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Sample records for schmid metaphyseal chondrodysplasia

  1. Congenital Adrenal Hyperplasia and Schmid Metaphyseal Chondrodysplasia in a Child

    PubMed Central

    Khorasani, Efat; Vakili, Rahim

    2016-01-01

    Congenital adrenal hyperplasia (CAH) is a group of hereditary diseases, which are autosomal recessive. CAH occurs due to defect in one of the cortisol coding genes and often clinically presents itself with signs of androgen overproduction. In this article, we report a case of CAH and Schmid metaphyseal dysplasia. Our literature review indicated that this report is the first attempt on CYP11B1 and Schmid dysplasia in a child. The specific diagnosis of 11-β-hydroxylase deficiency can be determined using high basal levels of deoxycorticosterone and/or 11-deoxycortisol serums. PMID:26722148

  2. Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia

    PubMed Central

    Ridanpaa, M; Ward, L; Rockas, S; Sarkioja, M; Makela, H; Susic, M; Glorieux, F; Cole, W; Makitie, O

    2003-01-01

    Background: The Schmid type of metaphyseal chondrodysplasia (MCDS) is generally due to mutations in COL10A1 encoding for type X collagen of cartilage. Methods: We performed a study on the genes coding for the RNA components of RNase MRP (MRPR) and RNase P (H1RNA) among 20 patients with diagnosis of MCDS and no mutations in COL10A1. Results: Two patients were found to be homozygous for a base substitution G for A at nucleotide 70 of RMRP, which is the major mutation causing cartilage–hair hypoplasia. No pathogenic mutations were detected in H1RNA. Conclusion: Cartilage–hair hypoplasia diagnosis should be considered in patients with metaphyseal chondrodysplasia even in the absence of any extra-skeletal manifestations if no mutation in COL10A1 can be found and the family history is compatible with autosomal recessive inheritance. Correct diagnosis is important for genetic counselling and for proper follow up of the patients. PMID:14569119

  3. Metaphyseal chondrodysplasia.

    PubMed Central

    Spranger, J. W.

    1977-01-01

    Any review of the metaphyseal chondrodysplasias is complicated by their variety and mainly unknown pathogenesis. The more familiar types display considerable clinical and radiological diversity: even more so the rarer disorders which still require complete definition, but differences in their mode of inheritance make diagnostic precision mandatory. These dysplasias present in infancy or in childhood, when the patient, usually dwarfed, may be proportionate, so that some forms may be confused with rickets or other lesions. Mental retardation is unusual, but the skin, hair, nails and facies provide valuable diagnostic features. Radiological abnormalities mainly affect the metaphyses of the shortened limb bones, less often the skull, vertebrae, pelvis, ribs and extremities, and sometimes their distribution may indicate the specific type of dysplasia. In a further complex group multiple systems are involved, notably the pancreas, intestine and lympho-reticular, causing malabsorption and haematological or immunological disorders. Images Fig. 1 Fig. 2 Fig. 3 Fig. 4 Fig. 5 Fig. 6 PMID:335375

  4. PCR direct genomic sequencing of COL10A1 in a kindred with metaphyseal chondrodysplasia-Schmid type (MCDS)

    SciTech Connect

    Brown, T.C.; Descartes, M.; Longshore, J.W.

    1994-09-01

    Type X collagen is a short chain nonfibrillar extracellular-matrix component that is specifically and transiently sythesized by hypertrophic chondrocytes at sites of endochondral ossification. Metaphyseal chondrodysplasia-Schmid type (MCDS) is an autosomal dominant disorder of the osseous skeleton. To date, seven mutations within the encoding type X collagen (COL10A1) gene have been described in MC. All the mutations described have been identified in the carboxyl-terminal noncollagenous domain, suggesting that the effect of these mutations is to impair the mutant polypeptide`s ability to participate in chain association and trimer formation. A 3 generation kindred with MCDS has been studied by amplifying an 831 base pair (bp) region of the COL10A1 gene which included the carboxyl-terminal domain. The PCR product was directly sequenced on eleven family members, 4 affected and 7 unaffected. No mutation was identified in the region studied. Analysis of other coding regions of type X collagen are currently under investigation. Mutations in the upstream coding regions, mutations that affect mRNA stability, or genetic heterogeneity are likely explanations for those MCDS cases without identified mutations.

  5. 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.

  6. Murk Jansen's metaphyseal chondrodysplasia with long-term followup.

    PubMed

    Silverthorn, K G; Houston, C S; Duncan, B P

    1987-01-01

    The fourteenth reported patient with Murk Jansen's metaphyseal chondrodysplasia is presented, with a remarkable followup from birth to the age of 15 years. Numerous invasive procedures were performed in pursuit of erroneous provisional diagnoses. Five of these patients presented in infancy with radiographic metaphyseal changes similar to rickets, but with preservation of the provisional zone of calcification. Following infancy, these patients reveal the more typical short-limbed dwarfism, with fusiform joints and bowed extremities.

  7. A distinctive type of metaphyseal chondrodysplasia with characteristic thickening of the distal ulna and radius: possible metaphyseal chondrodysplasia-Rosenberg.

    PubMed

    Lee, Yung-Seng; Elliott, Alison M; Loke, Kah-Yin; Lachman, Ralph S

    2003-05-15

    We report an 8-year-old boy with a distinctive form of metaphyseal chondrodysplasia (MCD). He presented with moderate disproportionate short stature and bony swelling of his wrists, knees, and ankles. There were severe metaphyseal abnormalities with a honeycomb appearance affecting the distal tibiae and fibulae, proximal tibiae, distal femurs, distal ulnae and radii, and both hands. His thoracolumbar spine was normal. Radiological examination of the mother's forearms revealed widening of the distal radii and short ulnae with hypoplastic distal ends. Rosenberg and Löhr [1986: Eur J Pediatr 145:40-45] reported a four-generational kindred in which affected members had thickening of the wrist proximal to the styloid process of the ulna and thickening of the dorsum sellae. Although many of the radiographic features of this patient are those of MCD-Rosenberg, the skeletal features of our patient do not appear to represent any known classified forms of MCD.

  8. Distinctive metaphyseal chondrodysplasia with severe distal radius and ulna involvement (upper extremity mesomelia) and normal height.

    PubMed

    Camera, Andrea; Camera, Gianni

    2003-10-01

    Metaphyseal chondrodysplasias (MCD) are skeletal disorders characterized by metaphyseal irregularities and, usually, by short stature. In MCD, wide heterogeneity exists with regard to clinical and radiological changes. We report on a patient with clinical and radiological findings of MCD who had coxa valga and normal height with metaphyseal involvement of the long bones. The short radii and ulnae showed a very severe change in their distal metaphyses, leading to mesomelic shortening confined to the upper limbs. Hematological, ophthalmological, and hearing examinations were normal. This type of MCD appears to represent a yet undescribed syndrome.

  9. Characterization of a PTH1R missense mutation responsible for Jansen type metaphyseal chondrodysplasia.

    PubMed

    Shimomura-Kuroki, Junko; Farooq, Muhammad; Sekimoto, Tsuneo; Amizuka, Norio; Shimomura, Yutaka

    2016-05-09

    Parathyroid hormone and parathyroid hormone-related peptide (PTHrP), and its receptor (PTH1R) play an important role in differentiation of bone and cartilage in the developing stages. Constitutive dimers of PTH1R are believed to be dissociated by ligand binding, and monomeric PTH1R is capable of activating G protein. Jansen type metaphyseal chondrodysplasia is caused by missense mutations in PTH1R, which are constitutively active even without the presence of the ligands. However, the underlying pathomechanisms remained largely unknown. In this study, we have attempted to further characterize a PTH1R missense mutation H223R responsible for Jansen type metaphyseal chondrodysplasia. cDNAs encoding wild-type (Wt)- and H223R mutant (Mut)-PTH1R were transfected into HEK293T cells, and as a consequence of western blots, both the Wt- and Mut-PTH1R proteins showed several fragments between 55 and 65 kDa in size, while the patterns of N-glycosylation were distinct between them. Then we hypothesized that the Mut-PTH1R might physically interact with the Wt-PTH1R, leading to affect the downstream cAMP accumulation. Co-immunoprecipitation assays clearly showed that interaction occurred not only between the Wt-PTH1R themselves, but also between the Wt- and Mut-PTH1R. Furthermore, we performed CRE reporter assays to investigate cAMP accumulation. Constitutive, ligand-independent cAMP accumulation was observed in HEK293T cells expressing the Mut-PTH1R. Interestingly, there was a statistically lower constitutive activity in HEK293T cells co-expressing the Wt- and Mut-PTH1R proteins. Summarizing, it seems likely that Mut-PTH1R may be, at least in part, co-localized with Wt-PTH1R by forming a heterodimer, leading to affect the function to each other.

  10. Hypophosphatemia with elevations in serum fibroblast growth factor 23 in a child with Jansen's metaphyseal chondrodysplasia.

    PubMed

    Brown, Whitney W; Jüppner, Harald; Langman, Craig B; Price, Heather; Farrow, Emily G; White, Kenneth E; McCormick, Kenneth L

    2009-01-01

    Previous studies have suggested a regulatory relationship between serum phosphorus, vitamin D, and fibroblast growth factor 23 (FGF23), a hormone that promotes renal excretion of phosphate. Despite these associations, the identity of the primary regulator of serum FGF23 is unresolved. Jansen's metaphyseal chondrodysplasia is a rare autosomal dominant disorder associated with short-limbed dwarfism and other characteristic skeletal abnormalities. This condition is caused by mutations in the PTH/PTHrP receptor that result in ligand-independent cAMP accumulation, thus rendering the receptor constitutively active. These patients typically exhibit asymptomatic hypercalcemia and hypophosphatemia despite low or undetectable serum levels of PTH and PTHrP. A literature search revealed that serum FGF23 levels had not been studied in patients with Jansen's syndrome, a disorder in which the biochemical features present a unique opportunity to study the possible relationship between FGF23 and calcium-phosphorus-vitamin D metabolism. A case of Jansen's syndrome is presented in which serum FGF23 concentrations, along with serum phosphorus and 1,25(OH)(2) vitamin D levels, were measured and compared with those of age-matched controls. Serum FGF23 concentrations in the patient with Jansen's syndrome were found to be markedly and persistently elevated, compared with values in healthy, age-matched controls, despite hypophosphatemia and normal 1,25(OH)(2) vitamin D levels. Together, our findings indicate that serum FGF23 could be governed by factor(s) other than serum phosphorus, potentially by activation of the PTH/PTHrP receptor in bone.

  11. Jansen Metaphyseal Chondrodysplasia due to Heterozygous H223R-PTH1R Mutations With or Without Overt Hypercalcemia.

    PubMed

    Nampoothiri, Sheela; Fernández-Rebollo, Eduardo; Yesodharan, Dhanya; Gardella, Thomas J; Rush, Eric T; Langman, Craig B; Jüppner, Harald

    2016-11-01

    Jansen's metaphyseal chondrodysplasia (JMC) is a rare skeletal dysplasia characterized by abnormal endochondral bone formation and typically severe hypercalcemia despite normal/low levels of PTH. Five different heterozygous activating PTH/PTHrP receptor (PTH1R) mutations that change one of three different amino acid residues are known to cause JMC. Establishing the diagnosis of JMC during infancy or early childhood can be challenging, especially in the absence of family history and/or overt hypercalcemia. We therefore sought to provide radiographic findings supporting this diagnosis early in life. Three patients, a mother and her two sons, had radiographic evidence for JMC. However, obvious hypercalcemia and suppressed PTH levels were encountered only in both affected children. Sanger sequencing and endonuclease (SphI) digestion of PCR-amplified genomic DNA were performed to search for the H223R-PTH1R mutation. The heterozygous H223R mutation was identified in all three affected individuals. Surprisingly, however, the now 38-year-old mother was never overtly hypercalcemic and was therefore not diagnosed until her sons were found to be affected by JMC at the ages of 28 months and 40 days, respectively. The presented radiographic findings at different ages will help diagnose other infants/toddlers suspected of having JMC. The H223R mutation is typically associated with profound hypercalcemia despite low/normal PTH levels. However, the findings presented herein show that overt hypercalcemia is not always encountered in JMC, even if caused by this relatively frequent mutation, which is similar to observations with other PTH1R mutations that show less constitutive activity.

  12. Transcriptional Profiling of Chondrodysplasia Growth Plate Cartilage Reveals Adaptive ER-Stress Networks That Allow Survival but Disrupt Hypertrophy

    PubMed Central

    Cameron, Trevor L.; Bell, Katrina M.; Tatarczuch, Liliana; Mackie, Eleanor J.; Rajpar, M. Helen; McDermott, Ben T.; Boot-Handford, Raymond P.; Bateman, John F.

    2011-01-01

    Metaphyseal chondrodysplasia, Schmid type (MCDS) is characterized by mild short stature and growth plate hypertrophic zone expansion, and caused by collagen X mutations. We recently demonstrated the central importance of ER stress in the pathology of MCDS by recapitulating the disease phenotype by expressing misfolding forms of collagen X (Schmid) or thyroglobulin (Cog) in the hypertrophic zone. Here we characterize the Schmid and Cog ER stress signaling networks by transcriptional profiling of microdissected mutant and wildtype hypertrophic zones. Both models displayed similar unfolded protein responses (UPRs), involving activation of canonical ER stress sensors and upregulation of their downstream targets, including molecular chaperones, foldases, and ER-associated degradation machinery. Also upregulated were the emerging UPR regulators Wfs1 and Syvn1, recently identified UPR components including Armet and Creld2, and genes not previously implicated in ER stress such as Steap1 and Fgf21. Despite upregulation of the Chop/Cebpb pathway, apoptosis was not increased in mutant hypertrophic zones. Ultrastructural analysis of mutant growth plates revealed ER stress and disrupted chondrocyte maturation throughout mutant hypertrophic zones. This disruption was defined by profiling the expression of wildtype growth plate zone gene signatures in the mutant hypertrophic zones. Hypertrophic zone gene upregulation and proliferative zone gene downregulation were both inhibited in Schmid hypertrophic zones, resulting in the persistence of a proliferative chondrocyte-like expression profile in ER-stressed Schmid chondrocytes. Our findings provide a transcriptional map of two chondrocyte UPR gene networks in vivo, and define the consequences of UPR activation for the adaptation, differentiation, and survival of chondrocytes experiencing ER stress during hypertrophy. Thus they provide important insights into ER stress signaling and its impact on cartilage pathophysiology. PMID

  13. Transcriptional profiling of chondrodysplasia growth plate cartilage reveals adaptive ER-stress networks that allow survival but disrupt hypertrophy.

    PubMed

    Cameron, Trevor L; Bell, Katrina M; Tatarczuch, Liliana; Mackie, Eleanor J; Rajpar, M Helen; McDermott, Ben T; Boot-Handford, Raymond P; Bateman, John F

    2011-01-01

    Metaphyseal chondrodysplasia, Schmid type (MCDS) is characterized by mild short stature and growth plate hypertrophic zone expansion, and caused by collagen X mutations. We recently demonstrated the central importance of ER stress in the pathology of MCDS by recapitulating the disease phenotype by expressing misfolding forms of collagen X (Schmid) or thyroglobulin (Cog) in the hypertrophic zone. Here we characterize the Schmid and Cog ER stress signaling networks by transcriptional profiling of microdissected mutant and wildtype hypertrophic zones. Both models displayed similar unfolded protein responses (UPRs), involving activation of canonical ER stress sensors and upregulation of their downstream targets, including molecular chaperones, foldases, and ER-associated degradation machinery. Also upregulated were the emerging UPR regulators Wfs1 and Syvn1, recently identified UPR components including Armet and Creld2, and genes not previously implicated in ER stress such as Steap1 and Fgf21. Despite upregulation of the Chop/Cebpb pathway, apoptosis was not increased in mutant hypertrophic zones. Ultrastructural analysis of mutant growth plates revealed ER stress and disrupted chondrocyte maturation throughout mutant hypertrophic zones. This disruption was defined by profiling the expression of wildtype growth plate zone gene signatures in the mutant hypertrophic zones. Hypertrophic zone gene upregulation and proliferative zone gene downregulation were both inhibited in Schmid hypertrophic zones, resulting in the persistence of a proliferative chondrocyte-like expression profile in ER-stressed Schmid chondrocytes. Our findings provide a transcriptional map of two chondrocyte UPR gene networks in vivo, and define the consequences of UPR activation for the adaptation, differentiation, and survival of chondrocytes experiencing ER stress during hypertrophy. Thus they provide important insights into ER stress signaling and its impact on cartilage pathophysiology.

  14. Chondrodysplasias and TGFβ signaling

    PubMed Central

    Le Goff, Carine; Cormier-Daire, Valerie

    2015-01-01

    Human chondrodysplasias are a group of conditions that affect the cartilage. This review is focused on the involvement of transforming growth factor-β signaling in a group of chondrodysplasias, entitled acromelic dysplasia, characterized by short stature, short hands and restricted joint mobility. PMID:25798233

  15. [Cytokines in bone diseases. Genetic defects of PTH/PTHrP receptor in chondrodysplasia].

    PubMed

    Ogata, Naoshi

    2010-10-01

    Parathyroid hormone-related protein (PTHrP) signaling plays important roles in regulating the differentiation of chondrocytes in endochondral bone development. PTHrP signaling functions as an inhibitory effect on chondrocyte hypertrophy which is a terminal stage of differentiation at a growth plate. Mutations of the PTH÷PTHrP receptor have been identified in Jansen metaphyseal chondrodysplasia, Blomstrand's lethal chondrodysplasia, and enchondromatosis. Furthermore, genetic manipulations of the PTHrP and its receptor genes in mice have demonstrated the critical roles of these proteins in regulating both the switch between proliferation and differentiation of chondrocytes.

  16. Chondrodysplasia punctata presenting with tracheal obstruction.

    PubMed

    Schweiger, Claudia; Nassar, Michel N; Goebel, Debora; Rutter, Michael J

    2017-02-01

    Chondrodysplasia punctata is a group of congenital bone and cartilage disorders characterized by erratic calcification during development. Laryngeal and tracheal calcification and subsequent stenosis, while being reported in several cases of chondrodysplasia punctata, are not frequent findings and there are no proposed management techniques. We describe here a case of an infant with chondrodysplasia punctata associated to tracheal stenosis that was successfully treated with balloon dilation, and with long term follow-up. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  17. Prenatal diagnosis of brachytelephalangic chondrodysplasia punctata: case report.

    PubMed

    Benaicha, A; Dommergues, M; Jouannic, J M; Jacquette, A; Alexandre, M; Le Merrer, M; Ducou Le Pointe, H; Garel, C

    2009-12-01

    Brachytelephalangic chondrodysplasia punctata is a rare congenital skeletal dysplasia. Within the heterogeneous group of chondrodysplasia punctata, the brachytelephalangic type is noteworthy because it has a better prognosis than do the other types. We report a case of brachytelephalangic chondrodysplasia punctata diagnosed by ultrasound imaging at 30 weeks' gestation; it was associated with polyhydramnios and a normal cervical spinal canal. Imaging features are described and differential diagnosis with other forms of chondrodysplasia punctata is discussed. Copyright 2009 ISUOG. Published by John Wiley & Sons, Ltd.

  18. Metaphysics and medical ethics.

    PubMed Central

    Parkin, C

    1995-01-01

    I take issue with Frank Leavitt's sketch of a pragmatic criterion for the relevance of metaphysics to medical ethics. I argue that appeal to the potential for confusion generated by metaphysical subtlety establishes a need for better communication rather than shows philosophical insight beside the point. I demonstrate that the proposed Criterion of Relevance has absurd consequences, and I claim that the relevance of philosophical doctrines, whether ethical or metaphysical, is best accounted for in terms of improved understanding. PMID:7608933

  19. Cancer and metaphysics.

    PubMed

    Zajicek, G

    2001-08-01

    Metaphysics, is generally a pleasant, and harmless intellectual endeavor. Even if leading to wrong conclusions, nobody is hurt. Suppose that contrary to general belief, the Big Bang (1) never happened and the world is eternal. No harm is done. Some philosophers, like Kant, enjoyed life despite the fact that, nature, or the thing in itself, eluded their understanding (2). But suppose that the thing in itself is your patient, and you apply metaphysical reasoning for his treatment, metaphysics may occasionally be damaging. This is particularly pertinent to cancer, a disease that is haunted by false metaphysical statements. Since cancer is part of medicine, the present discourse deals with medical metaphysics. Medicine provides a simple way, or rule of thumb, for distinguishing between correct and wrong medical metaphysical statements. If they harm the patient, they are wrong, and if they aid him, they are correct. Statements that do not affect a patient's well being, e.g., 'Big Bang may be hazardous to your health', are of no apparent value and doubtful. Since treatment outcome is generally uncertain, the physician continually searches for new ideas that may aid his patient, even if they are metaphysical. In diseases, like cancer, that elude his understanding, his adherence to metaphysics intensifies, and he is ready to consider even doubtful suggestions for treatment. Yet by relaxing the rules of thumb for evaluating metaphysical concepts, he gradually slips into the irrational domain. Copyright 2001 Harcourt Publishers Ltd.

  20. Metaphysics and Learning

    ERIC Educational Resources Information Center

    Verran, Helen

    2007-01-01

    Is it possible to learn and simultaneously articulate the metaphysical basis of that learning? In my contribution to the forum I tell of how I came to recognise that bilingual Yoruba children could articulate the contrasting metaphysical framings of Yoruba and English numbering. The story introduces an arena I call "ontics" that recognises the…

  1. Physical and Metaphysical Counterfactuals

    DTIC Science & Technology

    2010-01-01

    terms of a stochastic decision policy in which agents choose actions with certain probabilities. This mapping, from the metaphysical to the physical...should be helpful in assessing whether metaphysically -inspired extensions of current interventional theories are warranted in a given decision making situation.

  2. Metaphysics and Learning

    ERIC Educational Resources Information Center

    Verran, Helen

    2007-01-01

    Is it possible to learn and simultaneously articulate the metaphysical basis of that learning? In my contribution to the forum I tell of how I came to recognise that bilingual Yoruba children could articulate the contrasting metaphysical framings of Yoruba and English numbering. The story introduces an arena I call "ontics" that recognises the…

  3. Tympanoplasty for chondrodysplasia punctata: Case report.

    PubMed

    Hosoya, Makoto; Kanzaki, Sho; Wakabayashi, Satoko; Ogawa, Kaoru

    2017-10-01

    Chondrodysplasia punctata (CP) is a systemic disorder of chondrogenesis. The most prominent features of patients with CP are abnormal faces characterized by a flat nose and short stature. CP patients show various types and levels of hearing loss. This disease is rare, and no successful tympanoplasties with hearing recovery have been reported. Here, we report on a CP case, in which hearing recovery was successfully treated with tympanoplasty. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  4. Is science metaphysically neutral?

    PubMed

    Fry, Iris

    2012-09-01

    This paper challenges the claim that science is metaphysically neutral upheld by contenders of the separation of peacefully co-existent science and religion and by evolutionary theists. True, naturalistic metaphysical claims can neither be refuted nor proved and are thus distinct from empirical hypotheses. However, metaphysical assumptions not only regulate the theoretical and empirical study of nature, but are increasingly supported by the growing empirical body of science. This historically evolving interaction has contributed to the development of a naturalistic worldview that renounces the necessity of a transcendent god and of purposeful design. The thesis presented here differs not only from the claims of the "separatists" and of evolutionary theists. In pointing to the metaphysical aspects of science, I also criticize the failure of some evolutionary naturalists to distinguish between empirical and metaphysical contentions. Most important, based on the examination of science suggested here, creationists' false accusation that science is only a naturalistic dogma is refuted. Finally, the difficulties involved in the position endorsed here for the public support of evolution are acknowledged, taking into account the high religious profile of the American society and the social and political context in the US and in other countries. Copyright © 2012 Elsevier Ltd. All rights reserved.

  5. Immunohistochemical examination of epiphyseal growth plates of Japanese Brown cattle with chondrodysplasia.

    PubMed

    Soeta, S; Shimoura, H; Hatakeyama, N; Kodaka, T; Amasaki, H; Yamano, S; Taniguchi, K; Naito, Y

    2007-01-01

    A new type of inherited chondrodysplasia is described in Japanese Brown cattle, but the basic defects of the epiphyseal growth plate (EGP) in the limb long bones, and proliferation and differentiation of the chondrocytes in the EGP, are not yet understood. In the present study, the EGPs of the limb long bones in eight cases of chondrodysplasia and four normal (control) cattle were examined histologically and immunohistochemically. In the control cattle, proliferative chondrocytes (PCs) and hypertrophic chondrocytes (HCs) were arranged in columns parallel to the long axis of the bone, and HCs were situated on the metaphyseal side of the EGP. In all the affected cattle, many chondrocytes with a hypertrophic appearance were detected in the inner areas of the central portion of the EGP. The PC columns were short and arranged irregularly. Bone tissue and small blood vessels were found frequently in these areas. Six affected cattle showed complete EGP-closure. Backscattered electron (BSE) imaging showed that the calcified cartilage matrix was restricted to the lower region of the hypertrophic zone (HZ) of the EGP in the control cattle, while the calcified cartilage matrix and bone tissue were scattered in the inner areas of the EGP in all the chondrodysplastic cattle. Immunohistochemistry revealed type X collagen in the HCs and cartilage matrix of the HZ in the control cattle. In all the affected cattle, type X collagen was detected in apparently hypertrophic chondrocytes in the inner areas of the EGP. Type II collagen was detected in the entire EGP in all the affected cattle, as in the controls. BrdU (5-bromo-2'-deoxyuridine), injected intravenously 1h before euthanasia was detected in many PCs in the EGP in the control cattle; none, however, was detected in the central portion of the EGP in any affected animal. These observations indicate that differentiation into HCs and calcification of cartilage matrix occur in the inner areas of the central portion of the EGP in

  6. The metaphysics of evolution

    PubMed Central

    2017-01-01

    This paper briefly describes process metaphysics, and argues that it is better suited for describing life than the more standard thing, or substance, metaphysics. It then explores the implications of process metaphysics for conceptualizing evolution. After explaining what it is for an organism to be a process, the paper takes up the Hull/Ghiselin thesis of species as individuals and explores the conditions under which a species or lineage could constitute an individual process. It is argued that only sexual species satisfy these conditions, and that within sexual species the degree of organization varies. This, in turn, has important implications for species' evolvability. One important moral is that evolution will work differently in different biological domains. PMID:28839921

  7. The metaphysics of evolution.

    PubMed

    Dupré, John

    2017-10-06

    This paper briefly describes process metaphysics, and argues that it is better suited for describing life than the more standard thing, or substance, metaphysics. It then explores the implications of process metaphysics for conceptualizing evolution. After explaining what it is for an organism to be a process, the paper takes up the Hull/Ghiselin thesis of species as individuals and explores the conditions under which a species or lineage could constitute an individual process. It is argued that only sexual species satisfy these conditions, and that within sexual species the degree of organization varies. This, in turn, has important implications for species' evolvability. One important moral is that evolution will work differently in different biological domains.

  8. Brachytelephalangic chondrodysplasia punctata: A difficult diagnosis.

    PubMed

    Sanfilippo, Andrea; Bartoletti, Stefano

    2010-01-01

    We report on a child with the brachytelephalangic type of chondrodysplasia punctata, a very rare form of the disease. At birth, the patient was originally diagnosed with the Conradi-Hunermann type, a more common and severe type. A pediatric radiologist questioned the diagnosis and followed up with the patient, who is now three years old. Based on the clinical and radiographic findings, it was concluded that he had the brachytelephalangic type. This unique case demonstrates the necessity of communication among all health care personnel taking care of the patient. The diagnosis greatly affected the child's future and education.

  9. On neuropsychoanalytic metaphysics.

    PubMed

    Talvitie, Vesa; Ihanus, Juhani

    2011-12-01

    Neuropsychoanalysis focuses on the neural counterparts of psychoanalytically interesting phenomena and has left the difference in the metaphysical presuppositions between neuroscience and psychoanalysis unexamined. The authors analyse the logical possibilities concerning the relation between the brain and the mental unconscious in terms of the serial, parallel, epiphenomenalist and Kantian conceptions, and conclude that none of them provides a satisfactory ground for neuropsychoanalysis. As far as psychoanalytic explanations refer to the mental unconscious, they cannot be verified with the help of neuroscience. Neither is it possible to form a picture of how a neuro-viewpoint might be of help for psychoanalytic theorizing. Neuropsychoanalysis has occasionally been seen as a reductionist affair, but the authors suggest that neuropsychoanalysts themselves lean on the hybrid conception, which combines neuroscientific and psychoanalytic viewpoints. The authors state arguments in favour of the interfield conception of neuropsychoanalysis that takes seriously the metaphysical tensions between neuroscience and psychoanalysis. Copyright © 2011 Institute of Psychoanalysis.

  10. Genetics Home Reference: X-linked chondrodysplasia punctata 2

    MedlinePlus

    ... chondrodysplasia punctata 2 is typically associated with normal intelligence and a normal lifespan. However, a much more ... Maher TA, Metzenberg AB. Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical ...

  11. Ontological engineering versus metaphysics

    NASA Astrophysics Data System (ADS)

    Tataj, Emanuel; Tomanek, Roman; Mulawka, Jan

    2011-10-01

    It has been recognized that ontologies are a semantic version of world wide web and can be found in knowledge-based systems. A recent time survey of this field also suggest that practical artificial intelligence systems may be motivated by this research. Especially strong artificial intelligence as well as concept of homo computer can also benefit from their use. The main objective of this contribution is to present and review already created ontologies and identify the main advantages which derive such approach for knowledge management systems. We would like to present what ontological engineering borrows from metaphysics and what a feedback it can provide to natural language processing, simulations and modelling. The potential topics of further development from philosophical point of view is also underlined.

  12. [Spondyloepiphyseal and metaphyseal dysplasia].

    PubMed

    Wirth, T

    2008-01-01

    Spondyloepiphyseal, metaphyseal and spondylometaphyseal dysplasias are a group of hereditary skeletal diseases, which lead to small stature, axial deformities of the lower extremities and spinal deformities. They differ in pathophysiology, heredity and in their clinical and radiologic appearance. The orthopaedic surgeon treats the spinal manifestations and the axial malalignment of the disease. Among the spinal deformities there are instabilities of the upper cervical spine as well as structural deformities like kyphosis and scoliosis. More frequently, the axial malalignment caused by congenital coxa vara, severe genu varum or genu valgum requires treatment. These deformities are managed by corrective osteotomies of the proximal femur, supracondylar or proximal tibial osteotomies around the knee and by temporary epiphyseodeses. Despite a high recurrence rate requiring repeated surgery the patients report great satisfaction with the treatment results. Well-timed orthopaedic treatment helps avoid or delay the inevitable long-term sequelae of untreated patients such as painful degenerative changes of the spine or early onset of severe osteoarthritis.

  13. Rhizomelic chondrodysplasia punctata and cardiac pathology.

    PubMed

    Huffnagel, Irene C; Clur, Sally-Ann B; Bams-Mengerink, Annemieke M; Blom, Nico A; Wanders, Ronald J A; Waterham, Hans R; Poll-The, Bwee Tien

    2013-07-01

    Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive peroxisomal disorder characterised by rhizomelia, contractures, congenital cataracts, facial dysmorphia, severe psychomotor defects and growth retardation. Biochemically, the levels of plasmalogens (major constituents of cellular membranes) are low due to a genetic defect in their biosynthesis. Cardiac muscle contains high concentrations of plasmalogens. Recently cardiac dysfunction was found in a mouse model for RCDP with undetectable plasmalogen levels in all tissues including the heart. This suggests the importance of plasmalogens in normal cardiac development and function. Congenital heart disease (CHD), however, has not been recognised as a major characteristic of RCDP. We aimed to determine the prevalence of CHD found in RCDP patients as well as to describe genetic, biochemical and cardiac correlations. We included 23 patients with genetically proven RCDP. The genetic, biochemical and physical data were evaluated. Echocardiograms were reviewed. Cardiac data were available for 18 patients. 12 (52%) had CHD. All twelve had type 1 RCDP and 11 (92%) had the PEX 7:c.875T>A mutation, of whom seven were homozygous (58%). Plasmalogen levels were significantly lower in the patients with CHD. Cardiac lesions included: septal defects (80% atrial), patent ductus arteriosus, pulmonary artery hypoplasia, tetralogy of Fallot and mitral valve prolapse (mostly older patients). The CHD prevalence among RCDP patients was at least 52%, significantly higher than among the normal population. Plasmalogen levels were significantly lower in patients with CHD. Routine cardiac evaluation should be included in the clinical management of RCDP patients.

  14. Rare Case of Rhizomelic Chondrodysplasia Punctata

    PubMed Central

    Mahale, Yashwant; Kadu, Vikram V.; Chaudhari, Amit

    2015-01-01

    Introduction: Rhizomelic chondrodysplasia punctata (RCDP) is a very rare disease. It impairs the normal development of many parts of the body. The features of this disorder include bony abnormalities, severe mental retardation, joint contractures, cataract and recurrent respiratory infections and breathing problems. Seizures and Distinctive facial features including prominent forehead, depressed nasal bridge and small nose is also associated with this pathology. Being rare, this is very difficult to diagnose when presented at OPD. Proper history and meticulous examination is extremely necessary. Our aim is to discuss current knowledge on etiopathogenesis as well as radiological and clinical symptoms of diseases associated with RCDP. Case Report: 5 yrs old male child presented with chest infection and periarticular swelling of all the small and large joints. The patient was walking with limp. History elicited that the child was born of a consanguineous marriage. The child was delivered at home. Birth weight was 2.4 kgs. He repeatedly had upper respiratory tract infections and was taking treatment for the same. He was further investigated in the form of clinical, biochemical and radiological assessment which stated that the patient was suffering from RCDP. Conclusion: This is a rare presentation. Though this is not curable, management of RCDP is symptomatic and supportive and may include physiotherapy and orthopedic procedures (in later stages) to improve function. The child may also undergo cataract surgery to improve vision. PMID:27299065

  15. The neurology of rhizomelic chondrodysplasia punctata

    PubMed Central

    2013-01-01

    Background To describe the neurologic profiles of Rhizomelic chondrodysplasia punctata (RCDP); a peroxisomal disorder clinically characterized by skeletal abnormalities, congenital cataracts, severe growth and developmental impairments and immobility of joints. Defective plasmalogen biosynthesis is the main biochemical feature. Methods Observational study including review of clinical and biochemical abnormalities, genotype, presence of seizures and neurophysiological studies of a cohort of 16 patients with RCDP. Results Patients with the severe phenotype nearly failed to achieve any motor or cognitive skills, whereas patients with the milder phenotype had profound intellectual disability but were able to walk and had verbal communication skills. Eighty-eight percent of patients developed epileptic seizures. The age of onset paralleled the severity of the clinical and biochemical phenotype. Myoclonic jerks, followed by atypical absences were most frequently observed. All patients with clinical seizures had interictal encephalographic evidence of epilepsy. Visual evoked (VEP) and brain auditory potential (BAEP) studies showed initial normal latency times in 93% of patients. Deterioration of VEP occurred in a minority in both the severe and the milder phenotype. BAEP and somatosensory evoked potentials (SSEP) were more likely to become abnormal in the severe phenotype. Plasmalogens were deficient in all patients. In the milder phenotype levels of plasmalogens were significantly higher in erythrocytes than in the severe phenotype. Phytanic acid levels ranged from normal to severely increased, but had no relation with the neurological phenotype. Conclusion Neurodevelopmental deficits and age-related occurrence of seizures are characteristic of RCDP and are related to the rest-activity in plasmalogen biosynthesis. Evoked potential studies are more likely to become abnormal in the severe phenotype, but are of no predictive value in single cases of RCDP. PMID:24172221

  16. Genetics Home Reference: X-linked chondrodysplasia punctata 1

    MedlinePlus

    ... This condition is inherited in an X-linked recessive pattern . The gene associated with this condition is located on the ... Andria G, Meroni G, Parenti G. X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability. Am J Med ...

  17. An Atypical form Rhizomelic Chondrodysplasia Punctata in a Newborn

    PubMed Central

    Chatterjee, Sitangshu; Roy, Praytay; Das, Ira; Sinha, M. K.

    2013-01-01

    Rhizomelic Chondrodysplasia punctata (RCDP) is an autosomal recessive metabolic disorder affecting mainly peroxisomal function. We describe a case of RCDP in a 12 days old newborn based on the clinical and radiological ground without any major systemic structural or functional abnormalities. PMID:24049758

  18. An Atypical form Rhizomelic Chondrodysplasia Punctata in a Newborn.

    PubMed

    Chatterjee, Sitangshu; Roy, Praytay; Das, Ira; Sinha, M K

    2013-04-01

    Rhizomelic Chondrodysplasia punctata (RCDP) is an autosomal recessive metabolic disorder affecting mainly peroxisomal function. We describe a case of RCDP in a 12 days old newborn based on the clinical and radiological ground without any major systemic structural or functional abnormalities.

  19. Rhizomelic chondrodysplasia punctata with maternal systemic lupus erythromatosus.

    PubMed

    Roy, Amrita; De, Pranab; Chakraborty, Swapna

    2013-06-08

    We report Rhizomelic Chondrodysplasia Punctata (RDCP), a rare, autosomal recessive disorder with rhizomelic shortening of limbs, congenital cataracts and seizures but without any biochemical abnormality. The mother of the baby developed Systemic Lupus Erythromatosus (SLE) with Ro/SSA antibodies 11 months after delivery. Ro/SSA antibodies may generate calreticulin antibodies causing characteristic skeletal changes.

  20. Metaphysics in Education after Hutchins and Dewey.

    ERIC Educational Resources Information Center

    Arcilla, Rene Vincente

    1991-01-01

    The article discusses whether education should promote metaphysical questioning and speculation, noting the arguments of Robert Hutchins and John Dewey in the 1930s. It suggests that metaphysical questioning and meditative responses be part of education. (SM)

  1. Chondrodysplasia Punctata: A Case Report of Fetal Warfarin Syndrome.

    PubMed

    Songmen, S; Panta, O B; Paudel, S S; Ghimire, R K

    2017-01-01

    Chondrodysplasia punctata is abnormal calcification in the cartilage of developing bones and has been seen in association with deranged vitamin K metabolism. Warfarin, an oral anticoagulant acting on vitamin K dependent clotting factors is known to cause chondrodysplasia punctata. Despite the knowledge of the condition the management of patients with prosthetic heart valves might require use of the drug for anticoagulation. Here, we present a case of a fetal warfarin syndrome in a second born child of a 27 year lady under warfarin for prosthetic heart valve. The pregnancy was complicated by polyhydramnios in third trimester and terminated at term by normal vaginal delivery. The baby was well, except for facial dysmorphism in the form of depressed nasal bridge, narrow nares and suspected left choanal atresia. Radiograph revealed stippled ephiphysis of vertebra, femora and humera supporting diagnosis of fetal warfarin syndrome. The baby did not develop any perinatal complication and was discharged home.

  2. Brachytelephalangic chondrodysplasia punctata: prenatal diagnosis and postnatal outcome.

    PubMed

    Boulet, S; Dieterich, K; Althuser, M; Nugues, F; Durand, C; Charra, C; Schaal, J P; Jouk, P S

    2010-01-01

    We report the prenatal management of a brachytelephalangic chondrodysplasia punctata (CDPX1) case and how postnatal findings confirmed the diagnosis. The mother was initially referred after ultrasound revealed an abnormal fetal mid-face and punctuation of upper femoral epiphyses. Chondrodysplasia punctata (CP) with Binder anomaly was suspected. 3D-HCT revealed brachytelephalangy suggesting CDPX1. At birth, mid-face hypoplasia was marked. Postnatal imaging and genetic analysis confirmed the initial diagnosis. Binder anomaly is probably always associated with CP. The newly revised CP classification facilitates the diagnosis. The main etiologies are metabolic and chromosomal abnormalities, and arylsulfatase E enzyme dysfunction. Thus, screening for arylsulfatase E mutation is mandatory for an accurate diagnosis and can lead to better delineation among CP etiologies associated with a Binder phenotype. Copyright © 2010 S. Karger AG, Basel.

  3. Towards a Metaphysics of Complexity

    ERIC Educational Resources Information Center

    Robinson, Keith

    2005-01-01

    In this paper, I combine aspects of process philosophy and elements from philosophies of difference in order to give some indication of how we might begin to construct a metaphysics of contemporary science. I will focus on the work of Whitehead and Deleuze as representatives of each respective tradition and try to show how their work can be…

  4. Towards a Metaphysics of Complexity

    ERIC Educational Resources Information Center

    Robinson, Keith

    2005-01-01

    In this paper, I combine aspects of process philosophy and elements from philosophies of difference in order to give some indication of how we might begin to construct a metaphysics of contemporary science. I will focus on the work of Whitehead and Deleuze as representatives of each respective tradition and try to show how their work can be…

  5. Type 1 rhizomelic chondrodysplasia punctata with a homozygous PEX7 mutation.

    PubMed

    Muratoğlu Şahin, Nursel; Bilici, Meliha Esra; Kurnaz, Erdal; Pala Akdoğan, Melek; Ceylaner, Serdar; Aycan, Zehra

    2017-08-28

    Rhizomelic chondrodysplasia punctata (RCDP) is a rare peroxisomal disease characterised by punctate calcifications of non-ossified cartilage epiphyseal centres. The main biochemical marker of all RCDP types is a decrease in the levels of plasmalogens. Additionally, the accumulation of phytanic acid can be used as a differential marker between types of RDCP. Due to the biochemical overlap between types 1 and 5 RCDP, a genetic analysis of these genes should be performed in patients to identify the type. A 2-month-19-day-old male child presented with symptoms of limited movement and discomfort with movement in the extremities. His sister, who had similar clinical findings, was diagnosed with tetralogy of Fallot and died at 6 months of age. A physical examination revealed an atypical facial appearance, bilateral cataracts, sensitivity to touch in the extremities, shortness in the proximal segments of the long bones, limited movement in both knees and elbows and axial hypotonicity. Laboratory analyses revealed normal ammonia, lactate, plasma and urine amino acids, long chain fatty acids and phytanic acid levels. Rhizomelia, significant metaphyseal expansion, irregularities in the cortex, loss of ossification, fragmented appearance and punctate calcifications in both elbows, both knees and in the femoral epiphysis were seen on the skeletal survey. A homozygote p.L70W (c.209T>G) mutation was found in the PEX7 gene. Plasma phytanic acid levels can be normal in a patient with type 1 RCDP that develops as a result of a PEX7 gene mutation, as in our case. A molecular genetic analysis and/or fibroblast culture must be conducted in clinically suspicious cases. While no cardiac pathology was found in our case, tetralogy of Fallot was present in his sister with similar clinical findings. The presence of different cardiological phenotypes in the sibling suggested that the genotype-phenotype correlation may not be complete in this disorder.

  6. Maternal systemic lupus erythematosus and chondrodysplasia punctata in two sibs: phenocopy or coincidence?

    PubMed Central

    Elçioglu, N; Hall, C M

    1998-01-01

    Two sibs with chondrodysplasia punctata in whom the mother was suffering from systemic lupus erythematosus are presented and the radiological features described. Comparison with other forms of chondrodysplasia punctata with a review of the relevant publications is presented and the possible association with maternal systemic lupus erythematosus is highlighted. Images PMID:9719382

  7. Insights on activation enthalpy for non-Schmid slip in body-centered cubic metals

    DOE PAGES

    Hale, Lucas M.; Lim, Hojun; Zimmerman, Jonathan A.; ...

    2014-12-18

    We use insights gained from atomistic simulation to develop an activation enthalpy model for dislocation slip in body-centered cubic iron. Furthermore, using a classical potential that predicts dislocation core stabilities consistent with ab initio predictions, we quantify the non-Schmid stress-dependent effects of slip. The kink-pair activation enthalpy is evaluated and a model is identified as a function of the general stress state. Thus, our model enlarges the applicability of the classic Kocks activation enthalpy model to materials with non-Schmid behavior.

  8. Transhumanism, metaphysics, and the posthuman god.

    PubMed

    Bishop, Jeffrey P

    2010-12-01

    After describing Heidegger's critique of metaphysics as ontotheology, I unpack the metaphysical assumptions of several transhumanist philosophers. I claim that they deploy an ontology of power and that they also deploy a kind of theology, as Heidegger meant it. I also describe the way in which this metaphysics begets its own politics and ethics. In order to transcend the human condition, they must transgress the human.

  9. On Darwin's 'metaphysical notebooks'. II: "Metaphysics" and final cause.

    PubMed

    Calabi, L

    2001-01-01

    The first part of this paper was published in Rivista di Biologia/Biology Forum 94 (2001). In the second part below an examination is made of the meaning of the term Metaphysics in some passages of the Darwinian Notebooks for the years 1836-1844. Metaphysics no longer defines a field of philosophical enquiries mainly concerning the being and the essence after the manner of Aristotle; it now refers to a kind of philosophy of mind after the manner of J. Locke's criticism of the Hypokeimenon. However Aristotle's Metaphysics also encompasses a treatment of the idea of causes, and of final cause particularly, in the explanation of events, and in the explanation of natural phenomena especially. The criticism of the idea of final cause in the interpretation of the world of life is one of Darwin's foundational acts in his early years. When conceiving his Système du monde, in the last years of the XVIII Century, Laplace could think that God is a hypothesis not really needed by science, as we are told. For the knowledge of organic nature to attain the status of science, it remained to be shown that since--certain of the exemplariness of Newton's Principles as much as cautious before the mystery of life--did not need the hypothesis of final ends in order to understand and explain the productions of the living nature: not only in the form of that final cause (the First Cause, the Vera Causa) in which Natural Theology still rested, but also in the form of nature's inner finality which still moulded Whewell's Kantian philosophy. Such demonstration is a very important subject in Darwin's early enquiries, where he criticises finalism as a projection of self-conceiving Man, likely inherited from a knowing of causality in nuce to be found also in animals.

  10. Exploratory Bifactor Analysis: The Schmid-Leiman Orthogonalization and Jennrich-Bentler Analytic Rotations

    PubMed Central

    Mansolf, Maxwell; Reise, Steven P.

    2017-01-01

    Analytic bifactor rotations (Jennrich & Bentler, 2011, 2012) have been recently developed and made generally available, but are not well understood. The Jennrich-Bentler analytic bifactor rotations (bi-quartimin and bi-geomin) are an alternative to, and arguably an improvement upon, the less technically sophisticated Schmid-Leiman orthogonalization (Schmid & Leiman, 1957). We review the technical details that underlie the Schmid-Leiman and Jennrich-Bentler bifactor rotations, using simulated data structures to illustrate important features and limitations. For the Schmid-Leiman, we review the problem of inaccurate parameter estimates caused by the linear dependencies, sometimes called “proportionality constraints,” that are required to expand a p correlated factors solution into a (p+1) (bi)factor space. We also review the complexities involved when the data depart from perfect cluster structure (e.g., item cross-loading on group factors). For the Jennrich-Bentler rotations, we describe problems in parameter estimation caused by departures from perfect cluster structure. In addition, we illustrate the related problems of: (a) solutions that are not invariant under different starting values (i.e., local minima problems); and, (b) group factors collapsing onto the general factor. Recommendations are made for substantive researchers including examining all local minima and applying multiple exploratory techniques in an effort to identify an accurate model. PMID:27612521

  11. [Conradi-Hünermann Chondrodysplasia punctata: anaesthetic implications].

    PubMed

    Ventosa Fernández, G; Freire Vila, E; de la Iglesia López, A; Castro Aguiar, S

    2012-02-01

    Chondrodysplasia punctata syndrome is a group of rare congenital diseases that give rise to malformations, mainly skeletal, linked to the premature calcification of structures. There is little in the literature in the field of Anaesthesiology on this despite there being some clinical manifestations, particularly the possibility of difficult airway, which may be of importance during the peri-operative period. During the first years of life, the patients affected are often subjected to repeated surgery to correct their malformations. We describe the anaesthetic treatment during orthopaedic surgery of a paediatric patient with Conradi-Hünermann type chondrodysplasia punctata, highlighting the managementof the airway using a laryngeal mask in combination with balanced general anaesthesia with remifentanil. We also present a review of the characteristics of the different entities of these syndromes, with special emphasis on the aspects most relevant to the anaesthesiologist. Copyright © 2012 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Published by Elsevier España. All rights reserved.

  12. Dewey's Naturalistic Metaphysics: Expostulations and Replies

    ERIC Educational Resources Information Center

    Friedman, Randy L.

    2011-01-01

    Critics of Dewey's metaphysics point to his dismissal of any philosophy which locates ideals in a realm beyond experience. However, Dewey's sustained critique of dualistic philosophies is but a first step in his reconstruction and recovery of the function of the metaphysical. Detaching the discussion of values from inquiry, whether scientific,…

  13. Metaphysical Communication among Denominations: The Language Component.

    ERIC Educational Resources Information Center

    Benjamin, Robert L.

    Natural language does not lend itself well to discussing metaphysical concepts. It has certain expectations based on internalized rules of sense, reference, and predication that make it difficult if not impossible for laypeople or even ecclesiastical authorities to discuss God and theological concepts with others. Though metaphysics has survived…

  14. Dewey's Naturalistic Metaphysics: Expostulations and Replies

    ERIC Educational Resources Information Center

    Friedman, Randy L.

    2011-01-01

    Critics of Dewey's metaphysics point to his dismissal of any philosophy which locates ideals in a realm beyond experience. However, Dewey's sustained critique of dualistic philosophies is but a first step in his reconstruction and recovery of the function of the metaphysical. Detaching the discussion of values from inquiry, whether scientific,…

  15. Quantum entanglement and a metaphysics of relations

    NASA Astrophysics Data System (ADS)

    Esfeld, Michael

    This paper argues for a metaphysics of relations based on a characterization of quantum entanglement in terms of non-separability, thereby regarding entanglement as a sort of holism. By contrast to a radical metaphysics of relations, the position set out in this paper recognizes things that stand in the relations, but claims that, as far as the relations are concerned, there is no need for these things to have qualitative intrinsic properties underlying the relations. This position thus opposes a metaphysics of individual things that are characterized by intrinsic properties. A principal problem of the latter position is that it seems that we cannot gain any knowledge of these properties insofar as they are intrinsic. Against this background, the rationale behind a metaphysics of relations is to avoid a gap between epistemology and metaphysics.

  16. Exploring item and higher order factor structure with the Schmid-Leiman solution: syntax codes for SPSS and SAS.

    PubMed

    Wolff, Hans-Georg; Preising, Katja

    2005-02-01

    To ease the interpretation of higher order factor analysis, the direct relationships between variables and higher order factors may be calculated by the Schmid-Leiman solution (SLS; Schmid & Leiman, 1957). This simple transformation of higher order factor analysis orthogonalizes first-order and higher order factors and thereby allows the interpretation of the relative impact of factor levels on variables. The Schmid-Leiman solution may also be used to facilitate theorizing and scale development. The rationale for the procedure is presented, supplemented by syntax codes for SPSS and SAS, since the transformation is not part of most statistical programs. Syntax codes may also be downloaded from www.psychonomic.org/archive/.

  17. A rare lethal case of chondrodysplasia punctata with extensive airway involvement.

    PubMed

    Dewan, Pooja; Rai, Anuradha; Gupta, Natasha; Shah, Dheeraj; Faridi, M M A

    2012-06-01

    Stippled cartilaginous calcification, an important radiologic sign, is described as ''chondrodysplasia punctata'' when seen in association with limb shortening and maxillofacial hypoplasia. We report chondrodysplasia punctata in a male neonate who presented with limb shortening, midfacial hypoplasia, and laryngeal stenosis leading to death within a few minutes of birth. A post-mortem radiograph revealed generalized punctate calcification of cartilaginous structures, including airways, rib ends, spine, long bone epiphyses, tarsus and pinna, and brachytelephalangy.

  18. The Value Question in Metaphysics.

    PubMed

    Kahane, Guy

    2012-07-01

    Much seems to be at stake in metaphysical questions about, for example, God, free will or morality. One thing that could be at stake is the value of the universe we inhabit-how good or bad it is. We can think of competing philosophical positions as describing possibilities, ways the world might turn out to be, and to which value can be assigned. When, for example, people hope that God exists, or fear that we do not possess free will, they express attitudes towards these possibilities, attitudes that presuppose answers to questions about their comparative value. My aim in this paper is to distinguish these evaluative questions from related questions with which they can be confused, to identify structural constraints on their proper pursuit, and to address objections to their very coherence. Answers to such evaluative questions offer one measure of the importance of philosophical disputes.

  19. The Value Question in Metaphysics

    PubMed Central

    Kahane, Guy

    2012-01-01

    Much seems to be at stake in metaphysical questions about, for example, God, free will or morality. One thing that could be at stake is the value of the universe we inhabit—how good or bad it is. We can think of competing philosophical positions as describing possibilities, ways the world might turn out to be, and to which value can be assigned. When, for example, people hope that God exists, or fear that we do not possess free will, they express attitudes towards these possibilities, attitudes that presuppose answers to questions about their comparative value. My aim in this paper is to distinguish these evaluative questions from related questions with which they can be confused, to identify structural constraints on their proper pursuit, and to address objections to their very coherence. Answers to such evaluative questions offer one measure of the importance of philosophical disputes. PMID:23024399

  20. The Role of Metaphysical Naturalism in Science

    NASA Astrophysics Data System (ADS)

    Mahner, Martin

    2012-10-01

    This paper defends the view that metaphysical naturalism is a constitutive ontological principle of science in that the general empirical methods of science, such as observation, measurement and experiment, and thus the very production of empirical evidence, presuppose a no-supernature principle. It examines the consequences of metaphysical naturalism for the testability of supernatural claims, and it argues that explanations involving supernatural entities are pseudo-explanatory due to the many semantic and ontological problems of supernatural concepts. The paper also addresses the controversy about metaphysical versus methodological naturalism.

  1. Metaphysics and medical ethics: a reply.

    PubMed Central

    Gillett, G

    1994-01-01

    The total longitudinal form view of human beings is a metaphysical view which aims to locate our moral judgements about human embryos in a broader set of attitudes and characterisations. On this basis it has explanatory power and a real function in that it grounds our ethical discussion of embryos in other discourses. Contra Leavitt, this grounding suggests a broader criterion of relevance for metaphysical discussion than asking 'what comes out of' such a discussion for a particular ethical dilemma. PMID:8035442

  2. A proper metaphysics for cognitive performance.

    PubMed

    Van Orden, Guy C; Moreno, Miguel A; Holden, John G

    2003-01-01

    The general failure to individuate component causes in cognitive performance suggests the need for an alternative metaphysics. The metaphysics of control hierarchy theory accommodates the fact of self-organization in nature and the possibility that intentional actions are self-organized. One key assumption is that interactions among processes dominate their intrinsic dynamics. Scaling relations in response time variability motivate this assumption in cognitive performance.

  3. An extremely rare case: osteosclerotic metaphyseal dysplasia.

    PubMed

    Kasapkara, C S; Küçükçongar, A; Boyunağa, O; Bedir, T; Oncü, F; Hasanoğlu, A; Tümer, L

    2013-01-01

    OMD (osteosclerotic metaphyseal dysplasia) is a very rare sclerosing bone disorder, first described by G. Nishimura in two Japanese siblings in 1993 (6). We report the case of a 12-month-old male with hypotonia, developmental delay and sclerosis of the metaphyses and epiphyses of specific bones. This 36-week gestation boy was born to a 26 year old gravida 5 para 1 Turkish mother and a 27 year old nonconsanguineous father. Radiographic findings obtained during the hospital stay included bilateral symmetrical osteosclerosis of the metaphyseal portions of the long bones in the upper and lower extremities with osteopenic shafts. Narrow bands of metaphyseal osteosclerosis were detected in the short tubular bones of the hands and feet. Growing parts of bilateral scapula, iliac, pubic and ischial bones show sclerotic bands. In addition superior and inferior plates of vertebras, transverse processes of sacral vertebras, all visible epiphyses, carpal and tarsal bones also show sclerotic changes. The scalp was unaffected. Based on the clinical, radiographic, and laboratory findings, a diagnosis of OMD was made. We do not know any of the osteosclerotic bone disorder with changes including hypotonia, mental and motor developmental delay and metaphyseal sclerosis of the bones with a unique distribution except OMD. The syndrome is characterized by developmental delay of a progressive nature, hypotonia, elevated alkaline phosphatase, and late-onset spastic paraplegia 18 years ago. Our patient is the 4th case of OMD described in the literature share some clinical and radiological similarities with other three reported cases of osteosclerotic metaphyseal dysplasias.

  4. [Peroxisomal disorder, rhizomelyc chondrodysplasia punctata type 1: case report].

    PubMed

    González-Ortiz, Cesar Leonardo; Jaimes Leguizamón, Sandra Bibiana; Contreras-García, Gustavo Adolfo

    2017-01-01

    Peroxisomal diseases are a group of monogenic disorders that include defects in peroxisome biogenesis or enzyme dificiencies. Rhizomelic chondrodysplasia punctata type 1 (RCDP1) belongs to the first group, caused by autosomal recessive mutations on PEX7 gene, encoding for PTS2 receptor. The aims of this report are to describe a genetic disease of low prevalence, explaining its main characteristics and the importance of the diagnostic approach and genetic counseling. 13-month-old male infant with no medical history, family or consanguinity, demonstrate at birth upper limbs shortening. Surgery intervention at seven months old for bilateral cataract. Growth retardation, psychomotor retardation, minor craniofacial anomalies, rhyzomelic shortened upper limbs and lower limbs lesser degree. Punctata calcifications in patella cartilage. Also fatty acid phytanic and pristanic increased levels. Patient dead at age of 3 years. RCDP1 is a rare disease, with a prevalence of 1/100,000. Different mutations of PEX7 gene have been described, with variations in phenotype. The treatment is basically symptomatic and depends on the severity of clinical manifestations. The rhizomelic type has poor prognosis, most patients do not survive before the first decade of live. Genetic counseling is essential because it is consider a 25% risk of recurrence.

  5. Growth charts for individuals with rhizomelic chondrodysplasia punctata.

    PubMed

    Duker, Angela L; Niiler, Tim; Eldridge, Grant; Brereton, Nga H; Braverman, Nancy E; Bober, Michael B

    2017-01-01

    Rhizomelic chondrodysplasia punctata (RCDP) is a class of peroxisomal disorders characterized by defective plasmalogen biosynthesis. There are multiple recognized types of RCDP, all of which have autosomal recessive inheritance, and their associated genes are known: RCDP type 1 with PEX7, RCDP type 2 with GNPAT, RCDP type 3 with AGPS, RCDP type 4 with FAR1, and RCDP type 5 with PEX5. Among other medical/developmental issues, plasmalogen deficiency has a direct effect on bone growth and results in postnatal growth failure, the severity of which corresponds to the degree of plasmalogen deficiency. In order to document growth in patients with RCDP, we present detailed growth curves for length, weight, and head circumference derived from retrospective data from 23 individuals with RCDP types 1 and 2 confirmed by molecular and/or biochemical studies. We stratified growth curves by age as well as by plasmalogen level, with those with higher plasmalogens grouped as "non-classic." The growth charts presented here provide guidance to families and physician caretakers on the natural course of growth in individuals with RCDP during infancy into early childhood, and thus will have particular utility in setting expectations and guiding optimal feeding interventions in this population.© 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  6. Chondrodysplasia punctata and maternal autoimmune disease: a new case and review of the literature.

    PubMed

    Shanske, Alan L; Bernstein, Larry; Herzog, Ronit

    2007-08-01

    Classic rhizomelic chondrodysplasia punctata is a rare, autosomal, recessively inherited disorder that is characterized by proximal shortening of the limbs, punctuate calcifications of the epiphyses, cataracts, developmental delay, and early lethality. A distinctive biochemical profile is characteristic for each of the several defects of peroxisomal metabolism. Recently, cases have been described that were not associated with peroxisomal dysfunction. These cases were found to be secondary to teratogen exposure or maternal conditions. Since 1993, there have been 9 reported cases of neonates with rhizomelic chondrodysplasia punctata who were born to mothers with connective tissue disease. We followed a newborn boy with features suggestive of rhizomelic chondrodysplasia punctata whose biochemical studies failed to demonstrate a defect in either plasmalogen or cholesterol biosynthesis. His mother developed systemic lupus erythematosus 8 months after delivery. This case is compared with the previously reported 9 cases from the literature and is instructive in demonstrating a lesser known effect of maternal autoantibodies on the fetus.

  7. Mechanisms, determination and the metaphysics of neuroscience.

    PubMed

    Soom, Patrice

    2012-09-01

    In this paper, I evaluate recently defended mechanistic accounts of the unity of neuroscience from a metaphysical point of view. Considering the mechanistic framework in general (Sections 2 and 3), I argue that explanations of this kind are essentially reductive (Section 4). The reductive character of mechanistic explanations provides a sufficiency criterion, according to which the mechanism underlying a certain phenomenon is sufficient for the latter. Thus, the concept of supervenience can be used in order to describe the relation between mechanisms and phenomena (Section 5). Against this background, I show that the mechanistic framework is subject to the causal exclusion problem and faces the classical metaphysical options when it comes to the relations obtaining between different levels of mechanisms (Section 6). Finally, an attempt to improve the metaphysics of mechanisms is made (Section 7) and further difficulties are pointed out (Section 8). Copyright © 2012 Elsevier Ltd. All rights reserved.

  8. Metaphyseal osteopathy in a British Shorthair cat.

    PubMed

    Adagra, Carl; Spielman, Derek; Adagra, Angela; Foster, Darren J

    2015-04-01

    Metaphyseal osteopathy, otherwise known as hypertrophic osteodystrophy, is a disease that causes pyrexia and lethargy accompanied by pain in the thoracic and pelvic limbs of rapidly growing large-breed dogs. While metaphyseal osteopathy has been descibed in association with slipped capital femoral epiphysis in cats, it has not previously been reported as a cause of limb pain and pyrexia in this species. A 7-month-old British Shorthair cat presented with a 1 month history of pyrexia, lethargy and pain in all limbs. Investigation included radiographs of the limbs and chest, abdominal ultrasound, serum biochemical analysis, haematology, bone biopsy, joint fluid aspiration and cytology. Findings were consistent with a diagnosis of metaphyseal osteopathy. The cat's clinical signs resolved following the administration of prednisolone. Symptoms recurred 1 month after the cessation of prednisolone therapy, but resolved when administration was resumed.

  9. Greene's Dialectics of Freedom and Dewey's Naturalistic Existential Metaphysics.

    ERIC Educational Resources Information Center

    Garrison, James W.

    1990-01-01

    This article attempts to develop the Deweyan naturalistic existential metaphysics which underlies Maxine Greene's diverse dialectics. Also included are reflections on the implications of the dialectic of freedom and Dewey's metaphysics for education and the arts. (IAH)

  10. [On the quest for the right way--life and work of Magnus Schmid (1918-1977), historian of medicine].

    PubMed

    Mildenberger, Florian

    2008-01-01

    Magnus Schmid seems to have been an "ordinary historian of medicine" from 1950 to 1977 in Munich and Erlangen. Following his death he became forgotten by his colleagues. But despite the fact, that he did not publish great books, he modernized the subject and was open to new interpretations of history of medicine and to intercultural views on history. For more than 20 years he seemed to be a quite liberal researcher, but following the changes in society after the 1968/69 revolt, he became a fighter for a new conservatism. Schmid was unwilling to accept that people decided freely about their body and health, without consulting doctors like him while he believed in an unchangeable foundation of ethics in medicine (e. g. abortion). So Schmid, in the last years of his life to the fact, made his valuable scientific works disappear behind his dubious campaigning against the modernized western German society.

  11. Compliance to Schmid's law in the stress anomaly regime of binary stoichiometric Ni{sub 3}Al

    SciTech Connect

    Hirano, T.; Demura, M.; Golberg, D.

    1999-09-29

    Using single crystals of binary stoichiometric Ni{sub 3}Al, the orientation dependence of the critical resolved shear stress (CRSS) for {l{underscore}brace}111{r{underscore}brace}{l{underscore}angle}{bar 1}01{r{underscore}angle} slip and the tension/compression (T/C) asymmetry were studied in the yield stress anomaly regime. Unlike the case in ternary alloys, it was found that Schmid's law holds and the T/C asymmetry vanishes in stoichiometric Ni{sub 3}Al. This indicates that plastic deformation occurs according to Schmid's law in the highly ordered state. Also, the violation of Schmid's law and the T/C asymmetry, which were believed to be inherent to the stress anomaly so far, are considered to be additional effects due to the anti-site defects or specific ternary elements. The results are consistent with the idea that the CRSS is controlled by the dislocation multiplication in (111).

  12. Maternal Mixed Connective Tissue Disease and Offspring with Chondrodysplasia Punctata

    PubMed Central

    Schulz, Steffan W.; Bober, Michael; Johnson, Caitlyn; Braverman, Nancy; Jimenez, Sergio A.

    2009-01-01

    Chondrodysplasia punctata (CDP) comprises a heterogeneous group of disorders that result in abnormal development of the fetal skeleton. The hallmark of the condition is radiographic presence of abnormal islands of calcification in areas of endochondral bone formation associated with premature closure of growth plates. Recently, several cases have been described in infants born to mothers with systemic lupus erythematosus (SLE). Objectives To describe the case of a mother with mixed connective tissue disease (MCTD) whose male and female offspring from two successive pregnancies had CDP in the absence of identifiable biochemical or genetic abnormalities or teratogen exposure. Methods Description of a male and female offspring from a mother with MCTD harboring high titer anti-RNP antibodies. Maternal autoantibody assays were performed employing quantitative multiplex suspension arrays and flow cytometry, and autoantibody titer and pattern were determined by indirect immunofluorescence. Assays of phytanic acid, plasmalogen and very long chain fatty acids were performed employing commercially available reagents. Chromosomal analysis was performed on both offspring employing standard cytogenetic analysis. Review of the relevant literature was performed (PubMed search 1966 through July 2008). Results Two children with CDP born to a mother with MCTD who harbored anti-RNP autoantibodies at high titer are described. Genetic and chromosomal studies, and biochemical analysis of peroxisome function and very long chain fatty acids excluded known biochemical or genetic defects or mutations as the cause of CDP in these children. Furthermore, detailed review of the clinical history failed to disclose any evidence of maternal teratogen exposure during the two pregnancies. Conclusions Maternal MCTD is the most likely explanation for the occurrence of CDP in the two children reported here. Review of previously published cases of CDP associated with autoimmune disease suggests that

  13. Cervical Spine Deformities in Children With Rhizomelic Chondrodysplasia Punctata.

    PubMed

    Abousamra, Oussama; Kandula, Vinay; Duker, Angela L; Rogers, Kenneth J; Bober, Michael B; Mackenzie, William G

    2017-06-13

    Cervical spine deformity in rhizomelic chondrodysplasia punctata (RCDP) has been described with different findings reported in the literature. However, available literature provides limited data from a few cases with magnetic resonance imaging (MRI) of the cervical spine. Our report describes the MRI findings in a group of children with RCDP, aiming to reach a better understanding of this pathology. An Institutional Review Board-approved RCDP Registry was created at our institution with the goal of identifying pertinent medical issues over the lifespan of individuals with RCDP. Records of children within the registry were evaluated, and magnetic resonance images obtained between 2004 and 2015, were available for review. The levels of spinal canal stenosis were recorded and the severity of the stenosis was decided based on adults' parameters. Cord compression and myelomalacia were confirmed on the axial images. Sagittal lumbar spine magnetic resonance images were also evaluated when available, and the presence of tethered cord and fatty filum was recorded. Twenty-six children (15 boys and 11 girls) were identified in the RCDP Registry. Eleven children (6 boys and 5 girls) had sagittal MRI of the cervical spine available for review. Age at the time of MRI study was variable (1 wk to 32 mo). All patients except 1 had stenosis of the cervical spinal canal. Myelomalacia of the cord was noted only in this patient. This study suggests that, in children with RCDP, cervical spinal stenosis and cord compression are a real risk, and children with this diagnosis should have monitoring for these issues. Tethered cord is also a possible finding that needs to be evaluated. Full sagittal spine MRI is necessary to detect the possible deformities at the cervical and lumbar levels.

  14. Metaphysical Beliefs as Predictors of Death Anxiety.

    ERIC Educational Resources Information Center

    Naidu, R. K.; Sinha, Ambalika

    1992-01-01

    Investigated impact of four metaphysical beliefs (existence of God, attributes of God, afterlife, consequences of suffering) on death anxiety. Householders (n=120), one-half of whom lived in high exposure to death sight areas, responded to pictures depicting death and nondeath scenes to measure death anxiety. Subjects from low exposure areas…

  15. Audism: Exploring the Metaphysics of Oppression

    ERIC Educational Resources Information Center

    Bauman, H-Dirksen L.

    2004-01-01

    This article traces the development of the concept of "audism" from its inception in the mid-1970s by exploring three distinct dimensions of oppression: individual, institutional, and metaphysical. Although the first two aspects of audism have been identified, there is a deeply rooted belief system regarding language and human identity that is yet…

  16. The Role of Metaphysical Naturalism in Science

    ERIC Educational Resources Information Center

    Mahner, Martin

    2012-01-01

    This paper defends the view that metaphysical naturalism is a constitutive ontological principle of science in that the general empirical methods of science, such as observation, measurement and experiment, and thus the very production of empirical evidence, presuppose a no-supernature principle. It examines the consequences of metaphysical…

  17. The Role of Metaphysical Naturalism in Science

    ERIC Educational Resources Information Center

    Mahner, Martin

    2012-01-01

    This paper defends the view that metaphysical naturalism is a constitutive ontological principle of science in that the general empirical methods of science, such as observation, measurement and experiment, and thus the very production of empirical evidence, presuppose a no-supernature principle. It examines the consequences of metaphysical…

  18. Stylistics and the Metaphysics of Poetry

    ERIC Educational Resources Information Center

    Anderson, Neil

    2007-01-01

    In order to better understand the worth of aesthetic experience in encountering poetry, fresh perspectives are helpful. This paper introduces the reader to modern stylistics: that is linguistic examinations of "the speaker's meaning" in literature and notes such "scientific" approaches to poetry do find common metaphysical ground with leading…

  19. A lethal skeletal dysplasia with generalised sclerosis and advanced skeletal maturation: Blomstrand chondrodysplasia?

    PubMed Central

    Young, I D; Zuccollo, J M; Broderick, N J

    1993-01-01

    The clinical and radiological features in a baby thought to have Blomstrand chondrodysplasia are presented. The hallmarks of this rare lethal disorder are an increase in bone density and advanced skeletal maturation. A high incidence of parental consanguinity is consistent with autosomal recessive inheritance. Images PMID:8445622

  20. Determination of death: Metaphysical and biomedical discourse.

    PubMed

    Jakušovaitė, Irayda; Luneckaitė, Žydrunė; Peičius, Eimantas; Bagdonaitė, Živilė; Riklikienė, Olga; Stankevičius, Edgaras

    2016-01-01

    The prominence of biomedical criteria relying on brain death reduces the impact of metaphysical, anthropological, psychosocial, cultural, religious, and legal aspects disclosing the real value and essence of human life. The aim of this literature review is to discuss metaphysical and biomedical approaches toward death and their complimentary relationship in the determination of death. A critical appraisal of theoretical and scientific evidence and legal documents supported analytical discourse. In the metaphysical discourse of death, two main questions about what human death is and how to determine the fact of death clearly separate the ontological and epistemological aspects of death. During the 20th century, various understandings of human death distinguished two different approaches toward the human: the human is a subject of activities or a subject of the human being. Extinction of the difference between the entities and the being, emphasized as rational-logical instrumentation, is not sufficient to understand death thoroughly. Biological criteria of death are associated with biological features and irreversible loss of certain cognitive capabilities. Debating on the question "Does a brain death mean death of a human being?" two approaches are considering: the body-centrist and the mind-centrist. By bridging those two alternatives human death appears not only as biomedical, but also as metaphysical phenomenon. It was summarized that a predominance of clinical criteria for determination of death in practice leads to medicalization of death and limits the holistic perspective toward individual's death. Therefore, the balance of metaphysical and biomedical approaches toward death and its determination would decrease the medicalization of the concept of death.

  1. The place of metaphysics in the historiography of science

    NASA Astrophysics Data System (ADS)

    Agassi, Joseph

    1996-04-01

    Legitimating the use of metaphysics in scientific research constituted a farreaching methodological revolution, invalidating the inductivist demands that science be guided by empirical information alone. Thus, science became tentative. The revolution was established when pioneering historians of science, Max Jammer among them, exhibited the working of metaphysics in scientific research. This raises many problems, since most metaphysical ideas are poor as compared with scientific ones. Yet taking science to be the effort to explain facts in a comprehensive manner, makes some metaphysics unavoidable, and presents the better metaphysics as the possible frameworks within which older scientific theories may be reinterpreted and improved and newer ones may be developed.

  2. Investigating the Hierarchical Factor Structure of the Fifth Edition of the 16PF: An Application of the Schmid-Leiman Orthogonalization Procedure.

    ERIC Educational Resources Information Center

    Chernyshenko, Oleksandr S.; Stark, Stephen; Chan, Kim Yin

    2001-01-01

    Studied the unidimensionality of the 16 noncognitive scales of the Sixteen Personality Factor Questionnaire (16PF) and the hierarchical factor structure of the inventory. Results using the Schmid Leiman orthogonalization procedure (J. Schmid and J. Leiman, 1957) showed that the noncognitive multi-item composites could be factored into 16…

  3. Exploratory Bifactor Analysis of the WJ-III Cognitive in Adulthood via the Schmid-Leiman Procedure

    ERIC Educational Resources Information Center

    Dombrowski, Stefan C.

    2014-01-01

    The Woodcock-Johnson-III cognitive in the adult time period (age 20 to 90 plus) was analyzed using exploratory bifactor analysis via the Schmid-Leiman orthogonalization procedure. The results of this study suggested possible overfactoring, a different factor structure from that posited in the Technical Manual and a lack of invariance across both…

  4. Exploratory Bifactor Analysis of the WJ-III Cognitive in Adulthood via the Schmid-Leiman Procedure

    ERIC Educational Resources Information Center

    Dombrowski, Stefan C.

    2014-01-01

    The Woodcock-Johnson-III cognitive in the adult time period (age 20 to 90 plus) was analyzed using exploratory bifactor analysis via the Schmid-Leiman orthogonalization procedure. The results of this study suggested possible overfactoring, a different factor structure from that posited in the Technical Manual and a lack of invariance across both…

  5. Challenges of spine surgery in patients with chondrodysplasia punctata.

    PubMed

    Lykissas, Marios G; Sturm, Peter F; McClung, Anna; Sucato, Daniel J; Riordan, Mary; Hammerberg, Kim W

    2013-01-01

    Chondrodysplasia punctata (CDP) is a common manifestation of an etiologically heterogenous group of disorders. There is very little data regarding the development and management of spinal deformity in patients with CDP. The purpose of this study was to present a multicenter series of CDP, to describe the surgical outcomes of spinal deformities in CDP patients and to emphasize important considerations that may influence choice of surgical treatment of spinal deformity in this patient population. The medical records and spinal radiographs of patients with the diagnosis of CDP followed in 2 centers between 1975 and 2011 were retrospectively reviewed. Epiphyseal stippling was present on radiographs in all patients who fulfilled the clinical criteria. Among the 17 patients who were diagnosed with CDP, 13 had spinal deformities. The mean age at diagnosis of spinal deformity was 14.6 months (range, 1 wk to 9 y). Males and females were close to equally represented (10 males and 7 females). Twelve patients (92%) required surgery to correct spinal deformity. Patients were followed for a median of 8.4 years (range, 2.8 to 19.5 y). The total number of surgical procedures performed was 17 averaging 1.5 per patient. Four patients required >1 procedure. Eighty percent of the patients who required >1 surgical procedure were females with probable diagnosis of X-linked dominant CDP. Revision surgery was indicated in 50% of the patients treated with combined anterior and posterior fusion and 20% of the patients treated with posterior fusion alone. Spinal deformity in CPD patients may range from significant kyphoscoliosis to minimal deformity that does not require any treatment. For those patients in whom spine surgery was indicated, a high incidence of revision surgery and curve progression after fusion was recorded. Female patients with probable diagnosis of X-linked dominant CDP were more likely to require a second surgical procedure. Isolated posterior fusion showed less favorable

  6. Surgical management of cervical spine deformity in chondrodysplasia punctata.

    PubMed

    Morota, Nobuhito; Ihara, Satoshi; Ogiwara, Hideki; Tamura, Goichiro

    2017-08-11

    OBJECTIVE Chondrodysplasia punctata (CDP), a rare skeletal dysplasia, can lead to cervical spine instability and deformity. However, an optimal neurosurgical intervention has yet to be established. Thus, a retrospective study was conducted to assess the efficacy of various surgical interventions for children with CDP. METHODS The authors retrospectively reviewed 9 cases of CDP in which cervical decompression with or without posterior fusion was performed between April 2007 and May 2016. Patient demographics, preoperative clinical conditions, radiographic findings, surgical procedures, and the postoperative course were analyzed in detail. RESULTS A total of 12 operations were carried out in 9 patients (8 male, 1 female) during the study period. The patients' ages at the initial surgery ranged from 2 months to 2 years. Seven of the children had CDPX1, 1 had CDPX2, and 1 had tibia-metacarpal type CDP (CDP-TM). The lesion occurred at the craniovertebral junction (CVJ) in 7 cases and involved a subaxial deformity in 2 cases. The initial surgery was C-1 laminectomy with occipitocervical fusion (OCF) followed by halo external fixation in 5 cases, OCF alone in 1 case, and C-1 laminectomy alone in 3 cases. Three children required additional surgery. In one of these cases, a staged operation was required because the patient's head was too small to attach a halo ring at the time of the initial procedure (C-1 laminectomy). In another case, OCF was performed 11 months after C-1 laminectomy because of intramedullary signal change on serial MRI, although the child remained asymptomatic. In the third case, additional posterior fusion was performed 17 months after an initial laminectomy and OCF due to newly developed cervical dislocation caudal to the original fusion. This last patient required a third operation 9 months after the second because of deep wound infection. Surgery improved the motor function of all 7 children with CDPX1, but 3 children who had already suffered

  7. The many Metaphysics within Physics. Essay review of 'The Metaphysics within Physics' by Tim Maudlin

    NASA Astrophysics Data System (ADS)

    Suárez, Mauricio

    Tim Maudlin's new book The Metaphysics within Physics (Oxford University Press, 2007) collects six essays by one of the most thoughtful and original minds working in the philosophy of physics nowadays. Some had previously circulated informally for years. For example, Chapter 1 ('A Modest Proposal Concerning Laws, Counterfactuals and Explanations') is as old as my own philosophical career-I recall reading a draft in the early 1990s. The mere publication of such a long-awaited collection is therefore already good news. In addition, the degree of coherence and the lack of redundancy are greater than one would expect from a collection of disparate essays written at diverse times and with a range of different targets. The whole book can be understood coherently as an extended argument in favor of a particular 'physics-based' methodology for inquiry in metaphysics. This methodology recommends a detailed and thorough analysis of current physics as a benchmark for any thesis, dispute or argument in metaphysics. It follows that proper metaphysical inquiry must be suitably informed not just about the current state of play in analytical metaphysics but also about the current state of development of the relevant part of present day physics.

  8. Metaphysics and medical education: taking holism seriously.

    PubMed

    Wilson, Bruce

    2013-06-01

    Medical education is now suffused with concepts that have their source outside the traditional scientific and medical disciplines: concepts such as holism, connectedness and reflective practice. Teaching of these, and other problematic concepts such as medical uncertainty and error, has been defined more by the challenge they pose to the standard model rather than being informed by a strong positive understanding. This challenge typically involves a critical engagement with the idea of objectivity, which is rarely acknowledged as an inherently metaphysical critique. Consequently, these ideas prove to be difficult to teach well. I suggest that the lack of an integrating, positive narrative is the reason for teaching difficulty, and propose that what is needed is an explicit commitment to teach the metaphysics of medicine, with the concept of holism being the fulcrum on which the remaining concepts turn. An acknowledged metaphysical narrative will encompass the scientific realism that medical students typically bring to their tertiary education, and at the same time enable a bigger picture to be drawn that puts the newer and more problematic concepts into context. © 2013 John Wiley & Sons Ltd.

  9. Phosphorylation of human plasma alpha2-Heremans-Schmid glycoprotein (human fetuin) in vivo.

    PubMed Central

    Haglund , A C; Ek, B; Ek, P

    2001-01-01

    A fraction of alpha2-Heremans-Schmid (alpha2-HS) glycoprotein (human fetuin) isolated from plasma was phosphorylated at serine-120 and serine-312 as shown by MS and peptide fragment sequencing after tryptic digestion. Serine-312-containing peptides were phosphorylated to 77% as determined from relative peak heights in the mass spectrum, which together with the phosphorylation of serine-120 implies a molar degree of phosphorylation of at least 1. Approximately 20% of the circulating fetuin plasma pool was phosphorylated to approx. 1 mol of phosphate/mol of protein. The remainder did not contain phosphate, resulting in an average phosphorylation degree for the protein in plasma of approx. 0.2 mol/mol. The isolated alpha2-HS glycoprotein was a heterodimer in which the entire C-terminal part of the connecting peptide including threonine-321 was present, but traces of C-terminally trimmed connecting peptide fragments were also found. The short B-chain was O-glycosylated to approx. 40%, whereas the N-glycosylation of asparagine-138 and asparagine-158 seemed to be 100%. This finding, for the first time, that circulating human plasma fetuin is partly phosphorylated, implies that the effects of phosphorylated alpha2-HS glycoprotein on insulin signal transduction seen in different cell systems could be relevant to its physiological function in vivo. PMID:11439093

  10. Calcification and airway stenosis in a child with chondrodysplasia calcificans punctata

    PubMed Central

    Goussard, Pierre; Andronikou, Savvas; Semakula-Katende, Namakula S; Gie, Robert

    2014-01-01

    Calcification of the airways is rarely seen in children. A male baby was born at 34 weeks with severe respiratory distress. Intubation was difficult with severe hypercarbia after intubation. Chest radiography demonstrated calcification in the tracheobronchial tree and this was confirmed with Chest CT scan. Flexible bronchoscopy confirmed long-segment funnel tracheal stenosis with visible calcifications in the trachea and bronchi. Chondrodysplasia punctata was diagnosed based on the clinical and radiological findings. PMID:25246461

  11. Calcification and airway stenosis in a child with chondrodysplasia calcificans punctata.

    PubMed

    Goussard, Pierre; Andronikou, Savvas; Semakula-Katende, Namakula S; Gie, Robert

    2014-09-22

    Calcification of the airways is rarely seen in children. A male baby was born at 34 weeks with severe respiratory distress. Intubation was difficult with severe hypercarbia after intubation. Chest radiography demonstrated calcification in the tracheobronchial tree and this was confirmed with Chest CT scan. Flexible bronchoscopy confirmed long-segment funnel tracheal stenosis with visible calcifications in the trachea and bronchi. Chondrodysplasia punctata was diagnosed based on the clinical and radiological findings. 2014 BMJ Publishing Group Ltd.

  12. Neonatal lupus syndrome: a case with chondrodysplasia punctata and other unusual manifestations.

    PubMed Central

    Austin-Ward, E; Castillo, S; Cuchacovich, M; Espinoza, A; Cofré-Beca, J; González, S; Solivelles, X; Bloomfield, J

    1998-01-01

    We report a case of a newborn infant whose mother had systemic lupus erythematosus (SLE) diagnosed before pregnancy. The child had clinical manifestations of neonatal lupus as well as chondrodysplasia punctata and other findings that resemble the congenital anomalies associated with the use of oral anticoagulants, with no history of exposure. We speculate that the combined action of the different maternal autoantibodies may produce the whole spectrum of manifestations. Images PMID:9719383

  13. Type II collagen defects in the chondrodysplasias. I. Spondyloepiphyseal dysplasias.

    PubMed Central

    Murray, L W; Bautista, J; James, P L; Rimoin, D L

    1989-01-01

    The spondyloepiphyseal dysplasias (SEDs) and spondyloepimetaphyseal dysplasias (SEMDs) are a heterogeneous group of skeletal dysplasias (dwarfing disorders) characterized by abnormal epiphyses, with and without varying degrees of metaphyseal irregularities, flattened vertebral bodies, and myopia. To better define the underlying cause of these disorders, we have analyzed the collagens from costal cartilage from several of these patients, using SDS-polyacrylamide gel electrophoresis (SDS-PAGE) and high-performance liquid chromatography (HPLC) of intact chains and cyanogen bromide (CNBr) peptides and amino acid analysis. In almost all of the patients in this study group, the type II collagen exhibited a slower electrophoretic mobility when compared with that in normal controls. The mobility of many, but not all, of the CNBr peptides was also retarded. Peptides near the amino terminus were almost always altered, while the mobility of peptides close to the carboxyl terminus were normal in all but the severely affected cases. Analysis of the CNBr peptides on an HPLC sieving column confirmed that the electrophoretically abnormal peptides were of a higher molecular weight than were control peptides. Amino acid analysis indicated that the abnormal collagens have a higher ratio of hydroxylysine to lysine than does control collagen, suggesting that overmodification may be involved in the altered mobility. Our results are consistent with a defect in the collagen helix that results in overmodification of the molecule from that point toward the amino terminus. We propose that some forms of SED and SEMD are associated with abnormalities in type II collagen that results in delayed helix formation and consequent overmodification of the collagen. Cases of SED fit onto a continuous spectrum of clinical severity that correlates positively with both the extent of alteration and the proximity of the defect to the carboxyl terminus. Images Figure 1 Figure 2 PMID:2741952

  14. Systematics of the Neotropical caddisfly genus Notidobiella Schmid (Trichoptera, Sericostomatidae), with the description of 3 new species.

    PubMed

    Holzenthal, Ralph W; Blahnik, Roger J

    2010-12-14

    Three new species of Notidobiella Schmid (Insecta: Trichoptera) are described from South America: Notidobiella amazonianasp. n. (Brazil), Notidobiella brasilianasp. n. (Brazil), and Notidobiella ecuadorensissp. n. (Ecuador). In addition, the 3 previously described species in the genus, Notidobiella chacayana Schmid, Notidobiella inermis Flint, and Notidobiella parallelipipeda Schmid, all endemic to southern Chile, are redescribed and illustrated, including the females of each species for the first time, and a key to males of the species in the genus is provided. The occurrence of Notidobiella in Brazil and Ecuador represents a significant extension of the range of the genus beyond southern Chile where it previously was thought to be endemic. The biogeography of Sericostomatidae and other austral South American Trichoptera is reviewed. The presence of the family in South America may not be part of a "transantarctic" exchange, but instead may represent an earlier occurence in the region. The distribution of Notidobiella in tropical South America likely represents recent dispersal from southern South America to the north.

  15. Systematics of the Neotropical caddisfly genus Notidobiella Schmid (Trichoptera, Sericostomatidae), with the description of 3 new species

    PubMed Central

    Holzenthal, Ralph W.; Blahnik, Roger J.

    2010-01-01

    Abstract Three new species of Notidobiella Schmid (Insecta: Trichoptera) are described from South America: Notidobiella amazoniana sp. n. (Brazil), Notidobiella brasiliana sp. n. (Brazil), and Notidobiella ecuadorensis sp. n. (Ecuador). In addition, the 3 previously described species in the genus, Notidobiella chacayana Schmid, Notidobiella inermis Flint, and Notidobiella parallelipipeda Schmid, all endemic to southern Chile, are redescribed and illustrated, including the females of each species for the first time, and a key to males of the species in the genus is provided. The occurrence of Notidobiella in Brazil and Ecuador represents a significant extension of the range of the genus beyond southern Chile where it previously was thought to be endemic. The biogeography of Sericostomatidae and other austral South American Trichoptera is reviewed. The presence of the family in South America may not be part of a “transantarctic” exchange, but instead may represent an earlier occurence in the region. The distribution of Notidobiella in tropical South America likely represents recent dispersal from southern South America to the north. PMID:21594047

  16. The Interdependence of Pedagogy, Learning Theory, Morality and Metaphysics.

    ERIC Educational Resources Information Center

    Blunden, Ralph

    1997-01-01

    Explores the incompatibility between constructivist theories of learning and realist metaphysics (belief that knowledge and skills exist in mind-independent workplace practices). Shows how this results in conflict between constructivist teaching approaches and the transmission or banking mode favored by realist metaphysics. (SK)

  17. Suppressive effect of alpha2 Heremans-Schmid glycoprotein on in vitro calcification of osteogenesis.

    PubMed

    Yoshida, Yuji; Takahashi, Yukihiro; Yoshikawa, Takafumi; Nonomura, Akitaka; Yoshioka, Akira

    2006-02-01

    alpha(2) Heremans-Schmid glycoprotein (alpha(2)HS glycoprotein) is predominantly found in bone. To date, we have investigated plasma alpha(2)HS levels in immature babies and neonates as well as the histological distribution in various neonatal tissues in order to clarify its physiological significance. In an effort to understand the physiological function of alpha(2)HS glycoprotein in bones, we studied the effects of alpha(2)HS glycoprotein in cultured osteogenesis model using rat marrow cells. We added different concentrations of alpha(2)HS glycoprotein to cultured marrow cells, including osteoblasts in the presence of dexamethasone, in an attempt to elucidate the effects of alpha(2)HS glycoprotein on osteoblast growth and bone calcification in vitro. The results showed that total DNA content was significantly increased with 0.2-20 nM (f.c.) alpha(2)HS glycoprotein, but was neither suppressed nor increased with 200 nM (f.c.) alpha(2)HS glycoprotein. Although ALP activity increased with 0.2 or 2 nM (f.c.) alpha(2)HS glycoprotein, it decreased with 20 or 200 nM (f.c.) alpha(2)HS glycoprotein. While 0.2 nM (f.c.) alpha(2)HS glycoprotein had no effect on calcium or osteocalcin content, 2 nM (f.c.) alpha(2)HS glycoprotein decreased both calcium content and osteocalcin content by about half, and no calcium or osteocalcin was observed with 20 or 200 nM (f.c.). Calcium staining of cultured marrow cells revealed that the number of stained cell tubercles decreased in a concentration-dependent manner. These findings suggest that alpha(2)HS glycoprotein regulates the growth of osteoblasts and acts as an inhibitory factor in the regulation of bone calcification.

  18. The metaphysics of quantum mechanics: Modal interpretations

    NASA Astrophysics Data System (ADS)

    Gluck, Stuart Murray

    2004-11-01

    This dissertation begins with the argument that a preferred way of doing metaphysics is through philosophy of physics. An understanding of quantum physics is vital to answering questions such as: What counts as an individual object in physical ontology? Is the universe fundamentally indeterministic? Are indiscernibles identical? This study explores how the various modal interpretations of quantum mechanics answer these sorts of questions; modal accounts are one of the two classes of interpretations along with so-called collapse accounts. This study suggests a new alternative within the class of modal views that yields a more plausible ontology, one in which the Principle of the Identity of Indisceribles is necessarily true. Next, it shows that modal interpretations can consistently deny that the universe must be fundamentally indeterministic so long as they accept certain other metaphysical commitments: either a perfect initial distribution of states in the universe or some form of primitive dispositional properties. Finally, the study sketches out a future research project for modal interpretations based on developing quantified quantum logic.

  19. Isolated metaphyseal injury influences unrelated bones

    PubMed Central

    Tätting, Love; Sandberg, Olof; Bernhardsson, Magnus; Ernerudh, Jan; Aspenberg, Per

    2017-01-01

    Background and purpose Fracture healing involves different inflammatory cells, some of which are not part of the traditional bone field, such as B-cells and cytotoxic T-cells. We wanted to characterize bone healing by flow cytometry using 15 different inflammatory cell markers in a mouse model of metaphyseal injury, and incidentally discovered a previously unknown general skeletal reaction to trauma. Material and methods A bent needle was inserted and twisted to traumatize the cancellous bone in the proximal tibia of C57/Bl6 female mice. This is known to induce vivid bone formation locally in the marrow compartment. Cells were harvested from the injured region, the uninjured contralateral tibia, and the humerus. The compositions of the immune cell populations were compared to those in untraumatized control animals. Results Tibial metaphyseal injury led to substantial changes in the cell populations over time. Unexpectedly, similar changes were also seen in the contralateral tibia and in the humerus, despite the lack of local trauma. Most leukocyte subsets were affected by this generalized reaction. Interpretation A relatively small degree of injury to the proximal tibia led to systemic changes in the immune cell populations in the marrow of unrelated bones, and probably in the entire skeleton. The few changes that were specific for the injury site appeared to relate to modulatory functions. PMID:28128005

  20. Observability, Visualizability and the Question of Metaphysical Neutrality

    NASA Astrophysics Data System (ADS)

    Wolff, Johanna

    2015-09-01

    Theories in fundamental physics are unlikely to be ontologically neutral, yet they may nonetheless fail to offer decisive empirical support for or against particular metaphysical positions. I illustrate this point by close examination of a particular objection raised by Wolfgang Pauli against Hermann Weyl. The exchange reveals that both parties to the dispute appeal to broader epistemological principles to defend their preferred metaphysical starting points. I suggest that this should make us hesitant to assume that in deriving metaphysical conclusions from physical theories we place our metaphysical theories on a purely empirical foundation. The metaphysics within a particular physical theory may well be the result of a priori assumptions in the background, not particular empirical findings.

  1. Prenatal diagnosis of cervical spinal cord compression in chondrodysplasia punctata brachytelephalangic type: A case report and literature review.

    PubMed

    Ochiai, Daigo; Takamura, Kyoko; Nishimura, Gen; Ikeda, Toshiyuki; Yakubo, Kazumi; Fukuiya, Tatsuro

    2013-12-01

    Chondrodysplasia punctata brachytelephalangic type is a common subset of a heterogeneous group of chondrodysplasia punctata. Most affected children generally do not have significant physical disabilities; however, a small number of patients are at risk of cervical canal stenosis with cervical cord compression leading to serious morbidity and early mortality. Very little is known about the in utero manifestation of severe complications. We report an affected child in whom the Binder phenotype was found on antenatal ultrasound and cervical spinal cord compression on fetal magnetic resonance imaging. Prenatal diagnosis of chondrodysplasia punctata brachytelephalangic type and its complications are beneficial for timely, prompt medical intervention. © 2012 The Authors. Congenital Anomalies © 2012 Japanese Teratology Society.

  2. Audism: exploring the metaphysics of oppression.

    PubMed

    Bauman, H-Dirksen L

    2004-01-01

    This article traces the development of the concept of "audism" from its inception in the mid-1970s by exploring three distinct dimensions of oppression: individual, institutional, and metaphysical. Although the first two aspects of audism have been identified, there is a deeply rooted belief system regarding language and human identity that is yet to be explored within the context of audism. This article attempts to expose how our particular historical and philosophical constructions of language and being have created what French philosopher Jacques Derrida calls phonocentrism. Although Derrida does not discuss audism, his deconstruction of the Western notion of language provides a lens through which we can better see the orientation that has provided fertile ground out of which individual and institutional audism has flourished.

  3. [The metaphysical dimension of animal ethics].

    PubMed

    Walz, Norbert

    2008-01-01

    Utilitarian ethics recognises animals as moral objects, but it does not attribute an absolute value to human or non-human individuals. Animal ethics according to Regan defines the non-human individual as an inherent value, but concedes that humans should be given precedence over animals if a situation involves a decision between life and death. Such life and death decisions relate to the fundamental structures of biological nature. To individuals these fundamental structures (the paradox of life and death) will necessarily appear absurd. The metaphysical dimension of animal ethics tries to shed light on the connections between life and death, body and mind that underly ethical discussions and searches for alternatives to the natural organisation of life.

  4. Leibniz on the metaphysical foundation of physics

    NASA Astrophysics Data System (ADS)

    Temple, Daniel R.

    This thesis examines how and why Leibniz felt that physics must be grounded in metaphysics. I argue that one of the strongest motivation Leibniz had for attempting to ground physics in metaphysics was his concern over the problem of induction. Even in his early writings, Leibniz was well aware of the problem of induction and how this problem threatened the very possibility of physics. Both his early and later theories of truth are geared towards solving this deep problem in the philosophy of science. In his early theory of truth, all truths are ultimately grounded in (but not necessarily reducible to) an identity. Hence, all truths are ultimately based in logic. Consequently, the problem of induction is seemingly solved since everything that happens, happens with the force of logical necessity. Unfortunately, this theory is incompatible with Leibniz's theory of possible worlds and hence, jeopardizes the liberty of God. In Leibniz's later theory of truth, Leibniz tries to overcome this weakness by acknowledging truths that are grounded in the free but moral necessity of God's actions. Since God's benevolence is responsible for the actualization of this world, then this world must possess rational laws. Furthermore, since God's rationality ensures that everything obeys the principle of sufficient reason, then we can use this principle to determine the fundamental laws of the universe. Leibniz himself attempts to derive these laws using this principle. Kant attempted to continue this work of securing the possibility of science, and the problems he encountered helped to shape his critical philosophy. So I conclude by a comparative analysis of Leibniz and Kant on the foundations of physics.

  5. Structural Origin of Reversible Twinning, Non-Schmid Effect, Incoherent Twin Boundaries and Texture in Hexagonal Close-Packed Metals

    NASA Astrophysics Data System (ADS)

    Li, B.; El Kadiri, H.; Zhang, X. Y.; Mathaudhu, S. N.; Ma, Q.

    Notably the most dominant twinning mode in hexagonal close-packed metals, {101¯2} <101¯1¯> twinning presents abnormal properties such as reversible twinning and non-Schmid effect. The twin boundaries may significantly deviate from the {101¯2} twinning plane. HCP metals also present a strong propensity to develop texture during processing. Through electron backscatter diffraction and high resolution transmission electron microscopy observations, we show that these properties can be well understood from the perspective of the atomic shuffling that dominates in the twinning.

  6. Metaphyseal dysplasia associated with chronic facial nerve palsy.

    PubMed

    Christodoulou, Loucas; Pavlidou, Efterpi; Spyridou, Cristina; Eccles, Simon; Calder, Alistair; Mankad, Kshitij; Kinali, Maria

    2016-07-01

    Metaphyseal dysplasia (Pyle disease) is a rare autosomal recessive disease with impressive and characteristic radiological findings but relatively mild clinical features. It is usually incidentally diagnosed, despite the impressive radiological findings of gross metaphyseal widening and thinning of cortical bone. Herein, we report an exceptionally unusual case of metaphyseal dysplasia in association with chronic facial nerve palsy. Chronic facial nerve palsy due to compression of the facial nerve in a patient with Pyle disease represents an unusual novelty. Furthermore, this case delineates the clinical spectrum and phenotype of such a rare clinical entity. To the best of our knowledge, this is the first time that such an association is being described.

  7. [Prenatal diagnosis of skeletal dysplasia in first trimester of pregnancy X-linked dominant chondrodysplasia punctata].

    PubMed

    Polák, P; Baxová, A; Křepelová, A; Balák, M

    2014-06-01

    Case report describes successful prenatal diagnosis of skeletal dysplasia in the first trimester of pregnancy in a female patient affected with X-linked dominat chondrodysplasia punctata (CDPX2). Her first pregnancy was terminated in the second trimester due to skeletal dysplasia of the foetus. The diagnosis in the following pregnancy was finished in the first trimester - before the end of the 13th gestational week. The diagnosis was established on the basis of ultrasonographic (US) examination and mutation analysis of the EBP gene in the material of chorionic villus sampling (CVS).

  8. The tragic and the metaphysical in philosophy and psychoanalysis.

    PubMed

    Stolorow, Robert D; Atwood, George E

    2013-06-01

    This article elaborates a claim, first introduced by Wilhelm Dilthey, that metaphysics represents an illusory flight from the tragedy of human finitude. Metaphysics, of which psychoanalytic metapsychologies are a form, transforms the unbearable fragility and transience of all things human into an enduring, permanent, changeless reality, an illusory world of eternal truths. Three "clinical cases" illustrate this thesis in the work and lives of a philosopher and two psychoanalytic theorists: Friedrich Nietzsche and his metaphysical doctrine of the eternal return of the same, Sigmund Freud and his dual instinct theory, and Heinz Kohut and his theoretical language of the self. It is contended that the best safeguard against the pitfalls of metaphysical illusion lies in a shared commitment to reflection on the constitutive contexts of all our theoretical ideas.

  9. The abundant world: Paul Feyerabend's metaphysics of science.

    PubMed

    Brown, Matthew J

    2016-06-01

    The goal of this paper is to provide an interpretation of Feyerabend's metaphysics of science as found in late works like Conquest of Abundance and Tyranny of Science. Feyerabend's late metaphysics consists of an attempt to criticize and provide a systematic alternative to traditional scientific realism, a package of views he sometimes referred to as "scientific materialism." Scientific materialism is objectionable not only on metaphysical grounds, nor because it provides a poor ground for understanding science, but because it implies problematic claims about the epistemic and cultural authority of science, claims incompatible with situating science properly in democratic societies. I show how Feyerabend's metaphysical view, which I call "the abundant world" or "abundant realism," constitute a sophisticated and challenging form of ontological pluralism that makes interesting connections with contemporary philosophy of science and issues of the political and policy role of science in a democratic society.

  10. Gould on species, metaphysics and macroevolution: A critical appraisal.

    PubMed

    Boucher, Sandy C

    2017-04-01

    Stephen Jay Gould's views on the ontology of species were an important plank of his revisionist program in evolutionary theory. In this paper I cast a critical eye over those views. I focus on three central aspects of Gould's views on species: the relation between the Darwinian and the metaphysical notions of individuality, the relation between the ontology of species and macroevolution, and the issue of contextualism and conventionalism about the metaphysics of species.

  11. Newton's Metaphysics of Space as God's Emanative Effect

    NASA Astrophysics Data System (ADS)

    Jacquette, Dale

    2014-09-01

    In several of his writings, Isaac Newton proposed that physical space is God's "emanative effect" or "sensorium," revealing something interesting about the metaphysics underlying his mathematical physics. Newton's conjectures depart from Plato and Aristotle's metaphysics of space and from classical and Cambridge Neoplatonism. Present-day philosophical concepts of supervenience clarify Newton's ideas about space and offer a portrait of Newton not only as a mathematical physicist but an independent-minded rationalist philosopher.

  12. α2-Heremans-schmid glycoprotein (fetuin A) downregulation and its utility in inflammatory bowel disease

    PubMed Central

    Manolakis, Anastassios C; Christodoulidis, Gregory; Kapsoritakis, Andreas N; Georgoulias, Panagiotis; Tiaka, Elisavet K; Oikonomou, Kostas; Valotassiou, Varvara J; Potamianos, Spyros P

    2017-01-01

    AIM To investigate the impact of inflammatory bowel disease (IBD) on α2-Heremans-Schmid Glycoprotein (AHSG/fetuin A) and potential associations with disease and patient characteristics. METHODS AHSG serum levels were determined in treatment-naïve newly-diagnosed patients, 96 with ulcerative colitis (UC), 84 with Crohn's disease (CD), 62 with diarrhea-predominant or mixed irritable bowel syndrome (IBS, D- and M- types) and 180 healthy controls (HC), by an enzyme linked immunosorbent assay (ELISA). All patients were followed for a minimum period of 3 years at the Gastroenterology Department of the University Hospital of Larissa, Greece. C-reactive protein (CRP), anti-glycan antibodies, anti-Saccharomyces cerevisiae mannan antibodies IgG, anti-mannobioside carbohydrate antibodies IgG, anti-laminariobioside carbohydrate antibodies IgG and anti-chitobioside carbohydrate antibodies IgA were also determined via immunonephelometry and ELISA, respectively. RESULTS The mean ± SE of serum AHSG, following adjustment for confounders, was 0.32 ± 0.02 g/L in IBD, 0.32 ± 0.03 g/L in CD and 0.34 ± 0.03 g/L in UC patients, significantly lower than in IBS patients (0.7 ± 0.018 g/L) and HC (0.71 ± 0.02 g/L) (P < 0.0001, in all cases). AHSG levels were comparable between the CD and UC groups. Based on AHSG levels IBD patients could be distinguished from HC with about 90% sensitivity and specificity. Further adjusted analysis verified the inverse association between AHSG and penetrating, as well as stricturing CD (partial correlation coefficient: -0.45 and -0.33, respectively) (P < 0.05). After adjusting for confounding factors, inverse correlations between AHSG and CRP and the need for anti-TNFα therapy or surgery, were found (partial correlation coefficients: -0.31, -0.33, -0.41, respectively, P < 0.05, in all cases). Finally, IBD individuals who were seropositive, for at least one marker, had AHSG levels falling within the two lower quartiles (OR = 2.86, 95%CI: 1.5-5.44, P

  13. Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome).

    PubMed

    Herman, Gail E; Kelley, Richard I; Pureza, V; Smith, D; Kopacz, Kevin; Pitt, James; Sutphen, Rebecca; Sheffield, Leslie J; Metzenberg, Aida B

    2002-01-01

    Human X-linked dominant chondrodysplasia punctata (CDPX2) or Happle syndrome is associated with mutations in the human emopamil binding protein (EBP), a delta8-delta7-sterol isomerase involved in cholesterol biosynthesis. The purpose of the current study was to determine the spectrum of EBP mutations in females with CDPX2 and the utility of biochemical screening for the disorder by analysis of plasma sterols. Genomic sequencing of the coding exons of the human delta8-delta7-sterol isomerase gene was performed on DNA from 26 females with suspected X-linked dominant chondrodysplasia punctata. Clinical data and sterol analyses were obtained for 24 and 23 of the patients, respectively. Mutations in the human EBP delta8-delta7-sterol isomerase gene were found in 22 (85%) of 26 females studied, including 20 (91%) of 22 patients who demonstrated an abnormal sterol profile. Thirteen of the mutations have not been reported previously. All of the females in whom mutations were found demonstrated typical skin manifestations of CDPX2, and all but one had a skeletal dysplasia. Plasma sterol analysis was a highly specific and sensitive indicator of the presence of an EBP mutation in females with suspected CDPX2, including a clinically unaffected mother of a sporadic case. No clear genotype/phenotype correlations were ascertained, probably because phenotypic expression is influenced substantially by the pattern of X-inactivation in an affected female.

  14. Beyond the realism debate: The metaphysics of 'racial' distinctions.

    PubMed

    Lemeire, Olivier

    2016-10-01

    The current metaphysical race debate is very much focused on the realism question whether races exist. In this paper I argue against the importance of this question. Philosophers, biologists and anthropologists expect that answering this question will tell them something substantive about the metaphysics of racial classifications, and will help them to decide whether it is justified to use racial categories in scientific research and public policy. I argue that there are two reasons why these expectations are not fulfilled. First of all, the realism question about race leads to a very broad philosophical debate about the semantics of general terms and the criteria for real kinds, rather than to a debate about the metaphysics of racial categories specifically. Secondly, there is a type of race realism that is so toothless that it is almost completely uninformative about the metaphysics of race. In response to these worries, I argue that the metaphysical race debate should rather be focused on the question in what way and to what extent 'racial' distinctions can ground the epistemic practices of various scientific disciplines. I spell out what I mean by this, and go on to demonstrate that trying to answer this question leads to a more fruitful metaphysical debate.

  15. Life after Newton: an ecological metaphysic.

    PubMed

    Ulanowicz, R E

    1999-05-01

    Ecology may indeed be 'deep', as some have maintained, but perhaps much of the mystery surrounding it owes more simply to the dissonance between ecological notions and the fundamentals of the modern synthesis. Comparison of the axioms supporting the Newtonian world view with those underlying the organicist and stochastic metaphors that motivate much of ecosystems science reveals strong disagreements--especially regarding the nature of the causes of events and the scalar domains over which these causes can operate. The late Karl Popper held that the causal closure forced by our mechanical perspective on nature frustrates our attempts to achieve an 'evolutionary theory of knowledge.' He suggested that the Newtonian concept of 'force' must be generalized to encompass the contingencies that arise in evolutionary processes. His reformulation of force as 'propensity' leads quite naturally to a generalization of Newton's laws for ecology. The revised tenets appear, however, to exhibit more scope and allow for change to arise from within a system. Although Newton's laws survive (albeit in altered form) within a coalescing ecological metaphysic, the axioms that Enlightenment thinkers appended to Newton's work seem ill-suited for ecology and perhaps should yield to a new and coherent set of assumptions on how to view the processes of nature.

  16. Variant selection of twins with low Schmid factors in cross grain boundary twin pairs in a magnesium alloy

    NASA Astrophysics Data System (ADS)

    Shi, Z.-Z.; Zhang, Y. D.; Wagner, F.; Juan, P.-A.; Berbenni, S.; Capolungo, L.; Lecomte, J.-S.; Richeton, T.

    2015-04-01

    Samples of magnesium AZ31 alloys are deformed in compression at room temperature under a strain rate of 1×10-3 s-1. The initial texture with respect to the loading direction is favorable for {10-12}<-1011> extension twinning during the deformation. At an engineering strain of 2.75%, many extension twins are found to be connected with each other at grain boundaries, forming cross grain boundary twin pairs. Some have low positive or even negative Schmid factors (SFs). The variant selection of them are interpreted in terms of shear accommodations. The observed twin variants require the least or no accommodation through deformation modes with high CRSSs, but the most or more accommodation through those with low CRSSs.

  17. A multi-scale model of dislocation plasticity in α-Fe: Incorporating temperature, strain rate and non-Schmid effects

    SciTech Connect

    Lim, H.; Hale, L. M.; Zimmerman, J. A.; Battaile, C. C.; Weinberger, C. R.

    2015-01-05

    In this study, we develop an atomistically informed crystal plasticity finite element (CP-FE) model for body-centered-cubic (BCC) α-Fe that incorporates non-Schmid stress dependent slip with temperature and strain rate effects. Based on recent insights obtained from atomistic simulations, we propose a new constitutive model that combines a generalized non-Schmid yield law with aspects from a line tension (LT) model for describing activation enthalpy required for the motion of dislocation kinks. Atomistic calculations are conducted to quantify the non-Schmid effects while both experimental data and atomistic simulations are used to assess the temperature and strain rate effects. The parameterized constitutive equation is implemented into a BCC CP-FE model to simulate plastic deformation of single and polycrystalline Fe which is compared with experimental data from the literature. This direct comparison demonstrates that the atomistically informed model accurately captures the effects of crystal orientation, temperature and strain rate on the flow behavior of siangle crystal Fe. Furthermore, our proposed CP-FE model exhibits temperature and strain rate dependent flow and yield surfaces in polycrystalline Fe that deviate from conventional CP-FE models based on Schmid's law.

  18. A multi-scale model of dislocation plasticity in α-Fe: Incorporating temperature, strain rate and non-Schmid effects

    DOE PAGES

    Lim, H.; Hale, L. M.; Zimmerman, J. A.; ...

    2015-01-05

    In this study, we develop an atomistically informed crystal plasticity finite element (CP-FE) model for body-centered-cubic (BCC) α-Fe that incorporates non-Schmid stress dependent slip with temperature and strain rate effects. Based on recent insights obtained from atomistic simulations, we propose a new constitutive model that combines a generalized non-Schmid yield law with aspects from a line tension (LT) model for describing activation enthalpy required for the motion of dislocation kinks. Atomistic calculations are conducted to quantify the non-Schmid effects while both experimental data and atomistic simulations are used to assess the temperature and strain rate effects. The parameterized constitutive equationmore » is implemented into a BCC CP-FE model to simulate plastic deformation of single and polycrystalline Fe which is compared with experimental data from the literature. This direct comparison demonstrates that the atomistically informed model accurately captures the effects of crystal orientation, temperature and strain rate on the flow behavior of siangle crystal Fe. Furthermore, our proposed CP-FE model exhibits temperature and strain rate dependent flow and yield surfaces in polycrystalline Fe that deviate from conventional CP-FE models based on Schmid's law.« less

  19. An expressed fgf4 retrogene is associated with breed-defining chondrodysplasia in domestic dogs.

    PubMed

    Parker, Heidi G; VonHoldt, Bridgett M; Quignon, Pascale; Margulies, Elliott H; Shao, Stephanie; Mosher, Dana S; Spady, Tyrone C; Elkahloun, Abdel; Cargill, Michele; Jones, Paul G; Maslen, Cheryl L; Acland, Gregory M; Sutter, Nathan B; Kuroki, Keiichi; Bustamante, Carlos D; Wayne, Robert K; Ostrander, Elaine A

    2009-08-21

    Retrotransposition of processed mRNAs is a common source of novel sequence acquired during the evolution of genomes. Although the vast majority of retroposed gene copies, or retrogenes, rapidly accumulate debilitating mutations that disrupt the reading frame, a small percentage become new genes that encode functional proteins. By using a multibreed association analysis in the domestic dog, we demonstrate that expression of a recently acquired retrogene encoding fibroblast growth factor 4 (fgf4) is strongly associated with chondrodysplasia, a short-legged phenotype that defines at least 19 dog breeds including dachshund, corgi, and basset hound. These results illustrate the important role of a single evolutionary event in constraining and directing phenotypic diversity in the domestic dog.

  20. An Expressed Fgf4 Retrogene Is Associated with Breed-Defining Chondrodysplasia in Domestic Dogs

    PubMed Central

    Parker, Heidi G.; VonHoldt, Bridgett M.; Quignon, Pascale; Margulies, Elliott H.; Shao, Stephanie; Mosher, Dana S.; Spady, Tyrone C.; Elkahloun, Abdel; Cargill, Michele; Jones, Paul G.; Maslen, Cheryl L.; Acland, Gregory M.; Sutter, Nathan B.; Kuroki, Keiichi; Bustamante, Carlos D.; Wayne, Robert K.; Ostrander, Elaine A.

    2009-01-01

    Retrotransposition of processed mRNAs is a frequent source of novel sequence acquired during the evolution of genomes. The vast majority of retroposed gene copies are inactive pseudogenes that rapidly acquire mutations that disrupt the reading frame, while precious few are conserved to become new genes. Utilizing a multi-breed association analysis in the domestic dog, we demonstrate that a recently acquired fgf4 retrogene causes chondrodysplasia, a short-legged phenotype that defines several common dog breeds including the dachshund, corgi and basset hound. The discovery that a single evolutionary event underlies a breed-defining phenotype for 19 diverse dog breeds demonstrates the importance of unique mutational events in constraining and directing phenotypic diversity in the domestic dog. PMID:19608863

  1. Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene.

    PubMed

    Çim, Abdullah; Coşkun, Salih; Görükmez, Orhan; Yüksel, Hatice; Uluca, Ünal; Pietro, Erminia Di; Plourde, François; Braverman, Nancy Elise

    2015-03-01

    Peroxisomes are involved in various metabolic reactions. Rhizomelic chondrodysplasia punctata (RCDP) type 1 is one of the peroxisomal biogenesis disorders caused by mutations in the PEX7 gene and is inherited in an autosomal recessive manner. We present a nine-year-old boy with skeletal abnormalities and dysmorphic facial appearance. The patient was born to parents who were first cousins. Very-long-chain fatty acids and pristanic acid levels were in the normal range, but an elevated phytanic acid level was detected by gas chromatography/mass spectrometry. The PEX7 gene was sequenced in the patient and his parents. A novel homozygous mutation, c.192delT (p.F64Lfs*10), was identified in the patient and was present in heterozygosity in both parents. In conclusion, the clinical presentation and peroxisome profile of the patient suggest that this novel mutation leads to RCDP type 1.

  2. X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male.

    PubMed

    Aughton, David J; Kelley, Richard I; Metzenberg, Aida; Pureza, Vincent; Pauli, Richard M

    2003-01-30

    X-linked dominant chondrodysplasia punctata (CDPX2; Happle syndrome) is recognized almost exclusively in females, who display mosaic and asymmetric features, presumed to arise secondary to random X-inactivation. CDPX2 results from mutation of an X-linked gene coding for sterol-delta(8)-delta(7) isomerase (emopamil binding protein). We describe a boy with clinical features of CDPX2 (including those presumed to arise usually secondary to functional mosaicism in females). Biochemical and molecular studies demonstrate that he is mosaic for a sterol-delta(8)-delta(7) isomerase gene mutation. He is the first reported example of single gene mosaicism giving rise to CDPX2 in a male. Copyright 2002 Wiley-Liss, Inc.

  3. Experimental healing of distraction osteogenesis comparing metaphyseal with diaphyseal sites.

    PubMed

    Aronson, J; Shen, X

    1994-04-01

    Distraction osteogenesis was performed on 32 adult dogs to compare bone healing at metaphyseal and diaphyseal sites. Sixteen dogs underwent proximal metaphyseal corticotomy and 16 dogs underwent middiaphyseal corticotomy of the left tibiae for gradual lengthening. Each major group was then divided into four subgroups of four dogs each on the basis of zero-, seven-, 14- and 21-day latency periods. The standard radiograph, quantitative computer tomography density, and bone-healing index were used to evaluate new bone formation and consolidation. A distraction rate of 1 mm per day for four weeks created an average elongation of 23.9 +/- 3.7 mm in the metaphyseal groups and 23.8 +/- 2.0 mm in the diaphyseal groups, excluding nine premature consolidations. In the 16 metaphyseal lengthenings, there were six premature consolidations (37.5%): four with a 21-day latency, two with a 14-day latency, and one nonunion (6.2%). In the 16 diaphyseal lengthenings, three fused prematurely (18.7%), two with a 21-day latency and one incomplete corticotomy with a seven-day latency. Three lengthenings of the diaphyseal group resulted in nonunion (18.7%). All animals, metaphyseal and diaphyseal, successfully bridged the distraction gap after a zero-day latency. The bone-healing index showed that new bone consolidation was best with a zero-day latency in metaphyseal (22 +/- 7.6 days/cm) and diaphyseal lengthening (26.5 +/- 6.5 days/cm). Comparing the minimum quantitative computer tomography density ratio of the experimental side with the contralateral side indicated a significant difference at the end of distraction (p = 0.001), at fixator removal (p = 0.001), and when the dogs were killed (p = 0.04).(ABSTRACT TRUNCATED AT 250 WORDS)

  4. [The mark of envy: metaphysics and embryology according to Descartes].

    PubMed

    Gaudemard, Lynda

    2012-01-01

    This paper explores the interaction between medicine and metaphysics in modern natural philosophy and especially in Descartes' philosophy. I argue that Descartes hypothetical account of birthmarks in connection with his embryology provides an argumentative proof of the metaphysical necessity of a substantial union between mind and body, which however does not threaten his doctrine of the real distinction between these two substances. It would appear that his argument relies on a temporal conception of alethic modalities and provides a new answer to Henricus Regius who in 1641 claimed that, for Descartes, the human being is an ensper accidens.

  5. The metaphysical basis of a liberal organ procurement policy.

    PubMed

    Hershenov, David B; Delaney, James J

    2010-08-01

    There remains a need to properly analyze the metaphysical assumptions underlying two organ procurement policies: presumed consent and organ sales. Our contention is that if one correctly understands the metaphysics of both the human body and material property, then it will turn out that while organ sales are illiberal, presumed consent is not. What we mean by illiberal includes violating rights of bodily integrity, property, or autonomy, as well as arguing for or against a policy in a manner that runs afoul of Rawlsian public reason.

  6. Ulnar metaphyseal osteochondrosis in seven captive bred cheetahs (Acinonyx jubatus).

    PubMed

    Allan, Graeme; Portas, Timothy; Bryant, Benn; Howlett, Rolfe; Blyde, David

    2008-01-01

    Distal ulna metaphyseal osteochondrosis was identified in seven captive bred cheetahs raised in Australia between 1984 and 2005. The disorder was characterized by bilateral carpal valgus conformation. In the metaphyseal region of the distal ulnae, an osteolucent defect that appeared as a proximal extension of the lucent physis was identified radiographically between 6 and 10 months of age. Ulna ostectomy was done to correct the angular limb deformity. Histologically, changes were identified in the osteolucent lesion that resembled osteochondrosis. We propose that the condition is probably familial and/or dietary in origin.

  7. A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: Genotype/phenotype correlations

    SciTech Connect

    Superti-Furga, A.; Steinmann, B.; Gitzelmann, R.; Rossi, A.

    1996-05-03

    Achondrogenesis type 1B (ACG-1B), atelosteogenesis type 2 (AO-2), and diastrophic dysplasia (DTD) are recessively inherited chondrodysplasia of decreasing severity caused by mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene on chromosome 5. In these conditions, sulfate transport across the cell membrane is impaired which results in insufficient sulfation of cartilage proteoglycans and thus in an abnormally low sulfate content of cartilage. The severity of the phenotype correlates well with the predicted effect of the underlying DTDST mutations: homozygosity or compound heterozygosity for stop codons or transmembrane domain substitutions mostly result in achondrogenesis type 1B, while other structural or regulatory mutations usually result in one of the less severe phenotypes. The chondrodysplasia arising at the DTDST locus constitute a bone dysplasia family with recessive inheritance. 28 refs., 2 tabs.

  8. Fall and Rise of Aristotelian Metaphysics in the Philosophy of Science

    ERIC Educational Resources Information Center

    Lamont, John

    2009-01-01

    The paper examines the fortunes of Aristotelian metaphysics in science and the philosophy of science. It considers the Enlightenment claim that such a metaphysics is fundamentally unscientific, and that its abandonment was essential to the scientific revolution. The history of the scientific revolution and the metaphysical debates involved in it…

  9. Fall and Rise of Aristotelian Metaphysics in the Philosophy of Science

    ERIC Educational Resources Information Center

    Lamont, John

    2009-01-01

    The paper examines the fortunes of Aristotelian metaphysics in science and the philosophy of science. It considers the Enlightenment claim that such a metaphysics is fundamentally unscientific, and that its abandonment was essential to the scientific revolution. The history of the scientific revolution and the metaphysical debates involved in it…

  10. Clinical and radiological pictures of two newborn babies with manifestations of chondrodysplasia punctata and review of available literature

    PubMed Central

    Jurkiewicz, Elżbieta; Marcinska, Beata; Bothur-Nowacka, Joanna; Dobrzanska, Anna

    2013-01-01

    Summary Background: Chondrodysplasia punctata (CDP) is a rare, heterogeneous congenital skeletal dysplasia, characterized by punctate or dot-like calcium deposits in cartilage observed on neonatal radiograms. A number of inborn metabolic diseases are associated with CDP, including peroxisomal and cholesterol biosynthesis dysfunction and other inborn errors of metabolism such as: mucolipidosis type II, mucopolysacharidosis type III, GM1 gangliosidosis. CDP is also related to disruption of vitamin K-dependent metabolism, causing secondary effects on the embryo, as well as fetal alcohol syndrome (FAS), chromosomal abnormalities that include trisomies 18 and 21, Turner syndrome. Case Report: This article presents clinical data and diagnostic imaging findings of two newborn babies with chondrodysplasia punctata. Children presented with skeletal and cartilage anomalies, dysmorphic facial feature, muscles tone abnormalities, skin changes and breathing difficulties. One of the patients demonstrated critical stenosis of spinal canal with anterior subluxation of C1 vertebra relative to C2. The aim of this article is to present cases and briefly describe current knowledge on etiopathogenesis as well as radiological and clinical symptoms of diseases coexisting with CDP. Conclusions: Radiological diagnostic imaging allows for visualization of punctate focal mineralization in bone epiphyses during neonatal age and infancy. Determining the etiology of chondrodysplasia punctata requires performing various basic as well as additional examinations, including genetic studies. PMID:23807887

  11. Clinical and radiological pictures of two newborn babies with manifestations of chondrodysplasia punctata and review of available literature.

    PubMed

    Jurkiewicz, Elżbieta; Marcinska, Beata; Bothur-Nowacka, Joanna; Dobrzanska, Anna

    2013-04-01

    Chondrodysplasia punctata (CDP) is a rare, heterogeneous congenital skeletal dysplasia, characterized by punctate or dot-like calcium deposits in cartilage observed on neonatal radiograms. A number of inborn metabolic diseases are associated with CDP, including peroxisomal and cholesterol biosynthesis dysfunction and other inborn errors of metabolism such as: mucolipidosis type II, mucopolysacharidosis type III, GM1 gangliosidosis. CDP is also related to disruption of vitamin K-dependent metabolism, causing secondary effects on the embryo, as well as fetal alcohol syndrome (FAS), chromosomal abnormalities that include trisomies 18 and 21, Turner syndrome. This article presents clinical data and diagnostic imaging findings of two newborn babies with chondrodysplasia punctata. Children presented with skeletal and cartilage anomalies, dysmorphic facial feature, muscles tone abnormalities, skin changes and breathing difficulties. One of the patients demonstrated critical stenosis of spinal canal with anterior subluxation of C1 vertebra relative to C2. The aim of this article is to present cases and briefly describe current knowledge on etiopathogenesis as well as radiological and clinical symptoms of diseases coexisting with CDP. Radiological diagnostic imaging allows for visualization of punctate focal mineralization in bone epiphyses during neonatal age and infancy. Determining the etiology of chondrodysplasia punctata requires performing various basic as well as additional examinations, including genetic studies.

  12. Septoclast Deficiency Accompanies Postnatal Growth Plate Chondrodysplasia in the Toothless (tl) Osteopetrotic, Colony-Stimulating Factor-1 (CSF-1)-Deficient Rat and Is Partially Responsive to CSF-1 Injections

    PubMed Central

    Gartland, Alison; Mason-Savas, April; Yang, Meiheng; MacKay, Carole A.; Birnbaum, Mark J.; Odgren, Paul R.

    2009-01-01

    The septoclast is a specialized, cathepsin B-rich, perivascular cell type that accompanies invading capillaries on the metaphyseal side of the growth plate during endochondral bone growth. The putative role of septoclasts is to break down the terminal transverse septum of growth plate cartilage and permit capillaries to bud into the lower hypertrophic zone. This process fails in osteoclast-deficient, osteopetrotic animal models, resulting in a progressive growth plate dysplasia. The toothless rat is severely osteopetrotic because of a frameshift mutation in the colony-stimulating factor-1 (CSF-1) gene (Csf1tl). Whereas CSF-1 injections quickly restore endosteal osteoclast populations, they do not improve the chondrodysplasia. We therefore investigated septoclast populations in Csf1tl/Csf1tl rats and wild-type littermates, with and without CSF-1 treatment, at 2 weeks, before the dysplasia is pronounced, and at 4 weeks, by which time it is severe. Tibial sections were immunolabeled for cathepsin B and septoclasts were counted. Csf1tl/Csf1tl mutants had significant reductions in septoclasts at both times, although they were more pronounced at 4 weeks. CSF-1 injections increased counts in wild-type and mutant animals at both times, restoring mutants to normal levels at 2 weeks. In all of the mutants, septoclasts seemed misoriented and had abnormal ultrastructure. We conclude that CSF-1 promotes angiogenesis at the chondroosseous junction, but that, in Csf1tl/Csf1tl rats, septoclasts are unable to direct their degradative activity appropriately, implying a capillary guidance role for locally supplied CSF-1. PMID:19893052

  13. Metaphyseal osteopathy-like disease in two sibling kittens.

    PubMed

    Pantaleo, Valeria; D'Ettorre, Paolo; Caldin, Marco; Vezzoni, Aldo

    2016-01-01

    This report describes the diagnosis and treatment of a growth plate disturbance resembling canine metaphyseal osteopathy in two, two-month-old, sibling, intact, female Domestic Shorthair cats. Clinical signs and radiographic lesions resolved spontaneously after three months. Follow-up examination at six months of age showed complete recovery and no radiographic abnormalities.

  14. Modes of Learning: Whitehead's Metaphysics and the Stages of Education

    ERIC Educational Resources Information Center

    Allan, George

    2012-01-01

    Educators are familiar with Alfred North Whitehead's three stages of education: romance, precision, and generalization. Philosophers are familiar with his metaphysical theories about the primacy of temporal processes. In "Modes of Learning," George Allan brings these two sides of Whitehead's thought together for the first time in a book…

  15. Modes of Learning: Whitehead's Metaphysics and the Stages of Education

    ERIC Educational Resources Information Center

    Allan, George

    2012-01-01

    Educators are familiar with Alfred North Whitehead's three stages of education: romance, precision, and generalization. Philosophers are familiar with his metaphysical theories about the primacy of temporal processes. In "Modes of Learning," George Allan brings these two sides of Whitehead's thought together for the first time in a book suitable…

  16. Probing the Limits of Reality: The Metaphysics in Science Fiction.

    ERIC Educational Resources Information Center

    Taylor, John L.

    2003-01-01

    Addresses metaphysical questions concerning the ultimate structure of reality and discusses scientific nature. Suggests that the world cannot afford to neglect the role of conceptual analysis in thinking critically about the possibilities that science fiction claims to describe. (Author/KHR)

  17. A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies.

    PubMed

    Matos-Miranda, Claudia; Nimmo, Graeme; Williams, Bradley; Tysoe, Carolyn; Owens, Martina; Bale, Sherri; Braverman, Nancy

    2013-08-01

    The only known genetic cause of brachytelephalangic chondrodysplasia punctata is X-linked chondrodysplasia punctata 1 (CDPX1), which results from a deficiency of arylsulfatase E (ARSE). Historically, ARSE mutations have been identified in only 50% of male patients, and it was proposed that the remainder might represent phenocopies due to maternal-fetal vitamin K deficiency and maternal autoimmune diseases. To further evaluate causes of brachytelephalangic chondrodysplasia punctata, we established a Collaboration Education and Test Translation program for CDPX1 from 2008 to 2010. Of the 29 male probands identified, 17 had ARSE mutations that included 10 novel missense alleles and one single-codon deletion. To determine pathogenicity of these and additional missense alleles, we transiently expressed them in COS cells and measured arylsulfatase E activity using the artificial substrate, 4-methylumbelliferyl sulfate. In addition, clinical data were collected to investigate maternal effects and genotype-phenotype correlations. In this study, 58% of males had ARSE mutations. All mutant alleles had negligible arylsulfatase E activity. There were no obvious genotype-phenotype correlations. Maternal etiologies were not reported in most patients. CDPX1 is caused by loss of arylsulfatase E activity. Around 40% of male patients with brachytelephalangic chondrodysplasia punctata do not have detectable ARSE mutations or known maternal etiological factors. Improved understanding of arylsulfatase E function is predicted to illuminate other etiologies for brachytelephalangic chondrodysplasia punctata.

  18. Brachytelephalangic chondrodysplasia punctata caused by new small hemizygous deletion in a boy presenting with hearing loss.

    PubMed

    Vrečar, Irena; Rudolf, Gorazd; Peterlin, Borut; Lovrecic, Luca

    2015-01-01

    X-linked recessive type chondrodysplasia punctata (CDPX1) is a congenital disorder of cartilage and bone development with typical findings of stippled epyphises, nasomaxillary hypoplasia and short distal phalanges in a male patient. Disease is caused due to the loss of arylsulfatase E activity and only 55 patients with genetically confirmed disease have been reported so far. In 60-75 % of all patients the mutation in ARSE gene is detected by sequence analysis and in further 25 % of patients Xp deletions or rearrangements are causative and may be identified by classical chromosome studies. We report on a male patient refered to clinical geneticist for congenital hearing loss and mild dysplastic signs, both phenotypic features being relatively unspecific and non suggestive of CDPX1 in first instance. Array comparative genomic hybridisation showed approximatelly 3 kb big deletion, spaning intron and exon 7 of arylsulfatase E gene located in Xp22.33. This explained the cause of hearing loss, being present in 26-89 % od CDPX1 patients, as well as additional non prominent skeletal characteristics described by geneticist in our patient - mild midface hypoplasia and mild brachytelephalangy. Reported case introduces different presenting clinical phenotype for CDPX1, emphasizing different expressivity in this disorder.

  19. Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata.

    PubMed

    Kanzawa, Noriyuki; Shimozawa, Nobuyuki; Wanders, Ronald J A; Ikeda, Kazutaka; Murakami, Yoshiko; Waterham, Hans R; Mukai, Satoru; Fujita, Morihisa; Maeda, Yusuke; Taguchi, Ryo; Fujiki, Yukio; Kinoshita, Taroh

    2012-04-01

    Many cell surface proteins in mammalian cells are anchored to the plasma membrane via glycosylphosphatidylinositol (GPI). The predominant form of mammalian GPI contains 1-alkyl-2-acyl phosphatidylinositol (PI), which is generated by lipid remodeling from diacyl PI. The conversion of diacyl PI to 1-alkyl-2-acyl PI occurs in the ER at the third intermediate in the GPI biosynthetic pathway. This lipid remodeling requires the alkyl-phospholipid biosynthetic pathway in peroxisome. Indeed, cells defective in dihydroxyacetone phosphate acyltransferase (DHAP-AT) or alkyl-DHAP synthase express only the diacyl form of GPI-anchored proteins. A defect in the alkyl-phospholipid biosynthetic pathway causes a peroxisomal disorder, rhizomelic chondrodysplasia punctata (RCDP), and defective biogenesis of peroxisomes causes Zellweger syndrome, both of which are lethal genetic diseases with multiple clinical phenotypes such as psychomotor defects, mental retardation, and skeletal abnormalities. Here, we report that GPI lipid remodeling is defective in cells from patients with Zellweger syndrome having mutations in the peroxisomal biogenesis factors PEX5, PEX16, and PEX19 and in cells from patients with RCDP types 1, 2, and 3 caused by mutations in PEX7, DHAP-AT, and alkyl-DHAP synthase, respectively. Absence of the 1-alkyl-2-acyl form of GPI-anchored proteins might account for some of the complex phenotypes of these two major peroxisomal disorders.

  20. Natural history and management of cervical spine disease in chondrodysplasia punctata and coumarin embryopathy.

    PubMed

    Vogel, Timothy W; Menezes, Arnold H

    2012-04-01

    Chondrodysplasia punctata (CDP) is a group of skeletal dysplasias manifesting with progressive cervical instability that leads to neurological deficits and eventual death. The major clinical features of CDP also present in a phenocopy known as coumarin embryopathy (CE) which results from coumarin exposure during pregnancy. The objective of this study was to assess treatment strategies employed for children affected by CDP or CE with cervical instability and to determine a strategy on how best to diagnose and treat affected neonates. We performed a systematic review of the English literature for cases reporting cervical spine involvement in CDP and CE and identified 44 such patients. We extracted clinical information on these disorders and identified two patients from our craniovertebral junction database of over 6,000 patients evaluated at our institution. Patients most frequently present with hyperreflexia (21%) and weakness (21%), and there were various conservative treatment strategies. Twenty-one percent of patients who were treated conservatively had neurological complications in their clinical course. There were two deaths reported, one resulting from conservative treatment and one from surgical treatment. We also report long-term follow-up analysis for a patient treated at our institution for the last 30 years and agree with all other reports that suggest that monitoring patients for neurological changes is essential to prevent further neurological injury. This study emphasizes the need for careful neurological and surgical evaluation of pediatric patients with cervical spine abnormalities affected by CDP or CE in order to prevent progressive instability.

  1. Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation.

    PubMed

    Noguchi, Masafumi; Honsho, Masanori; Abe, Yuichi; Toyama, Ryusuke; Niwa, Hajime; Sato, Yoshiteru; Ghaedi, Kamran; Rahmanifar, Ali; Shafeghati, Yousef; Fujiki, Yukio

    2014-07-01

    Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive disorder due to the deficiency in ether lipid synthesis. RCDP type 1, the most prominent type, is caused by the dysfunction of the receptor of peroxisome targeting signal type 2, Pex7 (peroxisomal biogenesis factor 7), and the rest of the patients, RCDP types 2 and 3, have defects in peroxisomal enzymes catalyzing the initial two steps of alkyl-phospholipid synthesis, glyceronephosphate O-acyltransferase and alkylglycerone phosphate synthase (Agps). We herein investigated defects of two patients with RCDP type 3. Patient 1 had a novel missense mutation, T1533G, resulting in the I511M substitution in Agps. The plasmalogen level was mildly reduced, whereas the protein level and peroxisomal localization of Agps-I511M in fibroblasts were normal as in the control fibroblasts. Structure prediction analysis suggested that the mutated residue was located in the helix α15 on the surface of V-shaped active site tunnel in Agps, likely accounting for the mild defects of plasmalogen synthesis. These results strongly suggest that an individual with mildly affected level of plasmalogen synthesis develops RCDP. In fibroblasts from patient 2, the expression of AGPS mRNA and Agps protein was severely affected, thereby giving rise to the strong reduction of plasmalogen synthesis.

  2. Severe X-linked chondrodysplasia punctata in nine new female fetuses.

    PubMed

    Lefebvre, Mathilde; Dufernez, Fabienne; Bruel, Ange-Line; Gonzales, Marie; Aral, Bernard; Saint-Onge, Judith; Gigot, Nadège; Desir, Julie; Daelemans, Caroline; Jossic, Frédérique; Schmitt, Sébastien; Mangione, Raphaele; Pelluard, Fanny; Vincent-Delorme, Catherine; Labaune, Jean-Marc; Bigi, Nicole; D'Olne, Dominique; Delezoide, Anne-Lise; Toutain, Annick; Blesson, Sophie; Cormier-Daire, Valérie; Thevenon, Julien; El Chehadeh, Salima; Masurel-Paulet, Alice; Joyé, Nicole; Vibert-Guigue, Claude; Rigonnot, Luc; Rousseau, Thierry; Vabres, Pierre; Hervé, Philippe; Lamazière, Antonin; Rivière, Jean-Baptiste; Faivre, Laurence; Laurent, Nicole; Thauvin-Robinet, Christel

    2015-07-01

    Conradi-Hünermann-Happle [X-linked dominant chondrodysplasia punctata 2 (CDPX2)] syndrome is a rare X-linked dominant skeletal dysplasia usually lethal in men while affected women show wide clinical heterogeneity. Different EBP mutations have been reported. Severe female cases have rarely been reported, with only six antenatal presentations. To better characterize the phenotype in female fetuses, we included nine antenatally diagnosed cases of women with EBP mutations. All cases were de novo except for two fetuses with an affected mother and one case of germinal mosaicism. The mean age at diagnosis was 22 weeks of gestation. The ultrasound features mainly included bone abnormalities: shortening (8/9 cases) and bowing of the long bones (5/9), punctuate epiphysis (7/9) and an irregular aspect of the spine (5/9). Postnatal X-rays and examination showed ichthyosis (8/9) and epiphyseal stippling (9/9), with frequent asymmetric short and bowed long bones. The X-inactivation pattern of the familial case revealed skewed X-inactivation in the mildly symptomatic mother and random X-inactivation in the severe fetal case. Differently affected skin samples of the same fetus revealed different patterns of X-inactivation. Prenatal detection of asymmetric shortening and bowing of the long bones and cartilage stippling should raise the possibility of CPDX2 in female fetuses, especially because the majority of such cases involve de novo mutations. © 2015 John Wiley & Sons, Ltd.

  3. An extended outbreak of congenital chondrodysplasia in calves in South East Australia.

    PubMed

    Cave, J G; McLaren, P J; Whittaker, S J; Rast, L; Stephens, A; Parker, E M

    2008-04-01

    To report an outbreak of congenital chondrodystrophy in calves in South East Australia. District veterinarians investigated reported cases of calf deformities. Owners of affected herds were interviewed using a standard questionnaire to identify potential risk factors. Dams of several affected calves were serologically tested for Akabane virus, Aino virus, pestivirus and bluetongue, and affected calves were tested for pestivirus antigen and serum immunoglobulin concentrations. Gross and histopathological examinations of numerous calves were performed, concentrating on the musculoskeletal system. A case definition of distinctive skeletal deformities was established, and 89 property owners reported calves with chondrodystrophy in Spring 2003, 2004 or 2005. Some 14 property owners reported affected calves in more than one year. Prevalence and severity of deformity varied greatly between and within properties. None of breed, sex, age of dam, lineage, pasture type, supplementary feeding, fertiliser use or toxic plants was consistently associated with the disease. All dams experienced hot, dry conditions during the first trimester of pregnancy and were exposed to adverse conditions thereafter. Consistently dams were reported to have been grazing undulating to hilly terrain during early pregnancy. All serological tests were negative for Akabane virus, Aino virus, pestivirus and bluetongue. Histopathology of affected skeletal samples showed chondrodysplasia. The outbreak had similarities with previous outbreaks reported in the region. No specific aetiology could be determined. There is some evidence that the cause of the deformities could be a manganese deficiency during foetal development. Ongoing work to test this hypothesis is therefore warranted.

  4. Reduced chondrocyte proliferation and chondrodysplasia in mice lacking the integrin-linked kinase in chondrocytes

    PubMed Central

    Terpstra, Leonieke; Prud'homme, Josée; Arabian, Alice; Takeda, Shu; Karsenty, Gérard; Dedhar, Shoukat; St-Arnaud, René

    2003-01-01

    Chondrocyte proliferation and differentiation requires their attachment to the collagen type II–rich matrix of developing bone. This interaction is mediated by integrins and their cytoplasmic effectors, such as the integrin-linked kinase (ILK). To elucidate the molecular mechanisms whereby integrins control these processes, we have specifically inactivated the ILK gene in growth plate chondrocytes using the Cre-lox methodology. Mice carrying an ILK allele flanked by loxP sites (ILK-fl) were crossed to transgenic mice expressing the Cre recombinase under the control of the collagen type II promoter. Inactivation of both copies of the ILK-fl allele lead to a chondrodysplasia characterized by a disorganized growth plate and to dwarfism. Expression of chondrocyte differentiation markers such as collagen type II, collagen type X, Indian hedgehog and the PTH-PTHrP receptor was normal in ILK-deficient growth plates. In contrast, chondrocyte proliferation, assessed by BrdU or proliferating cell nuclear antigen labeling, was markedly reduced in the mutant growth plates. Cell-based assays showed that integrin-mediated adhesion of primary cultures of chondrocytes from mutant animals to collagen type II was impaired. ILK inactivation in chondrocytes resulted in reduced cyclin D1 expression, and this most likely explains the defect in chondrocyte proliferation observed when ILK is inactivated in growth plate cells. PMID:12835312

  5. Being qua becoming: Aristotle's "Metaphysics", quantum physics, and Process Philosophy

    NASA Astrophysics Data System (ADS)

    Johnson, David Kelley

    In Aristotle's First Philosophy, science and philosophy were partners, but with the rise of empiricism, went their separate ways. Metaphysics combined the rational and irrational (i.e. final cause/unmoved mover) elements of existence to equate being with substance, postulating prime matter as pure potential that was actuated by form to create everything. Modern science reveres pure reason and postulates its theory of being by a rigorous scientific methodology. The Standard Model defines matter as energy formed into fundamental particles via forces contained in fields. Science has proved Aristotle's universe wrong in many ways, but as physics delves deeper into the quantum world, empiricism is reaching its limits concerning fundamental questions of existence. To achieve its avowed mission of explaining existence completely, physics must reunite with philosophy in a metascience modeled on the First Philosophy of Aristotle. One theory of being that integrates quantum physics and metaphysics is Process Philosophy.

  6. The metaphysical lessons of synthetic biology and neuroscience.

    PubMed

    Baertschi, Bernard

    2015-01-01

    In this paper, I examine some important metaphysical lessons that are often presented as derived from two new scientific disciplines: synthetic biology and neuroscience. I analyse four of them: the nature of life, the existence of a soul (the mind-body problem), personhood, and free will. Many caveats are in order, and each 'advance' or each case should be assessed for itself. I conclude that a main lesson can nevertheless be learned: in conjunction with modern science, neuroscience and synthetic biology allow us to enrich old metaphysical debates, to deepen and even renew them. In particular, it becomes less and less plausible to consider life, mind, person, and agency as non-natural or non-physical entities. Copyright © 2015 Académie des sciences. Published by Elsevier SAS. All rights reserved.

  7. Foucauldian diagnostics: space, time, and the metaphysics of medicine.

    PubMed

    Bishop, Jeffrey P

    2009-08-01

    This essay places Foucault's work into a philosophical context, recognizing that Foucault is difficult to place and demonstrates that Foucault remains in the Kantian tradition of philosophy, even if he sits at the margins of that tradition. For Kant, the forms of intuition-space and time-are the a priori conditions of the possibility of human experience and knowledge. For Foucault, the a priori conditions are political space and historical time. Foucault sees political space as central to understanding both the subject and objects of medicine, psychiatry, and the social sciences. Through this analysis one can see that medicine's metaphysics is a metaphysics of efficient causation, where medicine's objects are subjected to mechanisms of efficient control.

  8. Psychotherapy: What's Metaphysical Got to Do With It?

    PubMed

    Sansone, Randy A; Sansone, Lori A

    2009-12-01

    Clinicians have a number of treatment options for dealing with the emotional ills of patients, including psychoeducation, psychotherapy, and pharmacotherapy. However, after years of experience in the clinical field, we have recognized that these treatment options may not be sufficient to adequately address the problems of some patients. We have found that adding a metaphysical/spiritual component may be helpful, particularly for those patients with histories of childhood trauma. In this edition of The Interface, we discuss four metaphysical techniques for facilitating patient healing-1) refocusing on the present, 2) reframing adversity, 3) practicing surrender, and 4) meditation. These approaches can be mutually integrated and compliment a psychological treatment in either the psychiatric or primary care setting, regardless of whether or not the patient has formal religious beliefs.

  9. Pyle disease (metaphyseal dysplasia) presenting in two adult sisters.

    PubMed

    Soares, Diego Ximenes; Almeida, Amália Mapurunga; Barreto, André Rodrigues Façanha; Alencar E Silva, Ilze Jucá; de Castro, José Daniel Vieira; Magalhães Pinto, Francisco José; Dias, Daniel Aguiar; Aguiar, Lindenberg Barbosa

    2016-12-01

    Pyle's disease is an extremely rare skeletal disorder characterized by a benign course and an autosomal recessive genetic pattern of inheritance. Its causal mutation is still unknown. In the medical literature, fewer than 30 cases have been described to date. We report the case of two female siblings, daughters of consanguineous parents, referred to the radiology department complaining of genu valgum. Laboratory tests showed no other relevant findings. Conventional radiography plain films revealed Erlenmeyer flask deformity in bilateral femorotibial metaphyses, metaphyseal flaring of long bones, and mild sclerosis of the skull base. The clinicoradiological dissociation, along with the characteristic imaging findings, was consistent with the diagnosis of Pyle's disease. Intervention is not required in most cases, but orthopedic treatment may be required for genu valgum or fractures. Therefore, these cases emphasize the pivotal role conventional radiography plays in the correct diagnosis of this rare entity, allowing for appropriate genetic counseling.

  10. Beware of mereologists bearing gifts: prolegomena to a medical metaphysics.

    PubMed

    Khushf, George

    2013-10-01

    This essay considers implications of formal mereologies and ontologies for medical metaphysics. Edward Fried's extensional mereological account of the human body is taken as representative of a prominent strand in analytic metaphysics that has close affinities with medical positivism. I show why such accounts fail. First, I consider how Fried attempts to make sense of the medical case of Barney Clark, the first recipient of an artificial heart, and show that his analytic metaphysical categories do not have the right kind of fit with the case. A proper medical metaphysic should involve a richer two way dialogue with medicine, and it should not just "apply" formal accounts worked out in other settings. Second, I argue that any effort to account for real wholes with extensional mereological sums requires all sorts of ad hoc, supplementary mechanisms that do the real work, and the full repertoire of these mechanisms involves inconsistencies and semantic shifts. Finally, I consider an alternative strand of work on non-extensional whole/part relations that is closer to medicine and that can deepen reflection on some core problems in bioethics, for example, associated with the determination of death when an organism ceases to function as a whole. In addition to the utility such formal ontologies have for addressing traditional problems such as the determination of death, philosophers of medicine should appreciate the increasingly influential role such formal tools are playing in the development of data system ontologies. Assumptions integral to these ontologies have far reaching implications for the way future research and practice in medicine will be conducted, and much greater critical reflection is needed on the full range of issues associated with the development and use of such medical ontologies.

  11. Probing the limits of reality: the metaphysics in science fiction

    NASA Astrophysics Data System (ADS)

    Taylor, John L.

    2003-01-01

    Science fiction provides a genre in which metaphysical questions concerning the ultimate structure of reality regularly arise. In addressing these questions, contemporary scientists tend to assume that the questions are of a scientific nature and should be handled solely by reference to our best theories. In this paper, it is argued that we cannot afford to neglect the role of conceptual analysis - a distinctively philosophical task - in thinking critically about the possibilities that science fiction claims to describe.

  12. Semantics and metaphysics in informatics: toward an ontology of tasks.

    PubMed

    Figdor, Carrie

    2011-04-01

    This article clarifies three principles that should guide the development of any cognitive ontology. First, that an adequate cognitive ontology depends essentially on an adequate task ontology; second, that the goal of developing a cognitive ontology is independent of the goal of finding neural implementations of the processes referred to in the ontology; and third, that cognitive ontologies are neutral regarding the metaphysical relationship between cognitive and neural processes. Copyright © 2011 Cognitive Science Society, Inc.

  13. Defining human death: an intersection of bioethics and metaphysics.

    PubMed

    Manninen, Bertha Alvarez

    2009-01-01

    For many years now, bioethicists, physicians, and others in the medical field have disagreed concerning how to best define human death. Different theories range from the Harvard Criteria of Brain Death, which defines death as the cessation of all brain activity, to the Cognitive Criteria, which is based on the loss of almost all core mental properties, e.g., memory, self-consciousness, moral agency, and the capacity for reason. A middle ground is the Irreversibility Standard, which defines death as occurring when the capacity for consciousness is forever lost. Given all these different theories, how can we begin to approach solving the issue of how to define death? I propose that a necessary starting point is discussing an even more fundamental question that properly belongs in the philosophical field of metaphysics: we must first address the issue of diachronic identity over time, and the persistence conditions of personal identity. In this paper, I illustrate the interdependent relationship between this metaphysical question and questions concerning the definition of death. I also illustrate how it is necessary to antecedently attend to the metaphysical issue of defining death before addressing certain issues in medical ethics, e.g., whether it is morally permissible to euthanize patients in persistent vegetative states or procure organs from anencephalic infants.

  14. Metaphysical Underdetermination and Logical Determination: the Case of Quantum Mechanics

    NASA Astrophysics Data System (ADS)

    Arenhart, Jonas R. B.

    2014-03-01

    The `underdetermination of metaphysics by the physics' is the thesis that our best scientific theories do not uniquely determine their ontologies. Non-relativistic quantum mechanics is famously thought to exemplify this kind of underdetermination: it may be seen as compatible with both an ontology of individual objects and with an ontology of non-individual objects. A possible way out of the dilema thus created consists in adopting some version of Ontic Structural Realism (OSR), a view according to which the metaphysically relevant aspect of the theory is its structure, not the nature of the objects dealt with. According to OSR, particular objects may be dispensed with (eliminated or re-conceptualized) in favor of the structure of the theory. In this paper we shall argue that the underdetermination of metaphysics by the physics is a consequence of a too strict naturalism in ontology. As a result, when a mitigated ontological naturalism is taken into account, underdetermination does not appear to have such dark consequences for object-oriented ontologies in quantum mechanics.

  15. Natural kinds in evolution and systematics: metaphysical and epistemological considerations.

    PubMed

    Brigandt, Ingo

    2009-06-01

    Despite the traditional focus on metaphysical issues in discussions of natural kinds in biology, epistemological considerations are at least as important. By revisiting the debate as to whether taxa are kinds or individuals, I argue that both accounts are metaphysically compatible, but that one or the other approach can be pragmatically preferable depending on the epistemic context. Recent objections against construing species as homeostatic property cluster kinds are also addressed. The second part of the paper broadens the perspective by considering homologues as another example of natural kinds, comparing them with analogues as functionally defined kinds. Given that there are various types of natural kinds, I discuss the different theoretical purposes served by diverse kind concepts, suggesting that there is no clear-cut distinction between natural kinds and other kinds, such as functional kinds. Rather than attempting to offer a unique metaphysical account of 'natural' kind, a more fruitful approach consists in the epistemological study of how different natural kind concepts are employed in scientific reasoning.

  16. Langerhans cell histiocytosis case with dense metaphyseal band sign.

    PubMed

    Kikkawa, Ichiro; Aihara, Toshinori; Morimoto, Akira; Watanabe, Hideaki; Furukawa, Rieko

    2013-02-01

    Eosinophilic granuloma, a type of Langerhans cell histiocytosis, exhibits a classic vertebral collapse, which is called vertebra plana (Calve's disease) and it manifests as a solitary bony lesion. Vertebra plana can cause severe pain in patients. Bisphosphonates (clodronate, pamidronate and zoledronic acid) have been recently used to treat osteolytic bone lesions of LCH. Zoledronic acid has 100 times relative potency that of pamidronate. We report a case of a 10-year-old girl who had zoledronic acid treatment for severe back pain due to vertebra plana. X-ray photographs of the patient's body showed dense metaphyseal band sign, which can be found in lead poisoning, treated leukemia, healing rickets, recovery from scurvy, vitamin D hypervitaminosis, congenital hypothyroidism and hypoparathyroidism. Increased biological potent zoledronic acid deprived her of severe back pain due to vertebra plana and might cause dense metaphyseal band sign of her skeleton. Conclusion; We have cured the severe back pain of a 10-year-old girl case of eosinophilic granuloma with zoledronic acid. After that treatment, X-ray photographs of the patient's body showed dense metaphyseal band sign. There have been few such cases reported until now.

  17. Intrafocal pinning for distal radius metaphyseal fractures in children.

    PubMed

    Parikh, Shital N; Jain, Viral V; Youngquist, Jeffrey

    2013-06-01

    The purpose of this retrospective case control study was to evaluate the results of intrafocal pinning for distal radius metaphyseal fractures in children and to compare these results with conventional pinning. Data were collected from medical records and radiographs from patients who underwent closed reduction and percutaneous pinning for distal radius fracture in a Level I trauma center at the authors' institution between 2008 and 2010. Inclusion criteria included a dorsally angulated metaphyseal fracture without physeal involvement, an open distal radius physis, and a follow-up to radiographic union. A total of 10 patients with intrafocal pinning were compared to 26 patients with conventional pinning. Preoperatively, angulation was greater in patients who received intrafocal pinning than conventional pinning based on anteroposterior radiographs. Postoperatively, the 2 groups did not differ in angulation on either anteroposterior or lateral radiographs. One malunion and 2 pin-related complications occurred in the conventional pinning group, and 1 pin-related complication occurred in the intrafocal pinning group. The 2 groups did not differ by age, sex, side of injury, days to surgery, or initial shortening. This study affirms that the intrafocal pinning technique is an alternative to the conventional pinning technique for the stabilization of displaced metaphyseal distal radius fractures in children. Intrafocal pinning can also be used as a reduction tool for fractures that cannot be reduced by closed manipulation. The complications are comparable between the 2 techniques.

  18. Johann Christoph Sturm's universal mathematics and metaphysics (German Title: Universalmathematik und Metaphysik bei Johann Christoph Sturm)

    NASA Astrophysics Data System (ADS)

    Leinsle, Ulrich G.

    In order to understand Sturm's concept of a universal mathematics as a replacement or complement of metaphysics, one first has to examine the evolution of the idea of a mathesis universalis up to Sturm, and his concept of metaphysics. According to the understanding of those times, natural theology belongs to metaphysics. The last section is concerned with Sturm's statements on the existence of God and his assessments for a physico-theology.

  19. Plasmalogens and fatty alcohols in rhizomelic chondrodysplasia punctata and Sjögren-Larsson syndrome.

    PubMed

    Malheiro, Ana R; da Silva, Tiago Ferreira; Brites, Pedro

    2015-01-01

    Plasmalogens are a special class of ether-phospholipids, best recognized by their vinyl-ether bond at the sn-1 position of the glycerobackbone and by the observation that their deficiency causes rhizomelic chondrodysplasia punctata (RCDP). The complex plasmalogen biosynthetic pathway involves multiple enzymatic steps carried-out in peroxisomes and in the endoplasmic reticulum. The rate limiting step in the biosynthesis of plasmalogens resides in the formation of the fatty alcohol responsible for the formation of an intermediate with an alkyl-linked moiety. The regulation in the biosynthesis of plasmalogens also takes place at this step using a feedback mechanism to stimulate or inhibit the biosynthesis. As such, fatty alcohols play a relevant role in the formation of ether-phospholipids. These advances in our understanding of complex lipid biosynthesis brought two seemingly distinct disorders into the spotlight. Sjögren-Larsson syndrome (SLS) is caused by defects in the microsomal fatty aldehyde dehydrogenase (FALDH) leading to the accumulation of fatty alcohols and fatty aldehydes. In RCDP cells, the defect in plasmalogens is thought to generate a feedback signal to increase their biosynthesis, through the activity of fatty acid reductases to produce fatty alcohols. However, the enzymatic defects in either glyceronephosphate O-acyltransferase (GNPAT) or alkylglycerone phosphate synthase (AGPS) disrupt the biosynthesis and result in the accumulation of the fatty alcohols. A detailed characterization on the processes and enzymes that govern these intricate biosynthetic pathways, as well as, the metabolic characterization of defects along the pathway should increase our understanding of the causes and mechanisms behind these disorders.

  20. Brachytelephalangic chondrodysplasia punctata: a case series to further delineate the phenotype.

    PubMed

    Gupta, Neerja; Ghosh, Manju; Shukla, Rashmi; Das, Ganesh Prasad; Kabra, Madhulika

    2012-07-01

    Chondrodysplasia punctata (CDP) is a heterogenous group of skeletal dysplasias characterized by aberrant bone mineralization, manifesting radiologically as epiphyseal stippling. Among this group, brachytelephalangic dysplasia, a benign form of CDP (CDPX1), is probably under-reported. It is an X-linked recessive disorder and is characterized by a flat nasal tip, short columella and maxillary hypoplasia, involvement of terminal phalanges, and stippled chondrodystrophy. This paper presents a clinical series of 13 patients with brachytelephalangic dysplasia. These patients enrolled during 2002-2006 were re-evaluated and their dysmorphic features were compiled in a predesigned proforma. Skeletal survey, karyotype, cardiac evaluation, and ophthalmic evaluation were planned for all the cases. Out of 13 patients, 10 were males and three were females. All patients had flat facies, a depressed nasal bridge, a hypoplastic nose, a short philtrum, notched alae nasi, brachydactyly, and hypoplastic terminal phalanges. In addition, congenital heart disease, optic nerve hypoplasia, and developmental delay were found in a few patients. Radiography showed hypoplastic terminal phalanges, delayed bone age (1/13), epiphyseal stippling in carpal (3/13) and tarsal bones (2/13), sacral bone (1/13), and bullet-shaped lumbar vertebra (1/13). Cranial neuroimaging, thyroid profile, and karyotype carried out in a few were normal. The present paper discusses various clinical features and associated abnormalities in patients with brachytelephalangic dysplasia (CDPX1) to further delineate the phenotype. The presence of a similar phenotype in females suggests the possibility of another locus or manifestation of disease in heterozygous females. Arylsulfatase E gene analysis would further help in establishing the genotype-phenotype correlation.

  1. Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?

    PubMed

    Unger, Sheila; Lausch, Ekkehart; Stanzial, Franco; Gillessen-Kaesbach, Gabriele; Stefanova, Irina; Di Stefano, Cristina Maria; Bertini, Enrico; Dionisi-Vici, Carlo; Nilius, Bernd; Zabel, Bernhard; Superti-Furga, Andrea

    2011-11-01

    Dominant mutations in the receptor calcium channel gene TRPV4 have been associated with a family of skeletal dysplasias (metatropic dysplasia, pseudo-Morquio type 2, spondylometaphyseal dysplasia, Kozlowski type, brachyolmia, and familial digital arthropathy) as well as with dominantly inherited neuropathies (hereditary motor and sensory neuropathy 2C, scapuloperoneal spinal muscular atrophy, and congenital distal spinal muscular atrophy). While there is phenotypic overlap between the various members of each group, the two groups were considered to be totally separate with the former being strictly a structural skeletal condition and the latter group being confined to the peripheral nervous system. We report here on fetal akinesia as the presenting feature of severe metatropic dysplasia, suggesting that certain TRPV4 mutations can cause both a skeletal and a neuropathic phenotype. Three cases were detected on prenatal ultrasound because of absent movements in the second trimester. Case 4 presented with multiple joint contractures and absent limb movements at birth and was diagnosed with "fetal akinesia syndrome". Post-interruption and post-natal X-rays showed typical features of metatropic dysplasia in all four. Sequencing of the TRPV4 gene confirmed the presence of de novo heterozygous mutations predicting G78W (Case 1), T740I (Cases 2 and 3), and K276E (Case 4). Although some degree of restriction of movements is not uncommon in fetuses with skeletal dysplasia, akinesia as leading sign is unusual and suggests that certain TRPV4 mutations produce both chondrodysplasia and a peripheral neuropathy resulting in a severe "overlap" phenotype. Copyright © 2011 Wiley Periodicals, Inc.

  2. Fall and Rise of Aristotelian Metaphysics in the Philosophy of Science

    NASA Astrophysics Data System (ADS)

    Lamont, John

    2009-06-01

    The paper examines the fortunes of Aristotelian metaphysics in science and the philosophy of science. It considers the Enlightenment claim that such a metaphysics is fundamentally unscientific, and that its abandonment was essential to the scientific revolution. The history of the scientific revolution and the metaphysical debates involved in it is examined, and it is argued that the eclipse of Aristotelian views was neither complete, nor merited. The evolution of Humeian and positivist accounts of science is described, and it is shown how the severe problems with these accounts, together with a revival of Aristotelian concepts in philosophy, have led to the rebirth of broadly Aristotelian accounts of the metaphysics underlying science.

  3. Chondrodysplasia punctata associated with maternal autoimmune diseases: expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report of eight cases.

    PubMed

    Chitayat, David; Keating, Sarah; Zand, Dina J; Costa, Teresa; Zackai, Elaine H; Silverman, Earl; Tiller, George; Unger, Sheila; Miller, Stephen; Kingdom, John; Toi, Ants; Curry, Cynthia J R

    2008-12-01

    Chondrodysplasia punctata (CDP) is etiologically a heterogeneous condition and has been associated with single gene disorders, chromosome abnormalities and teratogenic exposures. The first publication of the association between CDP and maternal autoimmune connective tissue disorder was by Curry et al. 1993]. Chondrodysplasia punctata associated with maternal collagen vascular disease. A new etiology? Presented at the David W. Smith Workshop on Morphogenesis and Malformations, Mont Tremblant, Quebec, August 1993] and subsequently, other cases have been reported. We report on eight cases of maternal collagen vascular disease associated with fetal CDP and included the cases reported by Curry et al. 1993. Chondrodysplasia punctata associated with maternal collagen vascular disease. A new etiology? Presented at the David W. Smith Workshop on Morphogenesis and Malformations, Mont Tremblant, Quebec, August 1993] and Costa et al. [1993]. Maternal systemic lupus erythematosis (SLE) and chondrodysplasia punctata in two infants. Coincidence or association? 1st Meeting of Bone Dysplasia Society, Chicago, June 1993] which were reported in an abstract form. We suggest that maternal autoimmune diseases should be part of the differential diagnosis and investigation in newborns/fetuses with CDP. Thus, in addition to cardiac evaluation, fetuses/newborn to mothers with autoimmune diseases should have fetal ultrasound/newborn examination and if indicated, X-rays, looking for absent/hypoplastic nasal bone, brachydactyly, shortened long bones and epiphyseal stippling. Copyright (c) 2008 Wiley-Liss, Inc.

  4. Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): Evidence for a phenotypic series involving three chondrodysplasias

    SciTech Connect

    Haestbacka, J.; Lander, E.S.; Superti-Furga, A.

    1996-02-01

    Atelosteogenesis type II (AO II) is a neonatally lethal chondrodysplasia whose clinical and histological characteristics resemble those of another chondrodysplasia, the much less severe diastrophic dysplasia (DTD). The similarity suggests a shared pathogenesis involving lesions in the same biochemical pathway and perhaps the same gene. DTD is caused by mutations in the recently identified diastrophic dysplasia sulfate-transporter gene (DTDST). Here, we report that AOII patients also have DTDST mutations, which lead to defective uptake of inorganic sulfate and insufficient sulfation of macromolecules by patient mesenchymal cells in vitro. Together with our recent observation that a third even more severe chondrodysplasia, achondrogenesis type IB, is also caused by mutations in DTDST, these results demonstrate a phenotypic series of three chondrodysplasias of increasing severity caused by lesions in a single sulfate-transporter gene. The severity of the phenotype appears to be correlated with the predicted effect of the mutations on the residual activity of the DTDST protein. 24 refs., 6 figs., 1 tab.

  5. SSCP and segregation analysis of the human type X collagen gene (COL10A1) in heritable forms of chondrodysplasia

    SciTech Connect

    Sweetman, W.A.; Rash, B.; Thomas, J.T.; Boot-Handford, R.; Grant, M.E.; Wallis, G.A. ); Sykes, B. ); Beighton, P. ); Hecht, J.T. ); Zabell, B. )

    1992-10-01

    Type X collagen is a homotrimeric, short chain, nonfibrillar collagen that is expressed exclusively by hypertrophic chondrocytes at the sites of endochondral ossification. The distribution and pattern of expression of the type X collagen gene (COL10A1) suggests that mutations altering the structure and synthesis of the protein may be responsible for causing heritable forms of chondrodysplasia. The authors investigated whether mutations within the human COL10A1 gene were responsible for causing the disorders achondroplasia, hypochondroplasia, pseudoachondroplasia, and thanatophoric dysplasia, by analyzing the coding regions of the gene by using PCR and the single-stranded conformational polymorphism technique. By this approach, seven sequence changes were identified within and flanking the coding regions of the gene of the affected persons. The authors demonstrated that six of these sequence changes were not responsible for causing these forms of chondrodysplasia but were polymorphic in nature. The sequence changes were used to demonstrate discordant segregation between the COL10A1 locus and achondroplasia and pseudoachondroplasia, in nuclear families. This lack of segregation suggests that mutations within or near the COL101A1 locus are not responsible for these disorders. The seventh sequence change resulted in a valine-to-methionine substitution in the carboxyl-terminal domain of the molecule and was identified in only two hypochondroplasic individuals from a single family. Segregation analysis in this family was inconclusive, and the significance of this substitution remains uncertain. 47 refs., 3 figs., 2 tabs.

  6. Patients' substantialization of disease, the hybrid symptom and metaphysical care.

    PubMed

    Pârvan, Alexandra

    2015-06-01

    In the context of current scholarship concerned with facilitating integration between the biomedical and the patient-centred models of care, the article suggests that disease brings about an ontological disruption in patients, which is not directly addressed in either model, and may interfere with treatment and therapy outcomes if not met with a type of care termed here as 'metaphysical'. The receipt of diagnosis and medical care can give patients the sense that they are ontologically diminished, or less of a human, and along with physicians' approaches to and discourses about disease, may prompt them to seek ontological restoration or security in the same way as psychologically traumatized patients sometimes do: by treating the disease and/or the experience of harm associated with it as a thing that exists per se. I call this 'substantialization' of disease (or harm) and draw on Augustine's theory of non-substantial deficiencies (physiological and moral) and on Plato's and Plotinus's different takes on such defects in order to discuss what substantialization can do for patients. Based on literature that examines patients' ways of talking about and living with their disease, I speculate that substantialization can generate a 'hybrid symptom', consisting in patterns of exercising agency which may predispose to non-adherence. Ways in which physicians could provide metaphysical care are proposed, along with an understanding of chronic patients as hybrid ontological and agentic units, which draws on theories of enactive cognition. I opine that metaphysical care may facilitate integration between the depersonalized and personalized models of care. © 2014 John Wiley & Sons, Ltd.

  7. Infanticide for handicapped infants: sometimes it's a metaphysical dispute.

    PubMed Central

    Long, T A

    1988-01-01

    Since 1973 the practice of infanticide for some severely handicapped newborns has been receiving more open discussion and defence in the literature on medical ethics. A recent and important argument for the permissibility of infanticide relies crucially on a particular concept of personhood that excludes the theological. This paper attempts to show that the dispute between the proponents of infanticide and their religious opponents cannot be resolved because one side's perspective on the infant is shaped by a metaphysics that is emphatically rejected by the other. In such a situation philosophical argument is powerless to bring about a resolution because there can be no refutation of one side by the other. PMID:2969052

  8. Rejecting medical humanism: medical humanities and the metaphysics of medicine.

    PubMed

    Bishop, Jeffrey P

    2008-03-01

    The call for a narrative medicine has been touted as the cure-all for an increasingly mechanical medicine. It has been claimed that the humanities might create more empathic, reflective, professional and trustworthy doctors. In other words, we can once again humanise medicine through the addition of humanities. In this essay, I explore how the humanities, particularly narrative medicine, appeals to the metaphysical commitments of the medical institution in order to find its justification, and in so doing, perpetuates a dualism of humanity that would have humanism as the counterpoint to the biopsychosociologisms of our day.

  9. Delayed-Choice Experiments and the Metaphysics of Entanglement

    NASA Astrophysics Data System (ADS)

    Egg, Matthias

    2013-09-01

    Delayed-choice experiments in quantum mechanics are often taken to undermine a realistic interpretation of the quantum state. More specifically, Healey has recently argued that the phenomenon of delayed-choice entanglement swapping is incompatible with the view that entanglement is a physical relation between quantum systems. This paper argues against these claims. It first reviews two paradigmatic delayed-choice experiments and analyzes their metaphysical implications. It then applies the results of this analysis to the case of entanglement swapping, showing that such experiments pose no threat to realism about entanglement.

  10. The metaphysical art of Giorgio de Chirico. Migraine or epilepsy?

    PubMed

    Blanke, Olaf; Landis, Theodor

    2003-01-01

    It has been suggested that the great Italian painter Giorgio de Chirico (1888-1978), who developed the unique style of 'metaphysical art', suffered from migraine and used some of his morbid manifestations as a source of inspiration for his paintings. Yet, whereas many of the symptoms that de Chirico described are rare in migraine, they are frequently encountered in patients with temporal lobe epilepsy. Here we rediscuss de Chirico's symptoms critically and suggest that, if his symptoms were of neurological origin, they rather relate to temporal lobe epilepsy than migraine.

  11. Calcium sulfate cement in contained traumatic metaphyseal bone defects.

    PubMed

    Drosos, Georgios I; Ververidis, Athanasios; Babourda, Eleni C; Kakagia, Despoina; Verettas, Dionisios-Alexandros

    2012-12-01

    The aim of this study was to evaluate prospective patients with periarticular fractures where a meta physeal bone defect was grafted with high compressive calcium sulfate cement. The calcium sulfate cement MIIG X3, (Wright Medical Technology, Inc, Arlington, TN) was used in 45 patients with periarticular fractures--distal radial, tibial plateau, humeral head, and calcaneal fractures--to fill the metaphyseal defect. All fractures were treated either with open or closed reduction, fracture fixation, and the cement was applied openly or closed. Radiographs were evaluated for fracture reduction, joint line gap, and step, as well as for rate of graft replacement by bone. All fractures united without an additional procedure. There were no wound infections or other complications attributed to the graft. At three-month follow-up, a complete graft replacement by bone was observed in all fractures. Joint line step was not developed in any patient, but a joint line gap of 3 mm was observed postoperatively in one patient with a tibial plateau fracture. Loss of reduction occurred in one patient with an extra-articular distal radial fracture treated with closed reduction and k-wire fixation. Cement that escaped into the joint or the surrounding soft tissues was not visible at the six-week follow-up. In conclusion, the results of this study confirm the safety and the efficacy of this cement when it is used as graft with the appropriate fixation method in traumatic metaphyseal bone defects.

  12. The will: from metaphysical freedom to normative functionalism.

    PubMed

    Felthous, Alan R

    2008-01-01

    Free will is regarded by some as the most and by others as the least relevant concept for criminal responsibility. Contributions from religious and philosophical thinkers over the classical and medieval Christian eras demonstrate that, despite the passionate and historically consequential debates over the meaning of "freedom," the unifying theme that joined the will with the intellect remained persistent and pervasive. Leading historical jurists in England eventually dropped the descriptor "free," but retained the central importance of the will to criminal responsibility and emphasized its dependence on the intellect to function properly. Modern rationalist philosophers denied the will's metaphysical freedom, but not its existence. Today the neurosciences reveal more and more about how the will functions, even as lawyers and psychiatrists hesitate to utter the word. In properly avoiding metaphysical freedom within forensic inquiry and discourse, it is a grave conceptual mistake to overlook the will itself. Once greater conceptual clarity on the empirical nature of the will is achieved and accepted, the law itself could rediscover the core mental faculty behind human agency, the will.

  13. DNA-based association and description of the larval stage of Apatania helvetica Schmid 1954 (Trichoptera, Apataniidae) with notes on ecology and zoogeography

    PubMed Central

    WARINGER, JOHANN; LUBINI, VERENA; HOPPELER, FELICITAS; PAULS, STEFFEN U.

    2016-01-01

    This paper describes the hitherto unknown larva of Apatania helvetica Schmid 1954. Sequence data from the mitochondrial cytochrome c oxidase region were used to associate adult females and larvae. Genetic data confirmed the autochthonous status of this taxon within the parthenogenetic Apatania muliebris complex (‘sous groupe’) sensu Schmid 1954. Information on the morphology of the larva is given, and the most important diagnostic features are illustrated. Apatania helvetica is morphologically close to Apatania muliebris McLachlan 1866 and A. fimbriata (Pictet 1834). In the context of Apataniidae, this trio of species can be separated by the presence of long tapering setae with flexuous tips at the anterior border of the pronotum, by a central gap within the transverse setal band on the 1st abdominal dorsum, by biometry of the frontoclypeal setation and by their distribution ranges in Europe. With respect to European ecoregions (Graf et al. 2008), Apatania muliebris has been recorded from the Alps, the central plains and highlands, the Baltic province, Great Britain, Ireland and Scandinavia; A. fimbriata is known from the Alps, the western and central highlands, the western plains, the Hungarian lowlands and the Carpathians. A. helvetica is restricted to the Alps and has only been recorded in Switzerland. PMID:26624099

  14. The toothless osteopetrotic rat has a normal vitamin D-binding protein-macrophage activating factor (DBP-MAF) cascade and chondrodysplasia resistant to treatments with colony stimulating factor-1 (CSF-1) and/or DBP-MAF.

    PubMed

    Odgren, P R; Popoff, S N; Safadi, F F; MacKay, C A; Mason-Savas, A; Seifert, M F; Marks, S C

    1999-08-01

    The osteopetrotic rat mutation toothless (tl) is characterized by little or no bone resorption, few osteoclasts and macrophages, and chondrodysplasia at the growth plates. Short-term treatment of tl rats with colony-stimulating factor-1 (CSF-1) has been shown to increase the number of osteoclasts and macrophages, producing dramatic resolution of skeletal sclerosis at some, but not all, sites. Defects in production of vitamin D-binding protein-macrophage activating factor (DBP-MAF) have been identified in two other independent osteopetrotic mutations of the rat (op and ia), and two in the mouse (op and mi), in which macrophages and osteoclasts can be activated by the administration of exogenous DBP-MAF. The present studies were undertaken to examine the histology and residual growth defects in tl rats following longer CSF-1 treatments, to investigate the possibility that exogenous DBP-MAF might act synergistically with CSF-1 to improve the tl phenotype, and to assess the integrity of the endogenous DBP-MAF pathway in this mutation. CSF-1 treatment-with or without DBP-MAF-induced resorption of metaphyseal bone to the growth plate on the marrow side, improved slightly but did not normalize long bone growth, and caused no improvement in the abnormal histology of the growth plate. Injections of lysophosphatidylcholine (lyso-Pc) to prime macrophage activation via the DBP-MAF pathway raised superoxide production to similar levels in peritoneal macrophages from both normal and mutant animals, indicating no defect in the DBP-MAF pathway in tl rats. Interestingly, pretreatments with CSF-1 alone also increased superoxide production, although the mechanism for this remains unknown. In summary, we find that, unlike other osteopetrotic mutations investigated to date, the DBP-MAF pathway does not appear to be defective in the tl rat; that additional DBP-MAF does not augment the beneficial skeletal effects seen with CSF-1 alone; and that the growth plate chondrodystrophy seen in

  15. Identification of a novel missense mutation of PEX7 gene in an Iranian patient with rhizomelic chondrodysplasia punctata type 1.

    PubMed

    Mohamadynejad, Parisa; Ghaedi, Kamran; Shafeghati, Yousef; Salamian, Ahmad; Tanhaie, Somayeh; Karamali, Fereshteh; Rabiee, Farzaneh; Parivar, Kazem; Baharvand, Hossein; Nasr-Esfahani, Mohammad Hossein

    2013-04-15

    Deficiency in the PTS2 protein import pathway due to mutations in PEX7 gene results in the rhizomelic chondrodysplasia punctata (RCDP) type 1. In the present study, we have reported a novel missense mutation, W75R, in the PEX7 gene in an Iranian patient with the RCDP type 1. The inability of PEX7 protein to transport PTS2 containing proteins including peroxisomal 3-ketoacyl-CoA thiolase and PTS2-EGFP protein to the surface of the peroxisomes showed that the W75R mutation in PEX7 gene severely impaired the function of PEX7 protein and was responsible for RCDP type 1 in this patient. Copyright © 2013 Elsevier B.V. All rights reserved.

  16. C86Y: as a destructive homozygous mutation deteriorating Pex7p function causing rhizomelic chondrodysplasia punctata type I.

    PubMed

    Salamian, Ahmad; Mohamadynejad, Parisa; Ghaedi, Kamran; Nejati, Alireza Shoaraye; Shafeghati, Yousef; Ahnak, Mehdi Borhani; Nematollahi, Marzieh; Karbalaie, Khadijeh; Hadipour, Fatemeh; Baharvand, Hossein; Nasr-Esfahani, Mohammad Hossein

    2013-01-01

    Rhizomelic Chondrodysplasia Punctata (RCDP) type 1 is a peroxisomal biogenesis disorder with a genetic abnormality in PEX7 gene. In the present study, mutational analysis was performed on two Iranian RCDP patients with distinct clinical phonotype. Mutation detection was carried out by sequencing of RT-PCR product consisting the whole length of PEX7 cDNA. Sequence data revealed the same missense homozygous mutation of G to A at nucleotide 257 in exon3 of PEX7 coding sequence in both patients. Moreover, genomic analysis of the PEX7 gene confirmed the RT-PCR data. This mutation caused one amino acid residue substitution of Cys to Tyr at codon 86 located on WD1 repeat domain region of Pex7p, which severely affected the functionality of PEX7 protein. Back-transfection of vector encoding mutant Pex7p did not restore the normal peroxisomal function in RCDP patient's fibroblast cells dissimilar to the native type of PEX7.

  17. Concurrent Chondrodysplasia Punctata Type 2 (Conradi-Hunermann-Happle Syndrome) and Ichthyosis Vulgaris in Teenaged Twin Girls.

    PubMed

    Jeong, Haneol S; Funari, Tara; Gordon, Katherine; Richard, Gabriele; Agim, Nnenna G

    2017-09-01

    We present concurrent X-linked chondrodysplasia punctata and ichthyosis vulgaris in adolescent fraternal twin girls, notable for initial presentation with dry skin in adolescence, characterized by dark-brown scale typical of ichthyosis vulgaris and blaschkolinear, atrophic, scaly plaques. This constellation of findings prompted further genetic investigation. Using a multigene approach to examine 39 genes associated with congenital ichthyosis, next-generation sequencing revealed a novel heterozygous missense mutation at a mutational hotspot in the EBP gene c.439C>T (p.R147C) in conjunction with a single nonsense mutation in the FLG gene (p.R501X) in both sisters. These individuals highlight the clinical variability of Conradi-Hunermann-Happle syndrome, illustrate the possibility of co-occurrence of rare and common forms of ichthyosis, and demonstrate the utility of multigene analysis. © 2017 Wiley Periodicals, Inc.

  18. Recurrent mutation in CDMP1 in a family with Grebe chondrodysplasia: broadening the phenotypic manifestation of syndrome in Pakistani population

    PubMed Central

    Mumtaz, Sara; Riaz, Hafiza Fizzah; Touseef, Mohammad; Basit, Sulman; Haque, Muhammad Faiyaz Ul; Malik, Sajid

    2015-01-01

    Grebe syndrome (OMIM-200700) is a very rare type of acromesomelic dysplasia with autosomal recessive inheritance. We studied a Pakistani family with two affected individuals having typical features of Grebe chondrodysplasia. Patients were observed with short and deformed limbs having a proximo-distal gradient of severity. Hind-limbs were more severely affected than fore-limbs. Digits on autopods were very short and nonfunctional. Index subject also had nearsightedness. However, symptoms in the craniofacial and axial skeleton were minimal. Genetic analysis revealed four base pair insertion mutation (c.1114insGAGT) in gene coding cartilage-derived morphogenetic protein-1 (CDMP1). This mutation was predicted to cause premature stop codon. The clinical presentation in this study broadens the range of phenotypes associated with CDMP1 mutation in Pakistani population. PMID:26870132

  19. Spreading disease: a controversy concerning the metaphysics of disease.

    PubMed

    D'Amico, R

    1998-01-01

    This article concerns the metaphysics of disease. Is disease a fixed feature of the world or a social value or preference? I argue that disease is not a value-laden concept and thus debates concerning it differ fundamentally from debates concerning health, harm, or suffering where evaluative judgements are central. I show how the so-called social constructionist view of disease has been motivated both by ethical concerns with medical practices and general theoretical doubts about scientific naturalism. If I can show that ethical concerns about medical treatment can be answered without adopting social constructionism, that leaves only the broader theoretical question of naturalism. I cannot completely answer those theoretical doubts, but I show that the theoretical motivation is less convincing when it is separated from the moral challenge often accompanying it. I conclude that a convincing defense of the non-naturalistic conception of disease is rarely attempted and proves more difficult and counter-intuitive than its proponents assume.

  20. On Some Troubles with the Metaphysics of Fermionic Compositions

    NASA Astrophysics Data System (ADS)

    Bigaj, Tomasz

    2016-09-01

    In this paper I discuss some metaphysical consequences of an unorthodox approach to the problem of the identity and individuality of "indistinguishable" quantum particles. This approach is based on the assumption that the only admissible way of individuating separate components of a given system is with the help of the permutation-invariant qualitative properties of the total system. Such a method of individuation, when applied to fermionic compositions occupying so-called GMW-nonentangled states, yields highly implausible consequences regarding the number of distinct components of a given composite system. I specify the problem (which I call the problem of fermionic inflation) in detail, and I consider several strategies of solving it. The preferred solution of the problem is based on the premise that spatial location should play a privileged role in identifying and making reference to quantum-mechanical systems.

  1. Particles, particle labels, and quanta: The toll of unacknowledged metaphysics

    SciTech Connect

    Redhead, M. ); Teller, P. )

    1991-01-01

    The practice of describing multiparticle quantum systems in terms of labeled particles indicates that the authors think of quantum entities as individuatable. The labels, together with particle indistinguishability, create the need for symmetrization or antisymmetrization (or, in principle, higher-order symmetries), which in turn results in surplus formal structure' in the formalism, formal structure which corresponds to nothing in the real world. The authors argue that these facts show quanta to be unindividuatable entities, things in principle incapable of supporting labels, and so things which support no factual difference if two of them are thought of as being switched. When thinking of the metaphysics of quanta, one should eschew the misleading labels of the tensor product Hilbert space formalism and prefer the ontologically more faithful description of the Fock space formalism. This conception eliminates puzzles about the quantum statistics of bosons.

  2. Pragmatism, metaphysics, and bioethics: beyond a theory of moral deliberation.

    PubMed

    Pamental, Matthew

    2013-12-01

    Pragmatism has been understood by bioethicists as yet another rival in the "methods wars," as yet another theory of moral deliberation. This has led to criticism of pragmatic bioethics as both theoretically and practically inadequate. Pragmatists' responses to these objections have focused mainly on misunderstandings of pragmatism's epistemology. These responses are insufficient. Pragmatism's commitment to radical empiricism gives it theoretical resources unappreciated by critics and defenders alike. Radical empiricism, unlike its more traditional ancestors, undercuts the gaps between theory and practice, and subjective and objective accounts of experience, and in so doing provides the metaphysical and epistemological basis for a thoroughgoing empirical naturalism in ethics. Pragmatism's strength as an approach to moral problems thus emerges as a result of a much wider array of resources than contemporary interpreters have acknowledged, which makes it a richer, deeper framework for understanding moral deliberation in general and bioethical decision making in particular.

  3. Heterologous embryo transfer: Magisterial answers and metaphysical questions

    PubMed Central

    Accad, Michel

    2014-01-01

    The debate regarding the morality of heterologous embryo transfer (HET) as a solution for the fate of cryopreserved embryos remains active. This paper endeavors to show that the magisterial instructions on bioethical issues can only lead to the conclusion that HET is always morally illicit. I begin by showing that the text of Dignitas personae recognizes HET as a procedure accomplishing a procreative function, and I indicate that it is through gestation that this procreative function occurs. I further show that the previous Instruction, Donum vitae, implicitly points to an ontological or spiritual consideration at play during gestation. This consideration is likely related to the procreative function identified in Dignitas personae. Finally, I place these two textual arguments in the context of the debate concerning HET and conclude that metaphysical questions must be clarified in order for the immorality of HET to be understood from a suitable anthropological perspective and gain more widespread acceptance. PMID:24899737

  4. Metaphysical and ethical perspectives on creating animal-human chimeras.

    PubMed

    Eberl, Jason T; Ballard, Rebecca A

    2009-10-01

    This paper addresses several questions related to the nature, production, and use of animal-human (a-h) chimeras. At the heart of the issue is whether certain types of a-h chimeras should be brought into existence, and, if they are, how we should treat such creatures. In our current research environment, we recognize a dichotomy between research involving nonhuman animal subjects and research involving human subjects, and the classification of a research protocol into one of these categories will trigger different ethical standards as to the moral permissibility of the research in question. Are a-h chimeras entitled to the more restrictive and protective ethical standards applied to human research subjects? We elucidate an Aristotelian-Thomistic metaphysical framework in which to argue how such chimeras ought to be defined ontologically. We then examine when the creation of, and experimentation upon, certain types of a-h chimeras may be morally permissible.

  5. Heterologous embryo transfer: Magisterial answers and metaphysical questions.

    PubMed

    Accad, Michel

    2014-02-01

    The debate regarding the morality of heterologous embryo transfer (HET) as a solution for the fate of cryopreserved embryos remains active. This paper endeavors to show that the magisterial instructions on bioethical issues can only lead to the conclusion that HET is always morally illicit. I begin by showing that the text of Dignitas personae recognizes HET as a procedure accomplishing a procreative function, and I indicate that it is through gestation that this procreative function occurs. I further show that the previous Instruction, Donum vitae, implicitly points to an ontological or spiritual consideration at play during gestation. This consideration is likely related to the procreative function identified in Dignitas personae. Finally, I place these two textual arguments in the context of the debate concerning HET and conclude that metaphysical questions must be clarified in order for the immorality of HET to be understood from a suitable anthropological perspective and gain more widespread acceptance.

  6. Metaphysical accounts of the zygote as a person and the veto power of facts.

    PubMed

    Bole, T J

    1989-12-01

    That the soul of a human person is infused at conception is a metaphysical claim. But given its traditional articulation, it has the empirical consequence that the zygote must have a substantial continuity with the adult person, a continuity which is already determined at conception. This empirical consequence is contradicted by the fact that the zygote may become a hydatidiform mole, or several persons. The metaphysical claim is falsified by the facts.

  7. Fundamental awareness: A framework for integrating science, philosophy and metaphysics.

    PubMed

    Theise, Neil D; Kafatos, Menas C

    2016-01-01

    The ontologic framework of Fundamental Awareness proposed here assumes that non-dual Awareness is foundational to the universe, not arising from the interactions or structures of higher level phenomena. The framework allows comparison and integration of views from the three investigative domains concerned with understanding the nature of consciousness: science, philosophy, and metaphysics. In this framework, Awareness is the underlying reality, not reducible to anything else. Awareness and existence are the same. As such, the universe is non-material, self-organizing throughout, a holarchy of complementary, process driven, recursive interactions. The universe is both its own first observer and subject. Considering the world to be non-material and comprised, a priori, of Awareness is to privilege information over materiality, action over agency and to understand that qualia are not a "hard problem," but the foundational elements of all existence. These views fully reflect main stream Western philosophical traditions, insights from culturally diverse contemplative and mystical traditions, and are in keeping with current scientific thinking, expressible mathematically.

  8. Four queries concerning the metaphysics of early human embryogenesis.

    PubMed

    Howsepian, A A

    2008-04-01

    In this essay, I attempt to provide answers to the following four queries concerning the metaphysics of early human embryogenesis. (1) Following its first cellular fission, is it coherent to claim that one and only one of two "blastomeric" twins of a human zygote is identical with that zygote? (2) Following the fusion of two human pre-embryos, is it coherent to claim that one and only one pre-fusion pre-embryo is identical with that postfusion pre-embryo? (3) Does a live human being come into existence only when its brain comes into existence? (4) At implantation, does a pre-embryo become a mere part of its mother? I argue that either if things have quidditative properties or if criterialism is false, then queries (1) and (2) can be answered in the affirmative; that in light of recent developments in theories of human death and in light of a more "functional" theory of brains, query (3) can be answered in the negative; and that plausible mereological principles require a negative answer to query (4).

  9. Method and metaphysics in Clements's and Gleason's ecological explanations.

    PubMed

    Eliot, Christopher

    2007-03-01

    To generate explanatory theory, ecologists must wrestle with how to represent the extremely many, diverse causes behind phenomena in their domain. Early twentieth-century plant ecologists Frederic E. Clements and Henry A. Gleason provide a textbook example of different approaches to explaining vegetation, with Clements allegedly committed, despite abundant exceptions, to a law of vegetation, and Gleason denying the law in favor of less organized phenomena. However, examining Clements's approach to explanation reveals him not to be expressing a law, and instead to be developing an explanatory structure without laws, capable of progressively integrating causal complexity. Moreover, Clements and Gleason largely agree on the causes of vegetation; but, since causal understanding here underdetermines representation, they differ on how to integrate recognized causes into general theory--that is, in their methodologies. Observers of the case may have mistakenly assumed that scientific representation across the disciplines typically aims at laws like Newton's, and that representations always reveal scientists' metaphysical commitments. Ironically, in the present case, this assumption seems to have been made even by observers who regard Clements as nai ve for his alleged commitment to an ecological law.

  10. Fundamental awareness: A framework for integrating science, philosophy and metaphysics

    PubMed Central

    Theise, Neil D.; Kafatos, Menas C.

    2016-01-01

    ABSTRACT The ontologic framework of Fundamental Awareness proposed here assumes that non-dual Awareness is foundational to the universe, not arising from the interactions or structures of higher level phenomena. The framework allows comparison and integration of views from the three investigative domains concerned with understanding the nature of consciousness: science, philosophy, and metaphysics. In this framework, Awareness is the underlying reality, not reducible to anything else. Awareness and existence are the same. As such, the universe is non-material, self-organizing throughout, a holarchy of complementary, process driven, recursive interactions. The universe is both its own first observer and subject. Considering the world to be non-material and comprised, a priori, of Awareness is to privilege information over materiality, action over agency and to understand that qualia are not a “hard problem,” but the foundational elements of all existence. These views fully reflect main stream Western philosophical traditions, insights from culturally diverse contemplative and mystical traditions, and are in keeping with current scientific thinking, expressible mathematically. PMID:27489576

  11. Beyond positivism: a metaphysical basis for clinical practice?

    PubMed

    Herman, J

    1992-09-01

    Medicine does not have its own unified body of scientific knowledge. Instead, physicians who are oriented to research make sporadic incursions into the basic sciences such as genetics, biochemistry, immunology, epidemiology, physiology, pharmacology and so on. These latter, taken together, comprise biomedicine which is said to have adopted the positivist epistemology or the Cartesian/Newtonian one that regards the scientist as an uninvolved observer of nature. In effect, medical science has come to rest on a theory of knowledge which links meaning to probability and considers prediction as the scientist's chief task. Like its predecessor, the probability theory of meaning rejects metaphysical speculation and remains connected to observations made, directly or indirectly, by means of the five senses. Despite some brilliant successes touching on relatively uncommon disorders, biomedicine cannot explain most day-to-day clinical activity. An understanding of what transpires between patient and doctor, of its diagnostic potential and therapeutic weight requires hermeneutic, or phenomenological, inquiry which brings about changes in both parties to it. Such a science, as ontological speculation has been called, cannot be deciphered by an epistemology couched in the imagery of physics and chemistry.

  12. Overcoming O: Dewey and the Problem of Bion's Metaphysics.

    PubMed

    Soffer-Dudek, Nir

    2015-10-01

    Bion guides us to eschew memory, desire, and understanding in order to become one with O-the ultimate reality of the analytic moment. However, his directions are valid only to the extent that such a meta-reality actually exists. Otherwise there is nothing to unite with and no reason to shun memory or desire. The present work inquires whether we may provide Bion's technique with a less speculative philosophy, specifically Dewey's pragmatist theory of aesthetics. It begins with reviewing the similarities between the two writers' methods, highlighting their shared emphasis on openness to the unknown. Yet listening to their intonations reveals that they actually convey opposite ideas as to what this "unknown" may be. Whereas Dewey sanguinely portrays the possibilities of the "yet-unknown," Bion emphasizes the dread of our inescapable encounter with the unknowable. This dread is embodied in his concept of O. Thus, rather than being merely a metaphysical speculation, O communicates Bion's conviction that fear forms the core of our existence. Banishing O from the counseling room may indeed aid his method in becoming accessible to a wider audience; at the same time, however, doing so might also deprive it of the very context that gives it meaning. © 2015 by the American Psychoanalytic Association.

  13. Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1

    PubMed Central

    Jacobsen, Jessie C.; Glamuzina, Emma; Taylor, Juliet; Swan, Brendan; Handisides, Shona; Wilson, Callum; Fietz, Michael; van Dijk, Tessa; Appelhof, Bart; Hill, Rosamund; Marks, Rosemary; Love, Donald R.; Robertson, Stephen P.; Snell, Russell G.

    2015-01-01

    We describe two brothers who presented at birth with bone growth abnormalities, followed by development of increasingly severe intellectual and physical disability, growth restriction, epilepsy, and cerebellar and brain stem atrophy, but normal ocular phenotypes. Case 1 died at 19 years of age due to chronic respiratory illnesses without a unifying diagnosis. The brother remains alive but severely disabled at 19 years of age. Whole exome sequencing identified compound heterozygous stop mutations in the peroxisome biogenesis factor 7 gene in both individuals. Mutations in this gene cause rhizomelic chondrodysplasia punctata, type 1 (RCDP1). One mutation, p.Arg232∗, has only been documented once before in a Japanese family, which is of interest given these two boys are of European descent. The other mutation, p.Leu292∗, is found in approximately 50% of RCDP1 patients. These are the first cases of RCDP1 that describe the coinheritance of the p.Arg232∗ and p.Leu292∗ mutations and demonstrate the utility of WES in cases with unclear diagnoses. PMID:26587300

  14. Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3.

    PubMed

    Itzkovitz, Brandon; Jiralerspong, Sarn; Nimmo, Graeme; Loscalzo, Melissa; Horovitz, Dafne D G; Snowden, Ann; Moser, Ann; Steinberg, Steve; Braverman, Nancy

    2012-01-01

    Rhizomelic chondrodysplasia punctata (RCDP) is a disorder of peroxisome metabolism resulting from a deficiency of plasmalogens, a specialized class of membrane phospholipids. Classically, patients have a skeletal dysplasia and profound mental retardation, although milder phenotypes are increasingly being identified. It is commonly caused by defects in the peroxisome transporter, PEX7 (RCDP1), and less frequently due to defects in the peroxisomal enzymes required to initiate plasmalogen synthesis, GNPAT (RCDP2) and AGPS (RCDP3). PEX7 transports AGPS into the peroxisome, where AGPS and GNPAT partner on the luminal membrane surface. The presence of AGPS is thought to be required for GNPAT activity. We present six additional probands with RCDP2 and RCDP3, and the novel mutations identified in them. Using cell lines from these and previously reported patients, we compared the amounts of both AGPS and GNPAT proteins present for the first time. We used protein modeling to predict the structural consequences of AGPS mutations and transcript analysis to predict consequences of GNPAT mutations, and show that milder RCDP phenotypes are likely to be associated with residual protein function. In addition, we propose that full GNPAT activity depends not only on the presence of AGPS, but also on the integrity of substrate channeling from GNPAT to AGPS. © 2011 Wiley Periodicals, Inc.

  15. Matrilin-3 mutations that cause chondrodysplasias interfere with protein trafficking while a mutation associated with hand osteoarthritis does not

    PubMed Central

    Otten, C; Wagener, R; Paulsson, M; Zaucke, F

    2005-01-01

    Several mutations in the extracellular matrix protein matrilin-3 cause a heterogeneous disease spectrum affecting skeletal tissues. We introduced three disease causing point mutations leading to single amino acid exchanges (R116W, T298M, C299S) in matrilin-3 and expressed the corresponding proteins in primary articular chondrocytes to elucidate pathogenic mechanisms at the cellular level. Expression levels, processing, and the secretion pattern of a mutation linked to hand osteoarthritis (T298M) were similar to the wildtype protein, whereas the two other mutants were poorly expressed and hardly detectable in supernatants of transiently transfected cells. Using immunofluorescence staining, we demonstrated that mutants R116W and C299S are retained and accumulate within the endoplasmatic reticulum (ER). Their further trafficking to the Golgi compartment seems to be disturbed, whereas T298M is secreted normally. In cells transfected with the wildtype and T298M constructs, a matrilin-3 containing filamentous network was formed surrounding the cells, whereas in the case of R116W and C299S such structures were completely absent. These observations are similar to those for mutations in the cartilage oligomeric matrix protein (COMP) leading to multiple epiphyseal dysplasia and pseudoachondroplasia suggesting that retention and accumulation of cartilage proteins in the ER might be a general mechanism involved in the pathogenesis of chondrodysplasias. PMID:16199550

  16. Dmp1-deficient Mice Display Severe Defects in Cartilage Formation Responsible for a Chondrodysplasia-like Phenotype*

    PubMed Central

    Ye, Ling; Mishina, Yuji; Chen, Di; Huang, Haiyang; Dallas, Sarah L.; Dallas, Mark R.; Sivakumar, Pitchumani; Kunieda, Tetsuo; Tsutsui, Takeo W.; Boskey, Adele; Bonewald, Lynda F.; Feng, Jian Q.

    2009-01-01

    Understanding the molecular mechanisms by which cartilage formation is regulated is essential toward understanding the physiology of both embryonic bone development and postnatal bone growth. Although much is known about growth factor signaling in cartilage formation, the regulatory role of noncollagenous matrix proteins in this process are still largely unknown. In the present studies, we present evidence for a critical role of DMP1 (dentin matrix protein 1) in postnatal chondrogenesis. The Dmp1 gene was originally identified from a rat incisor cDNA library and has been shown to play an important role in late stage dentinogenesis. Whereas no apparent abnormalities were observed in prenatal bone development, Dmp1-deficient (Dmp1−/−) mice unexpectedly develop a severe defect in cartilage formation during postnatal chondrogenesis. Vertebrae and long bones in Dmp1-deficient (Dmp1−/−) mice are shorter and wider with delayed and malformed secondary ossification centers and an irregular and highly expanded growth plate, results of both a highly expanded proliferation and a highly expanded hypertrophic zone creating a phenotype resembling dwarfism with chondrodysplasia. This phenotype appears to be due to increased cell proliferation in the proliferating zone and reduced apoptosis in the hypertrophic zone. In addition, blood vessel invasion is impaired in the epiphyses of Dmp1−/− mice. These findings show that DMP1 is essential for normal postnatal chondrogenesis and subsequent osteogenesis. PMID:15590631

  17. Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata.

    PubMed Central

    Daniele, A; Parenti, G; d'Addio, M; Andria, G; Ballabio, A; Meroni, G

    1998-01-01

    X-linked chondrodysplasia punctata (CDPX) is a congenital disorder characterized by abnormalities in cartilage and bone development. Mutations leading to amino acid substitutions were identified recently in CDPX patients, in the coding region of the arylsulfatase E (ARSE) gene, a novel member of the sulfatase gene family. Transfection of the ARSE full-length cDNA, in Cos7 cells, allowed us to establish that its protein product is a 60-kD precursor, which is subject to N-glycosylation, to give a mature 68-kD form that, unique among sulfatases, is localized to the Golgi apparatus. Five missense mutations found in CDPX patients were introduced into wild-type ARSE cDNA by site-directed mutagenesis. These mutants were transfected into Cos7 cells, and the arylsulfatase activity and biochemical properties were determined, to study the effect of these substitutions on the ARSE protein. One of the mutants behaves as the wild-type protein. All four of the other mutations resulted in a complete lack of arylsulfatase activity, although the substitutions do not appear to affect the stability and subcellular localization of the protein. The loss of activity due to these mutations confirms their involvement in the clinical phenotype and points to the importance of these residues in the correct folding of a catalytically active ARSE enzyme. PMID:9497243

  18. Structural and Functional Mutations of the Perlecan Gene Cause Schwartz-Jampel Syndrome, with Myotonic Myopathy and Chondrodysplasia

    PubMed Central

    Arikawa-Hirasawa, Eri; Le, Alexander H.; Nishino, Ichizo; Nonaka, Ikuya; Ho, Nicola C.; Francomano, Clair A.; Govindraj, Prasanthi; Hassell, John R.; Devaney, Joseph M.; Spranger, Jürgen; Stevenson, Roger E.; Iannaccone, Susan; Dalakas, Marinos C.; Yamada, Yoshihiko

    2002-01-01

    Perlecan, a large heparan sulfate proteoglycan, is a component of the basement membrane and other extracellular matrices and has been implicated in multiple biological functions. Mutations in the perlecan gene (HSPG2) cause two classes of skeletal disorders: the relatively mild Schwartz-Jampel syndrome (SJS) and severe neonatal lethal dyssegmental dysplasia, Silverman-Handmaker type (DDSH). SJS is an autosomal recessive skeletal dysplasia characterized by varying degrees of myotonia and chondrodysplasia, and patients with SJS survive. The molecular mechanism underlying the chondrodystrophic myotonia phenotype of SJS is unknown. In the present report, we identify five different mutations that resulted in various forms of perlecan in three unrelated patients with SJS. Heterozygous mutations in two patients with SJS either produced truncated perlecan that lacked domain V or significantly reduced levels of wild-type perlecan. The third patient had a homozygous 7-kb deletion that resulted in reduced amounts of nearly full-length perlecan. Unlike DDSH, the SJS mutations result in different forms of perlecan in reduced levels that are secreted to the extracellular matrix and are likely partially functional. These findings suggest that perlecan has an important role in neuromuscular function and cartilage formation, and they define the molecular basis involved in the difference in the phenotypic severity between DDSH and SJS. PMID:11941538

  19. The serum protein α2–Heremans-Schmid glycoprotein/fetuin-A is a systemically acting inhibitor of ectopic calcification

    PubMed Central

    Schäfer, Cora; Heiss, Alexander; Schwarz, Anke; Westenfeld, Ralf; Ketteler, Markus; Floege, Jürgen; Müller-Esterl, Werner; Schinke, Thorsten; Jahnen-Dechent, Willi

    2003-01-01

    Ectopic calcification is a frequent complication of many degenerative diseases. Here we identify the serum protein α2–Heremans-Schmid glycoprotein (Ahsg, also known as fetuin-A) as an important inhibitor of ectopic calcification acting on the systemic level. Ahsg-deficient mice are phenotypically normal, but develop severe calcification of various organs on a mineral and vitamin D–rich diet and on a normal diet when the deficiency is combined with a DBA/2 genetic background. This phenotype is not associated with apparent changes in calcium and phosphate homeostasis, but with a decreased inhibitory activity of the Ahsg-deficient extracellular fluid on mineral formation. The same underlying principle may contribute to many calcifying disorders including calciphylaxis, a syndrome of severe systemic calcification in patients with chronic renal failure. Taken together, our data demonstrate a critical role of Ahsg as an inhibitor of unwanted mineralization and provide a novel therapeutic concept to prevent ectopic calcification accompanying various diseases. PMID:12897203

  20. Mind, medicine, and metaphysics: reflections on the reclamation of the human spirit.

    PubMed

    Penn, Michael L; Wilson, Lindsay

    2003-01-01

    Following the publication of such works as Auguste Comte's Cour de Philosophie Positive (1830-1842), in which he argued the inherent immaturity of metaphysical discourse, metaphysics, for Western intellectuals--and especially for Western intellectuals committed to science--has largely been abandoned. In recent years, however, we have seen renewed interest in metaphysics among some researchers and clinicians, due, in part, to increasing attempts to integrate diverse fields of study into some unified and coherent understanding of human life. For many psychologists and psychiatrists, this renewed interest is accompanied by an implicit, and sometimes explicit, re-embrace of the notion of the "human spirit." In this paper we explore some of the processes animating this movement and some of the clinical implications that flow from it.

  1. Pyle metaphyseal dysplasia in an African child: Case report and review of the literature.

    PubMed

    Wonkam, A; Makubalo, N; Roberts, T; Chetty, M

    2016-05-25

    Pyle disease (OMIM 265900), also known as metaphyseal dysplasia, is a rare autosomal recessive disorder with no known gene mutation. We report a case of Pyle disease in a 7-year-old African boy of mixed ancestry who presented with finger and wrist fractures following minor trauma. The radiological findings revealed abnormally broad metaphyses of the tubular bones, known as Erlenmeyer-flask bone deformity, and mild cranial sclerosis, both hallmarks of the condition. We report the first case in a patient with African ancestry, which could help in the gene discovery of this rare autosomal recessive skeletal dysplasia with unknown mutations.

  2. Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement

    PubMed Central

    Thiele, Holger; Sakano, Masahiro; Kitagawa, Hiroshi; Sugahara, Kazuyuki; Rajab, Anna; Höhne, Wolfgang; Ritter, Heide; Leschik, Gundula; Nürnberg, Peter; Mundlos, Stefan

    2004-01-01

    We studied two large consanguineous families from Oman with a distinct form of spondyloepiphyseal dysplasia (SED Omani type). By using a genome-wide linkage approach, we were able to map the underlying gene to a 4.5-centimorgan interval on chromosome 10q23. We sequenced candidate genes from the region and identified a missense mutation in the chondroitin 6-O-sulfotransferase (C6ST-1) gene (CHST3) changing an arginine into a glutamine (R304Q) in the well conserved 3′-phosphoadenosine 5′-phosphosulfate binding site. C6ST-1 catalyzes the modifying step of chondroitin sulfate (CS) synthesis by transferring sulfate to the C-6 position of the N-acetylgalactosamine of chondroitin. From the crystal structures of other sulfotransferases, it could be inferred that Arg-304 is essential for the structure of the cosubstrate binding site. We used recombinant C6ST-1 to show that the identified missense mutation completely abolishes C6ST-1 activity. Disaccharide composition analysis of CS chains by anion-exchange HPLC shows that both ΔHexA-GalNAc(6S) and ΔHexA(2S)-GalNAc(6S) were significantly reduced in the patient's cells and that ΔHexA-GalNAc(4S,6S), undetectable in controls, was elevated. Analysis of the patient's urine shows marked undersulfation of CS, in particular reduction in 6-O-sulfated disaccharide and an increase in the nonsulfated unit. Our results indicate that the mutation in CHST3 described here causes a specific but generalized defect of CS chain sulfation resulting in chondrodysplasia with major involvement of the spine. PMID:15215498

  3. Type II collagen defect in two sibs with the Goldblatt syndrome, a chondrodysplasia with dentinogenesis imperfecta, and joint laxity.

    PubMed

    Bonaventure, J; Stanescu, R; Stanescu, V; Allain, J C; Muriel, M P; Ginisty, D; Maroteaux, P

    1992-12-01

    We report on a syndrome of spondylo-epimetaphyseal dysplasia, dentinogenesis imperfecta, and ligamentous hyperextensibility in two sibs born to nonconsanguineous parents. This chondrodysplasia was characterized by severe shortness of stature and an osteoporosis without fractures. Electron microscopic examination of the cartilage documented large vacuoles of dilated rough endoplasmic reticulum within the cytoplasm of chondrocytes. Gel electrophoresis of pepsin-soluble collagen extracted from cartilage demonstrated the presence of type II collagen chains with an abnormal mobility. Prolyl and lysyl hydroxylations were slightly increased. The abnormal molecules melted at a higher temperature than the normal ones. CNBr peptide mapping of type II collagen showed an altered electrophoretic migration of peptides CB 11, CB 8, and CB 10,5 whereas CB 9,7 looked normal. In addition, two small non-collagenous proteins isolated from cartilage were not found in an age-matched control individual but were detected in a normal newborn infant. The quantitation of proline-labelled collagen synthesized by dermal fibroblasts demonstrated a 50% reduction of total collagen. This decrease essentially affected the amount of extracellular type I collagen, which was secreted less efficiently than in control cells. Nevertheless, type I collagen chains behaved normally on 5% polyacrylamide gels. The reduced mRNA levels of alpha 1I and alpha 2I chains might reflect either a transcriptional defect or a decreased stability of mRNA transcripts. We suggest that the association of both pathological chondrocytes producing altered collagen type II and decreased synthesis of type I could be responsible for this peculiar phenotype. The overmodification of alpha 1II CNBr peptides is consistent with the presence of a single-base substitution in the COL2A1 gene. Whether there is a direct causal relationship between the type II collagen defect and the underexpression of type I collagen will require

  4. Neutral Sphingomyelinase (SMPD3) Deficiency Causes a Novel Form of Chondrodysplasia and Dwarfism That Is Rescued by Col2A1-Driven smpd3 Transgene Expression

    PubMed Central

    Stoffel, Wilhelm; Jenke, Britta; Holz, Barbara; Binczek, Erika; Günter, Robert Heinz; Knifka, Jutta; Koebke, Jürgen; Niehoff, Anja

    2007-01-01

    Neutral sphingomyelinase SMPD3 (nSMase2), a sphingomyelin phosphodiesterase, resides in the Golgi apparatus and is ubiquitously expressed. Gene ablation of smpd3 causes a generalized prolongation of the cell cycle that leads to late embryonic and juvenile hypoplasia because of the SMPD3 deficiency in hypothalamic neurosecretory neurons. We show here that this novel form of combined pituitary hormone deficiency is characterized by the perturbation of the hypothalamus-pituitary growth axis, associated with retarded chondrocyte development and enchondral ossification in the epiphyseal growth plate. To study the contribution by combined pituitary hormone deficiency and by the local SMPD3 deficiency in the epiphyseal growth plate to the skeletal phenotype, we introduced the full-length smpd3 cDNA transgene under the control of the chondrocyte-specific promoter Col2a1. A complete rescue of the smpd3−/− mouse from severe short-limbed skeletal dysplasia was achieved. The smpd3−/− mouse shares its dwarf and chondrodysplasia phenotype with the most common form of human achondrodysplasia, linked to the fibroblast-growth-factor receptor 3 locus, not linked to deficits in the hypothalamic-pituitary epiphyseal growth plate axis. The rescue of smpd3 in vivo has implications for future research into dwarfism and, particularly, growth and development of the skeletal system and for current screening and future treatment of combined dwarfism and chondrodysplasia. PMID:17591962

  5. The Problem of Absolute Knowledge. Metaphysics as Intellectual Intuition in Classic Modern European Philosophy

    ERIC Educational Resources Information Center

    Torubarova, Tatyana V.

    2016-01-01

    Classic modern European philosophy explicate, reflect; leaving own history in fundamental metaphysical position, where the existence is understood as conscience. This position is representative in the process of historic development, transition of philosophical thought from R. Dekart to G. Hegel. It appears exactly the field of key metaphysical…

  6. Let's keep metaphysics out of medical ethics: a critique of Poplawski and Gillett.

    PubMed Central

    Leavitt, F J

    1992-01-01

    I argue that the concept of 'longitudinal form', which Poplawski and Gillett have introduced into ethical discussions about embryos and gametes, involves too many metaphysical subtleties to be a useful aid to making moral decisions. I conclude by suggesting a criterion for relevance in medical ethics. PMID:1460650

  7. The Age of Milton--Paradise, Metaphysics, and Chivalric Codes: 5114.303.

    ERIC Educational Resources Information Center

    Hargraves, Richard

    Developed for a high school unit on the age of Milton, this guide is designed to examine the dominant literary modes of thought expressed in Spenser's "The Faerie Queene," Milton's "Comus,""Paradise Lost," and "Paradise Regained," and John Donne's metaphysical poetry. Performance objectives are listed along…

  8. The Specter of Metaphysics in Counseling Research and Practice: The Qualitative Challenge.

    ERIC Educational Resources Information Center

    Hanna, Fred J.; Shank, Gary

    1995-01-01

    Asserts that qualitative research will gain acceptance when it takes a significant step toward solving a major problem in the discipline. Provides a tentative outline of an approach to metaphysical problems involving radical empiricism and phenomenolgy. Delineates some necessary cognitive shifts involving dialectical and abductive reasoning…

  9. Different effects of indomethacin on healing of shaft and metaphyseal fractures

    PubMed Central

    Sandberg, Olof; Aspenberg, Per

    2015-01-01

    Background and purpose NSAIDs are commonly used in the clinic, and there is a general perception that this does not influence healing in common types of human fractures. Still, NSAIDs impair fracture healing dramatically in animal models. These models mainly pertain to fractures of cortical bone in shafts, whereas patients more often have corticocancellous fractures in metaphyses. We therefore tested the hypothesis that the effect of an NSAID is different in shaft healing and metaphyseal healing. Methods 26 mice were given an osteotomy of their left femur with an intramedullary nail. 13 received injections of indomethacin, 1 mg/kg twice daily. After 17 days of healing, the femurs were analyzed with 3-point bending and microCT. 24 other mice had holes drilled in both proximal tibias, to mimic a stable metaphyseal injury. A screw was inserted in the right tibial hole only. After 7 days of indomethacin injections or control injections, screw fixation was measured with mechanical pull-out testing and the side without a screw was analyzed with microCT. Results In the shaft model, indomethacin led to a 35% decrease in force at failure (95% CI: 14–54). Callus size was reduced to a similar degree, as seen by microCT. Metaphyseal healing was less affected by indomethacin, as no effect on pull-out force could be seen (95% CI: –27 to 17) and there was only a small drop in new bone volume inside the drill hole. The difference in the relative effect of indomethacin between the 2 models was statistically significant (p = 0.006). Interpretation Indomethacin had a minimal effect on stable metaphyseal fractures, but greatly impaired healing of unstable shaft fractures. This could explain some of the differences found between animal models and clinical experience. PMID:25323801

  10. A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.

    PubMed

    Barøy, Tuva; Koster, Janet; Strømme, Petter; Ebberink, Merel S; Misceo, Doriana; Ferdinandusse, Sacha; Holmgren, Asbjørn; Hughes, Timothy; Merckoll, Else; Westvik, Jostein; Woldseth, Berit; Walter, John; Wood, Nick; Tvedt, Bjørn; Stadskleiv, Kristine; Wanders, Ronald J A; Waterham, Hans R; Frengen, Eirik

    2015-10-15

    Import of peroxisomal matrix proteins, crucial for peroxisome biogenesis, is mediated by the cytosolic receptors PEX5 and PEX7 that recognize proteins carrying peroxisomal targeting signals 1 or 2 (PTS1 or PTS2), respectively. Mutations in PEX5 or 12 other PEX genes cause peroxisome biogenesis disorders, collectively named the Zellweger spectrum disorders (ZSDs), whereas mutations in PEX7 cause rhizomelic chondrodysplasia punctata type 1 (RCDP1). Three additional RCDP types, RCDP2-3-4, are caused, respectively, by mutations in GNPAT, AGPS and FAR1, encoding enzymes involved in plasmalogen biosynthesis. Here we report a fifth type of RCDP (RCDP5) caused by a novel mutation in PEX5. In four patients with RCDP from two independent families, we identified a homozygous frame shift mutation c.722dupA (p.Val242Glyfs(∗)33) in PEX5 (GenBank: NM_001131023.1). PEX5 encodes two isoforms, PEX5L and PEX5S, and we show that the c.722dupA mutation, located in the PEX5L-specific exon 9, results in loss of PEX5L only. Both PEX5 isoforms recognize PTS1-tagged proteins, but PEX5L is also a co-receptor for PTS2-tagged proteins. Previous patients with PEX5 mutations had ZSD, mainly due to deficient import of PTS1-tagged proteins. Similarly to mutations in PEX7, loss of PEX5L results in deficient import of PTS2-tagged proteins only, thus causing RCDP instead of ZSD. We demonstrate that PEX5L expression restores the import of PTS2-tagged proteins in patient fibroblasts. Due to the biochemical overlap between RCDP1 and RCDP5, sequencing of PEX7 and exon 9 in PEX5 should be performed in patients with a selective defect in the import of PTS2-tagged proteins. © The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  11. Abortion, metaphysics and morality: a review of Francis Beckwith's defending life: a moral and legal case against abortion choice.

    PubMed

    Nobis, Nathan

    2011-06-01

    In Defending Life: A Moral and Legal Case Against Abortion Choice (2007) and an earlier article in this journal, "Defending Abortion Philosophically"(2006), Francis Beckwith argues that fetuses are, from conception, prima facie wrong to kill. His arguments are based on what he calls a "metaphysics of the human person" known as "The Substance View." I argue that Beckwith's metaphysics does not support his abortion ethic: Moral, not metaphysical, claims that are part of this Substance View are the foundation of the argument, and Beckwith inadequately defends these moral claims. Thus, Beckwith's arguments do not provide strong support for what he calls the "pro-life" view of abortion.

  12. Alpha-2 Heremans Schmid Glycoprotein (AHSG) Modulates Signaling Pathways in Head and Neck Squamous Cell Carcinoma Cell Line SQ20B

    SciTech Connect

    Thompson, Pamela D.; Sakwe, Amos; Koumangoye, Rainelli; Yarbrough, Wendell G.; Ochieng, Josiah; Marshall, Dana R.

    2014-02-15

    This study was performed to identify the potential role of Alpha-2 Heremans Schmid Glycoprotein (AHSG) in Head and Neck Squamous Cell Carcinoma (HNSCC) tumorigenesis using an HNSCC cell line model. HNSCC cell lines are unique among cancer cell lines, in that they produce endogenous AHSG and do not rely, solely, on AHSG derived from serum. To produce our model, we performed a stable transfection to down-regulate AHSG in the HNSCC cell line SQ20B, resulting in three SQ20B sublines, AH50 with 50% AHSG production, AH20 with 20% AHSG production and EV which is the empty vector control expressing wild-type levels of AHSG. Utilizing these sublines, we examined the effect of AHSG depletion on cellular adhesion, proliferation, migration and invasion in a serum-free environment. We demonstrated that sublines EV and AH50 adhered to plastic and laminin significantly faster than the AH20 cell line, supporting the previously reported role of exogenous AHSG in cell adhesion. As for proliferative potential, EV had the greatest amount of proliferation with AH50 proliferation significantly diminished. AH20 cells did not proliferate at all. Depletion of AHSG also diminished cellular migration and invasion. TGF-β was examined to determine whether levels of the TGF-β binding AHSG influenced the effect of TGF-β on cell signaling and proliferation. Whereas higher levels of AHSG blunted TGF-β influenced SMAD and ERK signaling, it did not clearly affect proliferation, suggesting that AHSG influences on adhesion, proliferation, invasion and migration are primarily due to its role in adhesion and cell spreading. The previously reported role of AHSG in potentiating metastasis via protecting MMP-9 from autolysis was also supported in this cell line based model system of endogenous AHSG production in HNSCC. Together, these data show that endogenously produced AHSG in an HNSCC cell line, promotes in vitro cellular properties identified as having a role in tumorigenesis. Highlights: • Head

  13. Effect of Intrathecal Baclofen on Delayed-Onset Paroxysmal Dystonia due to Compression Injury Resulting From Congenital and Progressive Spinal Bone Deformities in Chondrodysplasia Punctata.

    PubMed

    Okazaki, Tetsuya; Saito, Yoshiaki; Ueda, Riyo; Sugihara, Susumu; Tamasaki, Akiko; Nishimura, Yoko; Ohno, Koyo; Togawa, Masami; Ohno, Takako; Horie, Akiyoshi; Honda, Masashi; Takenaka, Atsushi; Nagashima, Hideki; Maegaki, Yoshihiro

    2016-03-01

    Dystonia due to spinal lesions in adult patients is characterized by the provocation and/or amelioration of the spasm by somatosensory stimulation with a sensory trick. An infant with brachytelephalangic chondrodysplasia punctata developed flaccid tetraplegia due to cervical cord compression resulting from congenital atlantoaxial dislocation. Episodic, tonic extension of the extremities, neck, and trunk had appeared daily since age two years and was often provoked by tactile stimulation. Although decompression surgery was performed at age three years, progressive spinal deformity resulted in the aggravation of episodic dystonia thereafter, lasting for hours. Foot dorsiflexion and wearing a truncal brace for scoliosis inhibited these spasms. Intrathecal baclofen bolus injection transiently ameliorated the paroxysmal dystonia and detrusor-sphincter dyssynergia in the lower urinary tract. Paroxysmal dystonia is unusual in children with spinal cord lesions; however, it should be recognized for appropriate individualized clinical management. Copyright © 2016 Elsevier Inc. All rights reserved.

  14. Reality, locality and all that: "experimental metaphysics" and the quantum foundations

    NASA Astrophysics Data System (ADS)

    Cavalcanti, Eric G.

    2008-10-01

    In recent decades there has been a resurge of interest in the foundations of quantum theory, partly motivated by new experimental techniques, partly by the emerging field of quantum information science. Old questions, asked since the seminal article by Einstein, Podolsky and Rosen (EPR), are being revisited. The work of John Bell has changed the direction of investigation by recognising that those fundamental philosophical questions can have, after all, input from experiment. Abner Shimony has aptly termed this new field of enquiry "experimental metaphysics". The objective of this Thesis is to contribute to that body of research, by formalising old concepts, proposing new ones, and finding new results in well-studied areas. Without losing from sight that the appeal of experimental metaphysics comes from the adjective, every major result is followed by clear experimental proposals for quantum-atom optical setups.

  15. Metaphyseal Sleeves for Revision Total Knee Arthroplasty: Good Short-Term Outcomes.

    PubMed

    Bugler, Kate E; Maheshwari, Rohit; Ahmed, Isaaq; Brenkel, Ivan J; Walmsley, Philip J

    2015-11-01

    Metaphyseal sleeve prostheses have shown promising results in the management of bone defects at revision TKA. We present a study of their use in aseptic revision TKA. Thirty-five revisions were included in 34 patients with wear or aseptic loosening indicated in 71% of cases. The majority of cases (63%) were AORI grade 2 or greater on the tibia or femur. Knee Society scores were excellent or good in 83% of patients with the same percentage having no or only mild pain. One patient suffered a sleeve-related complication with femoral condylar fractures three years postoperatively; these united with good outcomes. All radiographs were satisfactory; no patient required a further revision. We report good outcomes with the use of metaphyseal sleeves in revision TKA.

  16. Dwarfism in Alaskan malamutes: a disease resembling metaphyseal dysplasia in human beings.

    PubMed Central

    Sande, R. D.; Alexander, J. E.; Spencer, G. R.; Padgett, G. A.; Davis, W. C.

    1982-01-01

    In a study of 300 Alaskan Malamutes, dwarfism was shown to be an autosomal recessive inherited disease with complete penetrance that resulted in disturbed endochondral bone formation. Osseous growth disturbance was manifest at the metaphyses of tubular bones. Clinical and radiographic changes were very similar to those of rickets, although appositional bone formation rates were normal. Serum calcium, phosphorus, and alkaline phosphatase were within normal limits. Urinary excretion of calcium, phosphate, and amino acids were normal. Excess matrix was formed in the zone of cartilage cell proliferation, and the matrix persisted in the growth plate. Normal stresses resulted in microfractures in the metaphyses with subsequent interference of vascular penetration into the zone of degenerated cartilage cells. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 Figure 6 Figure 7 Figure 8 PMID:7065114

  17. The metaphysical club at the Johns Hopkins University (1879-1885).

    PubMed

    Behrens, Peter J

    2005-11-01

    Of the earliest American universities, The Johns Hopkins in Baltimore holds a unique position for psychology. At Hopkins, many of America's first psychologists received their graduate training. Of special interest is the Hopkins Metaphysical Club, organized in 1879 by Charles Sanders Peirce. It provided a forum for research and scholarship by faculty and students. Papers related to topics of the "new" psychology began to appear in 1883, about the time G. Stanley Hall was given a 3-year appointment at Hopkins. When Peirce departed Hopkins in 1885, Hall was free to develop psychology in his image and disbanded the club. Nevertheless, the Metaphysical Club played an important role in the emergence of American scientific psychology.

  18. [Filling of metaphyseal defects with nanocrystalline hydroxyapatite (Ostim) for fractures of the radius].

    PubMed

    Huber, F-X; Hillmeier, J; Kock, H-J; McArthur, N; Huber, C; Diwo, M; Baier, M; Meeder, P J

    2008-12-01

    In this study, innovative bone replacement material was tested after complicated metaphyseal radius fractures with the affected joints. In all, 11 C 2, 11 C 3 and 3 A 3 radius fractures were treated by surgery combining an angularly stable palmar plate osteosynthesis with defect filling using nanocrystalline hydroxyapatite. Examinations were conducted preoperatively and postoperatively after 4 weeks, 12 weeks and 9-12 months. After 10.5+/-1.4 months, inclination angles of 8.7+/-1.8 degrees (dorsopalmar) and 18.8+/-2.9 degrees (radioulnar) were measured at the treated fractures, the ulnar drift was 0.6+/-1.8 mm. According to the Gartland/Werley scale, 10 therapeutic results were considered "excellent", 12 "good" and 3 "fair". An angularly stable plate osteosynthesis with metaphyseal defect filling using nanocrystalline hydroxyapatite for the treatment of A 3, C 2 and C 3 radius fractures showed satisfactory radiological and clinical results.

  19. "Pros and cons" of total hip arthroplasty with metaphyseal Proxima endoprosthesis.

    PubMed

    Wraźen, Waldemar; Golec, Edward B; Tomaszewski, Krzysztof A; Golec, Piotr; Jaworowski, Michał de Lubicz; Dudkiewicz, Zbigniew

    2015-01-01

    The authors present their own experience concerning total hip arthroplasty with the metaphyseal prosthesis Proxima. Proxima, a metaphyseal prosthesis, provides an innovative supplement to total hip arthroplasty. In this study, the authors present their own experience using Proxima in patients with hip osteoarthritis. This study was performed between 2008 to 2013 and comprised of 62 patients, of which 38 were male (61.3%) and 24 female (38.7%). All patients were operated on due to hip osteoarthritis using total hip arthroplasty with the metaphyseal prosthesis Proxima. The age of patients included into the study ranged from 23 years to 62 years with the mean age of 46 years. The authors paid close attention to the "pros and cons" of surgical techniques and assessed clinical and radiological results in both the short and long-term observation periods. The clinical evaluation was based on the Harris Hip Score and radiological assessment of fixation of the acetabular cup of the endoprosthesis was based on Pradhan's criteria. The endoprosthesis Proxima stem was positioned using the manufacturer's recommended method, evaluating the direction, scope and duration of the displacement in the marrow cavity of the proximal stump of the femur. According to the authors' analysis, the surgery gives good functional and radiological results both in the short- and long-term observation periods. The effectiveness depends on precise qualification for surgery, proper surgical techniques and specific anatomical conditions of the proximal femur stump. The most common reasons for primary and secondary dislocations of the metaphyseal endoprosthesis Proxima stem occur during the first three months post surgery. This is due to incorrect surgical techniques, which disregard the importance of specific anatomical conditions of the proximal femoral stump, which affects Proxima implantation, and cause deviations towards a varus or valgus orientation.

  20. Osseous integration of hydroxyapatite grafts in metaphyseal bone defects of the proximal tibia (CT-study).

    PubMed

    Khodadadyan-Klostermann, C; Liebig, T; Melcher, I; Raschke, M; Haas, N P

    2002-01-01

    The purpose of the study was the examination of the osseous integration of hydroxyapatite grafts used for the filling of metaphyseal bone defects in tibia head fractures. Four patients with lateral tibia plateau fractures AO-type B3 (12) were included in the study. Patients were treated by arthroscopically assisted reduction and percutaneous screw fixation. The metaphyseal bone defects were filled with prepared solid hydroxyapatite graft blocks (Endobon Fa. Merk Darmstadt, Germany). In all of the patients a CT study for the osseous integration of hydroxyapatite grafts used for the filling of metaphyseal bone defects in tibial head fractures was performed. Measurements of density were performed of the implant region, the periimplant region, the distant periimplant region and the fibula bone. Follow-up CT examinations of these specific regions were performed 6 and 12 months postoperative. In all cases an increase of density of the hydroxyapatite graft after 6 months and 12 months follow-up was detected. The periimplant region showed in all cases a decrease of density. A progressive decrease of the periimplant and the distant cancellous tibial bone region was also detectable after 6 and 12 months post-op. A similar decrease of density was visible in the region of the cancellous bone of the fibula. In the interface region a direct bone formation between the hydroxyapatite graft and the adjected cancellous bone was visible in all cases during follow-up. The increase of density of the hydroxyapatite grafts and the direct bone formation in the interface region between the hydroxyapatite graft and the adjacent cancellous bone are clear radiomorphological signs for an osteointegration of hydroxyapatite grafts in the metaphyseal region.

  1. The use of BoneSource hydroxyapatite cement for traumatic metaphyseal bone void filling.

    PubMed

    Dickson, Kyle F; Friedman, Jacob; Buchholz, James G; Flandry, Frederick D

    2002-12-01

    This prospective, randomized study was performed to determine whether a new, in situ setting hydroxyapatite cement is as safe or effective as autologous cancellous bone graft for the treatment of metaphyseal bone voids secondary to trauma. This was a multicenter study including Level I trauma centers and university hospitals. Thirty-eight patients who sustained an acute closed or open type I fracture of the humerus, radius, ulna, femur, tibia, or calcaneus and had a traumatic bone void requiring grafting of the metaphyseal or cancellous bone area were enrolled. Open reduction and internal fixation of the fracture was performed with use of either autologous cancellous bone or BoneSource hydroxyapatite cement to fill traumatic metaphyseal voids. Main outcome measures included maintenance of reduction, fracture healing, pain at defect site, pain at donor site, and clinical function of the limb. Patients treated with BoneSource had an 83% success rate in maintaining reduction, whereas patients treated with autograft had a 67% success rate. A successful clinical outcome, as measured by a healed fracture with minimal to no pain, moderate to maximum function, and no or minor donor site complications, was seen in 69% of patients treated with BoneSource and 57% of patients treated with autograft. In patients with at least 1 year of follow-up, the overall success rate was 79% in the BoneSource group and 70% in the autograft group. BoneSource is safe and effective when used to fill traumatic metaphyseal bone voids. It is at least as good as autograft for treatment of these defects.

  2. Different methods and metaphysics in early molecular genetics--a case of disparity of research?

    PubMed

    Deichmann, Ute

    2008-01-01

    The encounter between two fundamentally different approaches in seminal research in molecular biology--the problems, aims, methods and metaphysics--is delineated and analyzed. They are exemplified by the microbiologist Oswald T. Avery who, in line with the reductionist mechanistic metaphysics of Jacques Loeb, attempted to explain basic life phenomena through chemistry; and the theoretical physicist Max Delbrück who, influenced by Bohr's antimechanistic views, preferred to explain these phenomena without chemistry. Avery's and Delbrück's most important studies took place concurrently. Thus analysis of their contrasting approaches lends itself to examination of the Weltanschauungen view concerning the role of fundamental (metaphysical) assumptions in scientific change, that is, the view that empirical research cannot be neutral in regard to the worldviews of the researchers. This study shows that the initial ostensible disparity (non-integratibility) of the two approaches lasted for just a short time. Ironically it was a student of Delbrück's school, James Watson, who (with Crick) proposed a chemical model, the DNA double helix, as a solution to Delbrück's problem. The structure of DNA has not been seriously challenged over the past half century Moreover, Watson's and Crick's work did not call into question the validity of Delbrück's research, but opened it up to entirely new approaches. The case of Avery and Delbrück demonstrates that after initial obstacles were overcome the different fundamental attitudes and the resulting research practices were capable of integration.

  3. Typology reconfigured: from the metaphysics of essentialism to the epistemology of representation.

    PubMed

    Love, Alan C

    2009-06-01

    The goal of this paper is to encourage a reconfiguration of the discussion about typology in biology away from the metaphysics of essentialism and toward the epistemology of classifying natural phenomena for the purposes of empirical inquiry. First, I briefly review arguments concerning 'typological thinking', essentialism, species, and natural kinds, highlighting their predominantly metaphysical nature. Second, I use a distinction between the aims, strategies, and tactics of science to suggest how a shift from metaphysics to epistemology might be accomplished. Typological thinking can be understood as a scientific tactic that involves representing natural phenomena using idealizations and approximations, which facilitates explanation, investigation, and theorizing via abstraction and generalization. Third, a variety of typologies from different areas of biology are introduced to emphasize the diversity of this representational reasoning. One particular example is used to examine how there can be epistemological conflict between typology and evolutionary analysis. This demonstrates that alternative strategies of typological thinking arise due to the divergent explanatory goals of researchers working in different disciplines with disparate methodologies. I conclude with several research questions that emerge from an epistemological reconfiguration of typology.

  4. The metaphyseal bone defect predicts outcome in reverse shoulder arthroplasty for proximal humerus fracture sequelae.

    PubMed

    Greiner, Stefan; Uschok, Stephan; Herrmann, Sebastian; Gwinner, Clemens; Perka, Carsten; Scheibel, Markus

    2014-06-01

    Reverse shoulder arthroplasty (RSA) represents an established procedure for treatment of fracture sequelae (FS) after proximal humerus fractures. The present work evaluates which factors are of influence for the clinical outcome. Fifty cases (mean age 69, range 44-89) have been evaluated postoperatively clinically [Constant Score (CS)] and radiographically (mean FU 34; range 24-93 months). The type of primary treatment, the amount of a metaphyseal bone defect, the preoperative status of the rotator cuff, the number of previous operative interventions and the type of FS according to Boileau were analysed whether they are of influence for clinical outcome. The mean CS increased significantly from 16.9 ± 6.7 preoperatively to 54.1 ± 15.7 points postoperatively. The CS of primary conservative treatment was significantly higher in comparison to primary operative treatment. Patients with a metaphyseal bone defect of more than 3 cm had significantly lower CS results. Degenerative changes of the teres minor muscle also had a significant negative influence on clinical results. Score results decreased with increasing number of previous operations. There were no significant difference in between patients classified as Boileau type I and II (category 1) compared to types III and IV (category 2). RSA significantly improved the clinical result. A metaphyseal bone defect and preoperative degeneration of the teres minor showed to be negative prognostic factors. Primary operative treatment and the number of previous operations also negatively influenced the clinical result.

  5. Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia.

    PubMed

    Guo, Long; Girisha, Katta M; Iida, Aritoshi; Hebbar, Malavika; Shukla, Anju; Shah, Hitesh; Nishimura, Gen; Matsumoto, Naomichi; Nismath, Shifa; Miyake, Noriko; Ikegawa, Shiro

    2017-03-01

    Osteosclerotic metaphyseal dysplasia (OSMD) is a rare skeletal dysplasia characterized by osteosclerotic metaphyses with osteopenic diaphyses of the long tubular bones. Our previous study identified a homozygous elongation mutation in leucine-rich repeat kinase 1 gene (LRRK1) in a patient with OSMD and showed that Lrrk1 knockout mice exhibited phenotypic similarity with OSMD. Here we report a second LRRK1 mutation in Indian sibs with OSMD. They had homozygous mutation (c.5971_5972insG) that produces an elongated mutant protein (p.A1991Gfs*31) similar to the first case. The sibs had normal stature, normal intelligence and recurrent fractures. The common radiographic feature was asymmetric and variable sclerosis of vertebral end plates, pelvic margin and metaphyses of tubular bones. One of the sibs had facial dysmorphisms, dentine abnormalities and acro-osteolysis. A comparison between the three OSMD cases with LRRK1 mutations with different ages suggested that the sclerotic lesions resolved with age. Our findings further support that LRRK1 would cause a subset of OSMD cases.

  6. Cancellous Screws Are Biomechanically Superior to Cortical Screws in Metaphyseal Bone.

    PubMed

    Wang, Tim; Boone, Christopher; Behn, Anthony W; Ledesma, Justin B; Bishop, Julius A

    2016-09-01

    Cancellous screws are designed to optimize fixation in metaphyseal bone environments; however, certain clinical situations may require the substitution of cortical screws for use in cancellous bone, such as anatomic constraints, fragment size, or available instrumentation. This study compares the biomechanical properties of commercially available cortical and cancellous screw designs in a synthetic model representing various bone densities. Commercially available, fully threaded, 4.0-mm outer-diameter cortical and cancellous screws were tested in terms of pullout strength and maximum insertion torque in standard-density and osteoporotic cancellous bone models. Pullout strength and maximum insertion torque were both found to be greater for cancellous screws than cortical screws in all synthetic densities tested. The magnitude of difference in pullout strength between cortical and cancellous screws increased with decreasing synthetic bone density. Screw displacement prior to failure and total energy absorbed during pullout strength testing were also significantly greater for cancellous screws in osteoporotic models. Stiffness was greater for cancellous screws in standard and osteoporotic models. Cancellous screws have biomechanical advantages over cortical screws when used in metaphyseal bone, implying the ability to both achieve greater compression and resist displacement at the screw-plate interface. Surgeons should preferentially use cancellous over cortical screws in metaphyseal environments where cortical bone is insufficient for fixation. [Orthopedics.2016; 39(5):e828-e832.]. Copyright 2016, SLACK Incorporated.

  7. Metaphyseal bone collapse mimicking slipped capital femoral epiphysis in severe renal osteodystrophy.

    PubMed

    Takao, Masaki; Hashimoto, Jun; Sakai, Takashi; Nishii, Takashi; Sugano, Nobuhiko; Yoshikawa, Hideki

    2012-11-01

    Slipped capital femoral epiphysis is a well-recognized skeletal complication of renal osteodystrophy in adolescence, which is distinct from idiopathic slipped capital femoral epiphysis in its etiology. We report a case of severe mixed-type renal osteodystrophy with metaphyseal bone collapse that mimicked slipped capital femoral epiphyses. Case history, laboratory and radiological evaluation, and bone biopsies are discussed. A 14-yr-old girl presented with left hip pain showing bilateral metaphyseal bone collapse accompanied with posterior-inferior displacement of capital femoral epiphyses after 2.5 yr of GH treatment. Blood chemistry, showing high levels of alkaline phosphatase and PTH, and a transiliac bone biopsy, indicating severe osteomalacia with osteitis fibrosa, along with serial computed tomography images of the hips from the presymptomatic stage, led to accurate diagnosis and successful treatment by administration of high-dose vitamin D. This case emphasizes the importance of controlling hyperparathyroidism well in children with chronic renal insufficiency, particularly at adolescence before initiating GH treatment. When children with renal insufficiency present with displacement of capital femoral epiphysis, it is necessary to evaluate the serum levels of alkaline phosphatase and PTH and metaphyseal bone quality below the physis.

  8. An inbred line of transgenic mice expressing an internally deleted gene for type II procollagen (COL2A1). Young mice have a variable phenotype of a chondrodysplasia and older mice have osteoarthritic changes in joints.

    PubMed Central

    Helminen, H J; Kiraly, K; Pelttari, A; Tammi, M I; Vandenberg, P; Pereira, R; Dhulipala, R; Khillan, J S; Ala-Kokko, L; Hume, E L

    1993-01-01

    Studies were carried out on a line of transgenic mice that expressed an internally deleted COL2A1 gene and developed a phenotype resembling human chondrodysplasias (Vandenberg et al. 1991. Proc. Natl. Acad. Sci. USA. 88:7640-7644. Marked differences in phenotype were observed with propagation of the mutated gene in an inbred strain of mice in that approximately 15% of the transgenic mice had a cleft palate and a lethal phenotype, whereas the remaining mice were difficult to distinguish from normal littermates. 1-d- and 3-mo-old transgenic mice that were viable showed microscopic signs of chondrodysplasia with reduced amounts of collagen fibrils in the cartilage matrix, dilatation of the rough surfaced endoplasmic reticulum in the chondrocytes, and decrease of optical path difference in polarized light microscopy. The transgenic mice also showed signs of disturbed growth as evidenced by lower body weight, lower length and weight of the femur, decreased bone collagen, decreased bone mineral, and decreased resistance of bone to breakage. Comparisons of mice ranging in age from 1 d to 15 mo demonstrated that there was decreasing evidence of a chondrodysplasia as the mice grew older. Instead, the most striking feature in the 15-mo-old mice were degenerative changes of articular cartilage similar to osteoarthritis. Images PMID:8349798

  9. The Oblique Metaphyseal Shortening Osteotomy of the Distal Ulna: Surgical Technique and Results of Ten Patients.

    PubMed

    Benis, Szabolcs; Goubau, Jean F; Mermuys, Koen; Van Hoonacker, Petrus; Berghs, Bart; Kerckhove, Diederick; Vanmierlo, Bert

    2017-02-01

    Background Ulnocarpal abutment is a common condition following distal radius fractures. There are different surgical methods of treatment for this pathology: open and arthroscopic wafer procedure or an ulnar shortening osteotomy. We describe an oblique metaphyseal shortening osteotomy of the distal ulna using two cannulated headless compression screws. We report the results of 10 patients treated with this method. Materials and Methods Out of 17 patients, 10 could be reviewed retrospectively for this study. Patient-rated outcomes were measured using the VAS (visual analogue scale) for pain, PRWHE (patient-rated wrist and hand evaluation) survey, and Quick-DASH (disability of arm, shoulder and hand) survey for functional outcomes. At the review we measured the range of motion (ROM) of the wrist (extension and flexion, ulnar and radial deviation, pronation and supination). Grip strength, pronation, and supination strength of the forearm was measured using a calibrated hydraulic dynamometer. ROM and strength of the affected wrist was compared with ROM and strength of the unaffected wrist. Surgical Procedure Oblique long metaphyseal osteotomy of the distal ulna (from proximal-ulnar to distal-radial), fixed with two cannulated headless compression screws. Results The average postoperative VAS score for pain was 23.71 (standard deviation [SD] of 30.41). The average postoperative PRWHE score was 32.55 (SD of 26.28). The average postoperative Quick-DASH score was 28.65 (SD of 27.21). The majority of patients had a comparable ROM and strength between the operated side and the non-operated side. Conclusion This surgical technique has the advantage of reducing the amount of hardware and to decrease the potential hinder caused by it on medium term. Moreover, the incision remains smaller, and the anatomic metaphyseal localization of the osteotomy potentially allows a better and rapid healing.

  10. Migration analysis of a metaphyseal anchored short-stem hip prosthesis

    PubMed Central

    2012-01-01

    Background and purpose Metaphyseal anchored short-stem hip implants were designed to improve load transmission and preserve femoral bone stock. Until now, only few outcome data have been available and migration studies are one of the few ways of obtaining data that are predictive of implant survival. We therefore evaluated a metaphyseal anchored short-stem hip implant by Ein Bild Roentgen Analyse femoral component analysis (EBRA-FCA). Patients and methods First, the EBRA-FCA method was validated for the short-stem hip implant. Then 80 of the first 100 consecutive implants were evaluated after at least 2 years. Clinical assessment was performed using the WOMAC and the UCLA score. Results After 2.7 (2.0–4.2), years none of the implants had been revised and by that time the stems had subsided by a mean of 0.7 mm (SD 1.8) (95% CI: 0.3–1.1). Of the 80 implants, 78 were stable after 2 years, with 74 being primary stable and 4 showing secondary stabilization after initial subsidence. Continuous migration was seen in only 2 patients. The clinical outcome showed good results with a mean WOMAC of 11 (SD 13) and a mean UCLA score of 7.3 (SD 2.0). [OK?] Interpretation The metaphyseal anchored short-stem hip implant showed good functional results and a high degree of stability after 2 years. The outcome is comparable to that of clinically proven conventional hip implants and if the results are confirmed by long-term studies, short-stem hip arthroplasty might be an alternative for young patients requiring hip replacement. PMID:22900913

  11. Mid-term results for metaphyseal sleeves in revision knee surgery.

    PubMed

    Martin-Hernandez, Carlos; Floria-Arnal, Luis Javier; Muniesa-Herrero, Maria Pilar; Espallargas-Doñate, Teresa; Blanco-Llorca, Jose Adolfo; Guillen-Soriano, Melchor; Ranera-Garcia, Miguel

    2016-09-17

    Metaphyseal titanium sleeves have been used to provide cementless fixation in challenging bone defects in revision knee arthroplasty. The aim of this study was to evaluate the mid-term results of radiological and clinical outcomes, for metaphyseal sleeves in type 1B and 2 defects of tibia and femur under the hypothesis that they would provide stable and prolonged fixation. One hundred and thirty-four patients were included in a prospective study to evaluate the outcomes of knee revision with sleeves, together with stems and varus-valgus constrained mobile bearing prosthesis. Median follow-up was 71.5 months (range 36-107). Analysis included American Knee Society Score (KSS), Western Ontario and Mcmaster Universities Osteoarthritis Index (WOMAC), SF12 Health Survey and radiographic assessment. All clinical scores improved significantly in all patients during the follow-up. The median of Knee KSS increased from 33 to 78 and functional KSS from 30 to 80. The median of WOMAC pain index changed from 12 to 4; pre-operative median of WOMAC stiffness and WOMAC function score improved from 5 to 2 and from 45 to 14, respectively. The median of physical SF12 varied from 27 to 44, while mental SF-12 from 43 to 54. Radiological evaluation showed optimal osseous integration in all patients, and neither implant migration nor progressive radiolucency around components was observed. Complications included three cases of end-of-stem pain at tibial side and two revisions due to septic loosening in the first post-operative year. No aseptic loosening was reported. The use of metaphyseal sleeves, in combination with uncemented stems and varus-valgus constrained components with rotating platform, has shown excellent mid-term results allowing osseous ingrowth with no evidence of osteolysis or displacement. This is a promising option for better implant fixation in revision TKA. Case series with no comparison group, Level IV.

  12. Differences of bone healing in metaphyseal defect fractures between osteoporotic and physiological bone in rats.

    PubMed

    Thormann, Ulrich; El Khawassna, Thaqif; Ray, Seemun; Duerselen, Lutz; Kampschulte, Marian; Lips, Katrin; von Dewitz, Helena; Heinemann, Sascha; Heiss, Christian; Szalay, Gabor; Langheinrich, Alexander C; Ignatius, Anita; Schnettler, Reinhard; Alt, Volker

    2014-03-01

    Discrepancies in bone healing between osteoporotic and non-osteoporotic bone remain uncertain. The focus of the current work is to evaluate potential healing discrepancies in a metaphyseal defect model in rat femora. Female Sprague-Dawley rats were either ovariectomized (OVX, n=14) and combined with a calcium-, phosphorus- and vitamin D3-, soy- and phytoestrogen-free diet or received SHAM operation with standard diet rat (SHAM, n=14). Three months post-ovariectomy, DEXA measurement showed a reduction of bone mineral density reflecting an osteoporotic bone status in OVX rats. Rats then underwent a 3 mm wedge-shaped osteotomy at the distal metaphyseal area of the left femur stabilized with a T-shaped mini-plate and allowed to heal for 6 weeks. Biomechanical competence by means of a non-destructive three-point bending test showed significant lower flexural rigidity in the OVX rats at 3 mm lever span compared to SHAM animals (p=0.048) but no differences at 10 mm lever span. Microcomputer tomography (μCT) showed bridging cortices and consolidation of the defect in both groups, however, no measurable differences were found in either total ossified tissue or vascular volume fraction. Furthermore, histology showed healing discrepancies that were characterized by cartilaginous remnant and more unmineralized tissue presence in the OVX rats compared to more mature consolidation appearance in the SHAM group. In summary, bone defect healing in metaphyseal bone slightly differs between osteoporotic and non-osteoporotic bone in the current 3 mm defect model in both 3mm lever span biomechanical testing and histology. Copyright © 2013 Elsevier Ltd. All rights reserved.

  13. Arnold Chiari Malformation With Sponastrime (Spondylar and Nasal Changes, With Striations of the Metaphyses) Dysplasia

    PubMed Central

    Jeong, Je Hoon; Lee, A Leum; Cho, Sung Yoon; Jin, Dong Kyu; Im, Soo-Bin

    2016-01-01

    Abstract SPOndylar and NAsal changes, with STRIations of the Metaphyses (SPONASTRIME) dysplasia (SD) is a dwarfing autosomal recessive syndrome, characterized by a variety of clinical and radiographic features, which form the basis for diagnosis. We describe the presentation of an Arnold Chiari malformation in a patient with a clinical diagnosis of SD. The malformation was successfully treated by decompression of the foramen magnum and elevation of the cerebellum, with complete resolution of pain. We report a rare case of Arnold Chiari malformation in a patient presenting with clinical and radiographic features strongly suggestive of SD and be successfully treated. PMID:27149441

  14. Minimizing the complications of intramedullary nailing for distal third tibial shaft and metaphyseal fractures

    PubMed Central

    Yaligod, Vishwanath; Rudrappa, Girish H.; Nagendra, Srinivas; Shivanna, Umesh M.

    2013-01-01

    Background The complications of intramedullary nailing of distal third tibial shaft and metaphyseal fractures have a direct impact on ankle and hind foot function. Methods We retrospectively evaluated 28 patients. Unreamed nail was negotiated across the well reduced fracture till subchondral bone and fixed with 2 to 3 distal locking screws in different planes. Results Fracture union rate was 85%. Three out of 28 patients had malalignment. Mean ankle, hindfoot functional score was 85. Conclusion Complications can be minimized by impacting the unreamed nail till the subchondral bone while maintaining the fracture well reduced and by using multiple distal locking screws in different planes. PMID:24719527

  15. Do estrogen and alendronate improve metaphyseal fracture healing when applied as osteoporosis prophylaxis?

    PubMed

    Kolios, Leila; Hoerster, Ann Kristin; Sehmisch, Stephan; Malcherek, Marie Christin; Rack, Thomas; Tezval, Mohammed; Seidlova-Wuttke, Dana; Wuttke, Wolfgang; Stuermer, Klaus Michael; Stuermer, Ewa Klara

    2010-01-01

    Osteoporosis is accompanied by predominantly metaphyseal fractures with a delayed and qualitatively reduced healing process. This study addressed the question of whether fracture healing in the context of osteoporosis prophylaxis is improved with estrogen (E) or alendronate (ALN). Thirty-six ovariectomized and 12 sham-operated 12-week-old rats received soy-free (osteoporotic C, sham), E-, or ALN- supplemented diets. After 10 weeks, a metaphyseal tibia osteotomy and standardized T-plate fixation were performed. After a 5-week healing process, the fracture callus was evaluated qualitatively by biomechanical bending test and quantitatively in microradiographic sections. The time course of callus formation was examined using fluorochrome-labeled histological sections. Administration of E improved the biomechanical properties of callus (stiffness [N/mm]: sham: 110.2 + or - 76.07, C: 41.28 + or - 33.70, E: 85.72 + or - 47.24, ALN: 72.07 + or - 34.68). The resistance to microfracturing seen in E-treated animals was significantly enhanced and even superior to sham (yield load [N] sham: 27.44 + or - 9.72, C: 21.04 + or - 12.47, E: 42.85 + or - 13.74(Delta), ALN: 25.28 + or - 6.4(.)) (* P < 0.05 vs. sham group, (Delta) P < 0.05 vs. C group, (*) P < 0.05 vs. E group). Trabecular bone in particular was improved, indicating the presence of physiological endosteal bridging (Tr.Dn [%] sham: 10.53 + or - 18.9, C: 1.01 + or - 0.14, E: 24.13 + or - 34.09(Delta), ALN: 3.99 + or - 8.3(.)). ALN did not help bone healing, as shown by mechanical tests. Compared to the C group, statistically, ALN did not show worse properties. The induction of callus formation under ALN treatment was slightly delayed (Tt.Cl [mm(2)] sham: 3.68 + or - 0.66, C: 3.44 + or - 0.42, E: 3.69 + or - 0.58, ALN: 3.06 + or - 0.56). Osteoporotic metaphyseal fracture healing was qualitatively and quantitatively improved by E prophylaxis. The process of fracture healing occurred nearly physiologically (shamlike

  16. Computer-assisted bone age assessment: image preprocessing and epiphyseal/metaphyseal ROI extraction.

    PubMed

    Pietka, E; Gertych, A; Pospiech, S; Cao, F; Huang, H K; Gilsanz, V

    2001-08-01

    Clinical assessment of skeletal maturity is based on a visual comparison of a left-hand wrist radiograph with atlas patterns. Using a new digital hand atlas an image analysis methodology is being developed. To assist radiologists in bone age estimation. The analysis starts with a preprocessing function yielding epiphyseal/metaphyseal regions of interest (EMROIs). Then, these regions are subjected to a feature extraction function. Accuracy has been measured independently at three stages of the image analysis: detection of phalangeal tip, extraction of the EMROIs, and location of diameters and lower edge of the EMROIs. Extracted features describe the stage of skeletal development more objectively than visual comparison.

  17. Severe Extracellular Matrix Abnormalities and Chondrodysplasia in Mice Lacking Collagen Prolyl 4-Hydroxylase Isoenzyme II in Combination with a Reduced Amount of Isoenzyme I.

    PubMed

    Aro, Ellinoora; Salo, Antti M; Khatri, Richa; Finnilä, Mikko; Miinalainen, Ilkka; Sormunen, Raija; Pakkanen, Outi; Holster, Tiina; Soininen, Raija; Prein, Carina; Clausen-Schaumann, Hauke; Aszódi, Attila; Tuukkanen, Juha; Kivirikko, Kari I; Schipani, Ernestina; Myllyharju, Johanna

    2015-07-03

    Collagen prolyl 4-hydroxylases (C-P4H-I, C-P4H-II, and C-P4H-III) catalyze formation of 4-hydroxyproline residues required to form triple-helical collagen molecules. Vertebrate C-P4Hs are α2β2 tetramers differing in their catalytic α subunits. C-P4H-I is the major isoenzyme in most cells, and inactivation of its catalytic subunit (P4ha1(-/-)) leads to embryonic lethality in mouse, whereas P4ha1(+/-) mice have no abnormalities. To study the role of C-P4H-II, which predominates in chondrocytes, we generated P4ha2(-/-) mice. Surprisingly, they had no apparent phenotypic abnormalities. To assess possible functional complementarity, we established P4ha1(+/-);P4ha2(-/-) mice. They were smaller than their littermates, had moderate chondrodysplasia, and developed kyphosis. A transient inner cell death phenotype was detected in their developing growth plates. The columnar arrangement of proliferative chondrocytes was impaired, the amount of 4-hydroxyproline and the Tm of collagen II were reduced, and the extracellular matrix was softer in the growth plates of newborn P4ha1(+/-);P4ha2(-/-) mice. No signs of uncompensated ER stress were detected in the mutant growth plate chondrocytes. Some of these defects were also found in P4ha2(-/-) mice, although in a much milder form. Our data show that C-P4H-I can to a large extent compensate for the lack of C-P4H-II in proper endochondral bone development, but their combined partial and complete inactivation, respectively, leads to biomechanically impaired extracellular matrix, moderate chondrodysplasia, and kyphosis. Our mouse data suggest that inactivating mutations in human P4HA2 are not likely to lead to skeletal disorders, and a simultaneous decrease in P4HA1 function would most probably be required to generate such a disease phenotype. © 2015 by The American Society for Biochemistry and Molecular Biology, Inc.

  18. [Change on the rate of children's finger metaphysics in the non-Kaschin-Beck disease areas of China].

    PubMed

    Gao, Mei; Liu, Yunqi; Zhou, Lingwang; Liu, Hui; Deng, Qing; Song, Jiucheng; Yu, Jun

    2014-11-01

    36 non-Kaschin-Beck disease villages in five provinces including Jilin, Liaoning, Shaanxi, Shanxi and Inner Mongolia in the severe endemic areas of Kaschin-Beck disease (KBD) were selected. The aim of this project was to provide the basis showing these KBD villages had already eliminated the KBD. Fully digital versatile X-ray radiography systems(DR) was used to shoot children's right hand X-ray, in accordance with the "Kashin-Beck Disease Diagnosis Standard" (WS/T 207-2010) for diagnosis. Results indicated that children showing metaphyseal changes only appeared in 13 of the 36 villages, where the rate of change on metaphyseal was less than or equal to three percent. When KBD had been eliminated in a village, the rate of change on aged 7 to 12 children's metaphyseal would have been less than three percent.

  19. Use of stepped porous titanium metaphyseal sleeves for tibial defects in revision total knee arthroplasty: short term results.

    PubMed

    Barnett, Steven L; Mayer, Ryan R; Gondusky, Joseph S; Choi, Leera; Patel, Jay J; Gorab, Robert S

    2014-06-01

    Stepped porous titanium metaphyseal sleeves may provide an option for enhanced fixation in managing challenging tibial defects in revision total knee arthroplasty (TKA). We retrospectively reviewed data on 51 patients who underwent revision TKA utilizing a metaphyseal sleeve for Anderson Orthopaedic Research Institute (AORI) Type II and III tibial defects between June 2007 and July 2011. Of these 51 patients, 36 patients had complete clinical and radiographic data. At final follow-up (mean: 38 months) significant improvements in knee range of motion and Knee Society scores were observed postoperatively (P < 0.001). Four revision procedures were necessary, but none for aseptic implant fixation failure. Radiographic review at final follow-up revealed stable, osteointegrated components without component migration or clinically significant osteolysis. Metaphyseal sleeve use in the management of moderate to severe tibial defects in revision TKA resulted in satisfactory clinical outcomes and is a versatile option for achieving stable fixation.

  20. Interpretations of Probability in Quantum Mechanics: A Case of "Experimental Metaphysics"

    NASA Astrophysics Data System (ADS)

    Hellman, Geoffrey

    After reviewing paradigmatic cases of "experimental metaphysics" basing inferences against local realism and determinism on experimental tests of Bells theorem (and successors), we concentrate on clarifying the meaning and status of "objective probability" in quantum mechanics. The terms "objective" and "subjective" are found ambiguous and inadequate, masking crucial differences turning on the question of what the numerical values of probability functions measure vs. the question of the nature of the "events" on which such functions are defined. This leads naturally to a 2×2 matrix of types of interpretations, which are then illustrated with salient examples. (Of independent interest are the splitting of "Copenhagen interpretation" into "objective" and "subjective" varieties in one of the dimensions and the splitting of Bohmian hidden variables from (other) modal interpretations along that same dimension.) It is then explained why Everett interpretations are difficult to categorize in these terms. Finally, we argue that Bohmian mechanics does not seriously threaten the experimental-metaphysical case for ultimate randomness and purely physical probabilities.

  1. Pullout strength of monocortical and bicortical screws in metaphyseal and diaphyseal regions of the canine humerus.

    PubMed

    Vaughn, Denty Paul; Syrcle, Jason Alan; Ball, John E; Elder, Steven H; Gambino, Jennifer Michele; Griffin, Russell L; McLaughlin, Ronald M

    2016-11-23

    Monocortical screws are commonly employed in locking plate fixation, but specific recommendations for their placement are lacking and use of short monocortical screws in metaphyseal bone may be contraindicated. Objectives of this study were to evaluate axial pullout strength of two different lengths of monocortical screws placed in various regions of the canine humerus compared to bicortical screws, and to derive cortical thickness and bone density values for those regions using quantitative computed tomography analysis (QCT). The QCT analysis was performed on 36 cadaveric canine humeri for six regions of interest (ROI). A bicortical, short monocortical, or 50% transcortical 3.5 mm screw was implanted in each ROI and axial pullout testing was performed. Bicortical screws were stronger than monocortical screws in all ROI except the lateral epicondylar crest. Short monocortical metaphyseal screws were weaker than those placed in other regions. The 50% transcortical screws were stronger than the short monocortical screws in the condyle. A linear relationship between screw length and pullout strength was observed. Cortical thickness and bone density measurements were obtained from multiple regions of the canine humerus using QCT. Use of short monocortical screws may contribute to failure of locking plate fixation of humeral fractures, especially when placed in the condyle. When bicortical screw placement is not possible, maximizing monocortical screw length may optimize fixation stability for distal humeral fractures.

  2. Gadolinium-enhanced MR imaging of epiphyseal and metaphyseal marrow in normal piglets.

    PubMed

    Li, Xiaoming; Wang, Renfa; Qi, Jianpin; Tang, Lihua

    2005-01-01

    The purpose of this study is to define the appearance of normal epiphyseal and metaphyseal marrow and normal changes of marrow due to fatty conversion on Gadolinium (Gd)-enhanced MR Imaging. Unenhanced and enhanced T1-weighted MR imaging were performed in proximal and distal femoral ends of 8 healthy piglets at the ages of 2, 4, 6 and 8 weeks, respectively. The changes with age in signal intensity and enhancement ratio of the epiphyseal and metaphyseal marrow with age were examined. The correlation of MRI characteristics with histological findings was studied. Our study showed that marrow of the metaphysis and of periphery of the 2nd ossification center were well vascularized hematopoietic marrow and had great enhancements. The enhancement ratio of metaphysis was greater than that of epiphyseal marrow and both enhancement ratios degraded gradually with age. The central regions of the epiphyseal ossification center and of the diaphysis were of fatty marrow and had little enhancement. It is concluded that on Gd-enhanced MR imaging the hematopoietic marrow of metaphysis and of periphery of the 2nd ossification center had greater enhancement than that of fatty marrow of central region of the 2nd ossification center. All of their enhancements decreased gradually with age.

  3. Clinical and genetic analysis of a Korean patient with X-linked chondrodysplasia punctata: identification of a novel splicing mutation in the ARSE gene.

    PubMed

    Jeon, Ga Won; Kwon, Min-Jung; Lee, Sun Joo; Sin, Jong Beom; Ki, Chang-Seok

    2013-01-01

    X-linked recessive chondrodysplasia punctata (CDPX1) is a rare congenital disorder of bone and cartilage development, characterized by punctate calcification in areas of endochondral bone formation, leading to stippled epiphyses, severe nasal and midfacial hypoplasia, short stature, and brachytelephalangy. CDPX1 is caused by mutations in the arylsulfatase E (ARSE) gene located on chromosome Xp22.3. Although most affected males have milder symptoms, some have significant medical problems including respiratory compromise and cervical spinal stenosis due to dysplastic vertebrae. Herein, we present the case of a male infant with the characteristic features of CDPX1 and severe spinal cord compression. Direct sequencing analysis revealed a novel variation (c.430G>A) in the ARSE gene that was thought to be a missense mutation (p.Gly144Arg), but proved to be a novel splicing mutation (r.[430g>a; 430_431ins430+1_430+21) adding seven amino acids between p.Ile143 and p.Gly144 (p.Ile143_Gly-144insSerMetTyrValPheLysSer). This report expands the spectrum of mutations of the ARSE gene and, to the best of our knowledge, is the first clinically and genetically confirmed case of CDPX1 with severe spinal cord compression in Korea.

  4. Expression of a partially deleted gene of human type II procollagen (COL2A1) in transgenic mice produces a chondrodysplasia

    SciTech Connect

    Vandenberg, P.; Khillan, J.S.; Prockop, D.J.; Helminen, H.; Kontusaari, S.; Ala-Kokko, L. )

    1991-09-01

    A minigene version of the human gene for type II procollagen (COL2AI) was prepared that lacked a large central region containing 12 of the 52 exons and therefore 291 of the 1523 codons of the gene. The construct was modeled after sporadic in-frame deletions of collagen genes that cause synthesis of shortened pro{alpha} chains that associate with normal pro{alpha} chains and thereby cause degradation of the shortened and normal pro{alpha} chains through a process called procollagen suicide. The gene construct was used to prepare five lines of transgenic mice expressing the minigene. A large proportion of the mice expressing the minigene developed a phenotype of a chondrodysplasia with dwarfism, short and thick limbs, a short snout, a cranial bulge, a cleft palate, and delayed mineralization of bone. A number of mice died shortly after birth. Microscopic examination of cartilage revealed decreased density and organization of collagen fibrils. In cultured chondrocytes from the transgenic mice, the minigene was expressed as shortened pro{alpha}1(II) chains that were disulfide-linked to normal mouse pro{alpha}1(II) chains. Therefore, the phenotype is probably explained by depletion of the endogenous mouse type II procollagen through the phenomenon of procollagen suicide.

  5. A witnessed case of a classic metaphyseal fracture caused during IV line placement in a child: Insight into mechanism of injury.

    PubMed

    Burrell, Tanya; Opfer, Erin; Berglund, Lisa; Lowe, Lisa H; Anderst, James

    2015-10-01

    Recent publications argue that classic metaphyseal fractures are caused by rickets as opposed to trauma. Previous case reports of accidental traumatic classic metaphyseal fractures have been discounted due to lack of identification of the fracture at the time of the traumatic event, and lack of an evaluation for boney metabolic disorders. We report a case of a 20 day old male with a diagnosis of congenital vertical talus who sustained a classic metaphyseal fracture of the distal tibia during manipulation in preparation for intravenous line placement. The mechanics of the event causing the classic metaphyseal fracture were witnessed and accompanied by an audible "pop". Prior x-rays of the tibia demonstrate normal osseous morphology, and an evaluation for boney metabolic disorders was normal. This case identifies a traumatic classic metaphyseal fracture and provides insight into the types of forces necessary to cause such a fracture.

  6. Lower Limb Metaphyseal Bone Is Lost in Men with Coeliac Disease and Does Not Relate to Parathyroid Status

    PubMed Central

    Evans, Sally F.

    2016-01-01

    Aims. To investigate regional lower limb bone density and associations with weight, PTH, and bone breakdown in coeliac men. Methods. From whole body DXA scans bone mineral density (BMD) was measured in 28 coeliac men, in the lower limb (subdivided into 6 regions, 3 being metaphyseal (mainly trabecular) and 2 diaphyseal (mainly cortical)). BMD at femoral neck (FN) and lumbar spine L2–4, body weight, height, serum calcium, alkaline phosphatase, parathyroid hormone (PTH), and urinary calcium and NTx/Cr, a measure of bone breakdown, were also measured. Age matched healthy men provided values for BMD calculation of z and T scores and for biochemical measurements. Results. Low BMD z scores were found at metaphyseal regions in the leg (p < 0.001) and in the FN (p < 0.05). The distal metaphyseal region BMD in the leg was lower than spine or FN (p < 0.05). PTH, urinary calcium/creatinine, and urinary NTx/Cr were similar to controls. Both metaphyseal and diaphyseal BMD z scores were associated with body weight (p < 0.02), but not with either PTH or urinary NTx/Cr. Conclusions. Low BMD lower limb regions comprising mostly trabecular bone occur early in CD and in the absence of elevated PTH or increased bone resorption. Low BMD is associated with low body weight. PMID:27672477

  7. Use of mineralized collagen bone graft substitutes and dorsal locking plate in treatment of elder metaphyseal comminuted distal radius fracture

    NASA Astrophysics Data System (ADS)

    Liu, Ke-Bin; Huang, Kui; Teng, Yu; Qu, Yan-Zheng; Cui, Wei; Huang, Zhen-Fei; Sun, Ting-Fang; Guo, Xiao-Dong

    2014-03-01

    Bone graft may be needed to fill bone defect in elderly patients with a metaphyseal comminuted distal radius fracture. In this retrospective, nonrandomized, single-surgeon study, we evaluated the clinical and radiologic outcomes of using both dorsal locking plates with or without augmentation with mineralized collagen (MC) bone graft for elderly patients with dorsally metaphyseal comminuted radius fractures. Patients in group 1 ( n = 12) were treated with dorsal locking plates with MC bone graft application into the metaphyseal bone defect, and those in group 2 ( n = 12) only with dorsal locking plates. Clinical and radiologic parameters were determined at three and 12 months after surgery. At final follow-up, no significant difference was noted between the 2 groups in terms of palmar tilt and radial inclination ( p = 0.80); however, ulnar variance increased significantly in the group 2 treated with dorsal locking plates without augmentation ( p < 0.05). Functionally, there was no significant difference between the groups. Our preliminary study suggests that combination of MC as bone-graft substitutes and dorsal locking plates may be a usefully alternative for elderly patients with metaphyseal comminuted distal radius fracture.

  8. Minimally invasive plating of high-energy metaphyseal distal tibia fractures.

    PubMed

    Collinge, Cory; Kuper, Mark; Larson, Kirk; Protzman, Robert

    2007-07-01

    The purpose of this study is to evaluate clinical results and outcomes of a strict cohort of high-energy injuries of the metaphyseal distal tibia with minimal or no intraarticular involvement treated using the minimally invasive plating concept. Level II trauma center. Retrospective analysis of a consecutive case series with limb-specific and whole-person outcomes measures. Minimally invasive medial plating for high-energy metaphyseal fractures of the distal tibia with little or no intraarticular involvement. Clinical and radiographic results were assessed at a minimum of 1 year, and outcomes measures were applied at final follow-up at a minimum of 2 years. Limbs were assessed with the American Orthopaedic Foot and Ankle Surgeons (AOFAS) ankle-hindfoot instrument and the method of Olerud and Molander. Patient outcomes were evaluated with the Short Form-36 (SF-36) and the Musculoskeletal Functional Assessment (MFA). Twenty-six patients were followed until healed at an average of 36 months (12-56 months). Mean fracture healing time was 35 weeks (12-112 weeks) with acceptable alignment restored (angulation2 years were comparable to normative data of patients with uninjured limbs, whereas MFA results showed functional deficits in 4 of 10 subsections. Minimally invasive medial plating will restore limb alignment and yield successful clinical outcomes for high-energy metaphyseal fractures of the distal tibia. Despite the significant reoperation rate and prolonged time to union, most patients can expect a predictable return of function. Strong consideration should be given to adjunctive measures in at-risk patients, including those with highly

  9. Stress and human spirituality 2000: at the cross roads of physics and metaphysics.

    PubMed

    Seaward, B L

    2000-12-01

    Although stress is defined as a perceived threat, the implications of stress go well beyond physical well-being. In the words of Carl Jung, "Every crisis is a spiritual crisis." Western science, so strongly influenced by the Cartesian Principle of Reductionism, has ignored the essence and significance of human spirituality in the health and healing process. Holistic healing honors the integration, balance, and harmony of mind, body, spirit, and emotions, where the whole is greater than the sum of the parts. Stress (unresolved issues of anger and fear) chokes the human spirit, the life force of human energy, which ultimately affects the physical body. From the perspectives of both physics and metaphysics, stress is a disruption in the state of coherence between the layers of consciousness in the human energy field. The emerging paradigm of health reunites mind, body, and spirit, and considers health as a function of coherence among the energy levels of these components.

  10. On Darwin's 'metaphysical notebooks'. I: teleology and the project of a theory.

    PubMed

    Calabi, L

    2001-01-01

    Huxley's essay On the Reception of the 'Origin of Species' brings us close to the issue of cause and of why- and how-questions in the understanding of the living world. The present contribution, which is divided into two parts, reviews the problem of Teleology as conceived by Huxley and re-examines Darwin as the author who revealed the existence of a 'foundations problem' in the explanation of an entire realm of nature, i.e., the problem of explaining such realm in terms of its own, specific legality, or iuxta sua propria principia. In the first part the enquiry is mainly focused on the secularization of natural history after Paley; in the second part it is mainly focused on the desubjectivization of the inquiry into natural history after Erasmus Darwin and Lamarck. The second part will be published in the next issue of Rivista di Biologia/Biology Forum. In the first part below an analysis is made of Notebooks M and N. The author disputes the correctness of conceiving them only as the works where Darwin envisages the 'metaphysical' themes later to become the subject of The Expression of the Emotions. He suggests to conceive of them also as the works where Darwin defines the terms of the general project of his own, peculiar evolutionary theory. The author then outlines the intellectual progress of Darwin from the inosculation to the transmutation hypotheses. Darwin's reading of Malthus appears to be analytically decisive, because it offers him the vintage point to attack the metaphysical and theological citadels on the morphological side. Darwin is thus able to re-consider Erasmus' comprehensive zoonomic project, by displacing it, however, from the old idea of the scala naturae to the new one of the "coral of life", and by emphasising the distinction between "the fittest" and "the best" vs. the tradition of Natural Theology.

  11. Rigid Occipitocervical Instrumented Fusion for Atlantoaxial Instability in an 18-month-old Toddler with Brachytelephalangic Chondrodysplasia Punctata: A Case Report.

    PubMed

    Oba, Hiroki; Takahashi, Jun; Takano, Kyoko; Inaba, Yuji; Motobayashi, Mitsuo; Nishimura, Gen; Kuraishi, Shugo; Shimizu, Masayuki; Ikegami, Shota; Futatsugi, Toshimasa; Uehara, Masashi; Kosho, Tomoki; Kato, Hiroyuki; Uno, Koki

    2017-03-23

    Case report OBJECTIVE.: We report here on an 18-month-old boy with brachytelephalangic chondrodysplasia punctata (BCDP), whose atlantoaxial instability was successfully managed with occipitocervical instrumented fusion (OCF) using screw and rod instrumentations. Recently, there have been a number of reports on BCDP with early onset of cervical myelopathy. Surgical OCF is a vital intervention to salvage affected individuals from the life-threatening morbidity. Despite recent advancement of instrumentation techniques, however, rigid OCF is technically demanding in very young children with small and fragile osseous elements. To our best knowledge, this is the first report on application of the instrumentation technique to a toddler patient with BCDP. A 16-month-old boy with BCDP presented with tetraplegia and swallow obstacle. Hypoplasia of the odontoid process and atlantoaxial instability were present in lateral radiographs. T2 weighted MR images revealed a high signal region in the spinal cord at the C1-2 and C7-T1 levels. Cervical CT showed the pedicles and lateral masses in the cervical spine were small and immature but the laminae were comparatively thick. One week prior to surgery, the patient was fitted with a Halo-body jacket. We performed plate-rod placement with occipital cortical screws and C2/C3 interlaminar screws, and added an autogenous bone graft using the right 8 and 9 ribs. Rigid fixation of the occipito-cervical spine was completed successfully without major complications. Postoperative halo-body jacket immobilization was continued for 3 months, after which Aspen collar was fitted. CT confirmed occipitocervical bone fusion at 6 months after surgery. Mild clinical improvements in motor power of the affected muscles and swallowing were witnessed at one year postoperatively. Rigid fixation using screw, rod, and occipital plate instrumentation was successful in a 18-month-old toddler with BCDP and atlantoaxial instability. Bone fusion was achieved at

  12. Mutations in MMP9 and MMP13 Determine the Mode of Inheritance and the Clinical Spectrum of Metaphyseal Anadysplasia

    PubMed Central

    Lausch, Ekkehart; Keppler, Romy; Hilbert, Katja; Cormier-Daire, Valerie; Nikkel, Sarah; Nishimura, Gen; Unger, Sheila; Spranger, Jürgen; Superti-Furga, Andrea; Zabel, Bernhard

    2009-01-01

    The matrix metalloproteinases MMP9 and MMP13 catalyze the degradation of extracellular matrix (ECM) components in the growth plate and at the same time cleave and release biologically active molecules stored in the ECM, such as VEGFA. In mice, ablation of Mmp9, Mmp13, or both Mmp9 and Mmp13 causes severe distortion of the metaphyseal growth plate. We report that mutations in either MMP9 or MMP13 are responsible for the human disease metaphyseal anadysplasia (MAD), a heterogeneous group of disorders for which a milder recessive variant and a more severe dominant variant are known. We found that recessive MAD is caused by homozygous loss of function of either MMP9 or MMP13, whereas dominant MAD is associated with missense mutations in the prodomain of MMP13 that determine autoactivation of MMP13 and intracellular degradation of both MMP13 and MMP9, resulting in a double enzymatic deficiency. PMID:19615667

  13. Risk factors affecting metaphyseal irregularities in the radius and ulna of growing Newfoundland dogs.

    PubMed

    Trangerud, C; Meuwissen, T; Ropstad, E; Indrebø, A; Grøndalen, J; Moe, L

    2007-10-01

    The main objective of this study was to study risk factors affecting metaphyseal irregularities (MI) in the distal radius and ulna of growing Newfoundland dogs. Risk factors studied included the genetic effects, effects of litters, BW, circumferences of the distal radius and ulna (CDRU), and total serum alkaline phosphatase (ALP) concentrations. The study included 118 Newfoundland dogs (60 females, 58 males), derived from 32 litters. Body weight, separated on sex and MI, was fitted to the Gompertz function. Occurrence of MI differed significantly between sexes, with 55% of males and 35% of females affected (P = 0.03). Growth curves for the 2 groups of dogs, with and without MI, diverged after 60 to 70 d, and dogs with irregularities were heavier at maturity than dogs of the same sex without irregularities. In univariate analysis, the litter effect was a significant predictor of MI, explaining 32% of total variability of the MI incidence, but the genetic effects were not significant. However, the latter were significant in bivariate analysis of MI and BW. In the bivariate analysis, the effects of litter on MI and BW were significantly correlated at all observational points except at birth, 180 d, and 536 d. Total ALP concentrations decreased with increasing age, and differences between groups diminished with increasing age, indicating a negative effect of total ALP on MI. Correlation between MI and total ALP concentrations of litters was estimated in a bivariate analysis. This correlation was significant and ranged between -0.34 and -0.62. Similarly, the genetic relationship between total ALP and MI from 120 d of age onward varied between -0.31 to -0.60. However, correlations were only significant at 356 d of age (genetic correlation = 0.60; P = 0.01). The mean CDRU increased from 90 d of age toward a peak at 180 d. Thereafter, CDRU declined and stabilized at about 1 yr of age. The mean CDRU between the groups of dogs with and without MI diverged most at 90 d of age

  14. Intraosseous fat necrosis and metaphyseal osteonecrosis in a patient with chronic pancreatitis: MR imaging and CT scanning.

    PubMed

    L'Hirondel, J L; Fournier, L; Fretille, A; Denizet, D; Loyau, G

    1994-01-01

    Necrosis of fatty bone marrow is an unusual complication of several pancreatic disorders. We describe a patient with polyarthritis, sterile subcutaneous abscess and osteolysis arising during the course of alcoholic chronic pancreatitis. MR images of one knee showed multiple foci of abnormal signal intensity within the marrow of the distal femur and proximal tibia, consistent with intraosseous fat necrosis. CT scans showed significant changes in the cancellous bone in these areas compatible with metaphyseal osteonecrosis.

  15. Puppy line, metaphyseal sclerosis, and caudolateral curvilinear and circumferential femoral head osteophytes in early detection of canine hip dysplasia.

    PubMed

    Risler, Amanda; Klauer, Julia M; Keuler, Nicholas S; Adams, William M

    2009-01-01

    Ventrodorsal extended hip radiographs were analyzed from Foxhounds, Irish setters, Greyhounds, and Labrador retrievers radiographed four to seven times between 8 and 110 weeks of age. Occurrence in these 91 dogs of a puppy line, an ill-defined zone of proximal femoral metaphyseal sclerosis, a femoral neck linear sclerosis, or circumferential linear femoral head osteophytosis at 15-17 weeks of age were compared with hip joint laxity, as measured by distraction index, and to later findings of caudal curvilinear femoral neck osteophytes, circumferential femoral head osteophytes, hip incongruity consistent with hip dysplasia and degenerative joint disease by 52 weeks of age. A puppy line and/or femoral metaphyseal sclerosis was common at 15-17 weeks of age for dogs at mimimal risk (Greyhounds) and high risk (Foxhounds) of developing early degenerative joint disease associated with canine hip dysplasia. Though 44% of Greyhound hips had puppy lines and 28% had femoral metaphyseal sclerosis at 15-17 weeks of age, no Greyhound had a caudolateral curvilinear osteophyte or circumferential femoral head osteophyte at 24-27 or 52 weeks of age. No significant relationship was found between occurrence of a puppy line, a circumferential femoral head osteophyte or femoral metaphyseal sclerosis at 15-17 weeks and canine hip dysplasia or degenerative joint disease incidence at 42-52 weeks. Presence of a caudolateral curvilinear osteophyte in at least one hip at 24-27 weeks was significantly related to the diagnosis of canine hip dysplasia by 42-52 weeks. When both a caudolateral curvilinear osteophyte and a circumferential femoral head osteophyte were present in a hip at 24-27 weeks, degenerative joint disease was evident in all such hips by 42-52 weeks of age.

  16. METAPHYSEAL CORTICAL DEFECT AND TUMOR-LIKE PROCESSES OF LONG BONES (A LITERATURE REVIEW AND OWN OBSERVATIONS).

    PubMed

    Lysenko, N; Sharmazanova, Ye; Voronzhev, I; Sorochan, A; Kolomiychenko, Yu

    2017-01-01

    Metaphyseal cortical defect (metaphyseal fibrous defect, cortical fibrous defect) of the long bones is a quite common variant of the bone structure's pathologic changes. The cortical defects and similar to their tumor-like processes (non-ossifying fibroma, benign fibrous histiocytoma etc.) are characterized by particular qualities of the clinical symptoms and radiologic signs. The aim of this article is to analyze a known literature data about cortical fibrous defects of long bones and similar to their tumor-like processes and present results of our own observations. We have observed 52 patients with different variants of bone lesions (metaphyseal cortical defect as the variant of pathological bone restructuring, local form of fibrous dysplasia, giant cell tumor, solitary done cyst, benign fibrous histiocytoma, non-ossifying fibroma). Complex clinical and radiologic differential diagnosis is based on a thorough study of the history findings, the degree of pain intensity and radiologic signs of pathological processes (location, sizes, number of destruction nodes as well as dynamics of changing). Revealed features along with histological verification undoubtedly influence on choice of medical tactics.

  17. The metaphyseal bone defect in distal radius fractures and its implication on trabecular remodeling-a histomorphometric study (case series).

    PubMed

    Lutz, Martin; Steck, Roland; Sitte, Ingrid; Rieger, Michael; Schuetz, Michael; Klestil, Thomas

    2015-05-09

    The invention of the locking plate technology leads to alterations of treatment strategies at metaphyseal fracture sites with the concept of spontaneous remodeling of trabecular bone voids. Whereas trabecular regeneration has been proven in experimental animal studies, no histologic data exist on human fracture healing with special emphasis on bone voids. In order to qualify the trabecular bone remodeling capacity in vivo, bone specimens from the metaphyseal bone void were analyzed 14 months after trauma using quantitative histomorphometry. Twenty-five patients with an unstable dorsally displaced distal radius fracture were fixed with a palmar locking plate without additional bone graft or substitute. At implant removal, specimens from the previous compression void were harvested with a trephine in a volar-dorsal direction. In 16 patients, histomorphometric analysis could be performed, comparing the dorsal trabecular network with the volar, non-compressed ultrastructure. Significant differences for bone volume/total volume (BV/TV), trabecular number (TbN) and trabecular separation (TbSp), but not for trabecular thickness (TbTh) and osteoid volume/total volume (OV/TV), were detected. Neither patient age, defect size nor gender had a significant influence on bone remodeling. The results of this study indicate that trabecular bone remodeling does not lead to pre-trauma bone quality in metaphyseal bone compression voids following reduction and application of a locking plate.

  18. The uncertain foundation of neo-Darwinism: metaphysical and epistemological pluralism in the evolutionary synthesis.

    PubMed

    Delisle, Richard G

    2009-06-01

    The Evolutionary Synthesis is often seen as a unification process in evolutionary biology, one which provided this research area with a solid common theoretical foundation. As such, neo-Darwinism is believed to constitute from this time onward a single, coherent, and unified movement offering research guidelines for investigations. While this may be true if evolutionary biology is solely understood as centred around evolutionary mechanisms, an entirely different picture emerges once other aspects of the founding neo-Darwinists' views are taken into consideration, aspects potentially relevant to the elaboration of an evolutionary worldview: the tree of life, the ontological distinctions of the main cosmic entities (inert matter, biological organisms, mind), the inherent properties of self-organizing matter, evolutionary ethics, and so on. Profound tensions and inconsistencies are immediately revealed in the neo-Darwinian movement once this broader perspective is adopted. This pluralism is such that it is possible to identify at least three distinct and quasi-incommensurable epistemological/metaphysical frameworks as providing a proper foundation for neo-Darwinism. The analysis of the views of Theodosius Dobzhansky, Bernhard Rensch, and Ernst Mayr will illustrate this untenable pluralism, one which requires us to conceive of the neo-Darwinian research agenda as being conducted in more than one research programme or research tradition at the same time.

  19. Heidegger, environmental ethics, and the metaphysics of nature: inhabiting the earth in a technological age

    SciTech Connect

    Foltz, B.V.

    1985-01-01

    Previous studies of philosophical problems concerning the human disruption and destruction of the natural environment have tended to presuppose (a) that the problems themselves are adequately defined by the natural sciences, and (b) that the proper philosophical approach is by means of an ethics that restricts itself to determining the character and limits of moral obligation. This dissertation (a) argues that modern natural science, which is expected to define the problem of an environmental crisis, itself employs a concept of nature, derived from the metaphysical tradition, that is generative of the very problems to be resolved; (b) develops, on the basis of Heidegger's rethinking of the traditional question of being, a more adequate understanding of nature; and (c) shows that the resolution of these problems can best be accomplished by means of a more broadly conceived ethics that closes the breach between theory and praxis by articulating an appropriate manner of comportment toward entities as a whole (and not soley human, nor even sentient, entities) which displays an integration of thought and action, and which Heidegger calls inhabitation or dwelling.

  20. The problem of contextuality and the impossibility of experimental metaphysics thereof

    NASA Astrophysics Data System (ADS)

    Hermens, Ronnie

    Recently a new impulse has been given to the experimental investigation of contextuality. In this paper we show that for a widely used definition of contextuality there can be no decisive experiment on the existence of contextuality. To this end, we give a clear presentation of the hidden variable models due to Meyer, Kent and Clifton (MKC), which would supposedly nullify the Kochen-Specker theorem. Although we disagree with this last statement, the models do play a significant role in the discussion on the meaning of contextuality. In fact, we introduce a specific MKC-model of which we show that it is non-contextual and completely in agreement with quantum mechanical predictions. We also investigate the possibility of other definitions of non-contextuality-with an emphasis on operational definitions-and argue that any useful definition relies on the specification of a theoretical framework. It is therefore concluded that no experimental test can yield any conclusions about contextuality on a metaphysical level.

  1. Interpretations of Probability in Quantum Mechanics: A Case of ``Experimental Metaphysics''

    NASA Astrophysics Data System (ADS)

    Hellman, Geoffrey

    After reviewing paradigmatic cases of “experimental metaphysics” basing inferences against local realism and determinism on experimental tests of Bells theorem (and successors), we concentrate on clarifying the meaning and status of “objective probability” in quantum mechanics. The terms “objective” and “subjective” are found ambiguous and inadequate, masking crucial differences turning on the question of what the numerical values of probability functions measure vs. the question of the nature of the “events” on which such functions are defined. This leads naturally to a 2×2 matrix of types of interpretations, which are then illustrated with salient examples. (Of independent interest are the splitting of “Copenhagen interpretation” into “objective” and “subjective” varieties in one of the dimensions and the splitting of Bohmian hidden variables from (other) modal interpretations along that same dimension.) It is then explained why Everett interpretations are difficult to categorize in these terms. Finally, we argue that Bohmian mechanics does not seriously threaten the experimental-metaphysical case for ultimate randomness and purely physical probabilities.

  2. Implementation of digital stereo imaging for analysis of metaphyses and joints in skeletal collections.

    PubMed

    Kearfott, K J; Juang, R J; Marzke, M W

    1993-03-01

    The surface structure of the growing portion of bones, called the metaphysis, contains clues about the locomotor characteristics of various species. Present methods of capturing this anthropologically interesting surface are time-consuming and subject to human error. The research implements a digital stereo imaging technique for bone metaphyses and joints in skeletal collections. The corresponding points in two images collected from different angles are determined using an area-based correlation matching method. The depths of matched points are computed from the difference in location of the points in the two images. The paper presents a practical implementation of computer vision for anthropology using an 80286-based personal computer, a camera and a video digitiser. The stereo matching algorithm, a practical implementation of classical stereo imaging methods, takes less than 1 min and produces reasonable representations of mammal bones. The accuracy of the depth measurements ranged from 0.7 to 12 per cent for 45-150 cm object-camera distances. False matches occurred in approximately 6 per cent of the total matched points.

  3. An Uncemented Spreading Stem for the Fixation in the Metaphyseal Femur: A Preliminary Report

    PubMed Central

    Burger, Daniel; Pumberger, Matthias; Fuchs, Bruno

    2016-01-01

    Surgical treatment to restore full range of motion and full weight bearing after extensive femoral bone resection in patients with primary or metastatic femoral tumours is individually challenging. Especially when the remaining distal or proximal bone is very short, a rigid fixation of an implant is difficult to achieve due to the reverse funnel shape of the metaphysis. Herein, we present a novel implant design using a spreading mechanism in the distal part of the prosthesis for rigid, uncemented fixation in the remaining femoral bone after extensive tumour resection of the femur. We present the outcome of 5 female patients who underwent implantation of this spreading stem after extensive proximal or distal femoral bone resection. There was no radiological or clinical loosening or implant-related revision surgery in our follow-up (mean 21.46 months, range 3.5–46 months). This uncemented spreading stem may therefore represent an alternative option for fixation of a prosthetic device in the remaining metaphyseal femur. PMID:27293377

  4. On problems in defining abstract and metaphysical concepts--emergence of a new model.

    PubMed

    Nahod, Bruno; Nahod, Perina Vukša

    2014-12-01

    Basic anthropological terminology is the first project covering terms from the domain of the social sciences under the Croatian Special Field Terminology program (Struna). Problems that have been sporadically noticed or whose existence could have been presumed during the processing of terms mainly from technical fields and sciences have finally emerged in "anthropology". The principles of the General Theory of Terminology (GTT), which are followed in Struna, were put to a truly exacting test, and sometimes stretched beyond their limits when applied to concepts that do not necessarily have references in the physical world; namely, abstract and metaphysical concepts. We are currently developing a new terminographical model based on Idealized Cognitive Models (ICM), which will hopefully ensure a better cross-filed implementation of various types of concepts and their relations. The goal of this paper is to introduce the theoretical bases of our model. Additionally, we will present a pilot study of the series of experiments in which we are trying to investigate the nature of conceptual categorization in special languages and its proposed difference form categorization in general language.

  5. Terrorists: analogies and differences with mental diseases. A phenomenological-metaphysical perspective.

    PubMed

    Fisogni, Primavera

    2010-01-01

    Are islamic terrorists insane? International scholars generally concede that Al Qaeda members are not mentally ill. But, until now, there has not been a shared consensus and a strong argument that can prove it. This paper intends to throw light on the specific dehumanization of terrorists and to show that they are always responsible for their acts, unlike those who are affected by mental diseases. The members of Al Qaeda deny the world of life and take the distance from its sense and value: in their perspective only subversive action makes sense. However they always maintain a transcendent relation with the world (I-you; I-it). Persons with serious mental diseases have generally lost the sense of their self and the transcendence with the world. Terrorists and people with mental illness share a common separation from the world of life: one is voluntary, the other is the consequence of a number of factors (biological, social, etc.). Terrorists and psychotics have nevertheless something in common: the deprivation of the self. A loss of being that--I argue--is at the origin of the ordinariness of terrorists and the experience of void in psychotics. Two symptoms that reveal the condition of an intimate dryness, from a phenomenological and a metaphysical point of view as a consequence of a distorted relation with the world of life. I shall discuss how ordinariness is strictly related with the blurring definition of terrorism.

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

    NASA Astrophysics Data System (ADS)

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

    2012-01-01

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

  7. Rumford and the Reflection of Radiant Cold: Historical Reflections and Metaphysical Reflexes

    NASA Astrophysics Data System (ADS)

    Chang, Hasok

    2002-05-01

    In this paper I examine the debate regarding the positive reality of cold: whether it is merely an absence of heat, or a quality or entity in its own right. Marc-Auguste Pictet stimulated this debate by showing that radiation from a cold object apparently could be focused by concave mirrors to cool another object some distance away from it. Pictet and other believers in material theories of heat, most notably Pierre Prevost, sought to understand this phenomenon as a result of the radiation of caloric in a peculiar arrangement. By contrast, Count Rumford saw in Pictet's experiment a genuine action of "frigorific rays," and performed striking new experiments to support his view. For Rumford heat and cold radiation consisted in sound-like undulations in the ether, a mechanism compatible with his own vibration theory of heat, and discordant with the caloric theory. Rumford's strong arguments were overruled only because of the general dominance of the caloric theory of heat. However, Rumford did push the caloric theory to develop in a direction that eventually led to its downfall. I revisit this debate without preconceived notions of the metaphysical nature of cold and heat.

  8. Ultrasound in the Diagnostics of Metaphyseal Forearm Fractures in Children: A Systematic Review and Cost Calculation.

    PubMed

    Katzer, Christoph; Wasem, Jürgen; Eckert, Kolja; Ackermann, Ole; Buchberger, Barbara

    2016-06-01

    Metaphyseal forearm fractures are a common occurrence in childhood accounting up to 20% of all pediatric fractures. The standard diagnostic procedure is an x-ray scan. Sonographic examinations could be an alternative that avoids exposition to ionizing radiation and possibly reduces pain, time, and costs. This is a systematic review of clinical studies evaluating ultrasound as a possible alternative to radiographs in diagnosing metaphyseal forearm fractures in children. A systematic literature research for diagnostic studies and reviews was conducted in EMBASE, MEDLINE, and the Cochrane Library in May 2013 and updated in May 2014. In addition, reference lists of publications included were scanned. Outcome parameters were diagnostic accuracy, costs, examination time, and the assessment of pain. The study population is defined as children, because forearm fractures are very common in this age group and the impact of radiation on younger patients is greater than that on adults. Methodological quality of the studies has been assessed with Quality Assessment of Diagnostic Accuracy Studies-2. In addition, we carried out a cost center accounting. Eight diagnostic studies and 2 reviews were included in the analysis. The risk of bias of 4 studies was low; and of the other 4 ones, it was moderate. Critical aspects were missing or inaccurate blinding and insufficient descriptions of the study protocol, especially the order of examinations.Twenty-six to 115 patients within the age of 0 to 21 years were included in the studies. Sensitivity ranged from 64% to 100% and specificity did between 73% and 100%. Sensitivity was in six studies and specificity was in seven studies higher than 90%.Chaar-Alvarez et al reported an average time reduction of 25 minutes by using sonography instead of x-ray and a reduction of pain from 1.7 to 1.2 points on a visual analog scale (0-5 points). In 2 other studies, all patients reported pain-free sonographic examinations. The results of the cost

  9. The Possibility of a New Metaphysics for Quantum Mechanics from Meinong's Theory of Objects

    NASA Astrophysics Data System (ADS)

    Graffigna, Matías

    According to de Ronde it was Bohr's interpretation of Quantum Mechanics (QM) which closed the possibility of understanding physical reality beyond the realm of the actual, so establishing the Orthodox Line of Research. In this sense, it is not the task of any physical theory to look beyond the language and metaphysics supposed by classical physics, in order to account for what QM describes. If one wishes to maintain a realist position (though not nave) regarding physical theories, one seems then to be trapped by an array of concepts that do not allow to understand the main principles involved in the most successful physical theory thus far, mainly: the quantum postulate, the principle of indetermination and the superposition principle. If de Ronde is right in proposing QM can only be completed as a physical theory by the introduction of `new concepts' that admit as real a domain beyond actuality, then a new ontology that goes beyond Aristotelian and Newtonian actualism is needed. It was already in the early 20th century that misunderstood philosopher Alexius von Meinong proposed a Theory of Objects that admits a domain of being beyond existence-actuality. Member of the so called `School of Brentano', Meinong's concerns were oriented to provide an ontology of everything that can be thought of, and at the same time an intentionality theory of how objects are thought of. I wish to argue that in Meinong's theory of objects we find the rudiments of the ontology and the intentionality theory we need to account for QM's basic principles: mainly the possibility of predicating properties of non-entities, or in other words, the possibility of objectively describing a domain of what is, that is different from the domain of actual existence.

  10. An infant with cartilage-hair hypoplasia due to a novel homozygous mutation in the promoter region of the RMRP gene associated with chondrodysplasia and severe immunodeficiency.

    PubMed

    Vatanavicharn, N; Visitsunthorn, N; Pho-iam, T; Jirapongsananuruk, O; Pacharn, P; Chokephaibulkit, K; Limwongse, C; Wasant, P

    2010-01-01

    Cartilage-hair hypoplasia (CHH) is a rare autosomal-recessive disorder characterized by short-limbed dwarfism, sparse hair, and immune deficiency. It is caused by mutations in the RMRP gene, which encodes the RNA component of the mitochondrial RNA-processing ribonuclease (RNase MRP). Several mutations have been identified in its promoter region or transcribed sequence. However, homozygous mutations in the promoter region have been only reported in a patient with primary immunodeficiency without other features of CHH. We report on a Thai girl who first presented with chronic diarrhea, recurrent pneumonia, and severe failure to thrive, without apparently disproportionate dwarfism. The diagnosis of CHH was made after the severe wasting was corrected, and disproportionate growth became noticeable. The patient had the typical features of CHH, including sparse hair and metaphyseal abnormalities. The immunologic profiles were consistent with combined immune deficiency. Mutation analysis identified a novel homozygous mutation, g.-19_-25 dupACTACTC, in the promoter region of the RMRP gene. Identification of the mutation enabled us to provide a prenatal diagnosis in the subsequent pregnancy. This patient is the first CHH case with the characteristic features due to the homozygous mutation in the promoter region of the RMRP gene. The finding of severe immunodeficiency supports that promoter mutations markedly disrupt mRNA cleavage function, which causes cell-cycle impairment.

  11. Radiologic bone remodeling pattern around DCPD-coated, metaphyseal-loading cementless short stems in elderly patients.

    PubMed

    Oh, Kwang-Jun; Mishra, Amit; Yang, Jae-Hyuk

    2014-07-01

    Concerns exist regarding using short stems during total hip arthroplasties performed in elderly patients. For this study, the authors assessed sequential bone remodeling findings in metaphyseal-loading short stems using serial radiography. A total of 100 consecutive primary THAs using short stems were performed in patients with an average age of 78.3 years. The presence and patterns of radiolucent lines, radiopaque lines, calcar rounding, proximal bone resorption, spot welds, cortical hypertrophy, and intramedullary bone formation around the distal tip were assessed. The final study group comprised 92 hips, and mean follow-up was 60±3 months (range, 48-72 months). At final follow-up, condensations of spot welds were noted in 84 (91.3%) hips. Spot weld formation occurred in all zones except 1 and 4. Calcar rounding was observed in 90 (97.8%) hips. Atrophy of the calcar was noted in 19 (20.6%) hips. Analysis of the proximal zones revealed reactive radiodense lines in zones 1 and 2 (tensile area/shoulder of stem) in 22 (23.9%) hips. A prominent reactive line around the tip of the stem was recorded in 32 (34.8%) hips on radiographs at final follow-up. However, there was no increase in space between the tip of the stem and the radiopaque line. No acetabular or femoral component migrated by more than 1 mm at final follow-up. No acetabular or femoral osteolysis was identified. The radiographic findings of metaphyseal-loading short stems in elderly patients suggest that 91.3% of implants were osseointegrated. No patient required stem revision. Metaphyseal-loading short stems in elderly patients provide continued fixation with adaptive bone remodeling. Copyright 2014, SLACK Incorporated.

  12. Shock wave therapy compared with intramedullary screw fixation for nonunion of proximal fifth metatarsal metaphyseal-diaphyseal fractures.

    PubMed

    Furia, John P; Juliano, Paul J; Wade, Allison M; Schaden, Wolfgang; Mittermayr, Rainer

    2010-04-01

    The current "gold standard" for treatment of chronic fracture nonunion in the metaphyseal-diaphyseal region of the fifth metatarsal is intramedullary screw fixation. Complications with this procedure, however, are not uncommon. Shock wave therapy can be an effective treatment for fracture nonunions. The purpose of this study was to evaluate the safety and efficacy of shock wave therapy as a treatment of these nonunions. Twenty-three patients with a fracture nonunion in the metaphyseal-diaphyseal region of the fifth metatarsal received high-energy shock wave therapy (2000 to 4000 shocks; energy flux density per pulse, 0.35 mJ/mm(2)), and twenty other patients with the same type of fracture nonunion were treated with intramedullary screw fixation. The numbers of fractures that were healed at three and six months after treatment in each group were determined, and treatment complications were recorded. Twenty of the twenty-three nonunions in the shock wave group and eighteen of the twenty nonunions in the screw fixation group were healed at three months after treatment. One of the three nonunions that had not healed by three months in the shock wave group was healed by six months. There was one complication in the shock wave group (post-treatment petechiae) and eleven complications in the screw-fixation group (one refracture, one case of cellulitis, and nine cases of symptomatic hardware). Both intramedullary screw fixation and shock wave therapy are effective treatments for fracture nonunion in the metaphyseal-diaphyseal region of the fifth metatarsal. Screw fixation is more often associated with complications that frequently result in additional surgery.

  13. Comparing return to sport activities after short metaphyseal femoral arthroplasty with resurfacing and big femoral head arthroplasties.

    PubMed

    Karampinas, Panagiotis K; Papadelis, Eustratios G; Vlamis, John A; Basiliadis, Hlias; Pneumaticos, Spiros G

    2017-07-01

    Young patients feel that maintaining sport activities after total hip arthroplasty constitutes an important part of their quality of life. The majority of hip surgeons allow patients to return to low-impact activities, but significant caution is advised to taking part in high-impact activities. The purpose of this study is to compare and evaluate the post-operative return to daily living habits and sport activities following short-metaphyseal hip and high functional total hip arthroplasties (resurfacing and big femoral head arthroplasties). In a study design, 48 patients (55 hips) were enrolled in three different comparative groups, one with the short-metaphyseal arthroplasties, a second with high functional resurfacing arthroplasties and a third of big femoral head arthroplasties. Each patient experienced a clinical examination and evaluated with Harris Hip Score, WOMAC, Sf-36, UCLA activity score, satisfaction VAS, anteroposterior and lateral X-rays of the hip and were followed in an outpatient setting for 2 years. Statistical analysis revealed no notable differences between the three groups regarding their demographic data however significant differences have been found between preoperative and postoperative clinical scores of each group. Also, we fail to reveal any significant differences when comparing data of all three groups at the final 2 years postoperative control regarding their clinical scores. The overall outcome of all three groups was similar, all the patients were satisfied and returned to previous level of sport activities. Short metaphyseal hip arthroplasties in young patients intending to return to previous and even high impact sport activities, similar to high functional resurfacing, big femoral head arthroplasties. Short stems with hard on hard bearing surfaces might become an alternative to standard stems and hip resurfacing.

  14. Arnold Chiari Malformation With Sponastrime (Spondylar and Nasal Changes, With Striations of the Metaphyses) Dysplasia: A Case Report.

    PubMed

    Jeong, Je Hoon; Lee, A Leum; Cho, Sung Yoon; Jin, Dong Kyu; Im, Soo-Bin

    2016-05-01

    SPOndylar and NAsal changes, with STRIations of the Metaphyses (SPONASTRIME) dysplasia (SD) is a dwarfing autosomal recessive syndrome, characterized by a variety of clinical and radiographic features, which form the basis for diagnosis. We describe the presentation of an Arnold Chiari malformation in a patient with a clinical diagnosis of SD. The malformation was successfully treated by decompression of the foramen magnum and elevation of the cerebellum, with complete resolution of pain.We report a rare case of Arnold Chiari malformation in a patient presenting with clinical and radiographic features strongly suggestive of SD and be successfully treated.

  15. Chance: from metaphysical principle to explanatory concept. The idea of uncertainty in a natural history of knowledge.

    PubMed

    Morizot, Baptiste

    2012-09-01

    The term "chance" has been given varied and different meanings in the history of occidental thought, carrying metaphysical connotations and controversial power. Despite the obscurity implied by this polysemy, this term is still frequently used without undergoing the conceptual clarifications that could locate its precise meaning and its original function in a theory. Here I propose a brief genealogical draft of this term and of its conceptual forms, from Aristotle to Darwin, to demonstrate the necessity of specifying what function it is fulfilling in each precise theoretical framework, in order not to be overwhelmed by the wide spectrum of the word.

  16. Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R.

    PubMed

    Savoldi, Gianfranco; Izzi, Claudia; Signorelli, Marino; Bondioni, Maria Pia; Romani, Chiara; Lanzi, Gaetana; Moratto, Daniele; Verdoni, Lucio; Pinotti, Moira; Prefumo, Federico; Superti-Furga, Andrea; Pilotta, Alba

    2013-10-01

    Wave-shaped ribs were detected at prenatal ultrasound in a 20(+1) week female fetus. At birth, skeletal radiographs showed marked hypomineralization and suggested hypophosphatasia. However, elevated blood calcium and alkaline phosphatase excluded hypophosphatasia and raised the possibility of Jansen metaphyseal dysplasia. Molecular analysis of the PTH/PTHrP receptor gene (PTH1R) showed heterozygosity for a previously undescribed transversion variant (c.1373T>A), which predicts p.Ile458Lys. In vitro evaluation of wild type and mutant PTH/PTHrP receptors supported the pathogenic role of the p.Ile458Lys substitution, and confirmed the diagnosis of Jansen metaphyseal dysplasia. This disorder may present prenatally with wavy ribs and in the newborn with hypomineralization, and may therefore be confused with hypophosphatasia. The mottled metaphyseal lesions typically associated with this disease appear only in childhood. Copyright © 2013 Wiley Periodicals, Inc.

  17. Molecular defects in the chondrodysplasias

    SciTech Connect

    Rimoin, D.L.

    1996-05-03

    There has been a recent explosion of knowledge concerning the biochemical and molecular defects in the skeletal dysplasia. Through both the candidate gene approach and positional cloning, specific gene defects that produce the skeletal dysplasia have been identified and may be classified into several general categories: (1) qualitative or quantitative abnormalities in the structural proteins of cartilage; (2) inborn errors of cartilage metabolism; (3) defects in local regulators of cartilage growth; and (4) systemic defects influencing cartilage development. 35 refs., 1 tab.

  18. Science Awareness and Science Literacy through the Basic Physics Course: Physics with a bit of Metaphysics?

    NASA Astrophysics Data System (ADS)

    Rusli, Aloysius

    2016-08-01

    Until the 1980s, it is well known and practiced in Indonesian Basic Physics courses, to present physics by its effective technicalities: The ideally elastic spring, the pulley and moving blocks, the thermodynamics of ideal engine models, theoretical electrostatics and electrodynamics with model capacitors and inductors, wave behavior and its various superpositions, and hopefully closed with a modern physics description. A different approach was then also experimented with, using the Hobson and Moore texts, stressing the alternative aim of fostering awareness, not just mastery, of science and the scientific method. This is hypothesized to be more in line with the changed attitude of the so-called Millenials cohort who are less attentive if not interested, and are more used to multi-tasking which suits their shorter span of attention. The upside is increased awareness of science and the scientific method. The downside is that they are getting less experience of the scientific method which intensely bases itself on critical observation, analytic thinking to set up conclusions or hypotheses, and checking consistency of the hypotheses with measured data. Another aspect is recognition that the human person encompasses both the reasoning capacity and the mental- spiritual-cultural capacity. This is considered essential, as the world grows even smaller due to increased communication capacity, causing strong interactions, nonlinear effects, and showing that value systems become more challenging and challenged due to physics / science and its cosmology, which is successfully based on the scientific method. So students should be made aware of the common basis of these two capacities: the assumptions, the reasoning capacity and the consistency assumption. This shows that the limits of science are their set of basic quantifiable assumptions, and the limits of the mental-spiritual-cultural aspects of life are their set of basic metaphysical (non-quantifiable) assumptions. The

  19. Evolution of the radiographic appearance of the metaphyses over the first year of life in type V osteogenesis imperfecta: clues to pathogenesis.

    PubMed

    Arundel, Paul; Offiah, Amaka; Bishop, Nicholas J

    2011-04-01

    We present the first report of the development of characteristic radiologic appearances of long bones during the first year of life in an infant with type V osteogenesis imperfecta (OI). We show the evolution of metaphyseal abnormalities from a rickets-like appearance to the classically described dense metaphyseal bands. These abnormalities suggest that the underlying defect in type V OI may involve a molecule common to both bone and cartilage that is involved in the regulation of growth plate development and metadiaphyseal ossification. Our findings provide new insights into skeletal development in type V OI and potentially yield useful clues to the identity of the defect underpinning the condition.

  20. Disruption of glucocorticoid signaling in chondrocytes delays metaphyseal fracture healing but does not affect normal cartilage and bone development

    PubMed Central

    Tu, Jinwen; Henneicke, Holger; Zhang, Yaqing; Stoner, Shihani; Cheng, Tegan L.; Schindeler, Aaron; Chen, Di; Tuckermann, Jan; Cooper, Mark S.; Seibel, Markus J.; Zhou, Hong

    2014-01-01

    States of glucocorticoid excess are associated with defects in chondrocyte function. Most prominently there is a reduction in linear growth but delayed healing of fractures that require endochondral ossification to also occur. In contrast, little is known about the role of endogenous glucocorticoids in chondrocyte function. As glucocorticoids exert their cellular actions through the glucocorticoid receptor (GR), we aimed to elucidate the role of endogenous glucocorticoids in chondrocyte function in vivo through characterization of tamoxifen-inducible chondrocyte-specific GR knockout (chGRKO) mice in which the GR was deleted at various post-natal ages. Knee joint architecture, cartilage structure, growth plates, intervertebral discs, long bone length and bone micro-architecture were similar in chGRKO and control mice at all ages. Analysis of fracture healing in chGRKO and control mice demonstrated that in metaphyseal fractures, chGRKO mice formed a larger cartilaginous callus at 1 and 2 week post-surgery, as well as a smaller amount of well-mineralized bony callus at the fracture site 4 week post-surgery, when compared to control mice. In contrast, chondrocyte-specific GR knockout did not affect diaphyseal fracture healing. We conclude that endogenous GC signaling in chondrocytes plays an important role during metaphyseal fracture healing but is not essential for normal long bone growth. PMID:25193158

  1. Serum levels of innate immunity cytokines are elevated in dogs with metaphyseal osteopathy (hypertrophic osteodytrophy) during active disease and remission.

    PubMed

    Safra, Noa; Hitchens, Peta L; Maverakis, Emanual; Mitra, Anupam; Korff, Courtney; Johnson, Eric; Kol, Amir; Bannasch, Michael J; Pedersen, Niels C; Bannasch, Danika L

    2016-10-15

    Metaphyseal osteopathy (MO) (hypertrophic osteodystrophy) is a developmental disorder of unexplained etiology affecting dogs during rapid growth. Affected dogs experience relapsing episodes of lytic/sclerotic metaphyseal lesions and systemic inflammation. MO is rare in the general dog population; however, some breeds (Weimaraner, Great Dane and Irish Setter) have a much higher incidence, supporting a hereditary etiology. Autoinflammatory childhood disorders of parallel presentation such as chronic recurrent multifocal osteomyelitis (CRMO), and deficiency of interleukin-1 receptor antagonist (DIRA), involve impaired innate immunity pathways and aberrant cytokine production. Given the similarities between these diseases, we hypothesize that MO is an autoinflammatory disease mediated by cytokines involved in innate immunity. To characterize immune dysregulation in MO dogs we measured serum levels of inflammatory markers in 26 MO and 102 control dogs. MO dogs had significantly higher levels (pg/ml) of serum Interleukin-1beta (IL-1β), IL-18, IL-6, Granulocyte-macrophage colony stimulating factor (GM-CSF), C-X-C motif chemokine 10 (CXCL10), tumor necrosis factor (TNF), and IL-10. Notably, recovered MO dogs were not different from dogs during active MO disease, providing a suggestive mechanism for disease predisposition. This is the first documentation of elevated immune markers in MO dogs, uncovering an immune profile similar to comparable autoinflammatory disorders in children. Copyright © 2016 Elsevier B.V. All rights reserved.

  2. Serum levels of innate immunity cytokines are elevated in dogs with metaphyseal osteopathy (hypertrophic osteodytrophy) during active disease and remission

    PubMed Central

    Safra, Noa; Hitchens, Peta L.; Maverakis, Emanual; Mitra, Anupam; Korff, Courtney; Johnson, Eric; Kol, Amir; Bannasch, Michael J.; Pedersen, Niels C.; Bannasch, Danika L.

    2017-01-01

    Metaphyseal osteopathy (MO) (hypertrophic osteodystrophy) is a developmental disorder of unexplained etiology affecting dogs during rapid growth. Affected dogs experience relapsing episodes of lytic/sclerotic metaphyseal lesions and systemic inflammation. MO is rare in the general dog population; however, some breeds (Weimaraner, Great Dane and Irish Setter) have a much higher incidence, supporting a hereditary etiology. Autoinflammatory childhood disorders of parallel presentation such as chronic recurrent multi-focal osteomyelitis (CRMO), and deficiency of interleukin-1 receptor antagonist (DIRA), involve impaired innate immunity pathways and aberrant cytokine production. Given the similarities between these diseases, we hypothesize that MO is an autoinflammatory disease mediated by cytokines involved in innate immunity. To characterize immune dysregulation in MO dogs we measured serum levels of inflammatory markers in 26 MO and 102 control dogs. MO dogs had significantly higher levels (pg/ml) of serum Interleukin-1beta (IL-1β), IL-18, IL-6, Granulocyte-macrophage colony stimulating factor (GM-CSF), C-X-C motif chemokine 10 (CXCL10), tumor necrosis factor (TNF), and IL-10. Notably, recovered MO dogs were not different from dogs during active MO disease, providing a suggestive mechanism for disease predisposition. This is the first documentation of elevated immune markers in MO dogs, uncovering an immune profile similar to comparable autoinflammatory disorders in children. PMID:27590423

  3. Growth arrest of the distal radius following a metaphyseal fracture: case report and review of the literature.

    PubMed

    Tang, Chris W; Kay, Robert M; Skaggs, David L

    2002-01-01

    We report a 12-year-old girl who developed growth arrest of the distal radius physis 9 months after sustaining a complete fracture of the distal radial and ulnar metaphysis with no involvement of the physis evident at time of injury. The girl sustained a fracture of the metaphysis of her right distal radius and ulna after a fall. Anterior-posterior, lateral and oblique radiographs at injury, and during subsequent healing show no evidence of the fracture involving the physis. She was treated with closed reduction and casting for 6 weeks and healed uneventfully. She returned 4 month later concerned about distal ulnar prominence. Radiographs revealed a loss of radial tilt and with suspicion of a physeal bar. Magnetic resonance imaging confirmed a physeal bar located in the dorsal radial region. A literature search of the Medline database was used to obtain prior case reports for review purpose. The patient underwent an epiphysiodesis of the distal radius and ulna along with an opening wedge osteotomy and bone grafting of the distal radius to restore radial height and inclination. She healed without complication and with restoration of the normal relationship of the distal radius and ulna. A review of the literature reveals five reported case of distal radial metaphyseal fractures not invloving the physis leading to growth arrest. By comparison, there are 31 reported cases of distal radius physeal arrest following fractures involving the physis. The physician should be aware that common distal radius metaphyseal fractures may rarely lead to growth arrest.

  4. Book Review: Time and the metaphysics of relativity. William Lane Craig, Kluwer Academic Publisher, Dordrecht, 2000, 292pp. US 92, ISBN 0-792-36668-9

    NASA Astrophysics Data System (ADS)

    Dorato, Mauro

    In a recent book on " Time and the Metaphysics of Relativity", William Lane Craig uses the concept of time to try to reconstruct strong conceptual links between theology, metaphysics and physics, three vertices of a triangle that until the 17th century have been much less separated than they are today. According to Craig, the task of the philosopher of time is not just to use the prestige of contemporary physical theories to support certain metaphysical views (the A versus the B theory), or, more questionably, certain views of God (his timelessness versus his omni temporality). He also claims that one should be guided by certain a priori theological and metaphysical hypotheses in order to interpret and even evaluate physical theories. In this respect, the main aim of the book is to rehabilitate a neo-lorentzian interpretation of relativity and to show its connection with cosmic time, which Craig questionably regards as a direct measure of God's, tensed, A-theoretical Time. Not by chance, the present volume is part of a remarkable tetralogy, the other three dealing with God, Time and Eternity, The Tensed Theory of Time and The Tenseless Theory of Time.

  5. The locked Grosse-Kempf intramedullary nail in the treatment of diaphyseal and metaphyseal fractures of the femur and tibia.

    PubMed

    Costa, P; Carretti, P; Giancecchi, F; Pignedoli, P; Rotini, R; Tartaglia, I

    1988-12-01

    The Gross-Kempf locked intramedullary nail widens the indications for the traditional Küntscher nail in the treatment of diaphyseal and metaphyseal fractures of the lower limbs. The study includes 87 patients with a total of 93 closed fractures treated between 1981 and 1987. Osteosynthesis was carried out in 85 closed fractures and in 8 Grade 1 or 2 open fractures. Possible assemblies in relation to the level and type of fracture and the protocol for weightbearing are illustrated, with emphasis on the fact that dynamization of static assemblies is not always essential. The high percentage of positive results (86%) and the relatively small incidence of complications confirm the validity of this method. The only drawback is the fairly high dose of radiation absorbed by the surgeon during the operation.

  6. [Prolonged states of virtual recovery after atypical pubertal schizophrenic episodes with over-valuation disorders of the "metaphysical intoxication" type].

    PubMed

    Bil'zho, A G

    1986-01-01

    Using clinical and follow-up methods of investigation the authors studied a number of patients with juvenile slowly progressive schizophrenia in whom the disease picture in youth was characterized by over-worship disturbances of the "metaphysical intoxication" type which were attended by marked social and occupational disadaptation. A group of patients (n = 25) was identified with a state of practical cure after youth. Three most characteristic patterns of personality changes in these patients were described. The dominant role in their structure was played by manifestations of delay of mental maturation and the syndrome of psychic juvenilism of a dissociated nature. A certain relationship was found between the level and nature of the patients' occupational adaptation and the type of their personality changes. The question is discussed about the determination of the disease stage in such cases. The authors consider them as recovery states with some personality changes which can be ascribed to residual schizophrenia.

  7. [Epilepsy from a metaphysical perspective: an interpretation of the biblical story of the epileptic boy and Raphael's Transfiguration].

    PubMed

    Janz, D

    1994-01-01

    Raphael's last painting reveals, in the upper half of the picture, Christ's transfiguration on Mount Tabor and, in the lower half, the young boy's epileptic seizure at the foot of the mountain in the presence of the other disciples. Raphael depicts both events, which are told in succession in the Gospels, as if they took place at the same time. By synchronizing both scenes, Raphael demonstrated a significant correspondence between Christ and the epileptic boy which reveals the epileptic seizure as a symbolic representation of a transcendental event. This metaphysical aspect of epilepsy depicted by Raphael can also be found in the corresponding biblical passages. In the Gospels, the metamorphosis caused by the epileptic seizure is used as a simile for Christ's transfiguration through suffering, death and resurrection.

  8. Epilepsy, viewed metaphysically: an interpretation of the biblical story of the epileptic boy and of Raphael's transfiguration.

    PubMed

    Janz, D

    1986-01-01

    Raphael's last painting reveals, in the upper half of the picture, Christ's transfiguration on Mount Tabor and, in the lower half, the young boy's epileptic seizure at the foot of the mountain in the presence of the other disciples. Raphael depicts both events, which are told in succession in the Gospels, as if they took place at the same time. By synchronizing both scenes Raphael demonstrated a significant correspondence between Christ and the epileptic boy, which reveals the epileptic seizure as a symbolic representation of a transcendent event. This metaphysical aspect of epilepsy depicted by Raphael can also be found in the corresponding biblical passages. In the Gospels, the metamorphosis caused by the epileptic seizure is used as a simile for Christ's transfiguration through suffering, death, and resurrection.

  9. Percutaneous Kirschner Wire fixation in distal radius metaphyseal fractures in children: does it change the overall outcome?

    PubMed Central

    Ozcan, M; Memisoglu, S; Copuroglu, C; Saridogan, K

    2010-01-01

    Background and Objectives: The aim of this study was to determine the effect of Kirschner wire fixation after closed reduction of radial metaphyseal fractures with high risk of redisplacement. Patients and Methods: In this retrospective study 40 cases were studied in two groups. In group 1 (n=20, average age 11.2 years), K-wire fixation was performed after closed reduction. In group 2 (n=20 average age 10.1 years), only plaster immobilization was applied following closed reduction. The compared clinical and radiological parameters were, pain, limb deformitiy, range of motion of the wrist, angulation of the fracture site, radial distal epipihyseal angle and severity of translation. Results:Redisplacement rate was 10% in group 1 and 50% in group 2. This shows, Kirschner wire fixation has a positive effect in the maintanence of the initial reduction (p<0.05). Age, gender, reduction quality had no effect on redisplacement (p>0.05). Concerning the severity of translation, the risk of redisplacement increases in stage 3 (50%- 100%) and stage 4 (>100%) fractures (p<0,05). Concomitant complete ulnar fracture has also redisplacement risk (p<0.05). Redisplacement risk increases when the distance of fracture line to epiphyseal line was between 11-20 mm (p<0.05). There was no significiant difference between two groups after last evaluation based on radiological parameters and clinical results (p>0.05). Conclusions:This study shows that Kirschner wire fixation prevents redisplacement in early follow-up of first three weeks but there is no superiority after 20 months follow-up in distal metaphyseal fractures of children. PMID:21311635

  10. High-density physical mapping of a 3-Mb region in Xp22.3 and refined localization of the gene for X-linked recessive chondrodysplasia punctata (CDPX1)

    SciTech Connect

    Wang, I.; Levilliers, J.; Petit, C.

    1995-03-20

    The study of patients with chromosomal rearrangements has led to the mapping of the gene responsible for X-linked recessive chondrodysplasia punctata (CDPX1; MIM 302950) to the distal part of the Xp22.3 region, between the loci PABX and DXS31. To refine this mapping, a yeast artificial chromosome (YAC) contig map spanning this region has been constructed. Together with the YAC contig of the pseudo-autosomal region that we previously established, this map covers the terminal 6 Mb of Xp, with an average density of 1 probe every 100 kb. Newly isolated probes that detect segmental X-Y homologies on Yp and Yq suggest multiple complex rearrangements of the ancestral pseudoautosomal region during evolution. Compilation of the data obtained from the study of individuals carrying various Xp22.3 deletions led us to conclude that the CDPX disease displays incomplete penetrance and, consequently, to refine the localization of CDPX1 to a 600-kb interval immediately adjacent to the pseudoautosomal boundary. This interval, in which 12 probes are ordered, provides the starting point for the isolation of CDPX1. 67 refs., 3 figs., 2 tabs.

  11. Germline mosaicism is a pitfall in PGD for X-linked disorders. Single sperm typing detects very low frequency paternal gonadal mosaicism in a case of recurrent chondrodysplasia punctata misattributed to a maternal origin.

    PubMed

    Viart, Victoria; Willems, Marjolaine; Ishmukhametova, Aliya; Dufernez, Fabienne; Anahory, Tal; Hamamah, Samir; Schmitt, Sébastien; Claustres, Mireille; Girardet, Anne

    2017-02-01

    This manuscript presents a molecularly demonstrated gonadal mosaicism from paternal origin for X-linked dominant chondrodysplasia punctata by single sperm typing. A couple who had experienced two medical terminations of pregnancy of female fetuses was referred to our pre-implantation genetic diagnosis (PGD) centre with the diagnosis of maternally derived gonadal mosaicism. Indeed, genetic analyses of different DNA samples - including semen - from the healthy parents failed to detect the variant found in the fetuses. Six embryos, all male, were obtained during the PGD cycle. The causative variant was not detected in any embryo, whereas five embryos had inherited the 'at-risk' maternal haplotype. The assumption of a maternal gonadal mosaicism was still possible, but this finding allowed us to consider the possibility of a paternal rather than maternal gonadal mosaicism. It prompted us to perform extensive single sperm analyses, demonstrating a low-frequency paternal germline mosaicism, which led to completely different haplotype phasing and PGD counselling. In conclusion, this case further exemplifies that germline mosaicism is a pitfall in PGD where diagnosis largely relies on linkage analysis and suggests that tracing the parental inheritance through polar body analysis and/or single sperm typing experiments is of major importance for adequate genetic counselling and accurate PGD. © 2016 John Wiley & Sons, Ltd. © 2016 John Wiley & Sons, Ltd.

  12. Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.

    PubMed

    Cañueto, J; Girós, M; Ciria, S; Pi-Castán, G; Artigas, M; García-Dorado, J; García-Patos, V; Virós, A; Vendrell, T; Torrelo, A; Hernández-Martín, A; Martín-Hernández, E; Garcia-Silva, M T; Fernández-Burriel, M; Rosell, J; Tejedor, M; Martínez, F; Valero, J; García, J L; Sánchez-Tapia, E M; Unamuno, P; González-Sarmiento, R

    2012-04-01

    Conradi-Hünermann-Happle syndrome (CDPX2, OMIM 302960) is an inherited X-linked dominant variant of chondrodysplasia punctata which primarily affects the skin, bones and eyes. CDPX2 results from mutations in EBP (emopamil binding protein), and presents with increased levels of sterol precursors 8(9)-cholesterol and 8-dehydrocholesterol. To expand the understanding of CDPX2, clinically, biochemically and genetically. We present one of the largest series reported to date, including 13 female patients belonging to nine Spanish families. Patients were studied biochemically using gas chromatography-mass spectrometry, genetically using polymerase chain reaction and in their methylation status using the HUMARA assay. In our cases, there was a clear relationship between abnormal sterol profile and the EBP gene mutation. We describe three novel mutations in the EBP gene. EBP mutations were inherited in three out of nine families and were sporadic in the remaining cases. No clear genotype-phenotype correlation was found. Patients' biochemical profiles did not reveal a relationship between sterol profiles and severity of disease. A skewed X-chromosome inactivation may explain the clinical phenotype in CDPX2 in some familial cases. © 2011 The Authors. BJD © 2011 British Association of Dermatologists.

  13. ARQ 087 inhibits FGFR signaling and rescues aberrant cell proliferation and differentiation in experimental models of craniosynostoses and chondrodysplasias caused by activating mutations in FGFR1, FGFR2 and FGFR3.

    PubMed

    Balek, Lukas; Gudernova, Iva; Vesela, Iva; Hampl, Marek; Oralova, Veronika; Kunova Bosakova, Michaela; Varecha, Miroslav; Nemec, Pavel; Hall, Terence; Abbadessa, Giovanni; Hatch, Nan; Buchtova, Marcela; Krejci, Pavel

    2017-08-18

    Tyrosine kinase inhibitors are being developed for therapy of malignancies caused by oncogenic FGFR signaling but little is known about their effect in congenital chondrodysplasias or craniosynostoses that associate with activating FGFR mutations. Here, we investigated the effects of novel FGFR inhibitor, ARQ 087, in experimental models of aberrant FGFR3 signaling in cartilage. In cultured chondrocytes, ARQ 087 efficiently rescued all major effects of pathological FGFR3 activation, i.e. inhibition of chondrocyte proliferation, loss of extracellular matrix and induction of premature senescence. In ex vivo tibia organ cultures, ARQ 087 restored normal growth plate architecture and eliminated the suppressing FGFR3 effect on chondrocyte hypertrophic differentiation, suggesting that it targets the FGFR3 pathway specifically, i.e. without interference with other pro-growth pathways. Moreover, ARQ 087 inhibited activity of FGFR1 and FGFR2 mutants associated with Pfeiffer, Apert and Beare-Stevenson craniosynostoses, and rescued FGFR-driven excessive osteogenic differentiation in mouse mesenchymal micromass cultures or in ex vivo calvarial organ cultures. Our data warrant further development of ARQ 087 for clinical use in skeletal disorders caused by activating FGFR mutations. Copyright © 2017 Elsevier Inc. All rights reserved.

  14. From collagen chemistry towards cell therapy – a personal journey

    PubMed Central

    Grant, Michael E

    2007-01-01

    The Fell–Muir Award requires the recipient to deliver a lecture and a review manuscript which provides a personal overview of significant scientific developments in the field of matrix biology over the period of the recipient's career. In this context, this review considers the collagen family of structural proteins and the advances in biochemical, molecular biological and genetic techniques which led to the elucidation of the structure, synthesis and function of this important group of extracellular matrix constituents. Particular attention is focussed on early research on the identification and assembly of the soluble precursors of collagen types I and II, and the identification of the precursor of basement membrane collagen type IV. In subsequent studies investigating the maintenance of the chick chondrocyte phenotype in culture, the influence of the extracellular milieu was found to influence markedly both cell morphology and collagen gene expression. These studies led to the discovery of collagen type X whose expression is restricted to hypertrophic chondrocytes at sites of endochondral ossification. Such research provided a prelude to investigations of mammalian endochondral ossification which is known to be aberrant in a variety of human chondrodysplasias and is reactivated in bone fracture repair and in osteoarthritis. The cloning of bovine and then human collagen type X genes facilitated studies in relevant human diseases and contributed to the discovery of mutations in the COL10A1 gene in families with metaphyseal chondrodysplasia type Schmid. Clustering of mutations in the C-terminal domain of the type X collagen molecule has now been widely documented and investigations of the pathogenic mechanisms in animal models are beginning to suggest the prospect of novel treatment strategies. PMID:17696900

  15. Tibial revision knee arthroplasty with metaphyseal sleeves: The effect of stems on implant fixation and bone flexibility

    PubMed Central

    Nadorf, Jan; Kinkel, Stefan; Gantz, Simone; Jakubowitz, Eike; Kretzer, J. Philippe

    2017-01-01

    Introduction Revision total knee arthoplasty often requires modular implants to treat bone defects of varying severity. In some cases, it may not be clear which module size and implant combination (e.g. sleeve and stem) should be chosen for a specific defect. When balancing implant stability and osseointegration against stress-shielding, it is important to choose an appropriate implant combination in order to match the given level of bone loss. Therefore, the necessity of stems in less extensive tibial defects and the advantage of different stems (lengths and stiffnesses) in combination with large metaphyseal sleeves on implant fixation and bone flexibility using a modular tibial revision knee system, were analyzed. Materials and methods Four different stem combinations for a tibial revision implant (Sigma TC3, DePuy) were compared to an intact bone. Standardized implantation with n = 4 synthetic tibial bones was performed after generating an Anderson Orthopaedic Research Institute (AORI) Type T1 bone defect. Axial torques around the longitudinal stem axis and varus-valgus torques were separately applied to the implant. Micromotions of bone and implant were tracked using a digital image correlation system to calculate relative micromotions at the implant-bone-interface and bone deformation. Results Overall, using stems reduced the proximal micromotions of tray and sleeve compared to no stem, while reducing bone deformation proximally at the same time, indicating some potential for proximal stress-shielding compared to no stem. The potential for increased proximal stress-shield due to reduced proximal deformation appeared to be greater when using the longer stems. The location of lowest relative micromotions was also more distal when using long stems as opposed to short stems. A short stem (especially a smaller diameter short stem which still achieves diaphyseal fixation) displayed less potential for stress-shielding, but greater bone deformation distal to the tip

  16. Chondrodiatasis in a patient with spondyloepimetaphyseal dysplasia using the Ilizarov technique: successful correction of an angular deformity with ensuing ossification of a large metaphyseal lesion. A case report.

    PubMed

    Valdivia, G G; Fassier, F; Hamdy, R C

    1998-01-01

    Distraction through the physis (chondrodiatasis) is a controversial technique with unpredictable results. However, it has been used in the past for the lengthening and correction of angular deformities of long bones. We report the case of an 11-year-old patient with spondyloepimetaphyseal dysplasia (SEMD) who presented with a severe recurvatum deformity of the left proximal tibia secondary to collapse of the tibial plateau into a large metaphyseal cystic lesion. Using the chondrodiatasis technique with a percutaneously applied Ilizarov circular frame, we were able to correct this deformity. Surprisingly, healing and ossification of the metaphyseal lesion was simultaneously observed at the end of the treatment, a finding which, to the best of our knowledge, has not been previously reported.

  17. The effects of prostaglandin E2 in growing rats - Increased metaphyseal hard tissue and cortico-endosteal bone formation

    NASA Technical Reports Server (NTRS)

    Jee, W. S. S.; Ueno, K.; Deng, Y. P.; Woodbury, D. M.

    1985-01-01

    The role of in vivo prostaglandin E2 (PGE2) in bone formation is investigated. Twenty-five male Sprague-Dawley rats weighing between 223-267 g were injected subcutaneously with 0.3, 1.0, 3.0, and 6.0 mg of PGE2-kg daily for 21 days. The processing of the tibiae for observation is described. Radiographs and histomorphometric analyses are also utilized to study bone formation. Body weight, weights of soft tissues and bones morphometry are evaluated. It is observed that PGE2 depressed longitudinal bone growth, increased growth cartilage thickness, decreased degenerative cartilage cell size and cartilage cell production, and significantly increased proximal tibial metaphyseal hard tissue mass. The data reveal that periosteal bone formation is slowed down at higher doses of PGE2 and endosteal bone formation is slightly depressed less than 10 days post injection; however, here is a late increase (10 days after post injection) in endosteal bone formation and in the formation of trabecular bone in the marrow cavity of the tibial shaft. It is noted that the effects of PGE2 on bone formation are similar to the responses of weaning rats to PGE2.

  18. The metaphysics of D-CTCs: On the underlying assumptions of Deutsch's quantum solution to the paradoxes of time travel

    NASA Astrophysics Data System (ADS)

    Dunlap, Lucas

    2016-11-01

    I argue that Deutsch's model for the behavior of systems traveling around closed timelike curves (CTCs) relies implicitly on a substantive metaphysical assumption. Deutsch is employing a version of quantum theory with a significantly supplemented ontology of parallel existent worlds, which differ in kind from the many worlds of the Everett interpretation. Standard Everett does not support the existence of multiple identical copies of the world, which the D-CTC model requires. This has been obscured because he often refers to the branching structure of Everett as a "multiverse", and describes quantum interference by reference to parallel interacting definite worlds. But he admits that this is only an approximation to Everett. The D-CTC model, however, relies crucially on the existence of a multiverse of parallel interacting worlds. Since his model is supplemented by structures that go significantly beyond quantum theory, and play an ineliminable role in its predictions and explanations, it does not represent a quantum solution to the paradoxes of time travel.

  19. Micro-computed tomography assisted distal femur metaphyseal blunt punch compression for determining trabecular bone strength in mice.

    PubMed

    Sankar, Uma; Pritchard, Zachary J; Voor, Michael J

    2016-05-03

    Shorter generation time and the power of genetic manipulation make mice an ideal model system to study bone biology as well as bone diseases. However their small size presents a challenge to perform strength measurements, particularly of the weight-bearing cancellous bone in the murine long bones. We recently developed an improved method to measure the axial compressive strength of the cancellous bone in the distal femur metaphysis in mice. Transverse micro-computed tomography image slices that are 7µm thick were used to locate the position where the epiphysis-metaphysis transition occurs. This enabled the removal of the distal femur epiphysis at the exact transition point exposing the full extent of metaphyseal trabecular bone, allowing more accurate and consistent measurement of its strength. When applied to a murine model system consisting of five month old male wild-type (WT) and Ca(2+)/calmodulin dependent protein kinase kinase 2 (CaMKK2) knockout (KO) Camkk2(-/-) mice that possess recorded differences in trabecular bone volume, data collected using this method showed good correlation between bone volume fraction and strength of trabecular bone. In combination with micro-computed tomography and histology, this method will provide a comprehensive and consistent assessment of the microarchitecture and tissue strength of the cancellous bone in murine mouse models.

  20. Beyond the metaphysical: health-promoting existential mechanisms and their impact on the health status of clients.

    PubMed

    Whitehead, Dean

    2003-09-01

    This paper aims to conceptualize the issues that surround the notion of existential health. It also seeks to establish the impact that existential issues have upon the health of the individual client and how these might explicitly be applied in clinical practice settings. The ability of clients to draw upon their own existential resources as a fundamental part of their health care experience often goes unrecognized in nursing. Whilst existential mechanisms may be theoretically recognized, as a valid aspect of an individual's unique and personal identity, they are not an established part of the health care activity of nurses. Entrenched biomedical frameworks of care delivery and the interchangeable use of metaphysical health states with existential health states in the established literature present particular dilemmas for the acknowledgement of existential health in clients. A review of the literature has been conducted. This account argues that the failure to recognize and assess a client's existential health status represents a major omission on the part of the clinical nurse. These nurses are, in effect, denying their clients the right to exercise and mobilize an important and valuable health resource.

  1. Development and validation of new model for microvascular transplantation of epiphyseal plate allografts with minimal adjoining epiphyseal and metaphyseal bone.

    PubMed

    Bray, Peter W; Neligan, Peter C; Bowen, C Vaughan A; Danska, Jayne S; Boyer, Martin I

    2003-01-01

    A model for the free allograft microvascular transplantation of rabbit proximal tibial epiphyseal plate allografts was developed, validated, and tested in an in vivo animal model. Transplants contained the minimum amount of adjacent epiphyseal and metaphyseal bone compatible with preservation of the epiphyseal-plate vascular supply, as determined by corrosion casting. Perfusion to this graft was evaluated quantitatively using radioactive microspheres, and qualitatively using India-ink injection. Female New Zealand White rabbits at 12 weeks of age were utilized. Vascularized transplantation of epiphyseal plate allografts was performed either into a defect of matched size in the iliac crest or into a soft-tissue pocket without bone contact. Cyclosporine A immunosuppression (CSA) was administered daily for 6 weeks. Two control groups underwent identical surgical procedures, but had no postoperative immunosuppression. Epiphyseal plates both with and without bone contact, in rabbits immunosuppressed postoperatively with CSA, demonstrated longitudinal growth and preserved viability as determined by positive bromodeoxyuridine uptake. Control epiphyseal plates transferred without postoperative immunosuppression were uniformly nonviable. This new model has value as a basis for further studies into the clinical applicability of isolated epiphyseal-plate transplants.

  2. Increased intracellular proteolysis reduces disease severity in an ER stress-associated dwarfism.

    PubMed

    Mullan, Lorna A; Mularczyk, Ewa J; Kung, Louise H; Forouhan, Mitra; Wragg, Jordan Ma; Goodacre, Royston; Bateman, John F; Swanton, Eileithyia; Briggs, Michael D; Boot-Handford, Raymond P

    2017-09-18

    The short-limbed dwarfism metaphyseal chondrodysplasia type Schmid (MCDS) is linked to mutations in type X collagen, which increase ER stress by inducing misfolding of the mutant protein and subsequently disrupting hypertrophic chondrocyte differentiation. Here, we show that carbamazepine (CBZ), an autophagy-stimulating drug that is clinically approved for the treatment of seizures and bipolar disease, reduced the ER stress induced by 4 different MCDS-causing mutant forms of collagen X in human cell culture. Depending on the nature of the mutation, CBZ application stimulated proteolysis of misfolded collagen X by either autophagy or proteasomal degradation, thereby reducing intracellular accumulation of mutant collagen. In MCDS mice expressing the Col10a1.pN617K mutation, CBZ reduced the MCDS-associated expansion of the growth plate hypertrophic zone, attenuated enhanced expression of ER stress markers such as Bip and Atf4, increased bone growth, and reduced skeletal dysplasia. CBZ produced these beneficial effects by reducing the MCDS-associated abnormalities in hypertrophic chondrocyte differentiation. Stimulation of intracellular proteolysis using CBZ treatment may therefore be a clinically viable way of treating the ER stress-associated dwarfism MCDS.

  3. Does metaphyseal cement augmentation in fracture management influence the adjacent subchondral bone and joint cartilage?: an in vivo study in sheep stifle joints.

    PubMed

    Goetzen, Michael; Hofmann-Fliri, Ladina; Arens, Daniel; Zeiter, Stephan; Stadelmann, Vincent; Nehrbass, Dirk; Richards, R Geoff; Blauth, Michael

    2015-01-01

    Augmentation of implants with polymethylmethacrylate (PMMA) bone cement in osteoporotic fractures is a promising approach to increase implant purchase. Side effects of PMMA for the metaphyseal bone, particularly for the adjacent subchondral bone plate and joint cartilage, have not yet been studied. The following experimental study investigates whether subchondral PMMA injection compromises the homeostasis of the subchondral bone and/or the joint cartilage.Ten mature sheep were used to simulate subchondral PMMA injection. Follow-ups of 2 (4 animals) and 4 (6 animals) months were chosen to investigate possible cartilage damage and subchondral plate alterations in the knee. Evaluation was completed by means of high-resolution peripheral quantitative computed tomography (HRpQCT) imaging, histopathological osteoarthritis scoring, and determination of glycosaminoglycan content in the joint cartilage. Results were compared with the untreated contralateral knee and statistically analyzed using nonparametric tests.Evaluation of the histological osteoarthritis score revealed no obvious cartilage damage for the treated knee; median histological score after 2 months 0 (range 4), after 4 months 1 (range 5). There was no significant difference when compared with the untreated control site after 2 and 4 months (P = 0.23 and 0.76, respectively). HRpQCT imaging showed no damage to the metaphyseal trabeculae. Glycosaminoglycan measurements of the treated joint cartilage after 4 months revealed no significant difference compared with the untreated cartilage (P = 0.24).The findings of this study support initial clinical observation that PMMA implant augmentation of metaphyseal fractures appears to be a safe procedure for fixation without harming the subchondral bone plate and adjacent joint cartilage.

  4. Comparison of manual rasping and robotic milling for short metaphyseal-fitting stem implantation in total hip arthroplasty: a cadaveric study.

    PubMed

    Lim, Seung-Jae; Kim, Sang-Min; Lim, Byung-Ho; Moon, Young-Wan; Park, Youn-Soo

    2013-01-01

    The ROBODOC system offers the theoretical advantage of providing better fit and mechanical stability of the stem in total hip arthroplasty. However, there has been no previous study on short metaphyseal-fitting stem implantation using the ROBODOC system. The aim of the present study was to compare the implant position and primary stability of short metaphyseal-fitting stems implanted by robotic milling and manual rasping in a human cadaveric femoral model. Eight matched pairs of human cadaveric femora were randomly assigned to a robotic milling group or manual rasping group. Operative time and intraoperative femoral fractures were monitored, and radiographic evaluation of stem alignment was performed by comparison of preoperative planning and postoperative CT data. Stability testing was performed on six matched pairs of femora, excluding two specimens in which intraoperative fractures occurred. The robotic milling procedures took an average of 27 minutes longer than the manual rasping procedures (p < 0.001). The robotic milling group exhibited significantly better anteroposterior alignment and vertical seating, and also showed a significantly reduced variability in both alignment and vertical seating. No intraoperative femoral fracture was detected in the robotic milling group, whereas two femoral fractures and one femoral stem tip perforation were detected in the manual rasping group. Stability testing showed no significant difference in translational and rotational migrations between the two groups, although the robotic milling group showed a trend towards reduced variability of stability. Our cadaveric study suggests that the use of the ROBODOC system for short metaphyseal-fitting stem implantation may have advantages in improving implant fit and reducing the risk of intraoperative femoral fractures without compromising primary stability.

  5. Synergistic Effects of Genistein and Zinc on Bone Metabolism and the Femoral Metaphyseal Histomorphology in the Ovariectomized Rats.

    PubMed

    Qi, Shanshan

    2017-08-25

    In this study, we evaluated the synergistic effects of genistein and zinc on bone metabolism, bone mineral density, and the femoral metaphyseal histomorphology in the ovariectomized rats. Sixty female Sprague-Dawley rats, aged 13 weeks, were divided into sham-operated group (SHAM), ovariectomized group (OVX), genistein-treated group (OVX-Gen), zinc-treated group (OVX-Zn), genistein combined zinc-treated group (OVX-Gen-Zn), and 17β-estradiol-treated group (OVX-E) (n = 10). Genistein, zinc, and 17β-estradiol injections were started immediately after OVX and continued for 10 weeks. The OVX-Gen group was subcutaneous injections of genistein (5 mg/kg once every day). The OVX-Zn group was given intragastric ZnSO4 (0.25 mg/kg once every day) after bilateral ovariectomy. The OVX-Gen-Zn group was subcutaneous injections of genistein (5 mg/kg), at the same time intragastric ZnSO4 (0.25 mg/kg once every day). OVX-E group were intraperitoneally injected with 17β-estradiol (10 μg/kg) once every other day. The results showed that genistein and zinc did not alter body weight in OVX rats. The soluble ZnSO4 had no effect to uterus weight loss. Genistein and zinc supplementation significantly increased the BMD of the femur and lumbar spine in OVX rats (P < 0.05, vs. OVX control group). The BMD of the lumbar spine and femur in the OVX-Gen-Zn group is higher than that in the OVX-Gen and OVX-Zn groups (P < 0.05), and there were no differences of BMD among the OVX-Gen-Zn, OVX-E, and SHAM groups (P > 0.05). The femoral metaphyseal morphology and bone histomorphometric parameters revealed that the trabecular volume and thickness in the OVX-Gen-Zn and OVX-E groups were similar to that of SHAM group, and the OVX-Gen-Zn group had more trabecular volume than the OVX-Gen and OVX-Zn groups. Serum zinc was found to be significantly reduced in the OVX group when compared with SHAM. Serum zinc levels were enhanced in the OVX-Zn, OVX-Gen-Zn, and OVX-E groups and restored to

  6. Genetics Home Reference: rhizomelic chondrodysplasia punctata

    MedlinePlus

    ... are also important for the production of fats (lipids) used in digestion and in the nervous system. ... genes play roles in the formation (synthesis) of lipid molecules called plasmalogens. Plasmalogens are found in cell ...

  7. Metaphyseal locking plate as a definitive external fixator for treating open tibial fractures--clinical outcome and a finite element study.

    PubMed

    Ma, Ching-Hou; Wu, Chin-Hsien; Tu, Yuan-Kun; Lin, Ting-Sheng

    2013-08-01

    We evaluated both the outcome of using a locking plate as a definitive external fixator for treating open tibial fractures and, using finite element analysis, the biomechanical performance of external and internal metaphyseal locked plates in treating proximal tibial fractures. Eight open tibial patients were treated using a metaphyseal locked plate as a low-profile definitive external fixator. Then, finite element models of internal (IPF) as well as two different external plate fixations (EPFs) for proximal tibial fractures were reconstructed. The offset distances from the bone surface to the EPFs were 6 cm and 10 cm. Both axial stiffness and angular stiffness were calculated to evaluate the biomechanical performance of these three models. The mean follow-up period was 31 months (range, 18-43 months). All the fractures united and the mean bone healing time was 37.5 weeks (range, 20-52 weeks). All patients had excellent or good functional results and were walking freely at the final follow-up. The finite element finding revealed that axial stiffness and angular stiffness decreased as the offset distance from the bone surface increased. Compared to the IPF models, in the two EPF models, axial stiffness decreased by 84-94%, whereas the angular stiffness decreased by 12-21%. The locking plate used as a definitive external fixator provided a high rate of union. While the locking plate is not totally rigid, it is clinically stable and may be advisable for stiffness reduction of plating constructs, thus promoting fracture healing by callus formation. Our patients experienced a comfortable clinical course, excellent knee and ankle joint motion, satisfactory functional results and an acceptable complication rate.

  8. Effects of macroporous, strontium loaded xerogel-scaffolds on new bone formation in critical-size metaphyseal fracture defects in ovariectomized rats.

    PubMed

    Ray, Seemun; Thormann, Ulrich; Sommer, Ursula; Khassawna, Thaqif El; Hundgeburth, Marvin; Henß, Anja; Rohnke, Marcus; Lips, Katrin S; Heiss, Christian; Heinemann, Sascha; Hanke, Thomas; Dürselen, Lutz; Schnettler, Reinhard; Alt, Volker

    2016-01-01

    New bone formation was studied in a metaphyseal fracture-defect in ovariectomized rats stimulated by a plain and a strontium-enriched macroporous silica/collagen scaffold (ScB30 and ScB30Sr20) and a compact silica/collagen xerogel (B30). 45 female Sprague-Dawley rats were randomly assigned to three different treatment groups: (1) ScB30 (n=15), (2) ScB30Sr20 (n=15), and (3) B30 (n=15). 12 weeks after bilateral ovariectomy and multi-deficient diet, a 4 mm wedge-shaped fracture-defect was created at the metaphyseal area of the left femur. A 7-hole T-shaped plate at the lateral aspect of the femur stabilized the bone and the defect was filled with ScB30, ScB30Sr20 or B30 subsequently. After six weeks, histomorphometrical analysis revealed a statistically significant higher bone volume/tissue volume ratio in the ScB30Sr20 group compared to ScB30 (p=0.043) and B30 (p=0.0001) indicating an improved formation of new bone by the strontium-enriched macroporous silica/collagen scaffold. Furthermore, immunohistochemical results showed increased expression of BMP2 and OPG and a decreased RANKL expression in the ScB30Sr20 group. This was further confirmed with the gene expression analysis where an increase in prominent bone formation markers (ALP, OCN, Runx2, Col1a1 and Col10a1) was seen. No material remnants were found in the scaffold group indicating an almost complete degradation process of the biomaterials. This is confirmed by ToF-SIMS analysis that did not detect any strontium in the ScB30Sr20 group neither in the defect nor in the surrounding tissue. Taken together, this study shows the stimulating effects of strontium through increased bone formation by up regulation of osteoanabolic markers. This work also indicates the importance of material porosity, geometry and biodegradability in bone healing. Copyright © 2016 Elsevier Ltd. All rights reserved.

  9. Cementless metaphyseal fitting anatomic total hip arthroplasty with a ceramic-on-ceramic bearing in patients thirty years of age or younger.

    PubMed

    Kim, Young-Hoo; Park, Jang-Won; Kim, Jun-Shik

    2012-09-05

    The number of midterm or long-term studies on the current generation of cementless total hip replacements with alumina-on-alumina ceramic bearings in patients younger than thirty years of age is limited. The purpose of this study was to evaluate the midterm results of the cementless metaphyseal fitting anatomic total hip prosthesis in patients younger than thirty years of age, with a particular emphasis on the prevalence of thigh pain, resorption of bone due to stress-shielding of the proximal part of the femur, aseptic loosening, and osteolysis. We reviewed the cases of ninety-six patients (127 hips) who had a cementless total hip arthroplasty when they were thirty years or younger at the time of surgery. All surgical procedures were performed by a single surgeon. The most common diagnoses were osteonecrosis (54.3%) and developmental dysplasia of the hip (20.5%). Demographic data, the Harris hip score, Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC), and University of California, Los Angeles (UCLA) activity scores were recorded. Radiographic evaluation was used to evaluate implant fixation and osteolysis. The minimum follow-up interval was ten years (mean, 14.6 years; range, ten to sixteen years). The mean preoperative Harris hip score, WOMAC score, and UCLA activity score were 41 points, 66 points, and 3 points, respectively. At the time of final follow-up, the mean Harris hip score, WOMAC score, and UCLA activity score were 95 points, 16 points, and 8 points, respectively. No patient had thigh pain after one year postoperatively. All of the femoral stems and all but one of the acetabular components were well-fixed at the time of final follow-up. No hip exhibited squeaking, ceramic fracture, loosening, or osteolysis at the time of the final follow-up. These results in patients thirty years of age or younger suggest that the cementless metaphyseal fitting anatomic total hip prosthesis provides outstanding midterm fixation and substantial

  10. [Early diagnosis, variety of outcomes and prognosis of juvenile schizophrenia with over-value disorders of the "metaphysical intoxication" type onset (results of a late follow-up study)].

    PubMed

    Tsutsul'kovskaia, M Ia; Izvol'skiĭ, S A; Bol'zho, A G; Kopeĭko, G I

    1986-01-01

    On the basis of follow-up findings about juvenile schizophrenia first expressed in superworship manifestations according to the type of metaphysical intoxication (98 observations), the authors established that most frequently these cases were characterized by a torpid course of the disease in the framework of slowly progressing juvenile schizophrenia. There was a high rate of favourable outcomes at the level of "clinical recovery" (in 42.5%). Favourable prognostic signs were as follows: the complete nature of the clinical picture of the syndrome, its similarity to pubertal crisis manifestations, the absence in its structure of other positive disturbances and a number of specific features of the premorbid picture. The authors determined the pattern of correlation between the typological characteristics of the state of juvenile metaphysical intoxication and the outcome of the disease, peculiarities of manifestations of this phenomenon at the initial stage of psychotic forms of juvenile schizophrenia, as well as distinctive features of superworship formations according to the type of juvenile metaphysical intoxication observed in the framework of pubertal decompensation in schizoid psychopathies.

  11. From the "metaphysics of the individual" to the critique of society: on the practical significance of Michel Henry's phenomenology of life.

    PubMed

    Staudigl, Michael

    This essay explores the practical significance of Michel Henry's "material phenomenology." Commencing with an exposition of his most basic philosophical intuition, i.e., his insight that transcendental affectivity is the primordial mode of revelation of our selfhood, the essay then brings to light how this intuition also establishes our relation to both the world and others. Animated by a radical form of the phenomenological reduction, Henry's material phenomenology brackets the exterior world in a bid to reach the concrete interior transcendental experience at the base of all exteriority. The essay argues that this "counter reduction," designed as a practical orientation to the world, suspends all traditional parameters of onto(theo)logical individuation in order to rethink subjectivity in terms of its transcendental corporeality, i.e., in terms of the invisible display of "affective flesh." The development of this "metaphysics of the individual" anchors his "practical philosophy" as he developed it-under shifting accents-throughout his oeuvre. In particular, the essay brings into focus Henry's reflections on modernity, the industry of mass culture and their "barbaric" movements. The essay briefly puts these cultural and political areas of Henry's of thinking into contact with his late "theological turn," i.e., his Christological account of Life and the (inter)subjective self-realization to which it gives rise.

  12. A biomechanical comparison of unilateral and bilateral String-of-Pearls™ locking plates in a canine distal humeral metaphyseal gap model.

    PubMed

    Hurt, R J; Syrcle, J A; Elder, S; McLaughlin, R

    2014-01-01

    To compare the in vitro biomechanical performance of two String-of-Pearls (SOP) plate constructs in a canine distal humeral metaphyseal gap model. Seven pairs of canine cadaveric humeri, including the elbow joints, were prepared. One group consisted of a unilateral medially placed SOP plate with bicortical screws (UNI). The second group consisted of bilateral caudo-medial and caudo-lateral SOP plates applied with monocortical screws (BI). A 2 cm ostectomy was performed immediately proximal to the supratrochlear foramen. Constructs were tested in torsion and axial compression. The UNI constructs had significantly lower stiffness in torsion and axial compression than the BI group. However, UNI constructs had a significantly higher ultimate strength than BI constructs. All UNI constructs failed by bending of the transcondylar screw and SOP plate. All BI constructs failed by axial pullout of the distal most screws. In stabilizing canine supracondylar humeral fractures as modeled here, both the UNI model and the BI model demonstrated biomechanical advantages. The incorporation of a transcondylar screw through the medial plate appears to be beneficial to construct strength.

  13. The skeletal effects of colony-stimulating factor-1 in toothless (osteopetrotic) rats: persistent metaphyseal sclerosis and the failure to restore subepiphyseal osteoclasts.

    PubMed

    Marks, S C; Mackay, C A; Jackson, M E; Larson, E K; Cielinski, M J; Stanley, E R; Aukerman, S L

    1993-01-01

    Toothless (tl), one of four osteopetrotic mutations in the rat, is characterized by few osteoclasts, undetectable bone resorption, and failure of correction by bone marrow transplantation. We recently reported that CSF-1 treatment improves these skeletal problems but that metaphyseal sclerosis persists. In the present study we demonstrate that optimal reduction of the skeletal sclerosis in tl rats following CSF-1 treatment has lower and upper dosage thresholds and that skeletal sclerosis returns after CSF-1 withdrawal. Osteoclasts increase significantly in tl rats after CSF-1 treatment, but compared to untreated normal littermates, histochemical staining for characteristic enzymes and osteoclast number is reduced and no osteoclasts appear in the subepiphyseal areas of long bones. These data are interpreted to mean that there are dosage limits to the beneficial skeletal effects of CSF-1, that persistent sclerosis is related to the failure to restore subepiphyseal osteoclasts, that osteoclast or progenitor populations may be deficient or differ in their responses to CSF-1, and that the defect in tl rats is not merely lack of a circulating, biologically active form of CSF-1.

  14. Effects of Long-Term Daily Administration of Prostaglandin-E2 on Maintaining Elevated Proximal Tibial Metaphyseal Cancellous Bone Mass in Male Rats

    NASA Technical Reports Server (NTRS)

    Ke, Hua Zhu; Jee, Webster S. S.; Mori, Satoshi; Li, Xiao Jian; Kimmel, Donald B.

    1992-01-01

    The effects of long-term prostaglandin E(sub 2) (PGE(sub 2)) on cancellous bone in proximal tibial metaphysis were studied in 7 month old male Sprague-Dawley rats given daily subcutaneous injections of 0, 1, 3, and 6 mg PGE(sub 2)/kg/day and sacrificed after 60, 120, and 180 days. Histomorphometric analyses were performed on double fluorescent-labeled undecalcified bone specimens. After 60 days of treatment, PGE(sub 2) produced diffusely labeled trabecular bone area, increased trabecular bone area, eroded and labeled trabecular perimeter, mineral apposition rate, and bone formation rate at all dose levels when compared with age-matched controls. In rats given PGE(sub 2) for longer time periods (120 and 180 days), trabecular bone area, diffusely labeled trabecular bone area, labeled perimeter, mineral apposition, and bone formation rates were sustained at the elevated levels achieved earlier at 60-day treatment. The eroded perimeter continued to increase until 120 days, then plateau. The observation that continuous systemic PGE(sub 2) administration to adult male rats elevated metaphyseal cancellous bone mass to 3.5-fold of the control level within 60 days and maintained it for another 120 days indicates that the powerful skeletal anabolic effects of PGE2 can be sustained with continuous administration .

  15. Absolute becoming, relational becoming and the arrow of time: Some non-conventional remarks on the relationship between physics and metaphysics

    NASA Astrophysics Data System (ADS)

    Dorato, Mauro

    The literature on the compatibility between the time of our experience-characterized by passage or becoming-and time as is represented within spacetime theories has been affected by a persistent failure to get a clear grasp of the notion of becoming, both in its relation to an ontology of events "spread" in a four-dimensional manifold, and in relation to temporally asymmetric physical processes. In the first part of my paper I try to remedy this situation by offering what I consider a clear and faithful explication of becoming, valid independently of the particular spacetime setting in which we operate. Along the way, I will show why the metaphysical debate between the so-called "presentists" and "eternalists" is completely irrelevant to the question of becoming, as the debate itself is generated by a failure to distinguish between a tensed and a tenseless sense of "existence". After a much needed distinction between absolute and relational becoming, I then show in what sense classical (non-quantum) spacetime physics presupposes both types of becoming, for the simple reason that spacetime physics presupposes an ontology of (timelike-separated) events. As a consequence, not only does it turn out that using physics to try to provide empirical evidence for the existence of becoming amounts to putting the cart before the horses, but also that the order imposed by "the arrow of becoming" is more fundamental than any other physical arrow of time, despite the fact that becoming cannot be used to explain why entropy grows, or retarded electromagnetic radiation prevails versus advanced radiation.

  16. Porous tantalum metaphyseal cones for severe tibial bone loss in revision knee arthroplasty: a five to nine-year follow-up.

    PubMed

    Kamath, Atul F; Lewallen, David G; Hanssen, Arlen D

    2015-02-04

    Severe metaphyseal and meta-diaphyseal bone loss poses important challenges in revision total knee arthroplasty. The best strategy for addressing massive tibial bone loss has not been determined. The purpose of this study was to assess the intermediate-term clinical and radiographic results of porous tibial cone implantation. Sixty-six porous tantalum tibial cones (sixty-three patients) were reviewed at a mean follow-up time of seventy months (range, sixty to 106 months). According to the Anderson Orthopaedic Research Institute bone defect classification, twenty-four knees had a Type-3 defect, twenty-five knees had a Type-2B defect, and seventeen knees had a Type-2A defect. The mean age at the time of the index revision was sixty-seven years (range, forty-one to eighty-three years), and 57% of patients were female. The mean American Society of Anesthesiologists Physical Status was 2.4 (range, 2 to 3), and the mean body mass index was 33 kg/m(2) (range, 25 to 53 kg/m(2)). Fifteen patients (24%) were on immunosuppressant medications, and eight patients (13%) were current smokers. The patients underwent a mean number of 3.4 prior knee surgical procedures (range, one to twenty procedures), and 49% of patients (thirty-one patients) had a history of periprosthetic infection. The mean Knee Society Scores improved significantly from 55 points preoperatively (range, 4 to 97 points) to 80 points (range, 28 to 100 points) at the time of the latest follow-up (p < 0.0001). One patient had progressive radiolucencies about the tibial stem and cone on radiographs. One patient had complete radiolucencies about the tibial cone, concerning for fibrous ingrowth. Three other cones were revised: one for infection, one for aseptic loosening, and one for periprosthetic fracture. Revision-free survival of the tibial cone component was >95% at the time of the latest follow-up. Porous tantalum tibial cones offer a promising management option for severe tibial bone loss. At the intermediate

  17. Energy: Between Physics and Metaphysics

    NASA Astrophysics Data System (ADS)

    Bunge, Mario

    The general concept of energy is somewhat unclear as long as it is confined to physics, since every chapter of it defines its own particular concept of energy. The general concept can be elucidated in terms of the hypergeneral (philosophical) concepts of concrete thing and changeability. In this way one succeeds in crafting a minitheory that identifies energy with mutability, and that regards it, as well as its conservation, as a universal property of concrete things. The moral is that physicists and philosophers can learn from one another.

  18. Energy: Between Physics and Metaphysics.

    ERIC Educational Resources Information Center

    Bunge, Mario

    2000-01-01

    The general concept of energy is somewhat unclear as long as it is confined to physics since every chapter of it defines its own particular concept of energy. The general concept can be elucidated in terms of the hypergeneral concepts of concrete things and changeability. Concludes that physicists and philosophers can learn from one another.…

  19. Defining disability: metaphysical not political.

    PubMed

    Riddle, Christopher A

    2013-08-01

    Recent discussions surrounding the conceptualising of disability has resulted in a stalemate between British sociologists and philosophers. The stagnation of theorizing that has occurred threatens not only academic pursuits and the advancement of theoretical interpretations within the Disability Studies community, but also how we educate and advocate politically, legally, and socially. More pointedly, many activists and theorists in the UK appear to believe the British social model is the only effective means of understanding and advocating on behalf of people with disabilities. This model, largely reliant upon materialist research traditions, contends that disability is a form of social oppression and hence, is a phenomenon that should be conceptualised in social terms. Individual properties such as impairments are disregarded as they are viewed to be unimportant in the analysis of the social causes of disability. Concurrently, many bioethicists and philosophers have embraced what Tom Shakespeare has classified as an 'Interactional Approach' to disability--that "the experience of a disabled person results from the relationship between factors intrinsic to the individual, and the extrinsic factors arising from the wider context in which she finds herself". I intend to demonstrate that the benefits of the British social model are now outweighed by its burdens. I suggest, as Jerome Bickenbach has, that while it may be somewhat churlish to critique the social model in light of its political success, taken literally, it implies that people with disabilities require no additional health resources by virtue of their impairments. Despite the eloquent arguments that have preceded me by interactional theorists, none have been accepted as evidence of fallacious reasoning by British social model theorists. This article is an attempt to clarify why it is that the types of arguments British social model theorists have been offering are misguided. I suggest that the British social model, unlike an interactional approach, is unable to provide a realistic account of the experience of disability, and subsequently, unable to be properly utilized to ensure justice for people with disabilities.

  20. Energy: Between Physics and Metaphysics.

    ERIC Educational Resources Information Center

    Bunge, Mario

    2000-01-01

    The general concept of energy is somewhat unclear as long as it is confined to physics since every chapter of it defines its own particular concept of energy. The general concept can be elucidated in terms of the hypergeneral concepts of concrete things and changeability. Concludes that physicists and philosophers can learn from one another.…

  1. Histomorphometric Assessment of Cancellous and Cortical Bone Material Distribution in the Proximal Humerus of Normal and Osteoporotic Individuals: Significantly Reduced Bone Stock in the Metaphyseal and Subcapital Regions of Osteoporotic Individuals.

    PubMed

    Sprecher, Christoph M; Schmidutz, Florian; Helfen, Tobias; Richards, R Geoff; Blauth, Michael; Milz, Stefan

    2015-12-01

    Osteoporosis is a systemic disorder predominantly affecting postmenopausal women but also men at an advanced age. Both genders may suffer from low-energy fractures of, for example, the proximal humerus when reduction of the bone stock or/and quality has occurred.The aim of the current study was to compare the amount of bone in typical fracture zones of the proximal humerus in osteoporotic and non-osteoporotic individuals.The amount of bone in the proximal humerus was determined histomorphometrically in frontal plane sections. The donor bones were allocated to normal and osteoporotic groups using the T-score from distal radius DXA measurements of the same extremities. The T-score evaluation was done according to WHO criteria. Regional thickness of the subchondral plate and the metaphyseal cortical bone were measured using interactive image analysis.At all measured locations the amount of cancellous bone was significantly lower in individuals from the osteoporotic group compared to the non-osteoporotic one. The osteoporotic group showed more significant differences between regions of the same bone than the non-osteoporotic group. In both groups the subchondral cancellous bone and the subchondral plate were least affected by bone loss. In contrast, the medial metaphyseal region in the osteoporotic group exhibited higher bone loss in comparison to the lateral side.This observation may explain prevailing fracture patterns, which frequently involve compression fractures and certainly has an influence on the stability of implants placed in this medial region. It should be considered when planning the anchoring of osteosynthesis materials in osteoporotic patients with fractures of the proximal humerus.

  2. High incidence of periprosthetic joint infection with propionibacterium acnes after the use of a stemless shoulder prosthesis with metaphyseal screw fixation - a retrospective cohort study of 241 patients propionibacter infections after eclipse TSA.

    PubMed

    Johansson, Lisa; Hailer, Nils P; Rahme, Hans

    2017-05-19

    A stemless shoulder prosthesis with humeral metaphyseal screw fixation was introduced in order to save bone-stock and to facilitate reconstruction of biomechanics (Eclipse®). The aim of this study was to analyze whether the risk of infection is different with this implant compared to conventional shoulder prosthesis. Two hundred and forty-one patients (54.8% females) were operated with a shoulder arthroplasty and followed for median 2.0 (0.1-5.7) years. One hundred and two (42.3%) had received an Eclipse® prosthesis, the remaining patients were operated with other implants. There was an overrepresentation of males in the Eclipse® group (63.7% males) when compared with the control group (31.7% males). In the Eclipse® group 10 (9.8%) patients developed a periprosthetic joint infection, as opposed to 1 (0.7%) in the control group. The most common bacteria was Propionibacterium acnes. Unadjusted infection-free survival after 4 years was 88.8% (CI 82.5-95.7) for Eclipse® patients and 95.7% (CI 87.7-100.0) for controls (p = 0.002). After adjustment for age, gender, diagnosis, and type of shoulder prosthesis (total or hemi), the risk ratio for revision due to infection was 4.3 (CI 0.5-39.1) for patients with the Eclipse® prosthesis. Deep infections seem to be more common after the use of the metaphyseally fixed Eclipse® prosthesis than after conventional shoulder implants, but a predominance of male gender and younger age in the Eclipse group may have biased our findings. Future studies on larger cohorts and in vitro investigations on bacterial adherence and biofilm formation are needed. The study was conducted in accordance with the Helsinki Declaration. The local ethics board (Regionala Etikprövningsnämnden Stockholm) approved the study (Approval number 2015/1590-31, date of issue 2015-10-14). Retrospectively registered.

  3. Transphyseal osseous bridges in experimental osteonecrosis of the femoral head of the rat. Histologic study of the bony bridges connecting the epiphyseal with the metaphyseal bony trabeculae through gaps in the physeal cartilage.

    PubMed

    Peskin, B; Shupak, A; Misselevich, I; Zinman, C; Levin, D; Jacob, Z; Reis, D N; Boss, J H

    2001-07-01

    In view of the lifelong persistence of the physis, the femoral head of rats may serve to model Perthes disease and slipped capital femoral epiphysis. To produce osteonecrosis, the blood supply of one femoral head of 133, 6-month-old animals was severed by circumferentially incising the periosteum of the neck and cutting the ligamentum teres. The rats were killed 7 days to 90 days postoperatively. Associated with resorption of the necrotic bone and marrow, remodeling of the epiphysis was characterized by an ingrowth of vascularized fibrous tissue, formation of new bone and some cartilage, architectural deformation and flattening of the head. In 22 of 83 rats killed 30 days or more postoperatively, gaps in the continuity of the physeal cartilage were occupied by osseous bridges, connecting newly formed epiphyseal bony trabeculae with either the preexisting or newly formed metaphyseal osseous trabeculae. This healing mode may follow ischemic death of physeal chondrocytes or be owing to another mechanism, e.g., release of mediatory substances of inflammation. These findings raise the possibility that fixation of the healing epiphysis of a child's previously necrotic femoral head to the metaphysis occurs by transphyseal osseous growth in cases in which the physis is involved in the necrotic process.

  4. 75 FR 55334 - Schmid Laboratories, Inc. et al.; Withdrawal of Approval of Five New Drug Applications

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-09-10

    ... applications have repeatedly failed to file required annual reports for the applications. DATES: Effective... drugs for human use are required to submit annual reports to FDA concerning each of their approved... withdraw approval of five NDAs because the firms had failed to submit the required annual reports for...

  5. The suitability of an uncemented hydroxyapatite coated (HAC) hip hemiarthroplasty stem for intra-capsular femoral neck fractures in osteoporotic elderly patients: the Metaphyseal-Diaphyseal Index, a solution to preventing intra-operative periprosthetic fracture.

    PubMed

    Chana, Rishi; Mansouri, Reza; Jack, Chris; Edwards, Max R; Singh, Ravi; Keller, Carmel; Khan, Farid

    2011-11-18

    This study will seek to identify a measurable radiographic index, the Metaphyseal-Diaphyseal Index (MDI) score to determine whether intra-operative fracture in osteoporotic bone can be predicted.A 5 year prospective cohort of 560 consecutive patients, undergoing hemiarthroplasty (cemented or uncemented), was evaluated. A nested case-control study to determine risk factors affecting intra-operative fracture was carried out. The Vancouver Classification was used to classify periprosthetic fracture. The MDI score was calculated using radiographs from the uncemented group. As a control (gold standard), Yeung et al's Canal Bone Ratio (CBR) score was also calculated. From this, a receiver operating characteristic (ROC) curve was formulated for both scores and area under the curve (AUC) compared. Intra and inter-observer correlations were determined. Cost analysis was also worked out for adverse outcomes. Four hundred and seven uncemented and one hundred and fifty-three cemented stems were implanted. The use of uncemented implants was the main risk factor for intra-operative periprosthetic fracture. Sixty-two periprosthetic fractures occurred in the uncemented group (15.2%), nine occurred in the cemented group (5.9%), P < 0.001. The revision rate for sustaining a periprosthetic fracture (uncemented group) was 17.7%, P < 0.001 and 90 day mortality 19.7%, P < 0.03. MDI's AUC was 0.985 compared to CBR's 0.948, P < 0.001. The MDI score cut-off to predict fracture was 21, sensitivity 98.3%, specificity 99.8%, positive predictive value 90.5% and negative predictive value 98%. Multivariate regression analysis ruled out any other confounding factors as being significant. The intra and inter-observer Pearson correlation scores were r = 0.99, P < 0.001. JRI uncemented hemiarthroplasty has a significantly higher intra-operative fracture rate. We recommend cemented arthroplasty for hip fractures. We propose a radiographic system that may allow surgeons to select patients who are good

  6. The suitability of an uncemented hydroxyapatite coated (HAC) hip hemiarthroplasty stem for intra-capsular femoral neck fractures in osteoporotic elderly patients: the Metaphyseal-Diaphyseal index, a solution to preventing intra-operative periprosthetic fracture

    PubMed Central

    2011-01-01

    This study will seek to identify a measurable radiographic index, the Metaphyseal-Diaphyseal Index (MDI) score to determine whether intra-operative fracture in osteoporotic bone can be predicted. A 5 year prospective cohort of 560 consecutive patients, undergoing hemiarthroplasty (cemented or uncemented), was evaluated. A nested case-control study to determine risk factors affecting intra-operative fracture was carried out. The Vancouver Classification was used to classify periprosthetic fracture. The MDI score was calculated using radiographs from the uncemented group. As a control (gold standard), Yeung et al's Canal Bone Ratio (CBR) score was also calculated. From this, a receiver operating characteristic (ROC) curve was formulated for both scores and area under the curve (AUC) compared. Intra and inter-observer correlations were determined. Cost analysis was also worked out for adverse outcomes. Four hundred and seven uncemented and one hundred and fifty-three cemented stems were implanted. The use of uncemented implants was the main risk factor for intra-operative periprosthetic fracture. Sixty-two periprosthetic fractures occurred in the uncemented group (15.2%), nine occurred in the cemented group (5.9%), P < 0.001. The revision rate for sustaining a periprosthetic fracture (uncemented group) was 17.7%, P < 0.001 and 90 day mortality 19.7%, P < 0.03. MDI's AUC was 0.985 compared to CBR's 0.948, P < 0.001. The MDI score cut-off to predict fracture was 21, sensitivity 98.3%, specificity 99.8%, positive predictive value 90.5% and negative predictive value 98%. Multivariate regression analysis ruled out any other confounding factors as being significant. The intra and inter-observer Pearson correlation scores were r = 0.99, P < 0.001. JRI uncemented hemiarthroplasty has a significantly higher intra-operative fracture rate. We recommend cemented arthroplasty for hip fractures. We propose a radiographic system that may allow surgeons to select patients who are

  7. Metaphysics and Professional Resistance to Program Evaluation.

    ERIC Educational Resources Information Center

    Kilburg, Richard

    1980-01-01

    The philosophical and psychological foundations of the resistance evaluators encounter when attempting to implement evaluation efforts are explored. Problems in the evaluative paradigm are presented, and suggested coping strategies are discussed. (Author/GK)

  8. Measurement of Workload: Physics, Psychophysics, and Metaphysics

    NASA Technical Reports Server (NTRS)

    Gopher, D.

    1984-01-01

    The present paper reviews the results of two experiments in which workload analysis was conducted based upon performance measures, brain evoked potentials and magnitude estimations of subjective load. The three types of measures were jointly applied to the description of the behavior of subjects in a wide battery of experimental tasks. Data analysis shows both instances of association and dissociation between types of measures. A general conceptual framework and methodological guidelines are proposed to account for these findings.

  9. Ape metaphysics: object individuation without language.

    PubMed

    Mendes, Natacha; Rakoczy, Hannes; Call, Josep

    2008-02-01

    Developmental research suggests that whereas very young infants individuate objects purely on spatiotemporal grounds, from (at latest) around 1 year of age children are capable of individuating objects according to the kind they belong to and the properties they instantiate. As the latter ability has been found to correlate with language, some have speculated whether it might be essentially language dependent and therefore uniquely human. Existing studies with non-human primates seem to speak against this hypothesis, but fail to present conclusive evidence due to methodological shortcomings. In the present experiments we set out to test non-linguistic object individuation in three great ape species with a refined manual search methodology. Experiment 1 tested for spatiotemporal object individuation: Subjects saw 1 or 2 objects simultaneously being placed inside a box in which they could reach, and then in both conditions only found 1 object. After retrieval of the 1 object, subjects reached again significantly more often when they had seen 2 than when they had seen 1 object. Experiment 2 tested for object individuation according to property/kind information only: Subjects saw 1 object being placed inside the box, and then either found that object (expected) or an object of a different kind (unexpected). Analogously to Experiment 1, after retrieval of the 1 object, subjects reached again significantly more often in the unexpected than in the expected condition. These results thus confirm previous findings suggesting that individuating objects according to their property/kind is neither uniquely human nor essentially language dependent. It remains to be seen, however, whether this kind of object individuation requires sortal concepts as human linguistic thinkers use them, or whether some simpler form of tracking properties is sufficient.

  10. "Humanitas", Metaphysics and Modern Liberal Arts

    ERIC Educational Resources Information Center

    Tubbs, Nigel

    2014-01-01

    There is a new myth of the heterogeneous that is reducing the concept of humanity to a sinful enlightenment. In this article I investigate the contribution that a renewed understanding of liberal arts education might offer for the idea of a humanist education and for the concept of humanity; and this at a time when not only the concept of humanity…

  11. "Humanitas", Metaphysics and Modern Liberal Arts

    ERIC Educational Resources Information Center

    Tubbs, Nigel

    2014-01-01

    There is a new myth of the heterogeneous that is reducing the concept of humanity to a sinful enlightenment. In this article I investigate the contribution that a renewed understanding of liberal arts education might offer for the idea of a humanist education and for the concept of humanity; and this at a time when not only the concept of humanity…

  12. Infants' Metaphysics: The Case of Numerical Identity.

    ERIC Educational Resources Information Center

    Xu, Fei; Carey, Susan

    1996-01-01

    Five experiments using the visual habitation paradigm with 158 infants demonstrated that these 10-month olds did not use property/kind information to establish representations of 2 numerically distinct objects, a finding that provided support for the object-first hypothesis. (SLD)

  13. Ape Metaphysics: Object Individuation without Language

    ERIC Educational Resources Information Center

    Mendes, Natacha; Rakoczy, Hannes; Call, Josep

    2008-01-01

    Developmental research suggests that whereas very young infants individuate objects purely on spatiotemporal grounds, from (at latest) around 1 year of age children are capable of individuating objects according to the kind they belong to and the properties they instantiate. As the latter ability has been found to correlate with language, some…

  14. Space perception and William James's metaphysical presuppositions.

    PubMed

    Farrell, Martin J

    2011-05-01

    William James's overtly philosophical work may be more continuous with his psychological work than is sometimes thought. His Essays in Radical Empiricism can be understood as an explicit statement of the absolute presupposition that formed the basis of Jamesian psychology: that direct experience is primary and has to be taken at face value. An examination of James's theory of space perception suggests that, even in his early work, he presupposed the primacy of direct experience, and that later changes in his account of space perception can be understood as making his view more consistent with this presupposition. In his earlier view of space perception, James argued that sensations were directly experienced as spatial, though he accepted that spatial relations between sensations may be constructed by higher order thought. In his later view, however, James argued that spatial relations were just as directly experienced as sensations. The work of T. H. Green may have prompted James to recognize the full consequence of his ideas and to realize that taking experience at face value required that spatial relations be thought of as intrinsic to experience rather than the result of intellectual construction.

  15. A metaphysical journey in a comatose state.

    PubMed

    Gimenez, R

    1992-01-01

    This paper is about the intense experience of being in the hospital in a comatose state resulting from an aneurysm with a massive brain hemorrhage and two subsequent surgeries. The event begins with a premonition of what will happen from a street name. The experience of brain surgeries, along with the fine care of the nurses, left me with a truly memorable impression. This paper describes the various feelings and strong emotions that I experienced while in a comatose state. It suggests that a patient in a comatose state can exist in a deep state of emotions close to ecstasy. The paper concludes with gratefulness to all the people who followed me step by step on this journey.

  16. Ape Metaphysics: Object Individuation without Language

    ERIC Educational Resources Information Center

    Mendes, Natacha; Rakoczy, Hannes; Call, Josep

    2008-01-01

    Developmental research suggests that whereas very young infants individuate objects purely on spatiotemporal grounds, from (at latest) around 1 year of age children are capable of individuating objects according to the kind they belong to and the properties they instantiate. As the latter ability has been found to correlate with language, some…

  17. Measurement of Workload: Physics, Psychophysics, and Metaphysics

    NASA Technical Reports Server (NTRS)

    Gopher, D.

    1984-01-01

    The present paper reviews the results of two experiments in which workload analysis was conducted based upon performance measures, brain evoked potentials and magnitude estimations of subjective load. The three types of measures were jointly applied to the description of the behavior of subjects in a wide battery of experimental tasks. Data analysis shows both instances of association and dissociation between types of measures. A general conceptual framework and methodological guidelines are proposed to account for these findings.

  18. Exploratory Bifactor Analysis of the WJ-III Achievement at School Age via the Schmid-Leiman Orthogonalization Procedure

    ERIC Educational Resources Information Center

    Dombrowski, Stefan C.

    2015-01-01

    The structure of academic achievement measures has been rarely investigated in the literature apart from that which appears in the instruments' technical manuals. This is concerning, given the widespread use of academic achievement instruments when making educational decisions about children. The Woodcock-Johnson III (WJ-III) Achievement for…

  19. Hierarchical Factor Structure of the Cognitive Assessment System: Variance Partitions from the Schmid-Leiman (1957) Procedure

    ERIC Educational Resources Information Center

    Canivez, Gary L.

    2011-01-01

    Orthogonal higher-order factor structure of the Cognitive Assessment System (CAS; Naglieri & Das, 1997a) for the 5-7 and 8-17 age groups in the CAS standardization sample is reported. Following the same procedure as recent studies of other prominent intelligence tests (Dombrowski, Watkins, & Brogan, 2009; Canivez, 2008; Canivez &…

  20. Renal osteodystrophy: alpha-Heremans Schmid glycoprotein/fetuin-A, matrix GLA protein serum levels, and bone histomorphometry.

    PubMed

    Coen, Giorgio; Ballanti, Paola; Balducci, Alessandro; Grandi, Fabio; Manni, Micaela; Mantella, Daniela; Pierantozzi, Andrea; Ruggeri, Maria; Sardella, Daniela; Sorbo, Giovanni; Bonucci, Ermanno

    2006-07-01

    Fetuin-A of hepatic origin circulates in large amounts in serum, but also is expressed in bone, where it is an inhibitor of transforming growth factor beta (TGF-beta)/bone morphogenetic protein (BMP) proteins. Together with matrix GLA protein (MGP), fetuin-A is able to make up a complex with calcium and phosphate that is more soluble than calcium and phosphate alone, preventing its deposition in extraskeletal tissues. Experimental results suggested that this complex is made at bone tissue level. The aim of this study is to evaluate whether serum fetuin-A and MGP are influenced by type of renal osteodystrophy, they correlate with bone histomorphometric and histodynamic parameters, and/or serum levels may influence bone turnover. Thirty-eight hemodialysis patients who volunteered to undergo a bone biopsy were studied. Patients (27 men, 11 women) had a mean age of 55.2 +/- 11.8 years and dialysis vintage of 75.7 +/- 57.4 months. They were not administered vitamin D or drugs connected with mineral metabolism. They underwent transiliac bone biopsy after tetracycline labeling. Biopsies were performed for histological, histomorphometric, and histodynamic evaluation and aluminum histochemistry. Serum fetuin-A and MGP were measured by using enzyme-linked immunosorbent assay kits. Serum fetuin-A levels were significantly less than normal, whereas MGP levels were less than the normal average. Fetuin-A levels in patients with hyperparathyroidism, mixed osteodystrophy, and low-turnover osteodystrophy were 0.219 +/- 0.1, 0.27 +/- 0.1, and 0.197 +/- 0.1 ng/mL, respectively (P = not significant). Fetuin-A level significantly correlated inversely with values for several histomorphometric parameters, such as osteoid volume (OV/BV), osteoblastic surface (Ob.S/BS), osteoid surface (OS/BS), and osteoclastic surface (Oc.S/BS). Logistic regression showed odds ratios of 5.3 and 4.9 for the association of high fetuin-A levels with low values for OS/BS and Ob.S/BS, respectively. Results of multiple regression analysis with intact parathyroid hormone and fetuin-A levels as independent variables and OV/BV and Ob.S/BS as dependent variables showed that independent variables correlated significantly with dependent variables, positively for intact parathyroid hormone levels and inversely for fetuin-A levels. MGP levels in patients with hyperparathyroidism, mixed osteodystrophy, and low-turnover osteodystrophy were not significantly different (3.94 +/- 0.86, 3.40 +/- 0.99, and 5.64 +/- 2.4 nmol/L, respectively). By dividing MGP serum values into tertiles, mean values for OV/BV were different (analysis of variance, P < 0.04), with a greater value in the higher MGP tertile. By exclusion of 3 extravariant cases (>3 SDs greater than the mean), 1 case for each type of osteodystrophy, a significant correlation between bone formation rate and MGP serum level was found (P < 0.05). In addition, a significant correlation was found between MGP level and trabecular thickness. Fetuin-A and MGP levels correlated with bone formation parameters. This association could be caused by an effect of these proteins on bone formation, presumably mediated by the TGF-beta/BMP system. Fetuin-A, as opposed to MGP, is known to inhibit the TGF-beta/BMP complex, a protein-cytokine system that appears to be an important regulator of bone formation and probably a factor with an important role in renal osteodystrophy.

  1. Exploratory Bifactor Analysis of the WJ-III Achievement at School Age via the Schmid-Leiman Orthogonalization Procedure

    ERIC Educational Resources Information Center

    Dombrowski, Stefan C.

    2015-01-01

    The structure of academic achievement measures has been rarely investigated in the literature apart from that which appears in the instruments' technical manuals. This is concerning, given the widespread use of academic achievement instruments when making educational decisions about children. The Woodcock-Johnson III (WJ-III) Achievement for…

  2. Marked variability in the radiographic features of cartilage-hair hypoplasia: case report and review of the literature.

    PubMed

    Kwan, Andrea; Manning, M A; Zollars, Linda K; Hoyme, H Eugene

    2012-11-01

    Cartilage-hair hypoplasia (CHH) is a rare recessive metaphyseal chondrodysplasia characterized by severe short stature, ectodermal dysplasia, anemia in childhood, immune deficiency, susceptibility to malignancy, and normal intelligence. Short, thick long bones, metaphyseal flaring and irregularities, and globular epiphyses at the knees and ankles are the typical radiographic findings. The diagnosis is primarily made on the basis of clinical features, although mutations in the RMRP gene have recently been described in affected individuals, facilitating confirmation of the clinical diagnosis in atypical patients. We present a patient with two RMRP mutations whose stature and ectodermal features supported the diagnosis of CHH, but whose radiographic findings and other extraskeletal findings did not. We propose that the most consistent and reliable features of CHH are short stature of prenatal onset and ectodermal dysplasia, and suggest that the diagnosis of CHH be considered and mutation analysis pursued even when typical radiographic findings are absent.

  3. Congenital chondrodysplastic dwarfism with dyshematopoiesis in a holstein calf.

    PubMed

    Naito, Kazumi; Maruyama, Minoru; Dobashi, Koji; Tanimura, Nobuhiko; Kimura, Kumiko; Haritani, Makoto; Nakajima, Yasuyuki

    2002-10-01

    A holstein calf with congenital chondrodysplastic dwarfism was histopathologically examined. The head of the calf was relatively flat giving a dog-like appearance with its short nose and sloping forehead. Limb bones were dumbbell-like with short diaphysis and hypertrophied metaphyses. Bone marrow was pale, whitish and fatty. In the metaphyseal plates most of chondrocytes were pyknotic with swollen and ghost-like cytoplasm, and were irregularly arranged. Column of calcified cartilage were poorly formed losing comb-like structure. Bone marrow was ischemic with poor hematopoiesis and was moderately replaced by adipose tissue. In articular cartilage, most of chondrocytes were degenerated with ghost-like cytoplasm. Many cartilage canals and occasional bone marrow-like structure were formed. The characteristics lesions of the calf were chondrodysplasia and dyshematopoiesis.

  4. Two different forms of lethal chondrodysplasias caused by COL2A1 gene mutations

    SciTech Connect

    Winterpacht, A.; Hilbert, K.; Schwarze, U.

    1994-09-01

    Two bone dysplasia families seem to be due to mutations in the type II procollagen gene (COL2A1): the so-called spondyloepiphyseal dysplasia congenita (SEDC) group with achondrogenesis II, hypochondrogenesis, SEDC, osteoarthrosis and the Stickler-Kniest pattern that include different forms of Kniest and Stickler dysplasia. Both groups comprise a clinical spectrum ranging from lethal to mild. COL2A1-mutations have been identified in lethal forms of the SEDC family but not in lethal forms of the Stickler/Kniest group. We now report a COL2A-1 mutation in an additional case of hypochondrogenesis (patient S) and in a lethal case of Kniest dysplasia (patient B). We amplified all 54 exons of the COL2A1 gene in both patients and screened the PCR products for mutations by SSCP analysis and sequencing. In patient B, we identified an 18 bp deletion in exon 34 which removes 6 amino acids from the mature protein. In patient S, we were able to identify a two base pair exchange (GG to AT) in exon 31, which leads to the very unusual conversion of Gly to Ile. To our knowledge, this is the first report of a Gly to Ile conversion in the COL2A1 gene, and the first report of a COL2A1 gene mutation in a lethal form of Kniest dysplasia. On the basis of the known COL2A1 gene mutations and the genotype-phenotype correlations established so far, we provide molecular data (an in frame deletion in patient B and a Gly conversion in patient S) that support their clinical classification as Kniest dysplasia and hypochondrogenesis, respectively.

  5. Location interval at Xp22.3 for X-linked chondrodysplasia punctata

    SciTech Connect

    Sheffield, L.; Hutchison, W.; Holloway, A.

    1994-09-01

    The literature shows that there is a gene for chondropdysplasia punctata (CDP) located at Xp22.3 from the study of chromosomal rearrangements involving Xp. It is also suspected that there are genes for short stature and mental retardation nearby. Petit has described a family of brachytelephalangic CDP that was due to a submicroscopic interstitial deletion of Xp22.3. Symmetrical (mild) CDP seems to be identical to brachytelephalangic CDP clinically, has variable features of short stature and mental retardation, and has a preponderance of affected males. We describe results using DNA probes from Xp22.3 in 10 patients with radiologically proven symmetrical CDP. Other known genes in this region have a high proportion of deletions as we screened our patients for deletions in DXYS20, MIC2, PABX, DXYS159X, DXS283, DXS285, J502(PCR), DXS31, DXS43 (listed distally to proximally). No deletions were found. We have also studied a fetus with proven CDP who has a X,Y translocation (46,V,t(X;Y)(p22.3;q12)mat). This patient was deleted for all distal probes up to J502(PCR). It is not yet known where the breakpoint lies but it may be just proximal to the CDP gene. The results of the 10 symmetrical CDPs and the X;Y translocation fetus are presented with further definition of the X chromosomal breakpoint in the translocation.

  6. Hydrops associated with chondrodysplasia of the fetus in a miniature Scottish Highland cow.

    PubMed

    Catalina Cabrera, L; McNabb, Bret R; Woods, Sarah E; Cartoceti, Andrew N; Busch, Rosie C

    2016-03-01

    CASE DESCRIPTION A 2-year-old primiparous miniature Scottish Highland cow with an unknown breeding date was evaluated for suspected hydrops. CLINICAL FINDINGS Transabdominal and transrectal ultrasonographic examination identified a large amount of hypoechoic fluid within an enlarged uterus; the fetus could not be identified. Presence of a severely distended uterus and concerns regarding associated health risks to the cow led to the decision to induce labor. Although fluids were expelled, parturition did not progress further over the following 48 hours. Vaginal examination revealed a partially dilated cervix and an abnormally shaped fetus that was too large to pass vaginally. TREATMENT AND OUTCOME Supportive care was provided to the cow, and a stillborn bull calf was delivered by cesarean section. Grossly evident chondrodystrophic dwarfism with hydrocephalus, compatible with so-called bulldog calf malformations, was confirmed by diagnostic imaging and histopathologic evaluation. The cow recovered from surgery uneventfully and was discharged from the hospital the following day. Genetic analysis of DNA from hair roots collected from the sire and dam confirmed both were carriers of an aggrecan-1 gene mutation (bulldog dwarfism1) previously associated with dwarfism and bulldog calf malformations in Dexter cattle. CLINICAL RELEVANCE To our knowledge, this is the first reported case of bulldog calf malformations associated with an aggrecan-1 gene mutation in miniature Scottish Highland cattle, confirming that at least 1 genetic mutation associated with this condition is found in cattle breeds other than Dexter. The findings highlighted the clinical importance of testing for known genetic diseases in breeding cattle, particularly among miniature breeds.

  7. Receptors for parathyroid hormone and parathyroid hormone-related peptide: from molecular cloning to definition of diseases.

    PubMed

    Jüppner, H; Schipani, E

    1996-07-01

    The parathyroid hormone/parathyroid hormone-related peptide receptor belongs to a distinct family of G protein-coupled receptors, the members of which usually signal through at least two second messenger systems, adenylate cyclase and phospholipase C. The parathyroid hormone/ parathyroid hormone-related peptide receptor is most abundantly expressed in bone, kidney and growth-plate chondrocytes, and, at lower levels, in a variety of fetal and adult tissues. To search for human diseases that are caused by parathyroid hormone/parathyroid hormone-related peptide receptor defects, genomic DNA of patients with pseudohypoparathyroidism type Ib and of patients with Jansen's metaphyseal chondrodysplasia was screened for mutations in all coding exons of the receptor gene. Inactivating parathyroid hormone/parathyroid hormone-related peptide receptor mutations were excluded in patients with pseudohypoparathyroidism type Ib. However, a receptor mutation that causes agonist-independent, constitutive cAMP accumulation was identified in a patient with Jansen's metaphyseal chondrodysplasia, a rare form of short-limbed dwarfism associated with hypercalcemia despite normal or low concentrations of parathyroid hormone and parathyroid hormone-related peptide. These findings allow the conclusion to be drawn that parathyroid hormone/parathyroid hormone-related peptide receptors mediate the endocrine actions of parathyroid hormone, which are required for the control of calcium homeostasis and the autocrine-paracrine actions of parathyroid hormone-related peptide, which are required for normal growth-plate development.

  8. Social Darwinism, Scientific Racism, and the Metaphysics of Race.

    ERIC Educational Resources Information Center

    Dennis, Rutledge M.

    1995-01-01

    Maintains that science is often used as a justification to propose, project, and enact racist social policies. The philosophy of Social Darwinism is reviewed, and its assumptions about race and human abilities is discussed. The consequences of scientific racism for dominant groups are analyzed. (GR)

  9. Metaphysics, science and the asphaltene phase behavior problem

    SciTech Connect

    Lockhart, T.P.

    1996-12-31

    Spontaneous phase separation and deposition of the asphaltenic component of crude oils is the source of costly problems in the petroleum industry. Over the past several decades so-called {open_quotes}colloid stabilization{close_quotes} model has dominated attempts to account for the phase behavior of the asphaltene fraction of the crude oil. We will argue that this model is not {open_quotes}scientific{close_quotes} in the sense that is has been applied only for the post-hoc rationalization of experimental results; absent have been serious attempts to experimentally test specific predictions deduced from the model. A critical examination of the colloid stabilization model brings to light several fundamental shortcomings. An alternative thermodynamic, or {open_quotes}solvation{close_quotes} model is shown to make predictions in far better agreement with experiment, and has been the key to developing an analytical model that accurately predicts the conditions under which crude oils become unstable to asphaltene deposition. This example will be used to argue that the defining elements of (good) scientific research - the formulation of explicit hypotheses of high predictive content and their critical evaluation, above all by experimental attempts at falsification - are also effective, indeed necessary, for analyzing the complex problems offered by the {open_quotes}real{close_quotes} world and for achieving technological advancement.

  10. Between physics and metaphysics: structure as a boundary concept.

    PubMed

    Tau, Ramiro

    2015-03-01

    The notion of structure is found to be used in a great number of theories, scientific research programs and world views. However, its uses and definitions are as diverse as the objects of the scientific disciplines where it can be found. Without trying to recreate the structuralist aspiration from the mid XX century, which believed to have found in this notion a common transdisciplinary language, I discuss a specific aspect of this concept that could be considered a constant in different perspectives. This aspect refers to the location of the notions of structure as boundaries in the different scientific theories. With this, I try to argue that the definition or presentation of a structure configures in itself the frontier for scientific knowledge, defining at the same time implied ontological assumptions. In order to discuss this hypothesis, and taking into consideration the double origin of contemporary notions of structure -the mathematical and linguistic line-, I revise several theoretical perspectives which made explicit the relation between structures and knowledge, and their relation with the real: the arguments on physical knowledge by Eddington, structural anthropology, structural linguistics, Lacanian psychoanalysis and Piaget's genetic psychology.

  11. Cognitive Metaphor Theory and the Metaphysics of Immediacy.

    PubMed

    Madsen, Mathias W

    2016-05-01

    One of the core tenets of cognitive metaphor theory is the claim that metaphors ground abstract knowledge in concrete, first-hand experience. In this paper, I argue that this grounding hypothesis contains some problematic conceptual ambiguities and, under many reasonable interpretations, empirical difficulties. I present evidence that there are foundational obstacles to defining a coherent and cognitively valid concept of "metaphor" and "concrete meaning," and some general problems with singling out certain domains of experience as more immediate than others. I conclude from these considerations that whatever the facts are about the comprehension of individual metaphors, the available evidence is incompatible with the notion of an underlying conceptual structure organized according to the immediacy of experience. Copyright © 2015 Cognitive Science Society, Inc.

  12. Metaphysics of colliding self-gravitating plane waves

    SciTech Connect

    Matzner, R.A.; Tipler, F.J.

    1984-04-15

    We discuss certain global features of colliding plane-wave solutions to Einstein's equations. In particular, we show that the apparently local curvature singularities both in the Khan-Penrose solution and in the Bell-Szekeres solution are actually global. These global singularities are associated with the breakdown of nondegenerate planar symmetry in the characteristic initial data sets.

  13. What is a gene? From molecules to metaphysics.

    PubMed

    Rolston, Holmes

    2006-01-01

    Mendelian genes have become molecular genes, with increasing puzzlement about locating them, due to increasing complexity in genomic webworks. Genome science finds modular and conserved units of inheritance, identified as homologous genes. Such genes are cybernetic, transmitting information over generations; this too requires multi-leveled analysis, from DNA transcription to development and reproduction of the whole organism. Genes are conserved; genes are also dynamic and creative in evolutionary speciation-most remarkably producing humans capable of wondering about what genes are.

  14. Neuroscientific Prediction and the Intrusion of Intuitive Metaphysics.

    PubMed

    Rose, David; Buckwalter, Wesley; Nichols, Shaun

    2017-03-01

    How might advanced neuroscience-in which perfect neuro-predictions are possible-interact with ordinary judgments of free will? We propose that peoples' intuitive ideas about indeterminist free will are both imported into and intrude into their representation of neuroscientific scenarios and present six experiments demonstrating intrusion and importing effects in the context of scenarios depicting perfect neuro-prediction. In light of our findings, we suggest that the intuitive commitment to indeterminist free will may be resilient in the face of scientific evidence against such free will. Copyright © 2015 Cognitive Science Society, Inc.

  15. Social Darwinism, Scientific Racism, and the Metaphysics of Race.

    ERIC Educational Resources Information Center

    Dennis, Rutledge M.

    1995-01-01

    Maintains that science is often used as a justification to propose, project, and enact racist social policies. The philosophy of Social Darwinism is reviewed, and its assumptions about race and human abilities is discussed. The consequences of scientific racism for dominant groups are analyzed. (GR)

  16. Cognitive Metaphor Theory and the Metaphysics of Immediacy

    ERIC Educational Resources Information Center

    Madsen, Mathias W.

    2016-01-01

    One of the core tenets of cognitive metaphor theory is the claim that metaphors ground abstract knowledge in concrete, first-hand experience. In this paper, I argue that this grounding hypothesis contains some problematic conceptual ambiguities and, under many reasonable interpretations, empirical difficulties. I present evidence that there are…

  17. Metaphysics of colliding self-gravitating plane waves

    NASA Astrophysics Data System (ADS)

    Matzner, Richard A.; Tipler, Frank J.

    1984-04-01

    We discuss certain global features of colliding plane-wave solutions to Einstein's equations. In particular, we show that the apparently local curvature singularities both in the Khan-Penrose solution and in the Bell-Szekeres solution are actually global. These global singularities are associated with the breakdown of nondegenerate planar symmetry in the characteristic initial data sets.

  18. Can metaphysical values protect mountain wildlands from development damage?

    Treesearch

    Lawrence S. Hamilton; Jeneda Benally

    2015-01-01

    This paper addresses the question of whether spiritual, religious or cultural values held by humans for some wild mountain areas can protect these special places from developments that impair both these values and wild nature. The answer is sometimes yes, sometimes no, and sometimes a minimization of damage. Examples of each of these scenarios are briefly given, along...

  19. The "Spiritual Handshake": Toward a Metaphysical Sustainability Metrics

    ERIC Educational Resources Information Center

    Beringer, Almut

    2007-01-01

    Is it feasible and appropriate to develop a sustainability metrics which captures cosmological-spiritual dimensions of un/sustainability? Departing from the supposition that the crisis of unsustainability is a crisis of worldview and misguided cosmology which needs redirection on a cultural and global scale, this essay introduces the notion of a…

  20. Is Society Capable of Learning? Beyond a Metaphysical Foundation

    ERIC Educational Resources Information Center

    Su, Ya-hui

    2016-01-01

    There is an assumption that any contemporary society should become a learning society to maintain stability in the face of change. Although proponents and policymakers take for granted that a society has the ability to learn, can this idea be defended? There is a problem in determining exactly what is meant by a learning society that learns. One…

  1. Crazy children, fantastical theories, and the many uses of metaphysics.

    PubMed

    Johnson, C N

    1997-12-01

    Woolley rightly challenges the incredible idea, held by some adults, that it is children who are peculiarly "fantastical" in their thinking. However, Woolley expresses little appreciation for "fantastical thinking" as it underlies the capacity for both grand delusions and amazing insights. In reducing "fantastical thinking" to conceptual error, she overlooks the mythical underpinnings of her own theorizing and neglects the many constructive roles of "fantastical thinking" in development.

  2. Metaphysical and value underpinnings of traditional medicine in West Africa.

    PubMed

    Omonzejele, Peter F; Maduka, Chukwugozie

    2011-02-01

    This study investigated the extent to which recourse to traditional healers depended on biometric variables; ways of knowing in good time what ailments were more likely to be better handled by traditional healers; rationale behind traditional healing methodologies. On the whole, four research questions were engaged. The sample for the study included residents in urban (Benin City) and rural (Ehime Mbano) communities in Nigeria. The instruments comprised of two questionnaires. The traditional healers were also interviewed in addition. The findings of the research included the following: in both rural and urban areas, women and more elderly persons had more recourse than other groups to traditional medicine; Christians, less educated persons, self-employed persons and women affirmed most strongly to the efficacy of traditional medicine over Western medicine with respect to certain ailments; ways for averting spiritual illnesses included obeying instructions from ancestors and offering regular sacrifices to the gods; methods used by traditional healers to determine whether an ailment was "spiritual" or as a result of home problems included diagnosis linked to divination, interpretation of dreams particularly those involving visits by ancestors, interpretation of nightmares and omens such as the appearance of owls; methods for curing patients included use of herbs particularly those believed to have magical powers, offering of sacrifices, use of incantations and wearing of protective medicine.

  3. Localizationism to neuroplasticity---the evolution of metaphysical neuroscience.

    PubMed

    Acharya, Sourya; Shukla, Samarth; Mahajan, S N; Diwan, S K

    2012-09-01

    Neuroplasticity (also referred to as brain plasticity, cortical plasticity or cortical re-mapping) is the changing of neurons, organization of their networks, and their function via new experiences. The brain consists of nerve cells or neurons and glial cells which are interconnected, and learning may happen through changing of the strength of the connections between neurons, by adding or removing connections, or by adding new cells. "Plasticity" relates to learning by adding or removing connections, or adding cells. Contrary to the traditional belief of neurolocalizationism, which states that each region of brain is dedicated for a particular type of activity, neuroplasticity has struggled a long way and has created a safe niche in the neuroscientific hall of honor. Salute to the neuroplasticians for their efforts to revolutionize the doctrine of neurology for the better understanding of the remarkable powers of brain. This article is a brief attempt to fathom the mysterious and scientific ways of neuroplasticity.

  4. Neither metaphysical dichotomy nor pure identity: clarifying the emergentist creed.

    PubMed

    Sartenaer, Olivier

    2013-09-01

    Emergentism is often misleadingly described as a monolithic "third way" between radical monism and pluralism. In the particular case of biology, for example, emergentism is perceived as a middle course between mechanicism and vitalism. In the present paper I propose to show that the conceptual landscape between monism and pluralism is more complex than this classical picture suggests. On the basis of two successive analyses-distinguishing three forms of tension between monism and pluralism and a distinction between derivational and functional reduction-I define three different versions of emergentism that can be considered as consistent middle courses between monism and pluralism (respectively theoretical, explanatory and causal emergence). I then emphasise the advantage of this taxonomy of the concepts of emergence by applying the results of my analysis to the historical controversy that pertains to the relationship between life and matter.

  5. Cognitive Metaphor Theory and the Metaphysics of Immediacy

    ERIC Educational Resources Information Center

    Madsen, Mathias W.

    2016-01-01

    One of the core tenets of cognitive metaphor theory is the claim that metaphors ground abstract knowledge in concrete, first-hand experience. In this paper, I argue that this grounding hypothesis contains some problematic conceptual ambiguities and, under many reasonable interpretations, empirical difficulties. I present evidence that there are…

  6. Mirror neurons: Enigma of the metaphysical modular brain.

    PubMed

    Acharya, Sourya; Shukla, Samarth

    2012-07-01

    Mirror neurons are one of the most important discoveries in the last decade of neuroscience. These are a variety of visuospatial neurons which indicate fundamentally about human social interaction. Essentially, mirror neurons respond to actions that we observe in others. The interesting part is that mirror neurons fire in the same way when we actually recreate that action ourselves. Apart from imitation, they are responsible for myriad of other sophisticated human behavior and thought processes. Defects in the mirror neuron system are being linked to disorders like autism. This review is a brief introduction to the neurons that shaped our civilization.

  7. Mirror neurons: Enigma of the metaphysical modular brain

    PubMed Central

    Acharya, Sourya; Shukla, Samarth

    2012-01-01

    Mirror neurons are one of the most important discoveries in the last decade of neuroscience. These are a variety of visuospatial neurons which indicate fundamentally about human social interaction. Essentially, mirror neurons respond to actions that we observe in others. The interesting part is that mirror neurons fire in the same way when we actually recreate that action ourselves. Apart from imitation, they are responsible for myriad of other sophisticated human behavior and thought processes. Defects in the mirror neuron system are being linked to disorders like autism. This review is a brief introduction to the neurons that shaped our civilization. PMID:23225972

  8. Description of the larva of Philopotamus achemenus Schmid 1959 (Trichoptera: Philopotamidae) and a larval key for species of Philopotamus in Greece.

    PubMed

    Karaouzas, Ioannis

    2014-06-16

    The larva of Philopotamus achemenus is described for the first time. The diagnostic features of the species are described and illustrated and some information regarding its ecology and world distribution is included. Furthermore, its morphological characters are compared and contrasted in an identification key for larvae of the Greek species of Philopotamus. 

  9. 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

  10. Cartilage-hair hypoplasia associated with isolated hypoganglionosis: A case report.

    PubMed

    Yasui, Yoshitomo; Kohno, Miyuki; Nishida, Syouichi; Shironomae, Tsubasa; Satomi, Miwa; Kuwahara, Tsuyoshi; Takahashi, Sadayoshi; Niida, Yo

    2017-01-01

    Cartilage-hair hypoplasia is a rare metaphyseal chondrodysplasia characterized by diverse clinical manifestations and a high incidence of Hirschsprung disease. We present a male patient with cartilage-hair hypoplasia associated with severe intestinal obstruction. Genetic analysis of ribonuclease mitochondrial RNA-processing complex gene identified compound heterozygous mutations consisted with previously reported mutations: n.-14_3dupGAAGCTGAGGACGTGGT and n.183G > T. First, we considered that intestinal obstruction was due to an extensive type of Hirschsprung disease, but it was later confirmed as isolated hypoganglionosis. Isolated hypoganglionosis is rare and its therapeutic strategies are not well established. In cases of cartilage-hair hypoplasia associated with severe intestinal obstruction, the differential diagnosis of not only Hirschsprung disease, but also isolated hypoganglionosis, should be considered. © 2016 Japanese Teratology Society.

  11. A second family with autosomal recessive spondylometaphyseal dysplasia and early death.

    PubMed

    Mégarbané, André; Mehawej, Cybel; El Zahr, Amir; Haddad, Soha; Cormier-Daire, Valérie

    2014-04-01

    We report on a consanguineous Lebanese family in which two sibs had pre- and post-natal growth retardation, developmental delay, large anterior fontanel, prominent forehead, low-set ears, depressed nasal bridge, short nose, anteverted nares, increased nasal width, prominent abdomen, and short limbs. Radiographs disclosed the presence of wormian bones, platyspondyly, decreased interpedicular distance at the lumbar vertebrae, square iliac bones, horizontal acetabula, trident acetabula, hypoplastic ischia, partial agenesis of the sacrum, ribs with cupped ends, short long bones with abnormal modeling, slight widening of the distal femoral metaphyses, and delayed epiphyseal ossification. Both sibs had a severe cardiomegaly and died at around 24 months from a heart failure. Differential diagnosis suggests that this is a second family presenting a newly described early lethal chondrodysplasia first reported by [Mégarbané et al. (2008); Am J Med Genet Part A 146A:2916-2919].

  12. 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.

  13. Metaphysics for an enlightened public: The controversy over monads in Germany, 1746-1748.

    PubMed

    Broman, Thomas

    2012-03-01

    This essay analyzes the controversy that attended the prize essay question on monads proposed by the Berlin Academy of Sciences in 1746. The controversy was first touched off by an anonymous pamphlet published by the mathematician Leonhard Euler, the academy's most well known member, that attacked the doctrine of monads. It peaked with the awarding of the prize to Johann Heinrich Gottlob Justi, whose winning essay closely followed Euler's arguments. This essay discusses the controversy as one instance in a broader quarrel in the German academic community over the suitability of Christian Wolff's philosophy as the foundation for a broad range of academic disciplines, including natural philosophy. It also analyzes the controversy as displaying the central role of the periodical press in the emergent German public sphere.

  14. On the reality of the incorporeal intelligibles: a reflection on the metaphysics of psychology.

    PubMed

    Bakan, D

    2001-10-01

    An argument is made for the existence of entities which are neither necessarily material nor mental as real and which are apprehensible and generatable by human beings. Money, color, triangle, natural and social law, instruction, danger, and invention are given as examples. It is the task of the science of psychology to grasp, conceptualise, and characterise the human being that lives in a world of incorporeal intelligibles and makes them as well. The tradition of Aristotle, Brentano and his two students, Freud and Husserl, and Wertheimer is identified favorably in this connection.

  15. A metaphysics of living systems: the Yōga-Vāsistha view.

    PubMed

    Narasimha, Roddam

    2002-12-01

    The Yōga-Vāsistha is a rich and complex philosophical 'poem' (kāvya) of epic length, written in classical Sanskrit by an unknown author some time between the 6th and 13th centuries CE, probably around the 7th century. It is notable for its eloquent praise of self-effort and enquiry or analysis, and for its severe disparagement of the notion of fate. It views consciousness as (a) characterizing all living forms (including plant and insect life), (b) being atomic, and (c) analogous to the emergence of waves and whirlpools in water; it therefore grapples with what today would be called the problems of reductionism and emergentism. Notions of the survival of the fittest, and of a dynamic process of creation and loss, are expressed with characteristic force. The paper presents a selection of verses (in an English translation) setting forth these views, and a brief analysis of their implications.

  16. Constructing the principles: Method and metaphysics in the progress of theoretical physics

    NASA Astrophysics Data System (ADS)

    Glass, Lawrence C.

    This thesis presents a new framework for the philosophy of physics focused on methodological differences found in the practice of modern theoretical physics. The starting point for this investigation is the longstanding debate over scientific realism. Some philosophers have argued that it is the aim of science to produce an accurate description of the world including explanations for observable phenomena. These scientific realists hold that our best confirmed theories are approximately true and that the entities they propose actually populate the world, whether or not they have been observed. Others have argued that science achieves only frameworks for the prediction and manipulation of observable phenomena. These anti-realists argue that truth is a misleading concept when applied to empirical knowledge. Instead, focus should be on the empirical adequacy of scientific theories. This thesis argues that the fundamental distinction at issue, a division between true scientific theories and ones which are empirically adequate, is best explored in terms of methodological differences. In analogy with the realism debate, there are at least two methodological strategies. Rather than focusing on scientific theories as wholes, this thesis takes as units of analysis physical principles which are systematic empirical generalizations. The first possible strategy, the conservative, takes the assumption that the empirical adequacy of a theory in one domain serves as good evidence for such adequacy in other domains. This then motivates the application of the principle to new domains. The second strategy, the innovative, assumes that empirical adequacy in one domain does not justify the expectation of adequacy in other domains. New principles are offered as explanations in the new domain. The final part of the thesis is the application of this framework to two examples. On the first, Lorentz's use of the aether is reconstructed in terms of the conservative strategy with respect to the principles of Galilean relativity. A comparison between the conservative strategy as an application of the conservative strategy and TeVeS as one of the innovative constitutes the second example.

  17. Incompetence and Intrusion: On the Metaphysical Use of Illiteracy in U.S. Political Discourse

    ERIC Educational Resources Information Center

    St. Clair, Ralf; Sandlin, Jennifer A.

    2004-01-01

    "Illiteracy" is still a powerful concept in adult literacy education. St. Clair and Sandlin examine the use of the term and the policies and programs it currently justifies. The authors argue that the concept of illiteracy should be avoided due to its inherent deficit focus.

  18. Genetics Home Reference: intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and ...

    MedlinePlus

    ... Case report with a previously unreported feature and review of published literature. Am J Med Genet A. 2010 Dec; ... Endocrinol Metab. 1999 Dec;84(12):4335-40. Review. Citation on PubMed Reviewed : April 2013 Published : October 10, 2017 The resources on this site ...

  19. Judgement and the role of the metaphysics of values in medical ethics.

    PubMed

    Thornton, T

    2006-06-01

    Despite its authors' intentions, the four principles approach to medical ethics can become crudely algorithmic in practice. The first section sets out the bare bones of the four principles approach drawing out those aspects of Beauchamp and Childress's Principles of biomedical ethics that encourage this misreading. The second section argues that if the emphasis on the guidance of moral judgement is augmented by a particularist account of what disciplines it, then the danger can be reduced. In the third section, I consider how much the resultant picture diverges from Beauchamp and Childress's actual position.

  20. "Lekta" and Inner Form as Loci of Sense in Metaphysics of Language

    ERIC Educational Resources Information Center

    Lyanda-Geller, Olga V.

    2012-01-01

    This project seeks to answer the question whether it is possible to locate sense in language. I suggest that two theories seemingly unrelated to each other, one belonging to Ancient thought, and the other to modern Continental philosophy, give positive answer to the question. I focus on the concepts of "lekton" and "inner form"…

  1. Judgement and the role of the metaphysics of values in medical ethics

    PubMed Central

    Thornton, T

    2006-01-01

    Despite its authors' intentions, the four principles approach to medical ethics can become crudely algorithmic in practice. The first section sets out the bare bones of the four principles approach drawing out those aspects of Beauchamp and Childress's Principles of biomedical ethics that encourage this misreading. The second section argues that if the emphasis on the guidance of moral judgement is augmented by a particularist account of what disciplines it, then the danger can be reduced. In the third section, I consider how much the resultant picture diverges from Beauchamp and Childress's actual position. PMID:16731739

  2. Advertising, Desire, and the Unified Field: A Metaphysical Perspective on Advertising.

    ERIC Educational Resources Information Center

    Wesson, David A.

    Suggesting that ills said to be perpetrated by advertising are really attributes of a unified field of consciousness, this paper discusses the concept that advertising creates desire. The generally undisputed notion that advertising helps to create specific desires is distinguished from the criticism that advertising increases the level and…

  3. Listening to Children's Views of Spiritual and Metaphysical Concepts: A New Dimension to Educational Psychology Practice?

    ERIC Educational Resources Information Center

    Gersch, Irvine; Dowling, Fiona; Panagiotaki, Georgia; Potton, Anita

    2008-01-01

    Educational psychologists (EPs) have for many years been developing techniques for listening to children. The aim of the present research was to investigate ways of listening to the "spiritual" views of children in order to develop questions that educational psychologists might use as part of the assessment repertoire. The study explored…

  4. On the Poverty of Philosophy: The Metaphysics of McLaren's "Revolutionary Critical Pedagogy"

    ERIC Educational Resources Information Center

    Ellison, Scott

    2009-01-01

    In this essay, Scott Ellison examines a line of critical thought in educational theory that has unapologetically sought transcendence in the face contemporary social and political conditions. Under the banner of critical pedagogy, Peter McLaren sees this current period of globalization as representing a worldwide historical crisis requiring a…

  5. Caught By Our Dangling Paradigms: How Our Metaphysical Assumptions Influence Gifted Education

    ERIC Educational Resources Information Center

    Johnson, Andrew

    2005-01-01

    Notions of intelligence and giftedness should keep pace with current knowledge of quantum physics and what is known abut the nature of reality. There are three perspectives as to the nature of reality. Materialistic monism views the universe as being made up of only matter and energy. Dualism views the universe as being made up of matter and…

  6. Energy, Metaphysics, and Space: Ernst Mach's Interpretation of Energy Conservation as the Principle of Causality

    NASA Astrophysics Data System (ADS)

    Guzzardi, Luca

    2014-06-01

    This paper discusses Ernst Mach's interpretation of the principle of energy conservation (EC) in the context of the development of energy concepts and ideas about causality in nineteenth-century physics and theory of science. In doing this, it focuses on the close relationship between causality, energy conservation and space in Mach's antireductionist view of science. Mach expounds his thesis about EC in his first historical-epistemological essay, Die Geschichte und die Wurzel des Satzes von der Erhaltung der Arbeit (1872): far from being a new principle, it is used from the early beginnings of mechanics independently from other principles; in fact, EC is a pre-mechanical principle which is generally applied in investigating nature: it is, indeed, nothing but a form of the principle of causality. The paper focuses on the scientific-historical premises and philosophical underpinnings of Mach's thesis, beginning with the classic debate on the validity and limits of the notion of cause by Hume, Kant, and Helmholtz. Such reference also implies a discussion of the relationship between causality on the one hand and space and time on the other. This connection plays a major role for Mach, and in the final paragraphs its importance is argued in order to understand his antireductionist perspective, i.e. the rejection of any attempt to give an ultimate explanation of the world via reduction of nature to one fundamental set of phenomena.

  7. Advertising, Desire, and the Unified Field: A Metaphysical Perspective on Advertising.

    ERIC Educational Resources Information Center

    Wesson, David A.

    Suggesting that ills said to be perpetrated by advertising are really attributes of a unified field of consciousness, this paper discusses the concept that advertising creates desire. The generally undisputed notion that advertising helps to create specific desires is distinguished from the criticism that advertising increases the level and…

  8. Physics and Metaphysics of Deterrence: The British Approach (Newport Paper, Number 8, December 1994)

    DTIC Science & Technology

    1994-12-01

    27. Ibid. 28. Freedman, Britain and Nuclear Weapons, p. 139. 29. Francis Williams, Twilight oj Empire: Memoirs oj Prime Minister Clement Attlee...White, "RAF Faces End to V-Bomber Saga ," FinaMdl Times (London) , 19 October 1993, p. 8. 156. Michael Evans, "Trident Threat Ousts New Nuclear

  9. The Phenomenon of the Home: Metaphysics of the Innermost (as Illustrated by the Modern Russian Culture)

    ERIC Educational Resources Information Center

    Shupletsova, Elena Zh.; Solodov, Andrei V.; Samoilov, Anton O.; Polyakov, Nikita ?.; Pyankova, Anastasia Yu.

    2016-01-01

    The relevance of the problem under study is based on the influence of the expanding globalization processes that affect the view of life of a modern man: the internal balance is lost due to feeling of chaos, rhythm of life and constant changes. In these conditions there is a tendency to de-humanize the living environment, depersonalization of…

  10. A new relative tumor sizing method in epi-metaphyseal osteosarcoma.

    PubMed

    Kim, Seung Hyun; Shin, Kyoo-Ho; Park, Eun Hae; Cho, Yong Jin; Park, Byoung-Kyu; Suh, Jin-Suck; Yang, Woo-Ick

    2015-04-15

    The goal of this study was to develop a new method for determining tumor size to predict prognosis with high performance in osteosarcoma. This study was approved by the institutional review board. We retrospectively reviewed 41 magnetic resonance (MR) images at diagnosis and 57 MR images after neoadjuvant chemotherapy from 59 patients with non-metastatic, high-grade extremity osteosarcoma, who had undergone surgery between October 1994 and October 2009. A new parameter of tumor axial ratio (TAR) was designed to normalize tumor size by dividing the absolute tumor axial size by the reference bone axial size (RBS) of the affected bone. RBS was defined using anatomical landmarks for each type of bone. Absolute tumor length (ATL), absolute tumor volume (ATV), and relative tumor volume (RTV) were comparatively analyzed. TAR was only significantly decreased after chemotherapy in the survival (P = 0.009) and metastasis-free (P = 0.018) group in the paired t-test. With the Kaplan-Meier method, significant differences in overall survival (log rank P = 0.004) and disease-free survival (Log Rank P = 0.009) were noted between decreased TAR after chemotherapy and increased TAR. After Cox regression analysis, TAR showed an odds ratios of 5.931 for survival (95% Confidence Interval [CI], 1.153-30.513) and 14.144 for metastasis (95% CI, 2.826-70.784), whereas ATL, ATV, and RTV showed no associations with these clinical variables. The AUC value of TAR was 0.713 (95% CI, 0.548 to 0.878) for survival and 0.759 (95% CI, 0.608 to 0.909) for metastasis. TAR is a novel sizing method with potential as a prognostic tool in osteosarcoma.

  11. Micromotion in the fracture healing of closed distal metaphyseal tibial fractures: A multicentre prospective study.

    PubMed

    Vicenti, G; Pesce, V; Tartaglia, N; Abate, A; Mori, C M; Moretti, B

    2014-12-01

    The dynamic locking screw (DLS) in association with minimally invasive plate osteosynthesis (MIPO) in a bridging construct for simple metadiaphyseal long bone fractures enables modulation of the rigidity of the system and facilitates the development of early and triplanar bone callus. Twenty patients affected by distal tibial fracture were treated with MIPO bridging technique and DLS at the proximal side of the fracture. Time of consolidation, quality of the reduction, complications and American Orthopaedic Foot and Ankle Society (AOFAS) score were monitored and the results compared with those from a control group treated with only standard screws on both fracture sides. Student t-test for independent samples was used for the comparison of means between the two groups. Chi-square test was used for the comparison of proportions. A multiple logistic regression model was constructed to assess the possible confounding effects. Performance was considered significant for p<0.05. The mean healing time was 17.6 ± 2.8 weeks in the group treated with standard screws and 13.5 ± 1.8 weeks in the group treated with DLS (t=5.5, p<0.0001). The DLS was associated with early healing and triplanar bone callus.

  12. Metaphysics and Methods in Moral Enquiry and Education: Some Old Philosophical Wine for New Theoretical Bottles

    ERIC Educational Resources Information Center

    Carr, David

    2014-01-01

    If we reject sentimentalist accounts of the nature of moral motivation and education, then we may regard some form of reason as intrinsic to any genuine moral response. The large question for moral education is therefore that of the nature of such reason--perhaps more especially of its status as knowledge. In this regard, there is evidence of some…

  13. Invited commentary: meta-physical activity and the search for the truth.

    PubMed

    Arem, Hannah; Keadle, Sarah Kozey; Matthews, Charles E

    2015-05-01

    Measurement error in self-reported data from questionnaires is a well-recognized challenge in studies of physical activity and health. In this issue of the Journal, Lim et al. (Am J Epidemiol. 2015;181(9):648-655) used data from accelerometers in a small measurement study to correct self-reported physical activity data from a larger study of adults from New York City and to develop an error correction model. They showed that correction of measurement error in self-reported physical activity levels strengthened the associations of physical activity with both obesity and diabetes by 30%-50% compared with using the self-reported questionnaire data alone. Thus, Lim et al. demonstrated a method to improve potentially biased estimates of the association between self-reported physical activity and disease. However, as this field develops, we feel it is important to call attention to a sometimes overlooked problem that occurs when comparing these instruments: Questionnaires and accelerometers are often calibrated (i.e., designed) to measure different types of physical activity, and accelerometers are still subject to measurement error. Thus, physical activity estimates corrected with an imperfect accelerometer measurement might over- or undercorrect the strength of the associations. We take this opportunity to further comment on physical activity measurement in epidemiologic studies and the implications for research.

  14. Phenomenology as research method or substantive metaphysics? An overview of phenomenology's uses in nursing.

    PubMed

    Earle, Vicki

    2010-10-01

    In exploring phenomenological literature, it is evident that the term 'phenomenology' holds rather different meanings depending upon the context. Phenomenology has been described as both a philosophical movement and an approach to human science research. The phenomenology of Husserl, Heidegger, Gadamer, and Merleau-Ponty was philosophical in nature and not intended to provide rules or procedures for conducting research. The Canadian social scientist, van Manen, however, introduced specific guidelines for conducting human science research, which is rooted in hermeneutic phenomenology and this particular method has been employed in professional disciplines such as education, nursing, clinical psychology, and law. The purpose of this paper is to explore the difference between the phenomenological method as described by van Manen and that of other philosophers such as Husserl, Heidegger, Gadamer, and Merleau-Ponty. In so doing, the author aims to address the blurred boundaries of phenomenology as a research method and as a philosophical movement and highlight the influence of these blurred boundaries on nursing knowledge development.

  15. Metaphysics and Methods in Moral Enquiry and Education: Some Old Philosophical Wine for New Theoretical Bottles

    ERIC Educational Resources Information Center

    Carr, David

    2014-01-01

    If we reject sentimentalist accounts of the nature of moral motivation and education, then we may regard some form of reason as intrinsic to any genuine moral response. The large question for moral education is therefore that of the nature of such reason--perhaps more especially of its status as knowledge. In this regard, there is evidence of some…

  16. Application of distal metaphyseal osteotomy for treatment of high intermetatarsal angle bunion deformities.

    PubMed

    Oloff, L M; Bocko, A P

    1998-01-01

    This is a retrospective study of 10 patients (13 feet) with moderate to severe hallux valgus who underwent a chevron or modified chevron osteotomy with multiple adjunctive soft-tissue releases for surgical treatment. Radiographic and subjective results were evaluated with an average follow-up of 24 months (range, 10-41). Preoperative criteria included an intermetatarsal (IM) angle of greater than 16 degrees (average of 18.4 degrees) and painful hallux valgus deformity. Average preop hallux abductus was 35.4 degrees (range, 25 degrees-48 degrees). The average reduction in the actual IM angle was (-) 5.2 degrees with a relative IM correction of (-) 11.6 degrees. Average postoperative hallux abductus angle was 7.0 degrees (range, 0 degree-22 degrees). Subjectively, all patients were satisfied with their results and stated they would have the procedure again. No complications were noted in this patient population, including, infection, avascular necrosis, hallux varus, and recurrence of deformity. The chevron osteotomy was found to be successful in this population with high intermetatarsal angles when appropriate consideration was given to correction of soft-tissue-deforming forces and contractures.

  17. Physiology as the antechamber to metaphysics: the young William James's hope for a philosophical psychology.

    PubMed

    Croce, P J

    1999-11-01

    In the 5 years before 1878, when his career in psychology was becoming established, William James wrote a series of notes and reviews assessing the work of many of the pioneers in the new field. Adopting a public and confident voice, even while he was privately still uncertain and searching, James criticized the dogmatism of positivist and idealist claims to the study of the human brain and mind. In his short writings of 1873-1877, James started to formulate his own middle path. His first steps on that path show that he did not reject either scientific or philosophic inquiry; instead, he viewed scientific knowledge as a way to understand philosophical questions more deeply. Saving his sharpest critiques for positivism, James endorsed scientific investigation without materialist assmptions. While his career in psychology was still only a hope, James treated science as a means toward humanist insight.

  18. The whole is more than the sum of its parts: Aristotle, metaphysical.

    PubMed

    Upton, Joseph; Janeka, Ivo; Ferraro, Nalton

    2014-01-01

    This phrase, a favorite of Dr. Joseph E. Murray, can be interpreted in many ways. Mathematically, the whole is equal to the sum of its parts, neither more nor less. Psychological Gestalt theory would maintain that the whole is something else or something different than the sum of its parts. Merely adding up the component parts is meaningless compared with the "part-whole" relationship (SYNERGETICS: Explorations of Thinking. MacMillan Publishing Co, Inc; 1975). Organizational pundits maintain that this principle describes the synergy, which exists between individuals working together in a cooperative effort. Collectively, they are able to achieve an outcome superior to that of 1 or 2 people working alone. This concept is vintage Joseph E. Murray. He was an integral part of the Peter Bent Brigham team, which transformed the dream of organ transplantation into clinical reality over 50 years ago. Although many advances in medicine are made by the serendipity of a prepared mind making a critical observation (Alexander Fleming and penicillin), individual brilliance (Judah Folkman and angiogenesis), or by technology (magnetic resonance imaging), most are achieved by groups of physicians and scientists working together. All have prepared minds. When the Peter Bent Brigham Hospital physicians and researchers at the Harvard Medical School dedicated all of their energy on solving the problems of end-stage renal disease, their effort was concentrated and primarily regional. Today, this cooperation is global, as communication has been facilitated by the Internet, iPhone, iPad, video conferencing, electronic libraries, and the like.

  19. [Critical analysis of the immunological self/non-self model and of its implicit metaphysical foundations].

    PubMed

    Pradeu, Thomas; Carosella, Edgardo D

    2004-05-01

    An examination of the concepts used in immunology prompts us to wonder about the origins and the legitimacy of the notions of self and non-self, which constitute the core of the dominant theoretical model in this science. All theoretical reflection concerning immunology must aim at determining a criterion of immunogenicity, that is, an operational definition of the conditions in which an immune reaction occurs or does not occur. By criticizing both conceptually and experimentally the self/non-self vocabulary, we can demonstrate the inaccuracy and even the inadequacy of the dichotomy of self/non-self. Accordingly, the self/non-self model must be reexamined, or even rejected. On the basis of this critique, we can suggest an alternative theoretical hypothesis for immunology, based on the notion of continuity. The 'continuity hypothesis' developed here attempts to give a criterion of immunogenicity that avoids the reproaches leveled at the self model.

  20. The problem with brain GUTs: conflation of different senses of "prediction" threatens metaphysical disaster.

    PubMed

    Anderson, Michael L; Chemero, Tony

    2013-06-01

    Clark appears to be moving toward epistemic internalism, which he once rightly rejected. This results from a double over-interpretation of predictive coding's significance. First, Clark argues that predictive coding offers a Grand Unified Theory (GUT) of brain function. Second, he over-reads its epistemic import, perhaps even conflating causal and epistemic mediators. We argue instead for a plurality of neurofunctional principles.

  1. Embodied free will beliefs: some effects of physical states on metaphysical opinions.

    PubMed

    Ent, Michael R; Baumeister, Roy F

    2014-07-01

    The present research suggests that people's bodily states affect their beliefs about free will. People with epilepsy and people with panic disorder, which are disorders characterized by a lack of control over one's body, reported less belief in free will compared to people without such disorders (Study 1). The more intensely people felt sexual desire, physical tiredness, and the urge to urinate, the less they believed in free will (Study 2). Among non-dieters, the more intensely they felt hunger, the less they believed in free will. However, dieters showed a trend in the opposite direction (Study 3).

  2. Phloem loading--not metaphysical, only complex: towards a unified model of phloem loading.

    PubMed

    Komor, E; Orlich, G; Weig, A; Köckenberger, W

    1996-08-01

    Phloem loading comprises the entire pathway of phloem-mobile solutes from their place of generation (or delivery) to the sieve tubes in a sequence of transport steps across or passing by several different cell types. Each of these steps can be classified as symplastic or apoplastic. The detailed anatomical-cytological work in the past ten years made clear that the symplastic continuity from mesophyll to sieve tubes may be very different for different plant species or even in different vein orders. Therefore data from one species are not transferable to another species and a well-rounded picture involving different experimental methods has to be aimed at for each species separately. The information obtained with the Ricinus seedling, where phloem loading and sieve tube sap analysis can be achieved relatively easily, is presented. The analysis of the radioactive labelling of sucrose from the sieve tubes of cotyledons, in which external and intracellular sucrose had been differently labelled, revealed that at sucrose concentrations close to the natural one, 50% of sucrose is loaded directly from the external medium. The other 50% is first taken up by mesophyll and then released for uptake into the sieve tubes. No bundle tissue works as obligate, intermediate sucrose storage. The apoplast therefore definitely serves as a transit reservoir for sucrose destined to be loaded into the sieve tubes. The sieve tube sap contains glycolytic metabolites at concentrations higher than found in the hypocotyl tissue, whereas the corresponding glycolytic enzymes are missing. It is concluded that the enzymes are sequestered in the companion cell or by parietal membrane stacks. Not only the sieve tubes but nearly all cotyledonary cells are equipped with a sucrose-H(+) symporter able to achieve sucrose accumulation and sensitive to inhibition by high salt concentrations or SH reagents. A cDNA clone coding for a sucrose carrier was isolated. It is transcribed at approximately the same level in most organs of the seedling and throughout the germination period. Leaves of adult Ricinus have significantly lower levels of this transcript. Recirculation of excess, phloem-delivered solutes from the sink back to the source is shown not only to be a common feature of long-distance transport, but the only way that an imbalance between supply to and consumption of nutrients in the sink can be adjusted in the source. It is a pathway by which sink activity regulates phloem loading. Non-invasive NMR imaging revealed the flow rates and flow speeds in phloem and xylem in the intact seedling and proved directly the existence of an internal circulating solution flow. A unified model of phloem loading is proposed, based on a pump-and-leak model, where active sucrose carriers (and other carriers) accumulate solutes in the sieve tubes with a concomitant build-up of pressure resulting in mass flow. Plasmodesmata are leaks (as are the transport carriers, too), slowing down the transport rate, but they also serve as diffusion channels for substances which are produced in the neighbouring cell. Therefore, compounds, which are not made in the sieve tubes themselves are translocated together with the bulk solution of sieve tube sap.

  3. Persons and death: what's metaphysically wrong with our current statutory definition of death?

    PubMed

    Lizza, J P

    1993-08-01

    This paper challenges the recommendations of 1981 President's Commission for the Study of Ethical Problems in Medicine and Biomedical and Behavioral Research that all jurisdictions in the United States should adopt the Uniform Determination of Death Act, which endorses a whole-brain, rather than a higher-brain, definition of death. I argue that the Commission was wrong to reject the "personhood argument" for the higher-brain definition on the grounds that there is no consensus among philosophers or the general population as to what constitutes "personhood". I claim that philosophers agree that some potential for cognitive function is necessary for personhood and that, when this is absent in cases of anencephaly and persistent vegetative state (PVS), the individual should be considered dead. I further argue that the lack of consensus among the general population is due in large measure to misunderstandings about the medical reality of PVS and beliefs influenced by feelings for a specific individual in PVS. I also examine and reject two tutorist arguments which have been used to support the Commission's position: that the higher-brain definition would threaten the severely senile and severely retarded, and that there are not currently adequate medical techniques for determining when all higher-brain activities have ceased.

  4. Analysis of the influence of a metha-type metaphysical stem on biomechanical parameters.

    PubMed

    Pozowski, Andrzej; Ścigała, Krzysztof; Kierzek, Andrzej; Paprocka-Borowicz, Małgorzata; Kuciel-Lewandowska, Jadwiga

    2013-01-01

    The full postoperative loading of the limb is possible if patients are properly selected and qualified for hip arthroplasty and the requirements as to the proper position of the metaphysial stem are met. The lack of precision, and patient qualification which does not satisfy the fixed criteria may result in stem setting inconsistent with the assumptions. An analysis based on the finite element method (FEM) will enable one to find out how to plan the magnitude of operated joint loading on the basis of the position of the stem in the postoperative radiograph. By analyzing the distribution of bone tissue deformations one can identify the zones where the spongy bone is overloaded and determine the strain level in comparison with the one determined for a model of the bone with the stem in proper position. On the basis of the results obtained one can estimate the range of loads for the operated limb, which will not result in the loss of the stem's primary stability prior to obtaining secondary stability through osteointegration. Moreover, an analysis of the formation of bone structures around the stem showed that the incorrect setting of a Metha-type stem may lead to the initiation of loosening.

  5. Heaps of health, metaphysical fitness: Ayurveda and the ontology of good health in medical anthropology.

    PubMed

    Alter, J S

    1999-02-01

    Because most scholars take it for granted that medicine is concerned with healing and problems of ill health, the way in which various medical systems define good health has not been adequately studied. Moreover, good health as such is usually regarded as a natural, normative state of being even by most medical anthropologists, who otherwise take a critical, relativist perspective on the subject of illness, pain, and disease. Using the case of Ayurvedic medicine, this article shows that there is a very different way of looking at the question of how health is embodied. This perspective is proactive and concerned with overall fitness rather than reactive and primarily concerned with either illness or disease. The argument presented here therefore seeks to go beyond the limiting--although extremely useful--orientation of remedial health care and suggest a radical challenge to some of the most basic ontological assumptions in the cross-cultural comparative study of medical systems.

  6. "Lekta" and Inner Form as Loci of Sense in Metaphysics of Language

    ERIC Educational Resources Information Center

    Lyanda-Geller, Olga V.

    2012-01-01

    This project seeks to answer the question whether it is possible to locate sense in language. I suggest that two theories seemingly unrelated to each other, one belonging to Ancient thought, and the other to modern Continental philosophy, give positive answer to the question. I focus on the concepts of "lekton" and "inner form"…

  7. The Metaphysics of Morris R. Cohen: From Realism to Objective Relativism.

    PubMed

    Cahoone, Lawrence

    2017-01-01

    Morris Cohen is mainly remembered as a philosopher of history and law, a friend of jurists (Oliver Wendell Holmes, Felix Frankfurter), and a teacher of more prominent philosophers (e.g., Ernest Nagel, Paul Weiss, Morton White). But his unique position as a student of the work of Russell and Peirce led him to make a distinctive contribution to the debate over realism in in the 1910s. Largely ignored and completely uncited, his early papers formulated what would later be called "objective relativism," influencing the later work of Columbia naturalism, hence American philosophy, from the 1940s to the 1960s.

  8. Listening to Children's Views of Spiritual and Metaphysical Concepts: A New Dimension to Educational Psychology Practice?

    ERIC Educational Resources Information Center

    Gersch, Irvine; Dowling, Fiona; Panagiotaki, Georgia; Potton, Anita

    2008-01-01

    Educational psychologists (EPs) have for many years been developing techniques for listening to children. The aim of the present research was to investigate ways of listening to the "spiritual" views of children in order to develop questions that educational psychologists might use as part of the assessment repertoire. The study explored…

  9. 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.

  10. Neonatal Death Dwarfism in a Girl with Distinctive Bone Dysplasia Compatible with Grebe Chondrodysplasia: Analysis by CT Scan-based Phenotype

    PubMed Central

    Al Kaissi, Ali; Chehida, Farid Ben; Ganger, Rudolf; Grill, Franz

    2014-01-01

    We report on a female fetus noted to have severe malformative type of skeletal dysplasia on ultrasonography done at 35 weeks gestation. The girl died shortly after birth. Clinical examination showed a fetus with severe dwarfism, extensive long and short bones, and bone deficiencies associated with multiple dislocations. Computed tomography (CT) scan-based phenotype showed a complex constellation of malformations consistent with the diagnosis of Grebe syndrome. Parents being first cousins (consanguineous marriage) strongly suggests autosomal recessive pattern of inheritance. To our knowledge, this is the first report of neonatal death dwarfism of Grebe syndrome analyzed by CT scan-based phenotype. PMID:25337439

  11. Lentiviral-mediated RNAi inhibition of Sbds in murine hematopoietic progenitors impairs their hematopoietic potential

    PubMed Central

    Rawls, Amy S.; Gregory, Alyssa D.; Woloszynek, Jill R.; Liu, Fulu

    2007-01-01

    Shwachman-Diamond syndrome (SDS) is a rare multisystem disorder characterized by exocrine pancreatic insufficiency, multilineage hematopoietic dysfunction, and metaphyseal chondrodysplasia. Bone marrow dysfunction is present in nearly all patients with SDS, with neutropenia being the most common abnormality. The majority of patients with SDS have mutations in the Shwachman Bodian Diamond syndrome (SBDS) gene. We have developed a strategy to examine the consequences of lentiviral-mediated RNA interference (RNAi) of Sbds on hematopoiesis. Here, we report that both Sbds RNA and protein expression can be efficiently inhibited in primary murine hematopoietic cells using lentiviral-mediated RNAi. Inhibition of Sbds results in a defect in granulocytic differentiation in vitro and impairs myeloid progenitor generation in vivo. In addition, short-term hematopoietic engraftment was impaired, which is due in part to reduced homing of hematopoietic progenitors to the bone marrow. Finally, we show that inhibition of Sbds is associated with a decrease in circulating B lymphocytes, despite evidence of normal B lymphopoiesis. These data provide the first evidence that loss of Sbds is sufficient to induce abnormalities in hematopoiesis. PMID:17638857

  12. Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia

    PubMed Central

    Huber, Céline; Faqeih, Eissa Ali; Bartholdi, Deborah; Bole-Feysot, Christine; Borochowitz, Zvi; Cavalcanti, Denise P.; Frigo, Amandine; Nitschke, Patrick; Roume, Joelle; Santos, Heloísa G.; Shalev, Stavit A.; Superti-Furga, Andrea; Delezoide, Anne-Lise; Le Merrer, Martine; Munnich, Arnold; Cormier-Daire, Valérie

    2013-01-01

    Opsismodysplasia (OPS) is a severe autosomal-recessive chondrodysplasia characterized by pre- and postnatal micromelia with extremely short hands and feet. The main radiological features are severe platyspondyly, squared metacarpals, delayed skeletal ossification, and metaphyseal cupping. In order to identify mutations causing OPS, a total of 16 cases (7 terminated pregnancies and 9 postnatal cases) from 10 unrelated families were included in this study. We performed exome sequencing in three cases from three unrelated families and only one gene was found to harbor mutations in all three cases: inositol polyphosphate phosphatase-like 1 (INPPL1). Screening INPPL1 in the remaining cases identified a total of 12 distinct INPPL1 mutations in the 10 families, present at the homozygote state in 7 consanguinous families and at the compound heterozygote state in the 3 remaining families. Most mutations (6/12) resulted in premature stop codons, 2/12 were splice site, and 4/12 were missense mutations located in the catalytic domain, 5-phosphatase. INPPL1 belongs to the inositol-1,4,5-trisphosphate 5-phosphatase family, a family of signal-modulating enzymes that govern a plethora of cellular functions by regulating the levels of specific phosphoinositides. Our finding of INPPL1 mutations in OPS, a severe spondylodysplastic dysplasia with major growth plate disorganization, supports a key and specific role of this enzyme in endochondral ossification. PMID:23273569

  13. Experimental metaphysics2 : The double standard in the quantum-information approach to the foundations of quantum theory

    NASA Astrophysics Data System (ADS)

    Hagar, Amit

    Among the alternatives of non-relativistic quantum mechanics (NRQM) there are those that give different predictions than quantum mechanics in yet-untested circumstances, while remaining compatible with current empirical findings. In order to test these predictions, one must isolate one's system from environmental induced decoherence, which, on the standard view of NRQM, is the dynamical mechanism that is responsible for the 'apparent' collapse in open quantum systems. But while recent advances in condensed-matter physics may lead in the near future to experimental setups that will allow one to test the two hypotheses, namely genuine collapse vs. decoherence, hence make progress toward a solution to the quantum measurement problem, those philosophers and physicists who are advocating an information-theoretic approach to the foundations of quantum mechanics are still unwilling to acknowledge the empirical character of the issue at stake. Here I argue that in doing so they are displaying an unwarranted double standard.

  14. The deep metaphysics of quantum gravity: The seventeenth century legacy and an alternative ontology beyond substantivalism and relationism

    NASA Astrophysics Data System (ADS)

    Slowik, Edward

    2013-11-01

    This essay presents an alternative to contemporary substantivalist and relationist interpretations of quantum gravity hypotheses by means of an historical comparison with the ontology of space in the seventeenth century. Utilizing differences in the spatial geometry between the foundational theory and the theory derived from the foundational, in conjunction with nominalism and platonism, it will be argued that there are crucial similarities between seventeenth century and contemporary theories of space, and that these similarities reveal a host of underlying conceptual issues that the substantival/relational dichotomy fails to distinguish.

  15. Metaphysics of the tea ceremony: a randomized trial investigating the roles of intention and belief on mood while drinking tea.

    PubMed

    Shiah, Yung-Jong; Radin, Dean

    2013-01-01

    This study explored whether drinking tea "treated" with good intentions would enhance mood more than drinking ordinary tea, under double-blind, randomized conditions. Each evening, for seven days in a row, volunteers recorded their mood using the Profile of Mood States (POMS) questionnaire. On days three, four, and five of the test, each participant drank 600 mL of oolong tea in the morning and again in the afternoon. One randomly assigned group blindly received tea that had been intentionally treated by three Buddhist monks; the other group blindly received untreated tea from the same source. On the last day of the test, each person indicated what type of tea he/she believed he/she had been drinking. Stratified, random sampling was used to assign 189 adults into two groups matched by age, gender, the psychological trait of neuroticism, and the amount of tea consumed on average per day. All participants were Taiwanese and lived in Kaohsiung, Taiwan, and the test was conducted over the course of one week to reduce mood fluctuations due to changes in local weather and other common influences. Those who drank treated tea showed a greater increase in mood than those who drank untreated tea (Cohen's d = 0.65, P = .02, two-tailed). Change in mood in those who believed that they were drinking treated tea was much better than those who did not believe (Cohen's d = 1.45, P = .00002, two-tailed). Tea treated with good intentions improved mood more than ordinary tea derived from the same source. Belief that one was drinking treated tea produced a large improvement in mood, but only if one was actually drinking the treated tea, indicating that belief and intentional enhancement interact. This also suggests that the esthetic and intentional qualities associated with the traditional tea ceremony may have subtle influences that extend beyond the ritual itself. © 2013 Elsevier Inc. All rights reserved.

  16. Finding the Right Kind of Awe and Wonder: The Metaphysical Potential of Religion to Ground an Environmental Ethic

    ERIC Educational Resources Information Center

    Ashley, Martin

    2006-01-01

    This paper argues that an anthropocentric fallacy permeates thinking within both technological and ecological approaches to environmentalism. In consequence, sustainable development is an incoherent concept through the weakness of its anthropocentric ethical grounding. Using the Judaeo-Christian tradition as an example, this paper examines the…

  17. Nonunion in a distal radius metaphyseal fracture in a child: Role of intact periosteal sleeve in management

    PubMed Central

    Sivashanmugam, Raju; Vijay, Sriram; Balakumar, Balasubramanian

    2015-01-01

    We present an adolescent with distal radius nonunion following an open fracture and failed surgery which eventually united when the length and stability was restored for eight weeks duration. The intact periosteal sleeve at the nonunion site formed new bone when its tension was restored by gradual differential distraction. This case report highlights the possibility of stimulating bony union in an established atrophic nonunion by distracting the minimally disturbed soft tissue and thick osteogenic periosteal envelope in the paediatric age group. PMID:25593362

  18. Energy, Metaphysics, and Space: Ernst Mach's Interpretation of Energy Conservation as the Principle of Causality

    ERIC Educational Resources Information Center

    Guzzardi, Luca

    2014-01-01

    This paper discusses Ernst Mach's interpretation of the principle of energy conservation (EC) in the context of the development of energy concepts and ideas about causality in nineteenth-century physics and theory of science. In doing this, it focuses on the close relationship between causality, energy conservation and space in Mach's…

  19. [Osteoconductive behaviour of beta-tricalcium phosphate ceramics in osteoporotic, metaphyseal bone defects of the distal radius].

    PubMed

    Hainich, J; von Rechenberg, B; Jakubietz, R G; Jakubietz, M G; Giovanoli, P; Grünert, J G

    2014-02-01

    Surgical treatment of osteoporotic distal radius fractures with locking plates does not completely prevent loss of reduction. Additional bone deficit stabilisation with the use of bone substitute materials is receiving increased attention. Most knowledge on the in vivo behavior of bone substitutes originates from a small number of animal models after its implantation in young, good vascularized bone. This paper investigates the osteoconductivity, resorption and biocompatibility of beta-tricalcium phosphate as a temporary bone replacement in osteoporotic type distal radius fractures. 15 bone samples taken from the augmented area of the distal radius of elderly people during metal removal were examined. The material was found to be osteoconductive, good degradable, and biocompatible. Degrading process and remodelling to woven bone seem to require more time than in available comparative bioassays. The material is suitable for temporary replacement of lost, distal radius bone from the histological point of view. © Georg Thieme Verlag KG Stuttgart · New York.

  20. “Sandwich” Plating for Intra-articular Distal Radius Fractures with Volar and Dorsal Metaphyseal Comminution

    PubMed Central

    Kamath, Atul F.; Makhni, Eric; Jean-Gilles, Jerome; Zurakowski, David

    2007-01-01

    Introduction Intra-articular distal radius fractures with volar and dorsal comminution present a special challenge to the hand surgeon. Methods Ten patients formed the study cohort. All plates were low profile and stainless steel. Radiographic parameters, range of motion, and strength compared to the uninjured side were recorded. Functional outcome was evaluated by Disabilities of the Arm, Shoulder and Hand (DASH) questionnaire and Gartland and Werley scoring system. Results Median age at surgery was 58 years (range, 24 to 86). Mean follow-up was 17 months (range, 12 to 28). According to the AO classification system, there were three type C2 and seven type C3 fractures. Median preoperative dorsal angulation was 24 deg; median postoperative dorsal angulation was 3 deg. Eighty percent (8) of the fractures also had an intra-articular step-off or gap, all of which were corrected to neutral by the procedure. Compared with the contralateral side, mean extension and flexion were 73 and 75%, respectively, pronation and supination were 95 and 88%, respectively, and grip strength and thumb pinch were 72 and 87%, respectively. Mean postoperative DASH score was 16 points, and 70% (7) of the patients had Gartland and Werley scores of good or excellent. None of the patients needed to have their plates removed, and no extensor tendon rupture was reported. Conclusions The “sandwich” plating technique is an effective method of regaining near-anatomic reconstruction of intra-articular, volarly and dorsally comminuted distal radius fractures. Results from this study demonstrate that patients can expect to regain about 80% of their range of motion and strength. Moreover, 70% of the patients will have good to excellent functional outcomes. This is the first study to examine range of motion and functional outcome of low-profile “sandwich” plating without plate removal. PMID:18780121

  1. Establishing a Democratic Religion: Metaphysics and Democracy in the Debates over the President's Commission on Higher Education

    ERIC Educational Resources Information Center

    Schrum, Ethan

    2007-01-01

    World War II stands as a defining moment for American higher education. During the crisis of international relations that existed by the late 1930s, American thinkers of various stripes felt compelled to mobilize the country's intellectual and educational resources in defense of democracy, thus creating "a great ideological revival of democracy…

  2. Un-thought out metaphysics in analytical psychology: a critique of Jung's epistemological basis for psychic reality.

    PubMed

    Brooks, Robin McCoy

    2011-09-01

    The author investigates the relation of Kant, Schopenhauer and Heidegger to Jung's attempts to formulate theory regarding the epistemological conundrum of what can and what cannot be known and what must remain uncertain. Jung's ambivalent use and misuse of Kant's division of the world into phenomenal and noumenal realms is highlighted in discussion of concepts such as the psychoid archetype which he called 'esse in anima' and his use of Schopenhauer's concept of 'will' to justify a transcendence of the psyche/soma divide in a postulation of a 'psychoid' realm. Finally, the author describes Jung's reaction to Heidegger's theories via his assertion that Heidegger's 'pre-given world design' was an alternate formulation of his concept of the archetypes. An underlying theme of the paper is a critique of Jung's foundationalism which perpetuates the myth of an isolated mind. This model of understanding subjectivity is briefly contrasted with Heidegger's 'fundamental ontology' which focuses on a non-Cartesian 'understanding' of the 'presencing of being' in everyday social and historical contexts.

  3. Energy, Metaphysics, and Space: Ernst Mach's Interpretation of Energy Conservation as the Principle of Causality

    ERIC Educational Resources Information Center

    Guzzardi, Luca

    2014-01-01

    This paper discusses Ernst Mach's interpretation of the principle of energy conservation (EC) in the context of the development of energy concepts and ideas about causality in nineteenth-century physics and theory of science. In doing this, it focuses on the close relationship between causality, energy conservation and space in Mach's…

  4. Establishing a Democratic Religion: Metaphysics and Democracy in the Debates over the President's Commission on Higher Education

    ERIC Educational Resources Information Center

    Schrum, Ethan

    2007-01-01

    World War II stands as a defining moment for American higher education. During the crisis of international relations that existed by the late 1930s, American thinkers of various stripes felt compelled to mobilize the country's intellectual and educational resources in defense of democracy, thus creating "a great ideological revival of democracy…

  5. Idiosyncratic reality claims, relaxation dispositions, and ABC relaxation theory: happiness, literal christianity, miraculous powers, metaphysics, and the paranormal.

    PubMed

    Smith, Jonathan C; Karmin, Aaron D

    2002-12-01

    This study examined idiosyncratic reality claims, that is, irrational or paranormal beliefs often claimed to enhance relaxation and happiness and reduce stress. The Smith Idiosyncratic Reality Claims Inventory and the Smith Relaxation Dispositions Inventory (which measures relaxation and stress dispositions, or enduring states of mind frequently associated with relaxation or stress) were given to 310 junior college student volunteers. Principal components factor analysis with varimax rotation identified five idiosyncratic reality claim factors: belief in Literal Christianity; Magic; Space Aliens: After Death experiences; and Miraculous Powers of Meditation, Prayer, and Belief. No factor correlated with increased relaxation dispositions Peace, Energy, or Joy, or reduced dispositional somatic stress, worry, or negative emotion on the Smith Relaxation Dispositions Inventory. It was concluded that idiosyncratic reality claims may not be associated with reported relaxation, happiness, or stress. In contrast, previous research strongly supported self-affirming beliefs with few paranormal assumptions display such an association.

  6. Sibs with mental retardation, supraorbital sclerosis, and metaphyseal dysplasia: frontometaphyseal dysplasia, craniometaphyseal dysplasia, or a new syndrome?

    PubMed Central

    Reardon, W; Hall, C M; Dillon, M J; Baraitser, M

    1991-01-01

    A brother and sister are presented with unusual facies, bilateral mixed hearing loss, mental retardation, and widespread radiological abnormalities. The clinical and radiological evidence for and against the two most likely diagnoses of frontometaphyseal dysplasia and craniometaphyseal dysplasia is considered. Images PMID:1956063

  7. Shwachman-Diamond syndrome: first molecular diagnosis in a Brazilian child.

    PubMed

    Alves, Cresio; Fernandes, Julia Constança; Sampaio, Silvana; Paiva, Raquel de Melo Alves; Calado, Rodrigo Tocantins

    2013-01-01

    Herein the first molecular diagnosis of a Brazilian child with Shwachman-Diamond Syndrome is reported. A 6-year-old boy was diagnosed with cystic fibrosis at the age of 15 months due to recurrent respiratory infections, diarrhea and therapeutic response to pancreatic enzymes. Three sweat tests were negative. At the age of 5 years, he began to experience pain in the lower limbs, laxity of joints, lameness and frequent falls. A radiological study revealed metaphyseal chondrodysplasia. A complete blood cell count showed leukopenia (leukocytes: 3.1-3.5 x 10(3)/µL), neutropenia (segmented neutrophils: 15-22%), but normal hemoglobin, hematocrit and platelet count. A molecular study revealed biallelic mutations in the Shwachman-Bodian-Diamond Syndrome gene (183-184TA-CT K62X in exon 2 and a 258+2T-C transition) confirming the diagnosis of Shwachman-Diamond Syndrome. A non-pathologic, silent nucleotide A to G transition at position 201 was also found in heterozygosis in the Shwachman-Bodian-Diamond Syndrome gene. This is the first report to describe a Brazilian child with molecular diagnosis of Shwachman-Diamond Syndrome, a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, intermittent or persistent neutropenia and skeletal changes. Other characteristics include immune system, hepatic and cardiac changes and predisposition to leukemia. Recurrent bacterial, viral and fungal infections are common. The possibility of Shwachman-Diamond Syndrome should be kept in mind when investigating children with a diagnosis of cystic fibrosis and normal sweat tests.

  8. Shwachman-Diamond syndrome: first molecular diagnosis in a Brazilian child

    PubMed Central

    Alves, Cresio; Fernandes, Julia Constança; Sampaio, Silvana; Paiva, Raquel de Melo Alves; Calado, Rodrigo Tocantins

    2013-01-01

    Herein the first molecular diagnosis of a Brazilian child with Shwachman-Diamond Syndrome is reported. A 6-year-old boy was diagnosed with cystic fibrosis at the age of 15 months due to recurrent respiratory infections, diarrhea and therapeutic response to pancreatic enzymes. Three sweat tests were negative. At the age of 5 years, he began to experience pain in the lower limbs, laxity of joints, lameness and frequent falls. A radiological study revealed metaphyseal chondrodysplasia. A complete blood cell count showed leukopenia (leukocytes: 3.1-3.5 x 103/µL), neutropenia (segmented neutrophils: 15-22%), but normal hemoglobin, hematocrit and platelet count. A molecular study revealed biallelic mutations in the Shwachman-Bodian-Diamond Syndrome gene (183-184TA-CT K62X in exon 2 and a 258+2T-C transition) confirming the diagnosis of Shwachman-Diamond Syndrome. A non-pathologic, silent nucleotide A to G transition at position 201 was also found in heterozygosis in the Shwachman-Bodian-Diamond Syndrome gene. This is the first report to describe a Brazilian child with molecular diagnosis of Shwachman-Diamond Syndrome, a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, intermittent or persistent neutropenia and skeletal changes. Other characteristics include immune system, hepatic and cardiac changes and predisposition to leukemia. Recurrent bacterial, viral and fungal infections are common. The possibility of Shwachman-Diamond Syndrome should be kept in mind when investigating children with a diagnosis of cystic fibrosis and normal sweat tests. PMID:24106450

  9. [Parathyroid hormone receptors: from cloning to physiological, physiopathological and clinical implications].

    PubMed

    Mannstadt, M; Drüeke, T B

    1997-01-01

    It has long been known that parathyroid hormone (PTH) exerts its effects on target tissues via its binding to a membrane receptor. Recently, several types of PTH receptors have been identified. The first receptor which has been cloned and well characterized is "PTH/PTHrP receptor-1". It is activated not only by PTH, but also by PTH-related peptide (PTHrP), via a signal transduction system involving G-proteins, adenylate cyclase and phospholipase C. It is expressed in many tissues, in addition to kidney and bone. The results of recent studies are suggestive of the existence of additional PTH receptors. One or several receptors are probably expressed in the keratinocyte and the glomerular podocyte which are not identical with PTH/ PTHrP receptor-1. A third receptor, which has been cloned recently and called "PTH2 receptor", recognizes solely PTH. It is expressed in brain, pancreas, testis and placenta. Its function is unknown. There is also evidence for a fourth receptor, called "C-PTH receptor", recognizing C-terminal PTH fragments which are generally considered to be biologically inactive. The regulation of these receptors is subject to intensive research. Down-regulation of PTH/PTHrP receptor-1 mRNA expression could explain the well-known resistance to the action of PTH in chronic renal failure. In contrast, the receptor mRNA is up-regulated in vitamin D deficiency, despite a similar tissue resistance to PTH. A mutation of PTH/PTHrP receptor-1 causes Jansen-type metaphyseal chondrodysplasia. However, no alteration of the PTH/PTHrP receptor-1 gene structure has been found in type 1b pseudohypoparathyroidism.

  10. Bone remodeling after total hip arthroplasty with a short stemmed metaphyseal loading implant: finite element analysis validated by a prospective DEXA investigation.

    PubMed

    Lerch, Matthias; Kurtz, Agnes; Stukenborg-Colsman, Christina; Nolte, Ingo; Weigel, Nelly; Bouguecha, Anas; Behrens, Bernd A

    2012-11-01

    In total hip arthroplasty (THA), short stemmed cementless implants are used because they are thought to stimulate physiological bone remodeling and reduce stress shielding. We performed a numerical investigation on bone remodeling after implantation of a specific short stemmed implant using finite element analysis (FEA). Overall bone mass loss was 2.8% in the entire femur. Bone mass decrease was mostly found in the proximal part of the calcar and in the greater trochanter due to the vast cross section of the implant, probably leading to stress shielding. In the diaphysis, no change in the apparent bone density was proven. The assumptions made agreed well with bone remodeling data from THA recipients who underwent dual-energy X-ray absorptiometry. However, the clinical investigation revealed a bone mass increase in the minor trochanter region that was less pronounced in the FEA. Further comparisons to other stem designs must be done to verify if the relative advantages of the investigated implant can be accepted.

  11. Memories in photography and rebirth: toward a psychosocial therapy of the metaphysics of reincarnation among traditional Esan people of Southern Nigeria.

    PubMed

    Ukpokolo, Isaac E

    2012-01-01

    The aim of this article is to show that beyond the need for the justification of the belief in reincarnation, beyond the quest for evidences to prove its reality or otherwise, the idea of rebirth has a pragmatic role in the cultures where it is held. Using the theorization of rebirth among the Esan people of southern Nigeria as a pilot, it asserts that the idea of rebirth plays a psychosocial, therapeutic function of comfort and healing for those traumatized by the death of a loved one. This, it shall be seen, is similar to, even more reliable than, the role of photography in preserving cherished memories. The article does not, therefore, mean to join issues in the myth-reality or truth-falsehood debate on rebirth among scholars but attempts to establish the role of reincarnation, like photography, in bringing the past into the present.

  12. IGF-I Signaling in Osterix-Expressing Cells Regulates Secondary Ossification Center Formation, Growth Plate Maturation, and Metaphyseal Formation During Postnatal Bone Development.

    PubMed

    Wang, Yongmei; Menendez, Alicia; Fong, Chak; ElAlieh, Hashem Z; Kubota, Takuo; Long, Roger; Bikle, Daniel D

    2015-12-01

    To investigate the role of IGF-I signaling in osterix (OSX)-expressing cells in the skeleton, we generated IGF-I receptor (IGF-IR) knockout mice ((OSX)IGF-IRKO) (floxed-IGF-IR mice × OSX promoter-driven GFP-labeled cre-recombinase [(OSX)GFPcre]), and monitored postnatal bone development. At day 2 after birth (P2), (OSX)GFP-cre was highly expressed in the osteoblasts in the bone surface of the metaphysis and in the prehypertrophic chondrocytes (PHCs) and inner layer of perichondral cells (IPCs). From P7, (OSX)GFP-cre was highly expressed in PHCs, IPCs, cartilage canals (CCs), and osteoblasts (OBs) in the epiphyseal secondary ossification center (SOC), but was only slightly expressed in the OBs in the metaphysis. Compared with the control mice, the IPC proliferation was decreased in the (OSX)IGF-IRKOs. In these mice, fewer IPCs invaded into the cartilage, resulting in delayed formation of the CC and SOC. Immunohistochemistry indicated a reduction of vessel number and lower expression of VEGF and ephrin B2 in the IPCs and SOC of (OSX)IGF-IRKOs. Quantitative real-time PCR revealed that the mRNA levels of the matrix degradation markers, MMP-9, 13 and 14, were decreased in the (OSX)IGF-IRKOs compared with the controls. The (OSX)IGF-IRKO also showed irregular morphology of the growth plate and less trabecular bone in the tibia and femur from P7 to 7 weeks, accompanied by decreased chondrocyte proliferation, altered chondrocyte differentiation, and decreased osteoblast differentiation. Our data indicate that during postnatal bone development, IGF-I signaling in OSX-expressing IPCs promotes IPC proliferation and cartilage matrix degradation and increases ephrin B2 production to stimulate vascular endothelial growth factor (VEGF) expression and vascularization. These processes are required for normal CC formation in the establishment of the SOC. Moreover, IGF-I signaling in the OSX-expressing PHC is required for growth plate maturation and osteoblast differentiation in the development of the metaphysis.

  13. Modified metaphyseal-loading anterolaterally flared anatomic femoral stem: five- to nine-year prospective follow-up evaluation and results of three-dimensional finite element analysis.

    PubMed

    Kokubo, Yasuo; Uchida, Kenzo; Oki, Hisashi; Negoro, Kohei; Nagamune, Kouki; Kawaguchi, Shogo; Takeno, Kenichi; Yayama, Takafumi; Nakajima, Hideaki; Sugita, Daisuke; Yoshida, Ai; Baba, Hisatoshi

    2013-02-01

    We have designed a proximal-fitting, anterolaterally flared, arc-deposit hydroxyapatite-coated anatomical femoral stem (FMS-anatomic stem; KYOCERA Medical, Osaka, Japan) for cementless total hip arthroplasty (THA) for Japanese patients with dysplastic hip osteoarthritis, using a nonlinear three-dimensional finite element analysis simulating loading conditions. The Anatomic Fit stem was modified in the region of the arc-sprayed surface, to allow more proximal appearance of spot welds. The aim of the present study was to analyze the clinical and radiographic outcomes of patients who underwent THA using this stem. We reviewed 73 consecutive patients (79 hips; 13 men 16 hips; 60 women 63 hips; age at surgery, 57.6 years, range, 35-78) who underwent cementless THA using the Anatomic Fit stem, at a follow-up period of 7.1 years (range, 5.1-9.4). Harris Hip score improved from 40.7 ± 17.1 before surgery to 91.0 ± 5.2 points at follow-up. The 7.1-year stem survival rate was 100%. Radiographs at follow-up confirmed the stability of the femoral stems within the femoral canal in all cases, with sufficient bone ingrowth. None of the patients had subsidence of the stem exceeding 2.0 mm within the femoral canal or changes in varus or valgus position of more than 2.0°. The Anatomic Fit stem provided excellent results. The nonlinear three-dimensional finite element analysis demonstrated that the stem-bone relative motion was 10 µm at the proximal end of the stem and proximal load transfer. Our analysis confirmed reduced radiolucency around the stem, minimal subsidence, appropriate stress shielding, and promising medium-term stability within the femoral canal.

  14. Metaphyseal screw augmentation of the LISS-PLT plate with polymethylmethacrylate improves angular stability in osteoporotic proximal third tibial fractures: a biomechanical study in human cadaveric tibiae.

    PubMed

    Goetzen, Michael; Nicolino, Tomas; Hofmann-Fliri, Ladina; Blauth, Michael; Windolf, Markus

    2014-05-01

    The incidence of osteoporotic proximal tibial fractures has increased during the last 2 decades. A promising approach in osteoporotic fracture fixation is polymethylmethacrylate-based cement augmentation of implants to gain better implant purchase in the bone. This study investigates the biomechanical benefits of screw augmentation in less invasive stabilization system-proximal lateral tibial (LISS-PLT) plates in cadaveric extraarticular comminuted proximal tibial fractures (OTA-41-A3.3). Standardized extraarticular proximal tibial fractures were stabilized with the LISS-PLT plate in 6 paired osteoporotic cadaveric tibiae. Bone mineral density was measured with high-resolution, quantitative computed tomography scans to identify bone quality. In the augmented group, the 5 proximal screws of the LISS-PLT plate were augmented with 1 mL of bone cement each, whereas the contralateral tibia was instrumented conventionally as the control. Cyclic axial loading was applied to each specimen with a starting load of 150 N, using a ramp of 0.05 N per cycle to 10-mm axial displacement. Varus displacement was identified from anterior-posterior radiographs. Bone mineral density showed no significant difference between the 2 groups (P = 0.47). The nonaugmented group reached 9417 load cycles (SD 753) until failure, compared with 14,792 load cycles (SD 2088) in the augmented group (P = 0.002). In the early-onset failure (deformation at 8250 load cycles), varus displacement was significantly smaller in the augmented group (0.46 degrees, SD 0.6) than in the nonaugmented group (3.23 degrees, SD 1.7) (P = 0.01). This biomechanical study showed that cement augmentation of the LISS-PLT plate screws in osteoporotic proximal extraarticular tibial fractures significantly lowers the propensity toward screw migration and secondary varus displacement.

  15. A comparison of a conventional versus a short, anatomical metaphyseal-fitting cementless femoral stem in the treatment of patients with a fracture of the femoral neck.

    PubMed

    Kim, Y-H; Oh, J-H

    2012-06-01

    We compared the clinical and radiological outcomes of two cementless femoral stems in the treatment of patients with a Garden III or IV fracture of the femoral neck. A total of 70 patients (70 hips) in each group were enrolled into a prospective randomised study. One group received a short anatomical cementless stem and the other received a conventional cementless stem. Their mean age was 74.9 years (50 to 94) and 76.0 years (55 to 96), respectively (p = 0.328). The mean follow-up was 4.1 years (2 to 5) and 4.8 years (2 to 6), respectively. Perfusion lung scans and high resolution chest CTs were performed to detect pulmonary microemboli. At final follow-up there were no statistically significant differences between the short anatomical and the conventional stems with regard to the mean Harris hip score (85.7 (66 to 100) versus 86.5 (55 to 100); p = 0.791), the mean Western Ontario and McMaster Universities Osteoarthritis Index (17 (6 to 34) versus 16 (5 to 35); p = 0.13) or the mean University of California, Los Angeles activity score (5 (3 to 6) versus 4 (3 to 6); p = 0.032). No patient with a short stem had thigh pain, but 11 patients (16%) with a conventional stem had thigh pain. No patients with a short stem had symptomatic pulmonary microemboli, but 11 patients with a conventional stem had pulmonary microemboli (symptomatic in three patients and asymptomatic in eight patients). One hip (1.4%) in the short stem group and eight (11.4%) in the conventional group had an intra-operative undisplaced fracture of the calcar. No component was revised for aseptic loosening in either group. One acetabular component in the short stem group and two acetabular components in the conventional stem group were revised for recurrent dislocation. Our study demonstrated that despite the poor bone quality in these elderly patients with a fracture of the femoral neck, osseo-integration was obtained in all hips in both groups. However, the incidence of thigh pain, pulmonary microemboli and peri-prosthetic fracture was significantly higher in the conventional stem group than in the short stem group.

  16. On the Relationship between the Higher-Order Factor Model and the Hierarchical Factor Model.

    ERIC Educational Resources Information Center

    Yung, Yiu-Fai; Thissen, David; McLeod, Lori D.

    1999-01-01

    Explores the relationship between the higher-order factor model and the hierarchical factor model and shows that the Schmid-Leiman transformation process (J. Schmid and J. Leiman, 1957) produces constrained hierarchical factor solutions. Shows that the two models are not mathematically equivalent unless appropriate direct effects are added. (SLD)

  17. Philosophy for Children Meets the Art of Living: A Holistic Approach to an Education for Life

    ERIC Educational Resources Information Center

    D'Olimpio, Laura; Teschers, Christoph

    2016-01-01

    This article explores the meeting of two approaches towards philosophy and education: the philosophy for children (P4C) approach advocated by Lipman and others, and Schmid's (2000a) philosophical concept of" Lebenskunst" (the art of living). Schmid explores the concept of the beautiful or good life by asking what is necessary for each…

  18. Raine syndrome: expanding the radiological spectrum.

    PubMed

    Koob, Mériam; Doray, Bérénice; Fradin, Mélanie; Astruc, Dominique; Dietemann, Jean-Louis

    2011-03-01

    We describe ante- and postnatal imaging of a 1-year-old otherwise healthy girl with Raine syndrome. She presented with neonatal respiratory distress related to a pyriform aperture stenosis, which was diagnosed on CT. Signs of chondrodysplasia punctata, sagittal vertebral clefting and intervertebral disc and renal calcifications were also found on imaging. This new case confirms that Raine syndrome is not always lethal. The overlapping imaging signs with chondrodysplasia punctata and the disseminated calcifications give new insights into its pathophysiology.

  19. Visceral and subcutaneous adipose tissue express and secrete functional alpha2hsglycoprotein (fetuin a) especially in obesity.

    PubMed

    Pérez-Sotelo, Diego; Roca-Rivada, Arturo; Larrosa-García, María; Castelao, Cecilia; Baamonde, Iván; Baltar, Javier; Crujeiras, Ana Belen; Seoane, Luisa María; Casanueva, Felipe F; Pardo, María

    2017-02-01

    The secretion of the hepatokine alpha-2-Heremans-Schmid glycoprotein/Fetuin A, implicated in pathological processes including systemic insulin resistance, by adipose tissue has been recently described. Thus, we have recently identified its presence in white adipose tissue secretomes by mass spectrometry. However, the secretion pattern and function of adipose-derived alpha-2-Heremans-Schmid glycoprotein are poorly understood. The aim of this study is to evaluate the expression and secretion of total and active phosphorylated alpha-2-Heremans-Schmid glycoprotein by adipose tissue from visceral and subcutaneous localizations in animals at different physiological and nutritional status including anorexia and obesity. Alpha-2-Heremans-Schmid glycoprotein expression and secretion in visceral adipose tissue and subcutaneous adipose tissue explants from animals under fasting and exercise training, at pathological situations such as anorexia and obesity, and from human obese individuals were assayed by immunoblotting, quantitative real-time polymerase chain reaction and enzyme-linked immunosorbent assay. We reveal that visceral adipose tissue expresses and secretes more alpha-2-Heremans-Schmid glycoprotein than subcutaneous adipose tissue, and that this secretion is diminished after fasting and exercise training. Visceral adipose tissue from anorectic animals showed reduced alpha-2-Heremans-Schmid glycoprotein secretion; on the contrary, alpha-2-Heremans-Schmid glycoprotein is over-secreted by visceral adipose tissue in the occurrence of obesity. While secretion of active-PhophoSer321α2HSG by visceral adipose tissue is independent of body mass index, we found that the fraction of active-alpha-2-Heremans-Schmid glycoprotein secreted by subcutaneous adipose tissue increments significantly in situations of obesity. Functional studies show that the inhibition of adipose-derived alpha-2-Heremans-Schmid glycoprotein increases insulin sensitivity in differentiated adipocytes. In

  20. [Improved osseointegration of titanium implants of different surface characteristics by the use of bone morphogenetic protein (BMP-3): an animal study performed at the metaphyseal bone bed in dogs].

    PubMed

    Hartwig, C-H; Esenwein, S A; Pfund, A; Küsswetter Dagger, W; Herr, G

    2003-01-01

    Aim of this study was to determine whether coating of titanium implants of various surfaces with BMP-3 would improve the osseous integration of the implants into the orthotopic bony implant bed. In this experimental study 190 micro g per implant of highly purified bone morphogenetic protein 3 (BMP-3) precipitate isolated from porcine bone were available for the coating of each of 24 cylindrical test implants (12 with hydroxyapatite and 12 with plasmapore surface). The remaining 24 test implants with the same surface makeup served as negative controls. Implantation sites were randomly assigned for the 4 versions of implants available and all implants were embedded into the medial or lateral femoral condyle of both legs of 12 German shepherds. The drilling holes were performed in such a matter that after embedding the cylindrical devices a gap of 1 mm surrounding the implants remained. A biomechanical testing and histological evaluation was performed on the explants 42 days after surgery. In biomechanical testing forces necessary to extract the implants from the explanted bones in BMP-3 coated devices were up to 70% higher compared to the ones in the non-coated reference groups. Quantitative histomorphometric examination showed in BMP-3-coated implants an increasing formation of new bone close to their own surface (gap-healing) which was higher than in the corresponding non-coated controls (hydroxyapatite + BMP-3 32.1%, hydroxyapatite controls 20.3%, plasmapore + BMP-3 30.2%, plasmapore controls 13.1%). The extent of direct bone implant contact as percentiles of the corresponding implants perimeter (ongrowth) was also significantly higher in the BMP-3-coated implants compared to the non-coated controls (hydroxyapatite + BMP-3 37.7%, hydroxyapatite controls 22.4%, plasmapore + BMP-3 15.3%, plasmapore controls 6.4%). In this study it was proven the first time that implants of various surface textures as used in endoprosthetics are able to be coated by the osteoinductive growth factor BMP-3. In that way metallic implants can achieve osteogenic properties which have positive effects in osseointegration.

  1. Patients' 'thingification', unexplained symptoms and response-ability in the clinical context: in response to 'Patients' substantialization of disease, the hybrid symptom and the metaphysical care', by Alexandra Parvan.

    PubMed

    Eriksen, Thor Eirik; Kirkengen, Anna Luise

    2016-08-01

    The types of diseases, or categories of suffering, referred to as medically unexplained symptoms or syndromes (MUS) are the focus for the following commentary. Such cases seem to invite reflection. The very nature of such complex patterns of disease and suffering raises a number of fundamental epistemological and ontological issues. Furthermore, such health challenges can serve as the basis for an exploration of how the suffering person as well as the medical caretaker comes to grip with disease, incapacitation or suffering. We have structured our comments into two parts: first, we will describe medically unexplained health problems as the background for an inquiry into a process wherein patients reify their suffering in order to meet their doctors on equal terms, which carries a potential for alienation. Second, we will reflect on Alexandra Parvan's text as regards patients' 'substantialization' of their disease, the resulting 'hybrid symptom' and a proposed model for care and healing. © 2015 John Wiley & Sons, Ltd.

  2. Machine on Trial

    DTIC Science & Technology

    2012-06-01

    munitions. 44 Immanuel Kant , Fundamental Principals of the Metaphysic of Morals, 1785, as reprinted in Matthew Stapleton, The Project Gutenberg...support/ k/ kantimma/ kantimmaetext04ikfpm10iliad.pdf (accessed April 21, 2012). 45 Immanuel Kant , Fundamental Principals of the Metaphysic of Morals, 6...46 Immanuel Kant , Fundamental Principals of the Metaphysic of Morals, 7. Kant argues that

  3. Human Leverage: Hostage-taking as a Tactic in Insurgency

    DTIC Science & Technology

    2005-01-01

    25 Pierre Salinger , America Held Hostage: The Secret Negotiations (New York...December 2004. Salinger , Pierre. America Held Hostage. New York: Doubleday, 1981. Schmid, Alex and Janny de Graaf. Violence as

  4. SPERM RNA AMPLIFICATION FOR GENE EXPRESSION PROFILING BY DNA MICROARRAY TECHNOLOGY

    EPA Science Inventory

    Sperm RNA Amplification for Gene Expression Profiling by DNA Microarray Technology
    Hongzu Ren, Kary E. Thompson, Judith E. Schmid and David J. Dix, Reproductive Toxicology Division, NHEERL, Office of Research and Development, US Environmental Protection Agency, Research Triang...

  5. SPERM RNA AMPLIFICATION FOR GENE EXPRESSION PROFILING BY DNA MICROARRAY TECHNOLOGY

    EPA Science Inventory

    Sperm RNA Amplification for Gene Expression Profiling by DNA Microarray Technology
    Hongzu Ren, Kary E. Thompson, Judith E. Schmid and David J. Dix, Reproductive Toxicology Division, NHEERL, Office of Research and Development, US Environmental Protection Agency, Research Triang...

  6. The Role Of Food Proximity in Eating Behavior and Body Mass Index Among Air Force Personnel

    DTIC Science & Technology

    2009-02-23

    food restaurants, the number of restaurants, bars, convenience stores, coffee shops, and vending machines have drastically increased in the past few...between places; Ewing, Schmid, Killingsworth, 13 Zlot, & Raudenbush, 2003; Frank, Andresen, & Schmid, 2004; Leslie, Coffee , Frank, Owen, Bauman...WEEK 3-4 times a WEEK 5+ times a WEEK Hamburgers, ground beef, meat burritos, tacos Beef or pork, such as steaks, roasts , ribs, or in

  7. Management of External Hemorrhage in Tactical Combat Casualty Care: Chitosan-Based Hemostatic Gauze Dressings. TCCC Guidelines Change 13-05

    DTIC Science & Technology

    2014-09-23

    circulating heparin. Schmid et al./ 2012 CEG Cesarean section at 37 weeks for placenta previa Yes; discharged 10U PRBCs, 7U plasma, 2g fibrinogen Case...uterine atony, placenta accreta/increta, or coagulopathy, including 5 severe cases where a hysterectomy seemed inevitable otherwise. Celox Gauze...the presence of circulating heparin. Schmid et al./ 2012 CEG Cesarean section at 37 weeks for placenta previa Yes; discharged 10U PRBCs, 7U

  8. [Achondrogenesis. Apropos of a case].

    PubMed

    Coulon, G; Menget, A; Pageaut, G

    1979-01-01

    The authors report a new case of achondrogenesis, the study of which is principally directed towards the histopathological examination of the conjugal cartilage. A brief review of the literature recalls the main clinical, radiological and histopathological characteristics of this fatal chondrodysplasia transmitted by an autosomal recessive means. In addition to other features, it reveals the difficulty which may be experienced in differentiating between the two types (I and II). Finally, the differential diagnosis is briefly assessed, the problem being the elimination of other non-transmissible chondrodysplasias, in particular thanatophoric dwarfism, for the purpose of appropriate genetic counselling.

  9. Ellis–Van Creveld syndrome in siblings: A rare case report

    PubMed Central

    Gokulraj, Sabitha; Mohan, N.; Raj, J. Babususai; Ahamed, S. Yasmeen; Arokiaraj, C. J. Stephen; Subbulakshmi, A. Cicilia

    2016-01-01

    Ellis–Van Creveld syndrome or chondroectodermal dysplasia is a rare autosomal recessive disorder presenting several skeletal manifestations and congenital heart malformations. Ellis–Van Creveld syndrome comprises of a tetrad of clinical manifestations of chondrodysplasia, polydactyly, ectodermal dysplasia, and cardiac defects. Here, we are presenting a very rare case of Ellis–Van Creveld syndrome in siblings. PMID:27829775

  10. A new case of fibrochondrogenesis from Spain.

    PubMed Central

    Martínez-Frías, M L; García, A; Cuevas, J; Rodríguez, J I; Urioste, M

    1996-01-01

    A rare, neonatally lethal chondrodysplasia with histological characteristics was first described in 1978 and the authors named the condition fibrochondrogenesis. Here we report the eighth published case of fibrochondrogenesis. This was identified in a population of 1,158,067 consecutive livebirths, so we can assume that this figure should be the minimal prevalence for livebirths. Images PMID:8733059

  11. Adapting Clausewitz to the Information Age: How Traditional News Media and Social Networking are Combining to Expand the Triangle

    DTIC Science & Technology

    2011-05-04

    utilized. 2 In this example, the metaphysical tendencies—passion, chance, rationale calculus— find their representations in the interconnected and...error is clearly demonstrated in his graphic portrayal of “squaring the triangle.” On each side of his triangle is placed a tendency of the metaphysical ...elaborate, each of the aspects works because of its nature as a physical actor, giving the metaphysical tendencies that comprise Clausewitz‟s trinity form

  12. Plastic anisotropy and dislocation trajectory in BCC metals

    NASA Astrophysics Data System (ADS)

    Dezerald, Lucile; Rodney, David; Clouet, Emmanuel; Ventelon, Lisa; Willaime, François

    2016-05-01

    Plasticity in body-centred cubic (BCC) metals at low temperatures is atypical, marked in particular by an anisotropic elastic limit in clear violation of the famous Schmid law applicable to most other metals. This effect is known to originate from the behaviour of the screw dislocations; however, the underlying physics has so far remained insufficiently understood to predict plastic anisotropy without adjustable parameters. Here we show that deviations from the Schmid law can be quantified from the deviations of the screw dislocation trajectory away from a straight path between equilibrium configurations, a consequence of the asymmetrical and metal-dependent potential energy landscape of the dislocation. We propose a modified parameter-free Schmid law, based on a projection of the applied stress on the curved trajectory, which compares well with experimental variations and first-principles calculations of the dislocation Peierls stress as a function of crystal orientation.

  13. Crystal plasticity investigation of the microstructural factors influencing dislocation channeling in a model irradiated bcc material

    SciTech Connect

    Patra, Anirban; McDowell, David L.

    2016-03-25

    We use a continuum crystal plasticity framework to study the effect of microstructure and mesoscopic factors on dislocation channeling and flow localization in an irradiated model bcc alloy. For simulated dislocation channeling characteristics we correlate the dislocation and defect densities in the substructure, local Schmid factor, and stress triaxiality, in terms of their temporal and spatial evolution. A metric is introduced to assess the propensity for localization and is correlated to the grain-level Schmid factor. We also found that localization generally takes place in grains with a local Schmid factor in the range 0.42 or higher. Surface slip step heights are computed at free surfaces and compared to relevant experiments.

  14. Crystal plasticity investigation of the microstructural factors influencing dislocation channeling in a model irradiated bcc material

    DOE PAGES

    Patra, Anirban; McDowell, David L.

    2016-03-25

    We use a continuum crystal plasticity framework to study the effect of microstructure and mesoscopic factors on dislocation channeling and flow localization in an irradiated model bcc alloy. For simulated dislocation channeling characteristics we correlate the dislocation and defect densities in the substructure, local Schmid factor, and stress triaxiality, in terms of their temporal and spatial evolution. A metric is introduced to assess the propensity for localization and is correlated to the grain-level Schmid factor. We also found that localization generally takes place in grains with a local Schmid factor in the range 0.42 or higher. Surface slip step heightsmore » are computed at free surfaces and compared to relevant experiments.« less

  15. Plastic anisotropy and dislocation trajectory in BCC metals.

    PubMed

    Dezerald, Lucile; Rodney, David; Clouet, Emmanuel; Ventelon, Lisa; Willaime, François

    2016-05-25

    Plasticity in body-centred cubic (BCC) metals at low temperatures is atypical, marked in particular by an anisotropic elastic limit in clear violation of the famous Schmid law applicable to most other metals. This effect is known to originate from the behaviour of the screw dislocations; however, the underlying physics has so far remained insufficiently understood to predict plastic anisotropy without adjustable parameters. Here we show that deviations from the Schmid law can be quantified from the deviations of the screw dislocation trajectory away from a straight path between equilibrium configurations, a consequence of the asymmetrical and metal-dependent potential energy landscape of the dislocation. We propose a modified parameter-free Schmid law, based on a projection of the applied stress on the curved trajectory, which compares well with experimental variations and first-principles calculations of the dislocation Peierls stress as a function of crystal orientation.

  16. Plastic anisotropy and dislocation trajectory in BCC metals

    PubMed Central

    Dezerald, Lucile; Rodney, David; Clouet, Emmanuel; Ventelon, Lisa; Willaime, François

    2016-01-01

    Plasticity in body-centred cubic (BCC) metals at low temperatures is atypical, marked in particular by an anisotropic elastic limit in clear violation of the famous Schmid law applicable to most other metals. This effect is known to originate from the behaviour of the screw dislocations; however, the underlying physics has so far remained insufficiently understood to predict plastic anisotropy without adjustable parameters. Here we show that deviations from the Schmid law can be quantified from the deviations of the screw dislocation trajectory away from a straight path between equilibrium configurations, a consequence of the asymmetrical and metal-dependent potential energy landscape of the dislocation. We propose a modified parameter-free Schmid law, based on a projection of the applied stress on the curved trajectory, which compares well with experimental variations and first-principles calculations of the dislocation Peierls stress as a function of crystal orientation. PMID:27221965

  17. New species of Xiphocentron Brauer 1870 (Trichoptera: Xiphocentronidae) from Northeastern Brazil.

    PubMed

    Vilarino, Albane; Calor, Adolfo R

    2015-01-23

    Two new species of Xiphocentron (Trichoptera: Xiphocentronidae) from Northeastern Brazil are diagnosed, described, and illustrated. Xiphocentron (Antillotrichia) kamakan n. sp. has inferior appendages each with a shape discontinuity (twist) between the first and second articles of inferior appendage, similar to that found in X. (Antillotrichia) rhamnes Schmid 1982, X. (Antillotrichia) serestus Schmid 1982, and X. (Antillotrichia) mnesteus Schmid 1982; however, it can be distinguished from these species by each inferior appendage having two darkly sclerotized spinulous regions ventrally on the basomesal and midmesal margins. Xiphocentron (Antillotrichia) maiteae n. sp. can be differentiated from all other congeners by having the basoventral margin of each inferior appendage strongly produced posterad. A key to males of Brazilian species of Xiphocentron is provided. 

  18. Effect of non-glide components of the stress tensor on deformation behavior of bcc transition metals

    SciTech Connect

    Ito, K.; Vitek, V.

    1999-07-01

    In this paper the authors demonstrate by atomic computer simulation that the non-Schmid slip behavior in bcc metals is a direct consequence of the non-planar core structure of 1/2<111> screw dislocations and their response to the applied stress tensor. The analysis has been carried out in detail for tantalum using the Finnis-Sinclair type central force many-body potentials. Two distinct non-Schmid effects have been discerned. The first is twinning-antitwinning slip asymmetry on {l{underscore}brace}112{r{underscore}brace} planes. This is an intrinsic property of the bcc structure and depends on the sense of the applied glide stress. The second non-Schmid effect is extrinsic and is controlled by the non-glide shear stresses perpendicular to the total Burgers vector on {l{underscore}brace}110{r{underscore}brace} planes into which the stress-free core of screw dislocations spread.

  19. Tension-compression asymmetry of the stress-strain response in aged single crystal and polycrystalline NiTi

    SciTech Connect

    Gall, K.; Sehitoglu, H.; Chumlyakov, Y.I.; Kireeva, I.V.

    1999-03-10

    The purpose of this work is to thoroughly understand tension-compression asymmetry in precipitated NiTi using unique experimental results and micro-mechanical modeling. For the first time, tensile and compressive stress-strain behaviors were established on aged single crystals ([100], [110], and [111] orientations) and polycrystalline NiTi. The single crystal and polycrystalline Ti-50.8 at.% Ni materials were given both peak aged and over aged heat treatments. The drawn polycrystalline NiTi has a strong texture of the {l_angle}111{r_angle}{l_brace}110{r_brace} type, thus it deformed in a manner consistent with the [111] single crystals. In contrast to the phenomenological theory of martensitic transformations (analogous to Schmid`s law), the critical resolved shear stress required to trigger the transformation, {tau}{sub crss}, in the peak-aged single crystals was dependent on both the stress direction and crystallographic orientation. Using micro-mechanical modeling, the deviation from Schmid`s law was attributed to the unique orientation relationship that exists between the Ti{sub 3}Ni{sub 4} precipitates (their coherent stress fields) and the 24 martensite correspondence variant pairs. The over-aged single crystals generally obeyed Schmid`s law within experimental error, consistent with the proposed micro-mechanical model. Qualitatively, the tension-compression asymmetry and orientation dependence of the recoverable strain level, {var_epsilon}{sub 0}, was consistent with the phenomenological theory for martensitic transformations. However, the peak- and over-aged single crystals generally both demonstrated smaller {var_epsilon}{sub 0} magnitudes than predicted. The differences for both crystals were attributed to the inhibition of martensite detwinning coupled with several unique microstructural effects.

  20. The Tomonaga-Luttinger liquid with quantum impurity revisited: Critical line and phase diagram

    NASA Astrophysics Data System (ADS)

    Lee, Taejin

    2017-01-01

    We revisit the (1 + 1) dimensional field theoretical model, which describes the Tomonaga-Luttinger liquid (TLL), interacting with a static impurity at the origin of the half line. Applying the Fermi-Bose equivalence and finite conformal transformations only, we map the model onto the Schmid model. Some details of the bosonization procedure have been given. The critical line and the phase diagram of the model follow from the renormalization group analysis of the Schmid model. The obtained critical line of the model is a hyperbola in the parameter space of the two couplings of the TLL.

  1. A review of the genus Metalype Klapálek, with descriptions of three new species from China (Trichoptera, Psychomyiidae)

    PubMed Central

    Qiu, Shuang; Morse, John C.; Yan, Yun-jun

    2017-01-01

    Abstract Three new species of Metalype from China, Metalype hubeiensis Qiu & Morse, sp. n., Metalype shexianensis Qiu & Morse, sp. n., and Metalype truncata Qiu & Morse, sp. n., are described and illustrated. Metalype uncatissima (Botosaneanu, 1970) is reported from China for the first time. The differences between genus Metalype and genus Psychomyia are discussed and four Psychomyia species are transferred to Metalype: Metalype holzenthali (Schmid, 1997); Metalype klapaleki (Malicky, 1995a); Metalype kumari (Schmid, 1997); and Metalype nithaiah (Malicky, 2014). A key to the males of Metalype species of the world is provided. PMID:28331400

  2. Plan to be flexible: a commentary on adaptive designs.

    PubMed

    Shih, Weichung Joe

    2006-08-01

    This is a discussion of the following three papers appearing in this special issue on adaptive designs: 'Nested repeated confidence intervals and switching between noninferiority and superiority' by Joachim Hartung and Guido Knapp; 'Confirmatory Seamless Phase II/III Clinical trials with Hypotheses Selection at Interim: General Concepts' by Frank Bretz, Heinz Schmidli, Franz König, Amy Racine and Willi Maurer; and 'Confirmatory Seamless Phase Il/III Clinical Trials with Hypotheses Selection at Interim: Applications and Practical Considerations' by Heinz Schmidli, Frank Bretz, Amy Racine and Willi Maurer.

  3. New data on Rhyacophila (Trichoptera: Rhyacophilidae) from West Malaysia and Indonesia (Lombok and Bali) with descriptions of two new species.

    PubMed

    Ivanov, Vladimir D; Melnitsky, Stanislav I

    2013-01-01

    A new species, Rhyacophila langkawia sp. n., belonging to the R. curvata Group sensu Schmid (1970) is described. The samples provide also material of the previously undescribed species cited by Schmid (1970) as R. schmidi, a nomen nudum; this species is described as R. schmidirossia sp. n., also in the R. curvata Group. Other sampled species were Rhyacophila curvata Morton, recorded for the first time from Negeri Sembilan (West Malaysia) and Lombok (Indonesia); Rhyacophila stheneboia Malicky & Prommi (Pahang and Negeri Sembilan, West Malaysia), and Rhyacophila anakbatukau Malicky, recorded for the first time from Lombok (Indonesia). Updated lists of the Rhyacophila species found in West Malaysia and Indonesia are provided.

  4. The (Even) Bolder Model: The Clinical Psychologist as Metaphysician-Scientist-Practitioner.

    ERIC Educational Resources Information Center

    O'Donohue, William

    1989-01-01

    Examines the roles of metaphysics in science and psychotherapy. Examines the views of Karl Popper and Imre Lakatos. Concludes that psychotherapy involves metaphysics in the following ways: (1) problem choice; (2) research and therapy design; (3) observation statements; (4) resolving the Duhemian problem; and (5) including anomalous results in…

  5. Looking for the Hype in Hypertext: An Essay Deconstructing Pedagogical Assumptions Associated with Online Learning and Instructional Design.

    ERIC Educational Resources Information Center

    Dwight, Jim

    This paper aims to debunk the metaphysics of presence informing modernist pedagogical assumptions. Systematic instructional design, predicated on teleological and eschatological modern metaphysics, superordinates designers' goals at the expense of learners. Tracing structuralist pedagogical theory to Bobbitt (1997) and Tyler (1949), one can…

  6. A Manifesto for Instructional Technology: Hyperpedagogy.

    ERIC Educational Resources Information Center

    Dwight, Jim; Garrison, Jim

    2003-01-01

    Calls for digital technology in education to embrace forms of pedagogy appropriate for hypertext, challenging western metaphysics and relying on the philosophy of John Dewey to propose an alternative. The paper reviews dominant models of curriculum, especially Ralph Tyler's, revealing their concealed metaphysical assumptions; shows that the…

  7. On the Nature of Concepts.

    ERIC Educational Resources Information Center

    Ninnes, L. E.

    It is difficult to give a precise meaning to the term "concept" because to specify any sense to the term is already to be using concepts. It is impossible to talk about concepts without at the same time having made epistemological and metaphysical commitments. If the epistemological and metaphysical commitments are inadequate, then the…

  8. An organizing framework for wilderness values

    Treesearch

    John C. Bergstrom; J. Michael Bowker; H. Ken Cordell

    2005-01-01

    Scientists, philosophers, poets, and politicians have defined wilderness in various physical, biological, and metaphysical terms. Following a metaphysical line of thought, wilderness has been described as a subjective "idea" in the mind of the beholder (Oelschlaeger, 1991). The Wilderness Act uses many physical and biological terms to define statutory...

  9. Arthroscopic visualization during excision of a central physeal bar.

    PubMed

    Stricker, S

    1992-01-01

    A centrally located developmental physeal bar in the proximal tibia was removed via a metaphyseal window. The use of an arthroscope to assist in the complete removal of the bone bridge is described. The arthroscope improved visualization and allowed reduction in the size of the metaphyseal window. At 2-year follow-up, the growth plate showed no evidence of bar reformation.

  10. George Eliot and Ford Madox Ford: "Philosophical Readings."

    ERIC Educational Resources Information Center

    Stroud-Drinkwater, Clive

    2002-01-01

    Argues that some of the works of major British writers may be read as propounding simple but important views on metaphysics of the self. Contends that the work of the British Empiricists cut the ground out from under the metaphysics of Descartes, and the world subsequently came to be regarded as a flux of impressions. Reflects on the relationship…

  11. The (Even) Bolder Model: The Clinical Psychologist as Metaphysician-Scientist-Practitioner.

    ERIC Educational Resources Information Center

    O'Donohue, William

    1989-01-01

    Examines the roles of metaphysics in science and psychotherapy. Examines the views of Karl Popper and Imre Lakatos. Concludes that psychotherapy involves metaphysics in the following ways: (1) problem choice; (2) research and therapy design; (3) observation statements; (4) resolving the Duhemian problem; and (5) including anomalous results in…

  12. George Eliot and Ford Madox Ford: "Philosophical Readings."

    ERIC Educational Resources Information Center

    Stroud-Drinkwater, Clive

    2002-01-01

    Argues that some of the works of major British writers may be read as propounding simple but important views on metaphysics of the self. Contends that the work of the British Empiricists cut the ground out from under the metaphysics of Descartes, and the world subsequently came to be regarded as a flux of impressions. Reflects on the relationship…

  13. The Sound of Violets: The Ethnographic Potency of Poetry?

    ERIC Educational Resources Information Center

    Phipps, Alison; Saunders, Lesley

    2009-01-01

    This paper takes the form of a dialogue between the two authors, and is in two halves, the first half discursive and propositional, and the second half exemplifying the rhetorical, epistemological and metaphysical affordances of poetry in critically scrutinising the rhetoric, epistemology and metaphysics of educational management discourse. The…

  14. A Manifesto for Instructional Technology: Hyperpedagogy.

    ERIC Educational Resources Information Center

    Dwight, Jim; Garrison, Jim

    2003-01-01

    Calls for digital technology in education to embrace forms of pedagogy appropriate for hypertext, challenging western metaphysics and relying on the philosophy of John Dewey to propose an alternative. The paper reviews dominant models of curriculum, especially Ralph Tyler's, revealing their concealed metaphysical assumptions; shows that the…

  15. The Sound of Violets: The Ethnographic Potency of Poetry?

    ERIC Educational Resources Information Center

    Phipps, Alison; Saunders, Lesley

    2009-01-01

    This paper takes the form of a dialogue between the two authors, and is in two halves, the first half discursive and propositional, and the second half exemplifying the rhetorical, epistemological and metaphysical affordances of poetry in critically scrutinising the rhetoric, epistemology and metaphysics of educational management discourse. The…

  16. On the Nature of Concepts.

    ERIC Educational Resources Information Center

    Ninnes, L. E.

    It is difficult to give a precise meaning to the term "concept" because to specify any sense to the term is already to be using concepts. It is impossible to talk about concepts without at the same time having made epistemological and metaphysical commitments. If the epistemological and metaphysical commitments are inadequate, then the…

  17. Tensile failure of thin aluminium sheet observed by in-situ EBSD

    NASA Astrophysics Data System (ADS)

    Kahl, S.; Peng, R. L.; Johansson, S.

    2015-04-01

    Tensile tests on two similar 75-μm-thick aluminium sheet materials were carried out inside a scanning electron microscope equipped with an electron backscatter detector. The materials were subjected to simulated brazing prior to the test because this type of material is used for fins in automotive heat exchangers. Grain sizes were large relative to sheet thickness and ND-rotated cube and P texture components dominated the recrystallization textures; their volume fractions differed strongly in the two different materials, though. Strains over the microscope image fields were determined from positions of constituent particles or from grain sizes; the two methods gave consistent results. Grains with high Schmid factors accumulated significantly more deformation than grains with low Schmid factors. Cracks nucleated in high-Schmid factor grains, or in groups of such grains, at the specimen edges. When only low-Schmid factor grains were present at the specimen edges, the crack nucleated inside the specimen. The subsequent crack growth was intragranular and occurred at approximately 90° relative to the load direction.

  18. EXPRESSION OF AHR AND ARNT MRNA IN CULTURED HUMAN ENDOMETRIAL EXPLANTS EXPOSED TO TCDD

    EPA Science Inventory

    Expression of AhR and ARNT mRNA in cultured human endometrial explants exposed to TCDD.

    Pitt JA, Feng L, Abbott BD, Schmid J, Batt RE, Costich TG, Koury ST, Bofinger DP.

    Curriculum in Toxicology, University of North Carolina, Chapel Hill, NC 27599, USA.

    Endom...

  19. PROFILING GENE EXPRESSION IN HUMAN H295R ADRENOCORTICAL CARCINOMA CELLS AND RAT TESTES TO IDENTIFY PATHWAYS OF TOXICITY FOR CONAZOLE FUNGICIDES

    EPA Science Inventory

    Profiling Gene Expression in Human H295R Adrenocortical Carcinoma Cells and Rat Testes to Identify Pathways of Toxicity for Conazole Fungicides
    Ren1, H., Schmid1, J., Retief2, J., Turpaz2, Y.,Zhang3, X.,Jones3, P., Newsted3, J.,Giesy3, J., Wolf1, D.,Wood1, C., Bao1, W., Dix1, ...

  20. Modeling Ability Differentiation in the Second-Order Factor Model

    ERIC Educational Resources Information Center

    Molenaar, Dylan; Dolan, Conor V.; van der Maas, Han L. J.

    2011-01-01

    In this article we present factor models to test for ability differentiation. Ability differentiation predicts that the size of IQ subtest correlations decreases as a function of the general intelligence factor. In the Schmid-Leiman decomposition of the second-order factor model, we model differentiation by introducing heteroscedastic residuals,…

  1. Investigating the Structure of the WJ-III Cognitive in Early School Age through Two Exploratory Bifactor Analysis Procedures

    ERIC Educational Resources Information Center

    Dombrowski, Stefan C.

    2014-01-01

    Two exploratory bifactor methods (e.g., Schmid-Leiman [SL] and exploratory bifactor analysis [EBFA]) were used to investigate the structure of the Woodcock-Johnson III (WJ-III) Cognitive in early school age (age 6-8). The SL procedure is recognized by factor analysts as a preferred method for EBFA. Jennrich and Bentler recently developed an…

  2. DEVELOPMENTAL TOXICITY OF PERFLUOROOCATANE SULFONATE (PFOS) IN THE RAT AND MOUSE

    EPA Science Inventory

    1Lau, C., 1J.M. Rogers, 1R.G. Hanson*, 1B.D. Barbee*, 1M.G. Narotsky, 1J.E. Schmid* and 2J.H. Richards*. 1Reproductive Toxicology Division, and 2Environmental Toxicology Division, NHEERL, US EPA, Research Triangle Park, North Carolina. Developmental toxicity of Perfluorooctane ...

  3. DNA ARRAYS TO MONITOR GENE EXPRESSION IN RAT BLOOD AND UTERUS FOLLOWING 17-BETA-ESTRADIOL EXPOSURE: BIOMONITORING ENVIRONMENTAL EFFECTS USING SURROGATE TISSUES

    EPA Science Inventory

    DNA arrays to monitor gene expression in rat blood and uterus following 17-b-estradiol exposure - biomonitoring environmental effects using surrogate tissues
    John C. Rockett, Robert J. Kavlock, Christy R. Lambright, Louise G. Parks, Judith E. Schmid, Vickie S. Wilson, Carmen W...

  4. GENE EXPRESSION PROFILING OF ACCESSIBLE SURROGATE TISSUES TO MONITOR MOLECULAR CHANGES IN INACCESSIBLE TARGET TISSUES FOLLOWING TOXICANT EXPOSURE

    EPA Science Inventory

    Gene Expression Profiling Of Accessible Surrogate Tissues To Monitor Molecular Changes In Inaccessible Target Tissues Following Toxicant Exposure
    John C. Rockett, Chad R. Blystone, Amber K. Goetz, Rachel N. Murrell, Judith E. Schmid and David J. Dix
    Reproductive Toxicology ...

  5. Research as Pedagogy: Using Experimental Data Collection as a Course Learning Tool

    ERIC Educational Resources Information Center

    Beard, Virginia; Booke, Paula

    2016-01-01

    Integrating research in the classroom experience is recognized as potentially important in enhancing student learning (Price 2001; Schmid 1992). This article asks if student integration as research subjects augments their learning about political science. A quasi-experimental project focused on media usage, construction, and influences on the…

  6. DEVELOPMENTAL TOXICITY OF PERFLUOROOCATANE SULFONATE (PFOS) IN THE RAT AND MOUSE

    EPA Science Inventory

    1Lau, C., 1J.M. Rogers, 1R.G. Hanson*, 1B.D. Barbee*, 1M.G. Narotsky, 1J.E. Schmid* and 2J.H. Richards*. 1Reproductive Toxicology Division, and 2Environmental Toxicology Division, NHEERL, US EPA, Research Triangle Park, North Carolina. Developmental toxicity of Perfluorooctane ...

  7. First Language Attrition in the Speech of Dutch-English Bilinguals: The Case of Monozygotic Twin Sisters

    ERIC Educational Resources Information Center

    Mayr, Robert; Price, Sacha; Mennen, Ineke

    2012-01-01

    Recent years have seen a proliferation of research on attrition in L1 speech (de Leeuw, Mennen & Scobbie, in press; de Leeuw, Schmid & Mennen, 2010; Dmitrieva, Jongman & Sereno, 2010; Mennen, 2004). Adding to this line of inquiry, the present study investigates the speech of a 62-year-old bilingual monozygotic twin who emigrated to an L2-speaking…

  8. TRANSCRIPTIONAL RESPONSES OF MOUSE EMBRYO CULTURES EXPOSED TO BROMOCHLOROACETIC ACID

    EPA Science Inventory

    Transcriptional responses of mouse embryo cultures exposed to bromochloroacetic acid

    Edward D. Karoly?*, Judith E. Schmid* and E. Sidney Hunter III*
    ?Curriculum in Toxicology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina and *Reproductive Tox...

  9. GENE EXPRESSION PATTERNS OF CD-1 DAY-8 EMBRYO CULTURES EXPOSED TO BROMOCHLORO ACETIC ACID

    EPA Science Inventory

    Gene expression patterns of CD-1 day-8 embryo cultures exposed to bromochloro acetic acid

    Edward D. Karoly?*, Judith E. Schmid* and E. Sidney Hunter III*
    ?Curriculum in Toxicology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina and *Reproductiv...

  10. ALTERED TRANSCRIPTIONAL RESPONSES OF MOUSE EMBRYO CULTURES EXPOSED TO BISINDOLYLMALEIMIDE (BIS L)

    EPA Science Inventory

    Altered transcriptional responses in mouse embryos exposed to bisindolylmaleimide I (Bis I) in whole embryo culture

    Edward D. Karoly?*, Judith E. Schmid*, Maria R. Blanton*and E. Sidney Hunter III*
    ?Curriculum in Toxicology, University of North Carolina at Chapel Hill, ...

  11. Research as Pedagogy: Using Experimental Data Collection as a Course Learning Tool

    ERIC Educational Resources Information Center

    Beard, Virginia; Booke, Paula

    2016-01-01

    Integrating research in the classroom experience is recognized as potentially important in enhancing student learning (Price 2001; Schmid 1992). This article asks if student integration as research subjects augments their learning about political science. A quasi-experimental project focused on media usage, construction, and influences on the…

  12. First Language Attrition

    ERIC Educational Resources Information Center

    Schmid, Monika S.

    2016-01-01

    Language attrition research has developed in several clearly delimited phases spanning, roughly, each of the three decades between 1982 and 2012 (see Kopke & Schmid 2004 for a more detailed overview and analysis). The first phase was an era of stocktaking, with a number of symposia, collected volumes and special issues of journals. All of…

  13. TRANSCRIPTIONAL RESPONSES OF MOUSE EMBRYO CULTURES EXPOSED TO BROMOCHLOROACETIC ACID

    EPA Science Inventory

    Transcriptional responses of mouse embryo cultures exposed to bromochloroacetic acid

    Edward D. Karoly?*, Judith E. Schmid* and E. Sidney Hunter III*
    ?Curriculum in Toxicology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina and *Reproductive Tox...

  14. GENE EXPRESSION PATTERNS OF CD-1 DAY-8 EMBRYO CULTURES EXPOSED TO BROMOCHLORO ACETIC ACID

    EPA Science Inventory

    Gene expression patterns of CD-1 day-8 embryo cultures exposed to bromochloro acetic acid

    Edward D. Karoly?*, Judith E. Schmid* and E. Sidney Hunter III*
    ?Curriculum in Toxicology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina and *Reproductiv...

  15. Fatigue 󈨛. Papers presented at the International Conference on Fatigue and Fatigue Threshold (3rd) Held in Charlottesville, Virginia on June 28-July 3, 1987. Volume 2.

    DTIC Science & Technology

    1987-10-15

    277-285. (7) Cheng, A.S. ard Laird, C., Mater.Sci.Eng., Vol. 51, 1981, pp.55-60. (8) Gerold, V., Lerch, B.A. and Steiner , D., Z.Metallkd., Vol.75...is the strong dependence of the closure stress intensity, Kcl, on the loading history. * Erich -Schmid-Institut fUr Festkbrperphysik, Osterrei- chische

  16. GENE EXPRESSION PROFILING IN TESTIS AND LIVER OF MICE TO IDENTIFY MODES OF ACTION OF CONAZOLE TOXICITIES

    EPA Science Inventory

    Gene Expression Profiling in Testis and Liver of Mice to Identify MODES OF ACTION OF Conazole TOXICITies

    Amber K. Goetz1, Wenjun Bao2, Judith E. Schmid2, Carmen Wood2, Hongzu Ren2, Deborah S. Best2, Rachel N. Murrell1, John C. Rockett2, Michael G. Narotsky2, Douglas C. Wol...

  17. COMPARISON OF THREE METHODS FOR COUNTING HUMAN SPERMATOZOA

    EPA Science Inventory

    COMPARISON OF THREE METHODS FOR COUNTING HUMAN SPERMATOZOA SC Jeffay1, LF Strader1, RA Morris1, JE Schmid1, AF Olshan2, LW Lansdell2, SD Perreault1. 1US EPA/ORD, RTP, NC; 2UNC-CH, Chapel Hill, NC.
    The IDENT feature of the HTM-IVOS semen analyzer (Hamilton Thorne Research, Bev...

  18. EXPRESSION OF AHR AND ARNT MRNA IN CULTURED HUMAN ENDOMETRIAL EXPLANTS EXPOSED TO TCDD

    EPA Science Inventory

    Expression of AhR and ARNT mRNA in cultured human endometrial explants exposed to TCDD.

    Pitt JA, Feng L, Abbott BD, Schmid J, Batt RE, Costich TG, Koury ST, Bofinger DP.

    Curriculum in Toxicology, University of North Carolina, Chapel Hill, NC 27599, USA.

    Endom...

  19. Using Buttons to Better Manage Online Presence: How One Academic Institution Harnessed the Power of Flair

    ERIC Educational Resources Information Center

    Dority Baker, Marcia L.

    2013-01-01

    This article provides a case study of how the University of Nebraska College of Law and Schmid Law Library use "buttons" to manage Law College faculty members' and librarians' online presence. Since Google is the primary search engine used to find information, it is important that librarians and libraries assist Web site visitors in…

  20. ALTERED TRANSCRIPTIONAL RESPONSES OF MOUSE EMBRYO CULTURES EXPOSED TO BISINDOLYLMALEIMIDE (BIS L)

    EPA Science Inventory

    Altered transcriptional responses in mouse embryos exposed to bisindolylmaleimide I (Bis I) in whole embryo culture

    Edward D. Karoly?*, Judith E. Schmid*, Maria R. Blanton*and E. Sidney Hunter III*
    ?Curriculum in Toxicology, University of North Carolina at Chapel Hill, ...