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Sample records for epiphyses

  1. Distal humeral epiphyseal separation.

    PubMed

    Moucha, Calin S; Mason, Dan E

    2003-10-01

    Distal humeral epiphyseal separation is an uncommon injury that is often misdiagnosed upon initial presentation. To make a timely, correct diagnosis, the treating physician must have a thorough understanding of basic anatomical relationships and an awareness of the existence of this injury. This is a case of a child who sustained a separation of the distal humeral epiphysis, as well as multiple other bony injuries, secondary to child abuse.

  2. Pubertal growth and epiphyseal fusion

    PubMed Central

    2015-01-01

    The complex networks of nutritional, cellular, paracrine, and endocrine factors are closely related with pubertal growth and epiphyseal fusion. Important influencing factors include chondrocyte differentiation capacity, multiple molecular pathways active in the growth plate, and growth hormone-insulin-like growth factor-I axis activation and epiphyseal fusion through estrogen and its receptors. However, the exact mechanisms of these phenomena are still unclear. A better understanding of the detailed processes involved in the pubertal growth spurt and growth plate closure in longitudinal bone growth will help us develop methods to efficiently promote pubertal growth and delay epiphyseal fusion with fewer adverse effects. PMID:25883921

  3. Multiple epiphyseal dysplasia

    PubMed Central

    2009-01-01

    Background Multiple epiphyseal dysplasia (MED) is a common genetically and clinically heterogeneous skeletal dysplasia characterized by early-onset osteoarthritis, mainly in the hip and knee, and mild-to-moderate short stature. Here we report on a 6-generation MED family with 17 affected members. Method The clinical and radiographic data on the 12 affected members still living were scrutinized. A structured inquiry comprising state of health and MED-related symptoms since birth up to the present time and the osteoarthritis outcome (KOOS) questionnaire were sent to all living family members with MED. The 5 known gene loci for autosomal dominant MED were analyzed for linkage, using fluorescence-labeled microsatellite markers. Linkage was ascertained with markers close to the COL9A2 gene, which was analyzed for mutations by sequencing. Results We identified an exon 3 donor splice mutation in the COL9A2 gene in all affected family members. Clinical, radiographic, and questionnaire data from affected family members suggested that MED caused by COL9A2 mutations starts in early childhood with knee pain accompanied by delayed ossification of femoral epiphyses. The disease then either stabilizes during puberty or progresses with additional joints becoming affected; joint surgery might be necessary. The progression of the disease also affects muscles, with increasing atrophy, resulting in muscle fatigue and pain. Muscular atrophy has not been reported earlier in cases with COL9A2 mutations. Interpretation In a patient with clinically suspected or verified MED, it is important to perform DNA-based analysis to identify a possible disease-causing mutation. This information can be used to carry out genetic risk assessment of other family members and to achieve an early and correct diagnosis in the children. PMID:19995321

  4. Epiphyseal plate transplantation: an historical review.

    PubMed

    Boyer, M I; Bray, P W; Bowen, C V

    1994-12-01

    Non-vascularized and vascularized transplantation of epiphyseal plate autografts have been performed both clinically and experimentally for over 100 years. However, the ultimate clinical goal of vascularized transplantation of epiphyseal plate allografts for paediatric extremity reconstruction remains elusive, due primarily to the lack of suitably nontoxic techniques to prevent graft rejection. We have summarized the published clinical and experimental investigations of vascularized epiphyseal plate transplantation, and organized the experiments and clinical operations into four main groups: (1) local vascular studies on unmanipulated epiphyseal plates, (2) studies of epiphyseal plate behaviour after orthotopic replantation, (3) studies of epiphyseal plate behaviour after heterotopic transplantation, and (4) studies of epiphyseal plate behaviour after allograft transplantation. Prior investigations into the non-vascularized transplantation of epiphyseal plate autografts and allografts are presented as background. These groups of studies serve as the building blocks for the more clinically applicable experimental investigations outlined in the final section of this review. PMID:7697285

  5. Slipped epiphyses in renal osteodystrophy.

    PubMed Central

    Mehls, O; Ritz, E; Krempien, B; Gilli, G; Link, K; Willich, E; Schärer, K

    1975-01-01

    Clinical, biochemical, roentgenological, and histological features of slipped epiphyses (epiphysiolysis) in 11 out of 112 children with renal osteodystrophy have been analysed. Characteristic age-related patterns of involvement of different epiphyses are described. Quantitative measurements of iliac bone histology, serum parathyroid hormone levels, and clinical history show the presence of more advanced osteitis fibrosa in children with epiphysiolysis than in those without. A good correlation was found between serum parathormone levels and osteoclastic resorption, endosteal fibrosis as well as osteoid. Histological studies show that the radiolucent zone between the epiphyseal ossification centre and the metaphysis in x-rays is not caused by accumulation of cartilage and chondro-osteoid (as usually found in vitamin D deficiency rickets) but by the accumulation of woven bone and/or fibrous tissue. The response to vitamin D therapy in most cases was good. Parathyroidectomy was required in only one case. Images FIG. 1. FIG. 2. p549-b FIG. 3. FIG. 4. FIG. 5. FIG. 6. FIG. 7. PMID:1167068

  6. 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

  7. The epiphyseal tubercle in adolescent hips

    PubMed Central

    2009-01-01

    Background It has already been shown in animals and using anatomical human specimens that chronic slippage of the adolescent upper (capital) femoral epiphysis is unlikely to take place by shearing due to the presence of an epiphyseal tubercle projecting down into the metaphysis. Material, results, and interpretation Plain radiographs of 20 adolescents and CT scans of 9 of them were analyzed for evidence of the size and presence of this tubercle in vivo. These cases showed that CT scanography is the investigation of choice to illustrate this largely undescribed anatomical feature. They also illustrate the epiphyseal tubercle well, both in the anatomical position and at various stages of “epiphyseal slippage”, and confirm that it has a significant restraining effect on any tendency of the epiphysis to alter its position relative to the metaphysis. PMID:19626468

  8. [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

  9. Genetic heterogeneity in multiple epiphyseal dysplasia

    SciTech Connect

    Deere, M.; Blanton, S.H.; Scott, C.I.

    1994-09-01

    Multiple epiphyseal dysplasia (MED) is generally an autosomal dominant hereditary chondrodystrophy characterized by abnormal epiphyseal centers of the long bones. There are at least two clinical and radiographical MED phenotypes, Fairbank and Ribbing forms, with the former having been better characterized. While less frequent, there are also reports of an autosomal recessive type which does not differ radiographically from the autosomal dominant type. Recently, a family with MED has been shown to map to the pericentromeric region of chromosome 19. We have tested linkage to six short tandem repeat markers from chromosome 19 in three multigenerational families with Fairbank MED and another MED family in which there were three of seven affected siblings with unaffected parents. The three families with autosomal dominant MED were linked to D19S215 with a maximum lod score of 3.82 at {theta} = 0.0. Linkage to chromosome 19 was excluded in the fourth family under autosomal recessive and autosomal dominant models with either reduced penetrance or germline mosaicism. Lod scores were -{infinity} and -2.37 at {theta} = 0.0 for D19S215, respectively. Linkage to candidate genes, Col9A1, Col9A2, and Col11A1 was tested and excluded for both models in this family. Col11A1 was excluded under a recessive model. We have confirmed linkage of MED, Fairbank, to chromosome 19 and demonstrated that MED is genetically heterogeneous.

  10. 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

  11. Os trigonum syndrome in a patient with multiple epiphyseal dysplasia.

    PubMed

    Molay, M; Wilson, R; Lasker, A

    1982-01-01

    Multiple epiphyseal dysplasia (M.E.D.) is a rare, congenital, developmental condition characterized by epiphyseal abnormalities. Salient features of this condition are discussed. A case history is presented of a patient with os trigonum and coexisting M.E.D. The importance of weight reduction and control of excessive pronatory forces is emphasized in patients with M.E.D., thus reducing chronic microtrauma to foot structures.

  12. Genetic heterogeneity in multiple epiphyseal dysplasia

    SciTech Connect

    Deere, M.; Hecht, J.T.; Blanton, S.H.; Scott, C.I.; Langer, L.O.; Pauli, R.M.

    1995-03-01

    Multiple epiphyseal dysplasia (MED) comprises a group of hereditary chondrodysplasias in which there are major anatomic abnormalities of the long tubular bones. The Fairbank and Ribbing types are the most frequently cited types of MED. They are primarily defined radiographically and are autosomal dominant conditions. Recently, MED in one family was shown to map to the pericentromeric region of chromosome 19 and is probably allelic to pseudoachondroplasa. We have tested linkage with six short tandem repeat markers from chromosome 19 to autosomal dominant MED in one four-generation family and to MED in a unique family with three of seven siblings affected and with unaffected parents. Autosomal dominant MED in family 1 was linked with a maximum LOD score, at D19S212, of 3.22 at a recombination fraction ({theta}) of .00. Linkage to chromosome 19 was excluded with MED in the other family, under both autosomal recessive and autosomal dominant, with either reduced-penetrance or germ line-mosaicism models. Linkage to candidate genes COL9A1, COL9A2, and COL11A2 was tested and excluded for both genetic models in this family. COL11A1 was excluded under a recessive model. We have confirmed linkage of autosomal dominant Fairbank MED to chromosome 19 and have demonstrated that MED is genetically heterogeneous. 16 refs., 9 figs., 3 tabs.

  13. 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.

  14. Role of epiphyseal cartilage in endochondral bone formation.

    PubMed

    Leach, R M; Gay, C V

    1987-04-01

    The avian epiphyseal growth plate plays an important role in skeletal development. Compared with the mammalian species, the avian growth plate contains more cells, is less well organized and appears more susceptible to malformation. Abnormal cartilage development is associated with chondrodystrophy, tibial dyschondroplasia and rickets. Many nutrient deficiencies result in chondrodystrophy, which is characterized by shortened, thickened bones and a narrowing of the epiphyseal growth plate. Manganese, the most extensively studied of these deficiencies, is necessary for proteoglycan biosynthesis. Tibial dyschondroplasia is a condition in which the prehypertrophic cells fail to hypertrophy and vascularization is aborted. This abnormality is found in genetically predisposed animals and its occurrence is altered by subtle changes in calcium, phosphorus and electrolyte content of the diet. Calcium and vitamin D deficiencies cause rickets, which is characterized by an increase in the width of the prehypertrophic zone of the epiphyseal growth plate. Most of the biochemical and histological changes can be related to the need for calcium for chondrocyte hypertrophy and maturation, although there is some evidence that chondrocytes require specific vitamin D metabolites. Phosphorus deficiency increases the zones of hypertrophy and metaphyseal primary spongiosa.

  15. Peri-epiphyseal and Overuse Injuries in Adolescent Athletes

    PubMed Central

    Frush, Todd J.; Lindenfeld, Thomas N.

    2009-01-01

    Context: Overuse injuries of the musculoskeletal system in immature athletes are commonly seen in medical practice. Evidence Acquisition: An analysis of published clinical, outcome, and biomechanical studies of adolescent epiphyseal and overuse injuries was performed through 2008 to increase recognition and provide treatment recommendations. Results: Adolescent athletes can sustain physeal and bony stress injuries. Recovery and return to play occur more swiftly if such injuries are diagnosed early and immobilized until the patient is pain-free, typically about 4 weeks for apophyseal and epiphyseal overuse injuries. Certain epiphyseal injuries have prolonged symptoms with delayed treatment, including those involving the bones in the hand, elbow, and foot. If such injuries are missed, prolonged healing and significant restrictions in athletic pursuits may occur. Conclusion: Some of these injuries are common to all weightbearing sports and are therefore widely recognized. Several are common in gymnastics but are rarely seen in other athletes. Early recognition and treatment of these conditions lead to quicker recovery and so may prevent season-ending, even career-ending, events from occurring. PMID:23015873

  16. Bilateral epiphyseal fractures of the proximal tibia within a six-month interval: a case report.

    PubMed

    Takai, S; Yoshino, N; Kubo, Y; Suzuki, M; Hirasawa, Y

    2000-11-01

    An epiphyseal fracture commonly results from avulsion of the epiphysis by traction through the attached ligaments. A fracture of the proximal tibial epiphysis is, therefore, a rare injury because of the absence of collateral ligament attachments. Most proximal tibial epiphyseal injuries occur as avulsion fractures of the tibial tubercle; Salter-Harris Types I or II injuries involving pressure epiphyses are rare. In the current case of a thirteen-year-old boy, the proximal tibial epiphyseal injuries in both knees occurred during quadriceps contraction in the absence of violent trauma, and there was a six-month interval between the two injuries.

  17. 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

  18. Distal humeral epiphyseal separation in a young athlete: a case report.

    PubMed

    Podesta, L; Sherman, M F; Bonamo, J R

    1993-11-01

    Elbow pain in the young throwing athlete can have numerous etiologies. Skeletally immature athletes commonly sustain epiphyseal injuries secondary to trauma and/or repetitive activity. The case of a 7-year-old Little League pitcher with the diagnosis of distal humeral epiphyseal separation is presented along with a review of the current literature.

  19. Epiphyseal stapling for angular deformity at the knee.

    PubMed

    Zuege, R C; Kempken, T G; Blount, W P

    1979-04-01

    Fifty six patients with angular deformities of eighty-two knees were treated with epiphyseal stapling between 1954 and 1973 and followed until maturity. There were sixty-four knock-knees and eighteen bowlegs. In twelve patients with concurrent leg-length discrepancies, long legs were stapled asymmetrically. The deformities were allowed to overcorrect before the staples were removed, but the rebound phenomenon occurred in twenty-two patients with thirty-five deformities. In older children the staples were taken out when the legs looked straight. Exaggerated physiological deformities may correct spontaneously. They should not be stapled before the skeletal age of eleven in girls and twelve in boys. Secondary deformities are corrected earlier. There were no significant complications. Ten revisions of staples were necessary because of extrusion or shifting. The results were satisfactory or improved in 87 per cent of the deformities. When it is indicated epiphyseal stapling is a safe and effective method of correcting angular deformity at the knee in growing children.

  20. Epiphyseal fusion in Pan troglodytes relative to dental age.

    PubMed

    Brimacombe, Conrad S; Kuykendall, Kevin L; Nystrom, Pia

    2015-05-01

    Previous studies on different aspects of chimpanzee growth and development have documented dental eruption and development, long bone and somatic growth, and to a lesser extent, skeletal fusion. Such data are useful in comparative and evolutionary studies of growth and some aspects of life history evolution in apes and early hominids. However, few studies have integrated dental development and other aspects of skeletal development, and none of these have been able to incorporate a large study sample. This study documents dental mineralization and skeletal epiphyseal fusion in a mixed-sex sample of 155 Pan troglodytes skeletons, and aims to: a) document the pattern of dental and skeletal developmental in chimpanzees; b) compare male and female developmental patterns in chimpanzees; and c) compare these chimpanzee developmental patterns to general patterns of dental and skeletal development in published human studies. The analysis of both dental and skeletal development in this sample demonstrates clearly that dental development is complete before the fusion of the many skeletal epiphyses, in contrast to the pattern observed in humans. Age estimates for individuals were calculated using previously published regression equations for dental development and used to estimate fusion ages. These appear to be accurate in that our estimates are similar to published ranges. These data improve our understanding about chimpanzee dental and skeletal development and provide a basis for further comparison between extant apes and humans, as well as those extinct species represented by fossil partial skeletons.

  1. Epiphyseal osteosarcoma revisited: four illustrative cases with unusual histopathology and literature review.

    PubMed

    Chow, Louis Tsun Cheung; Wong, Simon Kwok Chuen

    2015-01-01

    Osteosarcomas arising in the epiphysis are extremely rare and easily missed in the diagnostic consideration of epiphyseal tumors. It is the purpose of this study to delineate the clinical pathological characteristics of 'epiphyseal osteosarcoma' under the definition of 'a solitary long bone osteosarcoma radiographically considered an epiphyseal tumor for which the main radiologic differential diagnosis would encompass giant cell tumor, chondroblastoma and clear cell chondrosarcoma'. Four such cases with unusual histopathology were retrieved among 110 cases of osteosarcoma. Their clinical, radiological and pathological features, together with all 10 reported cases, were analyzed. The radiographic diagnoses of our four cases include two giant cell tumors, one chondroblastoma and one clear cell chondrosarcoma but turn out to be fibroblastic, giant cell rich, telangiectatic and epithelioid variant of epiphyseal osteosarcoma. Including our patients, the 14 reported epiphyseal osteosarcomas comprise 8 males and 6 females, the age at presentation ranges from 11 to 39 years, two-third in the second decade, 71.4% affect the femur. Due to their epiphyseal locations, many carry benign radiological diagnoses notably giant cell tumor and chondroblastoma. Epiphyseal osteosarcomas may not only masquerade as benign radiological bony lesions but also assume many histological patterns; orthopedic surgeons, radiologists and pathologists should be aware of such possibility. Their behavior and prognosis are dictated by the histologic types, grading and staging rather than location. PMID:25244180

  2. 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).

  3. 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

  4. Posterior sternoclavicular epiphyseal fracture-dislocation with delayed diagnosis.

    PubMed

    Carmichael, Kelly D; Longo, Anthony; Lick, Scott; Swischuk, Leonard

    2006-08-01

    Posterior sternoclavicular joint dislocations and epiphyseal fractures are relatively rare injuries. We present a case report of a 16-year-old male who presented with a 10-day delay in diagnosis. The medial clavicular fragment was widely displaced and rested against the cervical vertebral body. Despite the degree of displacement, the patient had very few symptoms, and the diagnosis was not appreciated in the emergency department and became apparent at 10-day clinic follow-up. Treatment consisted of attempts at closed reduction, which were not successful. Open reduction was performed and the repair done with strong sutures. At 1-year follow-up the patient is doing well without any symptoms. A literature review consisting of anatomy, ossification patterns, classification systems, diagnosis and associated symptoms, imaging recommendations, treatment recommendations, outcomes, and complications is included.

  5. Structural differences in epiphyseal and physeal hypertrophic chondrocytes

    PubMed Central

    Shapiro, Frederic; Flynn, Evelyn

    2015-01-01

    We have observed that epiphyseal and physeal hypertrophic chondrocytes in BALB/c mice show considerable differences of light microscopic and ultrastructural appearance, even when the cells are at the same stage of differentiation. In addition, cell structure maintenance improved with tissue preparation controlled for osmolarity and for membrane stabilization using 0.5% ruthenium hexammine trichloride (RHT) for both light microscopy (LM) and electron microscopy (EM) or 0.5% lanthanum nitrate for LM. Physeal hypertrophic chondrocytes showed a gradual increase in size closer to the metaphysis and a change in shape as cells elongated along the long axis. The nucleus remained central, with uniformly dispersed chromatin, and the rough endoplasmic reticulum (RER) was randomly dispersed throughout cytoplasm with little to no presence against the cell membrane. Even the lowermost cells showed thin elongated or dilated cisternae of RER and intact cell membranes. Epiphyseal chondrocytes remained circular to oval with no elongation. Nucleus and RER were positioned as a complete transcellular central nucleocytoplasmic column or as an incomplete bud with RER of the column/bud always continuous with RER peripherally against the intact cell membrane. RER was densely packed with parallel cisternae with adjacent cytoplasm empty of organelles but often filled with circular deposits of moderately electron-dense material consistent with fat. Optimal technique for LM involved fixation using glutaraldehyde (GA) 1.3%, paraformaldehyde (PFA) 1% and RHT 0.5% (mOsm 606) embedded in JB-4 plastic and stained with 0.5% toluidine blue. Optimal technique for EM used fixation with GA 1.3%, PFA 1%, RHT 0.5% and cacodylate buffer 0.03 M (mOsm 511) and post-fixation including 1% osmium tetroxide. These observations lead to the possibility that the same basic cell, the hypertrophic chondrocyte, has differing functional mechanisms at different regions of the developing bone. PMID:25987982

  6. 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

  7. Ontogenetic changes in the epiphyseal cartilage of Rana (Pelophylax) caralitana (Anura: Ranidae).

    PubMed

    Erismis, Ugur Cengiz; Chinsamy, Anusuya

    2010-11-01

    We document histological changes through ontogeny in the epiphyseal cartilage of the third phalanx of Rana caralitana from Turkey and provide an assessment of the maturation of the epiphysis from newly metamorphosed froglets to 10-year-old individuals. The epiphysis of R. caralitana is compared to other Rana taxa previously studied, and we report on novel histological data pertaining to later stages of epiphyseal growth in this taxon. In addition, we document the development of endochondral ossification in late stages of ontogeny in R. caralitana. Our results suggest a correlation between the long lifespan of R. caralitana and the developmental changes and maturation of the epiphyseal cartilage in this taxon. This study also provides a quantitative assessment of the different regions of the epiphyseal cartilage in the epiphysis of Rana through ontogeny, and has therefore permitted quantifiable deductions about the relative maturation and differentiation of the chondrocytes of the epiphysis through time.

  8. A Rare Case of Epiphyseal Chondromyxoid Fibroma of the Proximal Tibia

    PubMed Central

    Kim, Byoung-Suck; Joo, Jong-Eun; Park, Yong-Koo; Lee, Seok Hoon; Song, Baek Yong

    2011-01-01

    Chondromyxoid fibroma is an uncommon benign cartilaginous tumor of the bone. It occurs most frequently in the metaphysis of long tubular bones, and an epiphyseal location is exceedingly rare. We present here an unusual case of a chondromyxoid fibroma that occurred in the epiphysis of the proximal tibia with an open growth plate. MR imaging findings of this tumor, which has, to the best of our knowledge, never been described in an epiphyseal location, makes the present case unique. PMID:22043162

  9. 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.

  10. Molybdenum-induced changes in the epiphyseal growth plate.

    PubMed

    Parry, N M; Phillippo, M; Reid, M D; McGaw, B A; Flint, D J; Loveridge, N

    1993-09-01

    Molybdenum (Mo), at high concentrations, induces changes in the epiphyseal growth plate through its effects on copper (Cu) metabolism but it is unclear whether or not Mo can induce changes independent of its effects on copper status. To this end, the effect of Mo on longitudinal bone growth was examined in rats. Dietary Mo was given either as ammonium heptamolybdate or as ammonium tetrathiomolybdate, the latter producing a marked Cu deficiency. There was a significant reduction in longitudinal bone growth in both groups; however, growth plate width was increased only in the Cu-deficient animals due to an increase in the width of the zone of transitional/hypertrophic chondrocytes. Both glucose 6-phosphate dehydrogenase activity and cell proliferation (assessed by bromodeoxyuridine incorporation) were markedly decreased in the proliferating zone of the growth plate in both Mo-treated groups. These changes were not apparently related to changes in circulating vitamin D metabolites or insulin-like growth factor-1. The results indicate that excess Mo impairs cell proliferation within the growth plate, whereas the effects of copper deficiency are more related to chondrocyte differentiation. Thus, Mo can induce changes in longitudinal bone growth which are distinct from those resulting from Cu deficiency.

  11. Carpals and epiphyses of radius and ulna as age indicators.

    PubMed

    Cameriere, Roberto; Ferrante, Luigi; Mirtella, Dora; Cingolani, Mariano

    2006-05-01

    Estimation of skeletal age using radiographic images is widely used for assessing biological growth in clinical and auxological studies. The most frequent areas used for age estimation in children and adolescents are tooth and wrist/hand, both giving good results with only a low level of radiation. In particular, ossification of the carpals shows good agreement with chronological age. This study of a sample of 150 Italian children and adolescents aged between 5 and 17 years focused on analyzing the possible applications of the proportion of carpal area (Ca) mineralization as a criterion of age estimation. The ratio between the total area of carpal bones and epiphyses of the ulna and radius (Bo) and Ca was calculated. This ratio (Bo/Ca) was used for linear regression analysis. The regression model, describing age as a linear function of the ratio Bo/Ca, yielded the following equation: Age=-3.253+0.719 g+20.610 Bo/Ca, and explained 83% of the total variance (R (2)=0.83). The median of the absolute values of residuals (observed age minus predicted age) was 0.08 years, with a quartile deviation of 1.59 years, and a standard error of estimate of 1.19 years.

  12. 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

  13. Foci of chronic circumscribed osteomyelitis (Brodie's abscess) that traverse the epiphyseal plate.

    PubMed

    Bogoch, E; Thompson, G; Salter, R B

    1984-03-01

    We observed six children who presented with chronic circumscribed osteomyelitis involving the adjacent metaphysis and epiphysis of a long bone, communicating through and damaging the growth cartilage of the epiphyseal plate. Four of the six children were less than or equal to 10 years of age. All six patients presented with the mild symptoms and subtle clinical findings that are characteristic of "Brodie's abscess," which is usually confined to metaphyseal, or occasionally epiphyseal, bone. Four children were treated with antibiotics and by surgical evacuation of the abscess, with visualization of the defect in the epiphyseal plate. Two children were treated with antibiotics alone, initially by the intravenous route. At follow-up 2-14 years after treatment, all affected children had a normal result without evidence of growth disturbance. There are seven previously reported cases of chronic circumscribed osteomyelitis traversing the epiphyseal plate that resulted in growth disturbance. Based on our experience and that reported in the literature, we believe that the intravenous administration of appropriate antibiotics in high doses, followed by oral antibiotics, is sufficient treatment for some children presenting with this condition. The pathogenic organism is likely to be Staphylococcus aureus. Surgical evacuation of the lesion should be performed for acute osteomyelitis involving the epiphyseal plate, for sinus formation or drainage into a synovial joint, for failure of the patient to respond clinically to nonoperative therapy, and for confirmation of the diagnosis if doubt exists.

  14. 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

  15. 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

  16. Abnormality of epiphyseal plate induced by selenium deficiency diet in two generation DA rats.

    PubMed

    Min, Zixin; Zhao, Wenxiang; Zhong, Nannan; Guo, Yuanxu; Sun, Mengyao; Wang, Quancheng; Zhang, Rui; Yan, Jidong; Tian, Lifang; Zhang, Fujun; Han, Yan; Ning, Qilan; Meng, Liesu; Sun, Jian; Lu, Shemin

    2015-08-01

    This study aimed to observe the effects of Se deficiency on epiphyseal plates of two generation DA rats fed with artificial total synthetic low Se diet. All F0 and F1 DA rats were fed with synthetic low Se diet (SeD group) and low Se diet supplied with Se (SeS group). The levels of selenium and enzyme activities of GPx were detected in plasma of the rats. General growth of bone and articular cartilage was measured macroscopically and microscopically. The epiphyseal plate of femur heads or tibia were obtained to histological and immunohistochemical examinations. The cartilage from left knee joints and femur heads was used to detect the gene expression of collagens, ADAMTSs and several selenoproteins by RT-qPCR. Two generation SeD rats showed Se insufficiency status. The thicknesses of the femur and tibial epiphyseal plates in both F0 and F1 SeD rats were significantly less than that of SeS rats. In F1 generation, SeD rats showed much fewer proliferative chondrocyte layers than SeS ones. Importantly, two generation SeD rats both showed significantly more serious pathological changes of epiphyseal plates. In two generation rats, gene expressions of COL II, GPx1 and GPx4 were significantly down-regulated in SeD rats than SeS ones; meanwhile ADAMTS-4 showed an up-regulated expression in cartilage. Dietary Se deficiency can apparently cause epiphyseal plate lesion and decrease cartilage type II collagen production and GPx1 activity in two generation DA rats fed with the artificial total synthesis low Se diet.

  17. Anthropometric studies in five children and their mother with a severe form multiple epiphyseal dysplasia.

    PubMed

    Villarreal, T; Carnevale, A; Mayén, D G; Takenaga, R; del Castillo, V

    1992-02-15

    We report on a form of multiple epiphyseal dysplasia with striking acromelic shortness in a woman and five of her ten children. The somatometric and metacarpo-phalangeal pattern profile of the affected individual showed short limb dwarfism and shortness of all the tubular bones of the hand. Epiphyseal irregularities and shortness of the 4th metatarsal bones were outstanding. The disorder showed a dominant and probably autosomal pattern of inheritance with variability of expression. The measurement of metacarpo-phalangeal profiles allowed an objective and quantitative assessment of brachydactyly. In the family reported here, there was a clear discrepancy between the severity of shortness of hands and feet and the severity of shortness of stature. This family also illustrates the effects of a single gene in a large kindred, therefore describing the range and variability of a phenotype not otherwise available. PMID:1609821

  18. [Sports-induced epiphyseal injuries of the knee and ankle joint].

    PubMed

    Krüger-Franke, M; Vaeltl, M; Trouillier, H; Pförringer, W

    1994-06-01

    We report on the clinical and radiological follow-up results of 37 patients with epiphyseal injuries of the knee and ankle joint who were treated in our hospital between 1985 and 1990. Most of the ankle joint injuries were sustained during track and field, soccer and basketball, and most of the knee injuries during alpine skiing. The different mechanisms of injuries of the knee and ankle joint are discussed on the basis of our own results. The therapy considers the age of patient as well as localisation and type of the epiphyseal injury. In spite of this, growth disturbances occurred in 12.5% of the ankle joint and in 9.5% of the knee joint injuries.

  19. Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia.

    PubMed Central

    Holden, P; Canty, E G; Mortier, G R; Zabel, B; Spranger, J; Carr, A; Grant, M E; Loughlin, J A; Briggs, M D

    1999-01-01

    Multiple epiphyseal dysplasia (MED) is a genetically heterogeneous disorder with marked clinical and radiographic variability. Traditionally, the mild "Ribbing" and severe "Fairbank" types have been used to define a broad phenotypic spectrum. Mutations in the gene encoding cartilage oligomeric-matrix protein have been shown to result in several types of MED, whereas mutations in the gene encoding the alpha2 chain of type IX collagen (COL9A2) have so far been found only in two families with the Fairbank type of MED. Type IX collagen is a heterotrimer of pro-alpha chains derived from three distinct genes-COL9A1, COL9A2, and COL9A3. In this article, we describe two families with distinctive oligo-epiphyseal forms of MED, which are heterozygous for different mutations in the COL9A2 exon 3/intron 3 splice-donor site. Both of these mutations result in the skipping of exon 3 from COL9A2 mRNA, but the position of the mutation in the splice-donor site determines the stability of the mRNA produced from the mutant COL9A2 allele. PMID:10364514

  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. Morphological changes of epiphyseal plate in the long bone of chondrodysplastic dwarfism in Japanese brown cattle.

    PubMed

    Moritomo, Y; Ishibashi, T; Miyamoto, H

    1992-06-01

    A total of 20 cases of disproportionate calves on Japanese Brown cattle were examined morphologically. Investigation of 5 affected calves revealed that the insufficiency of endochondral ossification was confined only to the long bones of the limbs and was not accompanied by other associated changes. On the basis of the histological changes of epiphyseal plate and the affected site, this condition may be called chondrodysplasia of the rhizomelic type. Therefore, this disorder was defined as a bovine dwarfism. From three dimensional image analysis and histological changes of the tibial proximal portion in the other 15 cases, deformity and shortness of the tibia were related to the state of distribution and the degree of damages of the epiphyseal plate. In the affected cartilage matrix, cystoid degeneration, fibrous striation, bone spicule, necrotic foci and rent were found. Inadequate metachromasia suggests the abnormal staining of sulfated glycosaminoglycans and alcian blue stainability may be attributable to the abnormal interactions between proteoglycan and other matrix components. At the interface of cartilage and bone, irregular calcification, fibrotic scar and sealing by osseous tissue with relation to vascularity were found. These changes in this study indicated the failure of modeling on the epiphyseal plate, showing disturbance of chondrocytic differentiation and abnormal formation of the matrix.

  2. Angel-shaped phalango-epiphyseal dysplasia (ASPED): identification of a new genetic bone marker.

    PubMed

    Giedion, A; Prader, A; Fliegel, C; Krasikov, N; Langer, L; Poznanski, A

    1993-10-01

    We describe a "new" mild malformation of the phalanx, which we call the "angel-shaped phalanx" (ASP) because of its resemblance to the little angels used for the decoration of Christmas trees. A particular middle phalangeal type of ASPs is found in a distinct variety of multiple epiphyseal dysplasia with marked retardation of bone age and severe coxarthrosis in adult life, previously reported as "hereditary peripheral dysostosis" [Bachman, 1967: Proc R Soc Med 60:21-22; Giedion, 1969: Fortschr Rontgenstr 110:507-524]. However, these authors overlooked the unique configuration of the middle phalanges. We renamed the condition "angel-shaped phalango-epiphyseal dysplasia (ASPED)", which may be transmitted in an autosomal-dominant manner. Six new patients are added, bringing the total to nine patients (two families and two isolated patients). ASPs were seen in five of six children. The ASPs grew into inconspicuous brachydactyly after physeal closure (3/3). The most important additional radiological finding is late and dysplastic development of both femoral heads (5/5), leading to Perthes-like and osteoarthritic changes and severe hip pain in the early thirties (2/2 adults, having reached this age). The marked retardation of carpal bone age may lead to unnecessary clinical evaluation for endocrine disorders. Less frequent clinical manifestations of ASPED are hyperextensibility of the interphalangeal joints (7/9) and hypodontia (4/7). Other types of ASPs are observed in brachyphalangy type C, spondylo-megepiphyseal-metaphyseal dysplasia, and other conditions. The concept of mild bone abnormalities as specific markers for genetic disease, as with cone-shaped epiphyses and now evident in ASPED, may also be useful for ASPs in general.

  3. 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

  4. Classification of voting patterns to improve the generalized Hough transform for epiphyses localization

    NASA Astrophysics Data System (ADS)

    Hahmann, Ferdinand; Böer, Gordon; Gabriel, Eric; Deserno, Thomas M.; Meyer, Carsten; Schramm, Hauke

    2016-03-01

    This paper presents a general framework for object localization in medical (and non-medical) images. In particular, we focus on objects of well-defined shape, like epiphyseal regions in hand-radiographs, which are localized based on a voting framework using the Generalized Hough Transform (GHT). We suggest to combine the GHT voting with a classifier which rates the voting characteristics of the GHT model at individual Hough cells. Specifically, a Random Forest Classifier rates whether the model points, voting for an object position, constitute a regular shape or not, and this measure is combined with the GHT votes. With this technique, we achieve a success rate of 99.4% for localizing 12 epiphyseal regions of interest in 412 hand- radiographs. The mean error is 6.6 pixels on images with a mean resolution of 1185×2006 pixels. Furthermore, we analyze the influence of the radius of the local neighborhood which is considered in analyzing the voting characteristics of a Hough cell.

  5. 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

  6. 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.

  7. 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.

  8. Radiographic analysis of epiphyseal fusion at knee joint to assess likelihood of having attained 18 years of age.

    PubMed

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

    2012-11-01

    Radiological analysis of the epiphyses of the knee joint provides new valuable information, which may be used in combination with these well-established techniques in order to maximise the accuracy in the assessment of age of 18 years. A total of 215 antero-posterior radiographs of the knee was reviewed retrospectively in patients aged between 14 and 24 years old (99 boys, 116 girls). Fusion was scored as stage 1, epiphysis not fused; stage 2, epiphysis is fully ossified and epiphyseal scar is visible; and stage 3, epiphysis is fully ossified and epiphyseal scar is not visible. Scores of 0, 1 and 2 were assigned to stages 1, 2 and 3, respectively. Lastly, the score related to epiphyseal fusion at the knee joint was obtained by adding the three scores of the distal femur, proximal tibia and proximal fibula. Age distribution gradually increased with each score, for both genders. The mean age (±standard error) in each score category varied between genders, but the differences were not significant (p > 0.11). Five tests were performed to discriminate between individuals who were or were not at age 18 years or more, according to the receiver operating curve. For boys, the highest value of accuracy was obtained with score 3, with high sensitivity (Se = 93.33 %) and specificity (Sp = 89.29 %). For girls, it was obtained with score 4, with high accuracy (Acc = 85.86 %). These results indicate that radiographic analysis of the knee is a valuable alternative as a non-invasive method of estimation of 18 years of age.

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

    PubMed Central

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

    1999-01-01

    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.


Keywords: multiple epiphyseal dysplasia; DTDST; double layered patella PMID:10465113

  10. Study on the effect of T-2 toxin combined with low nutrition diet on rat epiphyseal plate growth and development.

    PubMed

    Yao, Yun-fen; Kang, Peng-de; Li, Xing-bo; Yang, Jing; Shen, Bing; Zhou, Zong-ke; Pei, Fu-xing

    2010-12-01

    The purpose of this study was to observe early lesions of rat epiphyseal plates and metaphysis caused by T-2 toxin and T-2 toxin combined with a low nutrition diet to determine possible pathogenic factors of Kashin-Beck disease (KBD). Ninety Wistar rats were divided into three groups. Group A was fed with a normal diet as control; group B was fed with a normal diet and T-2 toxin; and group C was fed with a low nutrition diet and T-2 toxin. The left knee specimens were collected, fixed in formaldehyde solution, stained by hematoxylin and eosin and Masson. After two weeks, the epiphyseal plate showed necrosis of chondrocytes in groups B and C. After four weeks, more obvious chondrocyte necrosis appeared. The positive rate of Lamellar necrosis in group C was significantly higher than that in groups B and A (P < 0.01). Metaphyseal trabecular bone showed sparse disorder and disruption in group C. T-2 toxin combined with a low nutrition diet could lead to more serious chondrocyte necrosis in the epiphyseal plate and disturb metaphyseal trabecular bone formation.

  11. Ultrastructural studies of the epiphyseal plate of chicks fed a vitamin D-deficient and low-calcium diet.

    PubMed

    Takechi, M; Itakura, C

    1995-08-01

    The epiphyseal plates of rachitic chicks fed a vitamin D-deficient and low-calcium diet were examined ultrastructurally at 4, 7, 14, 18 and 21 days old. On and after 14 days, changes were observed. Chondrocytes in resting, proliferating and maturing zones commonly showed a reduction in cell organelles, suggestive of a decrease in synthetic activity of matrix components. In addition, the resting zone cells had numerous intracytoplasmic microfilaments. Mitotic figures were present but not increased in number in the proliferating zone. Autolysosome-like dense bodies in the chondrocytes and clusters of degenerative and necrotic chondrocytes were observed in the proliferating and maturing zones. In the calcifying zone of the rachitic epiphyseal plate, initial calcification was observed characterized by the deposition of apatite crystals in matrix vesicles and the formation of spherical crystal clusters. The crystal clusters were separated from each other by collagen fibrils on which only small amounts of apatite crystals had been deposited. In this zone, hypertrophic chondrocytes responsible for the initial calcification were seen, but not the stellate chondrocytes responsible for the progression of matrix calcification after its initiation. These findings suggest that accumulation of the proliferating and maturing zone cells as a characteristic lesion of the epiphyseal plate in rachitic chicks is caused by a disturbance of cell maturation. Such disturbance in the calcifying zone may explain the progression of the defect in matrix calcification.

  12. The Effects of Low-Level Laser Therapy, 670 nm, on Epiphyseal Growth in Rats

    PubMed Central

    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/cm2; G8: were submitted to the application of 8 J/cm2; G16: were submitted to the application of 16 J/cm2). 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

  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. Parathyroid receptor gene expression by epiphyseal growth plates in rickets and tibial dyschondroplasia.

    PubMed

    Ben-Bassat, S; Genina, O; Lavelin, I; Leach, R M; Pines, M

    1999-03-25

    PTH/PTHrP receptor gene expression was evaluated in situ in avian epiphyseal growth plates taken from normal, rachitic and tibial dyschondroplasia (TD) afflicted chicks induced by thiram or by genetic selection. In the normal growth plates, PTH/PTHrP receptor gene expression was localized to the maturation zone as demonstrated by the expression of collagen type II (col II), osteopontin (OPN) genes and alkaline phosphatase activity (AP). In TD, either induced by thiram or by genetic selection, normal levels of PTH/PTHrP receptor gene expression were observed up to 21 days post-hatch. In rickets, on the other hand, no PTH/PTHrP receptor gene expression was observed in the growth plate from day 8 of a vitamin D-deficient diet. In cultured chondrocytes, PTH caused time-dependent down-regulation of its own receptor. These results suggest that alterations in the PTH/PTHrP receptor gene expression are associated with rickets but not with TD. The reduction in the PTH/PTHrP receptor gene expression in rickets may be due to the high plasma levels of PTH.

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

    SciTech Connect

    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. 29 refs., 3 figs., 1 tab.

  16. [Multiple epiphyseal separations in a child with cerebral palsy and scurvy].

    PubMed

    Iacono, O; Datola, A; Barbagallo, M L; Greco, F; Sorge, G

    2009-08-01

    Scurvy is a dietary disease due to Vitamin C deficiency. Vitamin C is related to collagen synthesis and metabolism. Malnutrition, problems in bowel absorption, alcoholism and cerebral palsy are clearly often linked with scurvy, even it is no more common in the industrialized countries. Its clinical features are: asthenia, weight loss, appetite decrease, irritability, gingival or mucous lesions, porpora, follicular hyperkeratosis, musculoskeletal pain due to multiple fractures and subperiosteal bleedings, pseudoparalisis (frog-like position of legs) and refuse to walk. Authors report on a nine year-old girl with spastic quadriplegic cerebral palsy, who at the first examination showed deep anemia, fever and multiple epiphyseal separation of the right shoulder and the left knee. Diagnosis of scurvy was been made. The aim of this article was to underline the rarity and gravity of this disease, and its even more frequent appearance in children affected of cerebral palsy. Substitutive therapy consists on ascorbic acid supplementation. Complete restitutio ad integrum of skin-mucous injuries, such as gingival bleedings, was achieved within three months.

  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. 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

  19. 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

  20. A Complex 6p25 Rearrangement in a Child With Multiple Epiphyseal Dysplasia

    PubMed Central

    Bedoyan, Jirair K.; Lesperance, Marci M.; Ackley, Todd; Iyer, Ramaswamy K.; Innis, Jeffrey W.; Misra, Vinod K.

    2015-01-01

    Genomic rearrangements are increasingly recognized as important contributors to human disease. Here we report on an 11½-year-old child with myopia, Duane retraction syndrome, bilateral mixed hearing loss, skeletal anomalies including multiple epiphyseal dysplasia, and global developmental delay, and a complex 6p25 genomic rearrangement. We have employed oligonucleotide-based comparative genomic hybridization arrays (aCGH) of different resolutions (44 and 244K) as well as a 1 M single nucleotide polymorphism (SNP) array to analyze this complex rearrangement. Our analyses reveal a complex rearrangement involving a ~2.21 Mb interstitial deletion, a ~240 kb terminal deletion, and a 70–80 kb region in between these two deletions that shows maintenance of genomic copy number. The interstitial deletion contains eight known genes, including three Forkhead box containing (FOX) transcription factors (FOXQ1, FOXF2, and FOXC1). The region maintaining genomic copy number partly overlaps the dual specificity protein phosphatase 22 (DUSP22) gene. Array analyses suggest a homozygous loss of genomic material at the 5′ end of DUSP22, which was corroborated using TaqMan® copy number analysis. It is possible that this homozygous genomic loss may render both copies of DUSP22 or its products non-functional. Our analysis suggests a rearrangement mechanism distinct from a previously reported replication-based error-prone mechanism without template switching for a specific 6p25 rearrangement with a 1.22 Mb interstitial deletion. Our study demonstrates the utility and limitations of using oligonucleotide-based aCGH and SNP array technologies of increasing resolutions in order to identify complex DNA rearrangements and gene disruptions. PMID:21204225

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

    PubMed

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

    2015-08-01

    individual epiphyseal plates.

  2. Vitamin E stimulates trabecular bone formation and alters epiphyseal cartilage morphometry.

    PubMed

    Xu, H; Watkins, B A; Seifert, M F

    1995-10-01

    The effects of dietary vitamin E (VIT E) and lipids on tissue peroxidation and fatty acid composition, epiphyseal growth plate cartilage development, and trabecular bone formation were evaluated in chicks. A 2 x 2 factorial design was followed using two levels (30 and 90 IU/kg of diet) of dl-alpha-tocopheryl acetate and two different dietary lipids. The basal semipurified diet contained one of the following lipid treatments: anhydrous butter oil (40 g/kg) + soybean oil (60 g/kg), [BSO], or soybean oil (100 g/kg), [SBO]. After 14 days of feeding, the level of alpha tocopheryl in plasma was higher and thiobarbituric acid reactive substances (TBARS) were less in plasma and liver of chicks supplemented with 90 IU of VIT E compared with those given 30 IU of VIT E. Body weights and tibiotarsal bone lengths were not affected by the dietary treatments. Saturated fatty acids (14:0, 15:0, 16:0, 17:0, and 18:0) were increased in the tibiotarsal bone of chicks fed the BSO diet. In contrast, total polyunsaturated fatty acids and the ratio unsaturated fatty acids/saturated fatty acids were higher is plasma of chicks fed SBO compared with the values from chicks fed BSO. The thickness of the entire growth plate cartilage and the lower hypertrophic chondrocyte zone was significantly greater in chicks fed 90 IU/kg of VIT E. Kinetic parameters on bone histomorphometry indicated that mineral apposition rate was higher in chicks fed 90 IU of VIT E. The interaction effect between the VIT E and BSO treatments led to the highest trabecular bone formation rate among the groups. These data suggest that VIT E protects against cellular lipid peroxidation in cartilage to sustain normal bone growth and modeling.

  3. Epiphyseal Chondroprogenitors Provide a Stable Cell Source for Cartilage Cell Therapy

    PubMed Central

    Darwiche, Salim; Scaletta, Corinne; Raffoul, Wassim; Pioletti, Dominique P.; Applegate, Lee Ann

    2012-01-01

    Articular cartilage regeneration poses particularly tough challenges for implementing cell-based therapies. Many cell types have been investigated looking for a balanced combination of responsiveness and stability, yet techniques are still far from defining a gold standard. The work presented focuses on the reliable expansion and characterization of a clinical grade human epiphyseal chondroprogenitor (ECP) cell bank from a single tissue donation. A parental human ECP cell bank was established, which provides the seed material for master and working cell banks. ECPs were investigated at both low and high cumulative population doublings looking at morphology, monolayer expansion kinetics, resistance to cryogenic shock, colony-forming efficiency, and cell surface markers. Three-dimensional micropellet assays were used to determine spontaneous extracellular matrix deposition at varying population doublings and monolayer 2D differentiation studies were undertaken to assess the propensity for commitment into other lineages and their stability. ECPs exhibited remarkable homogeneity in expansion with a steady proliferative potential averaging three population doublings over 8 days. Surface marker analysis revealed no detectable contaminating subpopulations or population enrichment during prolonged culture periods. Despite a slight reduction in Sox9 expression levels at higher population doublings in monolayer, nuclear localization was equivalent both in monolayer and in micropellet format. Equally, ECPs were capable of depositing glycosaminoglycans and producing aggrecan, collagen I, and collagen II in 3D pellets both at low and high population doublings indicating a stable spontaneous chondrogenic potential. Osteogenic induction was differentially restricted in low and high population doublings as observed by Von Kossa staining of calcified matrix, with a notable collagen X, MMP13, and ADAMTS5 downregulation. Rare adipogenic induction was seen as evidenced by cytoplasmic

  4. Epiphyseal Chondroprogenitors Provide a Stable Cell Source for Cartilage Cell Therapy.

    PubMed

    Darwiche, Salim; Scaletta, Corinne; Raffoul, Wassim; Pioletti, Dominique P; Applegate, Lee Ann

    2012-01-01

    Articular cartilage regeneration poses particularly tough challenges for implementing cell-based therapies. Many cell types have been investigated looking for a balanced combination of responsiveness and stability, yet techniques are still far from defining a gold standard. The work presented focuses on the reliable expansion and characterization of a clinical grade human epiphyseal chondroprogenitor (ECP) cell bank from a single tissue donation. A parental human ECP cell bank was established, which provides the seed material for master and working cell banks. ECPs were investigated at both low and high cumulative population doublings looking at morphology, monolayer expansion kinetics, resistance to cryogenic shock, colony-forming efficiency, and cell surface markers. Three-dimensional micropellet assays were used to determine spontaneous extracellular matrix deposition at varying population doublings and monolayer 2D differentiation studies were undertaken to assess the propensity for commitment into other lineages and their stability. ECPs exhibited remarkable homogeneity in expansion with a steady proliferative potential averaging three population doublings over 8 days. Surface marker analysis revealed no detectable contaminating subpopulations or population enrichment during prolonged culture periods. Despite a slight reduction in Sox9 expression levels at higher population doublings in monolayer, nuclear localization was equivalent both in monolayer and in micropellet format. Equally, ECPs were capable of depositing glycosaminoglycans and producing aggrecan, collagen I, and collagen II in 3D pellets both at low and high population doublings indicating a stable spontaneous chondrogenic potential. Osteogenic induction was differentially restricted in low and high population doublings as observed by Von Kossa staining of calcified matrix, with a notable collagen X, MMP13, and ADAMTS5 downregulation. Rare adipogenic induction was seen as evidenced by cytoplasmic

  5. 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

  6. 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

  7. 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.

  8. The classic: Epiphyseal coxa vara or displacement of the capital epiphysis of the femur in adolescence. 1926.

    PubMed

    Key, John Albert

    2013-07-01

    This Classic Article is a redacted reprint of the original work by J.A. Key, "Epiphyseal coxa vara or displacement of the capital epiphysis of the femur in adolescence." (Note the case reports and associated figures were deleted but are available in the supplemental reprint of the original article available online.) An accompanying biographical sketch of J.A. Key is available at DOI 10.1007/s11999-013-2907-9. The classic article is reprinted courtesy of The Journal of Bone and Joint Surgery from Key JA. J Bone Joint Surg. 1926;8:53-117.

  9. Comparative histological study of the effects of high calcium diet and vitamin D supplements on epiphyseal plates of vitamin-D-deficient chicks.

    PubMed

    Jande, S S; Dickson, I R

    1980-01-01

    A comparative histological and microradiographic study of the tibial epiphyseal plates of chickens raised on: (1) a vitamin-D-deficient diet; (2) a vitamin-D-deficient diet supplemented with cholecalciferol, and (3) a vitamin-D-deficient diet to which extra calcium had been added, has revealed that a high-calcium diet did not normalize the epiphyseal plates completely. However, it restored the normal length and chondrocyte arrangement to the proliferative zone. The degenerative zone became elongated and this seems to be related to the hypophosphataemic condition which has developed as a result of the special diet.

  10. Buffalo (Bubalus bubalis) epiphyseal proteins counteract arsenic-induced oxidative stress in brain, heart, and liver of female rats.

    PubMed

    Bharti, Vijay K; Srivastava, R S; Sharma, B; Malik, J K

    2012-05-01

    Arsenic (As) toxicity through induction of oxidative stress is a well-known mechanism of organ toxicity. To address this problem, buffalo epiphyseal proteins (BEP, at 100 μg/kg BW, i.p. for 28 days) were administered intraperitoneally to female Wistar rats exposed to As (100 ppm sodium arsenite via drinking water for 28 days). Arsenic exposure resulted in marked elevation in lipid peroxidation in brain, cardiac, and hepatic tissues, whereas significant (p < 0.05) adverse change in catalase, superoxide dismutase, glutathione reductase, glutathione peroxidase, and reduced glutathione level were observed in cardiac, hepatic, and brain tissues of As-administered animals. BEP significantly (p < 0.05) counteracted all the adverse changes in antioxidant defense system brought about by As administration. Based on these results, we consider BEP as a potent antioxidant to be used for protection from arsenic-induced oxidative stress related damage of vital organs.

  11. 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

  12. 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

  13. Epiphyseal union at the innominate and lower limb in a modern Portuguese skeletal sample, and age estimation in adolescent and young adult male and female skeletons.

    PubMed

    Cardoso, Hugo F V

    2008-02-01

    This study documents the timing of epiphyseal union at the innominate, femur, tibia, and fibula in a sample of modern Portuguese skeletons. The sample was taken from the Lisbon documented skeletal collection and it is comprised of 57 females and 49 males between the ages of 9 and 25. Individuals are mostly representative of the middle-to-low socioeconomic segment of the early 20th century Lisbon population. A total of 18 anatomical locations were examined for epiphyseal union using a three-stage scheme: 1) no union; 2) partial union; and 3) completed union, all traces of fusion having disappeared. Results show that females are ahead of males by 1-2 years and provide similar age ranges for the stages of union than previous studies. Some variations between studies can be explained by methodological differences between dry bone and radiographic observations. However, a review of the literature indicates that socioeconomic status of a given population seems to be of decisive importance to the rate of ossification and most of the differences in skeletal maturation across studies and populations can probably be ascribed to different levels of social and economic development of the societies in which the individuals lived. Although the effects of socioeconomic status in skeletal maturation are greater during childhood than in adolescence, as to make the timing of epiphyseal union a reliable estimate of age at death, they are not negligible and age estimates should take into account the likely socioeconomic status of the individual, whose remains are under examination.

  14. 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.

  15. 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.

  16. Epiphyseal abnormalities, trabecular bone loss and articular chondrocyte hypertrophy develop in the long bones of postnatal Ext1-deficient mice.

    PubMed

    Sgariglia, Federica; Candela, Maria Elena; Huegel, Julianne; Jacenko, Olena; Koyama, Eiki; Yamaguchi, Yu; Pacifici, Maurizio; Enomoto-Iwamoto, Motomi

    2013-11-01

    Long bones are integral components of the limb skeleton. Recent studies have indicated that embryonic long bone development is altered by mutations in Ext genes and consequent heparan sulfate (HS) deficiency, possibly due to changes in activity and distribution of HS-binding/growth plate-associated signaling proteins. Here we asked whether Ext function is continuously required after birth to sustain growth plate function and long bone growth and organization. Compound transgenic Ext1(f/f);Col2CreERT mice were injected with tamoxifen at postnatal day 5 (P5) to ablate Ext1 in cartilage and monitored over time. The Ext1-deficient mice exhibited growth retardation already by 2weeks post-injection, as did their long bones. Mutant growth plates displayed a severe disorganization of chondrocyte columnar organization, a shortened hypertrophic zone with low expression of collagen X and MMP-13, and reduced primary spongiosa accompanied, however, by increased numbers of TRAP-positive osteoclasts at the chondro-osseous border. The mutant epiphyses were abnormal as well. Formation of a secondary ossification center was significantly delayed but interestingly, hypertrophic-like chondrocytes emerged within articular cartilage, similar to those often seen in osteoarthritic joints. Indeed, the cells displayed a large size and round shape, expressed collagen X and MMP-13 and were surrounded by an abundant Perlecan-rich pericellular matrix not seen in control articular chondrocytes. In addition, ectopic cartilaginous outgrowths developed on the lateral side of mutant growth plates over time that resembled exostotic characteristic of children with Hereditary Multiple Exostoses, a syndrome caused by Ext mutations and HS deficiency. In sum, the data do show that Ext1 is continuously required for postnatal growth and organization of long bones as well as their adjacent joints. Ext1 deficiency elicits defects that can occur in human skeletal conditions including trabecular bone loss

  17. Reliability of Schmeling's stages of ossification of medial clavicular epiphyses and its validity to assess 18 years of age in living subjects.

    PubMed

    Cameriere, R; De Luca, S; De Angelis, D; Merelli, V; Giuliodori, A; Cingolani, M; Cattaneo, C; Ferrante, L

    2012-11-01

    Nowadays, due to the global increase in migration movements, forensic age estimation of living young adults has become an important focus of interest. Minors often have no identification documents providing their correct birth dates. Establishing the age of majority is therefore fundamental in order to determine whether juvenile penal systems or penal systems in force for adults are to be applied. Radiological examination of the clavicles is one of the methods recommended by the Study Group on Forensic Age Diagnostics. In this retrospective study, a sample of chest radiographs of 274 subjects, aged between 12 and 25 years, was studied according to Schmeling's method in order to examine the ossification of both medial clavicular epiphyses. All stage classifications were evaluated by five examiners. Intra- and inter-examiner reliability was analysed by Cohen's K statistic. Intra-examiner agreement was insufficient for two of the experts. Inter-examiner agreement, among the other three operators, was moderate (K = 0.509). Study of reliability highlighted difficulties in interpretation, the need to select qualified personnel and choice of the best radiographic image in order to reduce any anatomic overlaps. Although ossification of the medial clavicular epiphyses is recommended to assess whether an individual has already reached the age of majority or not, these results suggested that it is very difficult to clearly identify the five stages of ossification by using conventional chest radiography.

  18. 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

  19. Accuracy of three age estimation methods in children by measurements of developing teeth and carpals and epiphyses of the ulna and radius.

    PubMed

    Cameriere, Roberto; De Luca, Stefano; Biagi, Roberto; Cingolani, Mariano; Farronato, Giampietro; Ferrante, Luigi

    2012-09-01

    The aim of this study was to compare the accuracy of three methods for age estimation in children: the measurements 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 288 Caucasian Italian children (152 boys and 136 girls) aged between 5 and 15 years. Accuracy was determined as the difference between estimated age and chronological age, and accuracy was assessed by analyzing individuals' orthopantomograms and hand-wrist radiographs. Accuracies were 0.41 years for girls and 0.54 years for boys with the THW method; for the HW method, 1.00 years for girls and 0.92 years for boys; and for the T method, 0.62 years for girls and 0.71 years for boys. THW is the most accurate technique for age estimation in these children.

  20. Ultrastructure and X-ray microanalysis of epiphyseal growth cartilage of femoral head processed by rapid-freezing and freeze-substitution.

    PubMed

    Sumii, H; Inoue, H

    1993-04-01

    Epiphyseal growth cartilage of the femoral head obtained from Wistar rats was investigated after fixation by a rapid-freezing and freeze-substitution. Liquid helium was used in order to achieve a fast cooling rate without ice-crystal damage during the rapid freezing. Use of the rapid-freezing and freeze-substitution procedure provided better ultrastructural preservation of the chondrocyte than conventional chemical fixation methods. This procedure allowed a more reliable approach to electron probe analysis. X-ray microanalysis of the specimens confirmed that calcium is not detected in the initial matrix vesicles as a result of the freezing process. The results suggest that calcium release from precipitates occurs in the free state without any detectable formation of hydroxyapatite at the initial stage of calcification and that calcium is not tightly bound to the matrix vesicles.

  1. 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

  2. Effects of melatonin and epiphyseal proteins on fluoride-induced adverse changes in antioxidant status of heart, liver, and kidney of rats.

    PubMed

    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.

  3. High-resolution genetic and physical mapping of multiple epiphyseal dysplasia and pseudoachondroplasia mutations at chromosome 19p13.1-p12

    SciTech Connect

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

    1995-08-10

    Multiple epiphyseal dysplasia (MED) and pseudoachondroplasia (PSACH) are autosomal dominant chondrodysplasias that have similar phenotypes at both clinical and cytological levels. With the recent mapping of PSACH and one form of MED (EDM1) to the pericentromeric region of chromosome 19, it is likely that the disease mutations are allelic. D19S212 and D19S215, genetic markers flanking the EDM1/PSACH locus, have been localized in a chromosome 19 physical map consisting of cosmid contigs ordered by high-resolution FISH. These two markers define an interval of approximately 3.1 Mb at the 19p13.1-p12 boundary. With as many as five informative crossovers within the D19S212-D19S215 interval, four new dinucleotide repeat polymorphisms have been identified. Analysis of recombinant haplotypes in the two families has narrowed the possible location of the EDM1/PSACH gene to an interval of approximately 600 kb. 30 refs., 3 figs., 1 tab.

  4. 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

  5. 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

  6. 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.

  7. 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

  8. 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.

  9. 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.

  10. Growth sensitivity in the epiphyseal growth plate, liver and muscle of SD rats is significantly enhanced by treatment with a fermented soybean product (cheonggukjang) through stimulation of growth hormone secretion.

    PubMed

    Hwang, In Sik; Kim, Ji Eun; Lee, Young Ju; Kwak, Mun Hwa; Lee, Hong Gu; Kim, Hye Sung; Lee, Hee Seob; Hwang, Dae Youn

    2014-01-01

    Cheonggukjang (CKJ), a fermented soybean product, has been reported to have beneficial effects on various chronic diseases, including cardiovascular disease, cancer and immune diseases. To investigate whether CKJ induces growth sensitivity in mammals, alterations of key parameters related to their growth were analyzed. Sprague‑Dawley (SD) rats were treated with a high concentration of CKJ (H‑CKJ) or a low concentration of CKJ (L‑CKJ) for 10 days, and compared with vehicle-treated rats. The CKJ contained a high concentration of total flavonoids, phenolic compounds, daidzein and genistein, compared with the non-fermented soybean product. Body weight was higher in the H‑CKJ‑treated group compared with that in the vehicle‑ and L‑CKJ‑treated groups, whereas the weights of three organs (the brain, liver and kidney) were higher in the L‑CKJ‑treated group compared with the remaining two groups. However, no significant differences in femur length and weight were detected between the CKJ‑ and vehicle‑treated groups. The thickness of the epiphyseal growth plate in proximal femoral epiphysis was broadest in the H‑CKJ‑treated group compared with the vehicle- and L‑CKJ‑treated groups. Furthermore, the level of growth hormone (GH) was highest in the serum of the L‑CKJ‑treated group, although that of the H‑CKJ‑treated group was lower compared with that in the L‑CKJ group. Moreover, the expression levels of the GH receptor increased in the liver tissue, but not in the muscle tissue, of the L‑CKJ‑ and H‑CKJ‑treated groups. In the downstream signaling pathway of the GH receptor, the phosphorylation levels of Akt and Erk were differentially regulated between the liver and muscle. These results suggest that CKJ extract may enhance the sensitivity of the femur, liver and muscle epiphyseal growth plate in SD rats, through the upregulation of GH secretion.

  11. 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

  12. 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

  13. 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 ...

  14. 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.

  15. 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

  16. 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

  17. 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

  18. 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.

  19. Osteochondrosis and epiphyseal bone abnormalities associated with copper deficiency in bison calves.

    PubMed Central

    Woodbury, M R; Feist, M S; Clark, E G; Haigh, J C

    1999-01-01

    Two bison calves were submitted to the Western College of Veterinary Medicine to confirm suspected copper deficiency. In addition to clinical signs, there were pathologic changes in the cartilage and subchondral bone of several joints. Water analysis indicated high levels of sulfate in the drinking water, contributing to a secondary copper deficiency. Images Figure 1. Figure 2. PMID:10646064

  20. The effect of manganese ingestion, phosphate depletion, and starvation on the morphology of the epiphyseal growth plate. A stereologic study.

    PubMed

    Svensson, O; Hjerpe, A; Reinholt, F P; Engfeldt, B

    1985-01-01

    Oral administration of manganese to young rats results in poorly mineralized primary spongiosa and an irregularly thickened growth plate with a histologic resemblance to that in vitamin D-deficiency rickets. In the present study, the rachitic lesions were characterized by stereologic methods at the light microscopic level. With increasing doses of Mn in the diet, the animals developed rachitic lesions of increasing severity, i.e., the total height of the growth plate and the relative volume of the hypertrophic zone increased. The experimental animals developed hypophosphatemia, which was dependent on the Mn dose. The observed serum concentrations of Mn and phosphorus are compatible with the idea that MnHPO4 is precipitated in the gut, leaving only small amounts of Mn and phosphate available for absorption. Furthermore, the severity of the rachitic lesions were inversely correlated to the concentration of phosphate in serum. The most important pathomechanism in Mn rickets is phosphate depletion, which per se causes similar rachitic changes, even though Mn also seems to have other effects. Starvation caused a decrease in the height of the growth plate and in the volume fraction of the hypertrophic zone, thus changes contrary to the rachitic lesions.

  1. A dynamic canine model of experimental hip dysplasia. Gross and histological pathology, and the effect of position of immobilization on capital femoral epiphyseal blood flow.

    PubMed

    Schoenecker, P L; Lesker, P A; Ogata, K

    1984-10-01

    We produced a dynamic model of experimental hip dysplasia in growing puppies by cast immobilization of a single hind leg with the knee in extension. Serial roentgenographic studies demonstrated a progressive acetabular dysplasia with subluxation and eventually dislocation of the femoral head. A consistent finding in the dysplastic hip was significant hypertrophy of the ligamentum capitum femoris, both in length and in cross-sectional area. Quantitative studies of blood flow in the femoral head by the hydrogen-washout technique in normal and dysplastic hips demonstrated a significant decrease in blood flow to the dysplastic femoral heads. The dysplastic hips were then placed in various positions of immobilization and blood-flow determinations were repeated. The position of forced abduction significantly reduced circulation in the femoral head, whereas immobilization in flexion consistently resulted in the highest rate of blood flow in the femoral head. These experimental data indicate the potential ischemic hazards of immobilization in the forced abducted position in the treatment of congenital dislocation of the hip. Progressive degenerative changes developed in the articular cartilage of the dislocated joint, with severe reduction of safranin-O staining, fibrocartilaginous metaplasia, and hypocellularity. The degenerative changes in the acetabular cartilage were more severe than those in the femoral head. These findings further emphasize the importance of reducing the dislocated hip at the earliest opportunity in order to prevent irreversible degenerative changes.

  2. 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.

  3. Distribution of Slow-Cycling Cells in Epiphyseal Cartilage and Requirement of β-Catenin Signaling for Their Maintenance in Growth Plate

    PubMed Central

    Candela, Maria Elena; Cantley, Leslie; Yasuaha, Rika; Iwamoto, Masahiro; Pacifici, Maurizio; Enomoto-Iwamoto, Motomi

    2014-01-01

    Slow proliferation is one of characteristics of stem cells. We examined the presence, distribution and regulation of slow-cycling cells in the developing and growing skeleton using a pulse-chase method with a new nucleoside derivative, 5-ethynyl-2’-deoxyuridine (EdU). C57BL/6 mice received daily intraperitoneal injections of EdU from postnatal day 4 to day 7. One day after the last EdU injection, a large population of cells in articular cartilage and growth plate was labeled. Six weeks after the last injection, the number of EdU-labeled cells dramatically decreased, but a small number of them were dominantly present in the articular surface, and the labeling index was significantly higher in the surface than that in the rest of articular cartilage. In the growth plate, most EdU-positive cells were found in the top layer that lies immediately below the secondary ossification center. Interestingly, postnatal conditional ablation of β-catenin in cartilage caused a complete loss of the EdU-labeled cells in growth plate that displayed disorganization and dysfunction. Together, our data demonstrate that slow-cycling cells do reside in specific locations and numbers in both articular cartilage and growth plate. The β-catenin signaling pathway appears to play a previously unsuspected role in maintenance of the slow-cycling cells. PMID:24415663

  4. Age estimation in children by measurement of carpals and epiphyses of radius and ulna and open apices in teeth: a pilot study.

    PubMed

    Cameriere, Roberto; Ferrante, Luigi

    2008-01-15

    Estimation of skeletal age using radiographic images is widely used in assessing biological growth in clinical and auxological studies. The most frequently used areas for age estimation in children and adolescents are tooth and wrist/hand, both giving good results with only a low level of radiation. This pilot study of a sample of 150 Italian children and adolescents aged between 5 and 15 years focused on analyzing the possible applications of the proportion of carpal area (Ca) and teeth mineralization as a criterion of age estimation. The regression model, describing age as a linear function of gender (g), the ratio between carpal bones area and carpal area (Bo/Ca) and the measurement of open apices, yielded the following equation [Formula in text]. The model explained 93% of the total variance (R(2)=0.93), the median of the absolute values of residuals (observed age minus predicted age) was 0.465 years, with an inter-quartile range (IQR) equalling 0.529 years, and a standard error of estimate of 0.73 years.

  5. Whole-exome sequencing reveals a novel COL2A1 mutation in a patient with spondylo-epiphyseal dysplasia congenita.

    PubMed

    Sangsin, A; Srichomthong, C; Pongpanich, M; Suphapeetiporn, K; Shotelersuk, V

    2016-01-01

    Skeletal dysplasia is a group of disorders with more than 450 entities, many of which cannot be differentiated, especially during infancy, but could lead to different clinical courses and prognoses. In this study, we have described a case of a Thai infant with short stature, flat face, pectus carinatum, indirect inguinal hernia, platyspondyly, and generalized delayed endochondral ossification. Using whole-exome sequencing (WES), we successfully identified a de novo heterozygous mutation, c.2024G>A (p.G675D), in the COL2A1 gene, which, to our knowledge, has not been previously reported. These molecular findings helped provide a definite diagnosis of spondyloepiphyseal dysplasia congenita, aiding in proper management of the disease and improved genetic counseling. We demonstrated that WES is an efficient and cost-effective tool for molecular diagnosis for a type II collagenopathy. PMID:26985960

  6. 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

  7. Kniest dysplasia: MR correlation of histologic and radiographic peculiarities.

    PubMed

    Dwek, Jerry R

    2005-02-01

    Unossified epiphyses of Kniest dysplasia patients histologically reveal a bizarre pattern of chondrocytes lying amid a highly vacuolated matrix giving rise to the name "Swiss cheese" cartilage. The ossified epiphyses also are unusual in showing clouds of dense punctate calcifications randomly distributed throughout. Both unossified and ossified epiphyses reveal on MR imaging a similar pattern of lakes of bright T2 signal against a relatively normal background, which represents an interesting analogue to the histologic and radiographic features.

  8. Metaphyseal chondrodysplasia with ectodermal dysplasia

    SciTech Connect

    Jequier, S.; Bellini, F.; Mackenzie, D.A.

    1981-11-01

    The first case of metaphyseal chondrodysplasia with marked cupping of the metaphyses and cone epiphyses combined with complete alopecia was described in 1966 by Bellini. A second identical case was found in another Italian patient. Both show extremely early epiphyseal fusion. This is probably a new form of metaphyseal chondrodysplasia.

  9. MRI of Little Leaguer's shoulder.

    PubMed

    Hatem, Stephen F; Recht, Michael P; Profitt, Brad

    2006-02-01

    The MRI appearance of 'Little Leaguer's shoulder' has not been previously reported in the radiology literature. Purported etiologies include proximal humeral epiphyseolysis, osteochondrosis of the proximal humeral epiphysis, stress fracture of the proximal humeral epiphyseal plate, and rotational stress fracture of the proximal humeral epiphyseal plate. We describe magnetic resonance imaging findings in four patients and review the literature.

  10. Supraintercondylar fractures of the humerus--treatment by the Vigliani osteosynthesis.

    PubMed

    Fama, G

    1987-03-01

    Nineteen cases of supraintercondylar fractures of the humerus treated by the Vigliani osteosynthesis technique are described. This consists of wide transolecranon exposure of the fracture, stabilisation of the epiphyseal fragments with a transcondylar screw, and of the metaphyseo-epiphyseal junction with two condylo-diaphyseal "Eiffel Tower" Kirschner wires. The ulnar nerve is transposed anteriorly and the operation is carried out early in order to prevent neural disturbances and intra and/or periarticular ossification. The results confirm the validity of this method, which respects the delicate structure of this part of the humerus. Postoperative plaster is necessary as an indispensable complement to "minimum" osteosynthesis but this is quite free from risk. The importance of careful and gradual mobilisation of the elbow is also confirmed. Finally, this method combines the advantages of stable osteosynthesis in compression (screw and nut) at the epiphyseal site, with those of elastic osteosynthesis (Kirschner wires) at the metaphyseo-epiphyseal junction.

  11. Biographical sketch: John Albert Key, 1890-1955.

    PubMed

    Brand, Richard A

    2013-07-01

    This biographical sketch on John Albert Key corresponds to the historic text, The Classic: Epiphyseal coxa vara or displacement of the capital epiphysis of the femur in adolescence, available at DOI 10.1007/s11999-013-2913-y.

  12. 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.

  13. Cartilaginous bone extremities of growing monotremes appear unique.

    PubMed

    Thorp, B H; Dixon, J M

    1991-04-01

    Cartilage canals are present in the epiphyseal cartilage of most mammals and birds. They are considered necessary for the maintenance of chondrocytes and for the formation of epiphyseal ossification centers. The epiphyseal cartilage of marsupials was recently shown not to contain cartilage canals, and placental rats appear not to have cartilage canals, although some confusion exists in the literature. The present study examines the cartilaginous epiphyses and physes from the knee and hip of the rat and the two Australian monotremes (platypus, Ornithorhynchus anatinus and echidna, Tachyglossus aculeatus). In all three species, cartilage canals were absent. Vessels to epiphyseal ossification centers were present, however. In the center of the cartilaginous femoral head of the echidna, but not in the platypus or rat, there was a large cavity, which contained connective tissue and was lined by an endochondrium of chondroproginator cells. These appeared to be contributing to growth of the cartilaginous epiphysis. No similar structure has previously been described in the cartilaginous epiphysis of other species. There was no ligament of the femoral head in the hip joints of the monotremes, and it is suggested the absence of a ligament may be significant in the development of the cavity. It was noted in all specimens that despite being avascular the epiphyseal and physeal cartilage appeared viable and functionally normal. The small size of the cartilaginous epiphyses of the rat may account for their avascularity; but the epiphyses of the monotremes were much larger, especially the echidna, yet still avascular. These features provide strong evidence for fundamental differences between the avascular cartilage of monotremes and the vascular cartilage of most mammals.

  14. A comparative study of trabecular bone mass distribution in cursorial and non-cursorial limb joints.

    PubMed

    Chirchir, Habiba

    2015-05-01

    Skeletal design among cursorial animals is a compromise between a stable body that can withstand locomotor stress and a light design that is energetically inexpensive to grow, maintain, and move. Cursors have been hypothesized to reduce distal musculoskeletal mass to maintain a balance between safety and energetic cost due to an exponential increase in energetic demand observed during the oscillation of the distal limb. Additionally, experimental research shows that the cortical bone in distal limbs experiences higher strains and remodeling rates, apparently maintaining lower mass at the expense of a smaller safety factor. This study tests the hypothesis that the trabecular bone mass in the distal limb epiphyses of cursors is relatively lower than that in the proximal limb epiphyses to minimize the energetic cost of moving the limb. This study utilized peripheral quantitative computed tomography scanning to measure the trabecular mass in the lower and upper limb epiphyses of hominids, cercopithecines, and felids that are considered cursorial and non-cursorial. One-way ANOVA with Tukey post hoc corrections was used to test for significant differences in trabecular mass across limb epiphyses. The results indicate that overall, both cursors and non-cursors exhibit varied trabecular mass in limb epiphyses and, in certain instances, conform to a proximal-distal decrease in mass irrespective of cursoriality. Specifically, hominid and cercopithecine hind limb epiphyses exhibit a proximal-distal decrease in mass irrespective of cursorial adaptations. These results suggest that cursorial mammals employ other energy saving mechanisms to minimize energy costs during running.

  15. 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

  16. Development and growth of long bones in European water frogs (Amphibia: Anura: Ranidae), with remarks on age determination.

    PubMed

    Rozenblut, Beata; Ogielska, Maria

    2005-09-01

    Differentiation and development of long bones were studied in European water frogs: Rana lessonae, R. ridibunda, and R. esculenta. The study included premetamorphic larvae (Gosner Stage 40) to frogs that were 5 years old. Femora, metatarsal bones, and proximal phalanges of the hindlimb exhibit the same pattern of periosteal bone differentiation and the same pattern of growth. Longitudinal and radial growth of these bones was studied by examination of the diaphyses and epiphyses, particularly where the edge of periosteal bone is inserted into the epiphysis. The periosteum seems to be responsible for both longitudinal and radial growth. Investigation of the formation, length, and arrangement of lines of arrested growth reveals that the first line is present only in the middle 25-35% of the length of the diaphysis of an adult bone; therefore, only the central portion of the diaphysis should be used for age estimation in skeletochronological studies. Comparison of the shapes and histological structures of epiphyses in the femur, metatarsal bones, and phalanges revealed that epiphyseal cartilages are composed of an inner and outer part. The inner metaphyseal cartilage has distinct zones and plugs the end of the periosteal bone cylinder; its role in longitudinal growth is questioned. The outer epiphyseal cartilage is composed of articular cartilages proper, in addition to lateral articular cartilages. Differences in the symmetry of the lateral articular cartilages of distal epiphyses of the femur and toes may reflect adaptations to different kinds of movements at the knee and in the foot.

  17. 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.

  18. 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

  19. Secondary avascular necrosis after treatment for congenital dislocation of the hip.

    PubMed

    Burgos, J; Gonzalez-Herranz, P; Ocete, G; Rapariz, J M

    1995-01-01

    We made a radiographic study of 104 unilateral congenital dislocations of the hip (CDH) that had an average age of 12 months (range 4-24), were treated with the same therapeutic protocol, and had an average six years follow-up (range 3-13). Radiographic changes were evident in the proximal femoral epiphysis in 57 hips (55%). In 7 (7%) the changes consisted of central osteoporosis with a cystic aspect, without metaphyseal or physeal changes, and had a normal end result without sequelae. This group was classified as type I. Fifty hips (48%) that were type II showed epiphyseal changes consisting of trabecular rarefaction with osteoporosis and irregular sclerosis, followed by a decrease of epiphyseal height and trabecular recovery. Forty-two hips (40%) were type IIA, with < 75% decrease in epiphyseal height with respect to the healthy side; five of these had a normal evolution, 35 had coxa magna and/or decrease of epiphyseal height, and only two cases had physeal lesion. In type IIB, hips, with > 75% decrease of epiphyseal height, 8 cases (8%) had a final physeal lesion.

  20. [The false equivalent Galeazzi in children].

    PubMed

    Marzouki, A; Elibrahimi, A; Elmrini, A; Boutayeb, F

    2009-02-01

    We report the case of a false Galeazzi equivalent in children. This injury is characterised by an epiphyseal detachment of the distal extremity of the ulna rather than a distal radio-ulnar dislocation. A 16-year-old patient was injured in a fall from a bike. Radiographs showed a fracture of the radial shaft with anterior angulation, together with a type II Salter-Harris epiphyseal injury at the level of the distal ulna. We were unable to perform a closed reduction under general anesthesia due to interposition of periosteum at the fracture site. Thus surgical management was the only option, which consisted of removing the offending periosteum and performing osteosynthesis of the radial shaft fracture with a plate, and the epiphyseal detachment with pins. After 10 months, we noted no bone growth disturbance, or any reduced mobility of the wrist. We will continue the follow-up to monitor bone growth disturbance of the distal extremity of the ulna.

  1. Relationship between intraosseous pressures and intra-articular pressure in arthritis of the knee. An experimental study in immature dogs.

    PubMed

    Bünger, C; Harving, S; Hjermind, J; Bünger, E H

    1983-04-01

    The influence of chronic synovial inflammation and effusion on the juxta-articular bone haemodynamics in the juvenile knee was studied in 12 immature dogs with Carragheenin-induced unilateral arthritis. Using a fluid filled electromanometric pressure recording system simultaneous pressure measurements were taken from the distal femoral metaphysis, juxta-articular epiphyses and knee joint cavity in general anaesthesia followed by intraosseous phlebographies. During resting conditions the intraosseous pressure of the distal femoral epiphysis and the intra-articular pressure was significantly elevated. The phlebographies showed increased accumulation of contrast in arthritic femoral epiphyses with decreased contrast clearance rate. During increasing intra-articular pressure an augmented vulnerability of the blood supply of the arthritic femoral epiphyses was demonstrated. The results suggests that joint effusion may play an important role in the bone changes in juvenile degenerative arthritis of the knee. PMID:6845993

  2. 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

  3. 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

  4. Giant cell tumor of bone in children and adolescents.

    PubMed

    Hoeffel, J C; Galloy, M A; Grignon, Y; Chastagner, P; Floquet, J; Mainard, L; Kadiri, R

    1996-10-01

    Giant cell tumor of bone rarely affects children, in whom it is usually located in a metaphysis in contrast to the predominantly epiphyseal localization in adults. Five cases are reported, two at the femur, two at the fibula and one at the tibia. Plain film radiography and computed tomography are the most informative imaging studies. The differential diagnosis is with aneurysmal bone cyst and, in metaphyseal-epiphyseal forms, with chondroblastoma. Treatment usually consists in curettage of the tumor followed by filling of the cavity; however, more extensive resection is required in some cases. PMID:8938873

  5. 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.

  6. Ewing's sarcoma of proximal humeral epiphysis.

    PubMed

    Esmaili, Heydar Ali; Niknejad, Mohammad Taghi; Mohajeri, Shiva

    2015-02-01

    Ewing's sarcoma is one of the most common primary bone tumors of childhood. The tumor is almost always metaphyseal or diaphyseal, within long bones. In children, lesions of the epiphysis are often benign, with the most common diagnosis being chondroblastoma. Rarely, 1%-2% of Ewing sarcomas may involve epiphysis. We present a case of Ewing's sarcoma of the proximal humeral epiphysis in a 13-year-old boy. This case adds to previously reported cases of epiphyseal Ewing sarcoma and suggests that the diagnosis should be considered for pediatric epiphyseal lesions. PMID:25644805

  7. [Irapa type spondylo-epiphyso-metaphyseal osteochondrodysplasia. New type of dwarfism with short spine and metatarsals].

    PubMed

    Arias, S; Mota, M; Pinto-Cisternas

    1976-02-01

    A new dwarfism of a spondyloepiphysometaphyseal dysplasia is described among Venezuelan Indians of the Yukpa (Irapa) tribe. Brachyrrhahia, brachymetatarsia and brachyrhyzomelia in upper limbs and manifestations in proximal epiphyses of femora and distal epiphyses of humera, with moderate to serious impairment of gait, but no significance deviations of the spine, are the main clinical findings. It is a well individualized type among a very heterogeneous and ill-defined group of chondrodystrophies. The inheritance is through an autosomal recessive or less probably an X-linked gene. PMID:1264699

  8. Growth plate stress distribution implications during bone development: a simple framework computational approach.

    PubMed

    Guevara, J M; Moncayo, M A; Vaca-González, J J; Gutiérrez, M L; Barrera, L A; Garzón-Alvarado, D A

    2015-01-01

    Mechanical stimuli play a significant role in the process of long bone development as evidenced by clinical observations and in vivo studies. Up to now approaches to understand stimuli characteristics have been limited to the first stages of epiphyseal development. Furthermore, growth plate mechanical behavior has not been widely studied. In order to better understand mechanical influences on bone growth, we used Carter and Wong biomechanical approximation to analyze growth plate mechanical behavior, and explore stress patterns for different morphological stages of the growth plate. To the best of our knowledge this work is the first attempt to study stress distribution on growth plate during different possible stages of bone development, from gestation to adolescence. Stress distribution analysis on the epiphysis and growth plate was performed using axisymmetric (3D) finite element analysis in a simplified generic epiphyseal geometry using a linear elastic model as the first approximation. We took into account different growth plate locations, morphologies and widths, as well as different epiphyseal developmental stages. We found stress distribution during bone development established osteogenic index patterns that seem to influence locally epiphyseal structures growth and coincide with growth plate histological arrangement.

  9. Examination of ossification of the distal radial epiphysis using magnetic resonance imaging. New insights for age estimation in young footballers in FIFA tournaments.

    PubMed

    Schmidt, S; Vieth, V; Timme, M; Dvorak, J; Schmeling, A

    2015-03-01

    Alongside a variety of clinical and forensic issues, age determination in living persons also plays a decisive role in the field of professional sport. Only methods of determining skeletal age which do not expose individuals to ionizing radiation are suitable for this purpose. The present study examines whether MRI diagnosis of the distal radial epiphysis can be utilised to monitor internationally relevant age limits in professional football. The wrist area of 152 male footballers aged 18 to 22 years belonging to regional clubs was prospectively examined using MRI. The ossification stage of the distal radial epiphysis was subsequently determined on the basis of established criteria used in determining the maturity of the medial clavicular epiphysis. For the first time, we ascertained evidence of an increase in the prevalence of the phenomenon of threefold linear stratification (hypointense line, hyperintense line, and hypointense line) in the representation of the fused epiphyseal plate of the radius using magnetic resonance imaging with increasing chronological age. Within our study population, test persons with an ossified epiphyseal plate without any verifiable epiphyseal scar were not represented. The presumably high minimum age of entry into this final stage of development (>22 years) must be verified in the course of further studies. According to the results of the present study, the fused epiphyseal plate of the distal radius provides potential maturation criteria which appear suitable for reliable monitoring of all relevant age limits in international football with the aid of magnetic resonance imaging.

  10. Metatarsal-slide lengthening without bone grafting.

    PubMed

    Tabak, B; Lefkowitz, H; Steiner, I

    1986-01-01

    Brachymetatarsia is a condition of premature closure of the epiphyseal plate of a metatarsal. The authors present a case of brachymetatarsia of the second metatarsal. Utilizing a review of the literature, various surgical procedures are discussed. Treatment in this case consisted of a metatarsal-slide lengthening osteotomy, a modification of the Giannestras step-down procedure. PMID:3950333

  11. Prolyl Hydroxylase Domain-Containing Protein 2 (Phd2) Regulates Chondrocyte Differentiation and Secondary Ossification in Mice

    PubMed Central

    Cheng, Shaohong; Aghajanian, Patrick; Pourteymoor, Sheila; Alarcon, Catrina; Mohan, Subburaman

    2016-01-01

    Endochondral ossification plays an important role in the formation of the primary ossification centers (POCs) and secondary ossification centers (SOCs) of mammalian long bones. However, the molecular mechanisms that regulate POC and SOC formation are different. We recently demonstrated that Prolyl Hydroxylase Domain-containing Protein 2 (Phd2) is a key mediator of vitamin C effects on bone. We investigated the role of Phd2 on endochondral ossification of the epiphyses by conditionally deleting the Phd2 gene in osteoblasts and chondrocytes. We found that the deletion of Phd2 in osteoblasts did not cause changes in bone parameters in the proximal tibial epiphyses in 5 week old mice. In contrast, deletion of Phd2 in chondrocytes resulted in increased bone mass and bone formation rate (normalized to tissue volume) in long bone epiphyses, indicating that Phd2 expressed in chondrocytes, but not osteoblasts, negatively regulates secondary ossification of epiphyses. Phd2 deletion in chondrocytes elevated mRNA expression of hypoxia-inducible factor (HIF) signaling molecules including Hif-1α, Hif-2α, Vegfa, Vegfb, and Epo, as well as markers for chondrocyte hypertrophy and mineralization such as Col10, osterix, alkaline phosphatase, and bone sialoprotein. These data suggest that Phd2 expressed in chondrocytes inhibits endochondral ossification at the epiphysis by suppressing HIF signaling pathways. PMID:27775044

  12. 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)…

  13. Shoulder problems of adolescents. How they differ from those of adults.

    PubMed

    Tibone, J E

    1983-07-01

    The adolescent athlete with an open epiphyseal plate presents with different shoulder problems than does the adult. Most shoulder injuries in the adolescent athlete can be treated conservatively with a good prognosis for full return of function. The exception is a glenohumeral dislocation, which will probably recur and need a surgical reconstruction.

  14. Skeletal maturity determination from hand radiograph by model-based analysis

    NASA Astrophysics Data System (ADS)

    Vogelsang, Frank; Kohnen, Michael; Schneider, Hansgerd; Weiler, Frank; Kilbinger, Markus W.; Wein, Berthold B.; Guenther, Rolf W.

    2000-06-01

    Derived from a model based segmentation algorithm for hand radiographs proposed in our former work we now present a method to determine skeletal maturity by an automated analysis of regions of interest (ROI). These ROIs including the epiphyseal and carpal bones, which are most important for skeletal maturity determination, can be extracted out of the radiograph by knowledge based algorithms.

  15. 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.

  16. Flexon-type Salter-Harris I injury of the proximal tibial epiphysis.

    PubMed

    Mudgal, C S; Popovitz, L E; Kasser, J R

    2000-05-01

    The authors report a case of a flexion-type epiphyseal separation of the proximal tibia. The injury described herein is a displaced Salter-Harris type I injury. Literature pertaining to this rare injury is reviewed, and management options are discussed.

  17. 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.

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

    PubMed

    Alibardi, Lorenzo

    2015-09-01

    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.

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

    PubMed

    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

  20. 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

  1. 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

  2. [Chondrodysplasia punctata congenita: a genetic heterogenous disease].

    PubMed

    Hack, W W; Derksen-Samson, J F; Grimberg, R T; van der Harten, J J

    1984-02-01

    Chondrodysplasia punctata congenita is an entity of genetic heterogeneity characterized by the presence of stippled epiphyseal and extra-epiphyseal calcifications in roentgenograms. There are at least three distinct types which differ in their mode of inheritance: the autosomal recessive, the X-linked dominant and the autosomal dominant type. Recently a mesomelic type has been recognized. Its mode of inheritance is not known. A case of chondrodysplasia punctata congenita is presented with its signs and symptoms. The pregnancy was complicated by a sepsis. The mother used several drugs. The classification of the child which died after two days is difficult; she probably belongs to the mesomelic type. The diagnosis chondrodysplasia punctata congenita is mainly based on radiological examinations.

  3. Cartilage ultrastructure after high pressure freezing, freeze substitution, and low temperature embedding. II. Intercellular matrix ultrastructure - preservation of proteoglycans in their native state

    PubMed Central

    1984-01-01

    The extracellular matrix of epiphyseal cartilage tissue was preserved in a state believed to resemble closely that of native tissue following processing by high pressure freezing, freeze substitution, and low temperature embedding (HPF/FS). Proteoglycans (PG) were preserved in an extended state and were apparent as a reticulum of fine filamentous threads throughout the matrix. Within this network, two morphologically discrete components were discernible and identified with the carbohydrate and protein components of PG molecules. Numerous points of contact were clearly visible between components of the PG network and cross-sectioned collagen fibrils and also between PG components and chondrocytic plasmalemmata. These observations provide direct morphological indication that such relationships may exist in native epiphyseal cartilage tissue. PMID:6707091

  4. Cucolepis cincta gen.n. et sp.n. (Cestoda: Cyclophyllidea) from the squirrel cuckoo Piaya cayana lesson (Aves: Cuculiformes) from Paraguay.

    PubMed

    Phillips, Anna J; Mariaux, Jean; Georgiev, Boyko B

    2012-12-01

    Cucolepis gen. n. is erected as monotypic for Cucolepis cincta sp. n., a new species of cyclophyllidean cestode of the family Paruterinidae. The new species is described from the squirrel cuckoo, Piaya cayana Lesson (Aves: Cuculiformes), taken from two localities in Paraguay in 1984 and 1985. This new genus is most similar to the genus Triaenorhina Spasskii et Shumilo, 1965 in terms of the hook morphology and large epiphyseal structures extending from both the handle and guard, but differs in several aspects of the strobilar morphology, such as the shape of the cirrus sac, genital atrium, uterus and paruterine organ. The strobilar morphology of the new genus strongly resembles that of the genus Francobona Georgiev et Kornyushin, 1994, especially the shape of the cirrus sac and genital atrium, yet Francobona spp. lack, the developed epiphyseal structures observed in species of Cucolepis and Triaenorhina. Previous records and the nature of parasite-host associations between cuculiform birds and their cestode parasites are discussed.

  5. 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

  6. [Features of development of fetal bone organ culture in space flight].

    PubMed

    Berezovskaia, O P

    2002-01-01

    Fetal mouse metatarsals cultured for 4 days onboard international space laboratory IML-1 (STS-42) were investigated using light microscopy and electron microscopy combined with X-ray microanalysis. Bones cultured in microgravity were equal in length to both ground and inflight (1 g) controls. Three zones: epiphyseal, proliferative, and hypertrophic chondrocytes were distinguished and measured in metatarsals isolated from 16-day-old fetuses. In bone cultures exposed to microgravity, hypertrophic zone tended to decrease and epiphyseal area was increased compared to controls. Proliferative zone has equal length both in bones cultured under microgravity and in controls. The same tendency was observed in bone cultures from 17-day-old fetuses. Metatarsals cultured in microgravity have less spreading calcification zone of diaphysis in comparison with both controls. The results suggest that maturation of chondrocytes and calcification of cartilage, but not cell proliferation, are microgravity sensitive processes in developing bones isolated from the organism.

  7. [Diagnostic imaging and therapy of chondroblastoma].

    PubMed

    Nickel, Jens; Meyer, Dirk-Roelfs; Geufke, Peter; Andresen, Reimer

    2002-01-01

    The chondroblastoma is a rare lytic osseous lesion, which is typically to be found in the epiphyses of the long tubular bones. We present a case report with the differential diagnostic imaging and the surgical therapy of a chondroblastoma of the proximal tibial epiphysis. A 16-year-old male presented in the traumatological accident and emergency centre with knee pain of unclear origin that had been increasing for several months. He had no memory of any acute trauma. For further clarification, a conventional radiograph in two planes, a thin-layer CT, a multiplanar MRI before and after Gd-DTPA, and a bone scan were performed. The conventional radiological diagnostics show a smoothly circumscribed, osteolytic, eccentric lesion with marginal sclerosis, which not exceeds the epiphyseal seam of the proximal tibia. The thin-layer CT reveals an eccentric osteolysis, with a typical, narrow sclerotic seam and central calcifications. In the high-resolution MRI, the T2-weighted sequences show a locally limited, epiphyseal, lobulated lesion with a heterogeneous, in part raised signal. A further signal increase can be seen in the T1-weighted sequences after administration of Gd-DTPA. Perifocally, there is an epiphyseal edema and discrete (intraarticular fluid collection) fluid in the inner knee. In the skeletal scintigraphy, there is a strong focal and diffuse increased activity from the proximal, lateral tibial epiphysis. After the diagnosis had been rendered, curettage of the defect was performed and then, after histological confirmation of the diagnosis, completing spongiosaplasty was conducted. Taking into account the localisation and the patient's age, a virtually certain diagnosis can already be rendered using conventional imaging. A supplementary MRI or CT can be helpful for final clarification, while 3-phase skeletal scintigraphy is superfluous. The therapy of choice is curettage and subsequent filling of the defect with autologous spongiosa.

  8. 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.

  9. Compartment syndrome with an isolated Salter Harris II fracture of the distal tibia.

    PubMed

    Cox, George; Thambapillay, Siva; Templeton, Peter A

    2008-02-01

    A 14-year-old boy sustained a Salter Harris II fracture to his right distal tibia after a fall from his skateboard. He rapidly went on to develop the signs and symptoms of compartment syndrome, and he underwent emergency fasciotomy. This resulted in relief of his symptoms. After this procedure, his fracture was fixed with a single anteroposterior screw. He made a full and uncomplicated recovery, with no clinical or radiological evidence of epiphyseal growth arrest.

  10. Rheumatologic and neurological events in an elderly patient with tricho-rhino-phalangeal syndrome type I.

    PubMed

    Rué, Marjory; Lüdecke, Hermann-Josef; Sibon, Igor; Richez, Christophe; Taine, Laurence; Foubert-Samier, Alexandra; Arveiler, Benoit; Schaeverbeke, Thierry; Lacombe, Didier; Tison, François; Goizet, Cyril

    2011-01-01

    Sparse scalp hair, a peculiar shape of the nose, and cone-shaped epiphyses of the phalanges are the hallmarks of the tricho-rhino-phalangeal syndromes (TRPS). Short stature, hip dysplasia, and malformations of inner organs including mitral valve prolpase have also often been described for these conditions. Here, we described a 64-year-old woman with molecularly proved TRPS I and several atypical late-onset rheumatologic and neurological symptoms.

  11. 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.

  12. [Slipped capital femoral epiphysis associated with hyperparathyroidism. A case report].

    PubMed

    Khiari, Karima; Cherif, Lotfi; Ben Abdallah, Nejib; Maazoun, Imen; Hadj Ali, Insaf; Bentaarit, Chokri; Turki, Sami; Ben Maïz, Hedi

    2003-12-01

    Slippage of the upper femoral epiphysis can occur in association with multiple endocrine imbalances. A case of slipped femoral epiphysis with primary hyperparathyroidism is reported. The patient was an adolescent, 16 Years of age, who presented bilateral slipped epiphysis. Investigation showed that he had hypercalcemia (3.1 mmol/l) related to primary hyperparathyroidism. A parathyroid adenoma was removed. Outcome was favorable and the slipped femoral epiphyses did not require a specific treatment.

  13. Osseous manifestations of elbow stress associated with sports activities.

    PubMed

    Gore, R M; Rogers, L F; Bowerman, J; Suker, J; Compere, C L

    1980-05-01

    The radiographic manifestations of musculoskeletal stress at the elbow associated with racket and throwing sports are reported in 29 symptomatic amateur, juvenile, and professional athletes. Five major categories of stress are identified: diffuse, humeral shaft, medial tension, lateral compression, and extension stress. The osseous changes produced by these stresses include bony hypertrophy, loose bodies, traction spur formation, osteochondral and humeral shaft fractures in the adult, and epiphyseal and apophyseal hypermaturity or avulsion in the youngster.

  14. Structural scene analysis and content-based image retrieval applied to bone age assessment

    NASA Astrophysics Data System (ADS)

    Fischer, Benedikt; Brosig, André; Deserno, Thomas M.; Ott, Bastian; Günther, Rolf W.

    2009-02-01

    Radiological bone age assessment is based on global or local image regions of interest (ROI), such as epiphyseal regions or the area of carpal bones. Usually, these regions are compared to a standardized reference and a score determining the skeletal maturity is calculated. For computer-assisted diagnosis, automatic ROI extraction is done so far by heuristic approaches. In this work, we apply a high-level approach of scene analysis for knowledge-based ROI segmentation. Based on a set of 100 reference images from the IRMA database, a so called structural prototype (SP) is trained. In this graph-based structure, the 14 phalanges and 5 metacarpal bones are represented by nodes, with associated location, shape, as well as texture parameters modeled by Gaussians. Accordingly, the Gaussians describing the relative positions, relative orientation, and other relative parameters between two nodes are associated to the edges. Thereafter, segmentation of a hand radiograph is done in several steps: (i) a multi-scale region merging scheme is applied to extract visually prominent regions; (ii) a graph/sub-graph matching to the SP robustly identifies a subset of the 19 bones; (iii) the SP is registered to the current image for complete scene-reconstruction (iv) the epiphyseal regions are extracted from the reconstructed scene. The evaluation is based on 137 images of Caucasian males from the USC hand atlas. Overall, an error rate of 32% is achieved, for the 6 middle distal and medial/distal epiphyses, 23% of all extractions need adjustments. On average 9.58 of the 14 epiphyseal regions were extracted successfully per image. This is promising for further use in content-based image retrieval (CBIR) and CBIR-based automatic bone age assessment.

  15. 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

  16. A review of the actual knowledge of the processes governing growth and development of long bones.

    PubMed

    Pazzaglia, Ugo Ernesto; Beluffi, Giampiero; Benetti, Anna; Bondioni, Maria Pia; Zarattini, Guido

    2011-01-01

    Autoptic samples of human bones (from 8 weeks of gestation to 12 years of age) and a second group of serial, skeletal x-rays (required for pathologies not related to bone dysplasia in children from 4 months to 17 years of age) provided the material for the analysis of the physes normal growth mechanism presented in this review. Before the appearance of the ossification centers epiphyseal growth rests exclusively on chondrocytes proliferation (interstitial growth), without any detectable differentiated cellular organization. When endochondral ossification starts a defined spatial disposition of chondrocytes and a corresponding organization of the intercellular matrix is set up, so that it is possible to identify a growth vector corresponding to the columns of piled chondrocytes with direction from hypertrophic toward the proliferative cell layers. The complexity of the tubular bones growth process is well represented by the spatial arrangement of the growth vectors. In the late epiphyseal growth another mechanism is active in addition to endochondral ossification, namely, articular cartilage interstitial growth and subchondral remodelling. The knowledge of the normal mode of organization of the physis and its temporal sequence can help to better understand of the deviaton from the normal development of metaphyseal and epiphyseal dysplasias.

  17. Expression of the Ellis-van Creveld (Evc) gene in the rat tibial growth plate.

    PubMed

    Tsuji, Takehito; Nakamura, Hiroaki; Hirata, Azumi; Yamamoto, Toshio

    2004-08-01

    Ellis-van Creveld (EvC) syndrome is an autosomal recessive chondrodysplasia characterized by short limbs, postaxial polydactyly, natal teeth, and dysplastic nails. The Ellis-van Creveld (EVC) gene, which is mutated in patients with EvC syndrome, has been identified by positional cloning. However, the physiological roles of the EVC gene have not been elucidated. Histopathological analyses of EvC syndrome have shown disturbed chondrocytic phenotypes during cartilage development. We therefore postulated that the EVC gene is a critical factor for chondrocytes during endochondral ossification. The present study focuses on the relationship between the Evc gene and chondrocytes, and examines Evc gene expression in the rat tibial growth plate at the mRNA and protein levels. Evc mRNA in tibial epiphyseal cartilage was expressed at postnatal day (P) 1, P28, and P56 by RT-PCR. Immunohistochemical analyses localized the Evc protein mainly in prehypertrophic and hypertrophic chondrocytes of the epiphyseal growth plate in the tibia during the embryonic and postnatal periods. Evc mRNA was also detected in prehypertrophic and hypertrophic chondrocytes by in situ hybridization. These results indicate that the Evc gene functions mainly in the prehypertrophic and hypertrophic chondrocytes of the epiphyseal growth plate. The data presented here are important for future studies of the underlying mechanism of chondrodysplasia in EvC syndrome.

  18. [Comparative study of the management of congenital brachymetatarsia with elongation with callotaxis].

    PubMed

    Montero-Quijano, M; Mora-Ríos, F G; Mejía-Rohenes, C; López-Marmolejo, A; Tamayo-Pacho, F; Antonio-Romero, C E

    2015-01-01

    Brachymetatarsia is the > 5 mm shortening of the metatarsal parabolic arc of the foot, in one or more metatarsals. It is directly related with the early closure of the epiphyseal cartilage or with early fusion of the epiphyseal line of the distal end of the metatarsal. The fourth metatarsal is usually the most affected one. Females are more commonly affected, with a female to male ratio of 25:1; 72% of cases have bilateral involvement. The causes may be congenital, posttraumatic or result from specific conditions. A prospective, comparative study was conducted of patients with a diagnosis of congenital brachymetatarsia seen in 2007-2008 and 2008-2012. Seven patients were included in the former period: six girls and one boy. Eight patients were included in the latter period: five girls and three boys. The mean shortening achieved in the first group was 21.1 mm; in the second one, 18 mm, without regression. The daily distraction in both groups was 0.5 mm. Metatarsal elongation by means of callotaxis with external fixators is an appropriate procedure for adolescent patients about to achieve epiphyseal closure. The best results are obtained with gradual distraction at a rate of 0.5 mm per day. PMID:27012080

  19. /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.

  20. Impaired growth, delayed ossification, and reduced osteoclastic activity in the growth plate of calcium-supplemented rats with renal failure.

    PubMed

    Sanchez, C P; Kuizon, B D; Abdella, P A; Jüppner, H; Salusky, I B; Goodman, W G

    2000-04-01

    Linear growth is reduced in prepubertal children with adynamic renal osteodystrophy, suggesting that the proliferation and/or differentiation of epiphyseal growth plate chondrocytes is abnormal in this disorder. To examine this issue, in situ hybridization and histochemistry were used to measure selected markers of endochondral bone formation and bone resorption in the proximal tibia of subtotally nephrectomized rats fed a high calcium diet to induce biochemical changes consistent with adynamic osteodystrophy. Blood ionized calcium concentrations were higher and serum PTH levels were lower in nephrectomized, calcium-supplemented rats than in either intact or nephrectomized control animals. Linear growth and tibial length were reduced, but messenger RNA levels for type II collagen, type X collagen, and the PTH/PTHrP receptor did not differ from control values in nephrectomized rats given supplemental calcium. In contrast, both the width of epiphyseal cartilage and the height of the zone of hypertrophic chondrocytes were greater in calcium-supplemented nephrectomized rats. These morphological changes were associated with decreases in histochemical staining for tartrate-resistant acid phosphatase and lower levels of messenger RNA expression for the matrix metalloproteinase MMP-9/gelatinase B immediately adjacent to the epiphyseal growth plate. Diminished chondroclastic/osteoclastic activity alters growth plate morphology and adversely affects linear bone growth in calcium-supplemented, nephrectomized rats.

  1. 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

  2. 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

  3. 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.

  4. 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

  5. Effect of Arterial Deprivation on Growing Femoral Epiphysis: Quantitative Magnetic Resonance Imaging Using a Piglet Model

    PubMed Central

    Cheon, Jung-Eun; Kim, In-One; Kim, Woo Sun; Choi, Young Hun

    2015-01-01

    Objective To investigate the usefulness of dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) and diffusion MRI for the evaluation of femoral head ischemia. Materials and Methods Unilateral femoral head ischemia was induced by selective embolization of the medial circumflex femoral artery in 10 piglets. All MRIs were performed immediately (1 hour) and after embolization (1, 2, and 4 weeks). Apparent diffusion coefficients (ADCs) were calculated for the femoral head. The estimated pharmacokinetic parameters (Kep and Ve from two-compartment model) and semi-quantitative parameters including peak enhancement, time-to-peak (TTP), and contrast washout were evaluated. Results The epiphyseal ADC values of the ischemic hip decreased immediately (1 hour) after embolization. However, they increased rapidly at 1 week after embolization and remained elevated until 4 weeks after embolization. Perfusion MRI of ischemic hips showed decreased epiphyseal perfusion with decreased Kep immediately after embolization. Signal intensity-time curves showed delayed TTP with limited contrast washout immediately post-embolization. At 1-2 weeks after embolization, spontaneous reperfusion was observed in ischemic epiphyses. The change of ADC (p = 0.043) and Kep (p = 0.043) were significantly different between immediate (1 hour) after embolization and 1 week post-embolization. Conclusion Diffusion MRI and pharmacokinetic model obtained from the DCE-MRI are useful in depicting early changes of perfusion and tissue damage using the model of femoral head ischemia in skeletally immature piglets. PMID:25995692

  6. Crocodilian bone-tendon and bone-ligament interfaces.

    PubMed

    Suzuki, Daisuke; Murakami, Gen; Minoura, Nachio

    2003-10-01

    We investigated bone-tendon (27 sites) and bone-ligament (12 sites) interfaces in six pairs of crocodile limbs and girdles under light microscopy. These crocodilian interfaces often included a direct, unmediated insertion in which the tendon or ligament fibers inserted directly into the bone itself without fibrocartilaginous mediation. This was quite different from the usual direct insertion known in mammals and lizards. Fibrocartilaginous tissue at the bone-tendon interface is generally believed to protect tendon fibers against shear stress. Other types of insertions were found in the crocodilian epiphyses, namely, hyaline cartilage and pseudofibrocartilaginous insertions. Notably, a thick periosteum/perichondrium and subchondral layer was involved at both interfaces. The thick periosteum/perichondrium seemed to form along the epiphyseal hyaline cartilage and might function in replacement of fibrocartilaginous tissues. Crocodilian thick periosteum/perichondrium would be expected to reinforce the limb and girdle bones--especially their epiphyses, in which secondary centers of ossification are absent. The subchondral layer--a kind of fibrocartilaginous tissue--seemed to play the role of the growth plate in compensating for the absence of secondary centers of ossification. Therefore, we hypothesized that the crocodile-specific bone-tendon interfaces were the result of these specializations of bone development and growth. In crocodiles, the disadvantages of the single ossification center are effectively compensated for by specialized morphologies, including these interfaces. Specialized bone growth provides the crocodile with the largest body size of the recent reptiles and an extremely fast method of locomotion. PMID:14575269

  7. Skeletal age estimation based on medial clavicle--a test of the method reliability.

    PubMed

    Milenkovic, Petar; Djukic, Ksenija; Djonic, Danijela; Milovanovic, Petar; Djuric, Marija

    2013-05-01

    In order to establish a reliable age indicator in the period when all other epiphyseal age indicators have already been inactivated, medial clavicle as the bone with the longest period of growth became the object of various investigations. However, the lack of population-specific method often made it unreliable in some regions. The current study involved a Balkan population and it was designed in order to examine whether morphological, radiological, and histological analyses of medial clavicles could be applied with success in age assessment of individuals beyond their twenties in anthropological and forensic practice. The medial clavicular specimens were collected from contemporary Serbian population, autopsied in the period from 1998 to 2001, encompassing 67 individuals (42 males and 25 females) with the age range from 20 to 90 years. The conducted analyses of morphological features identified the epiphyseal union timing, signs of lipping in the region of the notch for the first rib as well as exostoses and bone overgrowths of the articular surface margin as age-dependent attributes. Trabecular bone volume fraction and minimum trabecular width were also highlighted as age-distinctive microscopic features. Sex difference was ascertainable in epiphyseal union timing, morphology of the notch for the first rib, margin of the articular surface, and basic morphology of articular surface as well as in two microscopic characteristics: trabecular bone volume fraction and minimum trabecular width. The study managed to identify several age- and sex-related features that could be applied as additional guidance for age estimation in Serbian population. PMID:23329360

  8. Ewing's sarcoma/primitive neuroectodermal tumor of the proximal humeral epiphysis.

    PubMed

    Morris, Parisa; Dickman, Paul S; Seidel, Matthew J

    2013-01-01

    Ewing's sarcoma/primitive neuroectodermal tumor (ES/PNET) of bone is a rare childhood tumor most commonly located in the metadiaphysis. In skeletally immature patients, lesions of the epiphysis are rarely malignant, with the most common diagnosis being chondroblastoma. This article presents a case of ES/PNET of the proximal humeral epiphysis in a 12-year-old boy. To the authors' knowledge, this is the first reported case of epiphyseal ES/PNET confirmed with molecular testing. Radiographs of the patient's painful shoulder showed a well-defined lytic lesion within the humeral epiphysis. Magnetic resonance imaging suggested a chondroid tumor with surrounding edema. Based on the imaging characteristics, the patient's age, and the lesion's location, a preliminary diagnosis of chondroblastoma was made. A trochar biopsy of the lesion demonstrated a small, round, blue cell tumor on frozen section. Subsequently, immunohistochemical staining was uniformly positive in a membrane pattern for CD99, and molecular diagnostic testing demonstrated a EWSR1/FLI1 fusion transcript, confirming the pathologic diagnosis of ES/PNET. Although metadiaphyseal locations for ES/PNET are most common, this case adds to previously reported cases of epiphyseal ES/PNET, suggesting that the diagnosis be considered for pediatric epiphyseal tumors. This case also demonstrates why following rigorous oncologic treatment algorithms by obtaining a limited trochar biopsy, even in the case of a confident radiographic diagnosis, is critically important; the biopsy results can lead to a major change in treatment and avoid contamination of a larger area of soft tissue and bone. PMID:23276342

  9. 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

  10. 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

  11. 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.

  12. Tissue vitality in septic gonitis. 99mTc-DPD scintimetry in puppies.

    PubMed

    Knudsen, V E; Hansen, E S; Holm, I E; Ewald, H; Noer, I; Christensen, S B; Bünger, C

    1987-08-01

    After a single intraarticular injection of 10(9) Staphylococcus aureus in 12 puppies, septic arthritis developed in all the experimental knees after 48 hours. A considerable variability in scintigraphic appearance was observed. The juxtaarticular growth plates showed either unchanged or slightly decreased uptake except in 1 dog exhibiting a definite increase in tracer uptake. The epiphyseal uptake showed no consistent pattern. The intraarticular pressure of the arthritic joints increased significantly, but was not related to the tracer uptake pattern. We conclude that delayed joint scintigraphy as a single investigation in early septic arthritis does not provide diagnostic information and may be misleading. PMID:3673525

  13. A histomorphometric analysis of subchondral bone in juvenile arthropathy of the dog knee.

    PubMed

    Holm, I E; Bünger, C; Melsen, F

    1985-11-01

    Subchondral bone changes in arthropathy were investigated in an animal model using mongrel dog knees. Unilateral arthritis of the knee was induced by repeated intra-articular instillations of Carrageenin solution in 14 mongrel puppies. Histomorphometric analysis of cartilage and bone was performed blindly in both knees of each dog. Arthritis resulted in a significant increase in the joint cartilage thickness and a significant decrease in subchondral epiphyseal trabecular bone volume (VTB%) and trabecular thickness (TRTH), suggesting negative bone balance. No significant changes in osteoid surfaces (OS%) and resorptive surfaces (RS%) were found. The dynamic parameters suggest an increased bone turnover in the arthritic subchondral bone. PMID:4090984

  14. (99m)Tc-methylene diphosphonate bone scintigraphy findings in posttransplant distal limb syndrome.

    PubMed

    Derlin, Thorsten; Busch, Jasmin D; Bannas, Peter

    2014-07-01

    We report a case of posttransplant distal limb syndrome (PTDLS) representing a rare complication in kidney transplant recipients characterized by a pain syndrome of the distal extremities. A 68-year-old man with a history of kidney transplantation presented with symmetrical and incapacitating pain in the feet and knees and underwent whole-body Tc-methylene diphosphonate (MDP) scintigraphy for further evaluation. Planar scintigraphy demonstrated marked tracer uptake in the distal femoral and tibial epiphyses, and magnetic resonance imaging showed corresponding osteoedema. Tc-MDP scintigraphy is a valuable tool for evaluation of the etiology of musculoskeletal pain and may demonstrate typical findings in case of PTDLS.

  15. Temporal bone chondroblastoma with secondary aneurysmal bone cyst presenting as an intracranial mass with clinical seizure activity.

    PubMed

    Stapleton, Christopher J; Walcott, Brian P; Linskey, Katy R; Kahle, Kristopher T; Nahed, Brian V; Asaad, Wael F

    2011-06-01

    Chondroblastomas are rare tumors that characteristically arise from the epiphyseal cartilage of long bones of the immature skeleton. Intracranial involvement is uncommon, though the squamous portion of the temporal bone is preferentially affected due to its cartilaginous origin. Patients with temporal bone chondroblastomas classically present with otologic symptoms, while primary neurological complaints are rare. In this report, we describe a 33 year-old man with a chondroblastoma of the temporal bone and an associated aneurysmal bone cyst constituting a large intracranial mass lesion who presented with new-onset seizure activity. We review issues relevant to the pathology and treatment of these lesions.

  16. Primary aggressive chondroblastoma of the humerus: an unusual imaging presentation.

    PubMed

    Nouh, Mohamed Ragab; Abu Shady, Hamdy Mohamed; Abodief, Wael Tharwat; Al-Kandary, Salwa Ramadan

    2013-01-01

    Chondroblastoma is an uncommon primary benign cartilage-producing neoplasm representing only 1% of all primary bone neoplasia, with male preponderance. It has a predilection to present in any bone ossified in the endochondral pattern. Epiphyseal location, small size, geographic margins, and cartilaginous matrix are virtually pathognomonic radiologic features of this tumor. The tumor rarely transgresses the parent bone to invade adjacent structures. We describe a histologically proven case of chondroblastoma, invading the adjacent glenohumeral joint in a 15-year-old female presented with shoulder pain, in which radiological features belied the nature of the tumor.

  17. Radiology of postnatal skeletal development. Pt. 6

    SciTech Connect

    McCarthy, S.M.; Ogden, J.A.

    1982-11-01

    Thirty-six pairs of proximal radioulnar and elbow units from cadavers and prepared skeletons ranging in age from full-term neonates to fourteen years, were studied morphologically and roentgenographically. Air/cartilage interfacing was used to demonstrate the osseous and cartilaginous portions of the developing epiphyses. These roentgenographic aspects are discussed and illustrated to provide a reference index. The skeletal development is outlined with regard to the diagnosis of several traumatic skeletal diseases as dislocation of elbow or radial head. Moteggia fracture dislocation and Nursemaid's elbow.

  18. Genetics, Genome-Wide Association Studies, and Menarche.

    PubMed

    Witchel, Selma Feldman

    2016-07-01

    Puberty is characterized by maturation of the hypothalamic-pituitary-gonadal axis, development of secondary sexual features, increased linear growth velocity, maturation of the epiphyses limiting additional growth, and achievement of menarche. The age at menarche appears to have a significant genetic component. With the advent of genome-wide association studies (GWASs), the genome has been interrogated to find associations between specific loci and age at menarche. It is apparent that multiple genetic loci, epigenetic mechanisms, and environmental factors modulate this biological event crucial for reproductive competence.

  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. [Skateboard injuries (author's transl)].

    PubMed

    Stürz, H; Rosemeyer, B

    1979-04-01

    Following the introduction of skateboards into Germany in 1976 an increasing number of accidents and injuries have been noted, affecting mainly children 10 to 14 years of age. The causes were lack of experience and the careless use of the boards on public streets. More than 30% of injuries were fractures mainly affecting the upper limb. Because of the frequent involvement of the epiphyseal plates the post-accidental growth may be seriously disturbed. Severe and sometimes fatal head or abdominal injuries have been reported, mainly after collision with cars.

  1. [Osseous bridge after physeal-injury to the distal tibia with spontaneous resolution].

    PubMed

    Trnka, J; Sýkora, L; Bibza, J

    2008-12-01

    The risk of osseous bridge development after certain types of physeal injury is well established. Once formed, the bridge continues to grow and results in a progressive deformity. The authors present an unusual case of a five-year-old girl who had a Salter-Harris Type-IV fracture of the distal tibial epiphyseal plate, with subsequent osseous bridge formation and deformity development. The bridge resolved spontaneously in 16 months, and joint mechanical axis alignment was gradually restored with normal growth of the distal tibia. Key words: physis, paediatric fractures, bony bridge, growth arrest.

  2. 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.

  3. Adolescence: the period of dramatic bone growth.

    PubMed

    Weaver, Connie M

    2002-02-01

    Adolescence is a period of rapid skeletal growth during which nearly half of the adult skeletal mass is accrued. This life stage is a window of opportunity for influencing peak bone mass and reducing the risk of osteoporosis later in life. Endocrine factors that may influence peak bone mass include insulin-like growth factor-1, which regulates skeletal growth, and gonadotropic hormones, which stimulate epiphyseal maturation. Estrogen deficiency and amenorrhea can reduce skeletal mass. Weight-bearing exercise can increase bone mass. Appropriate mineralization of the skeleton requires adequate dietary intakes of minerals involved in the formation of hydroxyapatite; the most likely to be deficient is calcium.

  4. 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

  5. Congenital rickets presenting as refractory respiratory distress at birth.

    PubMed

    Tiwari, Soumya; Kumar, Rajesh; Singla, Shilpy; Dudeja, Ajay; Nangia, Sushma; Saili, Arvind

    2014-08-01

    Congenital rickets is a very rare entity in the spectrum of metabolic bone disease in children. The authors report an as yet unreported case of congenital rickets presenting with respiratory distress at birth. The radiographs of long bones and wrist showed generalized osteopenia with cupping and fraying of epiphyseal ends in the second week of life. The patient was managed with very high doses of vitamin D which led to clinico-radiological and biochemical improvement. More than being interesting for its extreme rarity, this report assumes importance as it brings forth the possibility of congenital rickets being a differential diagnosis for a newborn with respiratory distress.

  6. A Case of Rhizomelic Chondrodysplasia Punctata in Newborn

    PubMed Central

    Karabayır, Nalan; Keskindemirci, Gonca; Adal, Erdal; Korkmaz, Orhan

    2014-01-01

    Rhizomelic chondrodysplasia punctate (RCDP) is a rare autosomal recessive peroxisomal disease. The main features of the disease are shortening of the proximal long bones, punctate calcifications located in the epiphyses of long bones and in soft tissues around joints and vertebral column, vertebral clefting, dysmorphic face, and severe growth retardation, whereas cervical spinal stenosis may also rarely be present. Imaging of the brain and spinal cord in patients with this disorder may aid prognosis and guide management decisions. We report the newborn diagnosed as CDP with cervical stenosis. Our aim is to discuss current knowledge on etiopathogenesis as well as radiological and clinical symptoms of diseases associated with CDP. PMID:24715923

  7. More on the Liang Bua finds and modern human cretins.

    PubMed

    Oxnard, Charles; Obendorf, Peter J; Kefford, Ben J; Dennison, John

    2012-12-01

    Brown (2012: LB1 and LB6 Homo floresiensis are not modern human (Homo sapiens) cretins, Journal of Human Evolution) makes errors of fact, omission and interpretation. Brown's comments refer, among others, to (1) delayed growth and development indicated by unfused epiphyses, (2) postcranial limb proportions: limbs to trunk, between limbs, and within limbs, (3) postcranial bone torsions and angles, (4) postcranial robusticity, real and apparent, (5) skull features, and (6) cretinism on Flores. In each of these areas, much information about cretins is incorrect and much information (Oxnard et al., 2010) comparing the Liang Bua remains with cretins is ignored. PMID:23107933

  8. 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.

  9. 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

  10. 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

  11. 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

  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. Genetics, Genome-Wide Association Studies, and Menarche.

    PubMed

    Witchel, Selma Feldman

    2016-07-01

    Puberty is characterized by maturation of the hypothalamic-pituitary-gonadal axis, development of secondary sexual features, increased linear growth velocity, maturation of the epiphyses limiting additional growth, and achievement of menarche. The age at menarche appears to have a significant genetic component. With the advent of genome-wide association studies (GWASs), the genome has been interrogated to find associations between specific loci and age at menarche. It is apparent that multiple genetic loci, epigenetic mechanisms, and environmental factors modulate this biological event crucial for reproductive competence. PMID:27513021

  14. AIP mutation in pituitary adenomas in the 18th century and today.

    PubMed

    Chahal, Harvinder S; Stals, Karen; Unterländer, Martina; Balding, David J; Thomas, Mark G; Kumar, Ajith V; Besser, G Michael; Atkinson, A Brew; Morrison, Patrick J; Howlett, Trevor A; Levy, Miles J; Orme, Steve M; Akker, Scott A; Abel, Richard L; Grossman, Ashley B; Burger, Joachim; Ellard, Sian; Korbonits, Márta

    2011-01-01

    Gigantism results when a growth hormone-secreting pituitary adenoma is present before epiphyseal fusion. In 1909, when Harvey Cushing examined the skeleton of an Irish patient who lived from 1761 to 1783, he noted an enlarged pituitary fossa. We extracted DNA from the patient's teeth and identified a germline mutation in the aryl hydrocarbon-interacting protein gene (AIP). Four contemporary Northern Irish families who presented with gigantism, acromegaly, or prolactinoma have the same mutation and haplotype associated with the mutated gene. Using coalescent theory, we infer that these persons share a common ancestor who lived about 57 to 66 generations earlier. PMID:21208107

  15. Os odontoideum in wolcott-rallison syndrome: a case series of 4 patients.

    PubMed

    Dias, R P; Buchanan, C R; Thomas, N; Lim, S; Solanki, G; Connor, S E J; Barrett, T G; Kapoor, R R

    2016-01-01

    Wolcott-Rallison Syndrome is the commonest cause of neonatal diabetes in consanguineous families. It is associated with liver dysfunction, epiphyseal dysplasia, and developmental delay. It is caused by mutations in eukaryotic translation initiation factor 2-α kinase 3 (EIF2AK3).We report 4 children with WRS and Os Odontoideum resulting in significant neurological compromise. This cervical spine abnormality has not previously been described in this syndrome. This additional evidence broadens the clinical spectrum of this syndrome and confirms the role of EIF2AK3 in skeletal development. Furthermore, Os Odontoideum needs to be actively screened for in WRS patients to prevent neurological and respiratory compromise. PMID:26860746

  16. A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations.

    PubMed Central

    Hall, C M; Elçioglu, N H; Shaw, D G

    1998-01-01

    Three unrelated patients with identical radiological features are presented. Hypotonia was noted at birth and one patient was diagnosed as having congenital fibre type disproportion in the neonatal period. Later muscle biopsies, however, were entirely normal. All patients, now in their teens and twenties, are of normal intelligence, show striking epiphyseal and metaphyseal changes of the long bones, and have joint laxity and multiple dislocations of large joints, which are particularly incapacitating at the knees. These three cases represent a sporadic, previously unreported skeletal dysplasia with spondyloepimetaphyseal distribution and multiple large joint dislocations. Images PMID:9678701

  17. Proton microprobe analysis of zinc in skeletal tissues. [Proton induced x-ray emission analysis

    SciTech Connect

    Doty, S B; Jones, K W; Kraner, H W; Shroy, R E; Hanson, A L

    1980-06-01

    A proton microprobe with windowless exit port was used to study zinc distributions in various types of skeletal tissues. The use of an external beam facilitated positioning of the targets for examination of particular points of interest. The proton microprobe is uniquely suited to this work since it combines high sensitivity for zinc determinations in thick samples with good spatial resolution. Measurements on rat and rabbit Achilles tendon showed a significant increase in zinc concentrations as the beam moved from the unmineralized collagen into the mineralized attachment site. Cartilage gave a similar result, with calcified cartilage having a greater zinc level than the articular surface on unmineralized epiphyseal cartilage.

  18. Persistence of the olecranon physis: a cause of "little league elbow".

    PubMed

    Lowery, W D; Kurzweil, P R; Forman, S K; Morrison, D S

    1995-01-01

    The elbow is one of the most common sites of overuse injuries in adolescent baseball players. The term "little league elbow" has been used to describe a number of entities. This article reports three cases of painful persistence of the olecranon epiphyseal plate in adolescent pitchers. Symptoms associated with this entity may improve with rest and avoidance of the aggravating activity. However, if symptoms persist and the contralateral growth plate has closed, internal fixation may be necessary and is effective in relieving the symptoms.

  19. The 24-hour growth hormone secretion in a boy with giantism.

    PubMed

    Hindmarsh, P C; Pringle, P J; Brook, C G

    1988-03-01

    The endocrinological and radiological findings in a 7.5-year-old boy with giantism are reported and compared with an age and sex matched normal tall boy. A 24-h GH profile demonstrated a persistently elevated GH concentration (mean GH concentration: giant 19.3 mU/l; tall boy 5.4 mU/l) with loss of the dominant GH periodicity of 3 h seen in the boy with tall stature and substitution with one of 8 h. These data support the view that giantism and acromegaly are similar diseases occurring prior to and following epiphyseal fusion, respectively. PMID:3132796

  20. Maternal vitamin K deficient embryopathy: association with hyperemesis gravidarum and Crohn disease.

    PubMed

    Toriello, Helga V; Erick, Miriam; Alessandri, Jean-Luc; Bailey, Diana; Brunetti-Pierri, Nicola; Cox, Helen; Fryer, Alan; Marty, Denise; McCurdy, Charles; Mulliken, John B; Murphy, Helen; Omlor, Joseph; Pauli, Richard M; Ranells, Judith D; Sanchez-Valle, Amarillis; Tobiasz, Ana; Van Maldergem, Lionel; Lin, Angela E

    2013-03-01

    Chondrodysplasia punctata (CDP) is an etiologically heterogeneous disorder characterized by the radiographic finding of stippled epiphyses (punctate calcifications). It is often accompanied by a characteristic facial appearance, known as the Binder phenotype, which is attributed to hypoplasia of the nasal cartilages; abnormal distal phalanges (brachytelephalangy) are a common component manifestation as well. We report eight patients with a Binder phenotype with or without CDP who all shared a known or suspected maternal deficiency of vitamin K. We suspect that this phenotype is probably under recognized, and we hope to increase awareness about the maternal risk factors, especially hyperemesis gravidarum, which lead to nutritional deficiency.

  1. 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

  2. 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.

  3. VITAMIN A AND ENDOCHONDRAL OSSIFICATION IN THE RAT AS INDICATED BY THE USE OF SULFUR-35 AND PHOSPHORUS-32

    PubMed Central

    Dziewiatkowski, Dominic D.

    1954-01-01

    The administration of vitamin A to vitamin A-deficient rats resulted in a decreased concentration of inorganic sulfate-sulfur in the serum from a value of 2.5 mg. per cent to 1.8 mg. per cent, the latter being close to the value of 2.0 mg. per cent found in normal rats of the same age. The uptake of sulfate and phosphate by femurs and tibiae of vitamin A-deficient rats was less than that in normal rats of the same age. An increased uptake followed the administration of vitamin A: radioautography indicated that in the case of sulfate, its uptake was particularly increased in the epiphyseal cartilage; an increased uptake of phosphate was particularly evident in the diaphysis immediately adjacent to the epiphyseal cartilage plate. The specific activity of the sulfate-sulfur in the chondroitin sulfate samples isolated from the skeletons of vitamin A-deficient rats fell progressively as the deficiency continued. Following administration of vitamin A, the specific activity approached and exceeded the value given by the sample from the skeletons of normal rats of the same age. A substantial increase was found in the value of the specific activity of the sulfate-sulfur of sulfomucopolysaccharides isolated from skins of vitamin A-deficient rats that had been given vitamin A. Following administration of vitamin A to rats deficient in this vitamin, an increased accumulation of some sulfur-containing material was found in regions of active calcification. PMID:13163335

  4. Microvascular hemodynamics in experimental arthritis: disparity between the distribution of microspheres and plasma flow in bone.

    PubMed

    Hansen, E S; Søballe, K; Kjølseth, D; Henriksen, T B; He, S Z

    1990-09-01

    The microcirculation in normal and arthritic juxtaarticular bone was studied in 16 young dogs with carragheenan-induced arthritis of one knee. The regional blood flow was determined by the tissue uptake of intracardially injected 15-microns 141Ce-labeled microspheres, and the microvascular plasma volume was determined by the distribution space of circulating 125I-fibrinogen. Disparities between the distribution of plasma flow and microspheres, introduced by plasma skimming or nonentrapment of spheres in the intraosseous circulation, were estimated by 59Fe-transferrin, a third intravascular tracer, injected as a bolus intracardially and trapped peripherally after 15 sec by prompt circulatory arrest. The tissue uptake of the plasma flow tracer was compared to that of microspheres by the ratio between observed and expected activity of 59Fe-transferrin, the expected activity being calculated from the microsphere distribution. The transferrin and microsphere uptake agreed well in patella, marginal epiphyseal bone, and cortical bone, whereas observed activity of transferrin was twice the expected in central epiphyseal bone, three times higher in marrow, and up to eightfold higher in metaphyses adjacent to growth plates. This discrepancy was significantly greater in arthritic bone when the metaphyses were examined in toto. The microsphere method thus appears to underestimate blood flow to cancellous bone and marrow due to uneven distribution of plasma and formed elements from profound plasma skimming and perhaps also by AV shunting. PMID:2250600

  5. Distribution of blood flow in normal and arthritic joints. Role of arteriovenous shunting studied in growing dogs.

    PubMed

    Stender Hansen, E; He, S Z; Hjortdal, V E; Kjølseth, D; Søballe, K

    1992-01-01

    Juvenile dog knee with chronic carrageenin-induced arthritis was studied under general anesthesia with 15-microns and 50-microns-sized microspheres (MS) to compare the distribution of absolute and weight-standardized blood flow in normal and arthritic limbs and to localize possible sites of arteriovenous (AV) shunting. Arthritic joints had severe synovial and capsular hyperemia. Absolute as well as standardized blood flow was increased in juxta-articular epiphyses and patella. Shafts were atrophic and had decreased absolute flow but normal standardized flow. However, redistribution of blood flow occurred among regions within the shafts, e.g., in metaphyses away from growth plates. The mean nonentrapment of 15-microns MS was 13.8% in arthritic limbs and 4.2% in control limbs. The uptake of 50-microns MS was lower than that of 15-microns MS in all bony flow compartments due to differences in their rheologic behavior in larger arteries. The relative distribution of 50-microns MS and 15-microns MS varied considerably among regions within bone. Arthritis caused a net shift in the uptake of 50-microns MS relative to that of 15-microns MS from central to subchondral epiphyseal bone, evidencing precapillary vasodilation, but the relationship was strictly unchanged when bones were examined in toto. This result militates against the hypothesis of AV shunting in arthritic bone. PMID:1733320

  6. Haemodynamics in acute arthritis of the knee in puppies.

    PubMed

    Bünger, C; Hjermind, J; Bach, P; Bünger, E H; Myhre-Jensen, O

    1984-04-01

    In order to study the haemodynamic changes of the juvenile knee in acute arthritis, an experimental model was developed in puppies by unilateral intra-articular injections of Carragheenin solution into the knee. Tissue blood flow was studied by the tracer microsphere technique in eight dogs and simultaneous intra-articular and intraosseous pressure recordings were performed in seven other dogs. The intra-articular pressure was elevated in all arthritic knees. Hyperaemia was found in the knee-joint capsule and distal femoral metaphysis, whereas juxta-articular epiphyseal blood flow rates were not significantly changed. A decrease of femoral muscle blood flow was encountered. Intraosseous pressure recordings during venous tamponade of the knee-joint capsules suggested a qualitative change of bone vasculature in acute arthritis. The juxta-articular bone blood flow in arthritis appears to be influenced by synovial hyperaemia, synovial effusion pressure, an "inflammatory resistance factor" and the anatomical relationship of the epiphyseal vessels to the knee-joint capsule. PMID:6711289

  7. 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

  8. Sex determination by discriminant function analysis of the right tibia in the prehispanic population of the Canary Islands.

    PubMed

    González-Reimers, E; Velasco-Vázquez, J; Arnay-de-la-Rosa, M; Santolaria-Fernández, F

    2000-02-28

    This study has been performed in order to define standards usable to determine the sex of prehispanic individuals from the Canary Islands from their skeletal remains. Osteometric information at the right tibia was obtained from 59 complete skeletons from Gran Canaria, housed in the Museo Canario (Las Palmas), 45 males and 14 females (this constitutes the totality of complete prehispanic skeletons known from Gran Canaria). The parameters measured were: tibial length, proximal and distal epiphyseal breadth, transverse and anteroposterior diameter, perimeter at the nutrition foramen levels and minimum shaft perimeter. These parameters were subjected to different SPSS discriminant function analysis, combining all of them, or only the proximal or distal ones, without tibial length, etc., in order to obtain functions usable even if only bone fragments are available. Transverse diameter, proximal epiphyseal breadth and minimum shaft perimeter showed the highest discriminant power. The functions obtained showed high average accuracies, ranging from 94.9 to 98.3%, with female accuracies of 100%. The functions obtained were further applied to a test prehispanic population (ten males and ten females) from El Hierro. Overall accuracies of the functions when applied to this population ranged from 65 to 94.7%, with female accuracies ranging 80% to 100%.

  9. Sports-related overuse injuries in children.

    PubMed

    Launay, F

    2015-02-01

    Increased intensity of sports activities combined with a decrease in daily physical activity is making overuse injuries in children more common. These injuries are located mainly in the epiphyseal cartilage. The broad term for these injuries is osteochondrosis, rather than osteochondritis, which more specifically refers to inflammatory conditions of bone and cartilage. The osteochondrosis may be epiphyseal, physeal, or apophyseal, depending on the affected site. The condition can either be in the primary deformans form or the dissecans form. While there is no consensus on the etiology of osteochondrosis, multiple factors seem to be involved: vascular, traumatic, or even microtraumatic factors. Most overuse injuries involve the lower limbs, especially the knees, ankle and feet. The most typical are Osgood-Schlatter disease and Sever's disease; in both conditions, the tendons remain relatively short during the pubescent grown spurt. The main treatment for these injuries is temporary suspension of athletic activities, combined with physical therapy in many cases. Surgery may be performed if conservative treatment fails. It is best, however, to try to prevent these injuries by analyzing and correcting problems with sports equipment, lifestyle habits, training intensity and the child's level of physical activity, and by avoiding premature specialization. Pain in children during sports should not be considered normal. It is a warning sign of overtraining, which may require the activity to be modified, reduced or even discontinued.

  10. 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

  11. Surgical features of Trevor's disease of the patella☆☆☆

    PubMed Central

    de Moraes, Frederico Barra; Filho, Geraldo dos Passos Barcelos; Lobo, Guilherme Felipe Faria; Santos, Cícero Almeida; Reis, Luiz Augusto Alves; dos Santos, Mauro Rodrigues

    2014-01-01

    The aim of this study was to describe surgical features of resection of hemimelic epiphyseal dysplasia of the patella. We already described the clinical and imaging features in another article. The patient was a six-year-old boy with a tumor in his right knee measuring 12 cm longitudinally and 6 cm transversally, which was adhering to the patella and had been slowly growing for two years. Biopsy findings were suggestive of a benign osteochondromatous lesion, without a defined diagnosis. Imaging examinations such as radiography and tomography showed areas of bone formation and radiotransparent areas, while magnetic resonance imaging showed areas of hypo and hypersignal in T1 and T2, of estimated size 8.5 cm longitudinally and 6 cm transversally. The tumor growth was surgically resected and curettage was performed on the epiphyseal nucleus of ossification of the upper and medial centers of the patella, with good patellar remodeling and normal development. The patient did not present any recurrence of the lesion up to the time of reaching skeletal maturity. PMID:26229838

  12. Biochemical and morphological changes associated with long bone abnormalities in silicon deficiency.

    PubMed

    Carlisle, E M

    1980-05-01

    The purpose of this paper was to investigate long bone changes in silicon deficiency more extensively and under a new set of conditions. Long bone abnormalities have been produced in silicon-deficient chicks fed a casein-based rather than amino acid-based diet and under an entirely new set of conditions. As demonstrated previously feeding amino acid diets, the long bones of cockerels fed a silicon-supplemented basal diet and sacrificed at 4 weeks had a significantly greater amount of articular cartilage and water content as compared with the silicon-deficient group. Biochemical analyses of tibia for bone mineral, non-collagenous protein, hexosamine and collagen demonstrated that tibia from supplemented chicks had a significantly greater percentage and total amount of hexosamine and greater percentage of collagen than deficient chicks, the difference being greater for hexosamines than collagen. Tibia from silicon-deficient chicks also showed marked lesions, profound changes being demonstrated in epiphyseal cartilage, especially striking in the proliferative zone. The disturbed epiphyseal cartilage sequences resulted in defective endochondral bone growth indicating that silicon is involved in the metabolic chain of events required for the normal growth of bone.

  13. Bone age at birth; method and effect of hypothyroidism.

    PubMed

    Virtanen, M; Perheentupa, J

    1989-05-01

    Bone maturity at birth (or during the neonatal period) can be estimated from the ossified distal femoral epiphyses (FE). In congenital hypothyroidism (CHT) bone maturation is retarded and neonatal bone age reflects the severity of prenatal thyroid failure. In our reference group of 111 healthy infants, the size of these epiphyses depended not only on the age but also on body size. Thus, if bone age is estimated from the size of an epiphysis, the size of the infant is a potential confounder. This problem was avoided by estimating the maturation lag from the difference between the observed and predicted heights of FE (FEHs). Models for predicting FEH were constructed from data from the reference group by multiple linear regression and confirmed in a separate group of 37 healthy infants. In 52 hypothyroid newborns both FEH and FEH lag correlated with serum thyroxine concentration, indicating that FEH can be used as a measure of bone maturation in a population that is fairly homogeneous for (postmenstrual) age and size. Otherwise FEH lag is a better indicator.

  14. Loss of kinase activity in a patient with Wolcott-Rallison syndrome caused by a novel mutation in the EIF2AK3 gene.

    PubMed

    Biason-Lauber, Anna; Lang-Muritano, Mariarosaria; Vaccaro, Tindara; Schoenle, Eugen J

    2002-07-01

    Wolcott-Rallison syndrome (WRS) is an autosomal recessive disorder characterized by neonatal or early infancy type 1 diabetes, epiphyseal dysplasia, and growth retardation. Mutations in the EIF2AK3 gene, encoding the eukaryotic initiation factor 2alpha-kinase 3 (EIF2AK3), have been found in WRS patients. Here we describe a girl who came to our attention at 2 months of age with severe hypertonic dehydration and diabetic ketoacidosis. A diagnosis of type 1 diabetes was made and insulin treatment initiated. Growth retardation and microcephaly were also present. Anti-islet cell autoantibodies were negative, and mitochondrial diabetes was excluded. Imaging revealed a hypoplastic pancreas and typical signs of spondylo-epiphyseal dysplasia. The diagnosis of WRS was therefore made at age 5 years. Sequencing analysis of her EIF2AK3 gene revealed the presence of a homozygous T to C exchange in exon 13 leading to the missense serine 877 proline mutation. The mutated kinase, although it partly retains the ability of autophosphorylation, is unable to phosphorylate its natural substrate, eukaryotic initiation factor 2alpha (eIF2alpha). This is the first case in which the pathophysiological role of EIF2AK3 deficiency in WRS is confirmed at the molecular level. Our data demonstrate that EIF2AK3 kinase activity is essential for pancreas islet function and bone development in humans, and we suggest EIF2AK3 as a possible target for therapeutic intervention in diabetes. PMID:12086964

  15. 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

  16. [Clinical and radiologic study of hereditary diseases of the femoral epiphysis].

    PubMed

    Mayén, D G; Carnevale, A; Takenaga, R; Lizalde, A; del Castillo, V

    1991-01-01

    The diseases that involve the proximal femoral epiphysis are an heterogeneous group with similar clinical characteristics, so it is important to establish a differential diagnosis to bring suitable management and genetic counseling. The present study includes 33 patients: eleven with multiple epiphyseal dysplasia (MED), five with spondylo-epiphyseal dysplasia (SED), twelve with unilateral Perthes disease (PD uni) and five with bilateral Perthes disease (PD bi). The clinical study showed that affected relatives and associated clinical manifestations were more frequent in the dysplastic patients. The somatometric profile of the 17 PD patients was within two standard deviations of the average, whereas the dysplastic patients showed short stature. In the radiological study all patients had one or both proximal femoral epiphysis affected. All the dysplastic patients had other irregular or flattened epiphysis, but only half of those with PD showed mild flattening or distal femoral epiphysis. Eight of 29 patients had a delay in bone maturity, and all patients had mild flattened vertebras. We think this study shows the importance of having sufficient clinic and radiologic criteria to establish the differential diagnosis in view of the heterogeneity of these entities. PMID:1798872

  17. 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

  18. 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.

  19. Cartilage ultrastructure after high pressure freezing, freeze substitution, and low temperature embedding. I. Chondrocyte ultrastructure--implications for the theories of mineralization and vascular invasion

    PubMed Central

    1984-01-01

    Electron microscopic examination of epiphyseal cartilage tissue processed by high pressure freezing, freeze substitution, and low temperature embedding revealed a substantial improvement in the preservation quality of intracellular organelles by comparison with the results obtained under conventional chemical fixation conditions. Furthermore, all cells throughout the epiphyseal plate, including the terminal chondrocyte adjacent to the region of vascular invasion, were found to be structurally integral. A zone of degenerating cells consistently observed in cartilage tissue processed under conventional chemical fixation conditions was not apparent. Hence, it would appear that cell destruction in this region occurs during chemical processing and is not a feature of cartilage tissue in the native state. Since these cells are situated in a region where tissue calcification is taking place, the implication is that the onset and progression of cartilage calcification are, at least partially, controlled by the chondrocytes themselves. The observation that the terminal cell adjacent to the zone of vascular invasion is viable has important implications in relation to the theory of vascular invasion. This may now require reconceptualization to accommodate the possibility that active cell destruction may be a precondition for vascular invasion. PMID:6707090

  20. 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

  1. Epidemiology of shoulder injuries in young baseball players and grading of radiologic findings of Little Leaguer's shoulder.

    PubMed

    Kanematsu, Yoshiji; Matsuura, Tetsuya; Kashiwaguchi, Shinji; Iwase, Takenobu; Suzue, Naoto; Iwame, Toshiyuki; Fukuta, Shoji; Hamada, Daisuke; Goto, Tomohiro; Sairyo, Koichi

    2015-01-01

    Relatively few epidemiological studies have examined shoulder injuries. This study aimed to investigate the epidemiology of such injuries in young baseball players. A total of 2,055 players aged 9-12 years who participated in a regional championship between 1983 and 1985 were the subjects of this investigation. They were assessed by questionnaire and radiographic examination. Prevalence of shoulder pain was determined according to position, years of baseball playing experience, and training hours per week. Radiographic examination was recommended to all players who complained of shoulder pain. Of the 2,055 subjects, 275 (13.4%) reported episodes of pain in the throwing shoulder. Years of baseball experience, but not player position or training hours per week, was significantly associated with shoulder pain. Forty-one of the 275 subjects reporting shoulder pain agreed to undergo radiography and 15 exhibited findings of Little Leaguer's shoulder. Their lesions could be classified into three distinct grades based on radiographic findings: grade I, widening of the epiphyseal plate in the lateral area (n=9); grade II, widening at all areas of the epiphyseal plate and demineralization of the metaphysis (n=5); and grade III, a slipped epiphysis (n=1). J. Med. Invest. 62: 123-125, August, 2015.

  2. 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.

  3. Estimation of forensic age using substages of ossification of the medial clavicle in living individuals.

    PubMed

    Ekizoglu, Oguzhan; Hocaoglu, Elif; Inci, Ercan; Can, Ismail Ozgur; Aksoy, Sema; Sayin, Ibrahim

    2015-11-01

    Forensic age estimation based on staging of ossification of the medial clavicular bone is one of the methods recommended by the Study Group on Forensic Age Diagnostics of the German Association of Forensic Medicine. In the present study, we analyzed the stages of ossification of the medial clavicular epiphyses on thin-sliced (1 mm) computed tomography (CT) images using the substages defined within stages 2 and 3. The retrospective CT analysis involved 193 subjects (129 males, 64 females) ranging in age from 13 to 28 years. Spearman's correlation analysis revealed a positive correlation between age and ossification stage in both male and female subjects. Stage 3c was first observed at 19 years of age in both sexes and may thus serve as a valuable forensic marker for determining an age of 18 years. Although further research is needed on the ossification stages of the medial clavicular epiphyses, the present findings could contribute to existing reports on observers' experiences using CT analysis of ossification combined with analysis of substages.

  4. Metabolic effects of lathyrogenic agents on cartilage in vivo and in vitro.

    PubMed

    KARNOVSKY, M J; KARNOVSKY, M

    1961-02-01

    The effects of lathyrogenic agents in vivo and in vitro are described, in respect to some biochemical indices of cartilage metabolism. Lathyrogenic agents in vivo inhibited the incorporation of radiosulfate into rat epiphyseal cartilage and the isolated chondroitin sulfate. No significant changes in hydroxyproline or hexosamine content of epiphyseal cartilage were found, but there was a marked increase in water content. The content of chondroitin sulfate, measured as uronic acid, was decreased. The importance of taking growth rate differences between control and experimental rats into account in assessing the effects of lathyrogenic agents in vivo is emphasized. In an in vitro system, utilizing fresh calf costal cartilage slices, the presence of low concentrations of lathyrogenic agents markedly affected various metabolic events. The incorporation into cartilage slices of sulfate-S(35), glucose-U-C(14), and glycine-1-C(14) was significantly depressed, as was the production of organic acids, including lactic acid. In general, these effects were more severe under anaerobic conditions. Glutamine restored the activities of the slices treated with lathyrogenic agents to control values obtained in the absence of either lathyrogen or glutamine.

  5. Recovery of muscle atrophy and bone loss from 90 days bed rest: results from a one-year follow-up.

    PubMed

    Rittweger, J; Felsenberg, D

    2009-02-01

    Earlier studies found the recovery of bone loss after clinical immobilization to be incomplete. It has been argued that this is due to the human skeleton's inability to accrue bone mass once peak bone mass has been attained. However, recent studies suggest that bone losses can fully recover when complete functional rehabilitation is achieved. Accordingly, we hypothesized that bone losses by experimental bed rest would recover within one-year of follow-up. Twenty-five men (mean age 32 years, SD 4.2) were randomly assigned to either bed rest only (Ctrl), resistive flywheel exercise (FW), or to a group receiving 60 mg. i.v pamidronate prior to bed rest (Pam). Calf muscle cross sectional area and bone mineral content of the tibia was measured by peripheral quantitative computed tomography. Calcium, PTH and alkaline phosphatase blood levels were assessed along with urinary desoxypyridinoline excretion. Physical activity was assessed by the Freiburg questionnaire. In Pam and FW, diaphyseal bone losses were completely recovered at a 180-day follow-up, and there was even a small surplus after 1 year (p=0.016). Epiphyseal bone losses were largely, although not completely recovered after 1 year, when they still amounted to -0.6% (SD 1.3%, p=0.034, averaged over all groups). Bone formation and resorption markers had returned to baseline values at this time. However, epiphyseal recovery may still have been on-going, and fitting an exponential model yielded full recovery of the epiphysis within 2 years. Importantly, recovery of calf muscle cross-section and resumption of impact sport activities seemed to precede bone recovery, and bone accrual was closely matching the prior losses on an individual basis. No relationship was found between the epiphyseal BMC deficit at one-year follow-up and the participants' age. Results demonstrate recovery of bed rest induced bone losses in healthy adults. The initial re-accrual rate was remarkably high and is comparable to the accrual of bone

  6. Cartilage Canals in Newborn Dogs: Histochemical and Immunohistochemical Findings

    PubMed Central

    Di Giancamillo, A.; Andreis, M.E.; Taini, P.; Veronesi, M.C.; Di Giancamillo, M.; Modina, S.C.

    2016-01-01

    Cartilage canals (CCs) are microscopic structures involved in secondary ossification centers (SOCs) development. The features of CCs were investigated in the humeral and femoral proximal epiphyses of small-sized newborn dogs (from premature to 28 days after birth) with histochemical and immunohistochemical approaches. Masson’s Trichrome revealed a ring-shaped area around CCs, which changes in colour from green (immature collagen) to red (mature collagen) as ossification progresses; perichondrium staining always matched the ring color. Safranin-O was always negative. Immunohistochemical analysis revealed immunopositivity for both collagen type I and V around the CCs; collagen type II was negative. CCs count showed a tendency to be higher in the humerus than in the femur. This work enlightened for the first time changes in composition of CCs surrounding matrix during SOCs development in dogs, paving the way to further investigations. PMID:27734993

  7. Positive colloidal thorium dioxide as an electron microscopical contrasting agent for glycosaminoglycans, compared with ruthenium red and positive colloidal iron.

    PubMed

    Groot, C G

    1981-01-01

    In electron microscopy Thorotrast has been used as a specific contrasting agent for acid glycosaminoglycans. Because of its high atomic number, thorium (Z=90) gives good contrast in the electron microscope, but at present it is less frequently used for this purpose. We prepared a positive colloidal solution of ThO2 without stabilizers to compare its properties with those of ruthenium red and positive colloidal iron for contrasting fetal mouse epiphyseal cartilage. The results indicate that colloidal ThO2, which is easy to prepare in any laboratory, gives better results than ruthenium red and colloidal iron do in this kind of cartilage. Furthermore, as judged from data in the literature and obtained in our laboratory, it penetrates this tissue better than Thorotrast does, probably because of the absence of stabilizers.

  8. Osteosarcoma arising from osteochondroma of the tibia: case report and cytogenetic findings.

    PubMed

    Engel, E E; Nogueira-Barbosa, M H; Brassesco, M S; Silva, G E B; Valera, E T; Peria, F M; Motta, T C; Tone, L G

    2012-01-01

    Osteochondroma is a cartilage capped benign tumor developing mainly at the juxta-epiphyseal region of long bones. The rate of malignant transformation, mainly into chondrosarcoma, is estimated to be less than 1-3%. Transformation into osteosarcoma is very rare and has been reported only thirteen times. There is little information on treatment and outcome. We report the case of a secondary osteosarcoma arising in the left tibia of a 23-year-old male, 10 years after the initial diagnosis of osteochondroma and after two partial resections. Malignant transformation occurred at the stalk and not at the cartilage cap, as would normally be expected. Chromosome banding analysis revealed the karyotype: 46,XY, t(3;13)(q21;q34) [2]/46,XY [18]. Records from additional cases will help determine the parameters that define these rare secondary bone lesions. PMID:22427037

  9. 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

  10. Bone scanning in assessing viability of vascularized skeletal tissue transplants. [Rats

    SciTech Connect

    Lipson, R.A.; Dief, H.; Greyson, N.D.; Kawano, H.; Gross, A.E.; Langer, F.; Halloran, P.F.

    1981-01-01

    One hundred and eight bone scans using /sup 99m/Technetium methylene diphosphonate (MDP) were performed in rats undergoing vascularized and nonvascularized syngeneic and allogeneic transplants of the hind limb, and in control animals. A six-level system of grading the radionuclide uptake in the graft was used to evaluate healing or complications of the transplantation. Bone scanning was superior to other modalities in assessing viability of the graft. Bone scans were able to: (1) immediately confirm vascular patency, thus obviating angiography; (2) demonstrate differences in the rate of repair in syngeneic and allogeneic nonvascularized grafts; (3) sequentially assess vascularized allograft rejection; and (4) document long-term effects, such as bone atrophy due to disuse and early epiphyseal maturity.

  11. Epiphysiodesis in slipped capital femoral epiphysis: a comparison of various surgical modalities.

    PubMed

    Irani, R N; Rosenzweig, A H; Cotler, H B; Schwentker, E P

    1985-01-01

    This retrospective study surveys patients treated between 1960 and 1978 for slipped capital femoral epiphyses. The parameters reported are fusion time, blood replacement, hospitalization time, aseptic necrosis, cartilage necrosis, and complications. Twenty-eight hips (24 patients) were treated by pinning, and three hips (three patients) were treated by Smith-Petersen nails. The Heyman or Howorth bone pegging procedures were performed in 48 hips in 41 patients. The average fusion time was 9.4 months for hips treated with Knowles pins, 3.7 months for Hagie or Tachdjian pins, and 4.8 months for bone pegging procedures. Blood loss, hospitalization time, surgical scars, and duration of anesthesia were greater for the bone pegging procedures.

  12. 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

  13. [Bone and visceral manifestations of lipoatrophic diabetes. Apropos of a case].

    PubMed

    de Wazieres, B; Wendling, D; Fest, T; Morin, G; Dupond, J L

    1992-11-30

    Lipoatrophic diabetes, known by pediatricians as Lawrence-Seip disease or Berardinelli lipodystrophy syndrome, is an infrequent condition of which approximately one hundred cases have been published to date. A case in a 24-year-old female with a fifteen-year follow-up is reported. Manifestations included acanthosis nigricans, generalized lipoatrophy, hirsutism, muscle hypertrophy, and intellectual impairment. Biologic tests revealed insulin-resistant diabetes mellitus with major diet-dependent type V hypertriglyceridemia. The patient had nephrotic syndrome (focal and segmental endocapillary proliferative glomerulonephritis without dense deposits). Phosphorus and calcium determinations were normal, as were the endocrinologic tests. Roentgenograms of the bones disclosed increased density of axial bones and large epiphyseal defects with increased bone density as determined by osteodensitometric studies. The bone manifestations of this syndrome have been documented but are often overshadowed by the severe metabolic alterations. PMID:1306598

  14. Arthroscopic burring of exposed cement following curettage and cavity filling cementation for chondroblastoma of the proximal tibia.

    PubMed

    Park, Jong-Hoon; Chae, In-Jung; Han, Seung-Beom; Lee, Dae-Hee

    2015-03-01

    Chondroblastoma of the proximal tibia is difficult to treat because of its epiphyseal predilection. This condition can be treated by curettage, which results in immediate restoration of stability and a reduced recurrence rate, followed by cement filling of the bone defect. Nevertheless, contact with cement can damage articular cartilage, potentially leading to severe knee osteoarthritis. Most previous reports regarding this complication described patients with giant cell tumors of the proximal tibia. We present here a patient who underwent arthroscopic treatment for cement exposure caused by articular cartilage loss of the tibial plateau, which occurred after initial curettage and cementation for chondroblastoma of the proximal tibia. To our knowledge, this is the first report on arthroscopic treatment of this condition.

  15. Arthroscopic Burring of Exposed Cement Following Curettage and Cavity Filling Cementation for Chondroblastoma of the Proximal Tibia

    PubMed Central

    Park, Jong-Hoon; Chae, In-Jung; Han, Seung-Beom

    2015-01-01

    Chondroblastoma of the proximal tibia is difficult to treat because of its epiphyseal predilection. This condition can be treated by curettage, which results in immediate restoration of stability and a reduced recurrence rate, followed by cement filling of the bone defect. Nevertheless, contact with cement can damage articular cartilage, potentially leading to severe knee osteoarthritis. Most previous reports regarding this complication described patients with giant cell tumors of the proximal tibia. We present here a patient who underwent arthroscopic treatment for cement exposure caused by articular cartilage loss of the tibial plateau, which occurred after initial curettage and cementation for chondroblastoma of the proximal tibia. To our knowledge, this is the first report on arthroscopic treatment of this condition. PMID:25750896

  16. Chondroblastoma: a rare cause of femoral neck fracture in a teenager.

    PubMed

    Paloski, Michael D; Griesser, Michael J; Jacobson, Mark E; Scharschmidt, Thomas J

    2011-09-01

    Chondroblastomas usually present in the epiphyseal region of bones in skeletally immature patients. These uncommon, benign tumors are usually treated with curettage and use of a bone-void filler. Here we report a case of a hip fracture secondary to an underlying chondroblastoma in a 19-year-old woman. Open biopsy with intraoperative frozen section pointed toward a diagnosis of chondroblastoma. Extended curettage was performed, followed by cryotherapy with a liquid nitrogen gun and filling of the defect with calcium phosphate bone substitute. The femoral neck fracture was stabilized with a sliding hip screw construct. The patient progressed well and continued to regain functional status. A final pathology report confirmed the lesion to be a chondroblastoma. Clinicians should have heightened awareness of a pathologic lesion in a young person presenting with a femoral neck fracture and should consider the uncommon differential diagnosis that the lesion is located in the greater trochanter apophysis.

  17. Cytological diagnosis of chondroblastoma: diagnostic challenge for the cytopathologist.

    PubMed

    Akhtar, Kafil; Qadri, Shagufta; Sen Ray, Prasenjit; Sherwani, Rana K

    2014-05-29

    Chondroblastoma is an uncommon osseous neoplasm that accounts for less than 1% of all bone tumours. It characteristically arises in the epiphysis or epimetaphyseal region of long bones and has been reported to affect people of all ages with slight male predilection. WHO has defined chondroblastoma as 'a benign, cartilage-producing neoplasm usually arising in the epiphyses of skeletally immature patients'. The authors document the cytological features on fine-needle aspiration cytology of a chondroblastoma which appeared as a lytic lesion in the upper end of the right fibula, an uncommon site, in an 18-year-old male patient. X-ray feature combined with fine-needle aspiration cytology favoured the diagnosis of chondroblastoma, which was further confirmed by histopathological examination.

  18. Proximal humeral osteoarticular allografts: technique, pearls and pitfalls, outcomes.

    PubMed

    Farfalli, German L; Ayerza, Miguel A; Muscolo, D Luis; Aponte-Tinao, Luis A

    2015-12-01

    Allograft transplantation is a biologic reconstruction option for massive bone defects after resection of bone sarcomas. This type of reconstruction not only restores bone stock but it also allows us to reconstruct the joint anatomically. These factors are a major concern, especially in a young and active population.We are describing indications, surgical techniques, pearls and pitfalls, and outcomes of proximal humeral osteoarticular allografts, done at present time in our institution.We found that allograft fractures and articular complications, as epiphyseal resorption and subchondral fracture, are the main complications observed in proximal humerus osteoarticular allograft reconstructions. Nevertheless, only fractures need a reconstruction revision. Joint complications may adversely affect the limb function, but for this reason, an allograft revision is rarely performed.

  19. 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.

  20. 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

  1. 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

  2. Cytological diagnosis of chondroblastoma: diagnostic challenge for the cytopathologist.

    PubMed

    Akhtar, Kafil; Qadri, Shagufta; Sen Ray, Prasenjit; Sherwani, Rana K

    2014-01-01

    Chondroblastoma is an uncommon osseous neoplasm that accounts for less than 1% of all bone tumours. It characteristically arises in the epiphysis or epimetaphyseal region of long bones and has been reported to affect people of all ages with slight male predilection. WHO has defined chondroblastoma as 'a benign, cartilage-producing neoplasm usually arising in the epiphyses of skeletally immature patients'. The authors document the cytological features on fine-needle aspiration cytology of a chondroblastoma which appeared as a lytic lesion in the upper end of the right fibula, an uncommon site, in an 18-year-old male patient. X-ray feature combined with fine-needle aspiration cytology favoured the diagnosis of chondroblastoma, which was further confirmed by histopathological examination. PMID:24876212

  3. Short adolescence in early hominids: infantile and adolescent growth of the human femur.

    PubMed

    Tardieu, C

    1998-10-01

    Did the first hominids have a short developmental period similar to that of the great apes or a longer period closer to that of modern humans? Evidence from studies on dental and facial growth favors the first point of view. Additional evidence presented in this report is provided by a morphogenetic analysis of the lower limb. Some morphological modifications undergone by the human femur during infantile and adolescent growth are shown to be excellent markers of different developmental stages. The angular remodelling of the femoral diaphysis, which results in femoral bicondylar angle, is a marker of infancy, while the reshaping of the distal femoral epiphysis is a marker of adolescence. This reshaping of the bony epiphysis consists of the strong projection of the external lip of the femoral trochlea, the increase of the radius of curvature of the external condyle, and the anteroposterior lengthening of the whole epiphysis. The growth spurt in linear dimensions of the femur, characteristic of human adolescence, is shown to be associated with qualitative changes of the distal femoral epiphysis engendered by the late closure of the distal epiphysis. The femur of the first hominids (Australopithecus afarensis) shows only features of infantile growth, whereas characters of both precocious and later growth are typical of later hominids (Homo). The absence of the derived epiphyseal features in Australopithecus would be linked to their early epiphyseal closure and short adolescent growth period; their presence in Homo would have been promoted by their delayed epiphyseal closure and prolonged adolescent growth period. The transition from Australopithecus to Homo appears to have involved a heterochronic process of time hypermorphosis (Gould, [1977], Ontogeny and Phylogeny [Cambridge: Harvard University Press]) in which the size of the femur increases, the epiphysis is modified, and the period of peripubertal growth is prolonged. The shape of the distal epiphyses of KNM

  4. Post-operative imaging of anterior cruciate ligament reconstruction techniques across the spectrum of skeletal maturity.

    PubMed

    Zbojniewicz, Andrew M; Meyers, Arthur B; Wall, Eric J

    2016-04-01

    Due to an increased frequency of anterior cruciate ligament (ACL) injuries in young patients and improved outcomes in athletic performance following ACL reconstruction, surgery is increasingly being performed across the spectrum of skeletal maturity. We present a review of the range of reconstruction techniques performed in skeletally immature patients (physeal sparing techniques, which may involve epiphyseal tunnels or the utilization of an iliotibial band autograft), those performed in patients nearing skeletal maturity (transphyseal techniques), and the more conventional ACL reconstruction techniques performed in skeletally mature adolescents. It is important that radiologists be aware of the range of techniques being performed throughout the spectrum of skeletal maturity in order to accurately characterize the expected post-operative appearance as well as to identify complications, including those unique to this younger population. PMID:26646675

  5. 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

  6. Ultrastructure And Nanomechanics Of Biological Tissues : Cartilage And Bone

    NASA Astrophysics Data System (ADS)

    Ng, Laurel; Tai, Kuangshin; Plaas, Anna; Grodzinsky, Alan; Ortiz, Christine

    2003-03-01

    The techniques of atomic force microscopy (AFM) and high-resolution force spectroscopy are powerful tools for imaging and probing the nanoscale constituents of biological tissues in near physiological environments. These methods have been employed to obtain images of purified bovine epiphyseal and nasal cartilage aggrecan and partially demineralized adult bovine cortical bone taken from the metaphysis and diaphysis regions of the proximal and distal ends of the tibia. The conformational images and results on dimensions of individual aggrecan molecules and their chondroitin sulfate glycosaminoglycan chains were in good agreement with the biochemically determined compositional data of these preparations. At the whole bone tissue level, the detailed morphology of osteons, lacunae, canaliculi, collagen fibrils, and apatite crystals was obtained. Ongoing experiments include high-resolution chemical force microscopy as a function of age and solution environmental conditions (e.g. ionic strength, pH).

  7. Giant intraosseous cyst-like lesions in rheumatoid arthritis report of a case.

    PubMed

    Lohse, Anne; Carbillet, Jean-Pierre; Onimus, Michel; Stevenel, Françoise; Toussirot, Eric; Wendling, Daniel

    2003-02-01

    The term "intraosseous synovial cyst" is used to designate both the epiphyseal cyst-like lesions seen in patients with rheumatoid arthritis (RA) and mucoid cysts, which occur in a different setting. We report the case of a patient in whom a 4-cm cyst-like lesion developed in the left tibia 18 years after onset of RA and 6 years after osmic acid synovectomy of the left knee. Positive contrast arthrography and magnetic resonance imaging visualized a communication between the lesion and the joint space. Preexisting bone and joint lesions and increased intraarticular pressure play a major role in the genesis of cyst-like lesions in RA. In our patient, the osmic acid synovectomy may have contributed to the development of the lesion. "Synovial cyst" is a misnomer for these giant lesions, which are geodes rather than cysts. Despite their low incidence, these lesions deserve attention because they raise diagnostic and therapeutic problems.

  8. 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

  9. Long-term marginal zinc deprivation in rhesus monkeys. IV. Effects on skeletal growth and mineralization.

    PubMed

    Leek, J C; Keen, C L; Vogler, J B; Golub, M S; Hurley, L S; Hendrickx, A G; Gershwin, M E

    1988-05-01

    Skeletal maturation was evaluated from ages 1 to 3 y in rhesus monkeys that had been subjected to a diet marginally deficient in zinc (4 micrograms/g Zn) from conception through age 3 y. Skeletal development was assessed at 18, 24, 30, and 36 mo of age and compared with that of controls fed ad libitum. Skeletal maturation was determined by the presence of epiphyseal ossification centers. To evaluate endochondral bone mineralization the appearance of the zone of provisional calcification on the metaphyseal side of the growth plate and the width of the growth plate were observed. Marginal Zn deprivation was associated with delayed skeletal maturation in monkeys up to age 3 y. Defective mineralization of bone was evident in these monkeys up to age 6 mo. Between ages 6 mo and 3 y bone mineralization increased in some of the marginal-Zn monkeys to values that were only slightly below those for control monkeys.

  10. 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

  11. Aromatase Inhibitors in the Treatment of Short Stature.

    PubMed

    Hero, Matti

    2016-01-01

    Reports published in the 1990s of men with estrogen deficiency caused by defective aromatase or estrogen resistance due to a defective estrogen receptor α confirmed the crucial role of estrogen in bone maturation, closure of the epiphyses and cessation of statural growth. Based on these findings, it became reasonable to postulate that selective inhibition of estrogen synthesis with aromatase inhibitors could increase adult height by delaying bone maturation and prolonging the period of growth in males. To date, aromatase inhibitors have been employed in rare pediatric conditions associated with sex steroid excess, and in randomized controlled trials involving boys with short stature and/or constitutional delay of puberty. Findings from these randomized trials suggest that potent aromatase inhibitors increase predicted height, but final adult height data are scarce. Moreover, several safety issues remain inadequately studied. In this paper, published findings on the use of aromatase inhibitors in growth indications are reviewed with emphasis on treatment efficacy and safety.

  12. 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

  13. 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

  14. Chondroblastoma: a rare cause of femoral neck fracture in a teenager.

    PubMed

    Paloski, Michael D; Griesser, Michael J; Jacobson, Mark E; Scharschmidt, Thomas J

    2011-09-01

    Chondroblastomas usually present in the epiphyseal region of bones in skeletally immature patients. These uncommon, benign tumors are usually treated with curettage and use of a bone-void filler. Here we report a case of a hip fracture secondary to an underlying chondroblastoma in a 19-year-old woman. Open biopsy with intraoperative frozen section pointed toward a diagnosis of chondroblastoma. Extended curettage was performed, followed by cryotherapy with a liquid nitrogen gun and filling of the defect with calcium phosphate bone substitute. The femoral neck fracture was stabilized with a sliding hip screw construct. The patient progressed well and continued to regain functional status. A final pathology report confirmed the lesion to be a chondroblastoma. Clinicians should have heightened awareness of a pathologic lesion in a young person presenting with a femoral neck fracture and should consider the uncommon differential diagnosis that the lesion is located in the greater trochanter apophysis. PMID:22022682

  15. Arthroscopic burring of exposed cement following curettage and cavity filling cementation for chondroblastoma of the proximal tibia.

    PubMed

    Park, Jong-Hoon; Chae, In-Jung; Han, Seung-Beom; Lee, Dae-Hee

    2015-03-01

    Chondroblastoma of the proximal tibia is difficult to treat because of its epiphyseal predilection. This condition can be treated by curettage, which results in immediate restoration of stability and a reduced recurrence rate, followed by cement filling of the bone defect. Nevertheless, contact with cement can damage articular cartilage, potentially leading to severe knee osteoarthritis. Most previous reports regarding this complication described patients with giant cell tumors of the proximal tibia. We present here a patient who underwent arthroscopic treatment for cement exposure caused by articular cartilage loss of the tibial plateau, which occurred after initial curettage and cementation for chondroblastoma of the proximal tibia. To our knowledge, this is the first report on arthroscopic treatment of this condition. PMID:25750896

  16. The enduring mark left by Jean-Martin Charcot on rheumatology.

    PubMed

    Lagier, R

    1997-12-01

    Although Charcot is remembered above all as an outstanding neurologist, he also left a lasting imprint on the study of rheumatic diseases, primarily in two fields. a) He performed a pathologic-nosographic confrontation based on principles that remain relevant in today's era of imaging techniques. His vision as a pathologist allowed him to establish links between nonspecific lesions, which led him to develop a unified concept of chronic rheumatism. At the same time however, his experience as a clinician gave him a sense of the nosologic distinctions that are widely accepted today. b) He analyzed osteoarticular dystrophies associated with neurologic disorders, most notably tabetic arthropathies with epiphyseal fragmentation and in some instances spontaneous fractures. In addition, a constellation of alterations of the synovial membrane, ligaments, and muscles identified in those analyses foreshadowed today's concept of reflex sympathetic dystrophy syndrome.

  17. "Primary" aggressive chondroblastoma of the humerus: a case report

    PubMed Central

    Harish, K; Janaki, MG; Alva, N Kishore

    2004-01-01

    Background Chondroblastomas are rare epiphyseal bone tumors. Very few cases with extra-cortical aggressive soft tissue invasion or metastasis are reported. Case presentation We report a 28 year-old adult male who presented with a large swelling over the left shoulder region. Pre-operative imaging revealed a large tumor arising from upper end of humerus with extensive soft tissue involvement necessitating a fore-quarter amputation. Patient received adjuvant radiation. Conclusions This patient is one of the largest chondroblastomas to be reported. Although chondroblastomas are typically benign, rarely they can be locally aggressive or metastatic. Early diagnosis and institution of proper primary therapy would prevent mutilating surgeries and recurrences. PMID:15113430

  18. Speedy skeletal prototype production to help diagnosis in orthopaedic and trauma surgery. Methodology and examples of clinical applications.

    PubMed

    Debarre, E; Hivart, P; Baranski, D; Déprez, P

    2012-09-01

    As a medical imaging complement, a real 3D replica of the anatomical area of interest can be of substantial advantage in orthopaedic and trauma surgery. Unlike the 3D virtual, it makes palpable the notion of scale and volume, and apparent hidden or ambiguous details and thus enhance or facilitate the diagnosis and eventual surgical solutions. CT data of patients, in DICOM3 standard, were used for digital 3D reconstruction followed by rapid prototyping (fused deposition modelling) of acrylonitrile-butadiene-styrene (ABS) replicas of the areas of interest. Three applications were realized: osteotomy for epiphyseal malunion, shoulder arthroplasty and femoral trochleoplasty. The actual size replicas (obtained in less than thirty hours) provided excellent spatial representation with estimation of available bone stock and materialization of relief. The process has proven to be appropriate (and economically reasonable), including for common cases, when it comes to complex spatial geometry and objective representation of the scale of volumes.

  19. Traumatic pseudodislocation of the acromioclavicular joint in children. A fifteen year review.

    PubMed

    Black, G B; McPherson, J A; Reed, M H

    1991-01-01

    Traumatic acromioclavicular separation in the skeletally immature patient is frequently overdiagnosed and overtreated. Fifty-eight children, aged 5 to 16 years, who presented over a 15 year period with injuries to the distal clavicle, were reviewed retrospectively. The majority showed coracoclavicular widening radiographically, suggesting acromioclavicular separation. In 45 cases, a distal clavicular fracture was identified, while an acromioclavicular separation without fracture was initially diagnosed in 13. Long-term followups of these patients demonstrate excellent results with conservative management. "Pseudodislocation" involves a clavicular fracture of the lateral metaphysis or metaphyseal epiphyseal separation and not an acromioclavicular disruption. This pseudodislocation of the acromioclavicular joint in the skeletally immature patient must be differentiated from the adult counterpart to avoid unnecessary operative intervention.

  20. Hinged distraction of the hip joint in the treatment of Perthes disease: evaluation at skeletal maturity.

    PubMed

    Laklouk, Mohamed Abdel-Rehim; Hosny, Gamal Ahmed

    2012-09-01

    The aim of this work is to determine the effect of this type of treatment on the shape of the femoral head, the range of motion (ROM), radiological changes in the femoral head, and the prognosis of Perthes disease at skeletal maturity. From 1998 to 2007, 53 patients with Perthes disease were treated with a combination of soft tissue release and joint distraction with a hinged monolateral external fixator in 32 patients and by Ilizarov external fixator in 21 patients. Nineteen of our 53 patients attained skeletal maturity and were evaluated in our study. This study included 15 boys and four girls, mean age at surgery 9.3 years (range 7.2-13.1), and mean age at the last follow-up 17.4 years (range 14.9-21.3). The duration of symptoms varied from a period of 6 to 60 months before the operation. Radiographs taken during the fragmentation stage of the disease were classified by the lateral pillar classification of Herring; 19 of our patients attained skeletal maturity and were evaluated. Clinical assessment included the Harris hip score, hip ROM, and limb length discrepancy. Radiographic assessment included sharp transverse acetabular inclination, the uncoverage percentage, the epiphyseal index before surgery (modified Eyre-Brook), at frame removal, and at the last follow-up, the epiphyseal quotient (of Sjovall), and the Stulberg classification. The mean follow-up was 7.2 years (range 4.1-11.3). The mean Harris hip score was 87.1/100 (range 49.2-94.8). An improvement in hip (ROM) of 83.3% of the normal range was restored. There was a marked improvement in the degree of pain and limp postoperatively. The hip ROM was slightly limited in most patients, and seven patients had limb shortening of between 1 and 3 cm. The mean sharp transverse acetabular inclination of the affected side was 44° (range 35-51) compared with 37° for the unaffected side (P=0.042). The mean uncoverage percentage was 36% (range 24-45) compared with 21% for the unaffected side (P=0.027). The mean

  1. A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia

    SciTech Connect

    Zabel, B.; Hilbert, K.; Spranger, J.; Winterpacht, A.; Stoeb, H.; Superti-Furga, A.

    1996-05-03

    We report on a patient with a skeletal dysplasia characterized by short stature, spondylo-epiphyseal involvement, and brachydactyly E-like changes. This condition has been described as spondyloperipheral dysplasia and the few published cases suggest autosomal dominant inheritance with considerable clinical variability. We found our sporadic case to be due to a collagen type II defect resulting from a specific COL2A1 mutation. This mutation is the first to be located at the C-terminal outside the helical domain of COL2A1. A frameshift as consequence of a 5 bp duplication in exon 51 leads to a stop codon. The resulting truncated C-propeptide region seems to affect helix formation and produces changes of chondrocyte morphology, collagen type II fibril structure and cartilage matrix composition. Our case with its distinct phenotype adds another chondrodysplasia to the clinical spectrum of type II collagenopathies. 16 refs., 4 figs.

  2. 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.

  3. 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.

  4. 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

  5. Spondylometepiphyseal dysplasia, Strudwick type.

    PubMed

    Anderson, C E; Sillence, D O; Lachman, R S; Toomey, K; Bull, M; Dorst, J; Rimoin, D L

    1982-11-01

    The clinical and radiographic observations in eight patients, radiographs on an additional six patients, and morphologic observations on chondro-osseous tissue from two of these 14 patients form the basis for delineating an entity distinct from the heterogeneous group of skeletal dysplasia involving spine and tubular bones, the spondyloepiphyseal, and spondylometaphyseal dysplasias. Disproportionately short limbs and delayed epiphyseal maturation are present at birth, and the entity is radiographically indistinguishable from spondyloepiphyseal dysplasia (SED) congenita during infancy. The metaphyseal change that allows identification of the entity described here develops during early childhood, and radiographically is seen as "dappling," ie, the mottled appearance of alternating zones of osteosclerosis and osteopenia. Severe scoliosis and cord compression may be important clinical problems related to the spine changes in adulthood. We have identified one family with two affected sibs and normal parents, suggesting autosomal recessive inheritance and distinguishing the entity from SED congenita that has autosomal dominant inheritance.

  6. Caffey disease in neonatal period: the importance of the family!

    PubMed Central

    Prior, Ana Rita; Moldovan, Oana; Azevedo, António; Moniz, Carlos

    2012-01-01

    A male newborn was apparently well until his second day of life, when increased irritability and a swelling in his right leg were noted. He was rooming-in with his mother since birth. On examination, a mass on the anterior surface of the right leg was noticed. The mass was firm, elongated, ill-defined, unmovable and painful at palpation. No overlying skin changes were seen. The newborn had a family history of neonatal bone swelling with resolution before the age of 2. Subsequent images showed hyperostosis in the diaphysis of the right tibia. After exclusion of other conditions such as trauma, osteomyelitis and congenital syphilis, the involvement of the tibial diaphysis, sparing the epiphyses and the benign course of the disease in family history, were indicative of Caffey disease. The genetic study confirmed this diagnosis. Caffey disease, although rare, should not be overlooked in the diagnostic approach to childhood bone swelling. PMID:23047998

  7. [Effect of lumbar (perirenal) procaine blockade on microcirculation and exchange proteoglycans with experimental gonarthrosis].

    PubMed

    Tarasko, A D; Ibatullin, I A; Aref'eva, A K

    2015-01-01

    Experimental studies on guinea pigs of both sexes (n = 30). Experimental animals are awicea into equal groups oJ 10 animals: 1--the control group (intact animals), 2--the comparison group (modelling of gonarthrosis by crossing his own patellar ligament has been made, exposure 6 months), 3--the main group (animals with gonarthrosis treatment was carried out by performing lumbar procaine blockade (LPB) with an interval of 3-5 days three times). We establish that after a course of LPB in gonarthrosis marked increase in the density of the injected channel in the articular and periarticular structures, which reflects a growth in the microcirculation, and more intense accumulation in the basic substance of epiphyseal cartilage PAS (+) indicates the material to increase the level of proteoglycan in articular cartilage. PMID:26259255

  8. Screening of Different Organs of Rats for HCA2 Receptor mRNA

    PubMed Central

    Shomali, Tahoora; Mosleh, Najmeh; Kamalpour, Mohammad

    2014-01-01

    Interest in hydroxy - carboxylic acid 2 (HCA2) receptor has been raised since it is the target of antidyslipidemic drug nicotinic acid. The present study aimed to evaluate the presence of mRNA of this receptor in different organs of laboratory rat. Twenty two different organs of rats including mesenteric fat, epididymis (head, body and tail), testis, ovary, xiphoid process, liver, adrenal gland, femoral head, proximal epiphyseal and metaphyseal bone marrow of femur, esophagus, glandular stomach, forestomach, intestines, colons, heart, spleen, kidney, trachea, lung, skeletal muscle (quadriceps), cerebrum and cerebellum were removed and examined for HCA2 mRNA by RT- PCR method. The mRNA for HCA2 receptor was detected in all analyzed tissues. In conclusion, the different organs of rat express HCA2 receptor mRNA which makes a proper animal model for future studies on the physiological and pharmacological roles of this receptor in vivo. PMID:25035863

  9. Familial vitamin D resistant rickets: End-organ resistance to 1,25-dihydroxyvitamin D.

    PubMed

    Choudhury, Sangita; Jebasingh, K Felix; Ranabir, Salam; Singh, Th Premchand

    2013-10-01

    Rickets is softening of bones due to defective mineralization of cartilage in the epiphyseal growth plate, leading to widening of ends of long bones, growth retardation, and skeletal deformities in children. The predominant cause is deficiency or impaired metabolism of vitamin D. The observation that some forms of rickets could not be cured by regular doses of vitamin D, led to the discovery of rare inherited abnormalities of vitamin D metabolism or vitamin D receptor. Vitamin D dependent rickets (VDDR) is of two types: Type I is due to defective renal tubular 25-hydroxyvitamin D 1-α hydroxylase and type II is due to end-organ resistance to active metabolite of vitamin D. Typical signs are observed from the first month of life. The patient with rickets described below had markedly increased serum alkaline phosphatase and 1,25-dihydroxyvitamin D. We attribute these abnormalities to impaired end-organ responsiveness to 1,25-dihydroxyvitamin D.

  10. Oestradiol and testosterone binding sites in mice tibiae and their relationship with bone growth.

    PubMed

    Lopez, A; Ventanas, J; Burgos, J

    1986-11-01

    High affinity oestradiol and testosterone binding sites were found in tibiae cytosol from entire male and female of different ages. Scatchard assay allowed to estimate a Kd of 2.7 X 10(-9) M for oestradiol binding sites indicating that the 3H-oestradiol binding was of high affinity. Oestradiol and testosterone binding sites abundance in mice tibiae are subject to change with age. It is not easy to establish a direct correlation between these changes and the values reported here on bone growth in weight and length, however seems possible to point a negative relationship between bone lengthening and oestradiol binding site levels in female, as well a positive relationship with testosterone in both sexes. The presence of oestradiol and testosterone binding sites in epiphyses and not in the diaphyses reinforces the hypothesis that both are playing some role in bone growth.

  11. Little league shoulder: osteochondrosis of the proximal humeral epiphysis in boy baseball pitchers.

    PubMed

    Adams, J E

    1966-07-01

    Roentgenographic changes consistent with osteochondrosis of the proximal humeral epiphysis were observed in five young baseball pitchers complaining of shoulder pain in the throwing arm. The symptoms and findings were quite similar to the previously reported involvement of the medial epicondylar epiphysis or "Little Leaguer's elbow."The act of throwing a baseball hard is an abnormal whip-like action which places a forceful repetitious traction strain on the shoulder joint. Shoulder pain in youngsters engaged in organized competitive swimming programs can also be explained in this way. Since these entities became evident with the establishment of organized baseball programs for boys in this age group, better medical supervision and rule changes to limit the amount of pitching until the epiphyses close, are urgently needed.

  12. 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.

  13. Pituitary tumor with gigantism, acromegaly and preclinical Cushing's disease diagnosed from the 10th row.

    PubMed

    Tourtelot, John B; Vesely, David L

    2013-08-01

    A 7'3" basketball player was noted to have 2 to 3 times thicker tissue in his hands than 6'10" players by an endocrinologist sitting 10 rows above the player in a basketball arena. This led to the diagnosis of pituitary gigantism where the history revealed that he was 7'3" at 15 years of age. At age 19 when the acryl enlargement was noted, a diagnostic workup revealed elevated growth hormones and insulin-like growth factor 1 (IGF-1) with a 2 × 1.3 cm pituitary tumor. His history suggested that his epiphyseal plates had closed at age 15, and because he continued to produce IGF-1, he now has acromegaly. His elevated adrenocorticotropic hormone (ACTH) before surgery suggests that he also had preclinical Cushing's disease. After pituitary transsphenoidal surgery, all acryl enlargement in hands and ligaments disappeared. His growth hormone, IGF-1 and ACTH returned to normal 2 weeks after surgery. PMID:23462247

  14. Management of type 2 diabetes mellitus associated with pituitary gigantism.

    PubMed

    Ali, Omar; Banerjee, Swati; Kelly, Daniel F; Lee, Phillip D K

    2007-01-01

    Pituitary gigantism, a condition of endogenous growth hormone (GH) hypersecretion prior to epiphyseal closure, is a rare condition. In the adult condition of GH excess, acromegaly, the occurrence of type 2 diabetes mellitus (T2DM) and diabetic ketoacidosis (DKA) have been reported, with resolution following normalization of GH levels. We report the case of a 16-year-old male with pituitary gigantism due to a large invasive suprasellar adenoma who presented with T2DM and DKA. Despite surgical de-bulking, radiotherapy and medical treatment with cabergoline and pegvisomant, GH and insulin-like growth factor-I (IGF-I) levels remained elevated. However, the T2DM and recurrent DKA were successfully managed with metformin and low-dose glargine insulin, respectively. We review the pathophysiology of T2DM and DKA in growth hormone excess and available treatment options. PMID:17629784

  15. Osteosarcoma arising from osteochondroma of the tibia: case report and cytogenetic findings.

    PubMed

    Engel, E E; Nogueira-Barbosa, M H; Brassesco, M S; Silva, G E B; Valera, E T; Peria, F M; Motta, T C; Tone, L G

    2012-03-01

    Osteochondroma is a cartilage capped benign tumor developing mainly at the juxta-epiphyseal region of long bones. The rate of malignant transformation, mainly into chondrosarcoma, is estimated to be less than 1-3%. Transformation into osteosarcoma is very rare and has been reported only thirteen times. There is little information on treatment and outcome. We report the case of a secondary osteosarcoma arising in the left tibia of a 23-year-old male, 10 years after the initial diagnosis of osteochondroma and after two partial resections. Malignant transformation occurred at the stalk and not at the cartilage cap, as would normally be expected. Chromosome banding analysis revealed the karyotype: 46,XY, t(3;13)(q21;q34) [2]/46,XY [18]. Records from additional cases will help determine the parameters that define these rare secondary bone lesions.

  16. 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.

  17. 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).

  18. Pituitary tumor with gigantism, acromegaly and preclinical Cushing's disease diagnosed from the 10th row.

    PubMed

    Tourtelot, John B; Vesely, David L

    2013-08-01

    A 7'3" basketball player was noted to have 2 to 3 times thicker tissue in his hands than 6'10" players by an endocrinologist sitting 10 rows above the player in a basketball arena. This led to the diagnosis of pituitary gigantism where the history revealed that he was 7'3" at 15 years of age. At age 19 when the acryl enlargement was noted, a diagnostic workup revealed elevated growth hormones and insulin-like growth factor 1 (IGF-1) with a 2 × 1.3 cm pituitary tumor. His history suggested that his epiphyseal plates had closed at age 15, and because he continued to produce IGF-1, he now has acromegaly. His elevated adrenocorticotropic hormone (ACTH) before surgery suggests that he also had preclinical Cushing's disease. After pituitary transsphenoidal surgery, all acryl enlargement in hands and ligaments disappeared. His growth hormone, IGF-1 and ACTH returned to normal 2 weeks after surgery.

  19. Caffey disease in neonatal period: the importance of the family!

    PubMed

    Prior, Ana Rita; Moldovan, Oana; Azevedo, António; Moniz, Carlos

    2012-10-09

    A male newborn was apparently well until his second day of life, when increased irritability and a swelling in his right leg were noted. He was rooming-in with his mother since birth. On examination, a mass on the anterior surface of the right leg was noticed. The mass was firm, elongated, ill-defined, unmovable and painful at palpation. No overlying skin changes were seen. The newborn had a family history of neonatal bone swelling with resolution before the age of 2. Subsequent images showed hyperostosis in the diaphysis of the right tibia. After exclusion of other conditions such as trauma, osteomyelitis and congenital syphilis, the involvement of the tibial diaphysis, sparing the epiphyses and the benign course of the disease in family history, were indicative of Caffey disease. The genetic study confirmed this diagnosis. Caffey disease, although rare, should not be overlooked in the diagnostic approach to childhood bone swelling.

  20. 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.

  1. 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

  2. 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.

  3. X-ray microCT study of pyramids of the sea urchin Lytechinus variegatus.

    PubMed

    Stock, S R; Nagaraja, S; Barss, J; Dahl, T; Veis, A

    2003-01-01

    This paper reports results of a novel approach, X-ray microCT, for quantifying stereom structures applied to ossicles of the sea urchin Lytechinus variegatus. MicroCT, a high resolution variant of medical CT (computed tomography), allows noninvasive mapping of microstructure in 3-D with spatial resolution approaching that of optical microscopy. An intact pyramid (two demipyramids, tooth epiphyses, and one tooth) was reconstructed with 17 microm isotropic voxels (volume elements); two individual demipyramids and a pair of epiphyses were studied with 9-13 microm isotropic voxels. The cross-sectional maps of a linear attenuation coefficient produced by the reconstruction algorithm showed that the structure of the ossicles was quite heterogeneous on the scale of tens to hundreds of micrometers. Variations in magnesium content and in minor elemental constitutents could not account for the observed heterogeneities. Spatial resolution was insufficient to resolve the individual elements of the stereom, but the observed values of the linear attenuation coefficient (for the 26 keV effective X-ray energy, a maximum of 7.4 cm(-1) and a minimum of approximately 2 cm(-1) away from obvious voids) could be interpreted in terms of fractions of voxels occupied by mineral (high magnesium calcite). The average volume fraction of mineral determined for a transverse slice of the demipyramid near where it joins an epiphysis was 0.46; for a slice 3.3 mm adoral it was 0.70. Local volume fractions of mineral approached 1, and, away from resolvable voids, considerable portions of the demipyramids had volume fractions of calcite at or below approximately 0.33. MicroCT imaging of a demipyramid before and after infiltration with a high absorptivity fluid (sodium polytungstate) confirmed the determination of the volume fractions of minerals. PMID:12576016

  4. COMPARISON OF THE EFFECTS OF PAPAIN AND VITAMIN A ON CARTILAGE

    PubMed Central

    Thomas, Lewis; McCluskey, Robert T.; Potter, Jacobus L.; Weissmann, Gerald

    1960-01-01

    The administration of large amounts of vitamin A to rabbits has been shown to result in depletion of cartilage matrix. The normal basophilic, metachromatic, and Alcian blue staining properties of the matrix are lost, especially in articular and epiphyseal cartilage. The cartilage cells remain intact, but are reduced in size. These changes sometimes appeared as early as 48 hours after the initiation of daily injection of 1 million units of vitamin A, and were usually well established by 5 days. Some rabbits failed to show changes in cartilage, even after 5 daily injections. Increased amounts of material presumed to be chondroitin sulfate were present in the sera of vitamin A-treated rabbits, usually by 72 hours after the first injection. This was demonstrated by a turbidimetric procedure using hexamminecobaltic chloride. In rabbits given sulfur-35 (Na2S35O4) 5 days before the initiation of vitamin A treatment, it was shown that sulfur-35 was lost from articular and epiphyseal cartilage. This was associated with an increase in the non-dialyzable sulfur-35 in both serum and in the cobalt-precipitable material. These rabbits also excreted more sulfur-35 than rabbits not given vitamin A. There was a reduction in sulfur-35 activity in chondromucoprotein extracted from the ear cartilage of vitamin A-treated rabbits. The changes are interpreted as indicating that the administration of large amounts of vitamin A to rabbits results in removal of chondroitin sulfate from cartilage matrix. The administration of small amounts of crude papain causes histologic changes in cartilage that are remarkably similar to those seen in vitamin A-treated rabbits. The possibility is suggested that the changes in cartilage produced by administration of vitamin A to rabbits may be the result of activation of a proteolytic enzyme or enzymes, with properties similar to those of papain. PMID:13776507

  5. 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.

  6. 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

  7. 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

  8. Transcription Factor Erg Variants and Functional Diversification of Chondrocytes during Limb Long Bone Development

    PubMed Central

    Iwamoto, Masahiro; Higuchi, Yoshinobu; Koyama, Eiki; Enomoto-Iwamoto, Motomi; Kurisu, Kojiro; Yeh, Helena; Abrams, William R.; Rosenbloom, Joel; Pacifici, Maurizio

    2000-01-01

    During limb development, chondrocytes located at the epiphyseal tip of long bone models give rise to articular tissue, whereas the more numerous chondrocytes in the shaft undergo maturation, hypertrophy, and mineralization and are replaced by bone cells. It is not understood how chondrocytes follow these alternative pathways to distinct fates and functions. In this study we describe the cloning of C-1-1, a novel variant of the ets transcription factor ch-ERG. C-1-1 lacks a short 27–amino acid segment located ∼80 amino acids upstream of the ets DNA binding domain. We found that in chick embryo long bone anlagen, C-1-1 expression characterizes developing articular chondrocytes, whereas ch-ERG expression is particularly prominent in prehypertrophic chondrocytes in the growth plate. To analyze the function of C-1-1 and ch-ERG, viral vectors were used to constitutively express each factor in developing chick leg buds and cultured chondrocytes. We found that virally driven expression of C-1-1 maintained chondrocytes in a stable and immature phenotype, blocked their maturation into hypertrophic cells, and prevented the replacement of cartilage with bone. It also induced synthesis of tenascin-C, an extracellular matrix protein that is a unique product of developing articular chondrocytes. In contrast, virally driven expression of ch-ERG significantly stimulated chondrocyte maturation in culture, as indicated by increases in alkaline phosphatase activity and deposition of a mineralized matrix; however, it had modest effects in vivo. The data show that C-1-1 and ch-ERG have diverse biological properties and distinct expression patterns during skeletogenesis, and are part of molecular mechanisms by which limb chondrocytes follow alternative developmental pathways. C-1-1 is the first transcription factor identified to date that appears to be instrumental in the genesis and function of epiphyseal articular chondrocytes. PMID:10893254

  9. 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

  10. 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

  11. Adrenarche and skeletal maturation during luteinizing hormone releasing hormone analogue suppression of gonadarche.

    PubMed Central

    Wierman, M E; Beardsworth, D E; Crawford, J D; Crigler, J F; Mansfield, M J; Bode, H H; Boepple, P A; Kushner, D C; Crowley, W F

    1986-01-01

    During puberty the effects of adrenal androgens upon skeletal maturation are obscured by the influence of gonadal steroids. Suppression of gonadarche with an analogue of luteinizing hormone releasing hormone (LHRHa) affords an opportunity to examine the onset and progression of adrenarche in the absence of pubertal levels of gonadal steroids in a controlled fashion and to explore the relationship between adrenal androgens and the rate of epiphyseal maturation. In 29 children with central precocious puberty, gonadarche was suppressed with LHRHa administration for 1-4 yr. During LHRHa exposure, dehydroepiandrosterone sulfate (DHAS) levels, as an index of adrenal maturation, were constant or increased in an age-expected manner. The change in bone age for change in chronologic age decreased from 1.7 +/- 0.1 to 0.49 +/- 0.05 (P = 0.00005), indicating that the LHRHa-induced return to a prepubertal gonadal steroid environment was associated with a slowing of skeletal maturation. DHAS levels were correlated with the rate of skeletal advancement before (r = 0.57, P = 0.001) and during 12 to 48 mo of exposure to LHRHa (r = 0.52, P = 0.003). A negative correlation of DHAS values with subsequent increases in predicted mature height was observed (r = -0.49, P = 0.007). Thus, in children with central precocious puberty, adrenarche progressed normally during LHRHa suppression of gonadarche. In children with the onset of progression of adrenarche during maintenance of a prepubertal gonadal steroid milieu, there was less evidence than in preadrenarchal children of a restraint upon skeletal maturation. These data suggest that adrenal androgens contribute importantly to epiphyseal advancement during childhood. PMID:2935557

  12. Linoleate impairs collagen synthesis in primary cultures of avian chondrocytes.

    PubMed

    Watkins, B A; Xu, H; Turek, J J

    1996-06-01

    The effects of supplemental fatty acids, vitamin E (VIT E), and iron-induced oxidative stress on collagen synthesis, cellular injury, and lipid peroxidation were evaluated in primary cultures of avian epiphyseal chondrocytes. The treatments included oleic and linoleic acids (O or 50 microM) complexed with BSA and dl-alpha-tocopheryl acetate (VIT E at 0 or 100 microM). After 14 days of preculture, the chondrocytes were enriched with fatty acids for 8 days then cultured with VIT E for 2 days. The chondrocytes were then treated with ferrous sulfate (O or 20 microM) for 24 hr to induce oxidative stress. Collagen synthesis was the lowest and the activity of lactate dehydrogenase (LDH) was the highest in chondrocyte cultures treated with 50 microM linoleic acid and 0 VIT E. In contrast, VIT E supplemented at 100 microM partially restored collagen synthesis in the chondrocytes enriched with linoleic acid and lowered LDH activity in the media. The iron oxidative inducer significantly increased the values of thiobarbituric acid-reactive substances (TBARS) in the culture medium. The data showed that linoleic acid impaired chondrocyte cell function and caused cellular injury but that VIT E reversed these effects. Results from a previous study demonstrated that VIT E stimulated bone formation in chicks fed unsaturated fat, and the present findings in cultures of epiphyseal chondrocytes suggest that VIT E is important for chondrocyte function in the presence of polyunsaturated fatty acids. VIT E appears to be beneficial for growth cartilage biology and in optimizing bone growth.

  13. The role of CT analyses of the sternal end of the clavicle and the first costal cartilage in age estimation.

    PubMed

    Milenkovic, Petar; Djuric, Marija; Milovanovic, Petar; Djukic, Ksenija; Zivkovic, Vladimir; Nikolic, Slobodan

    2014-09-01

    The ossification patterns of medial clavicle and the first costal cartilage represent interesting features of the same anatomical region which are accessible for conventional radiographic and computed tomography (CT) examinations in the same field of view. This study encompassed Serbian population and was carried out to examine whether CT analyses of medial clavicle and the first costal cartilage could be successfully applied, either individually or conjointly, in the age assessment. The study was based on CT examinations of thoracic region of 154 patients, aged between 15 and 35 years. Besides radiodensity and stages of epiphyseal cartilage ossification of medial clavicle, the study detected other features that expressed significant correlation with age, such as calculated anterior to posterior cortical thickness ratio, medullar canal diameter, and clavicular shaft diameter. However, although calculated ossified and calcified linear projections' (OCP) stages correlated to age, the distinction between stages was not satisfying. The interaction between the ossification status of medial clavicle and OCP was not significantly influenced by age. The results of our study outlined interesting new age predictors with mutual relationship: acquired radio density of the sternal epiphyseal-metaphyseal region and radio density of the first costal cartilage. Intersex variability was observed in several age-related features: calculated anterior to posterior cortical thickness ratio, diameter of medullar canal, and diameter of the clavicular shaft. Altogether, our study identified several radiological features of the first costal cartilage and medial clavicle that correlated with age and which could be applied as additional guidance for age estimation in each specific case. PMID:24957198

  14. 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

  15. Osteopontin gene expression and alkaline phosphatase activity in avian tibial dyschondroplasia.

    PubMed

    Knopov, V; Leach, R M; Barak-Shalom, T; Hurwitz, S; Pines, M

    1995-04-01

    Osteopontin (OPN) gene expression and alkaline phosphatase activity were evaluated in the epiphyseal growth plates of normal chickens and in diet-induced tibial dyschdroplasia (TD)-afflicted chickens. In the normal growth plate, OPN gene was expressed by a) cells of the subperichondrial zone surrounding the articular cartilage, b) a narrow layer of hypertrophic chondrocytes at the hypertrophic zone, and c) lower hypertrophic chondrocytes at the zone of matrix calcification and endochondral bone formation. The latter two layers were separated by OPN-negative chondrocytes. Osteopontin gene was not expressed throughout the zone of articular cartilage in the nonhypertrophic or upper hypertrophic portions of the growth plate cartilage. Only at sites of calcification of the lower hypertrophic zone was the expression of the OPN gene associated with alkaline phosphatase activity. In all TD lesions, regardless of the induction procedure, the layer of chondrocytes of the lower hypertrophic zone expressing the OPN gene and the layer of OPN-negative cells separating the two areas of OPN-expressing cells were grossly enlarged. This resulted in a wide discontinuity between the chondrocytes of the lower hypertrophic zone expressing the OPN gene and the cells expressing the OPN gene that are associated with mineralization. In TD, no alkaline phosphatase activity was detected within the growth plate cartilage, but normal OPN gene expression was observed at the subperichondrium zone and at the zone of endochondral bone formation. The results of this study suggest that in the epiphyseal growth plate, OPN expression is not restricted to sites of bone calcification.

  16. Prenatal ethanol exposure disrupts the histological stages of fetal bone development.

    PubMed

    Snow, M E; Keiver, K

    2007-08-01

    Maternal ethanol intake during pregnancy results in impairments in general growth and skeletal development in the offspring. We have previously shown that ethanol retards skeletal ossification at doses lower than those that affect growth. Moreover, skeletal sites vary in their sensitivity to ethanol effects, with more severe effects occurring in bones that undergo a greater proportion of their development in utero. Taken together, these data suggest that ethanol has specific effects on bone development, and that later stages in the ossification process may be particularly affected. Such effects could have important implications for the offspring's long-term bone health, as studies suggest that the intrauterine environment can program the skeleton. The present study examined the histological stages of bone development to determine if prenatal ethanol exposure alters the morphological development of the growth plate in the fetal rat. Rats were fed a liquid diet containing ethanol (Ethanol, E group), or without ethanol (Pair-Fed, PF, or Control, C groups) for 6 weeks: 3 weeks prior to breeding and during 3 weeks of pregnancy. Fetal tibiae were fixed, decalcified and stained for histological analysis on day 21 of gestation. Maternal ethanol intake resulted in a significant decrease in fetal total bone and diaphysis lengths, compared with tibiae from PF and C fetuses. Although the lengths of the epiphyses were not affected, ethanol disrupted the organization of the histological zones within the epiphyses. Prenatal ethanol exposure decreased the length of the resting zone, but increased the length of the hypertrophic zone. Enlargement of the hypertrophic zone is consistent with an effect of ethanol on the later stages of bone development; however, ethanol's effect on the resting zone indicates that earlier stages of bone development may also be disrupted. The functional significance of these morphological changes to long-term bone health remains to be determined.

  17. High dietary cholesterol masks type 2 diabetes-induced osteopenia and changes in bone microstructure in rats.

    PubMed

    Lapmanee, Sarawut; Charoenphandhu, Narattaphol; Aeimlapa, Ratchaneevan; Suntornsaratoon, Panan; Wongdee, Kannikar; Tiyasatkulkovit, Wacharaporn; Kengkoom, Kanchana; Chaimongkolnukul, Khuanjit; Seriwatanachai, Dutmanee; Krishnamra, Nateetip

    2014-10-01

    Type 2 diabetes mellitus (T2DM) often occurs concurrently with high blood cholesterol or dyslipidemia. Although T2DM has been hypothesized to impair bone microstructure, several investigations showed that, when compared to age-matched healthy individuals, T2DM patients had normal or relatively high bone mineral density (BMD). Since cholesterol and lipids profoundly affect the function of osteoblasts and osteoclasts, it might be cholesterol that obscured the changes in BMD and bone microstructure in T2DM. The present study, therefore, aimed to determine bone elongation, epiphyseal histology, and bone microstructure in non-obese T2DM Goto-Kakizaki rats treated with normal (GK-ND) and high cholesterol diet. We found that volumetric BMD was lower in GK-ND rats than the age-matched wild-type controls. In histomorphometric study of tibial metaphysis, T2DM evidently suppressed osteoblast function as indicated by decreases in osteoblast surface, mineral apposition rate, and bone formation rate in GK-ND rats. Meanwhile, the osteoclast surface and eroded surface were increased in GK-ND rats, thus suggesting an activation of bone resorption. T2DM also impaired bone elongation, presumably by retaining the chondrogenic precursor cells in the epiphyseal resting zone. Interestingly, several bone changes in GK rats (e.g., increased osteoclast surface) disappeared after high cholesterol treatment as compared to wild-type rats fed high cholesterol diet. In conclusion, high cholesterol diet was capable of masking the T2DM-induced osteopenia and changes in several histomorphometric parameters that indicated bone microstructural defect. Cholesterol thus explained, in part, why a decrease in BMD was not observed in T2DM, and hence delayed diagnosis of the T2DM-associated bone disease.

  18. Histopathology of chondronecrosis development in knee articular cartilage in a rat model of Kashin-Beck disease using T-2 toxin and selenium deficiency conditions.

    PubMed

    Guan, Fang; Li, Siyuan; Wang, Zhi-Lun; Yang, Haojie; Xue, Senghai; Wang, Wei; Song, Daiqing; Zhou, Xiaorong; Zhou, Wang; Chen, Jing-Hong; Caterson, Bruce; Hughes, Clare

    2013-01-01

    The objective of this study is to observe pathogenic lesions of joint cartilages in rats fed with T-2 toxin under a selenium deficiency nutrition status in order to determine possible etiological factors causing Kashin-Beck disease (KBD). Sprague-Dawley rats were fed selenium-deficient or control diets for 4 weeks prior to their being exposed to T-2 toxin. Six dietary groups were formed and studied 4 weeks later, i.e., controls, selenium-deficient, low T-2 toxin, high T-2 toxin, selenium-deficient diet plus low T-2 toxin, and selenium-deficient diet plus high T-2 toxin. Selenium deficiencies were confirmed by the determination of glutathione peroxidase activity and selenium levels in serum. The morphology and pathology (chondronecrosis) of knee joint cartilage of experimental rats were observed using light microscopy and the expression of proteoglycans was determined by histochemical staining. Chondronecrosis in deep zone of articular cartilage of knee joints was seen in both the low and high T-2 toxin plus selenium-deficient diet groups, these chondronecrotic lesions being very similar to chondronecrosis observed in human KBD. However, the chondronecrosis observed in the rat epiphyseal growth plates of animals treated with T-2 toxin alone or T-2 toxin plus selenium-deficient diets were not similar to that found in human KBD. Our results indicate that the rat can be used as a suitable animal model for studying etiological factors contributing to the pathogenesis (chondronecrosis) observed in human KBD. However, those changes seen in epiphyseal growth plate differ from those seen in human KBD probably because of the absence of growth plate closure in the rat.

  19. [Diagnostic value of bone scintigraphy with technetium pyrophosphate. Study of 250 patients].

    PubMed

    Kuntz, D; Rain, J D; Lemaire, V; Sainte-Croix, A; Ryckewaert, A

    1975-01-01

    The authors report the results they obtained by bone scintigraphy using technetium pyrophosphate. In a study of 142 patients with cancer, the authors show, as others have done, that bone scintigraphy makes it possible to find bone metastases that are radiologically undetectable and they emphasize the importance of this discovery. In 7 patients with spondylodiscitis, of whom 1 was without radiological signs at the time the scintigraphy was carried out, the authors always observed localized vertebral hyperfixation and they noted that this examination can be valuable for distinguishing spondylodiscitis from pseudo-Pott's discarthroses and from the lesions of vertebral epiphysitis, which in their experience do not result in isotopic hyperfixation. In 7 patients with epiphyseal osteonecrosis, the authors observed isotopic hyperfixation before the appearance of radiological signs. In 12 patients with osteoporosis, the authors observed hyperfixation in bone in certain compressed vertebrae, whereas other vertebrae that had probably been compressed some considerable time earlier did not fix the isotope excessively. They never observed hyperfixation in vertebrae that were not compressed. Among 5 patients with ankylosing spondylitis with radiological signs of sacro-iliac arthritis, the authors observed sacro-iliac hyperfixation in only 3 cases. Two other patients who had signs indicating ankylosing spondylarthritis, but were without radiological signs of sacro-iliac arthritis did not show sacro-iliac hyperfixation of the isotope. Among 7 patients with Paget's disease, the authors observed hyperfixation in all the bones with radiological signs of disease; in addition, in 3 patients, there was also hyperfixation in certain bones that were radiologically clear.

  20. 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

  1. 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

  2. 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.

  3. 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

  4. Estimating age from the pubic symphysis: A new component-based system.

    PubMed

    Dudzik, Beatrix; Langley, Natalie R

    2015-12-01

    The os pubis is one of the most widely used areas of the skeleton for age estimation. Current pubic symphyseal aging methods for adults combine the morphology associated with the developmental changes that occur into the mid-30s with the degenerative changes that span the latter portion of the age spectrum. The most popular methods are phase-based; however, the definitions currently used to estimate age intervals may not be adequately defined and/or accurately understood by burgeoning researchers and seasoned practitioners alike. This study identifies patterns of growth and maturation in the pubic symphysis to derive more precise age estimates for individuals under 40 years of age. Emphasis is placed on young adults to provide more informative descriptions of epiphyseal changes associated with the final phases of skeletal maturation before degeneration commences. This study investigated macroscopic changes in forensically relevant modern U.S. samples of known age, sex, and ancestry from the Maricopa County Forensic Science Center in Phoenix, Arizona as well as donated individuals from the William M. Bass Forensic and Donated Collections at the University of Tennessee, Knoxville (n=237). Age-related traits at locations with ontogenetic and biomechanical relevance were broken into components and scored. The components included the pubic tubercle, the superior apex of the face, the ventral and dorsal demifaces, and the ventral and dorsal symphyseal margins. Transition analysis was applied to elucidate the transition ages between the morphological states of each component. The categorical scores and transition analysis ages were subjected to multinomial logistic regression and decision tree analysis to derive accurate age interval estimates. Results of these analyses were used to construct a decision tree-style flow chart for practitioner use. High inter-rater agreement of the individual component traits (linear weighted kappa values ≥0.665 for all traits in the

  5. 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

  6. Angular and axial deformities of the legs of children.

    PubMed

    McDonough, M W

    1984-12-01

    Age is often a determining factor in establishing a treatment program for these axial and angular problems. As can be seen, the deformities of torsion are noticeable from early life. Any tibial torsion should be treated early, but an excessive medial range of motion in the infant leg with a corresponding adequate lateral range of motion of the limb may be cautiously observed. Medial femoral torsion is a normal early finding in the infant thigh. The problem becomes evident as the child matures without the corresponding reduction in femoral torsion, leading to a persistence of fetal or infantile alignment. The gait consequences are usually noticed at 4 to 8 years of age. The angular changes generally are a delayed finding noticed in stance. The bowleg may be associated with marked tibial torsion and picked up early but the Blount's patient has been traditionally definable at 2 years of age. Levin and Drennan may hasten the time of diagnosis with their radiographic criteria. Knock-knee is an alignment disturbance noticed during the early to mid-childhood years, age 4 to 8 years. The diagnosis is important, differentiating physiologic from torsion-related deformities, and treatment, if warranted, should not be delayed. Generally the earlier these problems are discovered, the more optimistic the prognosis. Since the pediatric limb is in a constant state of transition, there will be a perpetual argument as to the need or efficacy of various approaches to the problems of knock-knee and bowleg. If observation is the treatment of choice, the percentage of cases which go on to osteotomies and epiphyseal stapling will continue. For those with axial or angular deformities, degenerative arthritis of the knee may be forthcoming. Swanson, Greene, and Allis warned of problems becoming "unphysiologic." If we consider the epiphyseal malleability, not only to deformity but to correction, we can appreciate Lenoir's comment of "every day the problem goes untreated is a golden

  7. 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

  8. The treatment of an unstable slipped capital femoral epiphysis by either intracapsular cuneiform osteotomy or pinning in situ: a comparative study.

    PubMed

    Walton, R D M; Martin, E; Wright, D; Garg, N K; Perry, D; Bass, A; Bruce, C

    2015-03-01

    We undertook a retrospective comparative study of all patients with an unstable slipped capital femoral epiphysis presenting to a single centre between 1998 and 2011. There were 45 patients (46 hips; mean age 12.6 years; 9 to 14); 16 hips underwent intracapsular cuneiform osteotomy and 30 underwent pinning in situ, with varying degrees of serendipitous reduction. No patient in the osteotomy group was lost to follow-up, which was undertaken at a mean of 28 months (11 to 48); four patients in the pinning in situ group were lost to follow-up, which occurred at a mean of 30 months (10 to 50). Avascular necrosis (AVN) occurred in four hips (25%) following osteotomy and in 11 (42%) following pinning in situ. AVN was not seen in five hips for which osteotomy was undertaken > 13 days after presentation. AVN occurred in four of ten (40%) hips undergoing emergency pinning in situ, compared with four of 15 (47%) undergoing non-emergency pinning. The rate of AVN was 67% (four of six) in those undergoing pinning on the second or third day after presentation. Pinning in situ following complete reduction led to AVN in four out of five cases (80%). In comparison, pinning in situ following incomplete reduction led to AVN in 7 of 21 cases (33%). The rate of development of AVN was significantly higher following pinning in situ with complete reduction than following intracapsular osteotomy (p = 0.048). Complete reduction was more frequent in those treated by emergency pinning and was strongly associated with AVN (p = 0.005). Non-emergency intracapsular osteotomy may have a protective effect on the epiphyseal vasculature and should be undertaken with a delay of at least two weeks. The place of emergency pinning in situ in these patients needs to be re-evaluated, possibly in favour of an emergency open procedure or delayed intracapsular osteotomy. Non-emergency pinning in situ should be undertaken after a delay of at least five days, with the greatest risk at two and three days after

  9. 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

  10. Subcapital Correction Osteotomy for Malunited Slipped Capital Femoral Epiphysis

    PubMed Central

    Anderson, Lucas A.; Gililland, Jeremy; Pelt, Christoper; Peters, Christopher L.

    2013-01-01

    Background Slipped capital femoral epiphysis (SCFE), causing posterior and inferior displacement and retroversion of the femoral head, is a well-recognized etiology for femoroacetabular impingement (FAI) and can lead to premature arthritis in the young adult. The treatment of malunited SCFE remains controversial. Surgical dislocation and subcapital correction osteotomy (SCO) has been described as a powerful method to correct the proximal femoral deformity. Methods Between January 2003 and January 2010, 11 patients (12 hips) with closed femoral physes and symptomatic FAI from malunited SCFE were treated with surgical dislocation and SCO. We performed a retrospective review of patient histories, physical exams, operative findings, and pre and postoperative anteroposterior (AP) and groin lateral (GLat) radiographs. Mean follow-up was 61 months. Results There were 4 female and 7 male patients with an average age of 15 years at the time of SCO. On the AP radiograph the mean inferior femoral head displacement (AP epiphyseal-neck angle) was significantly improved (-26° to -6°, p<0.001). On the groin lateral radiograph the mean posterior femoral head displacement (Lateral epiphyseal-neck angle) was significantly improved (-45° to -3°, p<0.001). The mean alpha angle was also significantly improved on both views (AP: 85° to 56°, P<0.001; GLat: 85° to 46°, p<0.001). Operative findings included one femoral osteochondral defect, 8 Outerbridge grade 3-4 acetabular cartilage lesions, and 10 labral lesions. Significant improvement of the mean Harris hip score (HHS) was seen at latest follow-up (54 to 77, p=0.016). Complications occurred in 4 of the 12 cases with AVN in two patients, a worse postoperative HHS in one patient, and failure of fixation treated successfully with revision open reduction internal fixation in one patient. Conclusions Subcapital correction osteotomy as an adjunct to surgical dislocation and osteochondroplasty can be used to correct the deformity of

  11. 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

  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. Histological Confirmation and Biological Significance of Cartilage Canals Demonstrated Using High Field MRI in Swine at Predilection Sites of Osteochondrosis

    PubMed Central

    Tóth, Ferenc; Nissi, Mikko J.; Zhang, Jinjin; Benson, Michael; Schmitter, Sebastian; Ellermann, Jutta M.; Carlson, Cathy S.

    2014-01-01

    Cartilage canal vessels in epiphyseal cartilage have a pivotal role in the pathogenesis of osteochondrosis/osteochondritis dissecans. The present study aimed to validate high field magnetic resonance imaging (MRI) methods to visualize these vessels in young pigs. Osteochondral samples from the distal femur and distal humerus (predilection sites of osteochondrosis) of piglets were imaged post-mortem: (1) using susceptibility-weighted imaging (SWI) in an MRI scanner, followed by histological evaluation; and (2) after barium perfusion using μCT, followed by clearing techniques. In addition, both stifle joints of a 25-day-old piglet were imaged in vivo using SWI and gadolinium enhanced T1-weighted MRI, after which distal femoral samples were harvested and evaluated using μCT and histology. Histological sections were compared to corresponding MRI slices, and three-dimensional visualizations of vessels identified using MRI were compared to those obtained using μCT and to the cleared specimens. Vessels contained in cartilage canals were identified using MRI, both ex vivo and in vivo; their locations matched those observed in the histological sections, μCT images, and cleared specimens of barium-perfused tissues. The ability to visualize cartilage canal blood vessels by MRI, without using a contrast agent, will allow future longitudinal studies to evaluate their role in developmental orthopedic disease. PMID:23939946

  14. Hunter-McAlpine craniosynostosis phenotype associated with skeletal anomalies and interstitial deletion of chromosome 17q

    SciTech Connect

    Thomas, J.; Prescott, K.; Milner, R.

    1994-09-01

    Syndromic craniosynostosis is frequently associated with skeletal abnormalities, but the biological basis for this association is unclear. Molecular genetic studies have the biological basis for this association is unclear. Molecular genetic studies have identified a number of loci and at least one candidate gene, the MSX2 gene. We recently encountered a 9 y.o. boy with moderate mental retardation, congenital craniosynostosis, and multiple skeletal anomalies. Physical features strongly suggested Hunter-McAlpine syndrome (HMS). Specifically, he had triangular facies with a small mouth prominent chin, bulbous nose, thin vermillion border, malaligned and malformed teeth, and low set, rudimentary ears. Skeletal features included: bilambdoidal, bicoronal, and sagittal craniosynostosis; right preaxial polydactyly; bilateral talipes; coxa valga; genu valgum; bilateral fusion of the hamate and capitate; scoliosis; and small, irregular middle phalangeal epiphyses. High resolution chromosome analysis revealed an interstitial deletion of G negative material of subbands q23.1{r_arrow}23.3 or q23.3{r_arrow}q24.2 of a No. 17 homologue. HMS, a presumed autosomal dominant disorder associated with characteristic facies, variable degrees of mental retardation, craniosynostosis, and minor acral-skeletal anomalies, proved to be the most likely explanation for this patient`s findings. We propose that our patient has a new mutation for HMS with more severe skeletal involvement than previously reported. Linkage studies are in progress to test the hypothesis that familial HMS may be localized to chromosome 17.

  15. [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.

  16. Object-oriented approach to the automatic segmentation of bones from pediatric hand radiographs

    NASA Astrophysics Data System (ADS)

    Shim, Hyeonjoon; Liu, Brent J.; Taira, Ricky K.; Hall, Theodore R.

    1997-04-01

    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 development of this system draws principles from object-oriented design, model- guided analysis, and feedback control. A system architecture called 'the object segmentation machine' was implemented incorporating these design philosophies. The system is aided by a knowledge base where all model contours and other information such as age, race, and sex, are stored. These models include object structure models, shape models, 1-D wrist profiles, and gray level histogram models. Shape analysis is performed first by using an arc-length orientation transform to break down a given contour into elementary segments and curves. Then an interpretation tree is used as an inference engine to map known model contour segments to data contour segments obtained from the transform. Spatial and anatomical relationships among contour segments work as constraints from shape model. These constraints aid in generating a list of candidate matches. The candidate match with the highest confidence is chosen to be the current intermediate result. Verification of intermediate results are perform by a feedback control loop.

  17. Bioactivity and bone healing properties of biomimetic porous composite scaffold: in vitro and in vivo studies.

    PubMed

    Veronesi, Francesca; Giavaresi, Gianluca; Guarino, Vincenzo; Raucci, Maria Grazia; Sandri, Monica; Tampieri, Anna; Ambrosio, Luigi; Fini, Milena

    2015-09-01

    Tissue engineering (TE) represents a valid alternative to traditional surgical therapies for the management of bone defects that do not regenerate spontaneously. Scaffolds, one of the most important component of TE strategy, should be biocompatible, bioactive, osteoconductive, and osteoinductive. The aim of this study was to evaluate the biological properties and bone regeneration ability of a porous poly(ɛ-caprolactone) (PCL) scaffold, incorporating MgCO3 -doped hydroxyapatite particles, uncoated (PCL_MgCHA) or coated by apatite-like crystals via biomimetic treatment (PCL_MgCHAB). It was observed that both scaffolds are not cytotoxic and, even if cell viability was similar on both scaffolds, PCL_MgCHAB showed higher alkaline phosphatase and collagen I (COLL I) production at day 7. PCL_MgCHA induced more tumor necrosis factor-α release than PCL_MgCHAB, while osteocalcin was produced less by both scaffolds up to 7 days and no significant differences were observed for transforming growth factor-β synthesis. The percentage of new bone trabeculae growth in wide defects carried out in rabbit femoral distal epiphyses was significantly higher in PCL_MgCHAB in comparison with PCL_MgCHA at 4 weeks and even more at 12 weeks after implantation. This study highlighted the role of a biomimetic composite scaffold in bone regeneration and lays the foundations for its future employment in the clinical practice.

  18. 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

  19. Effects of electrical stimulation on rat limb regeneration, a new look at an old model

    PubMed Central

    Leppik, Liudmila P.; Froemel, Dara; Slavici, Andrei; Ovadia, Zachri N.; Hudak, Lukasz; Henrich, Dirk; Marzi, Ingo; Barker, John H.

    2015-01-01

    Limb loss is a devastating disability and while current treatments provide aesthetic and functional restoration, they are associated with complications and risks. The optimal solution would be to harness the body’s regenerative capabilities to regrow new limbs. Several methods have been tried to regrow limbs in mammals, but none have succeeded. One such attempt, in the early 1970s, used electrical stimulation and demonstrated partial limb regeneration. Several researchers reproduced these findings, applying low voltage DC electrical stimulation to the stumps of amputated rat forelimbs reporting “blastema, and new bone, bone marrow, cartilage, nerve, skin, muscle and epiphyseal plate formation”. In spite of these encouraging results this research was discontinued. Recently there has been renewed interest in studying electrical stimulation, primarily at a cellular and subcellular level, and studies have demonstrated changes in stem cell behavior with increased proliferation, differentiation, matrix formation and migration, all important in tissue regeneration. We applied electrical stimulation, in vivo, to the stumps of amputated rat limbs and observed significant new bone, cartilage and vessel formation and prevention of neuroma formation. These findings demonstrate that electricity stimulates tissue regeneration and form the basis for further research leading to possible new treatments for regenerating limbs. PMID:26678416

  20. 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

  1. 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

  2. Postnatal development of the skull of Dinilysia patagonica (Squamata-stem Serpentes).

    PubMed

    Scanferla, Agustín; Bhullar, Bhart-Anjan S

    2014-03-01

    The snake skull represents a profound transformation of the ancestral squamate cranium in which dermal skull roof bones were integrated with the braincase, in a manner convergent with that which occurred during the origin of mammals. However, the ontogeny of snake characters at the origin of the clade has until now been inaccessible. Here we describe a postnatal ontogenetic series of the Late Cretaceous stem snake Dinilysia patagonica and compare it to that of extant lizards and snakes. Comparative analysis indicates notable ontogenetic changes, including advanced state of ossification, isometric growth of the otic capsule, fusion of the stylohyal to the quadrate, and great posterior elongation of the supratemporal. Of these transformations, the unfused condition of braincase bones and the retention of a large otic capsule in adults are examples of paedomorphic and peramorphic processes, respectively. Some ontogenetic transformations detected, in particular those present in middle ear, skull roof and suspensorium, are strikingly similar to those present in extant snakes. Nevertheless, Dinilysia retains a lizard-like paroccipital process without an epiphyseal extremity, and a calcified epiphysis that caps the sphenoccipital tubercle. Finally, the integration of the dermal skull roof with the braincase is similar to that seen in mammals with regard to the overall closure of the braincase, but the two evolutionary and developmental modules appear less integrated in snakes in that the parietal bone of the dermal skull roof progressively overlaps the supraoccipital of the chondrocranial braincase.

  3. A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome

    PubMed Central

    Muenke, M.; Gripp, K. W.; McDonald-McGinn, D. M.; Gaudenz, K.; Whitaker, L. A.; Bartlett, S. P.; Markowitz, R. I.; Robin, N. H.; Nwokoro, N.; Mulvihill, J. J.; Losken, H. W.; Mulliken, J. B.; Guttmacher, A. E.; Wilroy, R. S.; Clarke, L. A.; Hollway, G.; Adès, L. C.; Haan, E. A.; Mulley, J. C.; Cohen, M. M.; Bellus, G. A.; Francomano, C. A.; Moloney, D. M.; Wall, S. A.; Wilkie, A. O. M.; Zackai, E. H.

    1997-01-01

    The underlying basis of many forms of syndromic craniosynostosis has been defined on a molecular level. However, many patients with familial or sporadic craniosynostosis do not have the classical findings of those craniosynostosis syndromes. Here we present 61 individuals from 20 unrelated families where coronal synostosis is due to an amino acid substitution (Pro250Arg) that results from a single point mutation in the fibroblast growth factor receptor 3 gene on chromosome 4p. In this instance, a new clinical syndrome is being defined on the basis of the molecular finding. In addition to the skull findings, some patients had abnormalities on radiographs of hands and feet, including thimble-like middle phalanges, coned epiphyses, and carpal and tarsal fusions. Brachydactyly was seen in some cases; none had clinically significant syndactyly or deviation of the great toe. Sensorineural hearing loss was present in some, and developmental delay was seen in a minority. While the radiological findings of hands and feet can be very helpful in diagnosing this syndrome, it is not in all cases clearly distinguishable on a clinical basis from other craniosynostosis syndromes. Therefore, this mutation should be tested for in patients with coronal synostosis. ImagesFigure 2Figure 3Figure 4 PMID:9042914

  4. The Clinical Approach Toward Giant Cell Tumor of Bone

    PubMed Central

    van der Heijden, Lizz; Dijkstra, P.D. Sander; van de Sande, Michiel A.J.; Kroep, Judith R.; Nout, Remi A.; van Rijswijk, Carla S.P.; Bovée, Judith V.M.G.; Hogendoorn, Pancras C.W.

    2014-01-01

    We provide an overview of imaging, histopathology, genetics, and multidisciplinary treatment of giant cell tumor of bone (GCTB), an intermediate, locally aggressive but rarely metastasizing tumor. Overexpression of receptor activator of nuclear factor κB ligand (RANKL) by mononuclear neoplastic stromal cells promotes recruitment of numerous reactive multinucleated giant cells. Conventional radiographs show a typical eccentric lytic lesion, mostly located in the meta-epiphyseal area of long bones. GCTB may also arise in the axial skeleton and very occasionally in the small bones of hands and feet. Magnetic resonance imaging is necessary to evaluate the extent of GCTB within bone and surrounding soft tissues to plan a surgical approach. Curettage with local adjuvants is the preferred treatment. Recurrence rates after curettage with phenol and polymethylmethacrylate (PMMA; 8%–27%) or cryosurgery and PMMA (0%–20%) are comparable. Resection is indicated when joint salvage is not feasible (e.g., intra-articular fracture with soft tissue component). Denosumab (RANKL inhibitor) blocks and bisphosphonates inhibit GCTB-derived osteoclast resorption. With bisphosphonates, stabilization of local and metastatic disease has been reported, although level of evidence was low. Denosumab has been studied to a larger extent and seems to be effective in facilitating intralesional surgery after therapy. Denosumab was recently registered for unresectable disease. Moderate-dose radiotherapy (40–55 Gy) is restricted to rare cases in which surgery would lead to unacceptable morbidity and RANKL inhibitors are contraindicated or unavailable. PMID:24718514

  5. Microcirculation of the juvenile knee in chronic arthritis.

    PubMed

    Bünger, C; Bülow, J; Tøndevold, E; Hjermind, J

    1986-03-01

    In order to investigate pathogenetic factors in growth abnormalities of the knee in hemophilic arthropathy and juvenile rheumatoid arthritis, the hemodynamic changes of the knee following chronic synovial inflammation and elevated joint pressure were studied in puppies. Unilateral arthritis was induced by intraarticular injections of carrageenan solution. Regional blood flow (RBF) was measured by tracer microsphere technique. Microvascular volume (VV) was estimated from the distribution volumes of Cr51-labelled erythrocytes and I125 fibrinogen. Mean transit times (TT) of blood components were calculated from volume/flow ratios. The arthritic joint capsules were characterized by high RBF rates, increased VV, low tissue hematocrit (HCT) and short TT of blood. In the juxtaarticular epiphyses and the patella, RBF was largely unchanged, whereas VV was significantly elevated and TT of blood prolonged. The growth plates formed borders for the extension of these changes. The increased permeability and surface area between blood and bone in arthritis may accelerate the resorption and subsequent destruction of subchondral bone in chronic arthropathies of the juvenile knee. PMID:3956016

  6. [99mTc]diphosphonate uptake and hemodynamics in experimental arthritis: effect of naproxen in the canine carrageenan injection model.

    PubMed

    Hansen, E S; He, S Z; Søballe, K; Kjølseth, D; Henriksen, T B; Hjortdal, V E; Bünger, C

    1992-09-01

    The impact of naproxen treatment on juxta-articular hemodynamics and bone metabolism in experimental juvenile arthritis was studied in the articular carrageenan injection model. Unilateral gonarthritis was induced for 12 weeks in eight dogs receiving naproxen (dosage, 2 mg/kg) and eight controls. Regional blood flow was assessed by the microsphere method, plasma volume by the distribution space of [125I]fibrinogen, and bone metabolism by the 2-h uptake of [99mTc]diphosphonate ([99mTc]DPD). Synovial effusion was less prominent with naproxen treatment as judged by joint fluid volume and pressure. Naproxen reduced the arthritic capsular hyperemia, almost normalized a severe blood flow increase in patella and both juxta-articular epiphyses, ameliorated an expansion of plasma volume in the patella and the distal femoral epiphysis, and normalized an increased [99mTc]DPD uptake in subchondral femoral bone and the tibial cortex. Significantly increased arteriovenous shunting in the arthritic extremity was unaffected by naproxen. The study suggests that long-term cyclooxygenase inhibition offers protection against hemodynamic and metabolic changes in juxta-articular bone secondary to synovial inflammation. PMID:1500978

  7. Traumatic Fracture in a patient of Osteopoikilosis with Review of Literature

    PubMed Central

    Bansal, Rohan; Pathak, Aditya C; Sheth, Binoti; Patil, Atul K

    2013-01-01

    Introduction: Osteopoikilosis or osteopathia condensans disseminata is a rare hereditary autosomal dominant sclerosing bone dysplasia. Patients are usually asymptomatic and the diagnosis is usually made incidentally on radiographs which show presence of symmetric, multiple, well defined, small ovoid areas of increased radiodensity clustered in peri-articular osseous regions with propensity for epiphyseal and metaphyseal involvement. There are no increased risks of pathological fracture in a case of osteopoikilosis and traumatic fracture healing in a case of osteopoikilosis is similar to fracture occurring in other normal patients. Case Report: A 34 years male, electrician came with history of accidental fall from height while working in office leading to development of pain and swelling over left lower leg and ankle diagnosed with Ruedi-Allgower classification type I pilon fracture(without fibula fracture) no distal neuro-vascular deficit. Patient was offered surgical treatment in form of open reduction and internal fixation of tibial fracture by plate osteosynthesis using antero-medial approach, showed complete union and was followed up for eight months. Conclusion: Osteopoikilosis has a benign course and it should always be kept as a possible differential diagnosis for osteoblastic metastasis to avoid diagnositic dilemma. Diagnosis can be settled by routine x-rays (for type, extent and site of lesions, bones affected), clinical features of patient, histopathology and other systemic or pre-existing conditions. PMID:27298900

  8. Lower Paleolithic bone tools from the 'Spear Horizon' at Schöningen (Germany).

    PubMed

    Van Kolfschoten, Thijs; Parfitt, Simon A; Serangeli, Jordi; Bello, Silvia M

    2015-12-01

    The Lower Paleolithic locality of Schöningen 13 II-4 is famous for the discovery of wooden spears found amongst the butchered remains of numerous horses and other large herbivores. Although the spears have attracted the most interest, other aspects of the associated artifact assemblage have received less attention. Here we describe an extraordinary assemblage of 88 bone tools from the 'Spear Horizon.' This sample includes numerous long-bone shaft fragments (mostly of horse), three ribs used as 'retouchers' to resharpen flint tools, and a complete horse innominate that was used as an anvil in bipolar knapping. Most of the retouchers were prepared by scraping the diaphysis of fresh and dry long-bones. Technological analysis of the associated lithic assemblage demonstrates exhaustive resharpening to maintain functional cutting edges. Whereas the flint tools were brought to the site, curated, and maintained, the retouchers had a shorter use-history and were either discarded after a limited period or broken to extract marrow. Horse and bison metapodials with flaked and rounded epiphyses are interpreted as hammers used to break marrow bones. Several of the 'metapodial hammers' were additionally used as knapping percussors. These constitute the earliest evidence of multi-purpose bone tools in the archeological record. Our results highlight the advanced knowledge in the use of bones as tools during the Lower Paleolithic, with major implications for understanding aspects of non-lithic technology and planning depth in early hominins. PMID:26653208

  9. Skeletal manifestations of scurvy: a case report from dubai.

    PubMed

    Noordin, Shahryar; Baloch, Naveed; Salat, Muhammad Sohail; Rashid Memon, Abdul; Ahmad, Tashfeen

    2012-01-01

    Introduction. Nutritional deficiencies are rarely reported in developed countries. We report a child of Pakistani origin brought up in Dubai who developed skeletal manifestations of scurvy due to peculiar dietary habits. Case Presentation. A 4.5 year old boy presented with pain and swelling of multiple joints for three months and inability to walk for two months. Dietary history was significant for exclusive meat intake for the preceding two years. On examination the child's height and weight were below the 5th percentile for his age. He was pale and tachycardic. There was significant swelling and tenderness over the wrist, knee and ankle joints, along with painful restriction of motion. Basic blood workup was unremarkable except for anemia. However, X-rays showed delayed bone age, severe osteopenia of the long bones, epiphyseal separation, cortical thinning and dense zone of provisional calcification, suggesting a radiological diagnosis of scurvy. The child was started on vitamin C replacement therapy. Over the following two months, the pain and swelling substantially reduced and the child became able to walk. Repeat X-rays showed improvement in the bony abnormalities. Conclusion. Although scurvy is not a very commonly encountered entity in the modern era, inappropriate dietary intake can lead to skeletal abnormalities which may be confused with rickets. A high index of suspicion is thus required for prompt diagnosis of scurvy in patients with bone and joint symptoms.

  10. Locally administered zoledronic Acid therapy for giant cell tumor of bone.

    PubMed

    Nishisho, Toshihiko; Hanaoka, Naoyoshi; Endo, Kenji; Takahashi, Mitsuhiko; Yasui, Natsuo

    2011-07-07

    Giant cell tumor of bone is locally aggressive and occurs in the meta-epiphyseal region of long bones. Because of its high recurrence rate, local adjuvant therapies such as phenol or liquid nitrogen have been recommended. In the present study, zoledronic acid, a nitrogen-containing bisphosphonate, was administered locally as an adjuvant during a biopsy. An otherwise healthy 43-year-old man presented with pain and swelling in the right knee. Plain radiographs showed an osteolytic lesion of the right proximal tibia. An open biopsy was performed and the intraoperative pathologic diagnosis was giant cell tumor of bone. Following biopsy, the defect was filled with betatricalcium phosphate, and 4 mg of zoledronic acid was locally administered into the tumor lesion. Two months after the biopsy, curettage and bone grafting were performed. Sections were obtained during the curettage for histology to evaluate the response to bisphosphonate treatment. Histologic examination revealed massive tumor cell death in the lesion in which both stromal cells and osteoclast-like giant cells were necrotic. Curettage was performed and the defect was filled with a commercial preshaped hydroxyapatitetricalcium phosphate bone substitute. Eighteen months after curettage, the patient had regained full range of motion and good function of the knee, and radiographs at 18 months after curettage revealed no recurrence of giant cell tumor of bone.

  11. Metabolic programming of mesenchymal stromal cells by oxygen tension directs chondrogenic cell fate.

    PubMed

    Leijten, Jeroen; Georgi, Nicole; Moreira Teixeira, Liliana; van Blitterswijk, Clemens A; Post, Janine N; Karperien, Marcel

    2014-09-23

    Actively steering the chondrogenic differentiation of mesenchymal stromal cells (MSCs) into either permanent cartilage or hypertrophic cartilage destined to be replaced by bone has not yet been possible. During limb development, the developing long bone is exposed to a concentration gradient of oxygen, with lower oxygen tension in the region destined to become articular cartilage and higher oxygen tension in transient hypertrophic cartilage. Here, we prove that metabolic programming of MSCs by oxygen tension directs chondrogenesis into either permanent or transient hyaline cartilage. Human MSCs chondrogenically differentiated in vitro under hypoxia (2.5% O2) produced more hyaline cartilage, which expressed typical articular cartilage biomarkers, including established inhibitors of hypertrophic differentiation. In contrast, normoxia (21% O2) prevented the expression of these inhibitors and was associated with increased hypertrophic differentiation. Interestingly, gene network analysis revealed that oxygen tension resulted in metabolic programming of the MSCs directing chondrogenesis into articular- or epiphyseal cartilage-like tissue. This differentiation program resembled the embryological development of these distinct types of hyaline cartilage. Remarkably, the distinct cartilage phenotypes were preserved upon implantation in mice. Hypoxia-preconditioned implants remained cartilaginous, whereas normoxia-preconditioned implants readily underwent calcification, vascular invasion, and subsequent endochondral ossification. In conclusion, metabolic programming of MSCs by oxygen tension provides a simple yet effective mechanism by which to direct the chondrogenic differentiation program into either permanent articular-like cartilage or hypertrophic cartilage that is destined to become endochondral bone.

  12. Chondroblastoma of the Clivus: Case Report and Review

    PubMed Central

    Liu, Jonathan; Ahmadpour, Arjang; Bewley, Arnaud F.; Lechpammer, Mirna; Bobinski, Matthew; Shahlaie, Kiarash

    2015-01-01

    Background and Importance Chondroblastoma is a benign primary bone tumor that typically develops in the epiphyses of long bones. Chondroblastoma of the craniofacial skeleton is extremely rare, with most cases occurring in the squamosal portion of the temporal bone. In this report, we describe the first case of chondroblastoma of the clivus presenting with cranial neuropathy that was treated with endoscopic endonasal resection. We review the literature on craniofacial chondroblastomas with particular emphasis on extratemporal lesions. Case Presentation A 27-year-old woman presented with severe headache, left facial dysesthesias, and diplopia. Physical examination revealed hypesthesia in the left maxillary nerve dermatome, and complete left abducens nerve palsy. Imaging demonstrated an expansile intraosseous mass originating in the upper clivus with extension superiorly into the sella turcica and laterally to involve the medial wall of the left cavernous sinus. The tumor was completely resected via an endoscopic endonasal approach, with postoperative improvement in lateral gaze palsy. Histopathology was consistent with chondroblastoma. Conclusion Chondroblastoma is a rare tumor of the craniofacial skeleton that should be included in the differential diagnosis of an osteolytic lesion of the clivus. Complete surgical resection remains the mainstay of treatment. PMID:26623238

  13. Surgical treatment and outcomes of temporal bone chondroblastoma.

    PubMed

    Moon, In Seok; Kim, Jin; Lee, Ho-Ki; Lee, Won-Sang

    2008-12-01

    Chondroblastoma is an uncommon primary benign bone tumor that usually arises in the epiphyses of the long bones. Temporal bone chondroblastoma is a rare primary bone tumor that affects the floor of the middle cranial fossa and temporomandibular joint (TMJ). The biological nature of temporal bone chondroblastoma is occasionally aggressive because of local invasion and is known to have a high recurrence after curettage. Therefore, complete resection is recommended. However, the literature provides little information regarding long-term surgical outcomes and complications after surgical resection. The authors have retrospectively analyzed four cases of temporal bone chondroblastoma that had been completely excised by a single surgeon with an eventual long-term follow-up. A single surgeon operated on four patients, two males and two females, with a mean age of 34 years, at the Department of Otorhinolaryngology, Severance Hospital. In all cases, the tumor involved the middle cranial fossa dura and the mandibular fossa with variable degree of infiltration. All patients have had no tumor recurrence to date (mean follow-up period of 5 years). Complete surgical resection of the temporal bone chondroblastoma is the gold standard for treatment. Precise preoperative image evaluation of tumor extension and proper management of the dura mater and temporomandibular joint (TMJ) are the major important features in complete surgical removal that minimize complications in temporal bone chondroblastoma treatment.

  14. Chondroblastoma of the patella associated with an aneurysmal bone cyst.

    PubMed

    Trebse, R; Rotter, A; Pisot, V

    2001-06-01

    Chondroblastoma is a rare, benign tumor of bone, accounting for about 1% of all bone tumor cases. It tends to affect the epiphyseal ends of long bones, most often in males during the first and second decades of life. It has well-characterized radiographic and histologic features but despite its histologically benign appearance a few cases of metastases have been reported. Local recurrences after curettage and bone grafting occur in 11% to 25% of cases. The features of a patellar chondroblastoma are the same as for other locations. In reviewing the literature we found an unusually high male-to-female ratio. It is interesting that the usual treatment of the patellar chondroblastoma has been patellectomy, whereas curettage and bone grafting has predominated in the other locations. We present a computer tomography and magnetic resonance imaging study of a case of chondroblastoma of the patella associated with an aneurysmal bone cyst. To our knowledge, it is the seventh case reported and the second with computer tomography and magnetic resonance imaging studies. We also review and discuss in detail all the cases of patellar chondroblastoma that we found in the literature.

  15. Chondroblastoma of the Clivus: Case Report and Review.

    PubMed

    Liu, Jonathan; Ahmadpour, Arjang; Bewley, Arnaud F; Lechpammer, Mirna; Bobinski, Matthew; Shahlaie, Kiarash

    2015-11-01

    Background and Importance Chondroblastoma is a benign primary bone tumor that typically develops in the epiphyses of long bones. Chondroblastoma of the craniofacial skeleton is extremely rare, with most cases occurring in the squamosal portion of the temporal bone. In this report, we describe the first case of chondroblastoma of the clivus presenting with cranial neuropathy that was treated with endoscopic endonasal resection. We review the literature on craniofacial chondroblastomas with particular emphasis on extratemporal lesions. Case Presentation A 27-year-old woman presented with severe headache, left facial dysesthesias, and diplopia. Physical examination revealed hypesthesia in the left maxillary nerve dermatome, and complete left abducens nerve palsy. Imaging demonstrated an expansile intraosseous mass originating in the upper clivus with extension superiorly into the sella turcica and laterally to involve the medial wall of the left cavernous sinus. The tumor was completely resected via an endoscopic endonasal approach, with postoperative improvement in lateral gaze palsy. Histopathology was consistent with chondroblastoma. Conclusion Chondroblastoma is a rare tumor of the craniofacial skeleton that should be included in the differential diagnosis of an osteolytic lesion of the clivus. Complete surgical resection remains the mainstay of treatment.

  16. Chondroblastoma of the femoral head: management and outcome.

    PubMed

    Strong, D P; Grimer, R J; Carter, S R; Tillman, R M; Abudu, A

    2010-03-01

    Chondroblastoma of the femoral head presents particular problems in treatment because the tumour is surrounded by articular cartilage on one side and epiphyseal plate on the other. Ten patients underwent treatment for a chondroblastoma involving the proximal femoral capital epiphysis. The patients were aged between eight and 19 years and in four the epiphysis was not yet fused. Five had curettage via a drill hole created up the femoral neck, of whom two developed local recurrence. Five had a direct approach to the chondroblastoma through the femoral neck, and there were no local recurrences in this group. Both patients with local recurrence were under 14 years of age-one was cured by a direct approach through the neck of the femur and the other by lifting a trap door of articular cartilage. Apart from one patient with a temporary leg length discrepancy, there were no other complications. We conclude that a direct approach is likely to lead to the best outcome for this rare condition.

  17. [Forensic age estimation in juveniles and young adults: Reducing the range of scatter in age diagnosis by combining different methods].

    PubMed

    Schmidt, Sven; Schramm, Danilo; Ribbecke, Sebastian; Schulz, Ronald; Wittschieber, Daniel; Olze, Andreas; Vieth, Volker; Ramsthaler, H Frank; Pfischel, Klaus; Pfeiffer, Heidi; Geserick, Gunther; Schmeling, Andreas

    2016-01-01

    The dramatic rise in the number of refugees entering Germany means that age estimation for juveniles and young adults whose age is unclear but relevant to legal and official procedures has become more important than ever. Until now, whether and to what extent the combination of methods recommended by the Study Group on Forensic Age Diagnostics has resulted in a reduction of the range of scatter of the summarized age diagnosis has been unclear. Hand skeletal age, third molar mineralization stage and ossification stage of the medial clavicular epiphyses were determined for 307 individuals aged between 10 and 29 at time of death on whom autopsies were performed at the Institutes of Legal Medicine in Berlin, Frankfurt am Main and Hamburg between 2001 and 2011. To measure the range of scatter, linear regression analysis was used to calculate the standard error of estimate for each of the above methods individually and in combination. It was found that combining the above methods led to a reduction in the range of scatter. Due to various limitations of the study, the statistical parameters determined cannot, however, be used for age estimation practice. PMID:26934764

  18. Variation in mammalian proximal femoral development: comparative analysis of two distinct ossification patterns

    PubMed Central

    Serrat, Maria A; Reno, Philip L; McCollum, Melanie A; Meindl, Richard S; Lovejoy, C Owen

    2007-01-01

    The developmental anatomy of the proximal femur is complex. In some mammals, including humans, the femoral head and greater trochanter emerge as separate ossification centres within a common chondroepiphysis and remain separate throughout ontogeny. In other species, these secondary centres coalesce within the chondroepiphysis to form a single osseous epiphysis much like the proximal humerus. These differences in femoral ontogeny have not been previously addressed, yet are critical to an understanding of femoral mineralization and architecture across a wide range of mammals and may have key implications for understanding and treating hip abnormalities in humans. We evaluated femora from 70 mammalian species and categorized each according to the presence of a ‘separate’ or ‘coalesced’ proximal epiphysis based on visual assessment. We found that ossification type varies widely among mammals: taxa in the ‘coalesced’ group include marsupials, artiodactyls, perissodactyls, bats, carnivores and several primates, while the ‘separate’ group includes hominoids, many rodents, tree shrews and several marine species. There was no clear relationship to body size, phylogeny or locomotion, but qualitative and quantitative differences between the groups suggest that ossification type may be primarily an artefact of femoral shape and neck length. As some osseous abnormalities of the human hip appear to mimic the normal morphology of species with coalesced epiphyses, these results may provide insight into the aetiology and treatment of human hip disorders such as femoroacetabular impingement and early-onset osteoarthritis. PMID:17331175

  19. 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.

  20. Regeneration of limb joints in the axolotl (Ambystoma mexicanum).

    PubMed

    Lee, Jangwoo; Gardiner, David M

    2012-01-01

    In spite of numerous investigations of regenerating salamander limbs, little attention has been paid to the details of how joints are reformed. An understanding of the process and mechanisms of joint regeneration in this model system for tetrapod limb regeneration would provide insights into developing novel therapies for inducing joint regeneration in humans. To this end, we have used the axolotl (Mexican Salamander) model of limb regeneration to describe the morphology and the expression patterns of marker genes during joint regeneration in response to limb amputation. These data are consistent with the hypothesis that the mechanisms of joint formation whether it be development or regeneration are conserved. We also have determined that defects in the epiphyseal region of both forelimbs and hind limbs in the axolotl are regenerated only when the defect is small. As is the case with defects in the diaphysis, there is a critical size above which the endogenous regenerative response is not sufficient to regenerate the joint. This non-regenerative response in an animal that has the ability to regenerate perfectly provides the opportunity to screen for the signaling pathways to induce regeneration of articular cartilage and joints.

  1. The Transcription Factor Hand1 Is Involved In Runx2-Ihh-Regulated Endochondral Ossification.

    PubMed

    Laurie, Lindsay E; Kokubo, Hiroki; Nakamura, Masataka; Saga, Yumiko; Funato, Noriko

    2016-01-01

    The developing long bone is a model of endochondral ossification that displays the morphological layers of chondrocytes toward the ossification center of the diaphysis. Indian hedgehog (Ihh), a member of the hedgehog family of secreted molecules, regulates chondrocyte proliferation and differentiation, as well as osteoblast differentiation, through the process of endochondral ossification. Here, we report that the basic helix-loop-helix transcription factor Hand1, which is expressed in the cartilage primordia, is involved in proper osteogenesis of the bone collar via its control of Ihh production. Genetic overexpression of Hand1 in the osteochondral progenitors resulted in prenatal hypoplastic or aplastic ossification in the diaphyses, mimicking an Ihh loss-of-function phenotype. Ihh expression was downregulated in femur epiphyses of Hand1-overexpressing mice. We also confirmed that Hand1 downregulated Ihh gene expression in vitro by inhibiting Runx2 transactivation of the Ihh proximal promoter. These results demonstrate that Hand1 in chondrocytes regulates endochondral ossification, at least in part through the Runx2-Ihh axis. PMID:26918743

  2. In vivo and in vitro studies of cartilage differentiation in altered gravities

    NASA Astrophysics Data System (ADS)

    Montufar-Solis, D.; Duke, P. J.; D'Aunno, D.

    The in vivo model our laboratory uses for studies of cartilage differentiation in space is the rat growth plate. Differences between missions, and in rat age and recovery times, provided differing results from each mission. However, in all missions, proliferation and differentiation of chondrocytes in the epiphyseal plate of spaceflown rats was altered as was matrix organization. In vitro systems, necessary complements to in vivo work, provide some advantages over the in vivo situation. In vitro, centrifugation of embryonic limb buds suppressed morphogenesis due to precocious differentiation, and changes in the developmental pattern suggest the involvement of Hox genes. In space, embryonic mouse limb mesenchyme cells differentiating in vitro on IML-1 had smoother membranes and lacked matrix seen in controls. Unusual formations, possibly highly ruffled membranes, were found in flight cultures. These results, coupled with in vivo centrifugation studies, show that in vivo or in vitro, the response of chondrocytes to gravitational changes follows Hert's curve as modified by Simon, i.e. decreased loading decreases differentiation, and increased loading speeds it up, but only to a point. After that, additional increases again slow down chondrogenesis.

  3. Expression of matrix metalloproteinases during impairment and recovery of the avian growth plate.

    PubMed

    Dan, H; Simsa-Maziel, S; Hisdai, A; Sela-Donenfeld, D; Monsonego Ornan, E

    2009-11-01

    Tibial dyschondroplasia (TD) is a prevalent skeletal abnormality associated with rapid growth rate in many avian species. It is characterized by the presence of a nonvascularized, nonmineralized lesion that extends from the epiphyseal growth plate into the metaphysis of the proximal tibiotarsal bones. In this study, we examined the expression of 4 members of the matrix metalloproteinase (MMP) family (MMP-2, -3, -9, and -13) in thiram-induced TD lesions and in the process of recovery from TD, by in situ hybridization analysis and quantitative real-time PCR. A model for the induction and recovery of TD was established, consisting of 3 groups of broilers: (1) thiram group, chicks fed a thiram-enriched diet to induce TD; (2) recovery group, chicks fed a thiram-enriched diet during the first week of the experiment and a normal diet from the second week on; and (3) control group, chicks fed a normal diet throughout the experimental period. In agreement with our previous data, the 4 MMP were diminished in the TD lesion (P < 0.05); however, in the current study we show that the growth plate was able to repair itself and that the MMP reappeared during the process of recovery from TD. Our results strengthen the link between MMP expression and growth-plate impairment, and we suggest that gelatinase activity (MMP-2 and 9) facilitates this process.

  4. Induction of tibial dyschondroplasia in turkeys by tetramethylthiuram disulfide (thiram).

    PubMed

    Simsa, S; Hasdai, A; Dan, H; Ornan, E M

    2007-08-01

    Tibial dyschondroplasia (TD) is a prevalent skeletal abnormality associated with rapid growth rate in many avian species; it causes enormous economic losses and is an animal welfare problem. Tibial dyschondroplasia is characterized by the presence of a nonvascularized, nonmineralized lesion that extends from the epiphyseal growth plate into the metaphysis of the proximal tibiotarsal bones. The mechanisms underlying TD development are not known, although they have been extensively studied in broilers using different induction models. However, an effective model for TD induction in turkeys has never been described. The objective of this study was to establish such a model by using tetramethylthiuram disulfide (thiram), an agent that is frequently used in broilers to induce TD. We found that dramatically longer exposures to much higher concentrations of thiram were required to induce TD in turkeys vs. broilers. In contrast to broilers, in which 50 mg/kg of thiram induces a high incidence of severe TD within 10 d, in turkeys, an exposure to 400 mg/kg of thiram for 11 wk was necessary for the development of severe TD lesions. These results show different mechanisms for TD induction in these 2 closely related species, suggesting differences in TD etiology between them.

  5. Spg20−/− mice reveal multimodal functions for Troyer syndrome protein spartin in lipid droplet maintenance, cytokinesis and BMP signaling

    PubMed Central

    Renvoisé, Benoît; Stadler, Julia; Singh, Rajat; Bakowska, Joanna C.; Blackstone, Craig

    2012-01-01

    Hereditary spastic paraplegias (HSPs; SPG1-48) are inherited neurological disorders characterized by lower extremity spasticity and weakness. Loss-of-function mutations in the SPG20 gene encoding spartin cause autosomal recessive Troyer syndrome (SPG20), which has additional features of short stature, cognitive deficits and distal amyotrophy. To identify cellular impairments underlying Troyer syndrome, we generated Spg20−/− mice, which exhibit progressive gait defects. Although gross central nervous system pathology appeared largely normal, cerebral cortical neurons cultured from neonatal Spg20−/− mice exhibited increased axon branching, a phenotype suppressed by reintroducing spartin and which required its interaction with the endosomal sorting complex required for transport (ESCRT)-III protein IST1. Analysis of the bone morphogenetic protein (BMP) signaling pathway in Spg20−/− embryonic fibroblasts indicated that Smad1/5 phosphorylation is modestly elevated, possibly due to alterations in BMP receptor trafficking. Cytokinesis was impaired in embryonic fibroblasts cultured from Spg20−/− mice, and binucleated chondrocytes were prominent in epiphyseal growth plates of bones in Spg20−/− mice, perhaps explaining the short stature of patients. Finally, adipose tissue from Spg20−/− female mice exhibited increased lipid droplet (LD) numbers and alterations in perilipin levels, supporting a role for spartin in LD maintenance. Taken together, our results support multimodal functions for spartin that provide important insights into HSP pathogenesis. PMID:22619377

  6. Estrogenic activity of glabridin and glabrene from licorice roots on human osteoblasts and prepubertal rat skeletal tissues.

    PubMed

    Somjen, Dalia; Katzburg, Sara; Vaya, Jacob; Kaye, Alvin M; Hendel, David; Posner, Gary H; Tamir, Snait

    2004-08-01

    Data from both in vivo and in vitro experiments demonstrated that glabridin and glabrene are similar to estradiol-17beta in their stimulation of the specific activity of creatine kinase, although at higher concentrations, but differ in their extent of action and interaction with other drugs. In pre-menopausal human bone cells, the response to estradiol-17beta and glabridin (at higher concentration) was higher than in post-menopausal cells; whereas, glabrene (at higher concentration) was more effective in post-menopausal cells. At both ages, the response to estradiol-17beta and glabridin was enhanced by pretreatment with the less-calcemic Vitamin D analog CB 1093 (CB) and the demonstrably non-calcemic analog JK 1624 F(2)-2 (JKF). The response to glabrene was reduced by this pretreatment. Both glabridin and glabrene stimulated creatine kinase specific activity in diaphyseal bone and epiphyseal cartilage of prepubertal female rats. Daily feeding (3-14 days) of prepubertal female rats with glabridin, estradiol-17beta or their combination, also stimulated creatine kinase specific activity. Glabridine, similarly to estradiol-17beta, also stimulated creatine kinase specific activity in ovariectomized female rats. Raloxifene, in combination with glabridin or estradiol-17beta, demonstrated the phenomenon of mutual annihilation of stimulation of creatine kinase specific activity in both epiphysis and diaphysis. Glabrene activity was not inhibited by raloxifene. Therefore, glabridin shows greater similarity to estradiol-17beta and thus greater potential, with or without Vitamin D, to modulate bone disorders in post-menopausal women.

  7. Sequential differentiation of mesenchymal stem cells in an agarose scaffold promotes a physis-like zonal alignment of chondrocytes.

    PubMed

    Schmitt, Jacqueline Frida; See, Kwee Hua; Hua, See Kwee; Yang, Zheng; Zheng, Yang; Hui, James Hoi Po; Po, James Hui Hoi; Lee, Eng Hin; Hin, Lee Eng

    2012-11-01

    Chondrocytes of the epiphyseal growth plate (physis) differentiate and mature in defined linear zones. The current study examines the differentiation of human bone marrow derived mesenchymal stem cells (hBMSCs) into zonal physeal cartilage. hBMSCs were embedded in an agarose scaffold with only the surface of the scaffold in direct contact with the culture medium. The cells were differentiated using a two-step system involving the sequential addition of TGFβ followed by BMP2. The resultant samples displayed a heterogenic population of physis-like collagen type 2 positive cells including proliferating chondrocytes and mature chondrocytes showing hypertrophy, expression of early bone markers and matrix mineralization. Histological analysis revealed a physis-like linear zonal alignment of chondrocytes in varying stages of differentiation. The less mature chondrocytes were seen at the base of the construct while hypertrophic chondrocytes and matrix mineralization was observed closer to the surface of the construct. The described differentiation protocol using hBMSCs in an agarose scaffold can be used to study the factors and conditions that influence the differentiation, proliferation, maturation, and zonal alignment of physeal chondrocytes. PMID:22517299

  8. Hyperostosis frontalis interna (HFI) and castration: the case of the famous singer Farinelli (1705–1782)

    PubMed Central

    Belcastro, Maria Giovanna; Todero, Antonio; Fornaciari, Gino; Mariotti, Valentina

    2011-01-01

    The famous castrato singer Farinelli (1705–1782) was exhumed by our research group in July 2006 for the purpose of gaining some insight into his biological profile through a study of his skeletal remains. Farinelli was castrated before puberty to preserve the treble pitch of the boy's voice into adult life. His powerful and sweet voice became legendary. In spite of its bad preservation state, the skeleton displayed some interesting characteristics that are probably related to the effects of castration, including long limb-bones, persistence of epiphyseal lines and osteoporosis. In particular, the frontal bone was affected by severe hyperostosis frontalis interna (HFI). This condition consists in a symmetrical thickening of the inner table of the bone. The epidemiology of HFI shows that it is relatively common in postmenopausal women but very rare in men. Men affected by this pathology suffer from diseases, syndromes or treatments causing androgen deficiency. In the case of Farinelli, castration was probably responsible for the onset and development of this lesion. PMID:21740437

  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. Radiology of postnatal skeletal development. Pt. 5

    SciTech Connect

    McCarthy, S.M.; Ogden, J.A.

    1982-01-01

    Thirty-one pairs of distal humeri were obtained from human cadavers ranging in age from fullterm neonates to fourteen years. These were studied morphologically and roentgenographically. Specimen roentgenography using air/cartilage interfacing demonstrated both osseous and cartilaginous components of the epiphyses. These roentgenographic aspects of development are discussed and illustrated to provide a basic reference index. The supracondylar region is characterized by a fossa which initially is in both metaphysis and epiphysis, but migrates to the metaphysis completely within the first year On either side of the fossa are osseous columns, which contrast with the broad metaphyseal bone above the columns. Within the fossa, anteriorly and posteriorly, are fat pads which may be elevated by intraarticular hematoma or reactive joint fluid. The physeal contour initially is transverse and smooth. Lappet formation progressively demarcates the epicondylar physeal regions, with the medial one becoming a functionally, but not histologically separate region. The capitellum is the first region to develop a secondary ossification center. This progressively expands into the trochlear portion of the epiphysis, a factor which predisposes to lateral condyle fracture propagation across the trochlear articular surface. The trochlea characteristically ossifies by multiple foci which fuse over time, often creating an irregular appearance to the developing ossification center. Epicondylar ossification tends to be from solitary foci. The lateral epicondylar center fuses with the capitellar center, whereas the medial epicondyle tends to be a functionally separate entity throughout development and does not normally fuse to the trochlear ossification center.

  11. Spontaneous rickets in the wild arctic fox Alopex lagopus

    SciTech Connect

    Ogden, J.A.; Conlogue, G.J.

    1981-10-01

    Normal and rachitic, skeletally immature arctic foxes (Alopex lagopus) were subjected to physical examination, roentgenographic studies, and in some cases histologic studies. The involved animals had active rickets coupled with antecedent normal diaphyseal bone formation. Evaluation of all the long bones showed highly variable manifestations of the disease, which undoubtedly reflect different rates of physeal endochondral transformation and metaphyseal remodeling. Histologic examination showed distinct patterns of widening of the physes and variable osteodystrophy in the trabecular and cortical bone of the metaphyses and epiphyseal ossification centers. These aforementioned factors certainly would necessitate different regional calcium needs and, therefore, different regional responses to an overall calcium deficiency. The physes involved in the most rapid growth rates in this period showed the most widening of the growth plate, and the most dystrophic changes in the metaphysis. Skeletal injuries, including metaphyseal fractures and slow-down of longitudinal growth (particularly in the ulna) were also evident. Because of apparent dietary differences in the affected and normal fox kits, this juvenile-onset disease was presumed due to calcium-deficient intake following weaning. To the best of our knowledge this is the first report of spontaneously occurring rickets in a wild animal in its natural habitat. There are several possible mechanisms for the variable widening of the physis and the loss of bone mineralization in these fox kits: calcium-deficient diet, binding of calcium in the bowel by high phosphorus intake, secondary hyperparathyroidism, and vitamin A toxicity.

  12. Diagnosis and management of precocious puberty.

    PubMed

    Wheeler, M D; Styne, D M

    1990-12-01

    The onset of pubertal development before the age of 8 years in girls or 9 years in boys constitutes precocious puberty. There are numerous causes of precocious puberty, which can be classified as central or peripheral precocious puberty. Central precocious puberty results from premature activation of the hypothalamic-pituitary-gonadal axis and thus presents with physical and hormonal findings similar to those found in normal puberty. Peripheral precocious puberty results from extrapituitary gonadotropin secretion or secretion of sex steroids independent of pituitary gonadotropins. All types of precocious puberty are characterized by rapid growth and advancement of skeletal age, leading to the paradox of the tall child becoming a short adult as a result of premature epiphyseal fusion. Long-acting GnRH agonists afford effective, selective, and reversible therapy of central precocious puberty without significant toxicity. GnRH agonists are not effective in managing the premature sexual maturation associated with peripheral precocious puberty, but a number of other agents have been used with some success. These agents include testolactone, ketoconazole, and medroxyprogesterone acetate. GnRH agonist treatment leads to an increase in predicted final height. To determine the true benefit of any of these agents in increasing ultimate height, there is a need for continuing studies in treated cohorts to follow growth patterns until adult stature is achieved.

  13. The effects of burial on drug detection in skeletal tissues.

    PubMed

    Desrosiers, Nathalie A; Watterson, James H

    2010-07-01

    Skeletal tissues have recently been investigated for use in post-mortem toxicology. Variables affecting drug concentration in these tissues, however, are still poorly characterized. In this work, the relative effects of burial on the response of enzyme-linked immunosorbent assay (ELISA) and gas chromatography-mass spectrometry (GC-MS) assays were examined. Rats were acutely exposed to ketamine or diazepam, euthanized and buried outdoors. After one month, the remains were exhumed and skeletal tissue drug levels were compared those of non-buried rats. A climate-controlled burial was also undertaken using defleshed bones to approximate an extended decomposition. Long bones (femora, tibiae) were isolated and separated into tissue type (diaphyseal bone, epiphyseal bone, and marrow), and according to treatment (i.e. buried or non-buried). Following methanolic extraction (bone) or simple homogenization (marrow), samples were analyzed with ELISA. Samples were then pooled according to treatment, extracted by solid phase extraction (SPE) and confirmed with GC-MS. Under the conditions examined, the effects of burial appear to be drug and tissue dependent. Ketamine-exposed tissues demonstrated the greatest differences, especially in bone marrow. In diazepam-exposed tissues, burial did not seem to greatly affect drug response and some gave greater assay response compared to the non-buried set. Overall, the data suggest that fresh tissue samples may not be representative of decomposed samples in terms of skeletal tissue drug levels.

  14. Disproportionate micromelia (Dmm): an incomplete dominant mouse dwarfism with abnormal cartilage matrix.

    PubMed

    Brown, K S; Cranley, R E; Greene, R; Kleinman, H K; Pennypacker, J P

    1981-04-01

    This paper describes a new autosomal incomplete dominant dwarfism, disproportionate micromelia, which has been characterized genetically and phenotypically, and the cartilage of homozygotes, and heterozygotes has been examined by histochemical, immunofluorescence and biochemical methods. Homozygotes, which die at birth, are disproportionately short and have cleft palates. The heterozygotes appear normal at birth but beginning at 1 week of age dwarfism is apparent and increases during growth. Histochemical and biochemical analyses of the cartilage rudiments of homozygotes at day 18 of gestation demonstrate that the cartilage growth plate is disorganized and the matrix components, collagen and proteoglycan, are altered. Total collagen synthesis is reduced by approximately 30% and the amount of type II collagen is greatly reduced. By immunofluorescence staining with collagen antibodies, it appears that type II collagen is located primarily near the cell surface of chondrocytes but is poorly distributed throughout the remainder of the matrix. The amount of proteoglycan in the cartilage matrix is reduced by approximately 70% as determined by chemical analysis of hexosamines and by [35S]sulfate incorporation. Although the proteoglycans synthesized by the mutant are normal in size and in glycosaminoglycan composition, they were more easily extractable from the matrix than were normal cartilage proteoglycans. Heterozygotes had reduced cartilage matrix proteoglycan by histochemical methods, but the organization of the epiphyseal cartilage was not abnormal. These data suggest that a reduced or abnormal cartilage matrix is the cause of the dwarfism.

  15. Skateboard and in-line skate fractures: a report of one summer's experience.

    PubMed

    Banas, M P; Dalldorf, P G; Marquardt, J D

    1992-01-01

    During a 5 month period, 26 skateboarding and 10 in-line skating fractures were seen at our institution. The radius was the most commonly injured bone in both groups. Forty-two percent of skateboard fractures required reduction and another 16% required operative intervention. Epiphyseal fractures occurred in 42% of the skateboard riders who were skeletally immature. A greater proportion of high-energy fracture patterns was recorded in contrast to earlier reports. Also, a trend towards injuries occurring on the street, as opposed to home, has been noted. Skateboard riders continue to shun protective gear and hitting a surface irregularity is the most common cause of fall. In-line skaters, on average, wear more protective gear and are more likely to continue riding after their injury. Routine protective gear and avoidance of street riding should be encouraged. Instructions stressing balance and control as opposed to showmanship are recommended. Caution is given to first time in-line skaters, as this appears to be an injury-prone period.

  16. 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.

  17. 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.

  18. Long bone histology of the stem salamander Kokartus honorarius (Amphibia: Caudata) from the Middle Jurassic of Kyrgyzstan.

    PubMed

    Skutschas, Pavel; Stein, Koen

    2015-04-01

    Kokartus honorarius from the Middle Jurassic (Bathonian) of Kyrgyzstan is one of the oldest salamanders in the fossil record, characterized by a mixture of plesiomorphic morphological features and characters shared with crown-group salamanders. Here we present a detailed histological analysis of its long bones. The analysis of a growth series demonstrates a significant histological maturation during ontogeny, expressed by the progressive appearance of longitudinally oriented primary vascular canals, primary osteons, growth marks, remodelling features in primary bone tissues, as well as progressive resorption of the calcified cartilage, formation of endochondral bone and development of cartilaginous to bony trabeculae in the epiphyses. Apart from the presence of secondary osteons, the long bone histology of Kokartus is very similar to that of miniaturized temnospondyls, other Jurassic stem salamanders, miniaturized seymouriamorphs and modern crown-group salamanders. We propose that the presence of secondary osteons in Kokartus honorarius is a plesiomorphic feature, and the loss of secondary osteons in the long bones of crown-group salamanders as well as in those of miniaturized temnospondyls is the result of miniaturization processes. Hitherto, all stem salamander long bong histology (Kokartus, Marmorerpeton and 'salamander A') has been generally described as having paedomorphic features (i.e. the presence of Katschenko's Line and a layer of calcified cartilage), these taxa were thus most likely neotenic forms. The absence of clear lines of arrested growth and annuli in long bones of Kokartus honorarius suggests that the animals lived in an environment with stable local conditions.

  19. Multimodal imaging reveals structural and functional heterogeneity in different bone marrow compartments: functional implications on hematopoietic stem cells.

    PubMed

    Lassailly, Francois; Foster, Katie; Lopez-Onieva, Lourdes; Currie, Erin; Bonnet, Dominique

    2013-09-01

    Intravital microscopy of the calvarium is the only noninvasive method for high-resolution imaging of the bone marrow (BM) and hematopoietic stem cell (HSC) niches. However, it is unclear if the calvarium is representative of all BM compartments. Using the combination of whole body optical imaging, intravital microscopy, and "in vivo fluorescence trapping," a thorough comparison of HSCs and putative HSC niches in the calvaria, epiphyses, and diaphyses, at steady state or after HSC transplantation, can be made. We report substantial heterogeneity between different BM compartments in terms of bone-remodeling activity (BRA), blood volume fraction (BVF), and hypoxia. Although BVF is high in all BM compartments, including areas adjacent to the endosteum, we found that compartments displaying the highest BVF and BRA were preferentially seeded and engrafted upon HSC transplantation. Unexpectedly, the macroanatomical distribution of HSCs at steady state is homogeneous across these 3 areas and independent of these 2 parameters and suggests the existence of "reconstituting niches," which are distinct from "homeostatic niches." Both types of niches were observed in the calvarium, indicating that endochondral ossification, the process needed for the formation of HSC niches during embryogenesis, is dispensable for the formation of HSC niches during adulthood.

  20. A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome

    SciTech Connect

    Muenke, M.; Gripp, K.W.; McDonald-McGinn, D.M.

    1997-03-01

    The underlying basis of many forms of syndromic craniosynostosis has been defined on a molecular level. However, many patients with familial or sporadic craniosynostosis do not have the classical findings of those craniosynostosis syndromes. Here we present 61 individuals from 20 unrelated families where coronal synostosis is due to an amino acid substitution (Pro250Arg) that results from a single point mutation in the fibroblast growth factor receptor 3 gene on chromosome 4p. In this instance, a new clinical syndrome is being defined on the basis of the molecular finding. In addition to the skull findings, some patients had abnormalities on radiographs of hands and feet, including thimble-like middle phalanges, coned epiphyses, and carpal and tarsal fusions. Brachydactyly was seen in some cases; none had clinically significant syndactyly or deviation of the great toe. Sensorineural hearing loss was present in some, and developmental delay was seen in a minority. While the radiological findings of hands and feet can be very helpful in diagnosing this syndrome, it is not in all cases clearly distinguishable on a clinical basis from other craniosynostosis syndromes. Therefore, this mutation should be tested for in patients with coronal synostosis. 54 refs., 4 figs., 2 tabs.

  1. PCR assay confirms diagnosis in syndrome with variably expressed phenotype: mutation detection in Stickler syndrome.

    PubMed Central

    Ahmad, N N; McDonald-McGinn, D M; Dixon, P; Zackai, E H; Tasman, W S

    1996-01-01

    Stickler syndrome is an autosomal dominant disease with ocular (severe myopia, vitreal degeneration, and retinal detachment) and other systemic manifestations (hearing loss, cleft palate, epiphyseal dysplasia, and premature osteoarthritis). As with other dominantly inherited conditions, the clinical phenotype of Stickler syndrome varies considerably. To date, all mutations have been located in the type II procollagen (COL2A1) gene. Analysis of a C-->T mutation we had identified previously, in COL2A1 gene in exon 40, in a three generation pedigree showed the loss of a cleavage site for the TaqI restriction enzyme. We designed a rapid PCR based restriction enzyme assay to detect this mutation and used it to establish the diagnosis in a neonate from the same pedigree, presenting with the first occurrence of the Pierre-Robin sequence in the family and minimal ocular findings. These results underline the potential diagnostic value of many as yet undetected DNA mutations in families affected with Stickler syndrome, since the variability of the phenotype can impede accurate diagnosis, appropriate genetic counselling, and effective intervention and prophylactic treatment for affected people. Images PMID:8863161

  2. Structure of Individual Cartilage Aggrecan Macromolecules and Their Constituent Glycosaminoglycan Chains Visualized via Atomic Force Microscopy

    NASA Astrophysics Data System (ADS)

    Ng, Laurel; Grodzinsky, Alan; Sandy, John; Plaas, Anna; Ortiz, Christine

    2003-03-01

    Aggrecan, a member of the hyalectan family of large aggregating proteoglycans is composed of a core protein, which may be substituted with ˜100 chondroitin sulfate (CS) chains and ˜25 keratan sulfate (KS) chains. This tissue-bound polyanionic structure provides >50equilibrium compressive modulus in cartilage. To visualize this structure, bovine aggrecan from fetal epiphyseal and mature nasal cartilages was adsorbed to mica that had been previously functionalized with 3-amino-propyltriethoxysilane to produce a monolayer and then imaged using tapping mode atomic force microscopy (AFM.) Individual aggrecan molecules were clearly visualized, as well as the N-terminal globular (G1) domain and individual CS-GAG chains. The core protein contour length, CS-GAG length, and height were recorded and analyzed statistically, and found to complement that obtained by electron microscopy and biochemical assays (e.g. Fluorophore Assisted Carbohydrate Electrophoresis (FACE), Western Blots). The high resolution obtained via AFM should provide new insights into conformational aspects of hyalectans at the single molecule level.

  3. Sex Assessment Using the Femur and Tibia in Medieval Skeletal Remains from Ireland: Discriminant Function Analysis.

    PubMed

    Novak, Mario

    2016-04-01

    Sex determination based on discriminant function analysis of skeletal measurements is probably the most effective method for assessment of sex in archaeological and contemporary populations due to various reasons, but it also suffers from limitations such as population specificity. In this paper standards for sex assessment from the femur and tibia in the medieval Irish population are presented. Six femoral and six tibial measurements obtained from 56 male and 45 female skeletons were subjected to discriminant function analysis. Average accuracies obtained by this study range between 87.1 and 97%. The highest level of accuracy (97%) was achieved when using combined variables of the femur and tibia (maximum diameter of femoral head and circumference at tibial nutrient foramen), as well as two variables of the tibia (proximal epiphyseal breadth and circumference at nutrient foramen). Discriminant functions using a single variable provided accuracies between 87.1 and 96% with the circumference at the level of the tibial nutrient foramen providing the best separation. High accuracy rates obtained by this research correspond to the data recorded in other studies thus confirming the importance of discriminant function analysis in assessment of sex in both archaeological and forensic contexts.

  4. Radiological imaging in pediatric rheumatic diseases

    PubMed Central

    Matuszewska, Genowefa; Zaniewicz-Kaniewska, Katarzyna; Włodkowska-Korytkowska, Monika; Smorawińska, Patrycja; Saied, Fadhil; Kunisz, Wojciech; Sudoł-Szopińska, Iwona

    2014-01-01

    Summary Radiological imaging plays a fundamental role in the diagnosis and monitoring of rheumatic diseases. The basic method of imaging is a classic X-ray picture, which for many years has been used as a single method for the recognition and evaluation of the effects of disease management. In today’s modern day treatment of rheumatic diseases, ultrasonography and magnetic resonance are more commonly performed for early detection of inflammatory changes in the region of soft tissue, subchondral bone and bone marrow. In spite of their usefulness and fundamental role in the diagnosis, X-ray still remains an essential tool in the diagnosis of rheumatoid arthritis in children and is complementary to today’s methods of imaging diagnostics. In clinical practice, X-ray imaging is still an important examination performed not only to recognize the disorders, but also to provide a differential diagnosis. It helps estimate disease progression and is used to monitor the effects of treatment and the development of possible complications. Differential diagnosis of rheumatic diseases is performed on the basis of localization and type of radiographic changes. The surrounding periarticular soft tissues, bone structures, joint space, with special attention to articular bone surfaces and epiphyses, are analyzed. The aim of this work is to describe characteristic inflammatory changes present on X-ray imaging typical for the most commonly diagnosed rheumatic diseases in children, such as juvenile idiopathic arthritis, systemic lupus erythematosus, systemic scleroderma, mixed connective tissue disease, juvenile dermatomyositis, juvenile spondyloarthropathy and systemic vascular disease. PMID:24669280

  5. Surgical Treatment of Congenital Hallux Varus

    PubMed Central

    Shim, Jong Sup; Koh, Kyoung Hwan; Lee, Do Kyung

    2014-01-01

    Background The purpose of this study was to report outcomes of congenital hallux varus deformity after surgical treatment. Methods We evaluated ten feet of eight patients with a congenital hallux varus deformity, including four feet combined with a longitudinal epiphyseal bracket (LEB). There were seven male patients and one female patient with a mean age of 33 months (range, 7 to 103 months) at the time of surgery. Two patients were bilaterally involved. The mean duration of follow-up was 5.9 years (range, 2.3 to 13.8 years). Clinical outcomes were assessed according to the criteria of Phelps and Grogan. Surgical procedures included the Farmer procedure, the McElvenny procedure or an osteotomy at the first metatarsal or proximal phalanx. Results The clinical results were excellent in two feet, good in six and poor in two feet. The LEB was associated with hallux varus in four feet and were treated by osteotomy alone or in conjunction with soft tissue procedure. Conclusions Congenital hallux varus was successfully corrected by surgery with overall favorable outcome. Preoperatively, a LEB should be considered as a possible cause of the deformity in order to prevent recurrent or residual varus after surgery. PMID:24900905

  6. Progressive joint limitations as the first alarming signs in a boy with short – limbed dwarfism: A case report

    PubMed Central

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

    2008-01-01

    Introduction Contracture is a condition of abnormal shortening or shrinkage of a muscle, and or a tendon often with persistent flexion or distortion at a joint. Careful documentation of the kind of contractures encountered in different paediatric disorders is important in distinguishing a specific subtype. Achondroplasia has been considered as the most common short-limbed dwarfism syndrome, but there are a variety of other syndromes within this category, and other types of limb shortening. Case presentation We report on a 5-year-old boy of Austrian origin who manifests progressive joint limitations in connection with a dysplastic form of short-limbed dwarfism namely chondrodysplasia punctata-tibial-metacarpal-type. Progressive joint limitations of maximal intensity over the hip, and the ankle joints were the main presenting features. Conclusion Osteochondrodysplasias involve abnormal bone or cartilage growth leading to skeletal maldevelopment, often short-limbed dwarfism. Diagnosis is by physical examination, radiographic documentation, and, in some cases, genetic testing. In patients with chondrodysplasia punctata, early life radiographic examination is fundamental, since resolution of the punctate calcifications leaving abnormal epiphyses and flared and irregular metaphyses after age one to three years seems to be characteristic. PMID:18713450

  7. Evidence for reduced cancellous bone mass in the spontaneously hypertensive rat

    NASA Technical Reports Server (NTRS)

    Wang, T. M.; Hsu, J. F.; Jee, W. S.; Matthews, J. L.

    1993-01-01

    The histomorphometric changes in the proximal tibial metaphysis and epiphyseal growth plate and midtibial shaft of 26-week-old spontaneously hypertensive rats (SHR) compared with those of the corresponding normotensive Wistar-Kyoto (WKY) rats were studied. A decrease in body weight, growth plate thickness, and longitudinal growth rate of the proximal tibial epiphysis, trabecular bone volume, trabecular thickness and number, the number of osteoblasts and osteoprogenitor cells per millimeter square surface of the proximal tibial metaphysis, periosteal and endocortical apposition rate and bone formation rate of the tibial diaphysis were observed in the SHR. Additionally, systolic blood pressure, the number of osteoclasts per millimeter square surface and average number of nuclei per osteoclast of the proximal tibial metaphysis were significantly increased. Thus, osteoclastic activity is dominant over osteoblastic and chondroblastic activity in the SHR that results in a cancellous bone deficit in the skeleton. It will require additional work to ascertain the underlying cause for this condition as several factors in the SHR with a potential for causing this change are present, including elevated parathyroid hormone (PTH), depressed 1,25-(OH)2D3, low calcium absorption, reduced body weight (reduced loading) elevated blood pressure and possibly other direct cell differences in the mutant strain. At present elevated PTH and adaptation to underloading from reduced weight are postulated to be a likely cause, but additional studies are required to test this interpretation.

  8. A technique for developing CAD geometry of long bones using clinical CT data.

    PubMed

    Davis, Matthew L; Vavalle, Nicholas A; Stitzel, Joel D; Gayzik, F Scott

    2015-11-01

    Computed tomography scans are a valuable tool for developing computational models of bones. The objective of this study is to present a method to generate CAD representations of long bones from clinically based CT scans. A secondary aim is to apply the method to six long bones from a sample of three individuals. Periosteal and endosteal bone surfaces were segmented and used to calculate the characteristic cortical thickness, Tc, at 1 mm increments along the bone axis. In the epiphyses where the value of Tc fell below the scanner threshold, the endosteal bone layer was replaced using literature values projected inward from the periosteal surface. On average, 74.7 ± 7.4% of the bone geometry was above the scanner cut-off and was therefore derived from the CT scan data. The thickness measurement was also compared to experimental measurements of cadaveric bone and was found to predict Tc with an error of 3.1%. This method presents a possible solution for the characterization of characteristic thickness along the length of the bone and may also aid in the development of orthopedic implant design and subject specific finite element models.

  9. Human bone hardness seems to depend on tissue type but not on anatomical site in the long bones of an old subject.

    PubMed

    Ohman, Caroline; Zwierzak, Iwona; Baleani, Massimiliano; Viceconti, Marco

    2013-02-01

    It has been hypothesised that among different human subjects, the bone tissue quality varies as a function of the bone segment morphology. The aim of this study was to assess and compare the quality, evaluated in terms of hardness of packages of lamellae, of cortical and trabecular bones, at different anatomical sites within the human skeleton. The contralateral six long bones of an old human subject were indented at different levels along the diaphysis and at both epiphyses of each bone. Hardness value, which is correlated to the degree of mineralisation, of both cortical and trabecular bone tissues was calculated for each indentation location. It was found that the cortical bone tissue was harder (+18%) than the trabecular one. In general, the bone hardness was found to be locally highly heterogeneous. In fact, considering one single slice obtained for a bone segment, the coefficient of variation of the hardness values was up to 12% for cortical bone and up to 17% for trabecular bone. However, the tissue hardness was on average quite homogeneous within and among the long bones of the studied donor, although differences up to 9% among levels and up to 7% among bone segments were found. These findings seem not to support the mentioned hypothesis, at least not for the long bones of an old subject.

  10. Expression of metallothionein-human growth hormone fusion genes in transgenic mice results in disproportionate skeletal gigantism.

    PubMed

    Wolf, E; Rapp, K; Brem, G

    1991-01-01

    Transgenic mice harbouring mouse metallothionein I-human growth hormone (MT-hGH) fusion genes were produced using the microinjection technique. The bones of adult MT-hGH transgenic mice, which continuously expressed high levels of hGH in their serum, and age-matched controls lacking detectable concentrations of hGH were measured microscopically. In addition to analyzing absolute skeletal dimensions, measurements were related to the cube root of the maximum body weight of the same animal. Absolute values obtained from transgenic mice were significantly higher than those obtained from controls for most of the defined measurements. However, the increase in skeletal dimensions was mostly not as pronounced as the increase in body weight and all bones were not affected to the same extent. There was no significant correlation between the serum GH concentration in individual mice and their degree of bony overgrowth. A disproportionate skeletal gigantism in MT-hGH transgenic mice may result from time differences in epiphyseal union of various bones of both sexes as well as differences in mechanical bone loading due to a drastically increased body weight. Individual concentrations of locally produced tissue insulin-like growth factor I (IGF I) might also play a role. Possible effects of these factors are discussed. The results presented in this study show that MT-hGH transgenic mice provide a powerful tool for the investigation of hormonal regulation of bone growth. PMID:1938045

  11. Evaluation of extremity pain in children using technetium-99m MDP bone scan: A general hospital experience

    SciTech Connect

    Park, H.M.; Rothschild, P.A.; Kernek, C.B.

    1984-01-01

    This study was undertaken to evaluate the efficacy of three-phase bone scan in detection of significant pathology i.e., osteomyelitis (OM), septic joint, cellulitis, etc., in children with symptoms of extremity pain. A total of 100 consecutive patients (age 9 days - 16 yrs, 63 boys and 37 girls) were studied. The authors reviewed their scans, x-rays and hospital records. The final diagnoses were based on the findings of needle aspiration, surgical drainage, biopsy, culture, and on the therapeutic response. In 87%, sufficiently long clinical follow-up was available to confirm the final diagnoses. In the remaining 13%, the symptoms resolved quickly and follow-up was not felt necessary. The scan was essential in pinpointing the lesions in pts with referred or nonlocalizing extremity pain. The +ve and -ve predictive values of the scan and OM were 89% and 96% respectively. One spiral fracture was misinterpreted as diffuse OM. One ''Subacute epiphyseal OM'' was not detected. In two cases, cellulitis and septic joint obscured underlying OM. Prior antibotic therapy resulted in one equivocal scan. Although less sensitive (29%) in early OM, radiographs play an important complimentary role. Bone scans detected underlying pathology for extremity pain in 61% of all pts studied.

  12. From an orphan disease to a generalized molecular mechanism: PTPN11 loss-of-function mutations in the pathogenesis of metachondromatosis.

    PubMed

    Yang, Wentian; Neel, Benjamin G

    2013-01-01

    Recently, loss-of-function mutations in PTPN11 were linked to the cartilage tumor syndrome metachondromatosis (MC), a rare inherited disorder featuring osteochondromas, endochondromas and skeletal deformation. However, the underlying molecular and cellular mechanism for MC remained incompletely understood. By studying the role of the Src homology-2 domain-containing protein tyrosine phosphatase Shp2 (encoded by mouse Ptpn11) in cathepsin K-expressing cells, we identified a novel cell population in the perichondrial groove of Ranvier. In the absence of Shp2, these cells exhibit elevated Indian hedgehog (Ihh) signaling, proliferate excessively and cause ectopic cartilage formation and tumors. Our findings establish a critical role for a protein-tyrosine phosphatase (PTP) family member, in addition to the well-known roles of receptor tyrosine kinases (RTKs), in cartilage development and homeostasis. However, whether Shp2 deficiency in other epiphyseal chondroid cells and whether signaling pathways in addition to the IHH/Parathyroid Hormone-related Peptide (PTHrP) axis attribute to the formation of enchondromas and osteochondromas remains elusive. Understanding how chondrogenic events are regulated by SHP2 could aid in the development of novel therapeutic approaches to prevent and treat cartilage diseases, such as MC and osteoarthritis (OA).

  13. Chondroblastoma of Diaphysis of Radius in a Seven Year Old Child

    PubMed Central

    Punit, Abhinandan; Nadkarni, Sambaprasad; Doomra, Tanvir

    2014-01-01

    Introduction: Chondroblastoma is a rare, benign tumor derived from chondroblasts, is almost exclusively an epiphyseal lesion, although it may secondarily extend into metaphysis. It is most commonly found in lower extremity with most common sites being distal femur followed by proximal femur, proximal humerus and proximal tibia. It is the purpose of the report to describe chondroblastoma in a seven year old child in the diaphyseal area of radius which is a rare entity & frequently presents as diagnostic dilemma. Case Report: The authors report a case of chondroblastoma involving the diaphyseal area of radius in a seven year old female child. She presented with pain and swelling around the left distal third forearm for eight months. Wide excision of tumor was performed and the defect was bridged with avascular fibular auto graft, secured to host bone with k-wires and dynamic compression plate to achieve osteosynthesis. Conclusion: Pure metaphyseal and/or diaphyseal chondroblastomas are exceedingly rare. A presumptive diagnosis may be considered in the appropriate age group in the presence of chondroid matrix, perilesional edema, periosteal reaction, and marginal sclerosis. Regardless of all the diagnostic possibilities biopsy may still be required. However, knowledge of this entity will help make the final diagnosis and guide the correct treatment. PMID:27298978

  14. Mycoplasma corogypsi-associated polyarthritis and tenosynovitis in black vultures (Coragyps atratus).

    PubMed

    Van Wettere, A J; Ley, D H; Scott, D E; Buckanoff, H D; Degernes, L A

    2013-03-01

    Three wild American black vultures (Coragyps atratus) were presented to rehabilitation centers with swelling of multiple joints, including elbows, stifles, hocks, and carpal joints, and of the gastrocnemius tendons. Cytological examination of the joint fluid exudate indicated heterophilic arthritis. Radiographic examination in 2 vultures demonstrated periarticular soft tissue swelling in both birds and irregular articular surfaces with subchondral bone erosion in both elbows in 1 bird. Prolonged antibiotic therapy administered in 2 birds did not improve the clinical signs. Necropsy and histological examination demonstrated a chronic lymphoplasmacytic arthritis involving multiple joints and gastrocnemius tenosynovitis. Articular lesions varied in severity and ranged from moderate synovitis and cartilage erosion and fibrillation to severe synovitis, diffuse cartilage ulceration, subchondral bone loss and/or sclerosis, pannus, synovial cysts, and epiphyseal osteomyelitis. No walled bacteria were observed or isolated from the joints. However, mycoplasmas polymerase chain reactions were positive in at least 1 affected joint from each bird. Mycoplasmas were isolated from joints of 1 vulture that did not receive antibiotic therapy. Sequencing of 16S rRNA gene amplicons from joint samples and the mycoplasma isolate identified Mycoplasma corogypsi in 2 vultures and was suggestive in the third vulture. Mycoplasma corogypsi identification was confirmed by sequencing the 16S-23S intergenic spacer region of mycoplasma isolates. This report provides further evidence that M. corogypsi is a likely cause of arthritis and tenosynovitis in American black vultures. Cases of arthritis and tenosynovitis in New World vultures should be investigated for presence of Mycoplasma spp, especially M. corogypsi.

  15. Biomechanics and mechanobiology of trabecular bone: a review.

    PubMed

    Oftadeh, Ramin; Perez-Viloria, Miguel; Villa-Camacho, Juan C; Vaziri, Ashkan; Nazarian, Ara

    2015-01-01

    Trabecular bone is a highly porous, heterogeneous, and anisotropic material which can be found at the epiphyses of long bones and in the vertebral bodies. Studying the mechanical properties of trabecular bone is important, since trabecular bone is the main load bearing bone in vertebral bodies and also transfers the load from joints to the compact bone of the cortex of long bones. This review article highlights the high dependency of the mechanical properties of trabecular bone on species, age, anatomic site, loading direction, and size of the sample under consideration. In recent years, high resolution micro finite element methods have been extensively used to specifically address the mechanical properties of the trabecular bone and provide unique tools to interpret and model the mechanical testing experiments. The aims of the current work are to first review the mechanobiology of trabecular bone and then present classical and new approaches for modeling and analyzing the trabecular bone microstructure and macrostructure and corresponding mechanical properties such as elastic properties and strength.

  16. 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

  17. Sulfate in fetal development.

    PubMed

    Dawson, Paul A

    2011-08-01

    Sulfate (SO(4)(2-)) is an important nutrient for human growth and development, and is obtained from the diet and the intra-cellular metabolism of sulfur-containing amino acids, including methionine and cysteine. During pregnancy, fetal tissues have a limited capacity to produce sulfate, and rely on sulfate obtained from the maternal circulation. Sulfate enters and exits placental and fetal cells via transporters on the plasma membrane, which maintain a sufficient intracellular supply of sulfate and its universal sulfonate donor 3'-phosphoadenosine 5'-phosphosulfate (PAPS) for sulfate conjugation (sulfonation) reactions to function effectively. Sulfotransferases mediate sulfonation of numerous endogenous compounds, including proteins and steroids, which biotransforms their biological activities. In addition, sulfonation of proteoglycans is important for maintaining normal structure and development of tissues, as shown for reduced sulfonation of cartilage proteoglycans that leads to developmental dwarfism disorders and four different osteochondrodysplasias (diastrophic dysplasia, atelosteogenesis type II, achondrogenesis type IB and multiple epiphyseal dysplasia). The removal of sulfate via sulfatases is an important step in proteoglycan degradation, and defects in several sulfatases are linked to perturbed fetal bone development, including mesomelia-synostoses syndrome and chondrodysplasia punctata 1. In recent years, interest in sulfate and its role in developmental biology has expanded following the characterisation of sulfate transporters, sulfotransferases and sulfatases and their involvement in fetal growth. This review will focus on the physiological roles of sulfate in fetal development, with links to human and animal pathophysiologies.

  18. Co-segregation of Freiberg's infraction with a familial translocation t(5;7)(p13.3;p22.2) ascertained by a child with cri du chat syndrome and brachydactyly type A1B.

    PubMed

    Myśliwiec, Marta; Panasiuk, Barbara; Dębiec-Rychter, Maria; Iwanowski, Piotr Sebastian; Łebkowska, Urszula; Nowakowska, Beata; Marcinkowska, Anna; Stankiewicz, Pawel; Midro, Alina T

    2015-02-01

    The identification of chromosomal breakpoints in association with human abnormal phenotypes can enable elucidation of gene function. We report on epiphyseal aseptic necrosis of the lesser head of the second metatarsal bone, known as Freiberg's infraction (FI), in two female carriers of the apparently balanced t(5;7)(p13.3;p22.2) ascertained by a 16-year-old girl with cri-du-chat syndrome and unusual skeletal features in association with an unbalanced translocation der(5) t(5;7)(p13.3;p22.2). Mapping of the chromosome breakpoints using fluorescent in situ hybridization (FISH) narrowed them to the coding sequence of ADAMTS12 on chromosome 5p13.3 and SDK1 on 7p22.2. In addition, several skeletal abnormalities classified as brachydactyly type A1B (BDA1B) were present in the proband and in both carriers of t(5;7)(p13.3;p22.2), suggesting a potential role of ADAMTS12 in the development of the BDA1B observed in this family. PMID:25756154

  19. Studies of marginal zinc deprivation in rhesus monkeys. V. Fetal and infant skeletal effects.

    PubMed

    Leek, J C; Vogler, J B; Gershwin, M E; Golub, M S; Hurley, L S; Hendrickx, A G

    1984-12-01

    Skeletal maturation was evaluated in newborn and infant rhesus monkeys that had been subjected to a marginally zinc-deficient diet (4 ppm zinc) from conception through 12 months of postnatal life. Serial radiographic assessment of skeletal development was performed and compared to both ad libitum and pair-fed controls. Radiographs were obtained at birth and at 1, 3, 9, and 12 months of age. In each age group a maturation indicator was selected to identify individuals with abnormal skeletal maturation defined on the basis of presence of epiphyseal ossification centers. Animals were compared only within a given sex group. Additionally, to evaluate endochondral bone mineralization, the appearance of the zone of provisional calcification on the metaphyseal side of the growth plate and the width of the growth plate were assessed. A marginal level of zinc deprivation during gestation and during the 1st yr of life was found to be associated with significantly delayed skeletal maturation and defective mineralization. This abnormality of bone mineralization has many features similar to human rachitic syndromes and suggests that zinc plays an important role in endochondral bone formation.

  20. Effect of thyroxine injection on bone growth in malnourished rats at different growth stages.

    PubMed

    Kanagawa, Y; Funaba, M; Matsui, T; Yano, H; Kawashima, R

    1987-02-01

    This study investigated the role of thyroxine on bone growth by injecting it into malnourished weaned and suckling rats. Weaned rats were fed a normal diet or a low-protein, low-energy diet, and injected with saline or thyroxine (5 micrograms/100 g BW) for 22 days. Suckling pups were injected with saline or 2 micrograms of thyroxine, and reared by dams fed a normal diet or a low-protein diet for 15 days. Thyroxine injection decreased body weight gain in both growth stages. Bone length, width and weight were not affected by thyroxine injection in weaned rats. Thyroxine injection increased femur length and tail growth, but did not change bone width in suckling rats. The epiphyseal growth plate and zone of hypertrophic cartilage cells were thinner in malnourished rats than in normal rats at both growth stages, but the number of proliferating chondrocytes was greater in suckling rats that received thyroxine injections than in those that received saline injections. The disappearance of trabeculae was observed in both normal and malnourished weaned rats upon thyroxine injection. These results suggested that retarded bone growth due to malnutrition might be independent of thyroid function in both growth stages.

  1. Cyp26b1 within the growth plate regulates bone growth in juvenile mice.

    PubMed

    Minegishi, Yoshiki; Sakai, Yasuo; Yahara, Yasuhito; Akiyama, Haruhiko; Yoshikawa, Hideki; Hosokawa, Ko; Tsumaki, Noriyuki

    2014-11-01

    Retinoic acid (RA) is an active metabolite of vitamin A and plays important roles in embryonic development. CYP26 enzymes degrade RA and have specific expression patterns that produce a RA gradient, which regulates the patterning of various structures in the embryo. However, it has not been addressed whether a RA gradient also exists and functions in organs after birth. We found localized RA activities in the diaphyseal portion of the growth plate cartilage were associated with the specific expression of Cyp26b1 in the epiphyseal portion in juvenile mice. To disturb the distribution of RA, we generated mice lacking Cyp26b1 specifically in chondrocytes (Cyp26b1(Δchon) cKO). These mice showed reduced skeletal growth in the juvenile stage. Additionally, their growth plate cartilage showed decreased proliferation rates of proliferative chondrocytes, which was associated with a reduced height in the zone of proliferative chondrocytes, and closed focally by four weeks of age, while wild-type mouse growth plates never closed. Feeding the Cyp26b1 cKO mice a vitamin A-deficient diet partially reversed these abnormalities of the growth plate cartilage. These results collectively suggest that Cyp26b1 in the growth plate regulates the proliferation rates of chondrocytes and is responsible for the normal function of the growth plate and growing bones in juvenile mice, probably by limiting the RA distribution in the growth plate proliferating zone.

  2. 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

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

    NASA Astrophysics Data System (ADS)

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

    2015-10-01

    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.

  4. 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.

  5. Development of the human elbow joint.

    PubMed

    Mérida-Velasco, J A; Sánchez-Montesinos, I; Espín-Ferra, J; Mérida-Velasco, J R; Rodríguez-Vázquez, J F; Jiménez-Collado, J

    2000-02-01

    Many studies have been published on the development of the human elbow joint, but authors disagree on its morphogenetic timetable. Most discrepancies center on the cavitation of the elbow joint (including the humeroradial, humeroulnar, and superior radioulnar joints), and the organization of the tunnel of the ulnar nerve. We summarize our observations on the development of the elbow joint in 49 serially sectioned human embryonic (n = 28) and fetal (n = 21) upper limbs. During week 12, ossification begins in the epiphyses of the elements comprising the elbow joint. At the end of the embryonic period, the shallow groove between the posterior aspect of the medial epicondyle and the olecranon process, begins to be visible. The elbow joint cavity appears in O'Rahilly stage 21 (51 days) at the level of the humeroulnar and humeroradial interzones. Formation of the cavity begins at the medialmost portion of the humeroradial interzone and the lateralmost portion of the humeroulnar interzone. The annular ligament begins to develop in O'Rahilly stage 21 (51 days), and the superior radioulnar joint cavity appears between this ligament and the lateral aspect of the head of the radius during O'Rahilly stage 23 (56 days). We established the morphogenetic timetable of the human elbow joint.

  6. 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

  7. Historical ESWT Paradigms Are Overcome: A Narrative Review

    PubMed Central

    Nauck, Tanja; Korakakis, Vasileios; Malliaropoulos, Nikos

    2016-01-01

    Extracorporeal Shock Wave Therapy (ESWT) is a conservative treatment modality with still growing interest in musculoskeletal disorders. This narrative review aims to present an overview covering 20-year development in the field of musculoskeletal ESWT. Eight historical paradigms have been identified and put under question from a current perspective: energy intensity, focus size, anesthesia, imaging, growth plates, acuteness, calcifications, and number of sessions. All paradigms as set in a historical consensus meeting in 1995 are to be revised. First, modern musculoskeletal ESWT is divided into focused and radial technology and the physical differences are about 100-fold with respect to the applied energy. Most lesions to be treated are easy to reach and clinical focusing plays a major role today. Lesion size is no longer a matter of concern. With the exception of nonunion fractures full, regional, or even local anesthesia is not helpful in musculoskeletal indications. Juvenile patients can also effectively be treated without risk of epiphyseal damage. Further research is needed to answer the question about if and which acute injuries can be managed effectively. Treatment parameters like the number of sessions are still relying on empirical data and have to be further elucidated. PMID:27493955

  8. 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

  9. 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

  10. Osteo-chondroprogenitor-specific deletion of the selenocysteine tRNA gene, Trsp, leads to chondronecrosis and abnormal skeletal development: a putative model for Kashin-Beck disease.

    PubMed

    Downey, Charlene M; Horton, Chelsea R; Carlson, Bradley A; Parsons, Trish E; Hatfield, Dolph L; Hallgrímsson, Benedikt; Jirik, Frank R

    2009-08-01

    Kashin-Beck disease, a syndrome characterized by short stature, skeletal deformities, and arthropathy of multiple joints, is highly prevalent in specific regions of Asia. The disease has been postulated to result from a combination of different environmental factors, including contamination of barley by mold mycotoxins, iodine deficiency, presence of humic substances in drinking water, and, importantly, deficiency of selenium. This multifunctional trace element, in the form of selenocysteine, is essential for normal selenoprotein function, including attenuation of excessive oxidative stress, and for the control of redox-sensitive molecules involved in cell growth and differentiation. To investigate the effects of skeletal selenoprotein deficiency, a Cre recombinase transgenic mouse line was used to trigger Trsp gene deletions in osteo-chondroprogenitors. Trsp encodes selenocysteine tRNA([Ser]Sec), required for the incorporation of selenocysteine residues into selenoproteins. The mutant mice exhibited growth retardation, epiphyseal growth plate abnormalities, and delayed skeletal ossification, as well as marked chondronecrosis of articular, auricular, and tracheal cartilages. Phenotypically, the mice thus replicated a number of the pathological features of Kashin-Beck disease, supporting the notion that selenium deficiency is important to the development of this syndrome. PMID:19696890

  11. Matrilin-3 Chondrodysplasia Mutations Cause Attenuated Chondrogenesis, Premature Hypertrophy and Aberrant Response to TGF-β in Chondroprogenitor Cells

    PubMed Central

    Jayasuriya, Chathuraka T.; Zhou, Fiona H.; Pei, Ming; Wang, Zhengke; Lemme, Nicholas J.; Haines, Paul; Chen, Qian

    2014-01-01

    Studies have shown that mutations in the matrilin-3 gene (MATN3) are associated with multiple epiphyseal dysplasia (MED) and spondyloepimetaphyseal dysplasia (SEMD). We tested whether MATN3 mutations affect the differentiation of chondroprogenitor and/or mesenchymal stem cells, which are precursors to chondrocytes. ATDC5 chondroprogenitors stably expressing wild-type (WT) MATN3 underwent spontaneous chondrogenesis. Expression of chondrogenic markers collagen II and aggrecan was inhibited in chondroprogenitors carrying the MED or SEMD MATN3 mutations. Hypertrophic marker collagen X remained attenuated in WT MATN3 chondroprogenitors, whereas its expression was elevated in chondroprogenitors expressing the MED or SEMD mutant MATN3 gene suggesting that these mutations inhibit chondrogenesis but promote hypertrophy. TGF-β treatment failed to rescue chondrogenesis markers but dramatically increased collagen X mRNA expression in mutant MATN3 expressing chondroprogenitors. Synovium derived mesenchymal stem cells harboring the SEMD mutation exhibited lower glycosaminoglycan content than those of WT MATN3 in response to TGF-β. Our results suggest that the properties of progenitor cells harboring MATN3 chondrodysplasia mutations were altered, as evidenced by attenuated chondrogenesis and premature hypertrophy. TGF-β treatment failed to completely rescue chondrogenesis but instead induced hypertrophy in mutant MATN3 chondroprogenitors. Our data suggest that chondroprogenitor cells should be considered as a potential target of chondrodysplasia therapy. PMID:25196597

  12. Chondroblastoma of the Clivus: Case Report and Review.

    PubMed

    Liu, Jonathan; Ahmadpour, Arjang; Bewley, Arnaud F; Lechpammer, Mirna; Bobinski, Matthew; Shahlaie, Kiarash

    2015-11-01

    Background and Importance Chondroblastoma is a benign primary bone tumor that typically develops in the epiphyses of long bones. Chondroblastoma of the craniofacial skeleton is extremely rare, with most cases occurring in the squamosal portion of the temporal bone. In this report, we describe the first case of chondroblastoma of the clivus presenting with cranial neuropathy that was treated with endoscopic endonasal resection. We review the literature on craniofacial chondroblastomas with particular emphasis on extratemporal lesions. Case Presentation A 27-year-old woman presented with severe headache, left facial dysesthesias, and diplopia. Physical examination revealed hypesthesia in the left maxillary nerve dermatome, and complete left abducens nerve palsy. Imaging demonstrated an expansile intraosseous mass originating in the upper clivus with extension superiorly into the sella turcica and laterally to involve the medial wall of the left cavernous sinus. The tumor was completely resected via an endoscopic endonasal approach, with postoperative improvement in lateral gaze palsy. Histopathology was consistent with chondroblastoma. Conclusion Chondroblastoma is a rare tumor of the craniofacial skeleton that should be included in the differential diagnosis of an osteolytic lesion of the clivus. Complete surgical resection remains the mainstay of treatment. PMID:26623238

  13. [Pathology of the knee in the hemophiliac patient].

    PubMed

    Rodríguez-Merchán, E C

    1994-06-01

    Chronic haemophilic arthropathy of the knee is a debilitating condition that also carries the risk of rapid degeneration of the articular cartilage of the affected joint. The swelling is a combination of haemarthroses, irritative synovial effusions, synovial thickening and actual epiphyseal overgrowth that is the result of chronic hyperemia. In the knee joint the enlarged appearance is accentuated by quadriceps wasting. Replacement of deficient factor remains the cornerstone of management, followed by splinting in the position of function, synoviorthesis and surgical synovectomy (open or arthroscopic). End stage arthropathy of the knee is the most frequent cause of severe pain and disability in haemophiliacs. Our surgical experience may be divided into five categories: synovectomy, ostectomy, hamstring tenotomy, debridement and prosthetic arthroplasty. Over the last 20 years advanced arthropathy of the knee has been approached with a broad spectrum of procedures with varying success and durability. Early treatment and prevention of chronic synovitis and progressive arthropathy is the key. Where end stage arthropathy does occur and is severely disabling, durable, functional reconstruction with minimal risk must be our goal.

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

    PubMed Central

    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

  15. Management of anterior cruciate ligament injuries in skeletally immature individuals.

    PubMed

    Moksnes, Håvard; Engebretsen, Lars; Risberg, May Arna

    2012-03-01

    Anterior cruciate ligament (ACL) injuries in skeletally immature individuals remain a challenge for the child, the parents, orthopaedic surgeons, and physical therapists. The main challenges are the potential risk of recurrent instability, secondary injuries following nonoperative treatment, and the risks involved with surgical treatment due to the vulnerability of the epiphyseal growth plates. We first present the physiological background for considerations that must be made when advising on treatment alternatives for skeletally immature individuals after ACL injury. The implications of continuous musculoskeletal development for treatment decisions are emphasized. No randomized controlled trials have been performed to investigate outcomes of different treatment algorithms. There is no consensus in the literature on clinical treatment decision criteria for whether a skeletally immature child should undergo transphyseal ACL reconstruction, physeal sparing ACL reconstruction, or nonoperative treatment. Additionally, well-described rehabilitation programs designed for either nonoperative treatment or postoperative rehabilitation have not been published. Based on the currently available evidence, we propose a treatment algorithm for the management of ACL injuries in skeletally immature individuals. Finally, we suggest directions for future prospective studies, which should include development of valid and reliable outcome measures and specific rehabilitation programs. PMID:21891880

  16. Retrocalcaneal Bursitis due to Rare Calcaneal Osteochondroma in Adult Male : Excision and Outcome

    PubMed Central

    Kumar, Rupesh; Anjana; Kundan, Meghraj

    2016-01-01

    Introduction: Osteochondroma is the most common benign tumour of the bone and is considered as developmental lesion of the bone. Common site of osteochondroma presentation is around the knee but calcaneal osteochondroma as such is a rare entity. Osteochondromas grow during childhood through adolescence, but usually the growth of osteochondroma ends when the epiphyseal plates close. In an adult, growth of an osteochondroma suggests the diagnosis of a malignant transformation. However, it can also present as pressure symptom in later phase of life. Here, we presented a case of retrocalcaneal bursitis in late phase of life of a male farmer due to late growth of osteochondroma. Case Presentation: We report a case of calcaneal osteochondroma which is an extremely rare site of occurrence with painful swelling of ankle causing limitation of walking in a 58-year-old male. Surgical excision of tumour followed by a histological confirmation reported negative for any malignant changes. Conclusion: There may be chances of osteochondroma being a reason for retrocalcaneal bursitis. It is possible of late detection of benign osteochondromas which show symptomatic growth and pressure effect in skeletally mature patients without malignant transformation. PMID:27703931

  17. 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

  18. 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

  19. Management of Late Onset Perthes: Evaluation of Distraction by External Fixator—5-Year Follow-Up

    PubMed Central

    Srivastava, Rajeshwar N.; Shukla, Prashant; Pushkar, Amit; Ali, Sabir

    2014-01-01

    Background. Hip distraction in Perthes' disease unloads the joint, which negates the harmful effect of the stresses on the articular surfaces, which may promote the sound healing of the area of necrosis. We have examined the effect of arthrodiastasis on the preservation of the femoral head in older children with Perthes' disease. Methods and Materials. Twelve children with age more than 8 years with Perthes' disease of less than one year were treated with hip distraction by a hinged monolateral external fixator. Observation and Results. Mean duration of distraction was 13.9 days. These children were evaluated by clinicoradiological parameters for a mean period of 32.4 months. There was a significant improvement in the range of movements and mean epiphyseal index, but the change in the percentage of uncovered head femur was insignificant. There was significant improvement in Harris Hip score. Conclusions. Hip distraction by hinged monolateral external fixator seems to be a valid treatment option in cases with Perthes' disease in the selected group of patients, where poor results are expected from conventional treatment. PMID:25580302

  20. Genetic mapping of a locus for multiple ephiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene

    SciTech Connect

    Briggs, M.D.; Choi, HiChang; Warman, M.L.; Loughlin, J.A.; Wordsworth, P.; Sykes, B.C.; Irven, C.M.M.; Smith, M.; Wynne-Davies, R.; Lipson, M.H.

    1994-10-01

    Multiple epiphyseal dysplasia (MED) is a dominantly inherited chondrodysplasia characterized by mild short stature and early-onset osteoarthrosis. Some forms of MED clinically resemble another chondrodysplasia phenotype, the mild form of pseudoachondroplasia (PSACH). On the basis of their clinical similarities as well as similar ultra-structural and biochemical features in cartilage from some patients, it has been proposed that MED and PSACH belong to a single bone-dysplasia family. Recently, both mild and severe PSACH as well as a form of MED have been linked to the same interval on chromosome 19, suggesting that they may be allelic disorders. Linkage studies with the chromosome 19 markers were carried out in a large family with MED and excluded the previously identified interval. Using this family, we have identified a MED locus on the short arm of chromosome 1, in a region containing the gene (COL9A2) that encodes the {alpha}2 chain of type IX collagen, a structural component of the cartilage extracellular matrix. 39 refs., 3 figs., 3 tabs.

  1. The identification of exons from the MED/PSACH region of human chromosome 19

    SciTech Connect

    Li, Quan-Yi; Brook, J.D.; Lennon, G.G.

    1996-03-01

    We have used exon amplification to identify putative transcribed sequences from an 823-kb contig consisting of 28 cosmids that form a minimum tiling path from the interval 19p12-p13.1. This region contains the genes responsible for multiple epiphyseal dysplasia (MED) and pseudoachondroplasia (PSACH). We have trapped 66 exons (an average of 2.4 exons per cosmid) from pools of 2 or 3 cosmids. The majority of exons (51.5%) show only weak similarity or no similarity (36.3%) to sequences in current databases. Six of 8 exons examined from these groups, however, show cross-species sequence conservation, indicating that many of them probably represent authentic exons. Eight exons show identity or significant similarity to ESTs or known genes, including the human TNF receptor 3{prime}-flanking region gene, human epoxide hydrolase (EPHX), human growth/differentiation factor (GOF-1), human myocyte-specific enhancer factor 2, the rat neurocan gene, and the human cartilage oligomeric matrix protein gene (COMP). Mutations in this latter gene have recently been shown to be responsible for MED and PSACH. 33 refs., 4 figs., 2 tabs.

  2. 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

  3. Bilateral Total Knee Arthroplasty in a 15 Year Old With Skeletal Dysplasia and Open Physes.

    PubMed

    Ho, Jason C; Siqueira, Marcelo B P; Jacob, Paul; Goodwin, Ryan C; Barsoum, Wael K

    2016-05-01

    There are limited reports of total knee arthroplasty (TKA) in the pediatric population. The use of constrained, stemmed components is particularly unusual in the setting of open physes due to concerns with growth arrest and implant survivorship. The current authors describe a 15-year-old boy with open growth plates and an epiphyseal dysplasia-like condition affecting the knees bilaterally. He had no other significant medical or orthopedic conditions and his genetic workup was negative. He had severe knee pain and a bilateral 40° valgus with severe lateral compartment arthritis. Conservative treatment provided no symptom relief, and the patient had been wheelchair bound for 18 months prior to presentation. Treatment with simultaneous bilateral TKA using cemented, stemmed, and constrained components was undertaken. There were no intraoperative complications, and his final follow-up was at 5.6 years postoperatively. Radiographic evaluation at follow-up showed that components were well placed with no loosening. The patient had pain-free motion and a perfect Knee injury and Osteoarthritis Outcome Score. Based on the review of the literature and the outcomes of this case, the authors believe simultaneous bilateral TKA using cemented, stemmed, and constrained components is a reasonable option for joint reconstruction in the pediatric patient with open physes who also has significant arthritis and deformity not of oncologic origin. [Orthopedics. 2016; 39(3):e549-e552.]. PMID:27045485

  4. Sex Assessment Using the Femur and Tibia in Medieval Skeletal Remains from Ireland: Discriminant Function Analysis.

    PubMed

    Novak, Mario

    2016-04-01

    Sex determination based on discriminant function analysis of skeletal measurements is probably the most effective method for assessment of sex in archaeological and contemporary populations due to various reasons, but it also suffers from limitations such as population specificity. In this paper standards for sex assessment from the femur and tibia in the medieval Irish population are presented. Six femoral and six tibial measurements obtained from 56 male and 45 female skeletons were subjected to discriminant function analysis. Average accuracies obtained by this study range between 87.1 and 97%. The highest level of accuracy (97%) was achieved when using combined variables of the femur and tibia (maximum diameter of femoral head and circumference at tibial nutrient foramen), as well as two variables of the tibia (proximal epiphyseal breadth and circumference at nutrient foramen). Discriminant functions using a single variable provided accuracies between 87.1 and 96% with the circumference at the level of the tibial nutrient foramen providing the best separation. High accuracy rates obtained by this research correspond to the data recorded in other studies thus confirming the importance of discriminant function analysis in assessment of sex in both archaeological and forensic contexts. PMID:27301232

  5. 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

  6. The Transcription Factor Hand1 Is Involved In Runx2-Ihh-Regulated Endochondral Ossification

    PubMed Central

    Laurie, Lindsay E.; Kokubo, Hiroki; Nakamura, Masataka; Saga, Yumiko; Funato, Noriko

    2016-01-01

    The developing long bone is a model of endochondral ossification that displays the morphological layers of chondrocytes toward the ossification center of the diaphysis. Indian hedgehog (Ihh), a member of the hedgehog family of secreted molecules, regulates chondrocyte proliferation and differentiation, as well as osteoblast differentiation, through the process of endochondral ossification. Here, we report that the basic helix-loop-helix transcription factor Hand1, which is expressed in the cartilage primordia, is involved in proper osteogenesis of the bone collar via its control of Ihh production. Genetic overexpression of Hand1 in the osteochondral progenitors resulted in prenatal hypoplastic or aplastic ossification in the diaphyses, mimicking an Ihh loss-of-function phenotype. Ihh expression was downregulated in femur epiphyses of Hand1-overexpressing mice. We also confirmed that Hand1 downregulated Ihh gene expression in vitro by inhibiting Runx2 transactivation of the Ihh proximal promoter. These results demonstrate that Hand1 in chondrocytes regulates endochondral ossification, at least in part through the Runx2-Ihh axis. PMID:26918743

  7. The Transcription Factor Hand1 Is Involved In Runx2-Ihh-Regulated Endochondral Ossification.

    PubMed

    Laurie, Lindsay E; Kokubo, Hiroki; Nakamura, Masataka; Saga, Yumiko; Funato, Noriko

    2016-01-01

    The developing long bone is a model of endochondral ossification that displays the morphological layers of chondrocytes toward the ossification center of the diaphysis. Indian hedgehog (Ihh), a member of the hedgehog family of secreted molecules, regulates chondrocyte proliferation and differentiation, as well as osteoblast differentiation, through the process of endochondral ossification. Here, we report that the basic helix-loop-helix transcription factor Hand1, which is expressed in the cartilage primordia, is involved in proper osteogenesis of the bone collar via its control of Ihh production. Genetic overexpression of Hand1 in the osteochondral progenitors resulted in prenatal hypoplastic or aplastic ossification in the diaphyses, mimicking an Ihh loss-of-function phenotype. Ihh expression was downregulated in femur epiphyses of Hand1-overexpressing mice. We also confirmed that Hand1 downregulated Ihh gene expression in vitro by inhibiting Runx2 transactivation of the Ihh proximal promoter. These results demonstrate that Hand1 in chondrocytes regulates endochondral ossification, at least in part through the Runx2-Ihh axis.

  8. [Biomaterials for bone filling: comparisons between autograft, hydroxyapatite and one highly purified bovine xenograft].

    PubMed

    Chappard, D; Zhioua, A; Grizon, F; Basle, M F; Rebel, A

    1993-12-01

    Bone grafts are becoming increasingly common in orthopaedics, neurosurgery and periodontology. Twenty one New Zealand rabbits were used in the present study comparing several materials usable as bone substitutes. A 4.5 mm hole was drilled in the inner femoral condyles. Holes were filled with either an autograft (from the opposite condyle), an hydroxylapatite (Bioapatite), or a highly purified bovine xenograft (T650 Lubboc). Animals were sacrificed at 1, 3 and 6 months post implantation and a quantitative analysis of newly-formed bone volume (BNF/IV) and remaining biomaterials (BMAT/IV) was done. In addition, some holes were left unfilled and served as controls. At 6 months, there was no tendency for spontaneous repair in the control animals. The autografted animals have repaired their trabecular mass and architecture within the first month. Hydroxylapatite appeared unresorbed at six months and only thin and scanty new trabeculae were observed. The xenograft induced woven bone trabeculae formation on the first month. This was associated with resorption of the material by two multinucleated cell populations. At six months, the epiphyseal architecture was restored and the biomaterial has disappeared in most cases. Xenografts appear a promising alternative to autografts and allografts, whose infectious risks and ethical problems should always be borne in mind.

  9. Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia.

    PubMed

    Simon, Marleen; Campos-Xavier, Ana Belinda; Mittaz-Crettol, Lauréane; Valadares, Eugenia Ribeiro; Carvalho, Daniel; Speck-Martins, Carlos Eduardo; Nampoothiri, Sheela; Alanay, Yasemin; Mihci, Ercan; van Bever, Yolande; Garcia-Segarra, Nuria; Cavalcanti, Denise; Mortier, Geert; Bonafé, Luisa; Superti-Furga, Andrea

    2012-08-15

    Spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD; OMIM 613330) is a dysostosis/dysplasia caused by recessive mutations in the homeobox-containing gene, NKX3-2 (formerly known as BAPX1). Because of the rarity of the condition, its diagnostic features and natural course are not well known. We describe clinical and radiographic findings in six patients (five of which with homozygous mutations in the NKX3-2 gene) and highlight the unusual and severe changes in the cervical spine and the neurologic complications. In individuals with SMMD, the trunk and the neck are short, while the limbs, fingers and toes are disproportionately long. Radiographs show a severe ossification delay of the vertebral bodies with sagittal and coronal clefts, missing ossification of the pubic bones, large round "balloon-like" epiphyses of the long bones, and presence of multiple pseudoepiphyses at all metacarpals and phalanges. Reduced or absent ossification of the cervical vertebrae leads to cervical instability with anterior or posterior kinking of the cervical spine (swan neck-like deformity, kyknodysostosis). As a result of the cervical spine instability or deformation, five of six patients in our series suffered cervical cord injury that manifested clinically as limb spasticity. Although the number of individuals observed is small, the high incidence of cervical spine deformation in SMMD is unique among skeletal dysplasias. Early diagnosis of SMMD by recognition of the radiographic pattern might prevent of the neurologic complications via prophylactic cervical spine stabilization. PMID:22791571

  10. Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.

    PubMed

    Dwyer, Ellen; Hyland, James; Modaff, Peggy; Pauli, Richard M

    2010-12-01

    Mutations in diastrophic dysplasia sulfate transporter (DTDST) cause a spectrum of autosomal recessive chondrodysplasias. In decreasing order of severity, they include processes designated as achondrogenesis type IB (ACG-1B), atelosteogenesis type II (AO2), diastrophic dysplasia (DTD), diastrophic dysplasia variant (DTDv), and recessively inherited multiple epiphyseal dysplasia (rMED). This is the first report of an extended family with unequivocally distinct phenotypes on the DTDST spectrum. Two siblings have DTDv and their first cousin had AO2. They all share the common Finnish mutation (IVS1 + 2C>T). The two patients with DTDv have the previously reported R279W extracellular domain missense mutation. The second mutation in the patient with AO2 is c.172delA, a deletion of one nucleotide causing a previously unreported frameshift mutation. This is the first published case of an individual with a frameshift mutation combined with the Finnish mutation. These three patients provide an opportunity, in concert with a review of previous literature, to further examine the genotype-phenotype correlation of DTDST. Analysis suggests that, while the DTDST family of disorders contains at least seven different conditions, mutations in the DTDST gene, in fact, appear to cause a phenotypic continuum. Furthermore, DTDST genotype alone is an imperfect predictor of clinical severity along this continuum. PMID:21077202

  11. In vitro proteoglycan sulfation derived from sulfhydryl compounds in sulfate transporter chondrodysplasias.

    PubMed

    Rossi, Antonio; Cetta, Giuseppe; Piazza, Rocco; Bonaventure, Jacky; Steinmann, Beat; Supereti-Furga, Andrea

    2003-01-01

    Mutations in a sulfate-chloride antiporter gene, the diastrophic dysplasia sulfate transporter (DTDST), have been associated with a family of skeletal dysplasias including recessive multiple epiphyseal dysplasia, diastrophic dysplasia (DTD), atelosteogenesis type 2, and achondrogenesis type 1B (ACG1B). DTDST function is crucial for uptake of extracellular sulfate required for proteoglycan (PG) sulfation; the tissue-specific expression of the clinical phenotype may be the consequence of the high rate of PG synthesis in chondrocytes and the ensuing high sulfate requirement. We have studied the contribution of cysteine and its derivatives to PG sulfation in fibroblast and chondrocyte cultures from sulfate transporter dysplasia patients. Incubation of ACG1B fibroblasts in medium containing different concentrations of cystine indicated partial recovery of PG sulfation as measured by HPLC disaccharide analysis of chondroitin sulfate PGs; similar results were observed after incubation with N-acetylcysteine. When both compounds were tested in primary chondrocytes from a DTD patient, partial rescue of PG sulfation was observed, suggesting that the metabolic pathways producing cytoplasmic sulfate from thiols are also active in this cell type. PMID:14692227

  12. Pathogenetics of the human SLC26 transporters.

    PubMed

    Dawson, P A; Markovich, D

    2005-01-01

    Over the past decade, 11 human genes belonging to the solute linked carrier (SLC) 26 family of transporters, have been identified. The SLC26 proteins, which include SAT-1, DTDST, DRA/CLD, pendrin, prestin, PAT-1/CFEX and Tat-1, are structurally related and have been shown to transport one or more of the following substrates: sulfate, chloride, bicarbonate, iodide, oxalate, formate, hydroxyl or fructose. Special interest has focused on four members of the SLC26 family that are associated with distinct recessive diseases: (i) Mutations in SLC26A2 lead to four different chondrodysplasias (diastrophic dysplasia, atelosteogenesis type II, achondrogenesis type IB and multiple epiphyseal dysplasia); (ii) SLC26A3 is associated with congenital chloride diarrhea; (iii) SLC26A4 is associated with Pendred syndrome and non-syndromic deafness, DFNB4; and (iv) SLC26A5 is defective in non-syndromic hearing impairment. This review article summarizes current information on the pathophysiological consequences of mutations in the human SLC26A2 to A5 genes. PMID:15720248

  13. Identification of a novel COL2A1 mutation (c.1744G>A) in a Japanese family: a case report

    PubMed Central

    2014-01-01

    Introduction Mutations in the gene encoding the type II collagen gene (COL2A1) have been found to affect the entire skeletal system. Recently, inheritable skeletal dysplasia caused by novel COL2A1 mutations has been linked to an inherited disease of the hip joint that neither involves the entire skeletal system nor is characterized by the presence of concomitant disorders, such as spinal or ocular abnormalities. Case presentation A 27-year-old Japanese woman previously diagnosed with avasucular necrosis (AVN) of the femoral head on the basis of radiological findings was referred to the study site for surgical management of a painful hip joint. She had no history of disease but suffered from bilateral hip joint lesions. Analysis of her pedigree revealed that bilateral hip joint lesions affected more than three generations of her family. Based on these findings, haplotype analysis of her and her family members was performed by examining select candidate genes from the critical interval for epiphyseal dysplasia of the femoral head on 12q13 and sequencing the promoter and exonic regions of COL2A1. Conclusion A novel COL2A1 mutation (c.1744G>A) was identified within one Japanese family. PMID:25124518

  14. Congenital generalised bone dysplasias: a clinical, radiological, and epidemiological survey.

    PubMed

    Andersen, P E; Hauge, M

    1989-01-01

    The point prevalence at birth of generalised bone dysplasias was estimated by a study of all children born between 1 January 1970 and 31 December 1983 in the county of Fyn (Denmark). Additionally the population prevalence on 31 December 1983 of all patients with generalised bone dysplasias in this county was determined. The county is a well defined, representative subregion of Denmark which demographically comprises a cross section of about 9% of the Danish population. In total, bone dysplasias were found to be more frequent than generally assumed. Achondroplasia was, however, less common with a point prevalence at birth of 1.3 per 100,000, while osteogenesis imperfecta (21.8), multiple epiphyseal dysplasia tarda (9.0), achondrogenesis (6.4), osteopetrosis (5.1), and thanatophoric dysplasia (3.8) were found more frequently. It is striking how many bone dysplasias are still erroneously classified as achondroplasia. Correct diagnosis is important for a valid prognosis, for treatment, and for genetic counselling. The diagnosis relies almost exclusively on the radiographical findings. PMID:2783977

  15. Sulfate in fetal development.

    PubMed

    Dawson, Paul A

    2011-08-01

    Sulfate (SO(4)(2-)) is an important nutrient for human growth and development, and is obtained from the diet and the intra-cellular metabolism of sulfur-containing amino acids, including methionine and cysteine. During pregnancy, fetal tissues have a limited capacity to produce sulfate, and rely on sulfate obtained from the maternal circulation. Sulfate enters and exits placental and fetal cells via transporters on the plasma membrane, which maintain a sufficient intracellular supply of sulfate and its universal sulfonate donor 3'-phosphoadenosine 5'-phosphosulfate (PAPS) for sulfate conjugation (sulfonation) reactions to function effectively. Sulfotransferases mediate sulfonation of numerous endogenous compounds, including proteins and steroids, which biotransforms their biological activities. In addition, sulfonation of proteoglycans is important for maintaining normal structure and development of tissues, as shown for reduced sulfonation of cartilage proteoglycans that leads to developmental dwarfism disorders and four different osteochondrodysplasias (diastrophic dysplasia, atelosteogenesis type II, achondrogenesis type IB and multiple epiphyseal dysplasia). The removal of sulfate via sulfatases is an important step in proteoglycan degradation, and defects in several sulfatases are linked to perturbed fetal bone development, including mesomelia-synostoses syndrome and chondrodysplasia punctata 1. In recent years, interest in sulfate and its role in developmental biology has expanded following the characterisation of sulfate transporters, sulfotransferases and sulfatases and their involvement in fetal growth. This review will focus on the physiological roles of sulfate in fetal development, with links to human and animal pathophysiologies. PMID:21419855

  16. A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia.

    PubMed

    Maeda, Koichi; Miyamoto, Yoshinari; Sawai, Hideaki; Karniski, Lawrence P; Nakashima, Eiji; Nishimura, Gen; Ikegawa, Shiro

    2006-06-01

    Diastrophic dysplasia sulfate transporter (DTDST) is a sulfate transporter required for the synthesis of sulfated proteoglycans in the cartilage. Over 30 mutations have been described in the DTDST gene, which result in a continuous clinical spectrum of recessively inherited chondrodysplasias, including, in order of increasing severity, a recessive form of multiple epiphyseal dysplasia (rMED), diastrophic dysplasia (DTD), atelosteogenesis type II (AO-II) and achondrogenesis 1B (ACG-1B). Correlation between disease severity and residual sulfate transport activity has been reported. Here we report a patient with DTDST mutations, whose manifestations fell in a range between AO-II and DTD. The patient was a compound heterozygote for the recurrent c.835C>T (p.R279W) and novel c.1987G>A (p.G663R) mutations. Immunocytochemical analysis in HEK293 cells showed that the p.G663R mutation was localized within the cytoplasm, and not to the cell membrane, suggesting p.G663R is a loss-of-function mutation. Our case supports the previously described correlation between the severity of the phenotype and the putative level of residual transport function. PMID:16642506

  17. SLC26A2 (diastrophic dysplasia sulfate transporter) is expressed in developing and mature cartilage but also in other tissues and cell types.

    PubMed

    Haila, S; Hästbacka, J; Böhling, T; Karjalainen-Lindsberg, M L; Kere, J; Saarialho-Kere, U

    2001-08-01

    Mutated alleles of the SLC26A2 (diastrophic dysplasia sulfate transporter or DTDST) gene cause each of the four recessive chondrodysplasias, i.e., diastrophic dysplasia (DTD), multiple epiphyseal dysplasia (MED), atelosteogenesis Type II (AO2), and achondrogenesis Type IB (ACG1B). SLC26A2 acts as an Na(+)-independent sulfate/chloride antiporter and belongs to the SLC26 anion transporter gene family, currently consisting of six homologous human members. Although Northern analysis has indicated some expression in all tissues studied, the only tissue known to be affected by SLC26A2 mutations is cartilage. Abundant SLC26A2 expression has previously been detected in normal human colon by in situ hybridization. We have used in situ hybridization and immunohistochemistry to examine multiple normal tissues for the expression of human SLC26A2. As expected, a strong signal for SLC26A2 mRNA and protein immunostaining were detected in developing fetal hyaline cartilage, while bronchial cartilage showed mRNA expression in adult tissues. SLC26A2 expression could also be detected in eccrine sweat glands, in bronchial glands, and in placental villi. In addition, immunoreactivity for the SLC26A2 protein was observed in exocrine pancreas. Our results suggest a more limited expression pattern for SLC26A2 than that found by Northern analysis. However, SLC26A2 expression is also detected in tissues not affected in chondrodysplasias caused by SLC26A2 mutations. PMID:11457925

  18. Achondrogenesis type IB: agenesis of cartilage interterritorial matrix as the link between gene defect and pathological skeletal phenotype.

    PubMed

    Corsi, A; Riminucci, M; Fisher, L W; Bianco, P

    2001-10-01

    Achondrogenesis type IB is a lethal osteochondrodysplasia caused by mutations in the diastrophic dysplasia sulfate transporter gene. How these mutations lead to the skeletal phenotype is not known. Histology of plastic-embedded skeletal fetal achondrogenesis type IB samples suggested that interterritorial epiphyseal cartilage matrix was selectively missing. Cartilage was organized in "chondrons" separated by cleft spaces; chondrocyte seriation, longitudinal septa, and, in turn, mineralized cartilaginous septa were absent. Agenesis of interterritorial matrix as the key histologic change was confirmed by immunohistology using specific markers of territorial and interterritorial matrix. Biglycan-enriched territorial matrix was preserved; decorin-enriched interterritorial areas were absent, although immunostaining was observed within chondrocytes. Thus, in achondrogenesis type IB: (1) a complex derangement in cartilage matrix assembly lies downstream of the deficient sulfate transporter activity; (2) the severely impaired decorin deposition participates in the changes in matrix organization with lack of development of normal interterritorial matrix; and (3) this change determines the lack of the necessary structural substrate for proper endochondral bone formation and explains the severe skeletal phenotype. PMID:11570921

  19. Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.

    PubMed

    Barbosa, M; Sousa, A B; Medeira, A; Lourenço, T; Saraiva, J; Pinto-Basto, J; Soares, G; Fortuna, A M; Superti-Furga, A; Mittaz, L; Reis-Lima, M; Bonafé, L

    2011-12-01

    SLC26A2-related dysplasias encompass a spectrum of diseases: from lethal achondrogenesis type 1B (ACG1B; MIM #600972) and atelosteogenesis type 2 (AO2; MIM #256050) to classical diastrophic dysplasia (cDTD; MIM #222600) and recessive multiple epiphyseal dysplasia (rMED; MIM #226900). This study aimed at characterizing clinically, radiologically and molecularly 14 patients affected by non-lethal SLC26A2-related dysplasias and at evaluating genotype-phenotype correlation. Phenotypically, eight patients were classified as cDTD, four patients as rMED and two patients had an intermediate phenotype (mild DTD - mDTD, previously 'DTD variant'). The Arg279Trp mutation was present in all patients, either in homozygosity (resulting in rMED) or in compound heterozygosity with the known severe alleles Arg178Ter or Asn425Asp (resulting in DTD) or with the mutation c.727-1G>C (causing mDTD). The 'Finnish mutation', c.-26+2T>C, and the p.Cys653Ser, both frequent mutations in non-Portuguese populations, were not identified in any of the patients of our cohort and are probably very rare in the Portuguese population. A targeted mutation analysis for p.Arg279Trp and p.Arg178Ter in the Portuguese population allows the identification of approximately 90% of the pathogenic alleles. PMID:21155763

  20. Insights from a transgenic mouse model on the role of SLC26A2 in health and disease.

    PubMed

    Forlino, Antonella; Gualeni, Benedetta; Pecora, Fabio; Della Torre, Sara; Piazza, Rocco; Tiveron, Cecilia; Tatangelo, Laura; Superti-Furga, Andrea; Cetta, Giuseppe; Rossi, Antonio

    2006-01-01

    Mutations in the SLC26A2 cause a family of recessive chondrodysplasias that includes in order of decreasing severity achondrogenesis 1B, atelosteogenesis 2, diastrophic dysplasia and recessive multiple epiphyseal dysplasia. The gene encodes for a widely distributed sulfate/chloride antiporter of the cell membrane whose function is crucial for the uptake of inorganic sulfate that is needed for proteoglycan sulfation. To investigate the mechanisms leading to skeletal dysplasia, we generated a transgenic mouse with a mutation in Slc26a2 causing a partial loss of function of the sulfate transporter. Homozygous mutant mice were characterized by skeletal dysplasia with chondrocytes of irregular size, delay in the formation of the secondary ossification centre and osteoporosis of long bones. Impaired sulfate uptake was demonstrated in chondrocytes, osteoblasts and fibroblasts, but proteoglycan undersulfation was detected only in cartilage. The similarity with human diastrophic dysplasia makes this mouse a model to explore pathogenetic and therapeutic aspects of SLC26A2-related disorders. PMID:17120769

  1. Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation.

    PubMed

    Macías-Gómez, Nelly Margarita; Mégarbané, André; Leal-Ugarte, Evelia; Rodríguez-Rojas, Lisa Ximena; Barros-Núñez, Patricio

    2004-08-30

    The osteochondrodysplasias represent a heterogeneous group of cartilage and bone diseases. Among these, achondrogenesis 1B, atelosteogenesis type II, diastrophic dysplasia, and autosomal recessive multiple epiphyseal dysplasia are caused by mutations in the solute carrier family 26 (sulfate transporter), member 2 gene (SLC26A2). This group of osteochondrodysplasias shows a continuous spectrum of clinical variability and shares many features in common. Usually, it is difficult to distinguish clinically among these patients. To date, several efforts have been made to correlate mutations in the SLC26A2 gene with phenotypic severity in the patients. We report on a Mexican girl with diastrophic dysplasia presenting some unusual clinical and radiographic features that are usually observed in atelosteogenesis type II. Molecular analysis of the SLC26A2 gene in this patient showed compound heterozygosity for the R178X and R279W mutations. In this patient, the combination of a mild and a severe mutation has apparently led to an intermediate or transitional clinical picture, showing an apparent genotype-phenotype correlation. PMID:15316973

  2. New X linked spondyloepimetaphyseal dysplasia: report on eight affected males in the same family.

    PubMed Central

    Camera, G; Stella, G; Camera, A

    1994-01-01

    We report on a probably new form of spondyloepimetaphyseal dysplasia (SEMD) with an X linked inheritance pattern. Eight males were affected in the same family. We were able to examine three adult patients and we studied the skeletal radiological aspect of one of these patients at 2 years 6 months and at 9 years of age. The main clinical features are severe short trunked dwarfism, brachydactyly, normal facies, and normal intelligence. Radiologically, the diaphyses of all the long bones are short and broad. The epiphyses of the distal portion of the femora and those of the proximal and distal portions of the tibia are embedded in their metaphyses and there is marked narrowing of the intercondylar groove. There is moderate platyspondyly. Several vertebrae show an anterior tongue in infancy and severe irregularities of the upper and lower surfaces are present in adulthood. The 11th or 12th thoracic vertebra is wedge shaped. The pelvis is narrow. The distal ulnae and fibulae are disproportionately long. The hands show radial deviation and brachydactyly is present in the hands and feet. This X linked SEMD was not detectable at birth. Images PMID:8064814

  3. Multiple bilateral lower limb fractures in a 2-year-old child: previously unreported injury with a unique mechanism.

    PubMed

    Repswal, Basant; Jain, Anuj; Gupta, Sunil; Aggarwal, Aditya; Kohli, Tushar; Pathrot, Devendra

    2014-01-01

    Fall from height is a common cause of unintentional injuries in children and accounts for 6% of all trauma-related childhood deaths, usually from head injury. We report a case of a 2-year-old child with multiple fractures of the bilateral lower limbs due to this reason. A child fell from a height of around 15 feet after toppling from a balcony. He developed multiple fractures involving the right femoral shaft, right distal femoral epiphysis (Salter Harris type 2), right distal metaphysis of the tibia and fibula, and undisplaced Salter Harris type 2 epiphyseal injury of the left distal tibia. There were no head, abdominal or spinal injuries. The patient was taken into emergency operation theatre after initial management which consisted of intravenous fluids, blood transfusion, and splintage of both lower limbs. Fracture of the femoral shaft was treated by closed reduction and fixation using two titanium elastic nails. Distal femoral physeal injury required open reduction and fixation with K wires. Distal tibia fractures were closely reduced and managed nonoperatively in both the lower limbs. All the fractures united in four weeks. At the last follow-up, the child had no disability and was able to perform daily activities comfortably. We also proposed the unique mechanism of injury in this report. PMID:25293902

  4. Skeletal manifestations of scurvy: a case report from dubai.

    PubMed

    Noordin, Shahryar; Baloch, Naveed; Salat, Muhammad Sohail; Rashid Memon, Abdul; Ahmad, Tashfeen

    2012-01-01

    Introduction. Nutritional deficiencies are rarely reported in developed countries. We report a child of Pakistani origin brought up in Dubai who developed skeletal manifestations of scurvy due to peculiar dietary habits. Case Presentation. A 4.5 year old boy presented with pain and swelling of multiple joints for three months and inability to walk for two months. Dietary history was significant for exclusive meat intake for the preceding two years. On examination the child's height and weight were below the 5th percentile for his age. He was pale and tachycardic. There was significant swelling and tenderness over the wrist, knee and ankle joints, along with painful restriction of motion. Basic blood workup was unremarkable except for anemia. However, X-rays showed delayed bone age, severe osteopenia of the long bones, epiphyseal separation, cortical thinning and dense zone of provisional calcification, suggesting a radiological diagnosis of scurvy. The child was started on vitamin C replacement therapy. Over the following two months, the pain and swelling substantially reduced and the child became able to walk. Repeat X-rays showed improvement in the bony abnormalities. Conclusion. Although scurvy is not a very commonly encountered entity in the modern era, inappropriate dietary intake can lead to skeletal abnormalities which may be confused with rickets. A high index of suspicion is thus required for prompt diagnosis of scurvy in patients with bone and joint symptoms. PMID:23259126

  5. 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

  6. 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

  7. 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.

  8. Skeletal development and performance of broilers

    SciTech Connect

    El-Deeb, M.A.

    1989-01-01

    The effect of high dietary copper supplementation has been shown to promote growth rate. The results of the experiments reported herein indicated that copper supplementation of 100 ppm with zinc at the requirement level had no effect on growth rate or bone mineralization. However, when various levels of copper and zinc were added to the diet, significant changes in bone mineralization and liver zinc and copper concentrations occurred. In further studies, the effect of dietary supplementation with vitamin D{sub 3} or its metabolite 1,25(OH){sub 2}D{sub 3} on the incidence of tibial dyschondroplasia and related bone abnormalities in broiler chicks was investigated. The results indicated that feeding 1,25(OH){sub 2}D{sub 3} at 5ug/Kg diet as the sole source of vitamin D{sub 3} steroid was sufficient to maintain a calcium homeostasis in the chicks. The effect of growth hormone (GH) injections on the metabolism of tibial epiphyseal growth plant (EGP) in broiler chicks either genetically susceptible or resistant to tibial dyschondroplasia (HTD and LTD respectively) was investigated. GH injection increased {sup 3}H-thymidine uptake, indicating a direct effect of GH on cell replication in EGP.

  9. 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

  10. INJURY TO THE THROWING ARM. A STUDY OF TRAUMATIC CHANGES IN THE ELBOW JOINTS OF BOY BASEBALL PLAYERS.

    PubMed

    ADAMS, J E

    1965-02-01

    X-ray studies were made of both elbows of 162 boys in the 9 to 14 year age group, divided into three categories: Pitchers, non-pitchers, and a control group who had never played organized baseball. Changes involving the medial epicondylar epiphysis and opposing articular surfaces of the capitulum and head of radius in the throwing arm appeared to be in direct proportion to the amount and type of throwing. The most striking changes were in the arms of pitchers. Some degree of accelerated growth, separation and fragmentation of the medial epicondylar epiphyses was noted in the throwing arm of all 80 pitchers in the study. Five cases of traumatic osteochondritis of the capitulum and head of radius, and one case of juvenile osteochondritis of the head of the radius were also found among the pitchers. Better medical supervision and stress on prevention are needed, especially in the Southern California area where climatic conditions favor prolonged seasons and throwing practice the year around.

  11. The effects of mechanical forces on bones and joints. Experimental study on the rat tail.

    PubMed

    Pazzaglia, U E; Andrini, L; Di Nucci, A

    1997-11-01

    We have used an experimental model employing the bent tail of rats to investigate the effects of mechanical forces on bones and joints. Mechanical strain could be applied to the bones and joints of the tail without direct surgical exposure or the application of pins and wires. The intervertebral disc showed stretched annular lamellae on the convex side, while the annulus fibrosus on the concave side was pinched between the inner corners of the vertebral epiphysis. In young rats with an active growth plate, a transverse fissure appeared at the level of the hypertrophic cell layer or the primary metaphyseal trabecular zone. Metaphyseal and epiphyseal trabeculae on the compressed side were thicker and more dense than those of the distracted part of the vertebra. In growing animals, morphometric analysis of hemiepiphyseal and hemimetaphyseal areas, and the corresponding trabecular bone density, showed significant differences between the compressed and distracted sides. No differences were observed in adult rats. We found no significant differences in osteoclast number between compressed and distracted sides in either age group. Our results provide quantitative evidence of the working of 'Wolff's law'. The differences in trabecular density are examples of remodelling by osteoclasts and osteoblasts; our finding of no significant difference in osteoclast numbers between the hemiepiphyses in the experimental and control groups suggests that the response of living bone to altered strain is mediated by osteoblasts.

  12. Remodelling of bone and bones: effects of altered mechanical stress on caudal vertebrae.

    PubMed

    Storey, E; Feik, S A

    1985-01-01

    Sprague-Dawley rats weighing 50 g were divided into two groups: (i) control, (ii) rats with tails bent in situ incorporating 7, 5 and 3 caudal vertebrae in the loop. Tails were radiographed weekly up to six weeks and a microradiographic and histological study undertaken on selected specimens. Results showed that the bones in the apex of the loop of the bent tail moved through their investing soft tissues towards the outer side of the bend, the joints became V-shaped and in tails bent acutely the epiphyses and metaphyses tilted. By six weeks the bones appeared bent with a thinner straight to convex shaft on the outer side and a thicker, more concave one on the inner side. The changes observed can be explained by taking into account (i) strain within the bone, (ii) altered growth and (iii) the translation of bones through their investing soft tissues. The results are consistent with the supposition that, on application of a continuous moderate stress, tension induces formation and pressure resorption of bone.

  13. Scurvy in pediatric age group - A disease often forgotten?

    PubMed

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

    2015-06-01

    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

  14. Bone age assessment by content-based image retrieval and case-based reasoning

    NASA Astrophysics Data System (ADS)

    Fischer, Benedikt; Welter, Petra; Grouls, Christoph; Günther, Rolf W.; Deserno, Thomas M.

    2011-03-01

    Skeletal maturity is assessed visually by comparing hand radiographs to a standardized reference image atlas. Most common are the methods by Greulich & Pyle and Tanner & Whitehouse. For computer-aided diagnosis (CAD), local image regions of interest (ROI) such as the epiphysis or the carpal areas are extracted and evaluated. Heuristic approaches trying to automatically extract, measure and classify bones and distances between bones suffer from the high variability of biological material and the differences in bone development resulting from age, gender and ethnic origin. Content-based image retrieval (CBIR) provides a robust solution without delineating and measuring bones. In this work, epiphyseal ROIs (eROIS) of a hand radiograph are compared to previous cases with known age, mimicking a human observer. Leaving-one-out experiments are conducted on 1,102 left hand radiographs and 15,428 metacarpal and phalangeal eROIs from the publicly available USC hand atlas. The similarity of the eROIs is assessed by a combination of cross-correlation, image distortion model, and Tamura texture features, yielding a mean error rate of 0.97 years and a variance of below 0.63 years. Furthermore, we introduce a publicly available online-demonstration system, where queries on the USC dataset as well as on uploaded radiographs are performed for instant CAD. In future, we plan to evaluate physician with CBIR-CAD against physician without CBIR-CAD rather than physician vs. CBIR-CAD.

  15. Content-based image retrieval applied to bone age assessment

    NASA Astrophysics Data System (ADS)

    Fischer, Benedikt; Brosig, André; Welter, Petra; Grouls, Christoph; Günther, Rolf W.; Deserno, Thomas M.

    2010-03-01

    Radiological bone age assessment is based on local image regions of interest (ROI), such as the epiphysis or the area of carpal bones. These are compared to a standardized reference and scores determining the skeletal maturity are calculated. For computer-aided diagnosis, automatic ROI extraction and analysis is done so far mainly by heuristic approaches. Due to high variations in the imaged biological material and differences in age, gender and ethnic origin, automatic analysis is difficult and frequently requires manual interactions. On the contrary, epiphyseal regions (eROIs) can be compared to previous cases with known age by content-based image retrieval (CBIR). This requires a sufficient number of cases with reliable positioning of the eROI centers. In this first approach to bone age assessment by CBIR, we conduct leaving-oneout experiments on 1,102 left hand radiographs and 15,428 metacarpal and phalangeal eROIs from the USC hand atlas. The similarity of the eROIs is assessed by cross-correlation of 16x16 scaled eROIs. The effects of the number of eROIs, two age computation methods as well as the number of considered CBIR references are analyzed. The best results yield an error rate of 1.16 years and a standard deviation of 0.85 years. As the appearance of the hand varies naturally by up to two years, these results clearly demonstrate the applicability of the CBIR approach for bone age estimation.

  16. Lower Paleolithic bone tools from the 'Spear Horizon' at Schöningen (Germany).

    PubMed

    Van Kolfschoten, Thijs; Parfitt, Simon A; Serangeli, Jordi; Bello, Silvia M

    2015-12-01

    The Lower Paleolithic locality of Schöningen 13 II-4 is famous for the discovery of wooden spears found amongst the butchered remains of numerous horses and other large herbivores. Although the spears have attracted the most interest, other aspects of the associated artifact assemblage have received less attention. Here we describe an extraordinary assemblage of 88 bone tools from the 'Spear Horizon.' This sample includes numerous long-bone shaft fragments (mostly of horse), three ribs used as 'retouchers' to resharpen flint tools, and a complete horse innominate that was used as an anvil in bipolar knapping. Most of the retouchers were prepared by scraping the diaphysis of fresh and dry long-bones. Technological analysis of the associated lithic assemblage demonstrates exhaustive resharpening to maintain functional cutting edges. Whereas the flint tools were brought to the site, curated, and maintained, the retouchers had a shorter use-history and were either discarded after a limited period or broken to extract marrow. Horse and bison metapodials with flaked and rounded epiphyses are interpreted as hammers used to break marrow bones. Several of the 'metapodial hammers' were additionally used as knapping percussors. These constitute the earliest evidence of multi-purpose bone tools in the archeological record. Our results highlight the advanced knowledge in the use of bones as tools during the Lower Paleolithic, with major implications for understanding aspects of non-lithic technology and planning depth in early hominins.

  17. The humerus of Eusthenopteron: a puzzling organization presaging the establishment of tetrapod limb bone marrow.

    PubMed

    Sanchez, S; Tafforeau, P; Ahlberg, P E

    2014-05-01

    Because of its close relationship to tetrapods, Eusthenopteron is an important taxon for understanding the establishment of the tetrapod body plan. Notably, it is one of the earliest sarcopterygians in which the humerus of the pectoral fin skeleton is preserved. The microanatomical and histological organization of this humerus provides important data for understanding the evolutionary steps that built up the distinctive architecture of tetrapod limb bones. Previous histological studies showed that Eusthenopteron's long-bone organization was established through typical tetrapod ossification modalities. Based on a three-dimensional reconstruction of the inner microstructure of Eusthenopteron's humerus, obtained from propagation phase-contrast X-ray synchrotron microtomography, we are now able to show that, despite ossification mechanisms and growth patterns similar to those of tetrapods, it also retains plesiomorphic characters such as a large medullary cavity, partly resulting from the perichondral ossification around a large cartilaginous bud as in actinopterygians. It also exhibits a distinctive tubular organization of bone-marrow processes. The connection between these processes and epiphyseal structures highlights their close functional relationship, suggesting that either bone marrow played a crucial role in the long-bone elongation processes or that trabecular bone resulting from the erosion of hypertrophied cartilage created a microenvironment for haematopoietic stem cell niches.

  18. Scurvy in pediatric age group - A disease often forgotten?

    PubMed

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

    2015-06-01

    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.

  19. Radiographic features of the limbs of juvenile and subadult loggerhead sea turtles (Caretta caretta)

    PubMed Central

    Valente, Ana Luisa; Marco, Ignasi; Zamora, Maria Angeles; Parga, Maria Luz; Lavín, Santiago; Alegre, Ferran; Cuenca, Rafaela

    2007-01-01

    This study aimed to provide the normal radiographic anatomic appearance of the limbs of the loggerhead sea turtle, Caretta caretta. Dorsopalmar and dorsoplantar radiographs were taken of the forelimbs and hindlimbs of 15 juvenile and 15 subadult loggerhead sea turtles, 17 alive and 13 dead. For comparison, computed tomographic, gross anatomic, osteologic, and histologic studies were performed on the limbs of 5 of the sea turtles. Bones from the distal part of the fore and hind flippers were seen in detail with a mammographic film–screen combination. The pectoral and pelvic girdles, superimposed by the carapace, were better seen on standard radiographs with the use of rare-earth intensifying screens. Mammographic radiographs of the manus of 5 small juvenile turtles showed active growth zones. Visualization of bone contours in the distal part of the limbs was clearer than in mammals owing to the very few superimpositions. The presence of a substantial amount of cartilage in the epiphyses produced better visibility of limb ends. We conclude that use of a mammography film–screen combination is the best way to evaluate the bony and joint structures of the limbs of sea turtles. Radiography provides reliable images for clinical purposes. Considering the low cost and logistics of this technique, it is a practical ancillary test for marine animal rehabilitation centers to use. PMID:17955906

  20. Control of chondroitin sulphate biosynthesis. beta-D-Xylopyranosides as substrates for UDP-galactose: D-xylose transferase from embryonic-chicken cartilage.

    PubMed Central

    Robinson, J A; Robinson, H C

    1981-01-01

    Embryonic-chicken epiphyseal cartilage was incubated in vitro with a variety of beta-xylosides and the amount of [3H]acetate incorporation into chondroitin sulphate was determined under conditions when normal protein core production was inhibited by cycloheximide. The ability of the different beta-xylosides to relieve thea cycloheximide-mediated inhibition of chondroitin sulphate synthesis was influenced by the nature of the aglycan group of te xyloside. beta-Xylosides with apolar and uncharged aglycan groups were most effective and produced a severalfold stimulation of chondroitin sulphate biosynthesis. beta-Xylosides with charged aglycan groups were less effective initiators of chondroitin sulphate synthesis. The rate of galactose transfer from UDP-galactose to each of the beta-xylosides, catalysed by a cell-free microsomal preparation from embryonic cartilage, was measured. This study showed that the nature of the aglycan group of the beta-xyloside was a factor determining the capacity of the xyloside to act as an acceptor for galactosyltransferase I, the enzyme that catalyses the first galactose transfer reaction of chondroitin sulphate synthesis. The aglycan group of the xyloside also appeared to influence other steps leading to chondroitin sulphate chain initiation in vitro. PMID:6796066

  1. [Radiologically determined DMF index variations for forensic age estimation of young adults].

    PubMed

    Andreas, Olze; Mahlow, Andrea; Schmidt, Sven; Geserick, Gunther; Schmeling, Andreas

    2004-01-01

    The eruption and mineralization of third molars are the main criteria for dental age estimation of living people involved in criminal proceedings. Since the development of third molars is usually completed by the age of 19 or 20 years, this feature cannot be used to ascertain whether a person has attained the forensically relevant age of 21 years. This study examined whether the DMFT index or the third molar DFT index could supply reliable information enabling conclusions to be drawn about whether a person has reached the age of 21. To this end, 650 conventional orthopantomograms of German subjects aged 18 to 30 years were evaluated. The DMF index variations considered were found to be unsuitable for determining whether a person is over 21 because they displayed a weak correlation with age and considerable individual scatter. A high indicative value can only be attributed to a third molar DFT index of 4, although this is rarely observed in the relevant age group. An X-ray examination of the medial clavicular epiphyseal cartilage is, therefore, strongly recommended when assessing whether a person has attained 21 years of age.

  2. 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

  3. Recombinant human insulin-like growth factor I stimulates growth and has distinct effects on organ size in hypophysectomized rats.

    PubMed Central

    Guler, H P; Zapf, J; Scheiwiller, E; Froesch, E R

    1988-01-01

    Recombinant human insulin-like growth factor I (rhIGF-I) was infused subcutaneously into hypophysectomized rats for as long as 18 days. Three hundred micrograms (39 nmol) of rhIGF-I per day and 200 milliunits (4.5 nmol) of human growth hormone (hGH) per day increased body weight, tibial epiphyseal width, longitudinal bone growth, and trabecular bone formation similarly. Weight gains of the kidneys and spleen, however, were greater with rhIGF-I than with hGH, whereas the weight of the epididymal fat pads was reduced with rhIGF-I. The weight of the thymus was increased by rhIGF-I treatment. Thus, IGF-I administered over a prolonged period of time mimics GH effects in hypophysectomized rats. Quantitative differences between rhIGF-I and hGH treatment with respect to organ weights may be related to different forms of circulating IGF-I or may be due to independent effects of GH and IGF-I. The results support the somatomedin hypothesis, but they also stress the role of GH as a modulator of IGF-I action. Images PMID:3387445

  4. 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

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

    PubMed

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

    2003-10-01

    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.

  6. Pediatric osteomyelitis and septic arthritis: the pathology of neonatal disease.

    PubMed Central

    Ogden, J. A.

    1979-01-01

    The morphologic and histologic examination of over fifty-five foci of metaphyseal/epiphyseal osteomyelitis and eleven septic joints from five cases of neonatal osteomyelitis and joint sepsis are described in detail. The severity of the bone and joint involvement varied considerably, allowing a better understanding of the pathophysiologic sequence of events in the disease in the neonatal time period. Of particular importance were (1) the multifocal nature of the disease, (2) the highly variable destruction of the growth plate (physis) by several discrete mechanisms, and (3) the invasion of the chondroepiphysis through the cartilage canal systems. Two of the cases died from respiratory complications several months following presumed successful treatment of their skeletal infections. S&pecimens showed significant growth plate damage continuing beyond the neonatal period. These findings support the need for rapid diagnosis and drainage, whenever feasible, to prevent long-term skeletal growth damage. The severity of involvement also should emphasize that this disease, especially in the neonate, is not an innocuous condition, as a recent review suggested. Images FIG. 1 FIG. 2 FIG. 3 FIG. 4 FIG. 5 FIG. 6 FIG. 7 FIG. 8 FIG. 9 FIG. 10 FIG. 11 FIG. 12 FIG. 13 FIG. 14 FIG. 15 FIG. 16 FIG. 17 FIG. 18 FIG. 19 FIG. 20 PMID:524924

  7. Tuberculous dactylitis (spina ventosa) with concomitant ipsilateral axillary scrofuloderma in an immunocompetent child: A rare presentation of skeletal tuberculosis

    PubMed Central

    Bhaskar; Khonglah, Tashi; Bareh, Jerryson

    2013-01-01

    Tuberculous dactylitis is a distinctly uncommon, yet well recognized form of tuberculosis involving the small bones of the hand or foot. It occurs in young children in endemic areas under 5 years of age. Tuberculosis of the short tubular bones like phalanges, metacarpals or metatarsals is quite uncommon beyond 6 years of age, once the epiphyseal centers are well established. The radiographic features of cystic expansion have led to the name “Spina Ventosa” for tuberculous dactylitis of the short bones. Scrofuloderma is a mycobacterial infection affecting children and young adults, representing direct extension of tuberculosis into the skin from underlying structures e.g. lymph nodes. An 8-year-old malnourished girl had multiple axillary ulcers with lymphadenopathy. Tuberculous dactylitis with ipsilateral axillary scrofuloderma was suspected on clinical and radiological grounds. The suspicion was confirmed by histology and bacteriology. The patient responded to antitubercular drugs with progressive healing of the lesions without surgery. Concomitant presence of these dual lesions suggesting active disseminated tuberculosis in immune-competent child over 6 years is very rare and hardly reported. PMID:23977657

  8. 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.

  9. Inhibition of osteoclast activation by phloretin through disturbing αvβ3 integrin-c-Src pathway.

    PubMed

    Lee, Eun-Jung; Kim, Jung-Lye; Gong, Ju-Hyun; Park, Sin-Hye; Kang, Young-Hee

    2015-01-01

    This study was to explore the sequential signaling of disorganization of the actin cytoskeletal architecture by phloretin. RAW 264.7 macrophages were incubated with 1-20 μM phloretin for 5 days in the presence of RANKL. C57BL/6 mice were ovariectomized (OVX) and orally treated with 10 mg/kg phloretin once a day for 8 weeks. Phloretin allayed RANKL stimulated formation of actin podosomes with the concomitant retardation of the vinculin activation. Oral administration of phloretin suppressed the induction of femoral gelsolin and vinculin in OVX mice. The RANK-RANKL interaction resulted in the αvβ3 integrin induction, which was demoted by phloretin. The RANKL induction of actin rings and vacuolar-type H(+)-ATPase entailed Pyk2 phosphorylation and c-Src and c-Cbl induction, all of which were blunted by phloretin. Similar inhibition was also observed in phloretin-exposed OVX mouse femoral bone tissues with decreased trabecular collagen formation. Phloretin suppressed the paxillin induction in RANKL-activated osteoclasts and in OVX epiphyseal bone tissues. Also, phloretin attenuated the Syk phosphorylation and phospholipase Cγ induction by RANKL in osteoclasts. These results suggest that phloretin was an inhibitor of actin podosomes and sealing zone, disrupting αvβ3 integrin-c-Src-Pyk2/Syk signaling pathway for the regulation of actin cytoskeletal organization in osteoclasts. PMID:25834823

  10. 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

  11. EVALUATION OF THE COMPLICATIONS OF SURGICAL TREATMENT OF FRACTURES OF THE PROXIMAL EXTREMITY OF THE HUMERUS USING A LOCKING PLATE

    PubMed Central

    Miyazaki, Alberto Naoki; Estelles, José Renato Depari; Fregoneze, Marcelo; Santos, Pedro Doneux; da Silva, Luciana Andrade; do Val Sella, Guilherme; Ishioka, Fábio Eduardo; Rosa, João Polydoro; Checchia, Sergio Luiz

    2015-01-01

    Objective: To evaluate the complications from surgical treatment using a locking plate among patients with fractures of the proximal extremity of the humerus. Methods: Between July 2004 and December 2009, 56 patients with fractures of the proximal extremity of the humerus were treated using the PHILOS® plate. There were 19 male patients and 37 female patients, with a mean age of 62 years (range: 30 to 92 years). All the cases had a mean postoperative followup period of 12 months. Thirteen fractures were classified as presenting in two parts, 28 as three, eight as four and seven as epiphyseal fractures. Results: Among the patients operated, 26 were considered to have achieved excellent results, twelve good, ten fair and eight poor, according to the UCLA score. Thirty complications occurred in 20 patients (35.7%), among which the most frequent complication was inadequate reduction of the fracture, which occurred in eight cases. Subacromial impact, caused by the plate, occurred in seven cases, while inadequate fixation occurred in six cases. Other complications such as pseudarthrosis, adhesive capsulitis, avascular necrosis, loss of varus reduction and infection were also seen. Conclusion: The functional results from treating fractures of the proximal extremity of the humerus using a locking plate depended on correct anatomical reduction of the fracture and stable fixation of the implant. Complications still occur frequently, particularly because of intraoperative technical difficulty, fracture severity and possible inexperience of the surgeon. PMID:27047867

  12. Autosomal Recessive Disorder Otospondylomegaepiphyseal Dysplasia Is Associated with Loss-of-Function Mutations in the COL11A2 Gene

    PubMed Central

    Melkoniemi, MiiaÂ; Brunner, Han G.Â; Manouvrier, SylvieÂ; Hennekam, RaoulÂ; Superti-Furga, AndreaÂ; Kääriäinen, HelenaÂ; Pauli, Richard M.Â; van Essen, TonÂ; Warman, Matthew L.Â; Bonaventure, JackyÂ; Miny, PeterÂ; Ala-Kokko, LeenaÂ

    2000-01-01

    Summary Otospondylomegaepiphyseal dysplasia (OSMED) is an autosomal recessive skeletal dysplasia accompanied by severe hearing loss. The phenotype overlaps that of the autosomal dominant disorders—Stickler and Marshall syndromes—but can be distinguished by disproportionately short limbs, severe hearing loss, and lack of ocular involvement. In one family with OSMED, a homozygous Gly→Arg substitution has been described in COL11A2, which codes for the α2 chain of type XI collagen. We report seven further families with OSMED. All affected individuals had a remarkably similar phenotype: profound sensorineural hearing loss, skeletal dysplasia with limb shortening and large epiphyses, cleft palate, an extremely flat face, hypoplasia of the mandible, a short nose with anteverted nares, and a flat nasal bridge. We screened affected individuals for mutations in COL11A2 and found different mutations in each family. Individuals from four families, including three with consanguineous parents, were homozygous for mutations. Individuals from three other families, in whom parents were nonconsanguineous, were compound heterozygous. Of the 10 identified mutations, 9 are predicted to cause premature termination of translation, and 1 is predicted to cause an in-frame deletion. We conclude that the OSMED phenotype is highly homogenous and results from homozygosity or compound heterozygosity for COL11A2 mutations, most of which are predicted to cause complete absence of α2(XI) chains. PMID:10677296

  13. A rare case report of Patellar Osteochondroma

    PubMed Central

    Bhatnagar, Abhinav S.; Malhan, Kaushal; Mehta, Sonu

    2015-01-01

    Introduction: Osteochondroma (OC) is the most common benign tumor of the skeleton. However, patellar OC is very rare. Only five case reports have been published yet and only 1 after the year 1972. OCs grow during childhood through adolescence, but usually growing ends when the epiphyseal plates close. In an adult, the growth of an OC suggests the diagnosis of malignant transformation to a chondrosarcoma. However, enlargement of a patellar OC reported as benign after skeletal maturity is present in literature. Case Report: We report the clinical and radiologic findings of a patellar OC in a 50-year-old female, with a 3-year progression of swelling, not painful, well-defined margins, normal skin, and no neurovascular deficits or functional impairment. The tumor was surgically resected, and histopathological examination did not show malignancy. After 2 years of follow-up, the patient has no complaints and no signs of recurrence. Conclusion: Patellar OCsare extremely rare with only a few reports published. It should be kept in mind that benign OCs can show symptomatic growth in skeletally mature patients without malignant transformation. PMID:27299076

  14. A boy with developmental delay, malformations, and evidence of a connective tissue disorder: possibly a new type of cutis laxa.

    PubMed

    Armstrong, Linlea; Jimenez, Carmencita; Hunter, Alasdair G W

    2003-05-15

    We report a 7.5-year-old boy with loose translucent skin, aortic dilatation, hyperextensible veins, recurrent respiratory problems, pectus excavatum, arthralgias, lax joints, mild epiphyseal dysplasia, and umbilical and inguinal hernias. He also has developmental delay, progressive bilateral sensorineural hearing loss, an unusual facial appearance, terminal digit hypoplasia with unusual radiographic changes in some of the phalanges, glandular hypospadias, shawl scrotum, and undescended testes. Biochemical investigations, including electrophoresis of Types 1 and 3 procollagens and collagens, and quantification of serum copper and ceruloplasmin, are normal. Relative to age-matched control patients the electron micrographs of the boy's dermis show elastin fibers to be decreased in number, and abnormal in appearance, with a low matrix to microfibril ratio. The organ distribution of abnormalities and the nature of the findings suggest a connective tissue disorder. We contrast and compare this boy's phenotype to those of the classic connective tissue disorders. We conclude that he has cutis laxa with features that distinguish him from previously described types of cutis laxa.

  15. 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.

  16. Postnatal development of the skull of Dinilysia patagonica (Squamata-stem Serpentes).

    PubMed

    Scanferla, Agustín; Bhullar, Bhart-Anjan S

    2014-03-01

    The snake skull represents a profound transformation of the ancestral squamate cranium in which dermal skull roof bones were integrated with the braincase, in a manner convergent with that which occurred during the origin of mammals. However, the ontogeny of snake characters at the origin of the clade has until now been inaccessible. Here we describe a postnatal ontogenetic series of the Late Cretaceous stem snake Dinilysia patagonica and compare it to that of extant lizards and snakes. Comparative analysis indicates notable ontogenetic changes, including advanced state of ossification, isometric growth of the otic capsule, fusion of the stylohyal to the quadrate, and great posterior elongation of the supratemporal. Of these transformations, the unfused condition of braincase bones and the retention of a large otic capsule in adults are examples of paedomorphic and peramorphic processes, respectively. Some ontogenetic transformations detected, in particular those present in middle ear, skull roof and suspensorium, are strikingly similar to those present in extant snakes. Nevertheless, Dinilysia retains a lizard-like paroccipital process without an epiphyseal extremity, and a calcified epiphysis that caps the sphenoccipital tubercle. Finally, the integration of the dermal skull roof with the braincase is similar to that seen in mammals with regard to the overall closure of the braincase, but the two evolutionary and developmental modules appear less integrated in snakes in that the parietal bone of the dermal skull roof progressively overlaps the supraoccipital of the chondrocranial braincase. PMID:24493375

  17. Developmental plasticity of limb bone microstructural organization in Apateon: histological evidence of paedomorphic conditions in branchiosaurs.

    PubMed

    Sanchez, Sophie; de Ricqlès, Armand; Schoch, Rainer; Steyer, J Sébastien

    2010-01-01

    Apateon, a key genus among Branchiosauridae from the Carboniferous--Permian of Europe, is often considered closely related to salamanders on the basis of developmental similarities, anatomical features, and life history. The current work deals with recognition of heterochronies among three "time-averaged populations" of Apateon based on inference from histological features already studied in extant urodeles. Our study is performed on the long bones of 22 specimens of Apateon pedestris and Apateon caducus. Histological observations show that diaphyseal and epiphyseal ossification patterns of Apateon are similar to those of urodeles. From skeletochronological analysis, the identification of the age of sexual maturity allows us to discriminate juveniles from adults and to confirm the previous hypothesis of a paedomorphic condition based on anatomical data among these species. The current study also suggests a paedomorphic condition of each "population" at the histological level. This heterochrony may have been linked to peculiar ecological conditions such as hypoxic and fresh water environment. Functional reasons may also be invoked to explain differences of ossification between fore- and hindlimbs of the "populations" from Odernheim and Niederkirchen because paleoecological conditions are very different from one locality to another. This study illustrates the role that the acquisition of heterochronic features plays at the microevolutionary scale. PMID:20565542

  18. Patterns of ossification in the manus of the harbor porpoise (Phocoena phocoena): hyperphalangy and delta-shaped bones.

    PubMed

    Dawson, Susan D

    2003-11-01

    With the transition from terrestrial to aquatic habitats, cetacean forelimbs have undergone significant modifications in bone morphology and soft tissue distribution. Some, but not all, of these modifications are also demonstrated in other lineages of extant and extinct secondarily aquatic tetrapods. This study examines the ontogenetic pattern of ossification of the manus of the harbor porpoise (Phocoena phocoena), using plain film radiography. Two modifications examined are hyperphalangy (number of phalanges per digit increased beyond the typical mammalian number) and the morphology of delta-shaped bones. Hyperphalangy in Phocoena phocoena is apparent in digits 2 and 3. Phalangeal counts in all digits are variable (sometimes between the right and left flippers of the same individual) and are not necessarily correlated with age. Phalangeal ossification and epiphyseal fusion proceeds along the proximo-distal axis within each digit. In addition, digits 2 and 3 are at a more advanced stage of ossification than more abaxial digits. Delta-shaped bones appear to be a normal stage in the ossification of phalanges in all digits except the third, and may persist in the adult in certain digits. In humans, this morphology is a developmental anomaly usually associated with other malformations, such as polydactyly or syndactyly. Delta-shaped bones in the cetacean manus display a consistent orientation and the process by which they are formed may be similar to that in extinct marine reptiles. PMID:14518013

  19. Metabolic disease in animals.

    PubMed

    Liu, Si-Kwang

    2002-12-01

    Rickets is a metabolic bone disorder characterized by osteopenic changes resulting from the failure of calcification of the osteoid matrix and absent mineralization of hypertrophic cartilage cells at the epiphyseal growth plates in growing primates, herbivores, swine, carnivores, and birds. The causes of rickets include inadequate dietary provision of calcium, phosphorus, and vitamin D. Osteomalacia in reptiles, simian bone disease in nonhuman primates, and osteodystrophia fibrosa (secondary hyperparathyroidism) or "bran disease" in herbivores are caused by a diet that has a much higher content of phosphorus than calcium, combined with inadequate exposure to direct sunlight. Medullary bone consists of interconnected spicules of bone resembling embryonic bone and is established in relation to the shell formation cycle of laying birds. Hypertrophic osteodystrophy develops in large-breed growing dogs, chickens, and guinea pigs and is possibly caused by vitamin C deficiency. Tibial dyschondroplasia is a defect in endochondral ossification characterized by a widened proximal tibial physis that is not penetrated by metaphyseal vascular sprouts, commonly found in growing broiler chickens, turkeys, and exotic birds. PMID:12541191

  20. Space flight effects on skeletal bones of rats (light and electron microscopic examination).

    PubMed

    Yagodovsky, V S; Triftanidi, L A; Gorokhova, G P

    1976-07-01

    In the light and electron microscopes, long tubular bones of Wistar rats that were flown for 22 d onboard the Cosmos-605 biosatellite and were exposed to a ground-based simulation experiment were examined. About half of the flight rats showed osteoporosis of metaphyses which was usually combined with a decrease of the mass of the primary spongiosa in the vicinity of the epiphyseal cartilaginous plate. This gives evidence that the growth of the bones could have been inhibited in flight. The light and electron microscopy of bones of flight rats revealed wide osteocyte lacunae which could have been produced by perilacunar osteolysis. In the simulation experiment, reduction in the metaphyseal spongiosa occurred only in one-third of the rats and was less pronounced than in flight rats; no decrease of the mass of the primary spongiosa near the cartilaginous plate was noted. Histological investigation of bones 27 d postflight demonstrated that that time period was not enough to eliminate all the changes in the bones tested.

  1. Effects of Balsamodendron mukul Gum Resin Extract on Articular Cartilage in Papain-induced Osteoarthritis.

    PubMed

    Manjhi, Jayanand; Gupta, Maneesh; Sinha, Anvesha; Rawat, Beena; Rai, Durg V

    2016-07-01

    . Outcome Measures • The articular cartilages from the knee joints and epiphyseal bones of the femur and tibia were extracted from the right- and left-side limbs to perform the biochemical, microarchitectural, and histological analyses. Results • The total protein and collagen content of the articular cartilage of the knees were significantly higher in all treated groups when compared with the OA group of rats. The histological analysis revealed a thicker cartilage and a higher trabecular density of the subchondral bone (epiphyseal bone) in BDM-treated rats. Conclusions • The oral dose of BDM gum resin extract was shown to relieve OA pain, regenerate the cartilaginous matrix, and increase the subchondral bone components. On the basis of the findings, the research team suggests that the BDM gum resin extract may be used for therapeutic interventions for reversal of OA and reduction in its related inflammatory pain. PMID:27548493

  2. Descriptions of the lower limb skeleton of Homo floresiensis.

    PubMed

    Jungers, W L; Larson, S G; Harcourt-Smith, W; Morwood, M J; Sutikna, T; Due Awe, Rokhus; Djubiantono, T

    2009-11-01

    Bones of the lower extremity have been recovered for up to nine different individuals of Homo floresiensis - LB1, LB4, LB6, LB8, LB9, LB10, LB11, LB13, and LB14. LB1 is represented by a bony pelvis (damaged but now repaired), femora, tibiae, fibulae, patellae, and numerous foot bones. LB4/2 is an immature right tibia lacking epiphyses. LB6 includes a fragmentary metatarsal and two pedal phalanges. LB8 is a nearly complete right tibia (shorter than that of LB1). LB9 is a fragment of a hominin femoral diaphysis. LB10 is a proximal hallucal phalanx. LB11 includes pelvic fragments and a fragmentary metatarsal. LB13 is a patellar fragment, and LB14 is a fragment of an acetabulum. All skeletal remains recovered from Liang Bua were extremely fragile, and some were badly damaged when they were removed temporarily from Jakarta. At present, virtually all fossil materials have been returned, stabilized, and hardened. These skeletal remains are described and illustrated photographically. The lower limb skeleton exhibits a uniquely mosaic pattern, with many primitive-like morphologies; we have been unable to find this combination of ancient and derived (more human-like) features in either healthy or pathological modern humans, regardless of body size. Bilateral asymmetries are slight in the postcranium, and muscle markings are clearly delineated on all bones. The long bones are robust, and the thickness of their cortices is well within the ranges seen in healthy modern humans. LB1 is most probably a female based on the shape of her greater sciatic notch, and the marked degree of lateral iliac flaring recalls that seen in australopithecines such as "Lucy" (AL 288-1). The metatarsus has a human-like robusticity formula, but the proximal pedal phalanges are relatively long and robust (and slightly curved). The hallux is fully adducted, but we suspect that a medial longitudinal arch was absent. PMID:19062072

  3. Beneath the Minerals, a Layer of Round Lipid Particles Was Identified to Mediate Collagen Calcification in Compact Bone Formation

    PubMed Central

    Xu, Shaohua; Yu, Jianqing J.

    2006-01-01

    Astronauts lose 1–2% of their bone minerals per month during space flights. A systematic search for a countermeasure relies on a good understanding of the mechanism of bone formation at the molecular level. How collagen fibers, the dominant matrix protein in bones, are mineralized remains mysterious. Atomic force microscopy was carried out, in combination with immunostaining and Western blotting, on bovine tibia to identify unrecognized building blocks involved in bone formation and for an elucidation of the process of collagen calcification in bone formation. Before demineralization, tiles of hydroxyapatite crystals were found stacked along bundles of collagen fibers. These tiles were homogeneous in size and shape with dimensions 0.69 × 0.77 × 0.2 μm3. Demineralization dissolved these tiles and revealed small spheres with an apparent diameter around 145 nm. These spheres appeared to be lipid particles since organic solvents dissolved them. The parallel collagen bundles had widths mostly <2 μm. Composition analysis of compact bones indicated a high content of apolar lipids, including triglycerides and cholesterol esters. Apolar lipids are known to form lipid droplets or lipoproteins, and these spheres are unlikely to be matrix vesicles as reported for collagen calcification in epiphyseal cartilages. Results from this study suggest that the layer of round lipid particles on collagen fibers mediates the mineral deposition onto the fibers. The homogeneous size of these lipid particles and the presence of apolipoprotein in demineralized bone tissue suggest the possibility that these particles might be of lipoprotein origin. More studies are needed to verify the last claim and to exclude the possibility that they are secreted lipid droplets. PMID:16980361

  4. Differences in the vascular tree of the femoral trochlear growth cartilage at osteochondrosis-susceptible sites in foals revealed by SWI 3T MRI.

    PubMed

    Martel, Gabrielle; Kiss, Sabrina; Gilbert, Guillaume; Anne-Archard, Nicolas; Richard, Hélène; Moser, Thomas; Laverty, Sheila

    2016-09-01

    Focal ischemic chondronecrosis of epiphyseal growth cartilage (EGC) during endochondral ossification is believed to be a key early event on the pathway to osteochondrosis (OC) in both animals and humans. The lateral ridge of the equine trochlea is a site where severe osteochondritis dissecans lesions frequently arise and is a model for the study of naturally occurring disease. Non-invasive imaging to investigate EGC vascularity may help elucidate why focal ischemia occurs. 3T MRI susceptibility-weighted imaging (SWI) of femoral trochlea of OC predisposed (n = 10) and control (n = 6) day-old foals, with minimal joint loading after birth, was performed. SWI and 3D images revealed the EGC vascular architecture without a contrast agent, and matched histologic observations. No vascular lesions were identified. There was no difference in the vascular density and architecture between control and OC specimens, but a striking difference in vascular pattern was seen at the OC-predilected site in the lateral ridge of the trochlea in all specimens, when compared to the medial ridge of the trochlea, where OC lesions are rarely observed. This site was less ossified with more perichondrial vessels not yet bridging with the subchondral bone. Furthermore, the mean vascular density of all specimens was significantly higher at this site. We speculate that joint morphology and focal internal trauma on this site with a unique vascular architecture may trigger ischemic events at this site. SWI permitted visualization of EGC in young foals with a clinical 3T MRI and paves the way for non-destructive longitudinal studies to improve understanding of OC in all species. © 2016 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 34:1539-1546, 2016. PMID:26740060

  5. Utility of Early Screening Magnetic Resonance Imaging for Extensive Hip Osteonecrosis in Pediatric Patients Treated With Glucocorticoids

    PubMed Central

    Kaste, Sue C.; Pei, Deqing; Cheng, Cheng; Neel, Michael D.; Bowman, W. Paul; Ribeiro, Raul C.; Metzger, Monika L.; Bhojwani, Deepa; Inaba, Hiroto; Campbell, Patrick; Rubnitz, Jeffrey E.; Jeha, Sima; Sandlund, John T.; Downing, James R.; Relling, Mary V.; Pui, Ching-Hon; Howard, Scott C.

    2015-01-01

    Purpose Hip osteonecrosis frequently complicates treatment with glucocorticoids. When extensive (affecting ≥ 30% of the epiphyseal surface), 80% of joints collapse within 2 years, so interventions are needed to prevent this outcome. Patients and Methods This prospective cohort magnetic resonance imaging (MRI) screening study included all consecutive children treated for acute lymphoblastic leukemia on a single protocol. Hip MRI was performed at 6.5 and 9 months from diagnosis (early screening) and at completion of chemotherapy (final evaluation) to determine whether screening could identify extensive hip osteonecrosis before symptom development. Results Of 498 patients, 462 underwent screening MRI. Extensive asymptomatic osteonecrosis was identified by early screening in 26 patients (41 hips); another four patients (seven hips) were detected after the screening period, such that screening sensitivity was 84.1% and specificity was 99.4%. The number of joints screened to detect one lesion was 20.1 joints for all patients, 4.4 joints for patients older than 10 years, and 198 joints for patients ≤ 10 years old (P < .001). Of the 40 extensive lesions in patients older than 10 years, 19 required total hip arthroplasty and none improved. Of eight extensive lesions in younger patients, none required arthroplasty and four improved. Conclusion In patients age 10 years old or younger who require prolonged glucocorticoid therapy, screening for extensive hip osteonecrosis is unnecessary because their risk is low and lesions tend to heal. In children older than 10 years, early screening successfully identifies extensive asymptomatic lesions in patients who would be eligible for studies of interventions to prevent or delay joint collapse. PMID:25605853

  6. Short-term and long-term site-specific effects of tennis playing on trabecular and cortical bone at the distal radius.

    PubMed

    Ducher, Gaële; Tournaire, Nicolas; Meddahi-Pellé, Anne; Benhamou, Claude-Laurent; Courteix, Daniel

    2006-01-01

    Mechanical loading during growth magnifies the normal increase in bone diameter occurring in long bone shafts, but the response to loading in long bone ends remains unclear. The aim of the study was to investigate the effects of tennis playing during growth at the distal radius, comparing the bone response at trabecular and cortical skeletal sites. The influence of training duration was examined by studying bone response in short-term (children) and long-term (young adults) perspectives. Bone area, bone mineral content (BMC), and bone mineral density (BMD) of the radius were measured by DXA in 28 young (11.6 +/- 1.4 years old) and 47 adult tennis players (22.3 +/- 2.7 years old), and 70 age-matched controls (12 children, 58 adults) at three sites: the ultradistal region (trabecular), the mid-distal region, and the third-distal region (cortical). At the ultradistal radius, young and adult tennis players displayed similar side-to-side differences, the asymmetry in BMC reaching 16.3% and 13.8%, respectively (P < 0.0001). At the mid- and third-distal radius, the asymmetry was much greater in adults than in children (P < 0.0001) for all the bone parameters (mid-distal radius, +6.6% versus +15.6%; third-distal radius, +6.9% versus +13.3%, for BMC). Epiphyseal bone enduring longitudinal growth showed a great capacity to respond to mechanical loading in children. Prolonging tennis playing into adulthood was associated with further increase in bone mineralization at diaphyseal skeletal sites. These findings illustrate the benefits of practicing impact-loading sports during growth and maintaining physical activity into adulthood to enhance bone mass accrual and prevent fractures later in life.

  7. Skeletal benefits after long-term retirement in former elite female gymnasts.

    PubMed

    Eser, Prisca; Hill, Briony; Ducher, Gaele; Bass, Shona

    2009-12-01

    Bone strength benefits after long-term retirement from elite gymnastics in terms of bone geometry and volumetric BMD were studied by comparing retired female gymnasts to moderately active age-matched women. In a cross-sectional study, 30 retired female gymnasts were compared with 30 age-matched moderately active controls. Bone geometric and densitometric parameters were measured by pQCT at the distal epiphyses and shafts of the tibia, femur, radius, and humerus. Muscle cross-sectional areas were assessed from the shaft scans. Independent t-tests were conducted on bone and muscle variables to detect differences between the two groups. The gymnasts had retired for a mean of 6.1 +/- 0.4 yr and were engaged in

  8. The tyrosine phosphatase, OST-PTP, is expressed in mesenchymal progenitor cells early during skeletogenesis in the mouse.

    PubMed

    Yunker, Laurie A; Undersander, Anne; Lian, Jane B; Stein, Gary S; Carlson, Cathy S; Mauro, Laura J

    2004-11-01

    Osteotesticular protein tyrosine phosphatase (OST-PTP; OST), is a signaling molecule which catalyzes the removal of phosphates from tyrosine residues. It is known to be highly regulated in bone cells and has been shown to be important for the in vitro progression from a preosteoblast to a mature, mineralizing cell. However, the in vivo expression of this phosphatase during skeletogenesis has not been examined. Using Northern analysis and in situ hybridization (ISH), we have observed that this gene is strongly expressed early during the formation of the mouse skeleton. By 12.5 days postcoitum (dpc), expression of OST mRNA transcripts increases and is localized within the mesenchyme of craniofacial bones, ribs, limbs, and Meckel's cartilage. Following initiation of chondrogenesis, OST mRNA becomes restricted to the perichondrium of all endochondral elements. With ossification, this gene is also expressed by cells, presumably osteoblasts, at the chondro-osseous border and along cortical and trabecular bone surfaces. Unlike other bone markers examined such as Osterix and type II collagen, OST transcripts do not appear to be expressed by chondrocytes of epiphyseal cartilage or by non-hypertrophic or hypertrophic chondrocytes. Because the temporal expression patterns of OST and Runx2 were similar suggesting a potential interrelationship in bone regulation and function, OST expression was examined in transgenic mice lacking a functional Runx2/Cbfal protein (Runx2/Cbfal delta C (deltaC)) and possessing a cartilaginous skeleton. Interestingly, the OST gene was expressed with localization similar in wild-type, homozygous, and heterozygous embryos. These studies suggest that the expression of the OST gene may be important during skeletogenesis, potentially from commitment of mesenchymal cells to the ossification of new bones. Early in embryogenesis, regulation of OST expression may be independent of Runx2/Cbfa1.

  9. The lameness of King Philip II and Royal Tomb I at Vergina, Macedonia.

    PubMed

    Bartsiokas, Antonis; Arsuaga, Juan-Luis; Santos, Elena; Algaba, Milagros; Gómez-Olivencia, Asier

    2015-08-11

    King Philip II was the father of Alexander the Great. He suffered a notorious penetrating wound by a lance through his leg that was nearly fatal and left him lame in 339 B.C.E. (i.e., 3 y before his assassination in 336 B.C.E.). In 1977 and 1978 two male skeletons were excavated in the Royal Tombs II and I of Vergina, Greece, respectively. Tomb I also contained another adult (likely a female) and a newborn skeleton. The current view is that Philip II was buried in Tomb II. However, the male skeleton of Tomb II bears no lesions to his legs that would indicate lameness. We investigated the skeletal material of Tomb I with modern forensic techniques. The male individual in Tomb I displays a conspicuous case of knee ankylosis that is conclusive evidence of lameness. Right through the overgrowth of the knee, there is a hole. There are no obvious signs that are characteristic of infection and osteomyelitis. This evidence indicates that the injury was likely caused by a severe penetrating wound to the knee, which resulted in an active inflammatory process that stopped years before death. Standard anthropological age-estimation techniques based on dry bone, epiphyseal lines, and tooth analysis gave very wide age ranges for the male, centered around 45 y. The female would be around 18-y-old and the infant would be a newborn. It is concluded that King Philip II, his wife Cleopatra, and their newborn child are the occupants of Tomb I. PMID:26195763

  10. Evaluation of an IBAD thin-film process as an alternative method for surface incorporation of bioceramics on dental implants: a study in dogs.

    PubMed

    Coelho, Paulo G; Suzuki, Marcelo

    2005-03-01

    Thin-film bioceramic coatings are potential alternatives to overcome the limitations provided by other commercially available coating techniques like PSHA, where variable bioceramic dissolution added to a metalloceramic weak link are process- inherent. The purpose of this investigation was to determine the overall and site specific (to 0.5 mm from implant surface) levels of osseoactivity around a thin-film (IBAD processed) coated titanium alloy implant versus a non surface modified (sand-blasted/acid etched) titanium alloy implant in a canine model. The surgical model comprised the proximal tibiae epiphyses with four implants placed in each limb remaining for 2 and 4 weeks in-vivo. 10 mg/Kg oxytetracycline was administered 48 hours prior to euthanization. The limbs were retrieved by sharp dissection, reduced to blocks, and subsequently nondecalcified processed for fluorescent microscopy. Micrographs (20x mag) were acquired around the implant perimeter and merged for overall biological response evaluations, and four micrographs (40x mag. subdivided in rectangles) were acquired along one of the implant sides for tetracycline labeled area fraction quantification. The results showed biocompatible and osseoconductive properties for the thin-film coated and uncoated titanium alloy implants. Tetracycline labeled area fraction analyses showed that the thin-film coated implants presented significantly higher overall and site specific osseoactivity levels at 2 and 4 weeks. The site specific osseoactivity values were significantly higher compared to overall values for control and thin-film coated implants at both times in-vivo. According to the results obtained in this study, thin-film coated implants enhanced biological response at the early implantation times evaluated. PMID:20944888

  11. Long-term results of Galeazzi-equivalent injuries in adolescents--open reduction and internal fixation of the ulna.

    PubMed

    Cha, Soo Min; Shin, Hyun Dae; Jeon, Je Hyung

    2016-03-01

    We diagnosed 10 Galeazzi-equivalent injuries. We report the radiological and clinical results at the end of growth in adolescents, including the results of ulnar lengthening. This study included 10 Galeazzi-equivalent injuries (seven patients requiring open reduction and three requiring closed reduction for ulnar lesions) seen since 2004. The periosteum was entrapped around the fractured physis in five patients and the extensor carpi ulnaris to the periosteum was interposed in two patients. Among the seven patients, ulnar lengthening was performed in only three patients. Ulnar variances at the time of the lengthening were -6, -6, and -5 mm. Gradual lengthening was performed. Radiologic abnormalities, including the ulnar variances, were investigated at the end of growth. In addition, pain scores, the range of wrist motion, and grip strength were evaluated and compared with nonlengthened ulnas. The mean age of the patients at the final follow-up was 19.7 years, and the mean total follow-up period was 6 years. The final ulnar variances were -5, -5, -3, and 0 mm in four patients with nonlengthened ulnas among the seven patients. Three patients with lengthened ulnas showed final neutral variances. In four nonlengthened ulnas, three ulnas bowed to the radial side and two ulnar heads had an inclined and deformed shape. Joint mismatch of the distal radioulnar joint surface was found in one patient with lengthened and one with nonlengthened ulnas. Three patients with nonlengthened ulnas showed decreased range of wrist motions. Comparison of contralateral grip strength indicated a significant difference between patients with or without lengthened ulnas. Long-term follow-up after Galeazzi-equivalent injuries may be essential to check for premature epiphyseal closure, length discrepancies, or joint incongruency. A procedure for a shortened ulna could be needed; however, the appropriate time and degree of lengthening remain to be investigated.

  12. Resveratrol Treatment Delays Growth Plate Fusion and Improves Bone Growth in Female Rabbits

    PubMed Central

    Karimian, Elham; Tamm, Chen; Chagin, Andrei S.; Samuelsson, Karin; Kjartansdóttir, Kristín Rós; Ohlsson, Claes; Sävendahl, Lars

    2013-01-01

    Trans-resveratrol (RES), naturally produced by many plants, has a structure similar to synthetic estrogen diethylstilbestrol, but any effect on bone growth has not yet been clarified. Pre-pubertal ovary-intact New Zealand white rabbits received daily oral administration of either vehicle (control) or RES (200 mg/kg) until growth plate fusion occurred. Bone growth and growth plate size were longitudinally monitored by X-ray imaging, while at the endpoint, bone length was assessed by a digital caliper. In addition, pubertal ovariectomized (OVX) rabbits were treated with vehicle, RES or estradiol cypionate (positive control) for 7 or 10 weeks and fetal rat metatarsal bones were cultured in vitro with RES (0.03 µM–50 µM) and followed for up to 19 days. In ovary-intact rabbits, sixteen-week treatment with RES increased tibiae and vertebrae bone growth and subsequently improved final length. In OVX rabbits, RES delayed fusion of the distal tibia, distal femur and proximal tibia epiphyses and femur length and vertebral bone growth increased when compared with controls. Histomorphometrical analysis showed that RES-treated OVX rabbits had a wider distal femur growth plate, enlarged resting zone, increased number/size of hypertrophic chondrocytes, increased height of the hypertrophic zone, and suppressed chondrocyte expression of VEGF and laminin. In cultured fetal rat metatarsal bones, RES stimulated growth at 0.3 µM while at higher concentrations (10 μM and 50 μM) growth was inhibited. We conclude that RES has the potential to improve longitudinal bone growth. The effect was associated with a delay of growth plate fusion resulting in increased final length. These effects were accompanied by a profound suppression of VEGF and laminin expression suggesting that impairment of growth plate vascularization might be an underlying mechanism. PMID:23840780

  13. Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events.

    PubMed

    Armour, Christine M; Smith, Amanda; Hartley, Taila; Chardon, Jodi Warman; Sawyer, Sarah; Schwartzentruber, Jeremy; Hennekam, Raoul; Majewski, Jacek; Bulman, Dennis E; Suri, Mohnish; Boycott, Kym M

    2016-07-01

    In 1987 Fitzsimmons and Guilbert described identical male twins with progressive spastic paraplegia, brachydactyly with cone shaped epiphyses, short stature, dysarthria, and "low-normal" intelligence. In subsequent years, four other patients, including one set of female identical twins, a single female child, and a single male individual were described with the same features, and the eponym Fitzsimmons syndrome was adopted (OMIM #270710). We performed exome analysis of the patient described in 2009, and one of the original twins from 1987, the only patients available from the literature. No single genetic etiology exists that explains Fitzsimmons syndrome; however, multiple different genetic causes were identified. Specifically, the twins described by Fitzsimmons had heterozygous mutations in the SACS gene, the gene responsible for autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS), as well as a heterozygous mutation in the TRPS1, the gene responsible in Trichorhinophalangeal syndrome type 1 (TRPS1 type 1) which includes brachydactyly as a feature. A TBL1XR1 mutation was identified in the patient described in 2009 as contributing to his cognitive impairment and autistic features with no genetic cause identified for his spasticity or brachydactyly. The findings show that these individuals have multiple different etiologies giving rise to a similar phenotype, and that "Fitzsimmons syndrome" is in fact not one single syndrome. Over time, we anticipate that continued careful phenotyping with concomitant genome-wide analysis will continue to identify the causes of many rare syndromes, but it will also highlight that previously delineated clinical entities are, in fact, not syndromes at all. © 2016 Wiley Periodicals, Inc. PMID:27133561

  14. Osteoarthritis among the prehispanic population from La Gomera and El Hierro (Canary Islands): a comparative study.

    PubMed

    Castañeyra-Ruiz, María; Trujillo-Mederos, Aioze; Arnay-de-la-Rosa, Matilde; González-Reimers, Emilio

    2015-01-01

    The pathogenesis of osteoarthritis is still unclear, and several factors may play a role in its development, including joint trauma or microtrauma (usually related to lifestyle), local inflammation, loading charge, and genetics. Assessment of osteoarthritis among ancient populations is important, since it may yield information relative to life habits. Therefore, we have performed the present study in order to assess the prevalence of osteoarthritis among the prehispanic populations from La Gomera and El Hierro, two islands of the Canary Archipelago with a similar size and altitude which were colonized by individuals of North African origin about 2000 - 2500 years ago. The economy of these people was based on goat herding, shellfishing, and agriculture together with consumption of some wild vegetal species. However, despite a similar geographic environment and a similar economic pattern, prevalence of osteoarthritis was by far higher among the population from La Gomera (78.57 % vs 15.85 %, p < 0.001), and that of eburnation, 11.65 % and 1.05 %, respectively (p = 0.016); in contrast, the population of El Hierro was markedly more robust than that of La Gomera. Globally, a trend to an inverse relationship was observed between epiphyseal robusticity index and the presence of osteoarthritis, which was statistically significant when only men were analysed. However, after performing a multivariate analysis, the only factor that was independently related to the presence of osteoarthritis was the variable "island" (i.e., population group), suggesting that - possibly - genetic factors played a major role in the differences observed.

  15. Effects of physical exercise on the cartilage of ovariectomized rats submitted to immobilization

    PubMed Central

    Simas, José Martim Marques; Kunz, Regina Inês; Brancalhão, Rose Meire Costa; Ribeiro, Lucinéia de Fátima Chasko; Bertolini, Gladson Ricardo Flor

    2015-01-01

    ABSTRACT Objective To analyze the effects of physical exercise on cartilage histomorphometry in osteoporosis-induced rats subjected to immobilization. Methods We used 36 Wistar rats that were separated into six groups: G1, G2 and G3 submitted to pseudo-oophorectomy, and G4, G5 and G6 submitted to oophorectomy. After 60 days at rest, G2, G3, G5 and G6 had the right hind limbs immobilized for 15 days, followed by the same period in remobilization, being free in the box to G2 and G5, and climb ladder to G3 and G6. At the end of the experiment, the rats were euthanized, their tibias bilaterally removed and submitted to histological routine. Results There was significant increase in thickness of the articular cartilage (F(5;29)=13.88; p<0.0001) and epiphyseal plate (F(5;29)=14.72; p<0.0001) as the number of chondrocytes (F(5;29)=5.11; p=0.0021) in ovariectomized rats, immobilized and submitted to exercise. In the morphological analysis, degeneration of articular cartilage with subchondral bone exposure, loss of cellular organization, discontinuity of tidemark, presence of cracks and flocculation in ovariectomized, immobilized and free remobilization rats were found. In ovariectomized and immobilized remobilization ladder rats, signs of repair of the cartilaginous structures in the presence of clones, pannus, subcortical blood vessel invasion in the calcified zone, increasing the amount of isogenous groups and thickness of the calcified zone were observed. Conclusion Exercise climb ladder was effective in cartilaginous tissue recovery process damaged by immobilization, in model of osteoporosis by ovariectomy in rats. PMID:26761556

  16. Intermittent applied mechanical loading induces subchondral bone thickening that may be intensified locally by contiguous articular cartilage lesions

    PubMed Central

    Poulet, B.; de Souza, R.; Kent, A.V.; Saxon, L.; Barker, O.; Wilson, A.; Chang, Y.-M.; Cake, M.; Pitsillides, A.A.

    2015-01-01

    Summary Objectives Changes in subchondral bone (SCB) and cross-talk with articular cartilage (AC) have been linked to osteoarthritis (OA). Using micro-computed tomography (micro-CT) this study: (1) examines changes in SCB architecture in a non-invasive loading mouse model in which focal AC lesions are induced selectively in the lateral femur, and (2) determines any modifications in the contralateral knee, linked to changes in gait, which might complicate use of this limb as an internal control. Methods Right knee joints of CBA mice were loaded: once with 2weeks of habitual use (n = 7), for 2weeks (n = 8) or for 5weeks (n = 5). Both left (contralateral) and right (loaded) knees were micro-CT scanned and the SCB and trabecular bone analysed. Gait analysis was also performed. Results These analyses showed a significant increase in SCB thickness in the lateral compartments in joints loaded for 5weeks, which was most marked in the lateral femur; the contralateral non-loaded knee also showed transient SCB thickening (loaded once and repetitively). Epiphyseal trabecular bone BV/TV and trabecular thickness were also increased in the lateral compartments after 5 weeks of loading, and in all joint compartments in the contralateral knee. Gait analysis showed that applied loading only affected gait in the contralateral himd-limb in all groups of mice from the second week after the first loading episode. Conclusions These data indicate a spatial link between SCB thickening and AC lesions following mechanical trauma, and the clear limitations associated with the use of contralateral joints as controls in such OA models, and perhaps in OA diagnosis. PMID:25655679

  17. Targeted Disruption of Shp2 in Chondrocytes Leads to Metachondromatosis With Multiple Cartilaginous Protrusions

    PubMed Central

    Kim, Harry KW; Feng, Gen-Sheng; Chen, Di; King, Philip D; Kamiya, Nobuhiro

    2014-01-01

    Metachondromatosis is a benign bone disease predominantly observed in the hands and feet of children or young adults demonstrating two different manifestations: a cartilage-capped bony outgrowth on the surface of the bone called exostosis and ectopic cartilaginous nodules inside the bone called enchondroma. Recently, it has been reported that loss-of-function mutations of the SHP2 gene, which encodes the SHP2 protein tyrosine phosphatase, are associated with metachondromatosis. The purpose of this study was to investigate the role of SHP2 in postnatal cartilage development, which is largely unknown. We disrupted Shp2 during the postnatal stage of mouse development in a chondrocyte-specific manner using a tamoxifen-inducible system. We found tumor-like nodules on the hands and feet within a month after the initial induction. The SHP2-deficient mice demonstrated an exostosis-like and enchondroma-like phenotype in multiple bones of the hands, feet, and ribs as assessed by X-ray and micro-computed tomography (CT). Histological assessment revealed the disorganization of the growth plate cartilage, a cartilaginous protrusion from the epiphyseal bone, and ectopic cartilage nodules within the bones, which is consistent with the pathological features of metachondromatosis in humans (ie, both exostosis and enchondroma). At molecular levels, we observed an abundant expression of Indian hedgehog protein (IHH) and fibroblast growth factor 2 (FGF2) and impaired expression of mitogen-activated protein kinases (MAPK) in the affected cartilage nodules in the SHP2-deficient mice. In summary, we have generated a mouse model of metachondromatosis that includes manifestations of exostosis and enchondroma. This study provides a novel model for the investigation of the pathophysiology of the disease and advances the understanding of metachondromatosis. This model will be useful to identify molecular mechanisms for the disease cause and progression as well as to develop new therapeutic

  18. Mycoplasma corogypsi associated polyarthritis and tenosynovitis in black vultures (Coragyps atratus)

    PubMed Central

    Van Wettere, A. J.; Ley, D. H.; Scott, D. E.; Buckanoff, H. D.; Degernes, L. A.

    2013-01-01

    Three wild American black vultures (Coragyps atratus) were presented to rehabilitation centers with swelling of multiple joints, including elbows, stifles, hocks, and carpal joints, and of the gastrocnemius tendons. Cytological examination of the joint fluid exudate indicated heterophilic arthritis. Radiographic examination in 2 vultures demonstrated periarticular soft tissue swelling in both birds and irregular articular surfaces with subchondral bone erosion in both elbows in 1 bird. Prolonged antibiotic therapy administered in 2 birds did not improve the clinical signs. Necropsy and histological examination demonstrated a chronic lymphoplasmacytic arthritis involving multiple joints and gastrocnemius tenosynovitis. Articular lesions varied in severity and ranged from moderate synovitis and cartilage erosion and fibrillation to severe synovitis, diffuse cartilage ulceration, subchondral bone loss and/or sclerosis, pannus, synovial cysts, and epiphyseal osteomyelitis. No walled bacteria were observed or isolated from the joints. However, mycoplasmas polymerase chain reactions were positive in at least 1 affected joint from each bird. Mycoplasmas were isolated from joints of 1 vulture that did not receive antibiotic therapy. Sequencing of 16S rRNA gene amplicons from joint samples and the mycoplasma isolate identified Mycoplasma corogypsi in 2 vultures and was suggestive in the third vulture. Mycoplasma corogypsi identification was confirmed by sequencing the 16S-23S intergenic spacer region of mycoplasma isolates. This report provides further evidence that M. corogypsi is a likely cause of arthritis and tenosynovitis in American black vultures. Cases of arthritis and tenosynovitis in New World vultures should be investigated for presence of Mycoplasma spp, especially M. corogypsi. PMID:22903399

  19. Naturally occurring secondary nutritional hyperparathyroidism in cattle egrets (Bubulcus ibis) from Central Texas

    USGS Publications Warehouse

    Phalen, D.N.; Drew, M.L.; Contreras, C.; Roset, K.; Mora, M.

    2005-01-01

    Naturally occurring secondary nutritional hyperparathyroidism is described in the nestlings of two colonies of cattle egrets (Bubulcus ibis) from Central Texas (Bryan and San Antonio, Texas, USA). Nestlings from a third colony (Waco, Texas, USA) were collected in a subsequent year for comparison. Birds from the first two colonies consistently had severe osteopenia and associated curving deformities and folding fractures of their long bones. These birds also had reduced bone ash, increased osteoclasia, a marked decrease in osteoblast activity, variable lengthening and shortening of the hypertrophic zone of the epiphyseal cartilage, decreased and disorganized formation of new bone, and a marked hypertrophy and hyperplasia of the parathyroid glands as compared to birds collected from the third colony. Fibrous osteodystrophy was found in all of the birds from San Antonio and Bryan. Evidence of moderate to severe calcium deficiency was also identified in 33% of the cattle egrets collected from Waco. Gut contents of affected chicks contained predominately grasshoppers and crickets; vertebrate prey items were absent from the Bryan birds. Grasshoppers and crickets collected from fields frequented by the adult egrets in 1994 had 0.12-0.28% calcium and 0.76-0.81% phosphorus. Pooled grasshoppers and crickets collected during a subsequent wet early spring averaged 0.24% calcium and 0.65% phosphorus. Although the phosphorus content of the insect prey was adequate for growth, calcium was approximately one-third the minimum calcium requirement needed for growth for other species of birds. It was postulated that cattle egrets breeding in Central Texas have expanded their range into habitat that contains less vertebrate prey, and as a result, many nestling egrets are being fed diets that contain suboptimal calcium. Therefore, in years where vertebrate prey is scarce and forage for insect prey is reduced in calcium, nestling egrets are at risk for developing secondary nutritional

  20. Embryonic, Larval, and Juvenile Development of the Sea Biscuit Clypeaster subdepressus (Echinodermata: Clypeasteroida)

    PubMed Central

    Vellutini, Bruno C.; Migotto, Alvaro E.

    2010-01-01

    Sea biscuits and sand dollars diverged from other irregular echinoids approximately 55 million years ago and rapidly dispersed to oceans worldwide. A series of morphological changes were associated with the occupation of sand beds such as flattening of the body, shortening of primary spines, multiplication of podia, and retention of the lantern of Aristotle into adulthood. To investigate the developmental basis of such morphological changes we documented the ontogeny of Clypeaster subdepressus. We obtained gametes from adult specimens by KCl injection and raised the embryos at 26C. Ciliated blastulae hatched 7.5 h after sperm entry. During gastrulation the archenteron elongated continuously while ectodermal red-pigmented cells migrated synchronously to the apical plate. Pluteus larvae began to feed in 3 d and were 20 d old at metamorphosis; starved larvae died 17 d after fertilization. Postlarval juveniles had neither mouth nor anus nor plates on the aboral side, except for the remnants of larval spicules, but their bilateral symmetry became evident after the resorption of larval tissues. Ossicles of the lantern were present and organized in 5 groups. Each group had 1 tooth, 2 demipyramids, and 2 epiphyses with a rotula in between. Early appendages consisted of 15 spines, 15 podia (2 types), and 5 sphaeridia. Podial types were distributed in accordance to Lovén's rule and the first podium of each ambulacrum was not encircled by the skeleton. Seven days after metamorphosis juveniles began to feed by rasping sand grains with the lantern. Juveniles survived in laboratory cultures for 9 months and died with wide, a single open sphaeridium per ambulacrum, aboral anus, and no differentiated food grooves or petaloids. Tracking the morphogenesis of early juveniles is a necessary step to elucidate the developmental mechanisms of echinoid growth and important groundwork to clarify homologies between irregular urchins. PMID:20339592

  1. Proximal Tibia Chondroblastoma Treated With Curettage and Bone Graft and Cement Use.

    PubMed

    Cho, Hwan Seong; Park, Yeong Kyoon; Oh, Joo Han; Lee, Jung Hyun; Han, Ilkyu; Kim, Han-Soo

    2016-01-01

    Chondroblastoma has a predilection for the epiphyses or apophyses of long tubular bones. Management of lesions in the proximal tibia is challenging because it is difficult to gain access to intraepiphyseal lesions for completion of curettage. From October 2007 to December 2011, 9 patients with de novo chondroblastoma of the proximal tibia underwent surgery at the authors' institution. All patients initially presented with pain, and 5 patients had limitation of range of motion of the ipsilateral knee. Four lesions abutted the tibial attachment sites of the cruciate ligaments. Surgical procedures included intralesional tumor curettage, additional burring, and packing of the defect with bone graft and/or bone cement. The extra-articular approach was used according to tumor location. The medial or lateral parapatellar approach was used when the tumor was located in the anterior two-thirds of the horizontal plane. When a lesion was located in the posterior third, the posteromedial or posterolateral approach was used as the lesion was cornered. Mean duration of follow-up was 47.2 months (range, 27-80 months). No local recurrence or pulmonary metastasis was noted at latest follow-up. Mean functional score was 29.3 points (range, 28-30 points). All patients fully recovered range of motion in the affected knee. No avulsion fracture or anteroposterior instability of the knee joint was detected. Results of the current study suggest that intralesion curettage followed by additional burring with an extra-articular approach is a successful treatment option for chondroblastoma of the proximal tibia.

  2. Chronic Inhibition of ERK1/2 Signaling Improves Disordered Bone and Mineral Metabolism in Hypophosphatemic (Hyp) Mice

    PubMed Central

    Zhang, Martin Y. H.; Ranch, Daniel; Pereira, Renata C.; Armbrecht, Harvey J.; Portale, Anthony A.

    2012-01-01

    The X-linked hypophosphatemic (Hyp) mouse carries a loss-of-function mutation in the phex gene and is characterized by hypophosphatemia due to renal phosphate (Pi) wasting, inappropriately suppressed 1,25-dihydroxyvitamin D [1,25(OH)2D] production, and rachitic bone disease. Increased serum fibroblast growth factor-23 concentration is responsible for the disordered metabolism of Pi and 1,25(OH)2D. In the present study, we tested the hypothesis that chronic inhibition of fibroblast growth factor-23-induced activation of MAPK signaling in Hyp mice can reverse their metabolic derangements and rachitic bone disease. Hyp mice were administered the MAPK inhibitor, PD0325901 orally for 4 wk. PD0325901 induced a 15-fold and 2-fold increase in renal 1α-hydroxylase mRNA and protein abundance, respectively, and thereby higher serum 1,25(OH)2D concentrations (115 ± 13 vs. 70 ± 16 pg/ml, P < 0.05), compared with values in vehicle-treated Hyp mice. With PD0325901, serum Pi levels were higher (5.1 ± 0.5 vs. 3 ± 0.2 mg/dl, P < 0.05), and the protein abundance of sodium-dependent phosphate cotransporter Npt2a, was greater than in vehicle-treated mice. The rachitic bone disease in Hyp mice is characterized by abundant unmineralized osteoid bone volume, widened epiphyses, and disorganized growth plates. In PD0325901-treated Hyp mice, mineralization of cortical and trabecular bone increased significantly, accompanied by a decrease in unmineralized osteoid volume and thickness, as determined by histomorphometric analysis. The improvement in mineralization in PD0325901-treated Hyp mice was confirmed by microcomputed tomography analysis, which showed an increase in cortical bone volume and thickness. These findings provide evidence that in Hyp mice, chronic MAPK inhibition improves disordered Pi and 1,25(OH)2D metabolism and bone mineralization. PMID:22334725

  3. Chronic inhibition of ERK1/2 signaling improves disordered bone and mineral metabolism in hypophosphatemic (Hyp) mice.

    PubMed

    Zhang, Martin Y H; Ranch, Daniel; Pereira, Renata C; Armbrecht, Harvey J; Portale, Anthony A; Perwad, Farzana

    2012-04-01

    The X-linked hypophosphatemic (Hyp) mouse carries a loss-of-function mutation in the phex gene and is characterized by hypophosphatemia due to renal phosphate (Pi) wasting, inappropriately suppressed 1,25-dihydroxyvitamin D [1,25(OH)₂D] production, and rachitic bone disease. Increased serum fibroblast growth factor-23 concentration is responsible for the disordered metabolism of Pi and 1,25(OH)₂D. In the present study, we tested the hypothesis that chronic inhibition of fibroblast growth factor-23-induced activation of MAPK signaling in Hyp mice can reverse their metabolic derangements and rachitic bone disease. Hyp mice were administered the MAPK inhibitor, PD0325901 orally for 4 wk. PD0325901 induced a 15-fold and 2-fold increase in renal 1α-hydroxylase mRNA and protein abundance, respectively, and thereby higher serum 1,25(OH)₂D concentrations (115 ± 13 vs. 70 ± 16 pg/ml, P < 0.05), compared with values in vehicle-treated Hyp mice. With PD0325901, serum Pi levels were higher (5.1 ± 0.5 vs. 3 ± 0.2 mg/dl, P < 0.05), and the protein abundance of sodium-dependent phosphate cotransporter Npt2a, was greater than in vehicle-treated mice. The rachitic bone disease in Hyp mice is characterized by abundant unmineralized osteoid bone volume, widened epiphyses, and disorganized growth plates. In PD0325901-treated Hyp mice, mineralization of cortical and trabecular bone increased significantly, accompanied by a decrease in unmineralized osteoid volume and thickness, as determined by histomorphometric analysis. The improvement in mineralization in PD0325901-treated Hyp mice was confirmed by microcomputed tomography analysis, which showed an increase in cortical bone volume and thickness. These findings provide evidence that in Hyp mice, chronic MAPK inhibition improves disordered Pi and 1,25(OH)₂D metabolism and bone mineralization.

  4. Chondroblastoma of the distal femur resected through a small fenestra via computed tomography navigation and endoscopy: a case report

    PubMed Central

    2013-01-01

    Introduction Chondroblastoma is a benign bone tumor with a relatively high incidence in older children and adolescents during the period of active epiphyseal growth. It is generally regarded as a benign neoplasm, but sometimes it grows aggressively or recurs. To prevent recurrence, complete curettage is important; however, such an approach can be extremely difficult to perform precisely when the chondroblastoma arises deep in the epiphysis. In our patient’s case, we used a computed tomography-based navigation system with registration technique involving skin marker fiduciaries and endoscopic curettage of the lesion. Case presentation A 16-year-old Japanese girl presented to our facility with left knee joint pain, which started nine months before her initial examination. Computed tomography and magnetic resonance imaging studies of the left knee showed a radiolucent lesion with marginal sclerosis and lobular homogeneous hypo-intensity and hyper-intensity signals in the distal epiphysis of the left femoral epiphysis, carried through to the growth plate. To prevent recurrence of chondroblastoma and growth disturbance, we used a computed tomography-based navigation system with registration technique involving skin marker fiduciaries and endoscopic curettage of the lesion. Wide excision with total removal of the chondroblastoma in the distal femur often requires large exposure with associated drawbacks, where a wide excision near the growth plate can potentially lead to growth disturbance. Therefore, in an accessible location in the distal femur, endoscopic excision of chondroblastoma under navigation system guidance can be performed with minimal operative damage. Conclusions In the setting of a benign intra-osseous lesion infiltrating the growth plate, arthroscopic retrieval or excision under a computed tomography-based navigation system should be considered before proceeding with open surgery. PMID:23805921

  5. [Treatment of unstable fractures of the proximal end of the humerus using elastic curved intramedullary wires].

    PubMed

    Zifko, B; Zifko, B; Poigenfürst, J

    1987-04-01

    At the Accident Hospital Lorenz Böhler and the Accident Hospital Meidling in Vienna, 48 patients with proximal humeral fractures were treated by closed reduction, intramedullary fixation with elastic pins and immobilization for two weeks in a Velpeau type stockinette (Gilchrist) between February 1985 and February 1986. The pins have a diameter of 2 mm. At there lower end there is a 20 mm long elastic curve which is ment to anker the pin in the entry hole to the intramedullary cavity, preventing sliding out of the implant. At the upper end the last 20 mm of the wire are angulated for 15 degrees. AO-classification was used. 39 patients had surgical neck-fractures. There were 34 displaced fractures (AO-type A 2/2), six dislocation- and more segment fractures and three epiphyseal separations of the adductiontype. The functional results of 36 patients were evaluated according to Neer's table. 29 patients had more than 80 points, four patients had more than 70 points and three had poor results. Reason for poor results was in one case a fracture with dislocation of the greater tuberosity which should have been treated by open reduction and the age in a 82 year old patient, who had a poor functional result after twelve weeks of treatment despite good fracture healing. There were no problems with wound healing, infections, myositis ossificans or Sudeck disease. Closed reductions of unstable surgical neck fractures and intramedullary fixation causes least damage to the soft tissues of the shoulder, leading to early good functional results. PMID:3603877

  6. Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.

    PubMed

    Michot, Caroline; Le Goff, Carine; Goldenberg, Alice; Abhyankar, Avinash; Klein, Céline; Kinning, Esther; Guerrot, Anne-Marie; Flahaut, Philippe; Duncombe, Alice; Baujat, Genevieve; Lyonnet, Stanislas; Thalassinos, Caroline; Nitschke, Patrick; Casanova, Jean-Laurent; Le Merrer, Martine; Munnich, Arnold; Cormier-Daire, Valérie

    2012-04-01

    Acrodysostosis is a rare autosomal-dominant condition characterized by facial dysostosis, severe brachydactyly with cone-shaped epiphyses, and short stature. Moderate intellectual disability and resistance to multiple hormones might also be present. Recently, a recurrent mutation (c.1102C>T [p.Arg368*]) in PRKAR1A has been identified in three individuals with acrodysostosis and resistance to multiple hormones. After studying ten unrelated acrodysostosis cases, we report here de novo PRKAR1A mutations in five out of the ten individuals (we found c.1102C>T [p.Arg368(∗)] in four of the ten and c.1117T>C [p.Tyr373His] in one of the ten). We performed exome sequencing in two of the five remaining individuals and selected phosphodiesterase 4D (PDE4D) as a candidate gene. PDE4D encodes a class IV cyclic AMP (cAMP)-specific phosphodiesterase that regulates cAMP concentration. Exome analysis detected heterozygous PDE4D mutations (c.673C>A [p.Pro225Thr] and c.677T>C [p.Phe226Ser]) in these two individuals. Screening of PDE4D identified heterozygous mutations (c.568T>G [p.Ser190Ala] and c.1759A>C [p.Thr587Pro]) in two additional acrodysostosis cases. These mutations occurred de novo in all four cases. The four individuals with PDE4D mutations shared common clinical features, namely characteristic midface and nasal hypoplasia and moderate intellectual disability. Metabolic screening was normal in three of these four individuals. However, resistance to parathyroid hormone and thyrotropin was consistently observed in the five cases with PRKAR1A mutations. Finally, our study further supports the key role of the cAMP signaling pathway in skeletogenesis. PMID:22464250

  7. Medial percutaneous hemi-epiphysiodesis improves the valgus tilt of the femoral head in developmental dysplasia of the hip (DDH) type-II avascular necrosis

    PubMed Central

    Agus, Haluk; Kazimoglu, Cemal; Reisoglu, Ali; Kalenderer, Onder

    2015-01-01

    Background and purpose Avascular necrosis (AVN) is a major cause of disability after treatment of developmental dysplasia of the hip (DDH), leading to femoral head deformity, acetabular dysplasia, and osteoarthritis in adult life. Type-II AVN is characterized by retarded growth in the lateral aspect of the physis or by premature lateral fusion, which produces a valgus deformity of the head on the neck of the femur. We investigated the effect of medial percutaneous hemi-epiphysiodesis as a novel technique in the treatment of late-diagnosed type-II AVN. Patients and methods 9 patients (11 hips) with a diagnosis of type-II AVN who underwent medial percutaneous hemi-epiphysiodesis after the surgical treatment for DDH were included in the study. 10 patients (12 hips) with the same diagnosis but who did not undergo hemi-epiphysodesis were chosen as a control group. Preoperative and postoperative articulotrochanteric distances, head-shaft angles, CE (center-edge) angles, and physeal inclination angles were measured. The treatment group underwent medial hemi-epiphysodesis at a mean age of 8 years. The mean ages of the treatment group and the control group at final follow-up were 14 and 12 years respectively. The mean duration of follow-up was 5.7 years in the treatment group and 8.3 years in the control group. Results Preoperative articulotrochanteric distance, head-shaft angle, and functional outcome at the final follow-up assessment were similar in the 2 groups. However, preoperative and postoperative CE angles and physeal inclination angles differed significantly in the treatment group (p < 0.05). The final epiphyseal valgus angles were better in the treatment group than in the control group (p = 0.05). The treatment group improved after the operation. Interpretation Medial percutaneous epiphysiodesis performed through a mini-incision under fluoroscopic control is a worthwhile modality in terms of changing the valgus tilt of the femoral head. PMID:25907982

  8. Recent origin of low trabecular bone density in modern humans.

    PubMed

    Chirchir, Habiba; Kivell, Tracy L; Ruff, Christopher B; Hublin, Jean-Jacques; Carlson, Kristian J; Zipfel, Bernhard; Richmond, Brian G

    2015-01-13

    Humans are unique, compared with our closest living relatives (chimpanzees) and early fossil hominins, in having an enlarged body size and lower limb joint surfaces in combination with a relatively gracile skeleton (i.e., lower bone mass for our body size). Some analyses have observed that in at least a few anatomical regions modern humans today appear to have relatively low trabecular density, but little is known about how that density varies throughout the human skeleton and across species or how and when the present trabecular patterns emerged over the course of human evolution. Here, we test the hypotheses that (i) recent modern humans have low trabecular density throughout the upper and lower limbs compared with other primate taxa and (ii) the reduction in trabecular density first occurred in early Homo erectus, consistent with the shift toward a modern human locomotor anatomy, or more recently in concert with diaphyseal gracilization in Holocene humans. We used peripheral quantitative CT and microtomography to measure trabecular bone of limb epiphyses (long bone articular ends) in modern humans and chimpanzees and in fossil hominins attributed to Australopithecus africanus, Paranthropus robustus/early Homo from Swartkrans, Homo neanderthalensis, and early Homo sapiens. Results show that only recent modern humans have low trabecular density throughout the limb joints. Extinct hominins, including pre-Holocene Homo sapiens, retain the high levels seen in nonhuman primates. Thus, the low trabecular density of the recent modern human skeleton evolved late in our evolutionary history, potentially resulting from increased sedentism and reliance on technological and cultural innovations. PMID:25535354

  9. How much more would KNM-WT 15000 have grown?

    PubMed

    Ruff, Christopher B; Burgess, M Loring

    2015-03-01

    Because of its completeness, the juvenile Homo ergaster/erectus KNM-WT 15000 has played an important role in studies of the evolution of body form in Homo. Early attempts to estimate his adult body size used modern human growth models. However, more recent evidence, particularly from the dentition, suggests that he may have had a more chimpanzee-like growth trajectory. Here we re-estimate his adult stature and body mass using ontogenetic data derived from four African ape taxa: Pan troglodytes troglodytes, Pan troglodytes schweinfurthii, Pan paniscus, and Gorilla gorilla gorilla. The average percentage change in femoral and tibial lengths and femoral head breadth between individuals at the same stage of dental development as KNM-WT 15000 - eruption of M2s but not M3s - and adult individuals with fully fused long bone epiphyses, was determined. Results were then applied to KNM-WT 15000, and his adult size estimated from skeletal dimensions using modern human prediction formulae. Using this approach, adult stature best estimates of 176-180 cm and body mass best estimates of 80-83 kg were obtained. These estimates are close to those estimated directly from longitudinal changes in body length and body mass between 8 and 12 years of age in chimpanzees, the suggested chronological equivalent to KNM-WT 15000's remaining growth period. Thus, even using an African ape growth model, it is likely that KNM-WT 15000 would have attained close to 180 cm in stature (without a slight reduction for his lower cranial height) and 80 kg in body mass as an adult. Other evidence from the East African Early Pleistocene indicates that KNM-WT 15000 was not unusually large-bodied for his time period. PMID:25449954

  10. [Different forms of clinical presentation of an autosomal dominant hypophosphatemic rickets caused by a FGF23 mutation in one family].

    PubMed

    Negri, Armando Luis; Negrotti, Teresa; Alonso, Guillermo; Pasqualini, Titania

    2004-01-01

    In this report we describe different forms of clinical presentation of an autosomal dominant hypophosphatemic rickets (ADHR) in 4 members of the same family as well as the treatment used in these patients and their response to it. Patient No 1: a 60 year old female who consulted for bone pain: Bone densitometry showed osteoporosis. Laboratory assays showed hypophosphatemia with low renal phosphate threshold, high total alkaline phosphatase, normal intact PTH and normal serum calcium. With neutral phosphate and calcitriol, the biochemical parameters normalized and bone densitometry improved significantly in less than a year. Patient No 2 her grand daughter consulted at 1 year and 8 months of age for growth retardation (height at percentile 3) and genu varum. Laboratory assays showed low serum phosphate and high total alkaline phosphatase; thickening and irregular epiphyseal borders of the wrists were observed radiologically. She began treatment with calcitriol and phosphorus with normalization of laboratory parameters and increase in growth (height increasing to percentile 50 after 20 months of therapy). Patient No 3: mother of patient No 2, she had no clinical manifestations and normal densitometry but presented low serum phosphate (1.9 mg/dl) that normalized with neutral phosphate therapy. Patient No 4: he was the youngest son of Patient No 1, who had had hypophosphatemic rickets, by age 5; his serum phosphate normalized without treatment At age 29, he presented normal serum phosphate and bone densitometry. Genomic DNA analysis performed in patient No 3, showed missense mutation with substitution of arginine at position 179 for glutamine. The family was catalogued as having autosomal dominant hypophosphatemic rickets/osteomalacia.

  11. Systemic treatments with the low-calcemic 1,25(OH)(2)D(3) analogs JKF or QW increase both the morphological and biochemical responses to estradiol-17beta in rat tibiae.

    PubMed

    Somjen, D; Katzburg, S; Posner, G H; Livne, E; Kaye, A M

    2007-04-15

    We demonstrated previously that daily injection for 3 days of the less calcemic vitamin D analogs: JK 1624 F(2)-2 (JKF) and QW 1624F(2)-2 (QW) followed by estradiol-17beta (E(2)) in female rats upregulated creatine kinase-specific activity (CK) in skeletal tissues. In this study, we evaluated both histomorphological and biochemical changes due to a regime of 4 days treatment with JKF or QW, followed by injection of E(2) on day 5, repeated for 2.5 months. Ovariectomized female rats (Ovx) were injected 2 weeks after surgery, with JKF or QW at 0.2 ng/g BW followed by injections of E(2) (1 microg/rat) on day 5 of each week for 2.5 months. Rats were sacrificed 24 h after the last injection and bones were analyzed. JKF alone decreased growth plate width, increased % total bone volume (%TBV), with no change in cortical thickness. In contrast, QW restored growth plate width and %TBV with no change in cortical thickness. Combined with E(2), JKF restored %TBV and growth plate width but with no change in cortical thickness, while QW restored significantly all parameters including cortical thickness. Moreover, there was also an increase in the responsiveness of CK to E(2) in epiphyseal cartilage and diaphyseal bone but not in uterus. Thus, vitamin D less calcemic analogs increased responsiveness to E(2) morphologically as well as biochemically. We, therefore, conclude that combined treatment of less calcemic analogs vitamin D and E(2) might be superior for treatment of bone damage caused by ovariectomy in female rats and might be applied for post-menopausal osteoporosis.

  12. Skeletal development in Pan paniscus with comparisons to Pan troglodytes.

    PubMed

    Bolter, Debra R; Zihlman, Adrienne L

    2012-04-01

    Fusion of skeletal elements provides markers for timing of growth and is one component of a chimpanzee's physical development. Epiphyseal closure defines bone growth and signals a mature skeleton. Most of what we know about timing of development in chimpanzees derives from dental studies on Pan troglodytes. Much less is known about the sister species, Pan paniscus, with few in captivity and a wild range restricted to central Africa. Here, we report on the timing of skeletal fusion for female captive P. paniscus (n = 5) whose known ages range from 0.83 to age 11.68 years. Observations on the skeletons were made after the individuals were dissected and bones cleaned. Comparisons with 10 female captive P. troglodytes confirm a generally uniform pattern in the sequence of skeletal fusion in the two captive species. We also compared the P. paniscus to a sample of three unknown-aged female wild P. paniscus, and 10 female wild P. troglodytes of known age from the Taï National Park, Côte d'Ivoire. The sequence of teeth emergence to bone fusion is generally consistent between the two species, with slight variations in late juvenile and subadult stages. The direct-age comparisons show that skeletal growth in captive P. paniscus is accelerated compared with both captive and wild P. troglodytes populations. The skeletal data combined with dental stages have implications for estimating the life stage of immature skeletal materials of wild P. paniscus and for more broadly comparing the skeletal growth rates among captive and wild chimpanzees (Pan), Homo sapiens, and fossil hominins.

  13. The role of carnivores and their relationship to hominin settlements in the TD6-2 level from Gran Dolina (Sierra de Atapuerca, Spain)

    NASA Astrophysics Data System (ADS)

    Saladié, Palmira; Rodríguez-Hidalgo, Antonio; Huguet, Rosa; Cáceres, Isabel; Díez, Carlos; Vallverdú, Josep; Canals, Antoni; Soto, María; Santander, Boris; Bermúdez de Castro, José María; Arsuaga, Juan Luis; Carbonell, Eudald

    2014-06-01

    Pleistocene level TD6-2 of the Gran Dolina site (Sierra de Atapuerca, Spain) is the result of anthropogenic accumulation. Hominin groups occupied the cave as a home base, where they brought in, butchered and consumed the carcasses of ungulates and other hominins. In this paper, we reassess the role of carnivores in the formation and/or modification of the assemblage. We employed different methods to explore the scenario in which the TD6-2 assemblage was formed: (1) identifying the actor responsible for tooth marks; (2) determining the frequency of carnivore tooth marks and their distribution; (3) identifying the co-occurrence of modifications (butchering marks and carnivore tooth marks); (4) calculating the percentage of change and the epiphysis to shaft ratio. Carnivore tooth marks are scarce, as is the co-occurrence of hominin and carnivore modifications. However, not all tooth marks have been attributed to a particular agent due to the high equifinality between human and carnivore tooth marks. For these reasons, the frequency of tooth marks and the co-occurrence of modifications have been of little help in interpreting the role of carnivores. Axial skeletal remains and the epiphyses of the long bones are in large part missing. The percentage of change and the epiphysis to shaft ratio suggest moderate carnivore ravaging activity. Our data indicate that the role of carnivores in TD6-2 seems to have had an impact on the original assemblage after hominins had extracted a large amount of nutrients from the carcasses. Cannibalized hominin remains showed no carnivore tooth marks and have a greater presence of low survival bones compared to ungulate remains. These findings point to a different taphonomic history suggesting that TD6-2 represents a succession of settlements having different characteristics.

  14. LB1 and LB6 Homo floresiensis are not modern human (Homo sapiens) cretins.

    PubMed

    Brown, Peter

    2012-02-01

    Excavations in the late Pleistocene deposits at Liang Bua cave, Flores, have uncovered the skeletal remains of several small-bodied and small-brained hominins in association with stone artefacts and the bones of Stegodon. Due to their combination of plesiomorphic, unique and derived traits, they were ascribed to a new species, Homo floresiensis, which, along with Stegodon, appears to have become extinct ∼17 ka (thousand years ago). However, recently it has been argued that several characteristics of H. floresiensis were consistent with dwarfism and evidence of delayed development in modern human (Homo sapiens) myxoedematous endemic (ME) cretins. This research compares the skeletal and dental morphology in H. floresiensis with the clinical and osteological indicators of cretinism, and the traits that have been argued to be associated with ME cretinism in LB1 and LB6. Contrary to published claims, morphological and statistical comparisons did not identify the distinctive skeletal and dental indicators of cretinism in LB1 or LB6 H. floresiensis. Brain mass, skeletal proportions, epiphyseal union, orofacial morphology, dental development, size of the pituitary fossa and development of the paranasal sinuses, vault bone thickness and dimensions of the hands and feet all distinguish H. floresiensis from modern humans with ME cretinism. The research team responsible for the diagnosis of ME cretinism had not examined the original H. floresiensis skeletal materials, and perhaps, as a result, their research confused taphonomic damage with evidence of disease, and thus contained critical errors of fact and interpretation. Behavioural scenarios attempting to explain the presence of cretinous H. sapiens in the Liang Bua Pleistocene deposits, but not unaffected H. sapiens, are both unnecessary and not supported by the available archaeological and geochronological evidence from Flores.

  15. Bone age assessment meets SIFT

    NASA Astrophysics Data System (ADS)

    Kashif, Muhammad; Jonas, Stephan; Haak, Daniel; Deserno, Thomas M.

    2015-03-01

    Bone age assessment (BAA) is a method of determining the skeletal maturity and finding the growth disorder in the skeleton of a person. BAA is frequently used in pediatric medicine but also a time-consuming and cumbersome task for a radiologist. Conventionally, the Greulich and Pyle and the Tanner and Whitehouse methods are used for bone age assessment, which are based on visual comparison of left hand radiographs with a standard atlas. We present a novel approach for automated bone age assessment, combining scale invariant feature transform (SIFT) features and support vector machine (SVM) classification. In this approach, (i) data is grouped into 30 classes to represent the age range of 0- 18 years, (ii) 14 epiphyseal ROIs are extracted from left hand radiographs, (iii) multi-level image thresholding, using Otsu method, is applied to specify key points on bone and osseous tissues of eROIs, (iv) SIFT features are extracted for specified key points for each eROI of hand radiograph, and (v) classification is performed using a multi-class extension of SVM. A total of 1101 radiographs of University of Southern California are used in training and testing phases using 5- fold cross-validation. Evaluation is performed for two age ranges (0-18 years and 2-17 years) for comparison with previous work and the commercial product BoneXpert, respectively. Results were improved significantly, where the mean errors of 0.67 years and 0.68 years for the age ranges 0-18 years and 2-17 years, respectively, were obtained. Accuracy of 98.09 %, within the range of two years was achieved.

  16. Applicability of Greulich-Pyle and Tanner-Whitehouse grading methods to MRI when assessing hand bone age in forensic age estimation: A pilot study.

    PubMed

    Urschler, Martin; Krauskopf, Astrid; Widek, Thomas; Sorantin, Erich; Ehammer, Thomas; Borkenstein, Martin; Yen, Kathrin; Scheurer, Eva

    2016-09-01

    Determination of skeletal development is a key pillar in forensic age estimation of living persons. Radiological assessment of hand bone age is widely used until the age of about 17-18 years, applying visual grading techniques to hand radiographs. This study investigated whether Greulich-Pyle (GP) and Tanner-Whitehouse (TW2) grading can be equally used for magnetic resonance imaging (MRI) data, which would offer the huge benefit of avoiding ionizing radiation. In 18 subjects aged between 7 and 17 years a radiograph and an MRI scan of the hand were performed. Epiphyseal ossification of hand bones was rated by two blinded radiologists with both GP and TW2. Correlation between hand MRIs and radiographs was analyzed by linear regression and inter-observer agreement was assessed. Correlation between age estimates from MRI and radiographs was high for both GP (r(2)=0.98) and TW2 (r(2)=0.93). MRI showed a tendency to estimate age slightly lower for 14-18 year-olds, which would be favorable regarding majority age determination in case this result could be reproduced using a currently not existing reference estimation method based on MRI data. Inter-observer agreement was similar for GP in radiographs and MRI, while for TW2, agreement in MRI was lower than in radiographs. In spite of limitations regarding sample size and recruited subjects, our results indicate that the use of GP and TW2 on MRI data offers the possibility of hand bone age estimation without the need for ionizing radiation. PMID:27344264

  17. Articular soft tissue anatomy of the archosaur hip joint: Structural homology and functional implications.

    PubMed

    Tsai, Henry P; Holliday, Casey M

    2015-06-01

    Archosaurs evolved a wide diversity of locomotor postures, body sizes, and hip joint morphologies. The two extant archosaurs clades (birds and crocodylians) possess highly divergent hip joint morphologies, and the homologies and functions of their articular soft tissues, such as ligaments, cartilage, and tendons, are poorly understood. Reconstructing joint anatomy and function of extinct vertebrates is critical to understanding their posture, locomotor behavior, ecology, and evolution. However, the lack of soft tissues in fossil taxa makes accurate inferences of joint function difficult. Here, we describe the soft tissue anatomies and their osteological correlates in the hip joint of archosaurs and their sauropsid outgroups, and infer structural homology across the extant taxa. A comparative sample of 35 species of birds, crocodylians, lepidosaurs, and turtles ranging from hatchling to skeletally mature adult were studied using dissection, imaging, and histology. Birds and crocodylians possess topologically and histologically consistent articular soft tissues in their hip joints. Epiphyseal cartilages, fibrocartilages, and ligaments leave consistent osteological correlates. The archosaur acetabulum possesses distinct labrum and antitrochanter structures on the supraacetabulum. The ligamentum capitis femoris consists of distinct pubic- and ischial attachments, and is homologous with the ventral capsular ligament of lepidosaurs. The proximal femur has a hyaline cartilage core attached to the metaphysis via a fibrocartilaginous sleeve. This study provides new insight into soft tissue structures and their osteological correlates (e.g., the antitrochanter, the fovea capitis, and the metaphyseal collar) in the archosaur hip joint. The topological arrangement of fibro- and hyaline cartilage may provide mechanical support for the chondroepiphysis. The osteological correlates identified here will inform systematic and functional analyses of archosaur hindlimb evolution and

  18. The lameness of King Philip II and Royal Tomb I at Vergina, Macedonia

    PubMed Central

    Bartsiokas, Antonis; Arsuaga, Juan-Luis; Santos, Elena; Algaba, Milagros; Gómez-Olivencia, Asier

    2015-01-01

    King Philip II was the father of Alexander the Great. He suffered a notorious penetrating wound by a lance through his leg that was nearly fatal and left him lame in 339 B.C.E. (i.e., 3 y before his assassination in 336 B.C.E.). In 1977 and 1978 two male skeletons were excavated in the Royal Tombs II and I of Vergina, Greece, respectively. Tomb I also contained another adult (likely a female) and a newborn skeleton. The current view is that Philip II was buried in Tomb II. However, the male skeleton of Tomb II bears no lesions to his legs that would indicate lameness. We investigated the skeletal material of Tomb I with modern forensic techniques. The male individual in Tomb I displays a conspicuous case of knee ankylosis that is conclusive evidence of lameness. Right through the overgrowth of the knee, there is a hole. There are no obvious signs that are characteristic of infection and osteomyelitis. This evidence indicates that the injury was likely caused by a severe penetrating wound to the knee, which resulted in an active inflammatory process that stopped years before death. Standard anthropological age-estimation techniques based on dry bone, epiphyseal lines, and tooth analysis gave very wide age ranges for the male, centered around 45 y. The female would be around 18-y-old and the infant would be a newborn. It is concluded that King Philip II, his wife Cleopatra, and their newborn child are the occupants of Tomb I. PMID:26195763

  19. The lameness of King Philip II and Royal Tomb I at Vergina, Macedonia.

    PubMed

    Bartsiokas, Antonis; Arsuaga, Juan-Luis; Santos, Elena; Algaba, Milagros; Gómez-Olivencia, Asier

    2015-08-11

    King Philip II was the father of Alexander the Great. He suffered a notorious penetrating wound by a lance through his leg that was nearly fatal and left him lame in 339 B.C.E. (i.e., 3 y before his assassination in 336 B.C.E.). In 1977 and 1978 two male skeletons were excavated in the Royal Tombs II and I of Vergina, Greece, respectively. Tomb I also contained another adult (likely a female) and a newborn skeleton. The current view is that Philip II was buried in Tomb II. However, the male skeleton of Tomb II bears no lesions to his legs that would indicate lameness. We investigated the skeletal material of Tomb I with modern forensic techniques. The male individual in Tomb I displays a conspicuous case of knee ankylosis that is conclusive evidence of lameness. Right through the overgrowth of the knee, there is a hole. There are no obvious signs that are characteristic of infection and osteomyelitis. This evidence indicates that the injury was likely caused by a severe penetrating wound to the knee, which resulted in an active inflammatory process that stopped years before death. Standard anthropological age-estimation techniques based on dry bone, epiphyseal lines, and tooth analysis gave very wide age ranges for the male, centered around 45 y. The female would be around 18-y-old and the infant would be a newborn. It is concluded that King Philip II, his wife Cleopatra, and their newborn child are the occupants of Tomb I.

  20. A cross-sectional analysis of age related changes in the osteometric dimensions of long bones in modern South Africans of European and African descent.

    PubMed

    Vance, V L; Steyn, M; L'Abbé, E N; Becker, P J

    2010-06-15

    New techniques are continuously developed to establish individualizing characteristics of unknown skeletonized remains. However, the critical evaluations of older, and seemingly standardized, methods are also necessary. Since many of the methods to determine skeletal sex are used in a medico-legal arena, the application of proper techniques to achieve accurate results is paramount. The purpose of this study was to evaluate whether the osteometric variables that are often used in discriminant function formulae to determine sex, namely the dimensions of the proximal and distal articular surfaces and the mid-shaft diameters of the long bones, increase or decrease with the advancement of age. Twenty-three standard anthropometric measurements were taken from the long bones of 404 male (n=106 white, n=298 black) and 189 female (n=82 white, n=107 black) known skeletons housed at the medical schools of the Universities of Pretoria and the Witwatersrand in South Africa. Results indicated that males and females of both ancestral groups were sexually dimorphic for the long bone measurements. The mean size of these measurements demonstrated a statistically significant increase in size from young to old groups in white females and males, with black females remaining static for their measurements and changes with age. Reasons for an increase in size are multi-faceted and may include normal degenerative changes such as bone remodeling, microfractures at articular joint surfaces, and changes in the relationship of cortical and endosteal bone as well as disease (osteoporosis). Males also increase in robusticity long after their epiphyses had closed. These changes may pose challenges to the accurate determination of sex should only metric characteristics be used.