, Alan D; Hardingham, Timothy E; Eyre, David R; Fernandes, Russell J

    2016-03-01

    Damaged hyaline cartilage shows a limited capacity for innate repair. Potential sources of cells to augment the clinical repair of cartilage defects include autologous chondrocytes and mesenchymal stem cells. We have reported that culture of human bone marrow mesenchymal stem cells with specific growth and differentiation factors as shallow multilayers on Transwell permeable membranes provided ideal conditions for chondrogenesis. Rigid translucent cartilaginous disks formed and expressed cartilage-specific structural proteins aggrecan and type II collagen. We report here the analysis of the collagen network assembled in these cartilage constructs and identify key features of the network as it became mature during 28 days of culture. The type II collagen was co-polymerized with types XI and IX collagens in a fibrillar network stabilized by hydroxylysyl pyridinoline cross-links as in epiphyseal and hyaline cartilages. Tandem ion-trap mass-spectrometry identified 3-hydroxylation of Proline 986 and Proline 944 of the α1(II) chains, a post-translational feature of human epiphyseal cartilage type II collagen. The formation of a type II collagen based hydroxy-lysyl pyridinoline cross-linked network typical of cartilage in 28 days shows that the Transwell system not only produces, secretes and assembles cartilage collagens, but also provides all the extracellular mechanisms to modify and generate covalent cross-links that determine a robust collagen network. This organized assembly explains the stiff, flexible nature of the cartilage constructs developed from hMSCs in this culture system. PMID:26523516

  20. Osteoporosis in men with idiopathic hypogonadotropic hypogonadism

    SciTech Connect

    Finkelstein, J.S.; Klibanski, A.; Neer, R.M.; Greenspan, S.L.; Rosenthal, D.I.; Crowley, W.F. Jr.

    1987-03-01

    To assess the effect of testosterone deficiency on skeletal integrity in men, we determined bone density in 23 hypogonadal men with isolated gonadotropin-releasing hormone deficiency and compared those values with ones from controls. Cortical bone density, as assessed by single-photon absorptiometry of the nondominant radius, ranged from 0.57 to 0.86 g/cm2 (mean +/- SE, 0.71 +/- 0.02) in patients with fused epiphyses and from 0.57 to 0.67 g/cm2 (mean, 0.61 +/- 0.01) in patients with open epiphyses, both of which were significantly (p less than 0.001) lower than normal. Spinal trabecular bone density, as assessed by computed tomography, was similarly decreased (p less than 0.0001) and ranged from 42 to 177 mg K2HPO4/cm3 (mean, 112 +/- 7). Cortical bone density was at least 2 SD below normal in 16 of 23 men, and 8 men had spinal bone densities below the fracture threshold of 80 to 100 mg K2HPO4/cm3. Osteopenia was equally severe in men with immature and mature bone ages, suggesting that abnormal bone development plays an important role in the osteopenia of men with idiopathic hypogonadotropic hypogonadism.

  1. In vivo demonstration of cell types in bone that harbor epidermal growth factor receptors

    SciTech Connect

    Martineau-Doize, B.; Lai, W.H.; Warshawsky, H.; Bergeron, J.J.

    1988-08-01

    The binding and internalization of (/sup 125/I)iodoepidermal growth factor (EGF) by bone cells of the rat was demonstrated in situ by quantitative radioautography. Specific binding sites were observed on a cell profile enriched in endocytic components, including lysosome-like structures, a rough endoplasmic reticulum-rich cell profile, and a cell profile that histologically resembles an undifferentiated precursor cell. By the criteria of gel filtration and precipitability by trichloroacetic acid, most of the bound (/sup 125/I)iodo-EGF was considered intact. By morphological criteria none of the cell profiles that bound (/sup 125/I)iodo-EGF corresponded to fully formed osteoclasts or osteoblasts. The endocytic cell was found in the epiphyseal plate between the invading capillary and the transverse and longitudinal cartilage septa as well as near osteoclasts in the zone of mixed spicules. The rough endoplasmic reticulum-rich cell was present in vacated chondrocyte lacunae of the epiphyseal plate close to the metaphysis, and the poorly differentiated cell was observed between the mixed spicules of the metaphysis. Similar cell types were also found in the alveolar bone surrounding the incisors. These cells may be the origin of established bone cell lines that harbor high concentrations of EGF receptors and may also be responsible for the humoral hypercalcemia in response to the reported actions of injected EGF or transforming growth factor-alpha as well as that of malignancy.

  2. The Endocrine Role of Estrogens on Human Male Skeleton

    PubMed Central

    Rochira, Vincenzo; Kara, Elda; Carani, Cesare

    2015-01-01

    Before the characterization of human and animal models of estrogen deficiency, estrogen action was confined in the context of the female bone. These interesting models uncovered a wide spectrum of unexpected estrogen actions on bone in males, allowing the formulation of an estrogen-centric theory useful to explain how sex steroids act on bone in men. Most of the principal physiological events that take place in the developing and mature male bone are now considered to be under the control of estrogen. Estrogen determines the acceleration of bone elongation at puberty, epiphyseal closure, harmonic skeletal proportions, the achievement of peak bone mass, and the maintenance of bone mass. Furthermore, it seems to crosstalk with androgen even in the determination of bone size, a more androgen-dependent phenomenon. At puberty, epiphyseal closure and growth arrest occur when a critical number of estrogens is reached. The same mechanism based on a critical threshold of serum estradiol seems to operate in men during adulthood for bone mass maintenance via the modulation of bone formation and resorption in men. This threshold should be better identified in-between the ranges of 15 and 25 pg/mL. Future basic and clinical research will optimize strategies for the management of bone diseases related to estrogen deficiency in men. PMID:25873947

  3. Curve progression in Risser stage 0 or 1 patients after posterior spinal fusion for idiopathic scoliosis.

    PubMed

    Roberto, R F; Lonstein, J E; Winter, R B; Denis, F

    1997-01-01

    A retrospective review was performed to determine "crankshaft" prevalence in 86 immature patients who underwent posterior spinal fusion for idiopathic scoliosis. Tanner stage, chronologic age, bone age, and epiphyseal status were used as maturity indicators. Overall, 62 (72%) patients progressed < or = 10 degrees, 18 (21%) patients progressed 11-15 degrees, and six (7%) patients progressed > or = 16 degrees in the coronal plane. Tanner I patients with open triradiate cartilage had the highest rate of crankshaft occurrence; nine (75%) of 12 patients progressed >10 degrees (p < 0.05). Fifty-two percent of Tanner I, 26% of Tanner II, 11% of Tanner III, and no Tanner IV patients progressed >10 degrees (p < 0.05). Cobb angle increases of >10 degrees degrees occurred in 54% of patients with open triradiate cartilage (p < 0.05) and in 48% of patients with open capital femoral epiphyses (p < 0.05). Anterior and posterior spinal fusion should be considered in prepubertal (Tanner I) patients with open triradiate cartilage. PMID:9591972

  4. The time of onset of abnormal calcification in spondylometaepiphyseal dysplasia, short limb-abnormal calcification type.

    PubMed

    Tüysüz, Beyhan; Gazioğlu, Nurperi; Ungür, Savaş; Aji, Dolly Yafet; Türkmen, Seval

    2009-01-01

    A 1-month-old boy with shortness of extremities on prenatal US was referred to our department with a provisional diagnosis of achondroplasia. His height was normal but he had short extremities and platyspondyly, premature carpal epiphyses on both hands, and short tubular bones with irregular metaphyses on radiographs. Re-evaluation of the patient at the age of 1 year revealed very short height and premature calcification of the costal cartilages and epiphyses. Spondylometaepiphyseal dysplasia (SMED), short limb-abnormal calcification type was diagnosed. This condition is a very rare autosomal recessively inherited disorder, and most of the patients die in early childhood due to neurological involvement. At the age of 2 years and 5 months, a CT scan showed narrowing of the cervical spinal canal. One month later he died suddenly because of spinal cord injury. In conclusion early diagnosis is very important because the recurrence risk is high and patients may die due to early neurological complications. The time of onset of abnormal calcifications, a diagnostic finding of the disease, is at the age of around 1 year in most patients. When abnormal calcifications are not yet present, but radiological changes associated with SMED are present, this rare disease must be considered. PMID:19002453

  5. Alpha-gamma equalization-enhanced hand radiographic image segmentation scheme

    NASA Astrophysics Data System (ADS)

    Lin, Hsiu-Hsia; Shu, San-Ging; Kuo, Shiau-Wei; Wang, Chien-Hsuan; Chan, Ya-Ping; Yu, Shyr-Shen

    2009-10-01

    Bone age assessment of children is a procedure frequently performed in pediatric radiology. The feature extractions of metaphyseal and epiphyseal regions are crucial to automatic bone age assessment. The first step of feature extraction is applying a segmentation scheme to find exact regions of epiphysis and metaphysis. A segmentation method is normally based on both intensity information and the relative location of pixels. There is a fundamental problem; when the intensity contrast of soft tissue and bony tissue is poor, bony and soft tissue cannot easily be separated. We propose an α-gamma equalization method to increase the intensity contrast between bony and soft tissue. Sobel, two-means, Canny edge-detection, and watershed methods are applied to illustrate the effect of this method on initial segmentation. Adaptive two-means and gradient vector flow snake are adopted for the final segmentation. Experimental results reveal that α-gamma equalization-enhanced two-means initial segmentation with an adaptive two-means clustering scheme can greatly reduce the average error measurements of segmentations. These are evaluated according to the following measurements: misclassification error, edge mismatch, region nonuniformity, relative foreground area eror, and modified Hausdorff distance. Furthermore, the experimental results show that the proposed scheme provides increased stable performance for the segmentation of epiphyseal/metaphyseal regions.

  6. A Pediatric Comminuted Talar Fracture Treated by Minimal K-Wire Fixation Without Using a Tourniquet

    PubMed Central

    Inal, Sermet; Inal, Canan

    2014-01-01

    Background Pediatric comminuted talar fractures are reported to be rare, and treatment options such as minimal internal K-wire fixation without using a tourniquet to prevent avascular necrosis have not previously been investigated. Case Description We report a case of a comminuted talar body and a non-displaced neck fracture with dislocation of the tibiotalar, talonavicular and subtalar joints with bimalleolar epiphyseal fractures in an 11-year-old boy due to a fall from height. We present radiological findings, the surgical procedure and clinical outcomes of minimal internal K-wire fixation without using a tourniquet. Literature Review Avascular necrosis rates are reported to be between 0 % and 66 % after fractures of the neck of the talus and the talar body in children. The likelihood of developing avascular necrosis increases with the severity of the fracture. Clinical Relevance To avoid avascular necrosis in a comminuted talar fracture accompanied by tibiotalar, talonavicular, subtalar dislocations and bimalleolar epiphyseal fractures, a minimal internal K-wire fixation without the use of a tourniquet was performed. The outcome was evaluated by the American Orthopedic Foot and Ankle Society score (AOFAS). A score of 90 (excellent) was found at the end of the second year of follow up. Radiology revealed preservation of the joint with no evidence of avascular necrosis, and clinical findings revealed a favorable functional outcome after two years. Level of Evidence 4 PMID:25328479

  7. Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia

    PubMed Central

    Royer-Bertrand, Beryl; Castillo-Taucher, Silvia; Moreno-Salinas, Rodrigo; Cho, Tae-Joon; Chae, Jong-Hee; Choi, Murim; Kim, Ok-Hwa; Dikoglu, Esra; Campos-Xavier, Belinda; Girardi, Enrico; Superti-Furga, Giulio; Bonafé, Luisa; Rivolta, Carlo; Unger, Sheila; Superti-Furga, Andrea

    2015-01-01

    We and others have reported mutations in LONP1, a gene coding for a mitochondrial chaperone and protease, as the cause of the human CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373). Here, we delineate a similar but distinct condition that shares the epiphyseal, vertebral and ocular changes of CODAS but also included severe microtia, nasal hypoplasia, and other malformations, and for which we propose the name of EVEN-PLUS syndrome for epiphyseal, vertebral, ear, nose, plus associated findings. In three individuals from two families, no mutation in LONP1 was found; instead, we found biallelic mutations in HSPA9, the gene that codes for mHSP70/mortalin, another highly conserved mitochondrial chaperone protein essential in mitochondrial protein import, folding, and degradation. The functional relationship between LONP1 and HSPA9 in mitochondrial protein chaperoning and the overlapping phenotypes of CODAS and EVEN-PLUS delineate a family of “mitochondrial chaperonopathies” and point to an unexplored role of mitochondrial chaperones in human embryonic morphogenesis. PMID:26598328

  8. The Wnt antagonist Wif-1 interacts with CTGF and inhibits CTGF activity.

    PubMed

    Surmann-Schmitt, Cordula; Sasaki, Takako; Hattori, Takako; Eitzinger, Nicole; Schett, Georg; von der Mark, Klaus; Stock, Michael

    2012-05-01

    Wnt inhibitory factor 1 (Wif-1) is a secreted antagonist of Wnt signalling. We recently demonstrated that this molecule is expressed predominantly in superficial layers of epiphyseal cartilage but also in bone and tendon. Moreover, we showed that Wif-1 is capable of binding to several cartilage-related Wnt ligands and interferes with Wnt3a-dependent Wnt signalling in chondrogenic cells. Here we provide evidence that the biological function of Wif-1 may not be confined to the modulation of Wnt signalling but appears to include the regulation of other signalling pathways. Thus, we show that Wif-1 physically binds to connective tissue growth factor (CTGF/CCN2) in vitro, predominantly by interaction with the C-terminal cysteine knot domain of CTGF. In vivo such an interaction appears also likely since the expression patterns of these two secreted proteins overlap in peripheral zones of epiphyseal cartilage. In chondrocytes CTGF has been shown to induce the expression of cartilage matrix genes such as aggrecan (Acan) and collagen2a1 (Col2a1). In this study we demonstrate that Wif-1 is capable to interfere with CTGF-dependent induction of Acan and Col2a1 gene expression in primary murine chondrocytes. Conversely, CTGF does not interfere with Wif-1-dependent inhibition of Wnt signalling. These results indicate that Wif-1 may be a multifunctional modulator of signalling pathways in the cartilage compartment. PMID:21928342

  9. Bilateral posterior sternoclavicular dislocation.

    PubMed

    Baumann, Matthias; Vogel, Tobias; Weise, Kuno; Muratore, Tim; Trobisch, Per

    2010-07-01

    Posterior sternoclavicular dislocations are a rare injury, representing <5% of all sternoclavicular dislocations and 1 in 1600 shoulder girdle injuries. Proper imaging with computed tomography and prompt diagnosis are essential steps in preventing potentially lethal complications observed in approximately 3% of all posterior sternoclavicular dislocations. Surgical treatment is necessary if closed reduction fails. With the medial clavicular epiphysis being the last to close (between ages 22 and 25), children and adolescents typically present with epiphyseal fractures rather than joint dislocations. If closed reduction fails, open reduction and internal fixation (ORIF) should be considered in fractures, whereas complex reconstructions with tendon graft procedures have been recommended for joint dislocations. This article presents a case of a traumatic bilateral posterior sternoclavicular dislocation due to an epiphyseal fracture in a 15-year-old boy. To our knowledge, this is the first reported case of a bilateral posterior sternoclavicular dislocation. Attempted closed reduction failed with redislocation after 2 days. The patient subsequently required ORIF. This article describes our technique with anterior retraction of the medial clavicle, closure of the posterior periosteum, and ORIF using nonabsorbable sutures. Postoperative shoulder mobilization was started on day 1. At final follow-up, the patient was completely asymptomatic. PMID:20608625

  10. Metatarsal fusion pattern and developmental morphology of the Olduvai Hominid 8 foot: Evidence of adolescence.

    PubMed

    Susman, Randall L; Patel, Biren A; Francis, Megan J; Cardoso, Hugo F V

    2011-01-01

    The morphology of the Olduvai Hominid (OH) 8 foot and the sequence of metatarsal epiphyseal fusion in modern humans and chimpanzees support the hypothesis that OH 8 belonged to an individual of approximately the same relative age as the OH 7 subadult, the holotype of Homo habilis. Modern humans and chimpanzees exhibit a variety of metatarsal epiphyseal fusion patterns, including one identical to that observed in OH 8 in which metatarsal 1 fuses before metatarsals 2-5. More than the metatarsal fusion sequence, however, the principal evidence of the youthful age of OH 8 lies in the morphology of metatarsals 1, 2, and 3. Because both OH 8 and OH 7 come from the same stratum at the FLK NN type site, the most parsimonious explanation of the OH 8 and OH 7 data is that this material belonged to the same individual, as originally proposed by Louis Leakey. The proposition that OH 8 belonged to an adult is unsupported by morphology, including radiographic evidence, and the fusion sequences in human and chimpanzee skeletal material reported here and in the literature. PMID:21074829

  11. Morphological analysis of the flippers in the Franciscana dolphin, Pontoporia blainvillei, applying X-ray technique.

    PubMed

    Del Castillo, Daniela Laura; Panebianco, María Victoria; Negri, María Fernanda; Cappozzo, Humberto Luis

    2014-07-01

    Pectoral flippers of cetaceans function to provide stability and maneuverability during locomotion. Directional asymmetry (DA) is a common feature among odontocete cetaceans, as well as sexual dimorphism (SD). For the first time DA, allometry, physical maturity, and SD of the flipper skeleton--by X-ray technique--of Pontoporia blainvillei were analyzed. The number of carpals, metacarpals, phalanges, and morphometric characters from the humerus, radius, ulna, and digit two were studied in franciscana dolphins from Buenos Aires, Argentina. The number of visible epiphyses and their degree of fusion at the proximal and distal ends of the humerus, radius, and ulna were also analyzed. The flipper skeleton was symmetrical, showing a negative allometric trend, with similar growth patterns in both sexes with the exception of the width of the radius (P ≤ 0.01). SD was found on the number of phalanges of digit two (P ≤ 0.01), ulna and digit two lengths. Females showed a higher relative ulna length and shorter relative digit two length, and the opposite occurred in males (P ≤ 0.01). Epiphyseal fusion pattern proved to be a tool to determine dolphin's age; franciscana dolphins with a mature flipper were, at least, four years old. This study indicates that the flippers of franciscana dolphins are symmetrical; both sexes show a negative allometric trend; SD is observed in radius, ulna, and digit two; and flipper skeleton allows determine the age class of the dolphins. PMID:24700648

  12. Distal radius fixation through a mini-invasive approach of 15 mm. PART 1: a series of 144 cases.

    PubMed

    Lebailly, Frédéric; Zemirline, Ahmed; Facca, Sybille; Gouzou, Stéphanie; Liverneaux, Philippe

    2014-08-01

    The volar Henry approach is becoming the gold standard for distal radius fracture fixation. It decreases the incidence of nonunion, limits complications especially complex regional pain syndrome (CRPS) type I, and allows early mobilization of the wrist. Nonetheless, it has some disadvantages such as the size of the incision, which is not esthetically pleasing, and the loss of ligamentotaxis. This is why some authors have developed a mini-invasive approach. The aim of this work was to evaluate the feasibility of the anterior mini-invasive approach of 15 mm in a clinical series of 144 cases of distal radius fracture. All patients were operated under regional anesthesia using the same techniques by five surgeons of the same team. According to the AO classification, there were 83 type A fractures, 2 type B, and 59 type C. A volar plate (Step One(®), Newclip Technics™, Haute-Goulaine, France) was used in all cases. The 2 proximal metaphyseal screws and the 2 distal central epiphyseal screws were monoaxial locking. The 2 distal ulnar and radial epiphyseal screws were placed in polyaxial locking at 20° angulation maximum. Skin closure without drainage was performed. No postoperative immobilization was prescribed, and patients were encouraged to use their upper limb immediately postoperative. No postoperative physiotherapy was prescribed. The mean follow-up was 4.1 months. The final size of the incision was on average 16.1 mm. Mean pain score was 1.8. The Quick DASH score was average 25. Average range of motion was more than 85 %, and global force of the hand was 67 % compared with contralateral side. On X-ray, the mean radial slope was 22°, the mean radial tilt was 8.3°, and the mean radioulnar variance/index was -0.4 mm. There were nine cases of CRPS type I, which all resolved. Specific complications included two secondary displacements and nine tenosynovitis cases. No tendon rupture was noted. Two intra-articular distal radioulnar joint screws had to be removed at

  13. Bilateral Simultaneous Avulsion Fractures of the Proximal Tibia in a 14-Year-Old Athlete with Vitamin-D Deficiency

    PubMed Central

    Harb, Ziad; Malhi, Arfan

    2015-01-01

    Fractures involving the proximal tibial epiphysis are rare and form 0.5% of all epiphyseal injuries. The specific anatomical and developmental features of the proximal tibial epiphysis make it vulnerable to unique patterns of fractures. Vitamin-D plays a vital role in bone homeostasis and its deficiency has an impact on fracture risk and healing. We present the first ever reported case of simultaneous bilateral proximal tibial physeal fractures in an athlete with vitamin-D deficiency. Treatment consisted of plaster immobilisation, and the patient made a full recovery and returned to preinjury level of activities. We report this case for its uniqueness and as an educational review of the importance of the developmental anatomy of the proximal tibia. We review the literature and discuss how the stages of the growing physis determine the type of fracture sustained. PMID:26425381

  14. Effects of long-term rotation and hypergravity on developing rat femurs

    NASA Technical Reports Server (NTRS)

    Smith, S. D.

    1975-01-01

    Male and female Sprague-Dawley rats derived from a single mating were raised for three generations under constant centrifugation at 1.03 G (Rotation Controls) and at 2 G. When the third generation rats were 3 months old, they were sacrificed, and their femurs removed. After fixation and cleaning, the femurs were then measured for length and diameter. Then right femurs were sectioned longitudinally, left femurs transversely. After staining with Hematoxylin and Eosin, right femurs were examined for ossification patterns and left femurs were measured for cortical thickness. All rotation control rats showed marked stimulation of ossification in the femoral head, and males showed significant cortical thinning when compared to non-rotated earth gravity controls. All 2 G femurs showed decreased length and aspect (L/D) ratios, and increased cortical thickness/diameter ratios when compared to earth controls or rotation controls. Ossification of the femoral head was slightly advanced, while the distal epiphyseal plate was thinned.

  15. Juxtaphyseal Intraosseous Hemangioma of Proximal Femur causing Coxa vara and Coxa breva deformity in a growing child

    PubMed Central

    Song, Hae Ryong; Shyam, Ashok K.

    2011-01-01

    Introduction: Bony hemangiomas are rare lesions in growing skeleton. Affection of the epiphyseal plate by a bony hemangioma leading to growth retardation is rare. Case report: We report the radiological picture of a juxtaphyseal osseous hemangioma affecting the capital femoral physis leading to coxa vara and coxa breva deformity. This hemangioma is also a rarity as it has both intracortical and intra medullary components. A diagnostic and therapeutic CT guided core needle biopsy/decompression was performed to confirm the histopathological diagnosis and to decompress the lesion. Patient was treated conservatively with shoe raise and regular checkups and at two year follow-up there were no interval changes noted on the radiographs with patient completely asymptomatic. Conclusion: Juxtaphyseal hemangiomas may be amenable to needle decompression, however longer follow will be required to assess the further response.

  16. Imaging in Erdheim-Chester disease: classic features and new insights.

    PubMed

    Moulis, G; Sailler, L; Bonneville, F; Wagner, T

    2014-01-01

    Erdheim-Chester disease is a rare non-Langerhans cell histiocytosis. Osseous involvement is the most frequent feature with bilateral and symmetric osteosclerotic changes in long bone diaphyseal and metaphyseal regions, classically sparing epiphyses. 99mTc scintigraphy shows bilateral and symmetrical metaphysal and diaphyseal increased uptake in almost all the patients, even asymptomatic. Other classical features on CT-scan, very evocative of Erdheim-Chester disease, must be recognised: e.g. 'coated' aorta, 'hairy kidney' patterns. New imaging techniques such as MRI have led to a better description of cardiac and central nervous system involvements. Pachymeningitis and right atrium wall infiltration are new evocative images of this disease. Fluorodeoxyglucose Positron Emission Tomography in the diagnosis or prognosis assessment is still discussed. The objective of this review is to discuss the place of each imaging technique in Erdheim-Chester disease in 2013. PMID:24428974

  17. Changes of cell-vascular complex in zones of adaptive remodeling of the bone tissue under microgravity conditions

    NASA Astrophysics Data System (ADS)

    Rodionova, N. V.; Oganov, V. S.

    2003-10-01

    We examined the peculiarities of the structure of the blood-vascular bed and perivascular cells in zones of osteogenesis in the epiphyses and metaphises of femoral bones of rats, flown aboard the US laboratory SLS-2 for two weeks by electron microscopy and histochemistry. In zones of bone remodeling, there was a tendency for a reduction of sinusoid capillary specific volume. Endotheliocytes preserve the typical structure. In the population of perivascular cells, we discovered differentiating osteogenic cells that contained alkaline phosphomonoesterase as well as cells that don't contain this enzyme and differentiate into fibroblasts. The fibroblasts genesis in zones of adaptive remodeling of spongy bones leads to a further development of fibrous tissue that is not subject to mineralization.

  18. Tricho-rhino-phalangeal syndrome type 1 as an outcome of in vitro fertilization?

    PubMed

    Karaer, K; Yüksel, Z

    2014-01-01

    Trichorhinophalangeal syndrome type I [OMIM #190350] is an autosomal dominant disorder. Common features are: Slowly growing sparse hair, laterally thin eyebrows, bulbous tip of the nose, long philtrum, thin upper lip, protruding ears. Common skeletal anomalies include shortening of phalanges and metacarpals causing mild to severe brachydactyly, cone shaped epiphyses, hip dysplasia and short stature. Recently many reports have been published on the use of assisted reproductive technology (ART) and the increased risk of congenital major malformations or syndromes. We present a 6 years old Turkish Trichorhinophalangeal syndrome (TRPS) case of a twin pair after in vitro fertilization (IVF). TRPS with IVF pregnancy has not been reported previously. This new case reported herein will contribute to a better understanding whether ART pregnancy increases congenital malformations. PMID:24783650

  19. Schimke immune-osseous dysplasia: A case report.

    PubMed

    Bakr, Ashraf; Eid, Riham; Sarhan, Amr; Hammad, Ayman; El-Refaey, Ahmed Mahmoud; El-Mougy, Atef; Zedan, Mohammed Magdy; ElHusseini, Fatma

    2015-09-01

    Schimke immune-osseous dysplasia (SIOD) is a rare autosomal recessive disorder characterized by spondylo-epiphyseal dysplasia (SED), progressive renal insufficiency beginning as steroid-resistant nephrotic syndrome (SRNS) and defective cellular immunity. This article reports a case from Egypt with a mild form of SIOD. A 14.5-year-old male patient presented with disproportionate short stature, SRNS (focal and segmental glomerulosclerosis), laboratory evidence of cellular immune deficiency and radiologic characteristics of SED. He died at the age of 16.5 years with bone marrow failure and severe pneumonia. To the best of our knowledge, this is the first case of SIOD to be reported from Egypt. PMID:26354575

  20. Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19

    SciTech Connect

    Briggs, M.D.; Rasmussen, M.; Garber, P.; Rimoin, D.L.; Cohn, D.H. ); Weber, J.L. ); Yuen, J.; Reinker, K. )

    1993-12-01

    Pseudoachondroplasia (PSACH) is a dominantly inherited form of short-limb dwarfism characterized by dysplastic changes in the spine, epiphyses, and metaphyses and early onset osteoarthropathy. Chondrocytes from affected individuals accumulate an unusual appearing material in the rough endoplasmic reticulum, which has led to the hypothesis that a structural abnormality in a cartilage-specific protein produces the phenotype. The authors recently identified a large family with a mild form of pseudoachondroplasia. By genetic linkage to a dinucleotide repeat polymorphic marker (D19S199), they have localized the disease gene to chromosome 19 (maximum lod score of 7.09 at a recombination fraction of 0.03). Analysis of additional markers and recombinations between the linked markers and the phenotype suggests that the disease gene resides within a 6.3-cM interval in the immediate pericentromeric region of the chromosome. 39 refs., 2 figs., 1 tab.

  1. Characterization of a gene from the EDM1-PSACH region of human chromosome 19p

    SciTech Connect

    Lennon, G.G.; Giorgi, D.; Martin, J.R.

    1994-09-01

    Genetic linkage mapping has indicated that both multiple epiphyseal dysplasia (EDM1), a dominantly inherited chondrodysplasia, and pseudoachondroplasia (PSACH), a skeletal disorder associated with dwarfism, map to a 2-3 Mb region of human chromosome 19p. We have isolated a partial cDNA from this region using hybrid selection, and report on progress towards the characterization of the genomic structure and transcription of the corresponding gene. Sequence analysis of the cDNA to date indicates that this gene is likely to be expressed within extracellular matrix tissues. Defects in this gene or neighboring gene family members may therefore lead to EDM1, PSACH, or other connective tissue and skeletal disorders.

  2. New form of platyspondylic lethal chondrodysplasia.

    PubMed

    Akaba, K; Nishimura, G; Hashimoto, M; Wakabayashi, T; Kanasugi, H; Hayasaka, K

    1996-12-30

    We report on a sporadic case of hitherto unknown lethal skeletal dysplasia. The cardinal clinical manifestations consisted of frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax, and rhizomelic micromelia. Laryngoscopy and neck CT disclosed laryngeal stenosis, and brain CT demonstrated hypoplasia of the corpus callosum. Skeletal survey demonstrated hypoplasia of facial bones and short skull base, extremely severe platyspondyly, hypoplastic ilia, and delayed epiphyseal ossification and rhizomelic shortness of tubular bones. The long bones appeared overtubulated with exaggerated metaphyseal flaring. The humeri were particularly short and bowed. Bowing of the radii and ulnae with subluxation of radial heads presented as a Madelung-like deformity. Unlike the long bones, the short tubular bones were not short and normally modeled. The skeletal changes were superficially similar to those in a group of lethal platyspondylic chondrodysplasias, but were inconsistent with any known subtypes of this group or other lethal skeletal dysplasias. PMID:8989469

  3. Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population

    PubMed Central

    Woo, Eun Jin; Lee, Won-Joon; Hu, Kyung-Seok; Hwang, Jae Joon

    2015-01-01

    Skeletal dysplasias related to genetic etiologies have rarely been reported for past populations. This report presents the skeletal characteristics of an individual with dwarfism-related skeletal dysplasia from South Korea. To assess abnormal deformities, morphological features, metric data, and computed tomography scans are analyzed. Differential diagnoses include achondroplasia or hypochondroplasia, chondrodysplasia, multiple epiphyseal dysplasia, thalassemia-related hemolytic anemia, and lysosomal storage disease. The diffused deformities in the upper-limb bones and several coarsened features of the craniofacial bones indicate the most likely diagnosis to have been a certain type of lysosomal storage disease. The skeletal remains of EP-III-4-No.107 from the Eunpyeong site, although incomplete and fragmented, provide important clues to the paleopathological diagnosis of skeletal dysplasias. PMID:26488291

  4. Variability of platyspondylic lethal chondrodysplasia: another case report.

    PubMed

    Nishimura, G; Iwasawa, T; Fukuzawa, R; Hirabayashi, Y; Ito, T

    1998-07-01

    We report the radiological and histological findings of another case of platyspondylic lethal chondrodysplasia. The patient was a girl, who died of respiratory failure at 18 days of age. The radiological changes comprised moderate platyspondyly with ovoid-shaped vertebral bodies, broad and short ilia, rhizomelic shortening and mild bowing of the long bones (particularly of the humeri), relatively long short tubular bones, and retarded epiphyseal ossification and ragged metaphyses, which were most similar to those of a mild variant of this entity, the Luton type. However, the histological findings of cartilage, including hypercellularity of the reserve zone with round resting chondrocytes, relatively normal column formation of the proliferative and hypertrophic zones, and incorporation of hypertrophic cartilage with a columnar arrangement into metaphyseal bony trabeculae, resemble those of a severe variant of this entity, the Torrance type. Our observation provides an insight into the phenotypic variabilities of platyspondylic lethal chondrodysplasia. PMID:9689993

  5. Neandertal postcranial remains from the Sima de las Palomas del Cabezo Gordo, Murcia, southeastern Spain.

    PubMed

    Walker, Michael J; Ortega, Jon; López, Mariano V; Parmová, Klára; Trinkaus, Erik

    2011-04-01

    The Sima de las Palomas, southeastern Spain, has yielded a series of Neandertal postcranial remains, including immature and mature isolated elements and the fragmentary partial skeleton of a young adult (Palomas 92). The remains largely conform to the general late archaic/Neandertal morphological pattern in terms of humeral diaphyseal shape, pectoralis major tuberosity size and pillar thickness, ulnar coronoid process height, manual middle phalangeal epiphyseal breadth, manual distal phalangeal tuberosity shape and breadth, femoral diaphyseal shape, and probably body proportions. Palomas 92 contrasts with the Neandertals in having variably gracile hand remains, a more sellar trapezial metacarpal 1 facet, more anteroposteriorly expanded mid-proximal femoral diaphysis, and less robust pedal proximal phalanges. The Palomas Neandertals contrast with more northern European Neandertals particularly in various reflections of overall body size. PMID:21404228

  6. Role of oestrogen in the regulation of bone turnover at the menarche.

    PubMed

    Eastell, Richard

    2005-05-01

    The rise in oestrogen levels at menarche in girls is associated with a large reduction in bone turnover markers. This reduction reflects the closure of the epiphyseal growth plates, the reduction in periosteal apposition and endosteal resorption within cortical bone, and in bone remodelling within cortical and cancellous bone. Oestrogen promotes these changes, in part, by promoting apoptosis of chondrocytes in the growth plate and osteoclasts within cortical and cancellous bone. The period of early puberty is associated with an increased risk of fracture, particularly of the distal forearm, and this may be related to the high rate of bone turnover. A late menarche is a consistent risk factor for fracture and low bone mineral density in the postmenopausal period; models that might explain this association are considered. PMID:15845915

  7. Deletion at 12p in a Japanese child with brachydactyly overlaps the assignment locus of brachydactyly with hypertension in a Turkish family

    SciTech Connect

    Baehring, S.; Toka, H.R.; Nitz, I.

    1997-03-01

    Positional cloning is occasionally facilitated by the identification of a chromosomal aberration. We are studying a Turkish family, first described by Bilginturan et al., who have a monogenic form of hypertension, and we have reason to believe that a chromosomal aberration in a Japanese child may facilitate our cloning of the responsible gene. The hypertension gene in our family is unique in that it causes, by as yet undefined mechanisms, increased peripheral vascular resistance. Pedigree analysis of the Turkish kindred allowed us to map the gene to 12p11-p12. The kindred has a second trait, brachyclactyly, which cosegregates with the hypertension. The brachyclactyly, which involves both hands and feet, features shortened metacarpals and phalanges, as well as cone-shaped epiphyses. 11 refs., 2 figs.

  8. Bone kinetics of calcium-45 and pyrophosphate labeled with technetium-96: an autoradiographic evaluation. [Rabbits

    SciTech Connect

    Guillemart, A.; Le Pape, A.; Galy, G.; Besnard, J.C.

    1980-05-01

    The uptake of calcium-45 and of pyrophosphate labeled with the long-lived technetium-96 isotope was compared by means of liquid-emulsion microautoradiograms of the epiphyseal plates of 10-week-old rabbits, at 30 min, and 3 and 48 hr after i.v administration. For both tracers, thin sections confirm the significant role of the blood supply, especially shortly after injection. However, other more specific mechanisms lead to a mixing of the calcium in the mineral mass and to a linear deposition of technetium facing the osteoid surfaces. These findings suggest that the tropism of tin-reduced technetium pyrophosphate is not governed by the mineral pool but rather by exchanges inside a still poorly calcified organic matrix.

  9. Unusual Presentation of Giant Cell Tumor in Skeletally Immature Patient in Diaphysis of Ulna

    PubMed Central

    Patel, Maulik T; Nayak, Maunil R

    2015-01-01

    Introduction: Giant cell tumor is a locally aggressive benign tumor. Giant cell tumor of bone is characteristically found in skeletally mature patient at the end of long bones in the epiphyseal region or epiphysio-metaphyseal region. Giant cell tumor is very rare in skeletally immature patient. But we are presenting a very rare case of giant cell tumor in skeletally immature patient in diaphyseal region which is very uncommon location for giant cell tumor. From this case we concluded that irrespective of the location and skeletal maturity, a giant cell tumor should be diagnosed based on its histology because classical clinical-radiological features are not always present. Index case strengthens this view. PMID:27299037

  10. Recurrent Legg-Calvé-Perthes disease revisited: fake or reality?

    PubMed

    Ghanem, Ismat; Khalife, Rami; Haddad, Fadi; Kharrat, Khalil; Dagher, Fernand

    2005-11-01

    The objective of this study was to assess the course, the epidemiologic features and the prognosis of recurrent Legg-Calvé-Perthes disease. We reviewed seven reported cases and one personal case of recurrent Perthes' disease. In all cases, complete recovery from the previous episode was documented, and a thorough diagnostic work-up to rule out other diseases was undertaken. There were five boys. Age at onset ranged from 2 to 6 years. Five patients had bilateral involvement. Recurrence took place 1-5 years after complete healing of the initial one. Clinical and radiological pictures were similar to those found in primary Perthes' disease of the adolescent and consisted in a greater epiphyseal involvement. Recurrent Perthes' disease is very rare. We did not identify any risk factors for recurrence. A worse outcome is more closely related to an older age of the patient at recurrence than to recurrence itself. PMID:16200017

  11. Achondrogenesis type II, abnormalities of extracellular matrix.

    PubMed

    Horton, W A; Machado, M A; Chou, J W; Campbell, D

    1987-09-01

    Immune and lectin histochemical and microchemical methods were employed to study growth cartilage from seven cases of achondrogenesis type II (Langer-Saldino). The normal architecture of the epiphyseal and growth plate cartilage was replaced by a morphologically heterogeneous tissue. Some areas were comprised of vascular canals surrounded by extensive fibrous tissue and enlarged cells that had the appearance and histochemical characteristics of hypertrophic chondrocytes. Other areas contained a mixture of cells ranging from small to the enlarged chondrocytes. The extracellular matrix in the latter areas was more abundant and had characteristics of both precartilage mesenchymal matrix and typical cartilage matrix; it contained types I and II collagen, cartilage proteoglycan, fibronectin, and peanut agglutinin binding glycoconjugate(s). Peptide mapping of cyanogen bromide cartilage collagen peptides revealed the presence of types I and II collagen. These observations could be explained by a defect in the biosynthesis of type II collagen or in chondrocyte differentiation. PMID:3309860

  12. Arthroscopic Microfracture Technique for Cartilage Damage to the Lateral Condyle of the Tibia

    PubMed Central

    Kan, Hiroyuki; Arai, Yuji; Nakagawa, Shuji; Inoue, Hiroaki; Minami, Ginjiro; Ikoma, Kazuya; Fujiwara, Hiroyoshi; Kubo, Toshikazu

    2015-01-01

    This report describes the use of arthroscopic microfracture to treat a 10-year-old female patient with extensive damage to the cartilage of the lateral condyle of the tibia before epiphyseal closure, resulting in good cartilage recovery. Magnetic resonance imaging showed a defect in part of the load-bearing surface of the articular cartilage of the condyle articular of the tibia. The patient was diagnosed with damage to the lateral condyle cartilage of the tibia following meniscectomy, and arthroscopic surgery was performed. The cartilage defect measured approximately 20 × 20 mm, and microfracture was performed. Arthroscopy performed four months postoperatively showed that the cartilage defect was completely covered with fibrous cartilage, and the patient was allowed to resume sports activities. Four years postoperatively, she has had no recurrence of pain or hydrarthrosis. PMID:26345523

  13. Osteochondroma of maxillofacial region: Tumor arising from two different developmental bones.

    PubMed

    Mohanty, Sujata; Gupta, Himanshu; Dabas, Jitender; Kumar, Priyadarshan

    2016-01-01

    Osteochondromas are benign bony tumors which are commonly believed to originate by the proliferation of epiphyseal cartilage into the surrounding tissues. However, this hypothesis cannot explain the occurrence of this tumor in the intramembranous bones and soft tissue. Since most of the craniofacial bones have intramembranous origin, the occurrence of this lesion in this territory is considered rare. Contrary to the above hypothesis, Lichtenstein proposed that this entity arises from the metaplastic changes in the periosteum which explains the occurrence of this tumor in endochondral as well as intramembranous bones and also in soft tissues. Complying with Lichtenstein's hypothesis, the authors are presenting two cases of osteochondromas with one arising from the endochondral bone (the coronoid process of the mandible) and the other from an intramembranous bone (lateral pterygoid plate of the sphenoid). PMID:27601834

  14. The effect of fumonisin B1 on isolated chondrocytes and on bone formation.

    PubMed

    Wu, W; Li, G; Liu, T; Vesonder, R R

    1995-09-01

    Toxic effects of fumonisin B1 (FB1) were observed with cultured chondrocytes isolated from epiphyseal growth plates and with growing broiler chicks. Viability of chondrocytes was reduced after 48 h exposure to FB1, and half lethal concentration of FB1 was estimated to be greater than 250 microM. Increase in cell size was inhibited by as low as 25 microM FB1. Dietary inclusion of fumonisins (55 and 110 ppm) caused a reduction in body weight, increase in liver weight, and decrease in feed efficiency (P < .05). However, diarrhea and bone malformation were not observed. It is concluded that fumonisin by itself is not sufficient to cause skeletal problems in poultry. PMID:7501587

  15. Overuse and throwing injuries in the skeletally immature athlete.

    PubMed

    Hutchinson, Mark R; Ireland, Mary Lloyd

    2003-01-01

    Over 25 million children participate in school-sponsored sports, and an additional 20 million participate in extracurricular organized sports. Over the past decade, increased intensity of training, more pressure for success, new opportunities for structured play, and more organized advanced leagues and traveling teams have led to a corresponding increase in overuse injuries in the skeletally immature athlete. Perhaps the classic sports model for overuse injuries of the upper extremity is baseball. Throwing sports contribute to an increased incidence of elbow and shoulder injuries that might be related to intensity of training, throwing mechanics, and poor conditioning, including core strength. Specific areas of concern regarding overuse injuries in young athletes include such diagnoses as little leaguer's shoulder, little leaguer's elbow, osteochondritis dissecans of the elbow, tennis elbow, and distal radial epiphysitis. Ultimately, overuse injuries, and particularly physeal injuries, should be suspected in any young athlete who has pain in the upper extremity. Comparative bilateral radiographs are the rule in workup. PMID:12690838

  16. Distal radius anatomy applied to the treatment of wrist fractures by plate: a review of recent literature

    PubMed Central

    Obert, Laurent; Loisel, François; Gasse, Nicolas; Lepage, Daniel

    2015-01-01

    Few studies on the anatomy of the radial epiphysis have been published in the past 10 years. However, with the availability of new intra- and extra-medullary implants and the recent rash of avoidable iatrogenic injuries, now is the time for a more detailed description of the metaphyseal-epiphyseal regions in the distal radius. Published studies on distal radius anatomy in recent years have focused on three aspects: distal limit and watershed line, dorsal tubercle, and wrist columns. Furthermore, a fresh look at distal radius biomechanics shows that the loads experienced by the distal radius vary greatly. This information should be taken into account during volar plating of distal radius fractures. PMID:27163070

  17. Klinefelter's syndrome with renal tubular acidosis: impact on height.

    PubMed

    Jebasingh, F; Paul, T V; Spurgeon, R; Abraham, S; Jacob, J J

    2010-02-01

    A 19-year-old Indian man presented with a history of proximal muscle weakness, knock knees and gynaecomastia. On examination he had features of rickets and bilateral small testes. Karyotyping revealed a chromosomal pattern of 47,XXX, confirming the diagnosis of Klinefelter's syndrome. He was also found to have hyperchloraemic metabolic acidosis with hypokalaemia, hypophosphataemia, phosphaturia and glycosuria, which favoured a diagnosis of proximal renal tubular acidosis. Patients with Klinefelter's syndrome typically have a tall stature due to androgen deficiency, resulting in unfused epiphyses and an additional X chromosome. However, this patient had a short stature due to associated proximal renal tubular acidosis. To the best of our knowledge, this is the second case of Klinefelter's syndrome with short stature due to associated renal tubular acidosis reported in the literature. This report highlights the need to consider other causes when patients with Klinefelter's syndrome present with a short stature. PMID:20358137

  18. Football injury: a literature review *

    PubMed Central

    Kos, John J.

    1979-01-01

    A great deal of concern is recently being expressed relative to the playing of tackle football by adolescent Canadians. The purpose of this literature review is to try to summarize the important data from the available world literature. Very few Canadian statistics are available. Most of the data comes from United States experience. Tackle football injury is examined from various perspectives: 1. Equipment 2. Mechanisms of injury 3. Types of injury, with some emphasis on epiphyseal injury 4. Prevention 5. Comparison with other sports Although no “hard and fast” conclusion is drawn, the paper tends to show that: 1. Football is dangerous 2. Football is damaging to many body systems 3. Prevention of injury is difficult under present conditions 4. Alternate games, such as soccer and rugby seem to provide the same benefits with less catastrophic injuries

  19. Osteochondroma of maxillofacial region: Tumor arising from two different developmental bones

    PubMed Central

    Mohanty, Sujata; Gupta, Himanshu; Dabas, Jitender; Kumar, Priyadarshan

    2016-01-01

    Osteochondromas are benign bony tumors which are commonly believed to originate by the proliferation of epiphyseal cartilage into the surrounding tissues. However, this hypothesis cannot explain the occurrence of this tumor in the intramembranous bones and soft tissue. Since most of the craniofacial bones have intramembranous origin, the occurrence of this lesion in this territory is considered rare. Contrary to the above hypothesis, Lichtenstein proposed that this entity arises from the metaplastic changes in the periosteum which explains the occurrence of this tumor in endochondral as well as intramembranous bones and also in soft tissues. Complying with Lichtenstein's hypothesis, the authors are presenting two cases of osteochondromas with one arising from the endochondral bone (the coronoid process of the mandible) and the other from an intramembranous bone (lateral pterygoid plate of the sphenoid). PMID:27601834

  20. Muscle and bone plasticity after spinal cord injury: Review of adaptations to disuse and to electrical muscle stimulation

    PubMed Central

    Dudley-Javoroski, Shauna; Shields, Richard K.

    2009-01-01

    The paralyzed musculoskeletal system retains a remarkable degree of plasticity after spinal cord injury (SCI). In response to reduced activity, muscle atrophies and shifts toward a fast-fatigable phenotype arising from numerous changes in histochemistry and metabolic enzymes. The loss of routine gravitational and muscular loads removes a critical stimulus for maintenance of bone mineral density (BMD), precipitating neurogenic osteoporosis in paralyzed limbs. The primary adaptations of bone to reduced use are demineralization of epiphyses and thinning of the diaphyseal cortical wall. Electrical stimulation of paralyzed muscle markedly reduces deleterious post-SCI adaptations. Recent studies demonstrate that physiological levels of electrically induced muscular loading hold promise for preventing post-SCI BMD decline. Rehabilitation specialists will be challenged to develop strategies to prevent or reverse musculoskeletal deterioration in anticipation of a future cure for SCI. Quantifying the precise dose of stress needed to efficiently induce a therapeutic effect on bone will be paramount to the advancement of rehabilitation strategies. PMID:18566946

  1. The CHILD syndrome. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects.

    PubMed

    Happle, R; Koch, H; Lenz, W

    1980-06-01

    The term CHILD syndrome is proposed as an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects. The syndrome is characterized by unilateral erythema and scaling, with a distinct demarcation in the middle of the trunk. The dermatosis is either present at birth or develops during the first weeks of life. Ipsilateral limb defects may vary from hypoplasia of some fingers to complete absence of an extremity. In addition, ipsilateral hypoplasia of other parts of the skeleton, as well as defects of the brain and the viscera are found. In some cases, ipsilateral punctate epiphyseal calcifications have been observed. Two further cases of this syndrome are reported, and a review of 18 previous observations is presented. The ratio of females to males is 19 : 1. Apparently, the CHILD syndrome is genetically determined. Arguments are presented in favor of the hypothesis that the conditions is due to an X-linked dominant gene lethal in hemizygous males. PMID:7408908

  2. Effects of radiation therapy on skeletal growth in childhood

    SciTech Connect

    Goldwein, J.W. )

    1991-01-01

    Ionizing radiation was used to treat childhood cancer long before the advent of chemotherapy, and it took little time for physicians to appreciate the deleterious effects it had on skeletal growth. The cause of this complication results predominantly from alteration of chondroblastic activity. This may stem directly from irradiation at the epiphyseal plate or indirectly from irradiation of glands that secrete growth-mediating hormones. The complication can go far beyond the obvious physical afflictions and extend into the psychologic domain, rendering deeper, more permanent scars. Presently, many of these effects are predictable, reducible, and treatable without compromising the cure that so often depends on the use of irradiation. Because of the complexities of childhood cancer therapy, strategies aimed at diminishing these effects are challenging. It is imperative that these effects be understood so that they can be reduced in current patients and prevented in future patients.33 references.

  3. Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population.

    PubMed

    Woo, Eun Jin; Lee, Won-Joon; Hu, Kyung-Seok; Hwang, Jae Joon

    2015-01-01

    Skeletal dysplasias related to genetic etiologies have rarely been reported for past populations. This report presents the skeletal characteristics of an individual with dwarfism-related skeletal dysplasia from South Korea. To assess abnormal deformities, morphological features, metric data, and computed tomography scans are analyzed. Differential diagnoses include achondroplasia or hypochondroplasia, chondrodysplasia, multiple epiphyseal dysplasia, thalassemia-related hemolytic anemia, and lysosomal storage disease. The diffused deformities in the upper-limb bones and several coarsened features of the craniofacial bones indicate the most likely diagnosis to have been a certain type of lysosomal storage disease. The skeletal remains of EP-III-4-No.107 from the Eunpyeong site, although incomplete and fragmented, provide important clues to the paleopathological diagnosis of skeletal dysplasias. PMID:26488291

  4. Osgood Schlatter lesion: histologic features of slipped anterior tibial tubercle.

    PubMed

    Falciglia, F; Giordano, M; Aulisa, A G; Poggiaroni, A; Guzzanti, V

    2011-01-01

    No study reports the histological features of the various zone of the anterior tubercle of the tibia in the different stages of the Osgood-Schlatter (O-S) lesion. For this reason we carried on an histological study. Specimens were taken from 13 patients with O-S lesion prior to surgery. In 4 cases in the apophyseal stage lesions were present in an altered fibrocartilage anterior to the ossification centre. In 9 cases in the epiphyseal stage varying degrees of reparative tissues were observed in the bed of the fragment of the secondary ossification centre. In 3 of them a zone of lesion was observed within the fibrocartilage anterior to the ossification centre. These results suggest that the slippage of the patellar tendon insertion may be progressive and caused by pathological fibrocartilage. PMID:21669134

  5. 'Hip' pain.

    PubMed

    Zacher, Josef; Gursche, Angelika

    2003-02-01

    'Hip' pain is usually located in the groin, upper thigh or buttock and is a common complaint. Slipped capital femoral epiphysis, avascular femoral head necrosis and apophyseal avulsion are the most common diagnoses in childhood and adolescents. Strains and fractures are common in sport-active adults. Osteoarthritis occurs in middle-aged and older adults. Trauma may result in femoral head fracture or typical muscle and tendon sprains and bursitis. Septic or inflammatory arthritis can occur at every age. Septic arthritis, fractures and acute epiphyseal slipping are real emergency cases. Congenital dysplasia of the hip joint may lead to labral tears and early osteoarthritis. The most important hip problems in children, adolescents, adult and older people are discussed; these problems originate from intra-articular disorders and the surrounding extra-articular soft tissues. Medical history, clinical examination and additional tests, including imaging, will be demonstrated. Principles of treatment are given for specific disorders. PMID:12659822

  6. Tumeur à cellules géantes du fémur proximal traitée par arthroplastie totale de hanche

    PubMed Central

    Mhammdi, Younes; Kharmaz, Mohamed

    2016-01-01

    The authors report the case of a giant cell tumor grade 1 of the proximal femur, diagnosed in a young patient of 18 years. The diagnosis was suspected on a standard x-ray complemented by MRI, it was confirmed on histological examination after biopsy. The tumor was a metaphyseal-epiphyseal location above the level of the femoral cut on preoperative planning. The management had combined two surgical techniques, with a marginal resection of the femoral head and neck, and femoral curettage-filling of the metaphyseal region with implantation of a total cemented hip prosthesis. After 2 years of follow up, the result is very satisfactory with good functional recovery and no signs of recurrence. PMID:27279937

  7. Role of dehydroepiandrosterone in management of glucocorticoid-induced secondary osteoporosis in female rats.

    PubMed

    Ahmed, Hanaa H; Morcos, Nadia Y S; Eskander, Emad F; Seoudi, Dina M S; Shalby, Aziza B

    2012-09-01

    The current study aimed to evaluate the potential role of dehydroepiandrosterone (DHEA) in the protection and intervention of glucocorticoid-induced secondary osteoporosis in female rats. For this purpose this study was conducted on five groups of female Sprague Dawley rats which were classified into: (1) negative control group received saline as vehicle, (2) osteoporotic group orally administered with prednisolone (5 mg/kg b.wt.) daily for six months, (3) positive control group orally administered with DHEA (250 mg/kg b.wt.) three times weekly for six months, (4) protective group orally administered with prednisolone daily with simultaneous oral administration of DHEA three times weekly for six months and (5) therapeutic group orally administered with prednisolone daily for six months then orally administered with DHEA three times weekly for other six months. The obtained data revealed that prednisolone administration resulted in significant decrease in serum osteocalcin (OC), 1,25-dihydroxyvitamin D(3) (1,25-(OH)(2) D(3)) and osteoprotegerin (OPG) levels accompanied with significant increase in serum parathyroid hormone (PTH) and receptor activator nuclear factor kappa B ligand (RANKL) levels. Histopathological investigation of left femur bone showed that prednisolone administration produced compression of the reduced articular surface and atrophy of the epiphyseal bone. On the other hand, DHEA supplementation to osteoporotic rats increased serum OC, 1,25-(OH)(2) D(3) and OPG levels while decreased serum PTH and RANKL levels. Moreover, DHEA administration resulted in restoration of intact epiphyseal bony structure and articular surface. In conclusion, DHEA via its control on glucocorticoid activity and androgenic action provided potent effect on bone. PMID:21310600

  8. Rampant infections of bone marrow stem cell niches as triggers for spondyloarthropathies and rheumatoid arthritis.

    PubMed

    Berthelot, Jean-Marie; Sibilia, Jean

    2016-01-01

    Tropheryma Whipplei can induce rheumatism mimicking SpA or RA, but even more rampant bacterial/viral infections in epiphyseal bones could also contribute to the onset of RA and SpA. Indeed, as bone marrow stem cell niches are enriched in Tregs and myeloid derived suppressor cells, these areas are favourable for the persistence of quiescent viruses and/or dormant bacteria. This review focuses on the possibility that such silent infections of bone marrow stem cell niches might contribute to the pathogenesis of SpA and RA, at least during their onset. Some infections can affect the bone marrow mesenchymal stem cells, which can transmit these pathogens to their progeny. Transient but repeated revivals of viruses or dormant bacteria could promote the conversion of marrow regulatory T cells into effector phenotypes, leading to autoimmunity in the epiphyseal bone marrow, entheses and adjacent synovium. This scenario would also fit the flares of rheumatic disorders and explain why some joints or enthuses can be severely involved whereas their neighbours remain intact. The efficiency of anti-TNF drugs does not rule out a role of persistent infections in SpA and RA. These drugs do not affect chlamydial clearance, or the reactivation of latent Salmonella enterica serovar Typhimurium in mice or Epstein-Barr virus in humans. Anti-TNF might even prevent, rather than foster, the revival of dormant bacteria and viruses in marrow stem cell niches. Indeed, anti-TNF enhance the maturation of the immunosuppressive immature myeloid cells around stem cells into dendritic cells and macrophages, thus restoring immune responses in these areas. PMID:26886813

  9. The ultrastructure of the organic phase associated with the inorganic substance in calcified tissues.

    PubMed

    Bonucci, E; Silvestrini, G; Di Grezia, R

    1988-08-01

    An organic phase is closely associated with the mineral substance is all calcified matrices, where it can be demonstrated as crystal-bound proteins by biochemical methods and as crystal ghosts by electron microscopy. Interest in crystal ghosts derives chiefly from the observation that they have the same shape, arrangement, and orientation as inorganic crystallites, which suggests they may have a role in their formation. Histochemically, crystal ghosts of epiphyseal cartilage react with colloidal iron (pH 2.0), acidic phosphotungstic acid, ruthenium red, and a number of cations including calcium, barium, magnesium, lanthanum, strontium, and terbium chloride. Their reactivity is removed by methylation and only incompletely restored by saponification. Moreover, the crystal ghosts located at the periphery of the calcified areas contain vic-glycol groups, as shown by their reactivity with periodic acid-silver nitrate and periodic acid-thiosemicarbazide-osmium. All these reactions show that the crystal ghosts of epiphyseal cartilage contain acidic, probably sulfate groups and, at least initially, vic-glycol groups. Their reactivity decreases as the calcification process is completed. Although the available data are not sufficient to allow a full understanding of the nature and function of these structures, they seem to play an important role in calcification. The hypothesis is presented that crystal ghosts are preformed in calcifying matrices and are activated by the unmasking of the reactive groups in their polymeric molecule; the unmasked groups then link up with inorganic ions in such a way to form organic-inorganic structures the inorganic ions of which are arranged in an apatitelike configuration and the filamentlike shape of which is the same as that of the polymeric molecule. PMID:3042232

  10. Corrections of diverse forms of lower limb deformities in patients with mucopolysaccharidosis type IVA (Morquio syndrome)

    PubMed Central

    Al Kaissi, Ali; Kenis, Vladimir; Melchenko, Eugeniy; Ghachem, Maher Ben; Csepan, Robert; Grill, Franz; Ganger, Rudolf

    2016-01-01

    Background: Thoracolumbar kyphosis has been considered as the first presenting deformity and is often a key diagnostic clue noted in children with mucopolysaccharidosis (MPS) type IV (Morquio's syndrome). However, we observed that the progressive irregularities of the epiphyses of the long bones were the most prominent skeletal pathology, causing effectively the development of diverse forms of lower limbs deformities with extreme variation in age of onset. Materials and Methods: Ten patients (seven children and three adults) with an average age of 15 years have been enrolled in this study. Age of diagnosis of MPS IVA has a variable age of onset and a MISLEADING rate of severity. Hip dislocations, genu valgum, protrusio acetabuli and osteoarthritis were the most common lower limbs deformities in these patients. Clinical and radiographic phenotypes were the baseline tools of documentation. Urinary screening and genotypic characterizations have been applied accordingly. Results: Combined pelvic and femoral procedures for hip dislocation, epiphysiodeses and supracondylar osteotomy for genu valgum and hip arthroplasty for protrusio acetabuli have been performed. All patients manifested insufficient activity of N-acetylgalactosamine-6-sulphate sulphatase, an enzyme that degrades keratin sulphate and chondroitin-6 sulphate. Conclusion: The extensive clinical heterogeneity contributed significantly in the delay in establishing the diagnosis particularly in adult patients with MPS IV. The epiphyseal irregularities of the long bones and the progressive flattening pathology of MPS IV A were the reason to falsely diagnose some patients as spondyloepiphyseal dysplasia congenital and/or tarda. Proximal femoral osteotomy, realignment osteotomy and total hip arthroplasty have been performed for coxa vara, genu valgum and protrusio acetabuli, respectively, in children and adult group of patients. The importance of early diagnosis on MPS IV A is to receive enzyme replacement therapy

  11. Ultrasound Examination of Pediatric Musculoskeletal Diseases and Neonatal Spine.

    PubMed

    Karnik, Alka Sudhir; Karnik, Alpana; Joshi, Alpana

    2016-06-01

    Ultrasound (US) is a simple, non-invasive imaging modality which allows high-resolution imaging of the musculoskeletal (MSK) system. Its increasing popularity in pediatrics is due to the fact that it does not involve radiation, has an ability to visualize non-ossified cartilaginous and vascular structures, allows dynamic imaging and quick contralateral comparison. US is the primary imaging modality in some pediatric MSK conditions like infant hip in developmental dysplasia (DDH), hip joint effusion, epiphyseal trauma and evaluation of the neonatal spine. US is the modality of choice in infants with DDH, both in the initial evaluation and post-treatment follow-up. US has a sensitivity equivalent to MRI in evaluation of the neonatal spine in experienced hands and is a good screening modality in neonates with suspected occult neural tube defects. In other MSK applications, it is often used for the initial diagnosis or in addition to other imaging modalities. In trauma and infections, US can often detect early and subtle soft tissue abnormalities and a quick comparison with the contralateral side aids in diagnoses. Dynamic imaging is crucial in evaluating congenital instabilities and dislocations, soft tissue and ligamentous injuries, epiphyseal injuries and fracture separations. High-resolution imaging along with color Doppler (CD) is useful in the characterization of soft tissue masses. This article reviews the applications of US in pediatric MSK with emphasis on conditions where it is a primary modality. Limitations of US include inability to penetrate bone, hence, limited diagnosis of intraosseous pathology and operator dependency. PMID:26830280

  12. Pharmacological inhibition of lysosomes activates the MTORC1 signaling pathway in chondrocytes in an autophagy-independent manner

    PubMed Central

    Newton, Phillip T; Vuppalapati, Karuna K; Bouderlique, Thibault; Chagin, Andrei S

    2015-01-01

    Mechanistic target of rapamycin (serine/threonine kinase) complex 1 (MTORC1) is a protein-signaling complex at the fulcrum of anabolic and catabolic processes, which acts depending on wide-ranging environmental cues. It is generally accepted that lysosomes facilitate MTORC1 activation by generating an internal pool of amino acids. Amino acids activate MTORC1 by stimulating its translocation to the lysosomal membrane where it forms a super-complex involving the lysosomal-membrane-bound vacuolar-type H+-ATPase (v-ATPase) proton pump. This translocation and MTORC1 activation require functional lysosomes. Here we found that, in contrast to this well-accepted concept, in epiphyseal chondrocytes inhibition of lysosomal activity by v-ATPase inhibitors bafilomycin A1 or concanamycin A potently activated MTORC1 signaling. The activity of MTORC1 was visualized by phosphorylated forms of RPS6 (ribosomal protein S6) and EIF4EBP1, 2 well-known downstream targets of MTORC1. Maximal RPS6 phosphorylation was observed at 48-h treatment and reached as high as a 12-fold increase (p < 0.018). This activation of MTORC1 was further confirmed in bone organ culture and promoted potent stimulation of longitudinal growth (p < 0.001). Importantly, the same effect was observed in ATG5 (autophagy-related 5)-deficient bones suggesting a macroautophagy-independent mechanism of MTORC1 inhibition by lysosomes. Thus, our data show that in epiphyseal chondrocytes lysosomes inhibit MTORC1 in a macroautophagy-independent manner and this inhibition likely depends on v-ATPase activity. PMID:26259639

  13. Effects of Neonatal Enzyme Replacement Therapy and Simvastatin Treatment on Cervical Spine Disease in Mucopolysaccharidosis I Dogs

    PubMed Central

    Chiaro, Joseph A; O’Donnell, Patricia; Shore, Eileen M; Malhotra, Neil R; Ponder, Katherine P; Haskins, Mark E; Smith, Lachlan J

    2014-01-01

    Mucopolysaccharidosis I (MPS I) is a lysosomal storage disease characterized by deficient α-L-iduronidase activity, leading to the accumulation of poorly degraded glycosaminoglycans (GAGs). Children with MPS I exhibit high incidence of spine disease, including accelerated disc degeneration and vertebral dysplasia, which in turn lead to spinal cord compression and kypho-scoliosis. In this study we investigated the efficacy of neonatal enzyme replacement therapy (ERT), alone or in combination with oral simvastatin (ERT+SIM) for attenuating cervical spine disease progression in MPS I, using a canine model. Four groups were studied: normal controls; MPS I untreated; MPS I ERT treated; and MPS I ERT+SIM treated. Animals were euthanized at one year-of-age. Intervertebral disc condition and spinal cord compression were evaluated from MRIs and plain radiographs, vertebral bone condition and odontoid hypoplasia were evaluated using microcomputed tomography, and epiphyseal cartilage to bone conversion was evaluated histologically. Untreated MPS I animals exhibited more advanced disc degeneration and more severe spinal cord compression than normal animals. Both treatment groups resulted in partial preservation of disc condition and cord compression, with ERT+SIM not significantly better than ERT alone. Untreated MPS I animals had significantly lower vertebral trabecular bone volume and mineral density, while ERT treatment resulted in partial preservation of these properties. ERT+SIM treatment demonstrated similar, but not greater, efficacy. Both treatment groups partially normalized endochondral ossification in the vertebral epiphyses (as indicated by absence of persistent growth plate cartilage), and odontoid process size and morphology. These results indicate that ERT begun from a very early age attenuates the severity of cervical spine disease in MPS I, particularly for the vertebral bone and odontoid process, and that additional treatment with simvastatin does not

  14. Suppressed osteoclast differentiation at the chondro-osseous junction mediates endochondral ossification retardation in long bones of Wistar fetal rats with prenatal ethanol exposure.

    PubMed

    Pan, Zhengqi; Zhang, Xianrong; Shangguan, Yangfan; Hu, Hang; Chen, Liaobin; Wang, Hui

    2016-08-15

    Prenatal ethanol exposure (PEE) inhibits longitudinal growth of fetal bones, but the underlying mechanisms remain unknown. In this study, we aimed to investigate how PEE induces the retardation of long bone development in fetal rats. Pregnant Wistar rats were treated with ethanol or distilled water (control group) by gavage from gestational day (GD) 9 to 20. Fetuses were delivered by cesarean section on GD20. Fetal sera were collected for assessing corticosterone (CORT) level. Fetal long bones were harvested for histochemical, immunohistochemical and gene expression analysis. Primary chondrocytes were treated with ethanol or CORT for analyzing genes expression. PEE fetuses showed a significant reduction in birth weight and body length. The serum CORT concentration in PEE group was significantly increased, while the body weight, body length and femur length all were significantly decreased in the PEE group. The length of the epiphyseal hypertrophy zone was enlarged, whereas the length of the primary ossification center was significantly reduced in PEE fetuses. TUNEL assay showed reduced apoptosis in the PEE group. Further, the gene expression of osteoprotegerin (OPG) was markedly up-regulated. In vitro experiments showed that CORT (but not ethanol) treatment significantly activated the expression of OPG, while the application of glucocorticoid receptor inhibitor, mifepristone, attenuated these change induced by CORT. These results indicated that PEE-induced glucocorticoid over-exposure enhanced the expression of OPG in fetal epiphyseal cartilage and further lead to the suppressed osteoclast differentiation in the chondro-osseous junction and consequently inhibited the endochondral ossification in long bones of fetal rats. PMID:27338645

  15. Ectopic bone formation and chondrodysplasia in transgenic mice carrying the rat C3(1)/T{sub AG} fusion gene

    SciTech Connect

    Green, J.E.; Maroulakou, I.G.; Anver, M.

    1994-09-01

    Transgenic mice expressing the SV40 large T-antigen (T{sup AG}) under the regultory control of the hormone-responsive rat C3(1) prostatein promoter develop unusual bone and cartilage lesions, as well as ectopic bone and cartilage formation. Two lines of transgenic animals have been propagated in which the expression of the transgene in chondrocytes results in a mild to moderate generalized disorganization of cartilage growth which appears to affect multiple tissues, including the trachea, ear pinna and articular cartilage. The epiphyseal plates are also affected with normal architecture of the zones of proliferation and maturation, but marked elongation of the zone of hypertrophy. Immunocytochemistry demonstrates that expression of T{sup AG} is limited to the zone of hypertropny in the epiphyseal plates, suggesting that the chondrocytes become hormone-responsive at this particular stage of differentiation. Normal mineralization and trabecular formation in long bone appears to occur. Ectopic bone and cartilage formation occurs in the foot pads of the fore- and hind- feet over the course of several months. This is preceded by proliferation of sweat gland epithelial cells followed by the appearance of nodules of cartilage and bone. The nodules are closely associated with proliferating epithelium but are not contiguous with bony structures normally found in the feet. The roles of BMP`s, growth factors, oncogenes and hormones in the development of these lesions will be presented. These transgenic animals may provide new insights into hormone-responsiveness of chondrocytes, as well as factors involved in the processes of bone and cartilage differentiation and growth. These transgenic animals may serve as a useful model for human heterotopic bone formation.

  16. Levels of Evidence in the Treatment of Slipped Capital Femoral Epiphysis: A Systematic Review.

    PubMed

    Moriarity, Andrew; Kennedy, Jim; Baker, Joe; Kiely, Pat

    2016-06-27

    The primary aim of this study was to analyze the current level of evidence available on the surgical management of Slipped Capital Femoral Epiphysis (SCFE). Secondary aims were to correlate the level of evidence with the impact factor of the journal to evaluate the level of evidence over time, and to evaluate the geographic distribution of the studies. Therapeutic studies published in English between January 1991 and August 2014 that reported on SCFE were identified via electronic search was performed using the databases PubMed, EMBASE, and the Cochrane Library. The search terms used included: Slipped capital femoral epiphyses OR SCFE OR Slipped upper femoral epiphyses OR SUFE AND Management OR Treatment. Correlation between the level of evidence and the impact factor of the journal were analyzed together with linear regression models to reveal any significant trends over time. A total of 1516 studies were found, of which 321 were included in the final analysis. The most frequent study type was the case series (51.1%) followed by case reports (22.4%) and expert opinion (14.0%). Randomized control trial accounted for only 0.6%. The Journal of Pediatric Orthopedics (American) had the most studies (22.6%) and the highest number of level 2 (n=1) and level 3 (n=15) type evidence. There was no progression of level of evidence over time. There was no correlation between level of evidence and impact factor of journal. The majority of therapeutic studies on SCFE are of low level of evidence. High-level RCTs are difficult to perform in pediatric orthopedic surgery, however the management of SCFE would benefit from well-designed, multicenter, clinical RCTs to advance evidence-based practice. PMID:27433299

  17. Osteochondritis dissecans and Osgood Schlatter disease in a family with Stickler syndrome

    PubMed Central

    Al Kaissi, Ali; Klaushofer, Klaus; Grill, Franz

    2009-01-01

    Purpose Stickler syndrome is among the most common autosomal dominant connective tissue disorders but is often unrecognised and therefore not diagnosed by clinicians. Despite much speculation, the cause of osteochondrosis in general and osteochondritis dissecans (OCD) and Osgood Schlatter syndrome (OSS) in particular remain unclear. Etiological understanding is essential. We describe a pair of family subjects presented with OCD and OSS as a symptom complex rather than a diagnosis. Methods Detailed clinical and radiographic examinations were undertaken with emphasis on the role of MRI imaging. Magnetic resonance imaging may allow early prediction of articular lesion healing potential in patients with Stickler syndrome. Results The phenotype of Stickler syndrome can be diverse and therefore misleading. The expectation that the full clinical criteria of any given genetic disorder such as Stickler syndrome will always be present can easily lead to an underestimation of these serious inheritable disorders. We report here two family subjects, a male proband and his aunt (paternal sister), both presented with the major features of Stickler syndrome. Tall stature with marfanoid habitus, astigmatism/congenital vitreous abnormality and submucus cleft palate/cleft uvula, and enlarged painful joints with early onset osteoarthritis. Osteochondritis dissecans (OCD) and Osgood Schlatter syndrome (OSS) were the predominating joint abnormalities. Conclusion We observed that the nature of the articular and physeal abnormalities was consistent with a localised manifestation of a more generalised epiphyseal dysplasia affecting the weight-bearing joints. In these two patients, OCD and OSS appeared to be the predominant pathologic musculoskeletal consequences of an underlying Stickler's syndrome. It is empirical to consider generalised epiphyseal dysplasia as a major underlying causation that might drastically affect the weight-bearing joints. PMID:19193224

  18. Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients.

    PubMed

    Ali, Bassam R; Xu, Huifang; Akawi, Nadia A; John, Anne; Karuvantevida, Noushad S; Langer, Ruth; Al-Gazali, Lihadh; Leitinger, Birgit

    2010-06-01

    Spondylo-meta-epiphyseal dysplasia (SMED) with short limbs and abnormal calcifications (SMED-SL) is a rare, autosomal recessive human growth disorder, characterized by disproportionate short stature, short limbs, short broad fingers, abnormal metaphyses and epiphyses, platyspondyly and premature calcifications. Recently, three missense mutations and one splice-site mutation in the DDR2 gene were identified as causative genetic defects for SMED-SL, but the underlying cellular and biochemical mechanisms were not explored. Here we report a novel DDR2 missense mutation, c.337G>A (p.E113K), that causes SMED-SL in two siblings in the United Arab Emirates. Another DDR2 missense mutation, c.2254C>T (p.R752C), matching one of the previously reported SMED-SL mutations, was found in a second affected family. DDR2 is a plasma membrane receptor tyrosine kinase that functions as a collagen receptor. We expressed DDR2 constructs with the identified point mutations in human cell lines and evaluated their localization and functional properties. We found that all SMED-SL missense mutants were defective in collagen-induced receptor activation and that the three previously reported mutants (p.T713I, p.I726R and p.R752C) were retained in the endoplasmic reticulum. The novel mutant (p.E113K), in contrast, trafficked normally, like wild-type DDR2, but failed to bind collagen. This finding is in agreement with our recent structural data identifying Glu113 as an important amino acid in the DDR2 ligand-binding site. Our data thus demonstrate that SMED-SL can result from at least two different loss-of-function mechanisms: namely defects in DDR2 targeting to the plasma membrane or the loss of its ligand-binding activity. PMID:20223752

  19. Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter.

    PubMed

    Rossi, A; Bonaventure, J; Delezoide, A L; Cetta, G; Superti-Furga, A

    1996-08-01

    Achondrogenesis type 1B is an autosomal recessive, lethal chondrodysplasia caused by mutations in the gene encoding a sulfate/chloride antiporter of the cell membrane (Superti-Furga, A., Hästbacka, J., Wilcox, W. R., Cohn, D. H., van der Harten, J. J., Rossi, A., Blau, N., Rimoin, D. L., Steinmann, B., Lander, E. S., and Gitzelmann, R.(1996) Nat. Genet. 12, 100-102). To ascertain the consequences of the sulfate transport defect on proteoglycan synthesis, we studied the structure and sulfation of proteoglycans in cartilage tissue and in fibroblast and chondrocyte cultures from a fetus with achondrogenesis 1B. Proteoglycans extracted from epiphyseal cartilage and separated on agarose gels migrated more slowly than controls and stained poorly with alcian blue. The patient's cultured cells showed reduced incorporation of [35S]sulfate relative to [3H]glucosamine, impaired uptake of sulfate, and higher resistance to chromate toxicity compared to control cells. Epiphyseal chondrocytes cultured in alginate beads synthesized proteoglycans of normal molecular size as judged by gel filtration chromatography, but undersulfated as judged by ion exchange chromatography and by the amount of nonsulfated disaccharide. High performance liquid chromatography analysis of chondroitinase-digested proteoglycans showed that sulfated disaccharides were present, although in reduced amounts, indicating that at least in vitro, other sources of sulfate can partially compensate for sulfate deficiency. A t1475c transition causing a L483P substitution in the eleventh transmembrane domain of the sulfate/chloride antiporter was present on both alleles in the patient who was the product of a consanguineous marriage. The results indicate that the defect of sulfate transport is expressed in both chondrocytes and fibroblasts and results in the synthesis of proteoglycans bearing glycosaminoglycan chains which are poorly sulfated but of normal length. PMID:8702490

  20. A serum component mediates food restriction-induced growth attenuation.

    PubMed

    Pando, Rakefet; Shtaif, Biana; Phillip, Moshe; Gat-Yablonski, Galia

    2014-03-01

    Proper nutrition in terms of calories and essential food components is required to maximize longitudinal growth in children. Our previous study showed that prepubertal male rats subjected to 10 days of 40% food restriction (RES) exhibited a dramatic reduction in weight and epiphyseal growth plate height, as well as changes in gene expression and microRNAs (miRNAs) in the epiphyseal growth plate. These findings reversed rapidly after renewal of the regular food supply (catch-up [CU]). To further elucidate the mechanisms underlying the nutrition-growth association, serum collected from the RES and CU rats and control rats fed ad libitum (AL) was added to the culture medium of the chondrocyte cell line ATDC5 (instead of fetal calf serum). Serum from the RES group induced a reduction in cell viability (25%, P < .05) concomitant with an increase in cell differentiation compared with that for the AL group serum. The most interesting observation, in our opinion, was the significant reduction in the expression of specific miRNAs, including the chondro-specific miR-140. These effects were not observed for serum from refed (CU) rats. Serum levels of IGF-I, leptin, and fibroblast growth factor 21 were reduced by food restriction. The addition of IGF-I and leptin to the culture increased cell viability, whereas fibroblast growth factor 21 reduced it, suggesting the involvement of IGF-I, leptin, and possibly other still unidentified serum factors in chondrocyte cell growth. In conclusion, specific miRNAs respond to nutritional cues, and these effects are mediated by serum-borne factors. These results may promote the development of superior interventions for children with malnutrition and growth abnormalities. PMID:24456162

  1. Pathogenesis of lumbar spine disease in mucopolysaccharidosis VII

    PubMed Central

    Smith, Lachlan J; Baldo, Guilherme; Wu, Susan; Liu, Yuli; Whyte, Michael P; Giugliani, Roberto; Elliott, Dawn M; Haskins, Mark E; Ponder, Katherine P

    2012-01-01

    Mucopolysaccharidosis type VII (MPS VII) is characterized by deficient β-glucuronidase (GUSB) activity, which leads to accumulation of chondroitin, heparan and dermatan sulfate glycosaminoglycans (GAGs), and multisystemic disease. MPS VII patients can develop kypho-scoliotic deformity and spinal cord compression due to disease of intervertebral discs, vertebral bodies, and associated tissues. We have previously demonstrated in MPS VII dogs that intervertebral discs degenerate, vertebral bodies have irregular surfaces, and vertebral body epiphyses have reduced calcification, but the pathophysiological mechanisms underlying these changes are unclear. We hypothesized that some of these manifestations could be due to upregulation of destructive proteases, possibly via the binding of GAGs to Toll-like receptor 4 (TLR4), as has been proposed for other tissues in MPS models. In this study, the annulus fibrosus of the intervertebral disc of 6 month-old MPS VII dogs had cathepsin B and K activities that were 117- and 2-fold normal, respectively, which were associated with elevations in mRNA levels for cathepsins as well as TLR4. The epiphyses of MPS VII dogs had a marked elevation in mRNA for the cartilage-associated gene collagen II, consistent with a developmental delay in the conversion of the cartilage to bone in this region. A spine from a human patient with MPS VII exhibited similar increased cartilage in the vertebral bodies adjacent to the end plates, disorganization of the intervertebral discs, and irregular vertebral end plate morphology. These data suggest that the pathogenesis of destructive changes in the spine in MPS VII may involve upregulation of cathepsins. Inhibition of destructive proteases, such as cathepsins, might reduce spine disease in patients with MPS VII or related disorders. PMID:22513347

  2. In vivo Delivery of Fluoresceinated Dextrans to the Murine Growth Plate: Imaging of Three Vascular Routes by Multiphoton Microscopy

    PubMed Central

    Farnum, Cornelia; Lenox, Michelle; Zipfel, Warren; Horton, William; Williams, Rebecca

    2008-01-01

    Bone elongation by endochondral ossification occurs through the differentiation cascade of chondrocytes of cartilaginous growth plates. Molecules from the systemic vasculature reach the growth plate from three different directions: epiphyseal, metaphyseal, and via a ring vessel and plexus associated with the perichondrium. This study is an analysis of the real-time dynamics of entrance of fluoresceinated tracers of different molecular weights into the growth plate from the systemic vasculature, and tests the hypothesis that molecular weight is a key variable in the determination of both the directionality and the extent of tracer movement into the growth plate. Multiphoton microscopy was used for direct in vivo imaging of the murine proximal tibial growth plate in anesthetized 4-5-week-old transgenic mice with green fluorescent protein linked to the collagen II promoter. Mice were given an intracardiac injection of either fluorescein (332.3 Da), or fluoresceinated dextrans of 3, 10, 40, 70 kDa, singly or sequentially. For each tracer, directionality and rate of arrival, together with extent of movement within the growth plate, were imaged in real time. For small molecules (up to 10 kDa) vascular access from all three directions was observed and entrance was equally permissive from the metaphyseal and the epiphyseal sides. Within our detection limit (a few per cent of vascular concentration) 40 kDa and larger dextrans did not enter. These results have implications both for understanding systemic and paracrine regulation of growth plate chondrocytic differentiation, as well as variables associated with effective drug delivery to growth plate chondrocytes. PMID:16342207

  3. Bacterial chondronecrosis with osteomyelitis and lameness in broilers: a review.

    PubMed

    Wideman, Robert F

    2016-02-01

    This review focuses on a specific cause of lameness known as bacterial chondronecrosis with osteomyelitis (BCO) in broilers. Rapid increases in body weight impose excessive torque and shear stress on structurally immature epiphyseal and physeal cartilage, primarily in the proximal femora, proximal tibiae, and flexible thoracic vertebrae. Excessive mechanical stress creates osteochondrotic clefts among the chondrocytes of susceptible growth plates. These wound sites are colonized by hematogenously distributed opportunistic bacteria, culminating in the gross abscesses and necrotic voids that are pathognomonic for terminal BCO. Lameness attributable to characteristic BCO lesions can be reproduced by rearing broilers on wire flooring to create persistent footing instability and physiological stress, without the need to inoculate the birds with pathogenic bacteria that presumably are present but quiescent within the bird's microbial communities or in the environment. Experiments using the wire-flooring model revealed innate differences in the susceptibility of broiler lines to BCO, and demonstrated that BCO incidences can be reduced by prophylactically providing probiotics in the feed, by prophylactically adding 25-hydroxy vitamin D3 to the drinking water, or by therapeutically adding the antibiotic enrofloxacin to the drinking water. Hatchery and chick quality issues clearly influence the susceptibility of broilers to BCO. When broilers remain in a sitting posture for prolonged periods, the major arteries supplying their legs may be compressed. These episodes of inadequate blood flow may prevent chondrocyte maturation and trigger focal necrosis, thereby making the epiphyseal and physeal cartilage highly susceptible to osteochondrosis and BCO. Much remains to be revealed regarding the pathogenesis of BCO. Further revelations will be facilitated by the availability of the now-validated wire-flooring models that consistently trigger high incidences of BCO in experimental

  4. Effects of neonatal enzyme replacement therapy and simvastatin treatment on cervical spine disease in mucopolysaccharidosis I dogs.

    PubMed

    Chiaro, Joseph A; O'Donnell, Patricia; Shore, Eileen M; Malhotra, Neil R; Ponder, Katherine P; Haskins, Mark E; Smith, Lachlan J

    2014-12-01

    Mucopolysaccharidosis I (MPS I) is a lysosomal storage disease characterized by deficient α-L-iduronidase activity, leading to the accumulation of poorly degraded glycosaminoglycans (GAGs). Children with MPS I exhibit high incidence of spine disease, including accelerated disc degeneration and vertebral dysplasia, which in turn lead to spinal cord compression and kyphoscoliosis. In this study we investigated the efficacy of neonatal enzyme replacement therapy (ERT), alone or in combination with oral simvastatin (ERT + SIM) for attenuating cervical spine disease progression in MPS I, using a canine model. Four groups were studied: normal controls; MPS I untreated; MPS I ERT-treated; and MPS I ERT + SIM-treated. Animals were euthanized at age 1 year. Intervertebral disc condition and spinal cord compression were evaluated from magnetic resonance imaging (MRI) images and plain radiographs, vertebral bone condition and odontoid hypoplasia were evaluated using micro-computed tomography (µCT), and epiphyseal cartilage to bone conversion was evaluated histologically. Untreated MPS I animals exhibited more advanced disc degeneration and more severe spinal cord compression than normal animals. Both treatment groups resulted in partial preservation of disc condition and cord compression, with ERT + SIM not significantly better than ERT alone. Untreated MPS I animals had significantly lower vertebral trabecular bone volume and mineral density, whereas ERT treatment resulted in partial preservation of these properties. ERT + SIM treatment demonstrated similar, but not greater, efficacy. Both treatment groups partially normalized endochondral ossification in the vertebral epiphyses (as indicated by absence of persistent growth plate cartilage), and odontoid process size and morphology. These results indicate that ERT begun from a very early age attenuates the severity of cervical spine disease in MPS I, particularly for the vertebral bone and odontoid process

  5. Growth in patients with isolated gonadotrophin deficiency.

    PubMed Central

    Dickerman, Z; Cohen, A; Laron, Z

    1992-01-01

    The growth pattern of 66 patients (50 males, 16 females) with isolated gonadotrophin deficiency (IGnD), who had reached their final height with epiphyseal closure, was evaluated. For the purpose of analysis the males were divided into two groups according to age at referral: group 1 less than 16 years (n = 23) and group 2 greater than or equal to 16 years (n = 27). Sex hormone treatment was initiated at a mean (SD) chronological age of 15.8 (1.3) and 18.6 (1.2) years in groups 1 and 2 in the males and at 15.3 (1.3) years in the females. The duration of treatment (until epiphyseal closure) in the males was 3.9 (1.5) years in group 1 and 2.1 (1.0) years in group 2 and 2.8 (1.3) years in the females. There was no significant difference between the mean final height in groups 1 and 2, but it was significantly higher than the mean parental height (mean height SD score (HtSDS): 0.1 (1.1) v -0.8 (0.9)) and they were significantly correlated. For females the mean HtSDS compared with parental height was 0.4 (1.5) v -0.6 (1.2). It is concluded that the timing of induction of puberty by sex hormones in males and females with IGnD has no significant effect on final height provided that moderate doses are used. Furthermore final height was significantly correlated to mid-parental height. PMID:1580683

  6. Automatic segmentation of bones from digital hand radiographs

    NASA Astrophysics Data System (ADS)

    Liu, Brent J.; Taira, Ricky K.; Shim, Hyeonjoon; Keaton, Patricia

    1995-05-01

    The purpose of this paper is to develop a robust and accurate method that automatically segments phalangeal and epiphyseal bones from digital pediatric hand radiographs exhibiting various stages of growth. The algorithm uses an object-oriented approach comprising several stages beginning with the most general objects to be segmented, such as the outline of the hand from background, and proceeding in a succession of stages to the most specific object, such as a specific phalangeal bone from a digit of the hand. Each stage carries custom operators unique to the needs of that specific stage which will aid in more accurate results. The method is further aided by a knowledge base where all model contours and other information such as age, race, and sex, are stored. Shape models, 1-D wrist profiles, as well as an interpretation tree are used to map model and data contour segments. Shape analysis is performed using an arc-length orientation transform. The method is tested on close to 340 phalangeal and epiphyseal objects to be segmented from 17 cases of pediatric hand images obtained from our clinical PACS. Patient age ranges from 2 - 16 years. A pediatric radiologist preliminarily assessed the results of the object contours and were found to be accurate to within 95% for cases with non-fused bones and to within 85% for cases with fused bones. With accurate and robust results, the method can be applied toward areas such as the determination of bone age, the development of a normal hand atlas, and the characterization of many congenital and acquired growth diseases. Furthermore, this method's architecture can be applied to other image segmentation problems.

  7. Levels of Evidence in the Treatment of Slipped Capital Femoral Epiphysis: A Systematic Review

    PubMed Central

    Moriarity, Andrew; Kennedy, Jim; Baker, Joe; Kiely, Pat

    2016-01-01

    The primary aim of this study was to analyze the current level of evidence available on the surgical management of Slipped Capital Femoral Epiphysis (SCFE). Secondary aims were to correlate the level of evidence with the impact factor of the journal to evaluate the level of evidence over time, and to evaluate the geographic distribution of the studies. Therapeutic studies published in English between January 1991 and August 2014 that reported on SCFE were identified via electronic search was performed using the databases PubMed, EMBASE, and the Cochrane Library. The search terms used included: Slipped capital femoral epiphyses OR SCFE OR Slipped upper femoral epiphyses OR SUFE AND Management OR Treatment. Correlation between the level of evidence and the impact factor of the journal were analyzed together with linear regression models to reveal any significant trends over time. A total of 1516 studies were found, of which 321 were included in the final analysis. The most frequent study type was the case series (51.1%) followed by case reports (22.4%) and expert opinion (14.0%). Randomized control trial accounted for only 0.6%. The Journal of Pediatric Orthopedics (American) had the most studies (22.6%) and the highest number of level 2 (n=1) and level 3 (n=15) type evidence. There was no progression of level of evidence over time. There was no correlation between level of evidence and impact factor of journal. The majority of therapeutic studies on SCFE are of low level of evidence. High-level RCTs are difficult to perform in pediatric orthopedic surgery, however the management of SCFE would benefit from well-designed, multicenter, clinical RCTs to advance evidence-based practice. PMID:27433299

  8. The arterial anatomy of the developing human dorsal and lumbar vertebral body. A microarteriographic study.

    PubMed

    Ratcliffe, J F

    1981-12-01

    The arterial anatomy of 60 lumbar and lower dorsal vertebral bodies from eight subjects aged between 29 weeks gestation and 15 years was studied. The arteries had been injected with a suspension of barium sulphate and the vertebrae decalcified, sectioned and radiographed. In the specimen of 29 weeks gestation, the equatorial arteries were present. Precursors of the metaphyseal arteries lay obliquely over and completely outside the ossification centre. These precursors originated from an irregular network of perichondral arteries near the equator. By six months of age, the perichondral arteries had migrated discally and had become well organized metaphyseal anastomoses while the metaphyseal arteries had become horizontal. Also by six months, the extra-osseous longitudinal anastomoses had developed into the adult pattern. In the 36 weeks fetus, the ends of the unbranching metaphyseal arteries were incorporated into the ossification centre. This central relationship was maintained into adult life, but, as the ossification centre expanded, the branches of the intra-osseous arteries followed the zone of ossification in a centrifugal manner. In infancy, the metaphyseal arteries were approximately equal in length and the equatorial arteries divided in the middle of the vertebral body; by the age of 15 years, the metaphyseal arteries arising from the anterolateral surfaces were longer than those which arose from the posterior surface, and the equatorial arteries divided behind the mid-point. From these arterial observations, a number of deductions concerning the mode of growth of the vertebral body have been drawn. Preterminal coils and typical peripheral arteries, frequent features in the adult vertebral body, were not seen in any of these specimens. There was no evidence of any epiphyseal growth plate, nor of epiphyseal arteries in these specimens. PMID:7333964

  9. Improved Visualization of Cartilage Canals Using Quantitative Susceptibility Mapping

    PubMed Central

    Nissi, Mikko J.; Tóth, Ferenc; Wang, Luning; Carlson, Cathy S.; Ellermann, Jutta M.

    2015-01-01

    Purpose Cartilage canal vessels are critical to the normal function of epiphyseal (growth) cartilage and damage to these vessels is demonstrated or suspected in several important developmental orthopaedic diseases. High-resolution, three-dimensional (3-D) visualization of cartilage canals has recently been demonstrated using susceptibility weighted imaging (SWI). In the present study, a quantitative susceptibility mapping (QSM) approach is evaluated for 3-D visualization of the cartilage canals. It is hypothesized that QSM post-processing improves visualization of the cartilage canals by resolving artifacts present in the standard SWI post-processing while retaining sensitivity to the cartilage canals. Methods Ex vivo distal femoral specimens from 3- and 8-week-old piglets and a 1-month-old human cadaver were scanned at 9.4 T with a 3-D gradient recalled echo sequence suitable for SWI and QSM post-processing. The human specimen and the stifle joint of a live, 3-week-old piglet also were scanned at 7.0 T. Datasets were processed using the standard SWI method and truncated k-space division QSM approach. To compare the post-processing methods, minimum/maximum intensity projections and 3-D reconstructions of the processed datasets were generated and evaluated. Results Cartilage canals were successfully visualized using both SWI and QSM approaches. The artifactual splitting of the cartilage canals that occurs due to the dipolar phase, which was present in the SWI post-processed data, was eliminated by the QSM approach. Thus, orientation-independent visualization and better localization of the cartilage canals was achieved with the QSM approach. Combination of GRE with a mask based on QSM data further improved visualization. Conclusions Improved and artifact-free 3-D visualization of the cartilage canals was demonstrated by QSM processing of the data, especially by utilizing susceptibility data as an enhancing mask. Utilizing tissue-inherent contrast, this method allows

  10. Tracheomalacia in a neonate with kniest dysplasia: histopathologic and ultrastructural features.

    PubMed

    Hicks, J; De Jong, A; Barrish, J; Zhu, S H; Popek, E

    2001-01-01

    Kniest dysplasia is an autosomal-dominant chondrodysplastic condition characterized by disproportionate dwarfism, short trunk, small pelvis, kyphoscoliosis, short limbs, prominent joints, premature osteoarthritis, and craniofacial manifestations. The craniofacial abnormalities include tracheomalacia, midface hypoplasia, cleft palate, early onset myopia, retinal detachment, prominent eyes, and sensorineural hearing loss. Radiologic features include dumbbell-shaped femora, platyspondylia with anterior wedging of vertebral bodies, coronal clefts of thoracolumbar vertebral bodies, low broad ilia, and short tubular bones with broad metaphyses and deformed large epiphyses. This form of chondrodysplasia is associated with mutations in type II collagen splicing sequences. Mutations have been identified in the COL2A1 (type II collagen) gene between exons 12 and 24. Type II collagen is the predominant structural protein in cartilage, and mutations in this collagen account for the Kniest dysplasia phenotype. Histopathologic and ultrastructural features of epiphyseal plate cartilage have been described, but tracheal cartilage in an affected neonate has not been examined. The authors report the histopathologic and ultrastructural findings of anterior tracheal cartilage from a 35-day-old female with suspected chondrodysplasia who had tracheomalacia with airway obstruction. The tracheal cartilage was moderately cellular, but lacked cystic and myxoid changes in its matrix. The chondrocytes had abundant cytoplasmic PAS-positive inclusions. Some of these inclusions were diastase-resistant and were also highlighted on Alcian blue staining. Ultrastructural examination revealed chondrocytes with greatly dilated rough endoplasmic reticulum containing granular proteinaceous material. There were also frequent aggregates of typical glycogen. The defect in the COL2A1 gene is secondary to mutations, especially at splice junctions, and this markedly disrupts triple helix formation. The

  11. Structural analysis of the human tibia in men with spinal cord injury by tomographic (pQCT) serial scans.

    PubMed

    Rittweger, Jörn; Goosey-Tolfrey, Vicky L; Cointry, Gustavo; Ferretti, José Luis

    2010-09-01

    Spinal cord injury (SCI), as a primarily neurological disorder that causes muscular atrophy, is well known to be associated with sub-lesional bone losses. These losses are more pronounced from epiphyseal than from diaphyseal regions. We hypothesized that this discrepancy may be explained by anatomical variation in endocortical circumference. Nine men who had attracted SCI 9 to 32 (mean 21.4) years prior to study inclusion were matched to able bodied control (Ctrl) people by age, height and weight. Serial scans by peripheral quantitative computed tomography were obtained from the tibia at steps corresponding to 5%-steps of the tibias length (s05 to s95, from distal to the proximal end of the tibia). As expected, SCI people had lower total bone mineral content (vBMC.tot) than able bodied control people (P<0.001 at all sites). This group difference (DeltavBMC.tot) was more pronounced at the distal and proximal tibia than in the shaft (P<0.001), and it amounted to 51% at s05, to 22% at s40, and to 47% at s95. Both endocortical and periosteal circumference were better predictors of DeltavBMC.tot (R(2)=0.98 and R(2)=0.97, respectively; P<0.001 in both cases) than vBMC.tot (R(2)=0.58, P<0.001), suggesting that anatomical variation in geometry, rather than in bone mass can explain differential rates of bone loss after SCI. Moreover, the s04:s38 ratio in vBMC.tot was found to be 1.00 (95% confidence interval: 0.95-1.05) in the Ctrl group, and 0.63 in the SCI group (P<0.001, 95% confidence interval: 0.54-0.68). These findings offer a rationale to account for the discrepancy between epiphyseal and diaphyseal bone losses following SCI. The suggestion is that the bone adaptive responses involved are limited in time, and that the reduced surface:volume ratio constitutes a limit within the available time window, in particular in the diaphysis. Finally, the drastically reduced s04:s38 vBMC.tot ratio observed in the SCI group in this study provides a rationale to scrutinize this

  12. A review of epidemiology of paediatric elbow injuries in sports.

    PubMed

    Magra, Merzesh; Caine, Dennis; Maffulli, Nicola

    2007-01-01

    The elbow is a common site of orthopaedic injury in the paediatric population. The number of these injuries continues to rise following increased levels of participation in paediatric recreational and competitive sport. Injuries to the paediatric elbow can be classified as either overuse or acute. Delineating injury patterns to the elbow in children can be challenging, given the cartilaginous composition of the distal humerus and the multiple secondary ossification centres that appear and unite with the epiphysis at defined ages. Pitching in baseball, serving in tennis, spiking in volleyball, passing in American football and launching in javelin-throwing can all produce elbow pathology by forceful valgus stress, with medial stretching, lateral compression and posterior impingement. In children and adolescents, the epiphyseal plate is weaker than the surrounding ligaments, predisposing them to epiphyseal plate injuries. On the other hand, post-pubescent or skeletally mature athletes are more prone to tendinous or ligamentous injury. Injuries may cause significant impact on the athlete, parents and healthcare system. With the exception of baseball, there are few prospective cohort studies on the epidemiological trends of childhood elbow injuries in other sports. This paper aims to describe the epidemiological trends in paediatric elbow injuries related to sports, suggests prevention strategies and discusses the scope for further research. A web-based search of existing articles pertaining to paediatric elbow injuries in sports was performed. The implications of acute and overuse injuries and the possibility of permanent damage should be understood by parents, coaches and the athletes. Proper understanding of the intrinsic and extrinsic risk factors that could lead to elbow injuries is thus required. Measures to prevent elbow injuries should include proper coaching, warm-up, officiation, legislation, medical expertise and protective gear. There are still many

  13. Melanocortin 1 Receptor-Signaling Deficiency Results in an Articular Cartilage Phenotype and Accelerates Pathogenesis of Surgically Induced Murine Osteoarthritis

    PubMed Central

    Hackmayer, Gerit; Greth, Carina; Bauer, Richard J.; Kleinschmidt, Kerstin; Bettenworth, Dominik; Böhm, Markus; Grifka, Joachim; Grässel, Susanne

    2014-01-01

    Proopiomelanocortin-derived peptides exert pleiotropic effects via binding to melanocortin receptors (MCR). MCR-subtypes have been detected in cartilage and bone and mediate an increasing number of effects in diathrodial joints. This study aims to determine the role of MC1-receptors (MC1) in joint physiology and pathogenesis of osteoarthritis (OA) using MC1-signaling deficient mice (Mc1re/e). OA was surgically induced in Mc1re/e and wild-type (WT) mice by transection of the medial meniscotibial ligament. Histomorphometry of Safranin O stained articular cartilage was performed with non-operated controls (11 weeks and 6 months) and 4/8 weeks past surgery. µCT–analysis for assessing epiphyseal bone architecture was performed as a longitudinal study at 4/8 weeks after OA-induction. Collagen II, ICAM-1 and MC1 expression was analysed by immunohistochemistry. Mc1re/e mice display less Safranin O and collagen II stained articular cartilage area compared to WT prior to OA-induction without signs of spontaneous cartilage surface erosion. This MC1-signaling deficiency related cartilage phenotype persisted in 6 month animals. At 4/8 weeks after OA-induction cartilage erosions were increased in Mc1re/e knees paralleled by weaker collagen II staining. Prior to OA-induction, Mc1re/e mice do not differ from WT with respect to bone parameters. During OA, Mc1re/e mice developed more osteophytes and had higher epiphyseal bone density and mass. Trabecular thickness was increased while concomitantly trabecular separation was decreased in Mc1re/e mice. Numbers of ICAM-positive chondrocytes were equal in non-operated 11 weeks Mc1re/e and WT whereas number of positive chondrocytes decreased during OA-progression. Unchallenged Mc1re/e mice display smaller articular cartilage covered area without OA-related surface erosions indicating that MC1-signaling is critical for proper cartilage matrix integrity and formation. When challenged with OA, Mc1re/e mice develop a more severe OA

  14. Femoral development in chronically centrifuged rats

    NASA Technical Reports Server (NTRS)

    Smith, S. D.

    1977-01-01

    Groups of 30-d-old male and female rats were centrifuged at 2.00 G (RE, Rotation Experimental), 1.05 G (RC, Rotation Control) or exposed to the noise and wind of the centrifuge at 1.00 G (EC, Earth Control) for periods of 1, 2, 4, 8, and 16 weeks. Measurements of their femurs indicated that exposure to centrifugation a) decreased femoral length in RE animals, b) increased femoral length in RC animals, c) reduced femoral diameter in RE and RC animals, d) increased L/D ratios in RC animals, e) decreased L/D ratios in RE animals, f) increased femur length/body weight in RE animals, g) decreased cortical thickness (CT) in RE animals, h) increased relative CT in RE animals, and decreased it in RC animals, i) accelerated ossification in RC femoral heads, j) thinned and distorted RE epiphyseal plates, and k) thickened condylar cartilage in RE females. The effects tended to be strongly sexually dimorphic, with females more severely affected by the stress than males.

  15. A comprehensive approach to the spectrum of abnormal pubertal development.

    PubMed

    Appelbaum, Heather; Malhotra, Shilpa

    2012-04-01

    Puberty is the biological transition from childhood to adulthood. The process involves the coordination of hormonal, physical, psychosocial, and cognitive systems to result in physiologic change. Precocious puberty is defined as pubertal development beginning earlier than expected based on normal standards. Gonadotropin dependent precocious puberty is caused by premature activation of the hypothalamus resulting in pulsatile secretion of GnRH. Gonadotropin independent precocious puberty is caused by excess sex hormones from peripheral or external sources. Treatment with GnRH agonists should be offered to prevent early fusion of the epiphyseal plates to avoid unnecessary short stature and should not be based on perceived psychosocial consequences of early puberty. Delayed puberty is the absence of or incomplete development of secondary sexual characteristics. Hypergonadotropic hypogonadism or primary hypogonadism may result from genetic mutation syndromes or can be acquired from antiovarian antibodies, exposure to radiation or chemotherapy, inflammatory insult, or surgical removal of the gonads. Hypogonadotropic hypogonadism or secondary hypogonadism is due to hypothalamic dysfunction resulting in impaired secretion of GnRH. The long-term goal for patients with inadequate estrogen stimulation is to maintain the serum concentration of sex steroids within the normal adult range to promote the development of secondary sexual characteristics, prevent premature bone loss, and ultimately to induce fertility when indicated. PMID:22764552

  16. Structural analysis of rat bone explants kept in vitro in simulated microgravity conditions.

    PubMed

    Cosmi, F; Steimberg, N; Dreossi, D; Mazzoleni, G

    2009-04-01

    Skeletal abnormalities reported in humans and laboratory animals after spaceflight, include cancellous osteopenia, decreased cortical and cancellous bone formation, aberrant matrix ultrastructure, decreased mineralization and reduced bone strength. Although considerable effort has been made up to now to understand the skeletal effects of spaceflight, in order to estimate health risk, our knowledge in this area is still largely incomplete. It is widely accepted that the mechanical strength of cancellous bone is related not only to the mineral content, but also to the trabecular micro-architecture arrangement. Three-dimensional numerical analysis of bone volumes has been shown to be an important tool in this field. The Cell Method, a recently introduced numerical method, has been applied to static analysis of structures obtained from 3D reconstruction of micro-computed tomography scans performed at the Elettra Synchrotron facility (Trieste, Italy) in order to quantify changes in trabecular bone architecture. In the present study, the Cell Method model is used to compare the micro-tomographed structure of fragments of rats bone explants (tibial proximal epiphyses) harvested after 3 days and after 1, 2, 3 and 4 weeks of culture in the RCCS bioreactor, which represents the unique existing bioreactor, operating on the Earth's surface, capable of successfully reproducing, in vitro, optimal conditions in order to simulate a microgravity environment. Although preliminary, our results seem to suggest that the exposure of tibial bone explants to simulated microgravity conditions obtained by the RCCS bioreactor, are consistent with skeletal changes observed after spaceflight. PMID:19627820

  17. Phenotypic expressions of a Gly154Arg mutation in type II collagen in two unrelated patients with spondyloepimetaphyseal dysplasia (SEMD)

    SciTech Connect

    Kaitila, I.; Marttinen, E.; Koerkkoe, J.; Ala-Kokko, L.

    1996-05-03

    Type II collagenopathies consist of chondrodysplasia ranging from lethal to mild in severity. A large number of mutations has been found in the COL2A1 gene. Glycine substitutions have been the most common types of mutation. Genotype-phenotype correlations in type II collagenopathies have not been established, partly because of insufficient clinical and radiographic description of the patients. We found a glycine-to-arginine substitution at position 154 in type II collagen in two unrelated isolated propositi with spondyloepimetaphyseal dysplasia and provide a comparative clinical and radiographic analysis from birth to young adulthood for this condition. The clinical phenotype was disproportionate short stature with varus/valgus deformities of the lower limbs requiring corrective osteotomies, and lumbar lordosis. The skeletal radiographs showed an evolution from short tubular bones, delayed epiphyseal development, and mild vertebral involvement to severe metaphyseal dysplasia with dappling irregularities, and hip {open_quotes}dysplasia.{close_quotes} The metaphyseal abnormalities disappeared by adulthood. 27 refs., 11 figs., 1 tab.

  18. Hip injuries in children and adolescents.

    PubMed

    Craig, C L

    1980-10-01

    Hip injuries in children present a wide spectrum of problems. Frequently because of the severity of the trauma involved, other injuries may take precedence and may require modification of the usual approaches to treatment. However, certain precepts are essential to the successful treatment of these injuries and should be kept in mind regardless of the milieu in which they are found. In the child with a hip dislocation, the potential presence of an acetabular, femoral head, femoral shaft, patellar or tibial plateau fracture must always be considered. Specialized x-ray views are necessary for this evaluation. Laminography and arthrography may also be required. The essential feature of successful subsequent treatment is a gentle closed reduction performed within 24 hours of injury. Treatment of displaced fractures of the femoral neck remains an unresolved issue. Accurate reduction held with adequate internal fixation would appear to offer the best chance for a successful result. The possible complications of avascular necrosis, delayed union and non-union, coxa vara, premature closure of the epiphyseal plate, and shortening should be appreciated. Early institution of appropriate treatment may mitigate the ultimate effect of these potentially devastating problems. PMID:7454245

  19. Scurvy in pediatric age group – A disease often forgotten?

    PubMed Central

    Agarwal, Anil; Shaharyar, Abbas; Kumar, Anubrat; Bhat, Mohd Shafi; Mishra, Madhusudan

    2015-01-01

    Scurvy is caused by prolonged severe dietary deficiency of vitamin C. Being rare as compared to other nutritional deficiencies, it is seldom suspected and this frequently leads to delayed recognition of this disorder. Children with abnormal dietary habits, mental illness or physical disabilities are prone to develop this disease. The disease spectrum of scurvy is quite varied and includes dermatological, dental, bone and systemic manifestations. Subperiosteal hematoma, ring epiphysis, metaphyseal white line and rarefaction zone along with epiphyseal slips are common radiological findings. High index of suspicion, detailed history and bilateral limb radiographs aids physician in diagnosing this eternal masquerader. We searched Pubmed for recent literature (2009–2014) with search terms “scurvy” “vitamin C deficiency” “ascorbic acid deficiency” “scurvy and children” “scurvy and pediatric age group”. There were a total of 36 articles relevant to pediatric scurvy in children (7 reviews and 29 case reports) which were retrieved. The review briefly recapitulates the role of vitamin C, the various disease manifestations and the treatment of scurvy to create awareness of the disease which still is reported from our country, although sporadically. The recent advances related to scurvy and its management in pediatric age group are also incorporated. PMID:25983516

  20. Uncoupling of chondrocyte differentiation and perichondrial mineralization underlies the skeletal dysplasia in tricho-rhino-phalangeal syndrome

    PubMed Central

    Napierala, Dobrawa; Sam, Kathy; Morello, Roy; Zheng, Qiping; Munivez, Elda; Shivdasani, Ramesh A.; Lee, Brendan

    2008-01-01

    Tricho-rhino-phalangeal syndrome (TRPS) is an autosomal dominant craniofacial and skeletal dysplasia that is caused by mutations involving the TRPS1 gene. Patients with TRPS have short stature, hip abnormalities, cone-shaped epiphyses and premature closure of growth plates reflecting defects in endochondral ossification. The TRPS1 gene encodes for the transcription factor TRPS1 that has been demonstrated to repress transcription in vitro. To elucidate the molecular mechanisms underlying skeletal abnormalities in TRPS, we analyzed Trps1 mutant mice (Trps1ΔGT mice). Analyses of growth plates demonstrated delayed chondrocyte differentiation and accelerated mineralization of perichondrium in Trps1 mutant mice. These abnormalities were accompanied by increased Runx2 and Ihh expression and increased Indian hedgehog signaling. We demonstrated that Trps1 physically interacts with Runx2 and represses Runx2-mediated trans-activation. Importantly, generation of Trps1ΔGT/+;Runx2+/− double heterozygous mice rescued the opposite growth plate phenotypes of single mutants, demonstrating the genetic interaction between Trps1 and Runx2 transcription factors. Collectively, these data suggest that skeletal dysplasia in TRPS is caused by dysregulation of chondrocyte and perichondrium development partially due to loss of Trps1 repression of Runx2. PMID:18424451

  1. CB1 cannabinoid receptors mediate endochondral skeletal growth attenuation by Δ9-tetrahydrocannabinol.

    PubMed

    Wasserman, Elad; Tam, Joseph; Mechoulam, Raphael; Zimmer, Andreas; Maor, Gila; Bab, Itai

    2015-01-01

    The endocannabinoid (EC) system regulates bone mass. Because cannabis use during pregnancy results in stature shorter than normal, we examined the role of the EC system in skeletal elongation. We show that CB1 and CB2 cannabinoid receptors are expressed specifically in hypertrophic chondrocytes of the epiphyseal growth cartilage (EGC), which drives vertebrate growth. These cells also express diacylglycerol lipases, critical biosynthetic enzymes of the main EC, and 2-arachidonoylglycerol (2-AG), which is present at significant levels in the EGC. Femora of CB1- and/or CB2-deficient mice at the end of the rapid growth phase are longer compared to wild-type (WT) animals. We find that Δ(9) -tetrahydrocannabinol (THC) slows skeletal elongation of female WT and CB2-, but not CB1-, deficient mice, which is reflected in femoral and lumbar vertebral body length. This in turn results in lower body weight, but unaltered fat content. THC inhibits EGC chondrocyte hypertrophy in ex vivo cultures and reduces the hypertrophic cell zone thickness of CB1-, but not CB2-, deficient mice. These results demonstrate a local growth-restraining EC system in the EGC. The relevance of the present findings to humans remains to be studied. PMID:25573322

  2. Evaluation of four biodegradable, injectable bone cements in an experimental drill hole model in sheep.

    PubMed

    von Rechenberg, Brigitte; Génot, Oliver R; Nuss, Katja; Galuppo, Larry; Fulmer, Mark; Jacobson, Evan; Kronen, Peter; Zlinszky, Kati; Auer, Jörg A

    2013-09-01

    Four cement applications were tested in this investigation. Two dicalcium phosphate dihydrate (DCPD-brushite) hydraulic cements, an apatite hydraulic fiber loaded cement, and a calcium sulfate cement (Plaster of Paris) were implanted in epiphyseal and metaphyseal cylindrical bone defects in sheep. The in vivo study was performed to assess the biocompatibility and bone remodeling of four cement formulations. After time periods of 2, 4, and 6 months, the cement samples were clinically and histologically evaluated. Histomorphometrically, the amount of new bone formation, fibrous tissue, and bone marrow and the area of remaining cement were measured. In all specimens, no signs of inflammation were detectable either macroscopically or microscopically. Cements differed mainly in their resorption time. Calcium sulfate was already completely resorbed at 2 months and showed a variable amount of new bone formation and/or fibrous tissue in the original drill hole over all time periods. The two DCPD cements in contrast were degraded to a large amount at 6 months, whereas the apatite was almost unchanged over all time periods. PMID:23680585

  3. A novel TRPS1 gene mutation causing trichorhinophalangeal syndrome with growth hormone responsive short stature: a case report and review of the literature.

    PubMed

    Merjaneh, Lina; Parks, John S; Muir, Andrew B; Fadoju, Doris

    2014-01-01

    The role of growth hormone (GH) and its therapeutic supplementation in the trichorhinophalangeal syndrome type I (TRPS I) is not well delineated. TRPS I is a rare congenital syndrome, characterized by craniofacial and skeletal malformations including short stature, sparse, thin scalp hair and lateral eyebrows, pear-shaped nose, cone shaped epiphyses and hip dysplasia. It is inherited in an autosomal dominant manner and caused by haploinsufficiency of the TRPS1 gene. We report a family (Mother and 3 of her 4 children) with a novel mutation in the TRPS1 gene. The diagnosis was suspected only after meeting all family members and comparing affected and unaffected siblings since the features of this syndrome might be subtle. The eldest sibling, who had neither GH deficiency nor insensitivity, improved his growth velocity and height SDS after 2 years of treatment with exogenous GH. No change in growth velocity was observed in the untreated siblings during this same period. This report emphasizes the importance of examining all family members when suspecting a genetic syndrome. It also demonstrates the therapeutic effect of GH treatment in TRPS I despite normal GH-IGF1 axis. A review of the literature is included to address whether TRPS I is associated with: a) GH deficiency, b) GH resistance, or c) GH-responsive short stature. More studies are needed before recommending GH treatment for TRPS I but a trial should be considered on an individual basis. PMID:25177352

  4. [Effect of dosed diet restriction on physiological remodeling and bioelectric properties of bone].

    PubMed

    Levashov, M I; Ianko, R V; Chaka, E G; Safonov, S L

    2014-07-01

    The effect of dosed diet restriction on the physiological remodeling and bioelectric properties of bone tissue was studied in 48 male Wistar rats 3- and 18-months of age. The rate of bone tissue apposition was studied by the dynamic histomorphometry method (intravital tetracycline labeling). Electric potentials on the periosteal surface of the freshly isolated femurs were recorded. The magnitude of dielectric loss factor was determined to assess the quality of bone tissue. The control rats received a standard diet. The experimental rats received a limited diet (60 % of the standard mass) for 28 days. The magnitude and rate of the bone tissue apposition on the endosteal and periosteal surface of the tibia were less by 38.4% and 122.7% respectively in experimental rats after dosed diet restriction. Electric potential in the metaphyseal-epiphyseal growth zones of the femur was 29.7% lower, and the dielectric loss factor increased by 15.8%. The bone tissue apposition rate and the electric potential magnitude were increased 10 days after completion of the dosed diet restriction. The magnitude of the dielectric loss factor decreased after returning to the standard diet. Key words: dosed diet restriction, bone, remodelling, bioelectric properties. PMID:25669112

  5. Asparaginase Potentiates Glucocorticoid-Induced Osteonecrosis in a Mouse Model

    PubMed Central

    Liu, Chengcheng; Janke, Laura J.; Kawedia, Jitesh D.; Ramsey, Laura B.; Cai, Xiangjun; Mattano, Leonard A.; Boyd, Kelli L.; Funk, Amy J.; Relling, Mary V.

    2016-01-01

    Osteonecrosis is a common dose-limiting toxicity of glucocorticoids. Data from clinical trials suggest that other medications can increase the risk of glucocorticoid-induced osteonecrosis. Here we utilized a mouse model to study the effect of asparaginase treatment on dexamethasone-induced osteonecrosis. Mice receiving asparaginase along with dexamethasone had a higher rate of osteonecrosis than those receiving only dexamethasone after 6 weeks of treatment (44% vs. 10%, P = 0.006). Similarly, epiphyseal arteriopathy, which we have shown to be an initiating event for osteonecrosis, was observed in 58% of mice receiving asparaginase and dexamethasone compared to 17% of mice receiving dexamethasone only (P = 0.007). As in the clinic, greater exposure to asparaginase was associated with greater plasma exposure to dexamethasone (P = 0.0001). This model also recapitulated other clinical risk factors for osteonecrosis, including age at start of treatment, and association with the systemic exposure to dexamethasone (P = 0.027) and asparaginase (P = 0.036). We conclude that asparaginase can potentiate the osteonecrotic effect of glucocorticoids. PMID:26967741

  6. One carbon metabolism and bone homeostasis and remodeling: A review of experimental research and population studies.

    PubMed

    Feigerlova, Eva; Demarquet, Lea; Guéant, Jean-Louis

    2016-07-01

    Homocysteine (HCY) is a degradation product of the methionine pathway. The B vitamins, in particular vitamin B12 and folate, are the primary nutritional determinant of HCY levels and therefore their deficiencies result in hyperhomocysteinaemia (HHCY). Prevalence of hyperhomocysteinemia (HHCY) and related dietary deficiencies in B vitamins and folate increase with age and have been related to osteoporosis and abnormal development of epiphyseal cartilage and bone in rodents. Here we provide a review of experimental and population studies. The negative effects of HHCY and/or B vitamins and folate deficiencies on bone formation and remodeling are documented by cell models, including primary osteoblasts, osteoclast and bone progenitor cells as well as by animal and human studies. However, underlying pathophysiological mechanisms are complex and remain poorly understood. Whether these associations are the direct consequences of impaired one carbon metabolism is not clarified and more studies are still needed to translate these findings to human population. To date, the evidence is limited and somewhat conflicting, however further trials in groups most vulnerable to impaired one carbon metabolism are required. PMID:27086080

  7. In vivo radiometric analysis of glucose uptake and distribution in mouse bone.

    PubMed

    Zoch, Meredith L; Abou, Diane S; Clemens, Thomas L; Thorek, Daniel L J; Riddle, Ryan C

    2016-01-01

    Bone formation and remodeling occurs throughout life and requires the sustained activity of osteoblasts and osteoclasts, particularly during periods of rapid bone growth. Despite increasing evidence linking bone cell activity to global energy homeostasis, little is known about the relative energy requirements or substrate utilization of bone cells. In these studies, we measured the uptake and distribution of glucose in the skeleton in vivo using positron-emitting (18)F-fluorodeoxyglucose ([(18)F]-FDG) and non-invasive, high-resolution positron emission tomography/computed tomography (PET/CT) imaging and ex vivo autoradiography. Assessment of [(18)F]-FDG uptake demonstrated that relative to other tissues bone accumulated a significant fraction of the total dose of the glucose analog. Skeletal accumulation was greatest in young mice undergoing the rapid bone formation that characterizes early development. PET/CT imaging revealed that [(18)F]-FDG uptake was greatest in the epiphyseal and metaphyseal regions of long bones, which accords with the increased osteoblast numbers and activity at this skeletal site. Insulin administration significantly increased skeletal accumulation of [(18)F]-FDG, while uptake was reduced in mice lacking the insulin receptor specifically in osteoblasts or fed a high-fat diet. Our results indicated that the skeleton is a site of significant glucose uptake and that its consumption by bone cells is subject to regulation by insulin and disturbances in whole-body metabolism. PMID:27088042

  8. Inhibitory effects of a polypeptide thymic factor on the development of 7,12-dimethylbenz(a)anthragene-induced mammary adenocarcinoma in female rats

    SciTech Connect

    Anisimov, V.N.; Danetskaya, E.V.; Morozov, V.G.; Khavinson, V.Kh.

    1980-01-01

    It has come to be recognized that tumor growth is accompanied by inhibition of cellular immunity and the function of the T lymphocytes. Restitution of T lymphocyte function by means of several pharmacologic agents such as levamisole, phenformin, or epithalamin (an epiphyseal factor) has, in a number of cases, been accompanied by growth inhibition of both spontaneous and induced tumors. In addition, the importance of the thymus in the regulation of T lymphocytes and in antitumor immunity has been recognized. Several indicators point to the fact that the thymus contains physiologically active substances which stimulate T cell-dependent immunity and prevent the occurrence of neoplasms. These considerations have led to attempts at isolation of active thymic factors and studies on their effects on the appearance and growth of tumors. Previously, a thymic factor - thymarin - had been isolated which imparted immunocompetence to the T lymphocytes. This factor differs from other thymic preparations, including thymosine, in terms of a number of physicochemical characteristics and is a polypeptide with a molecular weight of 5000. This study is concerned with its effects on tumor development - mammary gland adenocarcinoma induced in animals with a chemical carcinogen.

  9. Asparaginase Potentiates Glucocorticoid-Induced Osteonecrosis in a Mouse Model.

    PubMed

    Liu, Chengcheng; Janke, Laura J; Kawedia, Jitesh D; Ramsey, Laura B; Cai, Xiangjun; Mattano, Leonard A; Boyd, Kelli L; Funk, Amy J; Relling, Mary V

    2016-01-01

    Osteonecrosis is a common dose-limiting toxicity of glucocorticoids. Data from clinical trials suggest that other medications can increase the risk of glucocorticoid-induced osteonecrosis. Here we utilized a mouse model to study the effect of asparaginase treatment on dexamethasone-induced osteonecrosis. Mice receiving asparaginase along with dexamethasone had a higher rate of osteonecrosis than those receiving only dexamethasone after 6 weeks of treatment (44% vs. 10%, P = 0.006). Similarly, epiphyseal arteriopathy, which we have shown to be an initiating event for osteonecrosis, was observed in 58% of mice receiving asparaginase and dexamethasone compared to 17% of mice receiving dexamethasone only (P = 0.007). As in the clinic, greater exposure to asparaginase was associated with greater plasma exposure to dexamethasone (P = 0.0001). This model also recapitulated other clinical risk factors for osteonecrosis, including age at start of treatment, and association with the systemic exposure to dexamethasone (P = 0.027) and asparaginase (P = 0.036). We conclude that asparaginase can potentiate the osteonecrotic effect of glucocorticoids. PMID:26967741

  10. Presence of repeating hyperostotic bones in dorsal pterygiophores of the oarfish, Regalecus russellii.

    PubMed

    Paig-Tran, E W Misty; Barrios, Andrew S; Ferry, Lara A

    2016-10-01

    Hyperostosis, excessive bone growth along bone that stems from bone, periosteum or articular or epiphyseal cartilage, occurs in at least 22 families of fishes most of which are tropical or subtropical marine species. While the presence of hyperostosis is well documented in fishes, the mechanism driving the development of the excessive bone growth is unclear. This study documented hyperostosis along the dorsal pterygiophores in both sexes of oarfish, Regalecus russellii; however, it was not present in all specimens examined. This is the second lampridiform fish with hyperostoses and the first case documented in a deeper-water, epi-mesopelagic fish. In oarfish, the majority of the dorsal pterygiophores tissues are poorly mineralized, anosteocytic bones with some fish displaying localized stiffened, hyperostotic growths near the distal edge. Oarfish lack a swim bladder so they must continuously beat their bi-directional dorsal fin to maintain position within the water column while engaged in locomotory behavior. These fishes have areas of localized, hyperostotic skeletal elements along the dorsal pterygiophores that, presumably, function as a stiffened lever system to support fin undulation. It was noted that hyperossification was not present in all fish examined and was only documented in fish with total lengths greater than 3 m. PMID:27296623

  11. The role of energy dissipation of polymeric scaffolds in the mechanobiological modulation of chondrogenic expression.

    PubMed

    Abdel-Sayed, Philippe; Darwiche, Salim E; Kettenberger, Ulrike; Pioletti, Dominique P

    2014-02-01

    Mechanical stimulation has been proposed to induce chondrogenesis in cell-seeded scaffolds. However, the effects of mechanical stimuli on engineered cartilage may vary substantially between different scaffolds. This advocates for the need to identify an overarching mechanobiological variable. We hypothesize that energy dissipation of scaffolds subjected to dynamic loading may be used as a mechanobiology variable. The energy dissipation would furnish a general criterion to adjust the mechanical stimulation favoring chondrogenesis in scaffold. Epiphyseal chondro-progenitor cells were then subject to unconfined compression 2 h per day during four days in different scaffolds, which differ only by the level of dissipation they generated while keeping the same loading conditions. Scaffolds with higher dissipation levels upregulated the mRNA of chondrogenic markers. In contrast lower dissipation of scaffolds was associated with downregulation of chondrogenic markers. These results showed that energy dissipation could be considered as a mechanobiology variable in cartilage. This study also indicated that scaffolds with energy dissipation level close to the one of cartilage favors chondrogenic expression when dynamical loading is present. PMID:24331703

  12. Skeletal Deformity Associated with SHOX Deficiency

    PubMed Central

    Seki, Atsuhito; Jinno, Tomoko; Suzuki, Erina; Takayama, Shinichiro; Ogata, Tsutomu; Fukami, Maki

    2014-01-01

    Abstract. SHOX haploinsufficiency due to mutations in the coding exons or microdeletions involving the coding exons and/or the enhancer regions accounts for approximately 80% and 2–16% of genetic causes of Leri-Weill dyschondrosteosis and idiopathic short stature, respectively. The most characteristic feature in patients with SHOX deficiency is Madelung deformity, a cluster of anatomical changes in the wrist that can be attributed to premature epiphyseal fusion of the distal radius. Computed tomography of SHOX-deficient patients revealed a thin bone cortex and an enlarged total bone area at the diaphysis of the radius, while histopathological analyses showed a disrupted columnar arrangement of chondrocytes and an expanded hypertrophic layer of the growth plate. Recent studies have suggested that perturbed programmed cell death of hypertrophic chondrocytes may underlie the skeletal changes related to SHOX deficiency. Furthermore, the formation of an aberrant ligament tethering the lunate and radius has been implicated in the development of Madelung deformity. Blood estrogen levels and mutation types have been proposed as phenotypic determinants of SHOX deficiency, although other unknown factors may also affect clinical severity of this entity. PMID:25110390

  13. Metaphyseal dysplasia of Braun-Tinschert type: report of a Japanese girl.

    PubMed

    Takata, Shinjiro; Nishimura, Gen; Ikegawa, Shiro; Kuroda, Yasuhiro; Nishino, Mizuho; Matsui, Yoshito; Yasui, Natsuo

    2006-06-01

    We report on a 7-year-old Japanese girl with metaphyseal dysplasia (MD) of Braun-Tinschert type, a recently recognized, autosomal dominant sclerosing bone dysplasia. All individuals with the disorder from four families in the literature originated from a small town in Bohemia or its vicinity. The occurrence of the disorder in a Japanese girl indicates that it is not restricted to Germans. The radiographic hallmarks of the disorder include metaphyseal undermodeling (Erlenmeyer-flask deformity); osteosclerosis of the chondroosseous junctions, metaphyseal cortices, and epiphyseal margins; and exostosis-like bone excrescences at the metaphyseal-diaphyseal junctions. In the girl we described, the latter two findings were conspicuous at age 4 years, but became less prominent with increasing age. The metaphyseal trabeculae were somewhat coarse. The humeri exhibited varus deformity, and the ulnae and fibulae mild bowing. The mean bone mineral density of the lumbar spine was lower than that of age-matched controls. The patient exhibited premature loss of primary teeth, likely to be a sign of increased periodontal bone resorption. Markers of bone formation and resorption were both increased, an indication of a high rate of bone turnover. PMID:16691581

  14. Differential limb scaling in the american alligator (Alligator mississippiensis) and its implications for archosaur locomotor evolution.

    PubMed

    Livingston, Victoria J; Bonnan, Matthew F; Elsey, Ruth M; Sandrik, Jennifer L; Wilhite, D Ray

    2009-06-01

    Bipedalism evolved multiple times within archosaurs, and relatively shorter forelimbs characterize both crocodyliforms and nonavian dinosaurs. Analysis of a comprehensive ontogenetic sequence of specimens (embryo to adult) of the sauropodomorph Massospondylus has shown that bipedal limb proportions result from negative forelimb allometry. We ask, is negative forelimb allometry a pattern basal to archosaurs, amplified in certain taxa to produce bipedalism? Given the phylogenetic position of extant crocodylians and their relatively shorter forelimb, we tested the hypothesis that prevalent negative forelimb allometry is present in Alligator mississippiensis from a sample of wild specimens from embryonic to adult sizes. Long bone lengths (humerus, radius, ulna, femur, tibia, fibula, third metapodials) were measured with their epiphyseal cartilage intact at all sizes. Our results show an overall isometric pattern for most elements regressed on femur length, humerus length, or total limb length. However, negative allometry was prevalent for the ulna, and the third metapodials scale with positive allometry embryonically. These data suggest that the general forelimb proportions in relation to the hindlimb do not change significantly with increasing size in A. mississippiensis. The negative allometry of the ulna and embryonicaly positive allometry of the third metapodials appears to be related to maintaining the functional integrity of the limbs. We show that this pattern is different from that of the sauropodomorph Massospondylus, and we suggest that if bipedalism in archosaurs is tied, in part, to negative forearm allometry, it was either secondarily lost through isometric scaling, or never developed in the ancestor of A. mississippiensis. PMID:19462445

  15. Burnt bone assemblages from El Esquilleu cave (Cantabria, Northern Spain): deliberate use for fuel or systematic disposal of organic waste?

    NASA Astrophysics Data System (ADS)

    Yravedra, J.; Uzquiano, P.

    2013-05-01

    Bones or fossil fuels associated with combustion structures have been widely discussed in several works related to Neanderthal lifestyles and subsistence patterns during the MIS 3. El Esquilleu cave (western Cantabria, Spain) can significantly contribute to this issue, particularly with the taphonomic study of layers 21 and 23, which are characterized by the presence of hearths containing abundant burnt and charred faunal remains of ibex. The fragmentation and burning rates as well as bone presence within hearths may suggest that they were used as a supplementary fuel resource. Following previous research on the suitability of bones as a supplement to firewood in hearth combustions, a series of experiments are here presented using goat bones, in consistency with the faunal record present at El Esquilleu. Our experiments proved that small-sized animal (<100 kg in weight) bones also possess appropriate qualities for their use as fuel, particularly epiphyseal and axial parts. This paper critically evaluates whether bones could have been used as fuel by the Neanderthal groups at El Esquilleu or whether their combustion resulted from other behavioural practises. In this sense, we compare our results with different proxy data from this site as well as with the palaeoenvironmental information available for the MIS 3 chronological period in Western Europe.

  16. In situ hybridization and immunohistochemistry of versican, aggrecan and link protein, and histochemistry of hyaluronan in the developing mouse limb bud cartilage

    PubMed Central

    Shibata, S; Fukada, K; Imai, H; Abe, T; Yamashita, Y

    2003-01-01

    We investigated the expression pattern of versican, aggrecan, link protein and hyaluronan in the developing limb bud cartilage of the fetal mouse using in situ hybridization and/or immunohistochemistry. Versican mRNA and immunostaining were detected in the mesenchymal cell condensation of the future digital bone at E13. Versican mRNA expression rapidly disappeared from the tibial cartilage, as cartilage formation progressed during E13–15, but the immunostaining was gradually replaced by aggrecan immunostaining from the diaphysis. Immunostaining for both molecules thus had a ‘nega-posi’ pattern and consequently versican immunostaining was still detected at the epiphyseal end at E15. This result indicated that versican functions as a temporary framework in newly formed cartilage matrix. An aggrecan-positive region within the cartilage invariably had intense hyaluronan staining, whereas a versican-positive region also had affinity for hyaluronan within the cartilage, but not in the mesenchymal cell condensation. Therefore, the presence of versican aggregates was not confirmed in the developing limb bud cartilage. Furthermore, although link protein was more closely related with aggrecan than versican during limb bud cartilage formation, there was a discrepancy between the expression of aggrecan and link protein in tibial cartilage at E15. In particular, only a link protein-positive region was present in the marginal area of the metaphysis and the epiphysis at this stage. This finding may indicate a novel role for link protein. PMID:14620382

  17. Histologic Examination of an Assemblage of Psittacosaurus (Dinosauria: Ceratopsia) Juveniles From the Yixian Formation (Liaoning, China).

    PubMed

    Bo, Zhao; Hedrick, Brandon P; Chunling, Gao; Tumarkin-Deratzian, Allison R; Fengjiao, Zhang; Caizhi, Shen; Dodson, Peter

    2016-05-01

    Psittacosaurus is one of the most abundant dinosaurs known, which allows for extensive study of its growth and form. Previous studies have evaluated growth trajectories of Psittacosaurus using bone histology. However, we present the first study of Psittacosaurus comparative juvenile histology and describe the histology of Psittacosaurus within its first year of life based on multiple sections taken from an exquisite monospecific assemblage of juveniles from the Yixian Formation in Liaoning, China. Specimens studied had femur lengths ranging from 30 to 36 mm. The five juveniles examined all have similar histologic patterns in the midshaft and epiphyseal regions showing that there is limited plasticity in bone development in juvenile Psittacosaurus and that all of the specimens in the assemblage were likely the same age. The microstructure patterns are compatible with the hypothesis that Psittacosaurus was precocial and that these juveniles were neonates. Based on comparisons with other juvenile ornithischians, juvenile Psittacosaurus had a growth rate similar to Orodromeus, slower than that of Maiasaura, Dysalotosaurus, or hadrosaurs consistent with small body size. Our results support previous studies that demonstrated that the orientation of vascular canals is likely not solely reflective of growth rate, but is also affected by underlying biomechanical, structural processes. The number of studies done on theropod and sauropodomorph histology dwarfs those of ornithischians. More studies of ornithischian histology are necessary in order to better establish phylogenetic trends in microstructure and to learn more about growth in this important clade. PMID:26864238

  18. Complete Traumatic Separation of Proximal Femoral Epiphysis in A 2 Year Old Child

    PubMed Central

    Pal, Chandra Prakash; Kumar, Deepak; Singh, Pulkesh; Gaurav, Vishal

    2014-01-01

    Introduction: Hip fractures are very common in adults, but are rare in children, comprising less than 1% of all pediatric fractures. Separation of the proximal femoral epiphysis can occur in a child with a traumatic hip dislocation and an open epiphysis. Regardless of the mechanism of proximal femoral epiphyseal separation, the prognosis is poor secondary to the development of osteonecrosis. Case Report: Here we are reporting a case of complete separation of the proximal epiphysis of the femur in a 2 year old female child. She was treated by open reduction and internal fixation by a single k-wire of proximal femoral epiphysis. Regular follow up showed fusion of proximal femoral epiphysis at about 3 months of post operative period. After 8 months of follow up she can stand and walk without support. Long term outcome is awaited. Conclusion: Traumatic separation of the proximal femoral epiphysis is a rare but devastating injury because osteonecrosis occurs in most cases. In our study we found fusion of the proximal femoral epiphysis to the neck after 3 months of postoperative period. But to comment upon the final outcome a long follow up is awaited.

  19. A review of terminology for equine juvenile osteochondral conditions (JOCC) based on anatomical and functional considerations.

    PubMed

    Denoix, J-M; Jeffcott, L B; McIlwraith, C W; van Weeren, P R

    2013-07-01

    This manuscript describes a new classification of the various joint-related lesions that can be seen in the young, growing horse based on their anatomical and functional aetiopathogenesis. Juvenile osteochondral conditions (JOCC) is a term that brings together specific disorders according to their location in the joint and their biomechanical origin. When a biomechanical insult affects the process of endochondral ossification different types of osteochondrosis (OC) lesions may occur, including osteochondral fragmentation of the articular surface or of the periarticular margins, or the formation of juvenile subchondral bone cysts. In severe cases, osteochondral collapse of the articular surface or the epiphysis or even an entire small bone may occur. Tension on ligament attachments may cause avulsion fractures of epiphyseal (or metaphyseal) ossifying bone, which are classified as JOCC, but do not result from a disturbance of the process of endochondral ossification and are not therefore classified as a form of OC. The same applies to 'physitis' which can result from damage to the physeal growth plate. PMID:23683533

  20. Development of vascularization in the chondroepiphysis of the rabbit.

    PubMed

    Ganey, T M; Love, S M; Ogden, J A

    1992-07-01

    Although numerous studies have addressed the presence of cartilage canals within developing epiphyses, the chronology of their appearance and their vascular contribution to the developing chondroepiphysis remain to be studied. We have selected a model, similar to the developing human skeletal system, in which extensive cartilage canal development precedes the subsequent secondary ossification process. In the rabbit proximal tibia, both chondroepiphyseal and vascular (cartilage canals) development were quantified from the first evidence of vessels until the formation of the secondary center of ossification. The volume of hyaline cartilage increased 25 times after intraepiphyseal vessels were initially observed. The blood supply, measured in cartilage canal volume, increased 400-fold over the same period. Three distinct cartilage canal morphologies were identifiable before the formation of the secondary center of ossification: (a) an early phase, in which the canals appeared as infoldings derived from the perichondrium; (b) a reactive phase, occurring simultaneously with chondrocyte hypertrophy and characterized by a very large increase in mesenchymal cells within the cartilage canal; and (c) a vascular phase, coincident with mineralization of the matrix, in which the familiar, unitary canal morphology was replaced by that of a vascular plexus. While matrix mineralization and the formation of bone seem dependent on critical cellular events, notably chondrocyte hypertrophy, the role that the vascular supply plays in developing sufficient biological inertia for the ossifying transition must not be underestimated. PMID:1613625

  1. Inactivation of Fam20B in Joint Cartilage Leads to Chondrosarcoma and Postnatal Ossification Defects.

    PubMed

    Ma, Pan; Yan, Wenjuan; Tian, Ye; Wang, Jingya; Feng, Jian Q; Qin, Chunlin; Cheng, Yi-Shing Lisa; Wang, Xiaofang

    2016-01-01

    During endochondral ossification, chondrocytes embed themselves in a proteoglycan-rich matrix during the proliferation-maturation transition. Accumulating evidence shows that proteoglycans are essential components for chondrocyte proliferation and differentiation. When we conditionally inactivated FAM20B (Family with sequence similarity 20 member-B), which is a newly identified xylose kinase essential for glycosaminoglycan (GAG) formation on the protein core of proteoglycans, from the dental mesenchyme using Osr2-Cre, which is also strongly expressed in joint cartilage, we found chondrosarcoma in the knee joint and remarkable defects of postnatal ossification in the long bones. Mechanistic analysis revealed that the defects were associated with gain of function in multiple signaling pathways in the epiphyseal chondrocytes, such as those derived by WNT, BMP, and PTHrP/IHH molecules, suggesting that the FAM20B-catalyzed proteoglycans are critical mediators for a signaling balance in the regulatory network controlling chondrocyte differentiation and proliferation. In particular, we demonstrated that the WNT inhibitor was able to rescue part of the bone defects in Osr2-Cre;Fam20B(fl/fl) mice, indicating that FAM20B-catalyzed proteoglycans regulate postnatal endochondral ossification partially through the mediation of WNT signaling. PMID:27405802

  2. Inactivation of Fam20B in Joint Cartilage Leads to Chondrosarcoma and Postnatal Ossification Defects

    PubMed Central

    Ma, Pan; Yan, Wenjuan; Tian, Ye; Wang, Jingya; Feng, Jian Q.; Qin, Chunlin; Cheng, Yi-Shing Lisa; Wang, Xiaofang

    2016-01-01

    During endochondral ossification, chondrocytes embed themselves in a proteoglycan-rich matrix during the proliferation-maturation transition. Accumulating evidence shows that proteoglycans are essential components for chondrocyte proliferation and differentiation. When we conditionally inactivated FAM20B (Family with sequence similarity 20 member-B), which is a newly identified xylose kinase essential for glycosaminoglycan (GAG) formation on the protein core of proteoglycans, from the dental mesenchyme using Osr2-Cre, which is also strongly expressed in joint cartilage, we found chondrosarcoma in the knee joint and remarkable defects of postnatal ossification in the long bones. Mechanistic analysis revealed that the defects were associated with gain of function in multiple signaling pathways in the epiphyseal chondrocytes, such as those derived by WNT, BMP, and PTHrP/IHH molecules, suggesting that the FAM20B-catalyzed proteoglycans are critical mediators for a signaling balance in the regulatory network controlling chondrocyte differentiation and proliferation. In particular, we demonstrated that the WNT inhibitor was able to rescue part of the bone defects in Osr2-Cre;Fam20Bfl/fl mice, indicating that FAM20B-catalyzed proteoglycans regulate postnatal endochondral ossification partially through the mediation of WNT signaling. PMID:27405802

  3. [Basophilic line of the articular cartilage in normal and various pathological states].

    PubMed

    Gongadze, L R

    1987-04-01

    Epiphyses of long tubular bones in the man and animals of various age, as well as experimental material of the adjuvant arthritis, with special reference to the basal part of the articular cartilage have been studied by means of histological, histochemical and histometrical methods. The structural-chemical organization of the basophilic line (tidemark) of the articular cartilage ensures its barrier role and participation in regulating selective permeability. Reconstruction of the tidemark in the process of physiological ageing and in cases of the articular pathology is aimed to preserve its integrity and in this way a complete differentiation of the noncalcified and calcified structures is secured. Disturbance of the basophilic line results in changes of the articular selective permeability, in invasion of vessels and structural elements of the bone marrow, and in development of profound distrophic and destructive changes of the cartilage--in deforming artrosis. Deflations in the structural-chemical organization of the tidemark indicate certain disturbances in the state of the system articular cartilage--subchondral bone. These data can be of prognostic importance. PMID:3606408

  4. In vivo radiometric analysis of glucose uptake and distribution in mouse bone

    PubMed Central

    Zoch, Meredith L; Abou, Diane S; Clemens, Thomas L; Thorek, Daniel L J; Riddle, Ryan C

    2016-01-01

    Bone formation and remodeling occurs throughout life and requires the sustained activity of osteoblasts and osteoclasts, particularly during periods of rapid bone growth. Despite increasing evidence linking bone cell activity to global energy homeostasis, little is known about the relative energy requirements or substrate utilization of bone cells. In these studies, we measured the uptake and distribution of glucose in the skeleton in vivo using positron-emitting 18F-fluorodeoxyglucose ([18F]-FDG) and non-invasive, high-resolution positron emission tomography/computed tomography (PET/CT) imaging and ex vivo autoradiography. Assessment of [18F]-FDG uptake demonstrated that relative to other tissues bone accumulated a significant fraction of the total dose of the glucose analog. Skeletal accumulation was greatest in young mice undergoing the rapid bone formation that characterizes early development. PET/CT imaging revealed that [18F]-FDG uptake was greatest in the epiphyseal and metaphyseal regions of long bones, which accords with the increased osteoblast numbers and activity at this skeletal site. Insulin administration significantly increased skeletal accumulation of [18F]-FDG, while uptake was reduced in mice lacking the insulin receptor specifically in osteoblasts or fed a high-fat diet. Our results indicated that the skeleton is a site of significant glucose uptake and that its consumption by bone cells is subject to regulation by insulin and disturbances in whole-body metabolism. PMID:27088042

  5. Central Precocious Puberty: Update on Diagnosis and Treatment.

    PubMed

    Chen, Melinda; Eugster, Erica A

    2015-08-01

    Central precocious puberty (CPP) is characterized by the same biochemical and physical features as normally timed puberty but occurs at an abnormally early age. Most cases of CPP are seen in girls, in whom it is usually idiopathic. In contrast, ~50% of boys with CPP have an identifiable cause. The diagnosis of CPP relies on clinical, biochemical, and radiographic features. Untreated, CPP has the potential to result in early epiphyseal fusion and a significant compromise in adult height. Thus, the main goal of therapy is preservation of height potential. The gold-standard treatment for CPP is gonadotropin-releasing hormone (GnRH) analogs (GnRHa). Numerous preparations with a range of delivery systems and durations of action are commercially available. While the outcomes of patients treated for CPP have generally been favorable, more research about the psychological aspects, optimal monitoring, and long-term effects of all forms of GnRHa treatment is needed. Several potential therapeutic alternatives to GnRHa exist and await additional investigation. PMID:25911294

  6. Prenatal ethanol exposure increases osteoarthritis susceptibility in female rat offspring by programming a low-functioning IGF-1 signaling pathway.

    PubMed

    Ni, Qubo; Tan, Yang; Zhang, Xianrong; Luo, Hanwen; Deng, Yu; Magdalou, Jacques; Chen, Liaobin; Wang, Hui

    2015-01-01

    Epidemiological evidence indicates that osteoarthritis (OA) and prenatal ethanol exposure (PEE) are both associated with low birth weight but possible causal interrelationships have not been investigated. To investigate the effects of PEE on the susceptibility to OA in adult rats that experienced intrauterine growth retardation (IUGR), and to explore potential intrauterine mechanisms, we established the rat model of IUGR by PEE and dexamethasone, and the female fetus and 24-week-old adult offspring subjected to strenuous running for 6 weeks were sacrificed. Knee joints were collected from fetuses and adult offspring for histochemistry, immunohistochemistry and qPCR assays. Histological analyses and the Mankin score revealed increased cartilage destruction and accelerated OA progression in adult offspring from the PEE group compared to the control group. Immunohistochemistry showed reduced expression of insulin-like growth factor-1 (IGF-1) signaling pathway components. Furthermore, fetuses in the PEE group experienced IUGR but exhibited a higher postnatal growth rate. The expression of many IGF-1 signaling components was downregulated, which coincided with reduced amounts of type II collagen in the epiphyseal cartilage of fetuses in the PEE group. These results suggest that PEE enhances the susceptibility to OA in female adult rat offspring by down-regulating IGF-1 signaling and retarding articular cartilage development. PMID:26434683

  7. New Options for Vascularized Bone Reconstruction in the Upper Extremity

    PubMed Central

    Houdek, Matthew T.; Wagner, Eric R.; Wyles, Cody C.; Nanos, George P.; Moran, Steven L.

    2015-01-01

    Originally described in the 1970s, vascularized bone grafting has become a critical component in the treatment of bony defects and non-unions. Although well established in the lower extremity, recent years have seen many novel techniques described to treat a variety of challenging upper extremity pathologies. Here the authors review the use of different techniques of vascularized bone grafts for the upper extremity bone pathologies. The vascularized fibula remains the gold standard for the treatment of large bone defects of the humerus and forearm, while also playing a role in carpal reconstruction; however, two other important options for larger defects include the vascularized scapula graft and the Capanna technique. Smaller upper extremity bone defects and non-unions can be treated with the medial femoral condyle (MFC) free flap or a vascularized rib transfer. In carpal non-unions, both pedicled distal radius flaps and free MFC flaps are viable options. Finally, in skeletally immature patients, vascularized fibular head epiphyseal transfer can provide growth potential in addition to skeletal reconstruction. PMID:25685100

  8. Further evidence of POP1 mutations as the cause of anauxetic dysplasia.

    PubMed

    Elalaoui, Siham Chafai; Laarabi, Fatima Zahra; Mansouri, Maria; Mrani, Nidal Alaoui; Nishimura, Gen; Sefiani, Abdelaziz

    2016-09-01

    Anauxetic dysplasia (AAD, OMIM 607095) is a rare skeletal dysplasia inherited as an autosomal recessive trait, which is caused by mutations in RMRP and allelic to a more common disorder, cartilage hair hypoplasia (CHH). CHH is a multi-system disorder with a variety of extraskeletal changes. Whereas AAD is a bone-restricted disorder with a more severe skeletal phenotype: affected individuals are extremely short and complicated by orthopedic morbidity, and the radiological changes include modification of the vertebral bodies and epiphyseal dysplasia of the hip, as well as generalized metaphyseal dysplasia and severe brachydactyly. Recently, genetic heterogeneity for AAD was proposed, because a familial case (two affected sibs) with an AAD-identical phenotype had compound heterozygous mutations in POP1, encoding a molecule functionally related to the gene product of RMRP. We report here a 5-year-old boy with the same phenotype born to a consanguineous couple. We identified a novel homozygous POP1 mutation (c.1744C>T, p.P582S) in the boy and the heterozygosity in the parents. It may be rational to coin the POP1-associated skeletal phenotype AAD type 2. © 2016 Wiley Periodicals, Inc. PMID:27380734

  9. Measuring apparent trabecular structure with pQCT: a comparison with HR-pQCT.

    PubMed

    Lala, Deena; Cheung, Angela M; Lynch, Cheryl L; Inglis, Dean; Gordon, Chris; Tomlinson, George; Giangregorio, Lora

    2014-01-01

    We evaluated how comparable peripheral quantitative computed tomography (pQCT) measurements of cortical thickness, density, and apparent trabecular structure at the ultradistal tibia were with those measured with high-resolution pQCT (HR-pQCT). We also examined whether the accuracy of the pQCT-based trabecular and cortical measurements improved with reductions in slice thickness from the standard 2.2mm to 1.1 and 0.6mm. We immersed 15 dry tibia specimens in saline in a sealed cylinder and scanned 22.5mm from the distal tibia plateau using pQCT and HR-pQCT. pQCT underestimated cortical thickness by Stratec (CThStratec) and trabecular spacing (Tb.Sp) by 21.4% and 72.9%, whereas bone volume to total volume (BV/TV) and cortical density (CDen) were overestimated by 265.8% and 13.1%, respectively. Measurements of trabecular volumetric bone mineral density, trabecular area, total area, cortical thickness by custom software were comparable, but for CThStratec, Tb.Sp, BV/TV, and CDen, the differences between imaging devices varied with magnitude of the estimate. We recommend that researchers or clinicians interested in using pQCT to measure apparent trabecular structure or cortical thickness at the epiphyses, or in comparing findings from different devices, be aware of the differences between HR-pQCT and pQCT. PMID:23567093

  10. Identical male twins and brother with Cockayne syndrome.

    PubMed

    Houston, C S; Zaleski, W A; Rozdilsky, B

    1982-10-01

    The clinical, radiological, and neuropathological findings in early onset Cockayne syndrome are illustrated in identical twins and their brother. Their appearance of dwarfism with small head and prominent beaked nose strongly resembled that seen in the Seckel syndrome, but unlike patients with that syndrome they had a normal birth weight (for twins), thick cranial vaults, intracranial calcification, and a severe degree of mental retardation. The twins were deaf and blind, with optic atrophy and retinal pigmentation, while their brother had cataracts. Their hands and feet were large in proportion to their small trunk. They had cutaneous sensitivity to any slight exposure to ultraviolet light and severe neurologic problems with incoordination and spasticity. Radiologic findings included microcephaly, a thick cranial vault, a small pelvis, coxa valga, and "ivory epiphyses" in terminal phalanges of hands and feet. Pathologic findings included atrophy of white matter with widespread patchy demyelination, and massive siderocalcific deposits in the brain, particularly in the basal ganglia and cerebellum. While autosomal recessive inheritance is most likely, formally X-linked inheritance cannot be excluded. PMID:6890311