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Sample records for schmid metaphyseal chondrodysplasia

  1. Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the NC1 domain of type X collagen

    SciTech Connect

    McIntosh, I.; Abbott, M.H.; Francomano, C.A.

    1994-09-01

    Schmid metaphyseal chondrodysplasia (SMCD, MIM 156500) is an autosomal dominant disorder of the osseous skeleton resulting in short stature, coxa vara and a waddling gait. Type X collagen is an extracellular matrix protein expressed exclusively by hypertrophic chondrocytes. We have previously identified four mutations in the type X collagen gene (COL10A1) in patients with SMCD. Each of these mutations, as well as another three reported by other investigators, are in the carboxy-terminal non-collagenous domain (NC1). Here, we present data for another three mutations each predicted to cause premature termination of translation within the NC1 domain. Two are nonsense mutations, Y628X and W651X, while the third is a frameshift resulting from the deletion of two nucleotides, 1856delCC. Each of these mutations occurred de novo, resulting in sporadic cases of SMCD. Four frameshift mutations have now been reported to initiate within 10bp of each other in the NC1 domain, namely 1865delC, 1856delCC, 1856del13 and 1866del10. These findings further support the hypothesis that SMCD is the result of the mutant type X collagen molecule being unable to participate in trimerization, although a dominant-negative model of disease pathogenesis has not been formally excluded.

  2. Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia.

    PubMed Central

    Wallis, G A; Rash, B; Sykes, B; Bonaventure, J; Maroteaux, P; Zabel, B; Wynne-Davies, R; Grant, M E; Boot-Handford, R P

    1996-01-01

    Type X collagen is a homotrimer of alpha 1 (X) chains encoded by the COL10A1 gene. It is synthesised specifically and transiently by hypertrophic chondrocytes at sites of endochondral ossification. Point mutations and deletions in the region of the COL10A1 gene encoding the alpha 1 (X) carboxyl-terminal (NC1) domain have previously been identified in subjects with metaphyseal chondrodysplasia type Schmid (MCDS). To determine whether mutations in other regions of the gene caused MCDS or comparable phenotypes, we used PCR followed by SSCP to analyse the coding and promoter regions of the COL10A1 gene, as well as the intron/exon boundaries of five further subjects with MCDS, one subject with atypical MCDS, and nine subjects with other forms of metaphyseal chondrodysplasia. Using this approach, three of the subjects with MCDS were found to be heterozygous for the deletions 1864delACTT, 1956delT, and 2029delAC in the region of COL10A1 encoding the NC1 domain. These deletions would lead to alterations in the reading frame, premature stop codons, and the translation of truncated protein products. A fourth subject with MCDS was found to be heterozygous for a single base pair transition, T1894C, that would lead to the substitution of the amino acid residue serine at position 600 by proline within the NC1 domain. We did not, however, detect mutations in the coding and non-coding regions of COL10A1 in one subject with MCDS, the subject with atypical MCDS, and in the nine subjects with other forms of metaphyseal chondrodysplasia. We propose that the nature and distribution of mutations within the NC1 domain of COL10A1 causing MCDS argues against the hypothesis that the phenotype arises simply through haploinsufficiency but that an, as yet, unexplained mutation mechanism underlies this phenotype. Images PMID:8782043

  3. Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the [alpha]I(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid

    SciTech Connect

    Wallis, G.A.; Rash, B.; Sweetman, W.A.; Thomas, J.T.; Grant, M.E.; Boot-Handford, R.P. ); Super, M. ); Evans, G. )

    1994-02-01

    Type X collagen is a homotrimeric, short-chain, nonfibrillar extracellular-matrix component that is specifically and transiently synthesized by hypertrophic chondrocytes at the site of endochondral ossification. The precise function of type X collagen is not known, but its specific pattern of expression suggests that mutations within the encoding gene (COL10A1) that alter the structure or synthesis of the protein may cause heritable forms of chondrodysplasia. The authors used the PCR and the SSCP techniques to analyze the coding and upstream promoter regions of the COL10A1 gene in a number of individuals with forms of chondrodysplasia. Using this approach, they identified two individuals with metaphyseal chondrodysplasia type Schmid (MCDS) with SSCP changes in the region of the gene encoding the carboxyl-terminal domain. Sequence analysis demonstrated that the individuals were heterozygous for two unique single-base-pair transitions that led to the substitution of the highly conserved amino acid residue tyrosine at position 598 by aspartic acid in one person and of leucine at position 614 by proline in the other. The substitution at residue 598 segregated with the phenotype in a family of eight (five affected and three unaffected) related persons. The substitutions at residue 614 occurred in a sporadically affected individual but not in her unaffected mother and brother. Additional members of this family were not available for further study. These results suggest that certain amino acid substitutions within the carboxyl-terminal domain of the chains of the type X collagen molecule cause MCDS. These amino acid substitutions are likely to alter either chain recognition or assembly of the type X collagen molecule, thereby depleting the amount of normal type X collagen deposited in the extracellular matrix, with consequent aberrations in bone growth and development. 36 refs., 5 figs.

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

    PubMed

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

    1998-07-01

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

  5. New form of platyspondylic lethal chondrodysplasia.

    PubMed

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

    1996-12-30

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

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

    MedlinePlus

    ... linked chondrodysplasia punctata 2 X-linked chondrodysplasia punctata 2 Enable Javascript to view the expand/collapse boxes. ... All Close All Description X-linked chondrodysplasia punctata 2 is a disorder characterized by bone, skin, and ...

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

    MedlinePlus

    ... linked chondrodysplasia punctata 1 X-linked chondrodysplasia punctata 1 Enable Javascript to view the expand/collapse boxes. ... All Close All Description X-linked chondrodysplasia punctata 1 is a disorder of cartilage and bone development ...

  8. 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…

  9. The pathology of cartilage in chondrodysplasias.

    PubMed

    Hwang, W S; Tock, E P; Tan, K L; Tan, L K

    1979-01-01

    The pathology of four types of chondrodysplasias, viz., type II achondrogenesis, thanatophoric dwarfism, Saldino-Noonan syndrome, and chondrodysplasia punctata were studied. In each of these disorders, cells with features similar to the chief and dark chondrocytes of normal hyaline cartilage were seen to be altered in different ways. There was a total absence of chief cells in type II achondrogenesis. All the chondrocytes present were of one variety at different states of maturation, with the fully matured cell having features of dark chondrocytes. The absence of chief cells was associated with marked diminution of interlacunar matrix and failure of growth plate development. The chief chondrocytes in thanatophoric dwarfism appeared diminished in number. They were probably abnormal functionally as evident by their lack of cytoplasmic vacuolation and the formation of thick, occasionally branched collagen in the matrix. The growth plate was stunted and poorly developed. Striking changes involving the dark cells were noted in Saldino-Noonan syndrome, where unusually elongated dark cells were found in groups within abnormal cystic spaces. The chief cells were large and contained abnormal cytoplasmic filaments. There was no formation of a growth plate. In chondrodysplasia punctata, the chief cells were enlarged and abnormally vacuolated. The matrix showed excessive aggregates of coarse granular material. In addition, there were focal accumulations of highly abnormal chief and dark cells with abnormal matrix which contained increased amount of keratan sulphate and culminated in spotty calcification. PMID:469631

  10. 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. PMID:22771725

  11. Clinical genetics and pathobiology of ciliary chondrodysplasias

    PubMed Central

    Schmidts, Miriam

    2014-01-01

    Ciliary chondrodysplasias represent a heterogenous group of rare, nearly exclusively autosomal recessively inherited developmental conditions. While the skeletal phenotype, mainly affecting limbs, ribs and sometimes the craniofacial skeleton, is predominant, extraskeletal disease affecting the kidneys, liver, heart, eyes and other organs and tissues is observed inconsistently. Significant lethality, resulting from cardiorespiratory failure due to thoracic constriction as well as from renal and hepatic insufficiency or primary cardiac failure due to congenital heart disease, is observed with these conditions. The underlying genetic defects as well as developmental biology and cell biology work undertaken using animal model systems, suggest that these rare conditions result from ciliary malfunction. The skeletal phenotype is believed to result from imbalances in the hedgehog signaling pathway that normally occurs in functional cilia in chondrocytes. Although phenotypes have been historically distinguished based on clinical features into short-rib polydactyly syndrome, Jeune asphyxiating thoracic dystrophy, Mainzer-Saldino syndrome, Sensenbrenner syndrome (cranioectodermal dysplasia), oral-facial-digital syndrome and Ellis-van Creveld syndrome, recent research suggests that there is significant genetic as well as phenotypic overlap between the conditions. This review discusses ciliary chondrodysplasias from phenotypic hallmarks to clinical management and summarizes progress in identification of the underlying molecular mechanisms as well as potential future therapeutic perspectives. PMID:25506500

  12. 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

  13. 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.

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

    PubMed

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

    1990-04-01

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

  15. 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…

  16. 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

  17. 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. PMID:11702652

  18. 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. PMID:21088098

  19. 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…

  20. 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,…

  1. Type II collagen screening in the human chondrodysplasias.

    PubMed

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

    1989-12-01

    Abnormalities of type II collagen have been considered strong candidates for causing human condrodysplasias. We have employed peptide mapping to screen for several types of type II colagen abnormalities in cartilage samples from 66 patients with 20 separate disorders. Except for achondrogenesis type II (Langer-Saldino) and spondyloepiphyseal dysplasia (SED) congenita in which abnormalities have been described and diastrophic dysplasia in which the changes were probably secondary, no abnormalities were detected. Within the limitations of the screening technique, the results combined with other data from the literature suggest that abnormalities of this molecule are not common causes of chondrodysplasias outside of the achondrogenesis type II-SED congenita family of disorders. PMID:2624272

  2. 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. PMID:23024399

  3. 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

  4. 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.

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

    SciTech Connect

    Hale, Lucas M.; Lim, Hojun; Zimmerman, Jonathan A.; Battaile, Corbett C.; Weinberger, Christopher R.

    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.

  6. 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

  7. 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

    ... FR 49760), FDA published a notice offering an opportunity for a hearing (NOOH) on a proposal to... Research, Food and Drug Administration, 10903 New Hampshire Ave., Bldg. 51, rm. 6366, Silver Spring, MD... Point, PA palmitate) 19486 NDA 8-595 Immolin Vaginal Schmid Laboratories, Inc. Cream Jel NDA...

  8. Tissue and cell studies of the growth plate in the chondrodysplasias.

    PubMed

    Horton, W A; Campbell, D; Machado, M A; Aulthouse, A L; Ahmed, S; Ellard, J T

    1989-09-01

    As the morphologic expression of the chondrocytic differentiation pathway responsible for bone development and growth, the growth plate has been investigated extensively in the chondrodysplasias. Unique morphologic abnormalities identified in many disorders have provided insight into pathogenetic mechanisms and have been useful diagnostically and nosologically. Biochemical studies have detected evidence of type II collagen defects in patients having disorders in the achondrogenesis type II-spondyloepiphyseal dysplasias (SED) congenita family of chondrodysplasias. Most promising may be the cell culture systems now being developed for human chondrocytes. Preliminary results suggest that they will allow the cellular and molecular biology of the dysplastic growth plate to be directly analyzed. PMID:2816990

  9. 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). PMID:22771724

  10. Metaphyseal bone loss in revision knee arthroplasty.

    PubMed

    Ponzio, Danielle Y; Austin, Matthew S

    2015-12-01

    The etiology of bone loss encountered during revision total knee arthroplasty (TKA) is often multifactorial and can include stress shielding, osteolysis, osteonecrosis, infection, mechanical loss due to a grossly loose implant, and iatrogenic loss at the time of implant resection. Selection of the reconstructive technique(s) to manage bone deficiency is determined by the location and magnitude of bone loss, ligament integrity, surgeon experience, and patient factors including the potential for additional revision, functional demand, and comorbidities. Smaller, contained defects are reliably managed with bone graft, cement augmented with screw fixation, or modular augments. Large metaphyseal defects require more extensive reconstruction such as impaction bone grafting with or without mesh augmentation, prosthetic augmentation, use of bulk structural allografts, or use of metaphyseal cones or sleeves. While each technique has advantages and disadvantages, the most optimal method for reconstruction of large metaphyseal bone defects during revision TKA is not clearly established. PMID:26362647

  11. 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)

  12. 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…

  13. 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…

  14. 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…

  15. 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.

  16. 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. PMID:23692231

  17. A new lethal chondrodysplasia with spondylocostal dysostosis, multiple internal anomalies and Dandy-Walker cyst.

    PubMed

    Moerman, P; Vandenberghe, K; Fryns, J P; Haspeslagh, M; Lauweryns, J M

    1985-02-01

    We describe here a female infant, exhibiting lethal short-limbed dwarfism. The condition superficially resembled achondrogenesis. However, unlike achondrogenesis there was an associated severe spondylocostal dysostosis and major non-skeletal anomalies, particularly a cerebellar Dandy-Walker cyst, cardiovascular and urogenital malformations. The chondroosseous morphology was nonspecific. The case is believed to be unique. It is therefore suggested that this constellation of anomalies constitutes a "new" lethal syndrome, different from the delineated chondrodysplasias. PMID:3884191

  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. 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)

  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. A new feeding group within larval Drusinae (Trichoptera: Limnephilidae): the alpinus-group sensu Schmid, 1956, including larval descriptions of Drusus franzi Schmid, 1956 and Drusus alpinus (Meyer-Dür, 1875)

    PubMed Central

    GRAF, W.; WARINGER, J.; PAULS, S.U.

    2016-01-01

    This paper presents a description of the hitherto unknown larvae of Drusus franzi Schmid 1956, and Drusus alpinus (Meyer-Dür 1875). Information on the morphological and genetic identification of both species is given, and the most important diagnostic features are illustrated. Their systematic position within the genus Drusus is affirmed and zoogeographical and ecological notes are added. PMID:27069350

  2. 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…

  3. Canine chondrodysplasia caused by a truncating mutation in collagen-binding integrin alpha subunit 10.

    PubMed

    Kyöstilä, Kaisa; Lappalainen, Anu K; Lohi, Hannes

    2013-01-01

    The skeletal dysplasias are disorders of the bone and cartilage tissues. Similarly to humans, several dog breeds have been reported to suffer from different types of genetic skeletal disorders. We have studied the molecular genetic background of an autosomal recessive chondrodysplasia that affects the Norwegian Elkhound and Karelian Bear Dog breeds. The affected dogs suffer from disproportionate short stature dwarfism of varying severity. Through a genome-wide approach, we mapped the chondrodysplasia locus to a 2-Mb region on canine chromosome 17 in nine affected and nine healthy Elkhounds (praw = 7.42×10(-6), pgenome-wide = 0.013). The associated locus contained a promising candidate gene, cartilage specific integrin alpha 10 (ITGA10), and mutation screening of its 30 exons revealed a nonsense mutation in exon 16 (c.2083C>T; p.Arg695*) that segregated fully with the disease in both breeds (p = 2.5×10(-23)). A 24% mutation carrier frequency was indicated in NEs and an 8% frequency in KBDs. The ITGA10 gene product, integrin receptor α10-subunit combines into a collagen-binding α10β1 integrin receptor, which is expressed in cartilage chondrocytes and mediates chondrocyte-matrix interactions during endochondral ossification. As a consequence of the nonsense mutation, the α10-protein was not detected in the affected cartilage tissue. The canine phenotype highlights the importance of the α10β1 integrin in bone growth, and the large animal model could be utilized to further delineate its specific functions. Finally, this study revealed a candidate gene for human chondrodysplasias and enabled the development of a genetic test for breeding purposes to eradicate the disease from the two dog breeds. PMID:24086591

  4. Constructivisms and Objectivity: Disentangling Metaphysics from Pedagogy

    NASA Astrophysics Data System (ADS)

    Grandy, Richard E.

    We can distinguish the claims of cognitive constructivism from those of metaphysical constructivism, which is almost entirely irrelevant to science education. Cognitive constructivism has strong empirical support and indicates important directions for changing science instruction. It implies that teachers need to be cognizant of representational, motivational and epistemic dimensions which can restrict or promote student learning. The resulting set of tasks for a science teacher are considerably larger and more complex than on the older more traditional conception, but the resources of cognitive sciences and the history of science can provide important parts of the teachers intellectual tool kit. A critical part of this conception of science education is that students must develop the skills to participate in epistemic interchanges. They must be provided opportunities and materials to develop those skills and the classroom community must have the appropriate features of an objective epistemic community.

  5. [Non-ossifying fibroma (metaphyseal fibrous defect)].

    PubMed

    Rogozhin, D V; Konovalov, D M; Kozlov, A S; Talalaev, A G; Ektova, A P

    2016-01-01

    Non-ossifying fibroma (NOF) or metaphyseal fibrous defect (MFD) is benign fibroblast proliferation with the presence of osteoclast-like multinucleated giant cells. The most cases of NOF/MFD occur in the metaphysis of the long tubular bones of the lower extremities, more commonly in the metaphysis of the femur and in the proximal metaphysis of the tibia. This lesion has a characteristic X-ray pattern and requires no surgical intervention, except for cases of a pathologic fracture or a risk for the latter. The paper analyzes 35 NOF/MFD cases in children and adolescents. It has been found that one and all patients have undergone surgery, suggesting the low awareness of this abnormality among radiodiagnosticians, pathologists, and surgeons. PMID:27070773

  6. 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.

  7. Chondroitin sulfate perlecan enhances collagen fibril formation. Implications for perlecan chondrodysplasias.

    PubMed

    Kvist, Alexander J; Johnson, Anna E; Mörgelin, Matthias; Gustafsson, Erika; Bengtsson, Eva; Lindblom, Karin; Aszódi, Attila; Fässler, Reinhard; Sasaki, Takako; Timpl, Rupert; Aspberg, Anders

    2006-11-01

    Inactivation of the perlecan gene leads to perinatal lethal chondrodysplasia. The similarity to the phenotypes of the Col2A1 knock-out and the disproportionate micromelia mutation suggests perlecan involvement in cartilage collagen matrix assembly. We now present a mechanism for the defect in collagen type II fibril assembly by perlecan-null chondrocytes. Cartilage perlecan is a heparin sulfate or a mixed heparan sulfate/chondroitin sulfate proteoglycan. The latter form binds collagen and accelerates fibril formation in vitro, with more defined fibril morphology and increased fibril diameters produced in the presence of perlecan. Interestingly, the enhancement of collagen fibril formation is independent on the core protein and is mimicked by chondroitin sulfate E but neither by chondroitin sulfate D nor dextran sulfate. Furthermore, perlecan chondroitin sulfate contains the 4,6-disulfated disaccharides typical for chondroitin sulfate E. Indeed, purified glycosaminoglycans from perlecan-enriched fractions of cartilage extracts contain elevated levels of 4,6-disulfated chondroitin sulfate disaccharides and enhance collagen fibril formation. The effect on collagen assembly is proportional to the content of the 4,6-disulfated disaccharide in the different cartilage extracts, with growth plate cartilage glycosaminoglycan being the most efficient enhancer. These findings demonstrate a role for perlecan chondroitin sulfate side chains in cartilage extracellular matrix assembly and provide an explanation for the perlecan-null chondrodysplasia. PMID:16956876

  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. PMID:23638662

  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. PMID:27269274

  10. 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.

  11. Classic metaphyseal lesion following external cephalic version and cesarean section.

    PubMed

    Lysack, John T; Soboleski, Don

    2003-06-01

    We report a case of an otherwise healthy neonate diagnosed at birth with a classic metaphyseal lesion of the proximal tibia following external cephalic version for frank breech presentation and a subsequent urgent cesarean section. Although the classic metaphyseal lesion is considered highly specific for infant abuse, this case demonstrates the importance of obtaining a history of obstetric trauma for neonates presenting to the imaging department for suspected non-accidental injury. PMID:12709748

  12. 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. PMID:10367975

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

    PubMed

    Hästbacka, J; Superti-Furga, A; Wilcox, W R; Rimoin, D L; Cohn, D H; Lander, E S

    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. PMID:8571951

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

    PubMed

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

    1996-05-01

    Achondrogenesis type 1B (ACG-1B), atelosteogenesis type 2 (AO-2), and diastrophic dysplasia (DTD) are recessively inherited chondrodysplasias 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 chondrodysplasias arising at the DTDST locus constitute a bone dysplasia family with recessive inheritance. PMID:8723100

  15. 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.

  16. [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. PMID:23035401

  17. 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. PMID:20623379

  18. 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…

  19. 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

  20. 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…

  1. The Metaphysical Structure of Education in the 20th Century.

    ERIC Educational Resources Information Center

    Winchester, Ian

    1999-01-01

    Lists presuppositions or assumptions that have been fundamental to educational thought in this century. Explores the "metaphysics of education" through a historical comparison and contrast of Eastern and Western educational thought and development. Discusses universal schooling as necessary for economic success and industrialization in the…

  2. Some psychosocial aspects of nonlethal chondrodysplasias: I. Assessment using a Life-Styles Questionnaire.

    PubMed

    Hunter, A G

    1998-06-16

    Studies concerning the psychosocial aspects of skeletal dysplasias that cause disproportionate short stature have been few and have usually involved small numbers of patients. As part of a study involving patients with chondrodysplasias and their families, an assessment battery of standardised instruments designed to measure depression, anxiety, self-esteem, personal support networks, marital adjustment, and family structure were completed by patients and, in many cases, their sibs, spouses, and/or parents. This first in a series of six papers reports the results of a Life-Styles Questionnaire which provides some insights into the levels of satisfaction with various aspects of life, including friendships, employment, the use of some substances and services, and the impact of the skeletal dysplasia on career, marriage, and childbearing. Results are presented for patients and the unaffected parents of patients. Overall, the study has shown a high level of satisfaction with many aspects of life. However, there are important differences in attitudes between the married and unmarried patients, and in some cases the unaffected parents, in a number of areas including health, overall satisfaction with life, and concerns surrounding child bearing and employment. PMID:9637414

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

    PubMed Central

    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

    2012-01-01

    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. PMID:22253471

  4. Short-limbed dwarfism: slw is a new allele of Npr2 causing chondrodysplasia.

    PubMed

    Sogawa, Chizuru; Tsuji, Takehito; Shinkai, Yusuke; Katayama, Kentaro; Kunieda, Tetsuo

    2007-01-01

    Short-limbed dwarfism (SLW) is a new mutant mouse characterized by a dwarf phenotype with markedly short body, limbs, and tail. In the present study, we investigated the skeletal phenotypes of the SLW mouse and determined the chromosomal localization to identify the gene responsible for the phenotypes (slw). Skeletal preparations stained with alcian blue and alizarin red revealed that longitudinal growth of the extremities of the affected (slw/slw) mice was significantly reduced in comparison with that of normal mice, whereas the positions and numbers of skeletal elements were normal. Histological examination of tibial growth plates of the affected mice showed that the numbers of proliferating and hypertrophic chondrocytes were obviously diminished. These phenotypes resembled to those of human chondrodysplasias caused by defective chondrocyte proliferation and differentiation. We mapped the slw locus on an 11.7-cM interval of the proximal region of mouse chromosome 4 by linkage analysis. Furthermore, allelism test using Npr2(cn) locus, a mutant allele of Npr2 gene encoding a natriuretic peptide receptor B, revealed that slw locus is an allele of the Npr2 gene. These results suggest that the dwarf phenotype of the SLW mouse is caused by the disturbed endochondral ossification, and a mutation in the Npr2 gene is expected to be responsible for the phenotypes of the SLW mouse. PMID:17728275

  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. PMID:26152897

  7. Congenital Rubella Syndrome with Blueberry Muffin Lesions and Extensive Metaphysitis

    PubMed Central

    Nangia, Sushma; Dubey, Bhavna Sharma

    2014-01-01

    We report a case of Congenital Rubella Syndrome (CRS) in a newborn. The baby had blueberry muffin skin lesions, long bone metaphysitis and congenital heart defects. With this case report we would like to highlight the existence of congenital rubella syndrome in the community, prompt the clinicians to make a diagnosis of CRS in children with suggestive clinical signs, and to create awareness against this vaccine- preventable disease and consideration to include MMR vaccination in nation immunization schedule. PMID:25654000

  8. Congenital rubella syndrome with blueberry muffin lesions and extensive metaphysitis.

    PubMed

    Ajij, Mohemmed; Nangia, Sushma; Dubey, Bhavna Sharma

    2014-12-01

    We report a case of Congenital Rubella Syndrome (CRS) in a newborn. The baby had blueberry muffin skin lesions, long bone metaphysitis and congenital heart defects. With this case report we would like to highlight the existence of congenital rubella syndrome in the community, prompt the clinicians to make a diagnosis of CRS in children with suggestive clinical signs, and to create awareness against this vaccine- preventable disease and consideration to include MMR vaccination in nation immunization schedule. PMID:25654000

  9. 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.

  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. PMID:24081578

  11. 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.

  12. 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. PMID:23409985

  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. PMID:20157998

  14. 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.

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

    DOE PAGESBeta

    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 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

  16. 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.

  17. 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.

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

    PubMed Central

    Hästbacka, J.; Superti-Furga, A.; Wilcox, W. R.; Rimoin, D. L.; Cohn, D. H.; Lander, E. S.

    1996-01-01

    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. Images Figure 1 Figure 2 Figure 4 Figure 5 Figure 3 Figure 6 PMID:8571951

  19. 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.

  20. 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. PMID:25312387

  1. 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.

  2. Indentation Schmid factor and orientation dependence of nanoindentation pop-in behavior of NiAl single crystals

    SciTech Connect

    Li, Tianlei; Gao, Yanfei; Bei, Hongbin; George, Easo P

    2011-01-01

    Instrumented nanoindentation techniques have been widely used to characterize the small-scale mechanical behavior of materials. The elastic-plastic transition during nanoindentation is often indicated by a sudden displacement burst (pop-in) in the measured load-displacement curve. In defect-free single crystals, the pop-in is believed to be the result of homogeneous dislocation nucleation because the maximum shear stress corresponding to the pop-in load approaches the theoretical strength of the materials and because the statistical distribution of pop-in stresses is consistent with what is expected for a thermally activated process of homogeneous dislocation nucleation. This paper investigates whether this process is affected by crystallography and stress components other than the resolved shear stress. A Stroh formalism coupled with the two-dimensional Fourier transformation is used to derive the analytical stress fields in elastically anisotropic solids under Hertzian contact, which allows the determination of an indentation Schmid factor, namely, the ratio of maximum resolved shear stress to the maximum contact pressure. Nanoindentation tests were conducted on B2-structured NiAl single crystals with different surface normal directions. This material was chosen because it deforms at room temperature by {110}<001> slip and thus avoids the complexity of partial dislocation nucleation. Good agreement is obtained between the experimental data and the theoretically predicted orientation dependence of pop-in loads based on the indentation Schmid factor. Pop-in load is lowest for indentation directions close to <111> and highest for those close to <001>. In nanoindentation, since the stress component normal to the slip plane is typically comparable in magnitude to the resolved shear stress, we find that the pressure sensitivity of homogeneous dislocation nucleation cannot be determined from pop-in tests. Our statistical measurements generally confirm the thermal

  3. 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. PMID:18354118

  4. 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

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

    PubMed

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

  6. 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

  7. Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype.

    PubMed

    Karniski, L P

    2001-07-01

    The diastrophic dysplasia sulfate transporter (DTDST) gene encodes a transmembrane protein that transports sulfate into chondrocytes to maintain adequate sulfation of proteoglycans. Mutations in this gene are responsible for four recessively inherited chondrodysplasias that include diastrophic dysplasia, multiple epiphyseal dysplasia, atelosteogenesis type 2 and achondrogenesis 1B (ACG-1B). To determine whether the DTDST mutations found in individuals with these chondrodysplasias differ functionally from each other, we compared the sulfate transport activity of 11 reported DTDST mutations. Five mutations, G255E, Delta a1751, L483P, R178X and N425D, had minimal sulfate transport function following expression in Xenopus laevis oocytes. Two mutations, Delta V340 and R279W, transported sulfate at rates of 17 and 32%, respectively, of wild-type DTDST. Four mutations, A715V, C653S, Q454P and G678V, had rates of sulfate transport nearly equal to that of wild-type DTDST. Transport kinetics were not different among the four mutations with near-normal sulfate transport function and wild-type DTDST. When the sulfate transport function of the different DTDST mutations are grouped according to the general phenotypes, individuals with the most severe form, ACG-1B, tend to be homozygous for null mutations, individuals with the moderately severe atelosteogenesis type 2 have at least one allele with a loss-of-function mutation, and individuals with the mildest forms are typically homozygous for mutations with residual sulfate transport function. However, in the X.laevis oocyte expression system, the correlation between residual transport function and the severity of phenotype was not absolute, suggesting that factors in addition to the intrinsic sulfate transport properties of the DTDST protein may influence the phenotype in individuals with DTDST mutations. PMID:11448940

  8. On Some Troubles with the Metaphysics of Fermionic Compositions

    NASA Astrophysics Data System (ADS)

    Bigaj, Tomasz

    2016-05-01

    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.

  9. 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.

  10. 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. PMID:23878348

  11. 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

  12. 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

  13. 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. PMID:17324810

  14. 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. PMID:27489576

  15. 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. PMID:26487111

  16. 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. PMID:1435396

  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. Non-collagenous protein screening in the human chondrodysplasias: link proteins, cartilage oligomeric matrix protein (COMP), and fibromodulin.

    PubMed

    Stanescu, V; Do, T P; Chaminade, F; Maroteaux, P; Stanescu, R

    1994-05-15

    A gel-electrophoretic screening for link proteins, cartilage oligomeric matrix protein (COMP), and fibromodulin abnormalities was performed in fetuses, newborn infants, and children with various types of chondrodysplasia. Microdissected freeze-dried sections of upper tibial growth cartilage were extracted with 4M guanidinium chloride in the presence of proteolysis inhibitors. After dialysis against 8M urea, the extracts were submitted to stepwise ion-exchange chromatography to separate the large proteoglycans (aggrecans) from the other components. The latter were analyzed by gel electrophoresis, electrotransferred onto nitrocellulose membranes, and reacted with specific antibodies. Control samples from individuals with apparently normal growth were analyzed in the same runs. Two link protein bands with abnormal electrophoretic migration were found in a sporadic case of spondylometaphyseal dysplasia, Kozlowski type. Three link protein bands with the same migration as in the control samples were found in thanatophoric dysplasia, homozygous achondroplasia, achondrogenesis type II, hypochondrogenesis, Goldblatt syndrome, Desbuquois dysplasia, pseudoachondroplasia, and diastrophic dysplasia. In several pathologic cases with normal electrophoretic pattern of the link proteins, small link protein fragments appeared after reduction. The gel electrophoretic pattern of COMP was studied in thanatophoric dysplasia, diastrophic dysplasia, homozygous achondroplasia, fibrochondrogenesis, hypochondrogenesis, Goldblatt syndrome, and Kniest dysplasia. In all these cases the pattern was the same as in the control samples. The main band of fibromodulin had a normal migration rate in fibrochondrogenesis, Desbuquois dysplasia, Kniest dysplasia, and pseudoachondroplasia. It was delayed in diastrophic dysplasia. PMID:8030664

  19. 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.; Lehnert, Klaus

    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

  20. A single-base change in the tyrosine kinase II domain of ovine FGFR3 causes hereditary chondrodysplasia in sheep.

    PubMed

    Beever, J E; Smit, M A; Meyers, S N; Hadfield, T S; Bottema, C; Albretsen, J; Cockett, N E

    2006-02-01

    Ovine hereditary chondrodysplasia, or spider lamb syndrome (SLS), is a genetic disorder that is characterized by severe skeletal abnormalities and has resulted in substantial economic losses for sheep producers. Here we demonstrate that a non-synonymous T>A transversion in the highly conserved tyrosine kinase II domain of a positional candidate gene, fibroblast growth factor receptor 3 (FGFR3), is responsible for SLS. We also demonstrate that the mutant FGFR3 allele has an additive effect on long-bone length, calling into question the long-standing belief that SLS is inherited as a strict monogenic, Mendelian recessive trait. Instead, we suggest that SLS manifestation is determined primarily by the presence of the mutant FGFR3 allele, but it is also influenced by an animal's genetic background. In contrast to FGFR3 mutations causing dwarfism in humans, this single-base change is the only known natural mutation of FGFR3 that results in a skeletal overgrowth phenotype in any species. PMID:16441300

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

    PubMed

    Waringer, Johann; Lubini, Verena; Hoppeler, Felicitas; Pauls, Steffen U

    2015-01-01

    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 flexible 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 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 countries, 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; and A. helvetica is restricted to the Alps and has been recorded only in Switzerland. PMID:26624099

  2. 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

  3. Distal Metaphyseal Ulnar Shortening Osteotomy: Technique, Pearls, and Outcomes

    PubMed Central

    Khouri, Joseph S.; Hammert, Warren C.

    2014-01-01

    Background Ulnar sided wrist pain is a commonly encountered complaint of the hand surgeon, and ulnar impaction is a common cause. Surgical treatment aims to reduce the force transmitted through the ulna and traditionally includes diaphyseal ulnar shortening osteotomy and the “wafer” procedure. These procedures have known shortcomings. We describe an alternative option known as the distal metaphyseal ulnar shortening osteotomy (DMUSO). Materials and Methods Retrospective review of eight procedures was undertaken to assess radiographic healing, objective measurements of wrist and forearm motion, grip and pinch strength, and subjective measures of Disabilities of the Arm, Shoulder, and Hand (DASH), Patient-Rated Wrist Evaluation (PRWE), and Michigan Hand Outcomes Questionnaire (MHQ) at a minimum of 12 months following surgery. Description of Technique A wedge osteotomy is made in the osteochondral region of the distal metaphysis of the ulna, and a headless compression screw is used for fixation. Results Five women and three men underwent DMUSO with average follow up at 13 months; the dominant wrist was affected in 7 of 8 patients. The affected wrist had less motion in all planes, and grip and pinch strength was also less in the affected wrist, but only wrist extension was significantly different from the contralateral side. These findings likely did not have an effect on the clinical outcome. Subjective outcomes included average DASH score of 13 (0–35), PRWE 19 (40–11), and MHQ score of 88 (85–100). Conclusions DMUSO is a viable option for patients with ulnar impaction syndrome. It requires intra-articular exposure of the distal radioulnar joint (DRUJ) but is less invasive then diaphyseal shortening. It permits early and reliable return of joint motion and function while avoiding the potential need for hardware removal by using a buried screw. PMID:25097810

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

    PubMed

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

    2006-06-01

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

  5. 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

  6. A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype.

    PubMed

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

    2005-03-15

    Mutations in the diastrophic dysplasia sulfate transporter (DTDST or SLC26A2) cause a family of recessively inherited chondrodysplasias including, in order of decreasing severity, achondrogenesis 1B, atelosteogenesis 2, diastrophic dysplasia (DTD) and recessive multiple epiphyseal dysplasia. The gene encodes a widely distributed sulfate/chloride antiporter of the cell membrane whose function is crucial for the uptake of inorganic sulfate, which is needed for proteoglycan sulfation. To provide new insights in the pathogenetic mechanisms leading to skeletal and connective tissue dysplasia and to obtain an in vivo model for therapeutic approaches to DTD, we generated a Dtdst knock-in mouse with a partial loss of function of the sulfate transporter. In addition, the intronic neomycine cassette in the mutant allele contributed to the hypomorphic phenotype by inducing abnormal splicing. Homozygous mutant mice were characterized by growth retardation, skeletal dysplasia and joint contractures, thereby recapitulating essential aspects of the DTD phenotype in man. The skeletal phenotype included reduced toluidine blue staining of cartilage, chondrocytes of irregular size, delay in the formation of the secondary ossification center and osteoporosis of long bones. Impaired sulfate uptake was demonstrated in chondrocytes, osteoblasts and fibroblasts. In spite of the generalized nature of the sulfate uptake defect, significant proteoglycan undersulfation was detected only in cartilage. Chondrocyte proliferation and apoptosis studies suggested that reduced proliferation and/or lack of terminal chondrocyte differentiation might contribute to reduced bone growth. The similarity with human DTD makes this mouse strain a useful model to explore pathogenetic and therapeutic aspects of DTDST-related disorders. PMID:15703192

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

    PubMed

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

    2016-01-01

    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. PMID:27245543

  8. Lethal neonatal chondrodysplasias in the West of Scotland 1970-1983 with a description of a thanatophoric, dysplasialike, autosomal recessive disorder, Glasgow variant.

    PubMed

    Connor, J M; Connor, R A; Sweet, E M; Gibson, A A; Patrick, W J; McNay, M B; Redford, D H

    1985-10-01

    Complete ascertainment of lethal neonatal short-limb chondrodysplasias was attempted in the West of Scotland for the period 1970-1983. Forty-three cases were identified, representing a minimum incidence of 1 in 8,900. The differential diagnosis included 11 well-delineated skeletal dysplasias, one case of warfarin embryopathy, and one apparently new condition with presumed autosomal recessive inheritance that has radiographic similarities to those of thanatophoric dysplasia (TD). In this series TD had an incidence of 1 in 42,221, which is consistent with new dominant mutation at a rate of 11.8 +/- 4.1 X 10(-6) mutations per gene per generation. Ultrasonic measurement of fetal long bone length was performed in eight subsequent pregnancies at risk. Five unaffected fetuses were predicted correctly and three affected fetuses were detected during the second trimester (one with rhizomelic chondrodysplasia punctata-second trimester prenatal diagnosis not previously reported; one with achondrogenesis type II; and one with the new lethal condition). PMID:3901754

  9. The Dialogue of Metaphysics and Empirics: Librarianship as Platonic and Aristotelian.

    ERIC Educational Resources Information Center

    Bergen, Dan

    Arguing that most writing on library and information service is empirical or devoted to reporting what happened, this paper attempts to promote conversation between the empiricists and the idealists or metaphysicians of library and information studies. The paper includes the following sections: (1) Professor Peter Kien and the Metaphysical Course…

  10. 10 years results of an uncemented metaphyseal fit modular stem in elderly patients

    PubMed Central

    De la Torre, Basilio J; Chaparro, Manuel; Romanillos, Juan O; Zarzoso, Sara; Mosquera, Margarita; Rodriguez, Gil

    2011-01-01

    Background: There are concerns with regard to the femoral fixation in cementless total hip arthroplasty in elderly patients. We report a retrospective analysis of clinical and radiological results of uncemented metaphyseal fit modular stem in elderly patients irrespective of anatomic characterstics of proximal femur. Materials and Methods: This study reviews the outcomes of 60 primary hip replacements using a metaphyseal fit modular stem (third-generation Omniflex stem) conducted in 54 patients, of age 75 years or older. After a mean follow-up of 10,4 years, complete clinical and radiographic records were available for 52 hips of 48 patients. The patients were evaluated by Harris Hip Score (HHS). Results: There was a significantly improved pain score and Harris Hip Score (41,6 to 83,2). Six stems (11.53%) were revised: four because of periprosthetic fracture; one stem was well fixed, but presented a large osteolytic lesion in the metaphyseal area and the last stem was revised because of aseptic loosening. Stem survival taking aseptic loosening as the end-point was 98%. Bone atrophy in the proximal femur caused by stress shielding was observed in 39 stems (75%), but there was no case of subtrochanteric stress shielding. Moreover, atrophy appeared within two years postoperatively, with no extension thereafter. Conclusions: We achieved good clinical and radiographic results by uncemented metaphyseal fit femoral stem regardless of patient's age and femoral canal type. PMID:21772630

  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. PMID:21597083

  12. 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.

  13. 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. PMID:17152746

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

    PubMed Central

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

    2016-01-01

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

  15. 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. PMID:19203011

  16. Distal Tibial Metaphyseal Fractures: Does Blocking Screw Extend the Indication of Intramedullary Nailing?

    PubMed Central

    Moongilpatti Sengodan, Mugundhan; Vaidyanathan, Singaravadivelu; Karunanandaganapathy, Sankaralingam; Subbiah Subramanian, Sukumaran; Rajamani, Samuel Gnanam

    2014-01-01

    Aim. To evaluate the clinical use of blocking screws as a supplement to stability in distal tibial metaphyseal fractures treated with statically locked intramedullary nail. Main Outcome Measurement. Alignment and reduction preoperatively, postoperatively, and at healing were the main outcome measured with an emphasis on maintenance of initial reduction on followup. Patients and Methods. This was a prospective study of 20 consecutive cases of distal tibial metaphyseal fractures treated with statically locked intramedullary nailing with supplementary blocking screw between August 2006 and September 2007 with a maximum followup of 3 years. Medullary canal diameter was measured at the levels of fracture and isthmus. Results. The mean diameter of tibia at the level of isthmus was 11.9 mm and at the fracture site was 22.9 mm. Mean length of distal fracture segment was 4.6 cm. Mean varus/valgus alignment was 10.3 degrees preoperatively and 1.7 degrees immediatly postoperatively and was maintained till union. Using Karlstrom-Olerud score the outcome was excellent to good in 90%. Conclusion. We conclude that the use of blocking screw as a supplement will aid in achieving and maintaining the reduction of distal tibial metaphyseal fractures when treated with intramedullary nailing thereby extending the indication of intramedullary nailing. PMID:24967128

  17. LCP metaphyseal plate fixation for fractures of the distal third humeral shaft using brachialis splitting approach.

    PubMed

    Lee, Sang Ki; Yang, Dae Suk; Chang, Shann Haw; Choy, Won Sik

    2016-03-01

    The authors retrospectively studied the clinical and radiographic outcomes of locking compressive plate (LCP) metaphyseal plate fixation through the anterolateral approach in patients treated surgically for unstable distal third humeral shaft fractures. Twenty seven patients were treated surgically with LCP metaphyseal plate using brachialis splitting methods through the anterolateral approach. The mean arc of elbow motion was 132.4° with a mean flexion of 133.5° and mean flexion contracture of 1.1°. Three patients had a slight elbow flexion contracture with loss of 5° (n=1), 10° (n=1), and 15° (n=1) of extension. The mean American Shoulder and Elbow Surgeons score was 92.6 points, which corresponded to excellent results in 26 shoulders and a good result in one. The mean Mayo Elbow Performance Score was 90.7 points, which corresponded to excellent results in 24 elbows, a good result in 2, and a fair result in 1. Treatment of distal third humeral shaft fracture using LCP metaphyseal plate through the anterolateral approach is an acceptable and alternative method that can provide good results. PMID:26984659

  18. Paradoxical Sost gene expression response to mechanical unloading in metaphyseal bone.

    PubMed

    Macias, Brandon R; Aspenberg, Per; Agholme, Fredrik

    2013-04-01

    The Sost gene encodes Sclerostin, an inhibitor of Wnt-signaling, generally considered a main response gene to mechanical loading in bone. Several papers describe that unloading leads to upregulation of Sost, which in turn may lead to loss of bone. These studies were based on whole bone homogenates or cortical bone. By serendipity, we noted an opposite response to unloading in the proximal rat tibia. Therefore, we hypothesized that Sost-expression in response to changes in mechanical load is bone site specific. One hind limb of male, 3 month old rats was unloaded by paralyzing the extensors with Botulinium toxin A (Botox) injections. A series of experiments compared the expression of Sost mRNA in the unloaded and contralateral, loaded limbs, after 3 or 10 days, in metaphyseal cancellous bone, metaphyseal cortical bone, and diaphyseal cortical bone. We also conducted μCT to confirm changes in bone volume density related to unloading. Sost mRNA expression in the cancellous metaphyseal bone was downregulated almost 2-fold, both 3 days and 10 days after unloading (P<0.05). A similar tendency was seen in the metaphyseal cortical bone, in which Sost was 1.5-fold downregulated (P<0.05) after 10days, but not significantly changed after 3days. In contrast, diaphyseal cortical Sost expression was instead upregulated 1.4-fold (P<0.05) following 3-day unloading, while there was no significant change after 10days. Cancellous bone volume density was 58% lower (P<0.001, compared to cage controls) in the unloaded limb but not significantly affected in the loaded limb. The results suggest that Sost mRNA expression in metaphyseal bone responds to mechanical unloading in an opposite direction to that observed in diaphyseal cortical bone. This proposes a more complex expression pattern for Sost in response to unloading. Therapeutics that target Sclerostin during altered loading conditions may result in local bone mass changes that are difficult to predict. PMID:23337040

  19. 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 Central

    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

    2015-01-01

    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. PMID:26001784

  20. Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: relationship to clinical severity and indications on the role of intracellular sulfate production.

    PubMed

    Rossi, A; Kaitila, I; Wilcox, W R; Rimoin, D L; Steinmann, B; Cetta, G; Superti-Furga, A

    1998-10-01

    Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene have been associated with a family of chondrodysplasias that includes diastrophic dysplasia (DTD), atelosteogenesis type 2 (AO2) and the lethal condition achondrogenesis type 1B (ACG1B). There is a correlation between the nature of the mutations and the clinical phenotype, but our understanding of the pathophysiology of the disorder, which involves defective sulfation of cartilage proteoglycans, is far from complete. To evaluate the degree of proteoglycan undersulfation in vivo, we have extracted chondroitin sulfate proteoglycans from cartilage of twelve patients with sulfate transporter chondrodysplasias and analyzed their disaccharide composition by HPLC after digestion with chondroitinase ABC. The amount of non-sulfated disaccharide was elevated in patients' samples (controls, 5.5%+/-2.8 (n=10); patients, 11% to 77%), the highest amount being present in ACG1B patients, indicating that undersulfation of chondroitin sulfate proteoglycans occurs in cartilage in vivo and is correlated with the clinical severity. To investigate further the biochemical mechanisms responsible for the translation of genotype to phenotype, we have studied fibroblast cultures of patients with DTD, AO2 and ACG1B, and controls, by double-labelling with [35S]sulfate and [3H]glucosamine. The incorporation of extracellular sulfate, estimated by the 35S/3H ratio in proteoglycans, was reduced in all patients' cells, with ACG1B cells showing the lowest values. However, disaccharide analysis of chondroitin sulfate proteoglycans showed that these were normally sul fated or only moderately undersulfated; marked undersulfation was observed only after addition of the artificial glycosaminoglycan-chain initiator, beta-D-xyloside, to the culture medium. These results suggest that, while utilization of extracellular sulfate is impaired, fibroblasts can replenish their intracellular sulfate pool by oxidizing sulfur

  1. The Short-term Clinical Outcome of Total Hip Arthroplasty Using Short Metaphyseal Loading Femoral Stem

    PubMed Central

    Choi, Yoo Wang

    2016-01-01

    Purpose The purpose of this study was to retrospectively evaluate the short-term clinical and radiological outcomes of total hip arthroplasty (THA) with short metaphyseal loading femoral stem. Materials and Methods We retrospectively reviewed the records of 56 cases in 47 patients who had undergone THA with short metaphyseal loading femoral stem from April 2010 to December 2011. There were 20 males and 27 females. The mean age was 54 years (range, 26-77 years). The average follow up period was 4.6 years. Clinical results were evaluated by Harris hip scores (HHS) before the operation and at the last follow-up. Radiographic analysis was done by evaluating osteolysis, loosening, stress shielding, and alignement. Results The mean HHS significantly improved from 45 (range, 15-58) preoperatively to 98 (range, 85-100) at the last follow-up. In radiographic analyses, there was no evidence of osteolysis or loosening around the stems and the acetabuluar components. All cases showed rounding off of the calcar, grade 1 bone resorption of the proximal femur. With regard to implant alignment, 51 femoral component (91.1%) were in neutral position, and 5 (8.9%) were in varus position. There was 1 intraoperative fracture treated by cerclage wiring and no case was revised during follow-up period. Conclusion Although longer follow-up is needed to confirm the durability of the short metaphyseal loading femoral stem, this short stem might provide stable fixation without diaphyseal fixation and demonstrated good clinical result at mean 4.6 year short term follow-up. PMID:27536649

  2. 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

  3. Does Metaphyseal Cement Augmentation in Fracture Management Influence the Adjacent Subchondral Bone and Joint Cartilage?

    PubMed Central

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

    2015-01-01

    Abstract 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. PMID:25621690

  4. 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

  5. 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

  6. 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.

  7. 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. PMID:24444570

  8. 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.

  9. Osteosclerotic metaphyseal dysplasia with extensive interstitial pulmonary lesions: a case report and literature review.

    PubMed

    Zheng, Helin; Cai, Jinhua; Wang, Longlun; He, Xiaoya

    2015-10-01

    Osteosclerotic metaphyseal dysplasia (OMD) is a very rare sclerosing bone disorder. To date, four cases have been documented in three reports. Here, we present the case of a 12-year-old girl with a history of recurrent respiratory infections, hypotonia, developmental delay, genu valgum, and hepatosplenomegaly. Radiographs revealed profound, ivory-white sclerosis of the metaphyses and epiphyses of the long bones in both the upper and lower extremities. Sclerosis also affected the ends or margins of the flat bones, including the mandible, clavicles, scapulae, ribs, iliac crests, ischia, pubic bones, talus, calcaneus, and some vertebrae, to varying degrees. Based on the clinical, radiographic, and laboratory findings, a diagnosis of OMD was made. Our patient is the fifth case of OMD reported in the international literature and shares clinical and radiological similarities with four other reported cases of OMD. However, the extensive interstitial pulmonary lesions observed on computed tomography images in the present case have not been previously documented. This pulmonary disorder, which may be associated with OMD, should be evaluated in subsequently encountered cases. PMID:26084987

  10. 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.

  11. 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. PMID:11218925

  12. Normal spinous process metaphyseal-equivalent lucency simulating infant abuse fractures.

    PubMed

    Oestreich, Alan E; Anton, Christopher G

    2015-10-01

    We report a normal radiographic finding that may be mistaken for child abuse trauma in the posterior thoracolumbar spinous processes of young infants after the first week of life. A lucency paralleling the posterior margin of the ossified spinous process is equivalent to the metaphyseal lucent bands seen normally after about a week of the child's age at the ends of long tubular bones. A similar lucency is seen just under the growth plate of vertebral bodies at that early age, giving the bone-in-bone appearance. Our index case was imaged at 3 weeks and then at 5 weeks of age, with no evidence of periosteal reaction or endosteal callus on that follow-up study, confirming the lack of fractures. PMID:26051806

  13. Borrowed philosophy: bedside physicalism and the need for a sui generis metaphysic of medicine.

    PubMed

    Whatley, Shawn D

    2014-12-01

    The character of medicine has changed over the last 100 years such that medicine is more interested in diseases than the people who suffer from them. Despite notable efforts to address this, the medical humanities do not challenge doctors' fundamental view of the world. Students adopt a metaphysic of physicalism during basic science training that gets carried into medical training. While necessary for medical science, physicalism is insufficient for clinical care. Physicalism offers no foundation for the sine qua non of medicine, the doctor-patient relationship. The character of medicine will not see a renewed interest in humanity until educators address the insufficiency of physicalism for clinical care, and clinicians partner with experts in the humanities to build a sui generis philosophy of medicine. PMID:25040366

  14. Mechanical Failure of Revision Knee Prosthesis at both Femoral and Tibial Modular Metaphyseal Stem Junctions

    PubMed Central

    Woodgate, Ian G; Rooney, John; Mulford, Johnathan S; Gillies, R Mark

    2016-01-01

    Introduction: This is a report of a mechanical failure of an S-ROM revision total knee prosthesis. The prosthesis was used as a revision implant following deep peri-prosthetic infection in a morbidly obese male. The prosthesis failed on both the femoral and tibial sides at the modular metaphyseal stem junctions and required a further revision using the same type of implant after infection was excluded. Case Presentation: A 57 year old male had previously undergone a left total knee arthroplasty in 1999 for osteoarthritis. He acquired a late deep peri-prosthetic infection with a multi-resistant Staphylococcus epidermidis. The organism was sensitive to vancomycin and rifampicin. A two stage revision was undertaken after clinical signs of infection had resolved and blood parameters had normalized. Intra-operative gram stain was negative for micro-organisms and frozen section of deep tissue was less than five polymorphs per high power field. A cemented S-ROM prosthesis was implanted using a coronal tibial osteotomy and a lateral release for exposure. After three years of the second stage of revision, the patient again presented to the orthopaedic department after reportedly falling on a wet floor six weeks ago. Conclusion: Radiographically, there was a broken tibial wire, osteolysis and pedestal formation around both the femoral and distal tibial stem extensions. The prosthesis was bent at the proximal tibial sleeve and stem junction. The prosthesis was considered loose with mechanical failure. At implant removal, it was noted that the femoral and tibial components at the modular metaphyseal sleeve-stem junction were fractured. Surgeons should be cautious in the use of these implants in morbidly obese patients where the stresses generated maybe above the yield stress of the material and the frictional forces that may overcome the modular taper junction’s locking mechanism. PMID:27299124

  15. Stress analysis of a condylar knee tibial component: influence of metaphyseal shell properties and cement injection depth.

    PubMed

    Cheal, E J; Hayes, W C; Lee, C H; Snyder, B D; Miller, J

    1985-01-01

    We generated three-dimensional finite element models of the proximal tibia with an implanted tibial component. The component features a cobalt-chromium tray with four short vertical posts and a porous-coated surface for improved fixation to polymethylmethacrylate (PMMA). We examined the stresses after varying: the structural rigidity of the metaphyseal cortical shell; the surface area of the cobalt-chromium tray; and the depth of pressure-injected PMMA bone cement. Our results indicate that previous finite element models of prosthetic tibial components have overestimated the structural contribution of the metaphyseal cortical shell by a factor of approximately 6. A standard size tray, in contrast to a tray that extends to the cortical shell, does not significantly alter the axial load distribution but could result in bone resorption beyond the tray periphery. An important consequence of the component peg locations is that they direct the compressive stresses into dense regions of trabeculae that run from the subchondral articular surface to the metaphyseal-diaphyseal junction. The use of a modified von Mises failure criterion suggests that at excessive load levels the most likely location of material failure is at the bone cement-trabecular bone interface immediately distal to the fixation posts. Due to its added rigidity, injection of cement beyond the fixation posts results in slightly increased stresses in this region, but these stress increases are compensated for by an increased strength of the cement-bone composite. PMID:4067701

  16. 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. PMID:20718261

  17. 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.

  18. 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.

  19. 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. PMID:19442927

  20. 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.

  1. 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. PMID:25643547

  2. 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.

  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. A randomised trial comparing a short and a standard-length metaphyseal engaging cementless femoral stem using radiostereometric analysis.

    PubMed

    McCalden, R W; Korczak, A; Somerville, L; Yuan, X; Naudie, D D

    2015-05-01

    This was a randomised controlled trial studying the safety of a new short metaphyseal fixation (SMF) stem. We hypothesised that it would have similar early clinical results and micromovement to those of a standard-length tapered Synergy metaphyseal fixation stem. Using radiostereometric analysis (RSA) we compared the two stems in 43 patients. A short metaphyseal fixation stem was used in 22 patients and a Synergy stem in 21 patients. No difference was found in the clinical outcomes pre- or post-operatively between groups. RSA showed no significant differences two years post-operatively in mean micromovement between the two stems (except for varus/valgus tilt at p = 0.05) (subsidence 0.94 mm (SD 1.71) vs 0.32 mm (SD 0.45), p = 0.66; rotation 0.96° (SD 1.49) vs 1.41° (SD 2.95), p = 0.88; and total migration 1.09 mm (SD 1.74) vs 0.73 mm (SD 0.72), p = 0.51). A few stems (four SMF and three Synergy) had initial migration > 1.0 mm but stabilised by three to six months, with the exception of one SMF stem which required revision three years post-operatively. For most stems, total micromovement was very low at two years (subsidence < 0.5 mm, rotation < 1.0°, total migration < 0.5 mm), which was consistent with osseous ingrowth. The small sample makes it difficult to confirm the universal applicability of or elucidate the potential contraindications to the use of this particular new design of stem. PMID:25922451

  5. 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. PMID:27149441

  6. 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. PMID:27590423

  7. 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. PMID:20872883

  8. 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.

  9. Bone formation induced by strontium modified calcium phosphate cement in critical-size metaphyseal fracture defects in ovariectomized rats.

    PubMed

    Thormann, Ulrich; Ray, Seemun; Sommer, Ursula; Elkhassawna, Thaqif; Rehling, Tanja; Hundgeburth, Marvin; Henß, Anja; Rohnke, Marcus; Janek, Jürgen; Lips, Katrin S; Heiss, Christian; Schlewitz, Gudrun; Szalay, Gabor; Schumacher, Matthias; Gelinsky, Michael; Schnettler, Reinhard; Alt, Volker

    2013-11-01

    The first objective was to investigate new bone formation in a critical-size metaphyseal defect in the femur of ovariectomized rats filled with a strontium modified calcium phosphate cement (SrCPC) compared to calcium phosphate cement (CPC) and empty defects. Second, detection of strontium release from the materials as well as calcium and collagen mass distribution in the fracture defect should be targeted by time of flight secondary ion mass spectrometry (TOF-SIMS). 45 female Sprague-Dawley rats were randomly assigned to three different treatment groups: (1) SrCPC (n = 15), (2) CPC (n = 15), and (3) empty defect (n = 15). Bilateral ovariectomy was performed and three months after multi-deficient diet, the left femur of all animals underwent a 4 mm wedge-shaped metaphyseal osteotomy that was internally fixed with a T-shaped plate. The defect was then either filled with SrCPC or CPC or was left empty. After 6 weeks, histomorphometric analysis showed a statistically significant increase in bone formation of SrCPC compared to CPC (p = 0.005) and the empty defect (p = 0.002) in the former fracture defect zone. Furthermore, there was a statistically significant higher bone formation at the tissue-implant interface in the SrCPC group compared to the CPC group (p < 0.0001). These data were confirmed by immunohistochemistry revealing an increase in bone-morphogenic protein 2, osteocalcin and osteoprotegerin expression and a statistically significant higher gene expression of alkaline phosphatase, collagen10a1 and osteocalcin in the SrCPC group compared to CPC. TOF-SIMS analysis showed a high release of Sr from the SrCPC into the interface region in this area compared to CPC suggesting that improved bone formation is attributable to the released Sr from the SrCPC. PMID:23906515

  10. Results of revision total hip arthroplasty with modular, titanium-tapered femoral stems in severe proximal metaphyseal and diaphyseal bone loss.

    PubMed

    Palumbo, Brian T; Morrison, Kurt L; Baumgarten, Adam S; Stein, Mathew I; Haidukewych, George J; Bernasek, Thomas L

    2013-04-01

    Evidence supporting modular, tapered stems for severe proximal metaphyseal and diaphyseal bone loss is limited. We report our clinical experience with its use for severely deficient femurs. Of 211 revision total hip arthroplasties (THAs), 18 tapered, modular titanium stems were implanted in Paprosky type III and IV femurs. Clinical data were reviewed for function, stability, structural failure and revision surgery at a mean follow-up of 4.5years. The overall survival rate was 94%. One required revision due to infection and subsidence. The mean subsidence was 3.5mm and the mean pre- and post-operative Harris Hip score was 56 and 79, respectively. In surviving cases, patients achieved satisfactory function and there were no mechanical failures. Modular, tapered stems demonstrated acceptable outcomes for management of severe proximal metaphyseal and diaphyseal defects. PMID:23273565

  11. Effects of black cohosh (Cimicifuga racemosa) and estrogen on metaphyseal fracture healing in the early stage of osteoporosis in ovariectomized rats.

    PubMed

    Kolios, Leila; Schumann, Jacob; Sehmisch, Stephan; Rack, Thomas; Tezval, Mohammed; Seidlova-Wuttke, Dana; Frosch, Karl-Heinz; Stuermer, Klaus Michael; Stuermer, Ewa Klara

    2010-06-01

    Osteoporosis and its accompanying, predominantly metaphyseal, fractures are a major health problem. Black cohosh (Cimicifuga racemosa) and estrogen positively influence osteoporotic bone. Both substances may improve fracture healing in early osteoporosis as well. In 48 twelve-week-old ovariectomized or, respectively, sham-operated (SHAM) rats, a standardized metaphyseal tibia osteotomy with bridging T-plate fixation was performed. During the healing process of 35 days, rats received soy-free (SHAM, osteopenic C), estrogen- (E) or Cimicifuga racemosa- (CR) supplemented diets. After sacrifice, the callus formation was analyzed with regard to biomechanical quality, morphology, quantity, time course of new bone built and gene expression. CR induced a high rate of metaphyseal callus formation. The biomechanical properties and the amount of new callus formation indicated that fracture healing was still in progress. Therefore, gene expression of osteoblasts was comparatively high. Body weight and the trabecular structure were influenced little by CR. Estrogen improved the biomechanical properties of the callus. Resistance to microfracturing was significantly enhanced in the E group and even superior to SHAM. Remodeling of the callus formation had already begun. The trabecular network and the typical endosteal fracture healing were especially improved. Osteoporotic metaphyseal fracture healing was improved by estrogen more than by Cimicifuga racemosa. The process of fracture healing occurred nearly physiologically. The generation of callus formation was supported by Cimicifuga racemosa as well, but the five-week duration of application was too short for Cimicifuga racemosa to show its complete potential. Already-initiated Cimicifuga racemosa therapy for menopausal symptoms could be continued during fracture healing without hesitation. PMID:20104444

  12. 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.

  13. 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

    2016-05-01

    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. PMID:26947030

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

    PubMed

    Grant, Michael E

    2007-08-01

    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. Abnormal Compartmentalization of Cartilage Matrix Components in Mice Lacking Collagen X: Implications for Function

    PubMed Central

    Kwan, Kin Ming; Pang, Michael K.M.; Zhou, Sheila; Cowan, Soot Keng; Kong, Richard Y.C.; Pfordte, Tim; Olsen, Bjorn R.; Sillence, David O.; Tam, Patrick P.L.; Cheah, Kathryn S.E.

    1997-01-01

    There are conflicting views on whether collagen X is a purely structural molecule, or regulates bone mineralization during endochondral ossification. Mutations in the human collagen α1(X) gene (COL10A1) in Schmid metaphyseal chondrodysplasia (SMCD) suggest a supportive role. But mouse collagen α1(X) gene (Col10a1) null mutants were previously reported to show no obvious phenotypic change. We have generated collagen X deficient mice, which shows that deficiency does have phenotypic consequences which partly resemble SMCD, such as abnormal trabecular bone architecture. In particular, the mutant mice develop coxa vara, a phenotypic change common in human SMCD. Other consequences of the mutation are reduction in thickness of growth plate resting zone and articular cartilage, altered bone content, and atypical distribution of matrix components within growth plate cartilage. We propose that collagen X plays a role in the normal distribution of matrix vesicles and proteoglycans within the growth plate matrix. Collagen X deficiency impacts on the supporting properties of the growth plate and the mineralization process, resulting in abnormal trabecular bone. This hypothesis would accommodate the previously conflicting views of the function of collagen X and of the molecular pathogenesis of SMCD. PMID:9015315

  16. 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 ...

  17. A Posteriorly Displaced Distal Metaphyseal Clavicular Fracture (Type IV AC Joint Dislocation-Like) in Children: A Case Report and Literature Review Study.

    PubMed

    Kotb, Ahmed; Yong, Taylor; Abdelgawad, Amr

    2016-01-01

    Fractures of the lateral end of the clavicle are common in pediatric patients; most of these fractures occur at the physeal level representing Salter Harris injuries. The vast majority of fractures of the lateral end of the clavicle are managed nonoperatively. In this report, we describe a unique type of fracture of the distal end of the clavicle in the pediatric patients in which the fracture occurs in the metaphyseal lateral clavicle with the proximal edge of the fracture displaced posteriorly through the trapezius muscle causing obvious deformity. It is similar in pathology to type IV AC joint dislocation. In this study we report this injury in eleven-year-old boy. Literature review showed that similar injuries were described before three times (two of them in pediatric patients). Due to the significant clinical deformity of this category with entrapment of the bone through the trapezius muscle, reduction (open or closed) of the fracture is the recommended treatment. PMID:26904336

  18. A Posteriorly Displaced Distal Metaphyseal Clavicular Fracture (Type IV AC Joint Dislocation-Like) in Children: A Case Report and Literature Review Study

    PubMed Central

    Kotb, Ahmed; Yong, Taylor; Abdelgawad, Amr

    2016-01-01

    Fractures of the lateral end of the clavicle are common in pediatric patients; most of these fractures occur at the physeal level representing Salter Harris injuries. The vast majority of fractures of the lateral end of the clavicle are managed nonoperatively. In this report, we describe a unique type of fracture of the distal end of the clavicle in the pediatric patients in which the fracture occurs in the metaphyseal lateral clavicle with the proximal edge of the fracture displaced posteriorly through the trapezius muscle causing obvious deformity. It is similar in pathology to type IV AC joint dislocation. In this study we report this injury in eleven-year-old boy. Literature review showed that similar injuries were described before three times (two of them in pediatric patients). Due to the significant clinical deformity of this category with entrapment of the bone through the trapezius muscle, reduction (open or closed) of the fracture is the recommended treatment. PMID:26904336

  19. 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. PMID:26768293

  20. 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 .

  1. Targeted induction of endoplasmic reticulum stress induces cartilage pathology.

    PubMed

    Rajpar, M Helen; McDermott, Ben; Kung, Louise; Eardley, Rachel; Knowles, Lynette; Heeran, Mel; Thornton, David J; Wilson, Richard; Bateman, John F; Poulsom, Richard; Arvan, Peter; Kadler, Karl E; Briggs, Michael D; Boot-Handford, Raymond P

    2009-10-01

    Pathologies caused by mutations in extracellular matrix proteins are generally considered to result from the synthesis of extracellular matrices that are defective. Mutations in type X collagen cause metaphyseal chondrodysplasia type Schmid (MCDS), a disorder characterised by dwarfism and an expanded growth plate hypertrophic zone. We generated a knock-in mouse model of an MCDS-causing mutation (COL10A1 p.Asn617Lys) to investigate pathogenic mechanisms linking genotype and phenotype. Mice expressing the collagen X mutation had shortened limbs and an expanded hypertrophic zone. Chondrocytes in the hypertrophic zone exhibited endoplasmic reticulum (ER) stress and a robust unfolded protein response (UPR) due to intracellular retention of mutant protein. Hypertrophic chondrocyte differentiation and osteoclast recruitment were significantly reduced indicating that the hypertrophic zone was expanded due to a decreased rate of VEGF-mediated vascular invasion of the growth plate. To test directly the role of ER stress and UPR in generating the MCDS phenotype, we produced transgenic mouse lines that used the collagen X promoter to drive expression of an ER stress-inducing protein (the cog mutant of thyroglobulin) in hypertrophic chondrocytes. The hypertrophic chondrocytes in this mouse exhibited ER stress with a characteristic UPR response. In addition, the hypertrophic zone was expanded, gene expression patterns were disrupted, osteoclast recruitment to the vascular invasion front was reduced, and long bone growth decreased. Our data demonstrate that triggering ER stress per se in hypertrophic chondrocytes is sufficient to induce the essential features of the cartilage pathology associated with MCDS and confirm that ER stress is a central pathogenic factor in the disease mechanism. These findings support the contention that ER stress may play a direct role in the pathogenesis of many connective tissue disorders associated with the expression of mutant extracellular matrix

  2. 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.

  3. 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. PMID:22481609

  4. 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. PMID:26705200

  5. The type II collagenopathies: a spectrum of chondrodysplasias.

    PubMed

    Spranger, J; Winterpacht, A; Zabel, B

    1994-02-01

    With the application of molecular techniques the aetiopathogenesis of skeletal dysplasias is gradually elucidated. Recent advances show that some bone dysplasias result from defects in the biosynthesis of type II (cartilage) collagen. Clinical entities caused by mutations in the COL2A1 gene coding for type II collagen comprise achondrogenesis II, hypochondrogenesis, spondyloepiphyseal dysplasia congenita, Kniest dysplasia, Stickler arthroophthalmopathy and mild dominant spondyloarthropathy. The mutations are expressed in the heterozygous state, and inheritance of type II collagenopathies is autosomal dominant. The wide range of clinical manifestations is not well understood but characterization of the basic defect may provide clues to establish specific genotype-phenotype correlations. PMID:8157027

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

    PubMed Central

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

    2010-01-01

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

  7. "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…

  8. 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. PMID:1286457

  9. 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.

  10. 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…

  11. 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. PMID:26885599

  12. 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.

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

    PubMed

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

    2003-01-01

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

  14. Cartilage-specific overexpression of ERRγ results in Chondrodysplasia and reduced chondrocyte proliferation.

    PubMed

    Cardelli, Marco; Zirngibl, Ralph A; Boetto, Jonathan F; McKenzie, Kristen P; Troy, Tammy-Claire; Turksen, Kursad; Aubin, Jane E

    2013-01-01

    While the role of estrogen receptor-related receptor alpha (ERRα) in chondrogenesis has been investigated, the involvement of ERR gamma (ERRγ) has not been determined. To assess the effect of increased ERRγ activity on cartilage development in vivo, we generated two transgenic (Tg) lines overexpressing ERRγ2 via a chondrocyte-specific promoter; the two lines exhibited ∼3 and ∼5 fold increased ERRγ2 protein expression respectively in E14.5 Tg versus wild type (WT) limbs. On postnatal day seven (P7), we observed a 4-10% reduction in the size of the craniofacial, axial and appendicular skeletons in Tg versus WT mice. The reduction in bone length was already present at birth and did not appear to involve bones that are derived via intramembranous bone formation as the bones of the calvaria, clavicle, and the mandible developed normally. Histological analysis of P7 growth plates revealed a reduction in the length of the Tg versus WT growth plate, the majority of which was attributable to a reduced proliferative zone. The reduced proliferative zone paralleled a decrease in the number of Ki67-positive proliferating cells, with no significant change in apoptosis, and was accompanied by large cell-free swaths of cartilage matrix, which extended through multiple zones of the growth plate. Using a bioinformatics approach, we identified known chondrogenesis-associated genes with at least one predicted ERR binding site in their proximal promoters, as well as cell cycle regulators known to be regulated by ERRγ. Of the genes identified, Col2al, Agg, Pth1r, and Cdkn1b (p27) were significantly upregulated, suggesting that ERRγ2 negatively regulates chondrocyte proliferation and positively regulates matrix synthesis to coordinate growth plate height and organization. PMID:24349082

  15. Cartilage-Specific Overexpression of ERRγ Results in Chondrodysplasia and Reduced Chondrocyte Proliferation

    PubMed Central

    McKenzie, Kristen P.; Troy, Tammy-Claire; Turksen, Kursad; Aubin, Jane E.

    2013-01-01

    While the role of estrogen receptor-related receptor alpha (ERRα) in chondrogenesis has been investigated, the involvement of ERR gamma (ERRγ) has not been determined. To assess the effect of increased ERRγ activity on cartilage development in vivo, we generated two transgenic (Tg) lines overexpressing ERRγ2 via a chondrocyte-specific promoter; the two lines exhibited ∼3 and ∼5 fold increased ERRγ2 protein expression respectively in E14.5 Tg versus wild type (WT) limbs. On postnatal day seven (P7), we observed a 4–10% reduction in the size of the craniofacial, axial and appendicular skeletons in Tg versus WT mice. The reduction in bone length was already present at birth and did not appear to involve bones that are derived via intramembranous bone formation as the bones of the calvaria, clavicle, and the mandible developed normally. Histological analysis of P7 growth plates revealed a reduction in the length of the Tg versus WT growth plate, the majority of which was attributable to a reduced proliferative zone. The reduced proliferative zone paralleled a decrease in the number of Ki67-positive proliferating cells, with no significant change in apoptosis, and was accompanied by large cell-free swaths of cartilage matrix, which extended through multiple zones of the growth plate. Using a bioinformatics approach, we identified known chondrogenesis-associated genes with at least one predicted ERR binding site in their proximal promoters, as well as cell cycle regulators known to be regulated by ERRγ. Of the genes identified, Col2al, Agg, Pth1r, and Cdkn1b (p27) were significantly upregulated, suggesting that ERRγ2 negatively regulates chondrocyte proliferation and positively regulates matrix synthesis to coordinate growth plate height and organization. PMID:24349082

  16. Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type.

    PubMed

    Tiller, G E; Polumbo, P A; Weis, M A; Bogaert, R; Lachman, R S; Cohn, D H; Rimoin, D L; Eyre, D R

    1995-09-01

    The chondrodysplasias are a heterogeneous group of disorders characterized by abnormal growth or development of cartilage. Current classification is based on mode of inheritance as well as clinical, histologic, and/or radiographic features. A clinical spectrum of chondrodysplasia phenotypes, ranging from mild to perinatal lethal, is due to defects in the gene for type II collagen, COL2A1. This spectrum includes Stickler syndrome, Kniest dysplasia, spondyloepiphyseal dysplasia congenita (SEDC), achondrogenesis type II, and hypochondrogenesis. Individuals affected with these disorders exhibit abnormalities of the growth plate, nucleus pulposus, and vitreous humor, which are tissues that contain type II collagen. The Strudwick type of spondyloepimetaphyseal dysplasia (SEMD) is characterized by disproportionate short stature, pectus carinatum, and scoliosis, as well as dappled metaphyses (which are not seen in SEDC). The phenotype was first described by Murdoch and Walker in 1969, and a series of 14 patients was later reported by Anderson et al. The observation of two affected sibs born to unaffected parents led to the classification of SEMD Strudwick as an autosomal recessive disorder. We now describe the biochemical characterization of defects in alpha 1(II) collagen in three unrelated individuals with SEMD Strudwick, each of which is due to heterozygosity for a unique mutation in COL2A1. Our data support the hypothesis that some cases, if not all cases, of this distinctive chondrodysplasia result from dominant mutations in COL2A1, thus expanding the clinical spectrum of phenotypes associated with this gene. PMID:7550321

  17. 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…

  18. 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 & Watkins, 2010a,…

  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. 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. PMID:23547412

  1. 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.

  2. 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. PMID:26523770

  3. 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.

  4. 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. PMID:25070171

  5. 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. PMID:23701955

  6. 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. PMID:21390575

  7. 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.

  8. Hyena disease (premature physeal closure) in calves due to overdose of vitamins A, D3, E.

    PubMed

    Yamamoto, Kenichi; Sadahito, Kobayashi; Yoshikawa, Makoto; Nobuyuki, Onizuka; Mikami, Osamu; Yamada, Manabu; Nakamura, Kikuyasu; Yasuyuki, Nakajima

    2003-03-01

    Holstein suckling calves on a farm manifested severe emaciation, generalized alopecia, dome-like cranial deformation, and high mortality (Case 1). Metaphyseal growth plates of the femur were achondroplastic; segmented, partially resorped, and replaced with immature bony trabeculae containing degenerated chondrocytes. The skull was thin and partially replaced with connective tissue. Diffuse and severe fatty degeneration was observed in the hepatic stellate (Ito') cells. After 6 mo, surviving calves manifested unthrifty with short and irregular hindquarters (Case 2). The metaphyseal growth plates were poorly formed, irregular, partially disappeared centrally, and often sealed with thin bony trabeculae. The cartilage matrix was not homogeneous but was finely fibrous, and chondrocytes were flat and degenerated. The bone lesion was diagnosed as chondrodysplasia due to premature physeal closure. These calves had been administered excessive amounts of vitamins A, D3 and E, and blood chemistry of acute case showed hypervitaminosis A and E. Case I demonstrated acute disease, while Case 2 demonstrated chronic sequelae. Hypervitaminosis A was the suspected cause. PMID:12678294

  9. 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.

  10. 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.

  11. Genetics Home Reference: intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and ...

    MedlinePlus

    ... the most severe feature of IMAGe syndrome . The adrenal glands are a pair of small glands on top ... how these genetic changes underlie the bone abnormalities, adrenal gland underdevelopment, and other signs and symptoms of this ...

  12. 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. PMID:11624576

  13. 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. PMID:24406559

  14. 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…

  15. Chondrocytes-Specific Expression of Osteoprotegerin Modulates Osteoclast Formation in Metaphyseal Bone.

    PubMed

    Wang, Baoli; Jin, Hongting; Shu, Bing; Mira, Ranim R; Chen, Di

    2015-01-01

    Bone marrow stromal cells/osteoblasts were originally thought to be the major player in regulating osteoclast differentiation through expressing RANKL/OPG cytokines. Recent studies have established that chondrocytes also express RANKL/OPG and support osteoclast formation. Till now, the in vivo function of chondrocyte-produced OPG in osteoclast formation and postnatal bone growth has not been directly investigated. In this study, chondrocyte-specific Opg transgenic mice were generated by using type II collagen promoter. The Col2-Opg transgenic mice showed delayed formation of secondary ossification center and localized increase of bone mass in proximal metaphysis of tibiae. TRAP staining showed that osteoclast numbers were reduced in both secondary ossification center and proximal metaphysis. This finding was further confirmed by in vitro chondrocyte/spleen cell co-culture assay. In contrast, the mineral apposition rates were not changed in Col2-Opg transgenic mice. TUNEL staining revealed more apoptotic hypertrophic chondrocytes in the growth plate of Col2-Opg mice. Flow cytometry analysis showed fewer RANK-expressing cells in the marrow of Col2a1-Opg mice, suggesting the role of OPG in blocking the differentiation of early mesenchymal progenitors into RANK-expressing pre-osteoclasts. Our results demonstrated that OPG expression in chondrocyte increases bone mass in the proximal metaphysis of tibiae through negative regulation of osteoclast formation. PMID:26329493

  16. Chondrocytes-Specific Expression of Osteoprotegerin Modulates Osteoclast Formation in Metaphyseal Bone

    PubMed Central

    Wang, Baoli; Jin, Hongting; Shu, Bing; Mira, Ranim R.; Chen, Di

    2015-01-01

    Bone marrow stromal cells/osteoblasts were originally thought to be the major player in regulating osteoclast differentiation through expressing RANKL/OPG cytokines. Recent studies have established that chondrocytes also express RANKL/OPG and support osteoclast formation. Till now, the in vivo function of chondrocyte-produced OPG in osteoclast formation and postnatal bone growth has not been directly investigated. In this study, chondrocyte-specific Opg transgenic mice were generated by using type II collagen promoter. The Col2-Opg transgenic mice showed delayed formation of secondary ossification center and localized increase of bone mass in proximal metaphysis of tibiae. TRAP staining showed that osteoclast numbers were reduced in both secondary ossification center and proximal metaphysis. This finding was further confirmed by in vitro chondrocyte/spleen cell co-culture assay. In contrast, the mineral apposition rates were not changed in Col2-Opg transgenic mice. TUNEL staining revealed more apoptotic hypertrophic chondrocytes in the growth plate of Col2-Opg mice. Flow cytometry analysis showed fewer RANK-expressing cells in the marrow of Col2a1-Opg mice, suggesting the role of OPG in blocking the differentiation of early mesenchymal progenitors into RANK-expressing pre-osteoclasts. Our results demonstrated that OPG expression in chondrocyte increases bone mass in the proximal metaphysis of tibiae through negative regulation of osteoclast formation. PMID:26329493

  17. 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…

  18. World View, Metaphysics, and Epistemology. Scientific Literacy and Cultural Studies Project, Working Paper No. 106.

    ERIC Educational Resources Information Center

    Cobern, William W.

    It has been argued from world view theory that fundamental beliefs abut the world exert a powerful influence on how sense is made of events in the world. However, the nature of that influence has remained enigmatic. Hannah Arendt's distinction between thinking and comprehension, and knowing and apprehension provides a clarification. Thinking is…

  19. 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. PMID:22655336

  20. The Impact of Strontium Ranelate on Metaphyseal Bone Healing in Ovariectomized Rats.

    PubMed

    Komrakova, Marina; Weidemann, Anna; Dullin, Christian; Ebert, Joachim; Tezval, Mohammad; Stuermer, Klaus Michael; Sehmisch, Stephan

    2015-10-01

    The following questions were addressed: whether therapy with strontium ranelate (SR) should be continued or interrupted if the fractures occur during SR treatment and whether SR could be applied directly after fracture to improve bone healing. Sprague-Dawley rats (3 month old) were ovariectomized (Ovx, n = 48) or left intact (n = 12). After 8 weeks, a bilateral transverse osteotomy of the tibia metaphysis was created in all rats. Ovx rats were divided into four groups: Ovx; SR applied directly after Ovx until osteotomy (prophylaxis, SR pr, 8 weeks); SR applied after osteotomy (therapy, SR th, 5 weeks); SR applied during the whole experiment (pr + th, 13 weeks). SR dosage was 625 mg/kg body weight/day, administered in the feed. Five weeks later, tibiae were analyzed by biomechanical, histological, micro-CT, and gene expression analyses. The SR pr + th treatment increased total bone mineral density (BMD), bone volume fraction, cortical BMD and volume, callus area and density, serum alkaline phosphatase, tartrate-resistant acid phosphatase mRNA, accelerated osteotomy bridging, and callus formation at weeks 2 and 3 of healing and decreased the osteoprotegerin/receptor activator of nuclear factor kB ligand mRNA ratio. SR th enlarged callus area and improved callus formation during the 5th week of healing. SR pr improved cortical BMD preserving bone after SR discontinuation (5-week rest); the bone healing was not affected. SR content in the tibia metaphysis was the highest in SR pr + th group and was not different between SR pr and SR th. SR has a positive effect on osteoporotic bone healing in rat and SR treatment can be continued after the fracture occurs or applied directly after the fracture. PMID:26084691

  1. Nonossifying fibroma (metaphyseal fibrous defect) of the mandible in a 15-year-old boy.

    PubMed

    Mannan, Abul Ala; Singh, N Gopendro; Al-Waheeb, Salah; Taher, Taher N; Mohammed, Emad El Din El Din

    2015-06-01

    We describe a rare case of nonossifying fibroma of the mandible in a 15-year-old boy who presented with a left mandibular swelling. Conventional imaging showed an expansile radiolucent lesion involving the angle and the body of the left mandible. The lesion was curetted, and a miniplate was implanted at the excision site. Microscopic examination of the removed specimen revealed a cellular lesion characterized by a proliferation of uniform spindle-shaped cells in a vague but prominent storiform pattern, which represented the classic appearance of nonossifying fibroma. Three months later, radiography detected a fracture of the implantation plate. The area was re-explored with curettage of the soft tissue, which on microscopy demonstrated findings similar to the initial curettage findings. Follow-up radiology revealed satisfactory healing of the jaw, and no further recurrence was seen 2 years after the initial surgery. We present this case to highlight the importance of recognizing nonossifying fibroma in the mandible, which can be easily confused with more common mandibular lesions. PMID:26053991

  2. 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…

  3. Caveat Emptor: A De-Constructive Reading of the Stealth Metaphysics of Stephen R. Covey.

    ERIC Educational Resources Information Center

    English, Fenwick W.

    2002-01-01

    Discusses the works of popular business and self-help gurus, focusing on the book The Seven Habits of Highly Effective People. Argues that such works fail to meet minimal academic and research standards and questions their efficacy as instructional materials for educational-leadership training. (Contains 1 table and 54 references.) (WFA)

  4. Physical and mechanical characterization of a porous cement for metaphyseal bone repair

    PubMed Central

    Cimatti, Bruno; Engel, Edgard Eduard; Nogueira-Barbosa, Marcello Henrique; Frighetto, Paulo Donato; Volpon, José Batista

    2015-01-01

    OBJECTIVE: Macroporous cement with mechanical properties similar to cancellous bone may improve the treatment of large bone defects in relation to solid acrylic cement. The aim of this study was to compare physical and mechanical characteristics of a polymethyl methacrylate (PMMA) based porous cement with cancellous bone. METHODS: Compressive strength and pore size, interconnectivity, and distribution of cylindrical porous PMMA cement samples containing 10% (G1), 20% (G2) or 30% (G3) effervescent components were analyzed. Results were compared to bovine cancellous bone (G4) and solid PMMA (G5) samples. RESULTS: Scanning electron microscopy (SEM) of all experimental samples (G1 - G3) revealed a random distribution and a wide size variation of pores ranging from 50 µm to 3 mm. Micro-CT showed that G2 have high porosity and lower interconnectivity of pores. No significant differences in yield strength and Young's modulus were observed among G1, G2 and G3. G4 samples were slightly stronger and less elastic than the other groups. Solid PMMA is extremely strong and inelastic. CONCLUSIONS: PMMA based porous cement met the expected characteristics. High porosity with large and interconnected pores may allow for bone ingrowth. Strength and elasticity similar to cancellous bone may enhance mechanical stimuli to bone remodeling. Observational Descriptive Study. PMID:26327801

  5. 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

  6. 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…

  7. 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.

  8. 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…

  9. "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"…

  10. 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.

  11. 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

  12. Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients.

    PubMed

    Mäkitie, O

    1992-09-01

    Cartilage-hair hypoplasia (CHH) is an autosomal recessive form of metaphyseal chondrodysplasia characterised by short limbed short stature, hypoplastic hair growth, and impaired cell mediated immunity and erythrocyte production. The syndrome is exceptionally prevalent among the Finns and among the Old Order Amish in the United States; sporadic cases have been reported from other countries. An epidemiological and genetic study of CHH in Finland showed 107 patients, 46 males and 61 females, in 85 families. Eighteen of them had died, seven before the age of 1 year. The living patients ranged in age from 1 to 51 years, median 21 years. The incidence was estimated to be 1:23,000 live births. Consanguinity was found in two families and interfamilial relationships in 20 families. Geographical distribution of the birth places of the patients and their great grandparents showed accumulation in a small area in western Finland and regional clusters were seen in other parts of the country as well. The result of the segregation analysis was in accordance with recessive inheritance with reduced penetrance. PMID:1404295

  13. 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

  14. Technique of Open Reduction and Internal Fixation of Comminuted Proximal Humerus Fractures With Allograft Femoral Head Metaphyseal Reconstruction.

    PubMed

    Parada, Stephen A; Makani, Amun; Stadecker, Monica J; Warner, Jon J P

    2015-10-01

    Proximal humerus fractures are common injuries that can require operative treatment. Different operative techniques are available, but the hallmark of fixation for 3- and 4-part fractures is a locking-plate-and-screw construct. Despite advances in this technology, obtaining anatomical reduction and fracture union can be difficult, and complications (eg, need for revision) are not uncommon. These issues can be addressed by augmenting the fixation with an endosteally placed fibular allograft. Although biomechanical and clinical results have been good, the technique can lead to difficulties in future revision to arthroplasty, a common consequence of failed open reduction and internal fixation. The technique described, an alternative to placing a long endosteal bone graft, uses a trapezoidal, individually sized pedestal of allograft femoral head to facilitate the reduction and healing of the humeral head and tuberosity fragments in a displaced 3- or 4-part fracture of the proximal humerus. It can be easily incorporated with any plate-and-screw construct and does not necessitate placing more than 1 cm of bone into the humeral intramedullary canal, limiting the negative effects on any future revision to arthroplasty. PMID:26447409

  15. 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. PMID:12578252

  16. Hydroxyapatite-coated stems with metaphyseal and diaphyseal press-fit. Eleven-year follow-up results.

    PubMed

    Hernández Cortés, P; Nájera Sagastume, O O; Mesa Ramos, F; Pajares López, M; Hernández Hernández, M A

    2002-02-01

    We report the 11-year follow-up results of 52 unilateral primary hip arthroplasties performed with hydroxyapatite-coated stems. The femoral prosthesis used was a collarless titanium alloy implant, with proximal circumferential hydroxyapatite coating and increased distal thickness to fit the proximal diaphyseal region of the femur. Clinical evaluation was performed using the Merle d'Aubigné Hip Score. Anteroposterior and lateral radiographs were obtained and compared with previous postoperative films. Radiographic evaluation was carried out following Engh's criteria for uncemented implant fixation and using Livermore's method for measurement of polyethylene wear. At the end of the follow-up period, excellent and good clinical results were recorded in 40 arthroplasties (77%). The incidence of thigh pain at one year was 32.7%, but it decreased to 4.2% after the first post-operative year. The 11-year survival rate was 92.3%. Seven arthroplasties were revised because of aseptic loosening of the cup in one case, aseptic loosening of the stem, in one case, septic loosening of the stem in one case, periprosthetic fracture in two cases and polyethylene wear in three cases. Forty-two (87.5%) of the nonrevised stems met the criteria for radiographic osseointegration. Cortical hypertrophy was observed around the mid-part and tip of the stem in 22 patients of the series. This sign tends to be related to thigh pain (p < 0.1). Calcar osteolysis was present in 8 cases. There was only one case of distal femoral osteolysis. We found a strong and significant relationship between long-term wear rates and the occurrence of osteolysis (p < 0.001). We concluded that thigh pain is in relation to the distal diameter of the stems and significantly decreases after the first postoperative year. There was a low incidence of osteolysis in our series in comparison with other series of noncemented implants with 32-mm femoral heads and with similar follow-up. PMID:11915455

  17. 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. PMID:21884095

  18. 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…

  19. 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…

  20. A Case Study of the Effect of Metaphysical Commitments on the Learning of a Complex Scientific Theory.

    ERIC Educational Resources Information Center

    Hewson, Peter W.

    A model of conceptual change, adapted from Posner, is presented. It includes both the replacement of an existing concept (conceptual exchange), and the incorporation of a new concept (conceptual capture). Conceptual exchange occurs only when an existing concept is dissatisfying and a new concept is intelligible, initially plausible, and fruitful.…

  1. 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…

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

    PubMed

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

    2001-01-01

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

  3. 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. PMID:22536625

  4. Flexible intramedullary nailing had better outcomes than kirschner wire fixation in children with distal humeral metaphyseal-diaphyseal junction fracture: a retrospective observational analysis

    PubMed Central

    Ge, Yi-Hua; Wang, Zhi-Gang; Cai, Hai-Qing; Yang, Jie; Xu, Yun-Lan; Li, Yu-Chan

    2014-01-01

    The effectiveness evaluation of flexible intramedullary nailing (FIN) and kirschner wire fixation (K-wire) used for MDJ fractures fixation have been described in multiple reports. But there have been few reports about comparison between FIN and K-wire in children with distal humeral MDJ fracture. In our retrospective study, Nineteen children received K-wire and twenty children received FIN, during the follow-up, six children in the K-wire group and one children in the FIN group was found to have postoperative cubitus varus; fixation method was an independent risk factor for postoperative cubitus varus (P = 0.001), fixation methods contributed significantly to operation time (t = 6.519, P < 0.001), surgical blood loss (t = 5.349, P < 0.001) and postoperative fracture healing time (t = 4.940, P < 0.001). We can conclude that FIN was related with lower incidence of postoperative cubitus varus, shorter operation time, less surgical blood loss and shorter fracture healing time compared to K-wire in children with MDJ fractures of the distal humerus. PMID:25419399

  5. 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. PMID:26011431

  6. Congenital cataract

    MedlinePlus

    ... of the following birth defects: Chondrodysplasia syndrome Congenital rubella Conradi-Hünermann syndrome Down syndrome (trisomy 21) Ectodermal ... Images Eye Cataract - close-up of the eye Rubella syndrome Cataract References Dahan E. Pediatric cataract surgery. ...

  7. Genetics Home Reference: Schwartz-Jampel syndrome

    MedlinePlus

    ... eyelids (blepharospasm). Chondrodysplasia affects the development of the skeleton, particularly the long bones in the arms and ... flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted ...

  8. 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. PMID:26277890

  9. [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. PMID:547754

  10. 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...

  11. The Stenopsyche simplex Species Group from China with descriptions of three new species (Trichoptera: Stenopsychidae).

    PubMed

    Xu, Ji-Hua; Wang, Bei-Xin; Sun, Chang-Hai

    2014-01-01

    The Chinese Stenopsyche simplex Group is revised for the first time since Weaver's (1987) revision. The group includes 14 described species and 3 new species. Two diagnostic subgroups were recognized by Schmid (1959). The first subgroup of Chinese species includes S. anaximander Malicky 2011, S. brevata Tian & Zheng 1989, S. chinensis Hwang 1957, S. dentata Navás 1930, S. splendida Martynov 1935, S. dubia Schmid 1965, S. rotundata Schmid 1965, S. simplex Schmid 1959, and S. tienmushanensis Hwang 1957; of these, S. dentata is assigned to this first subgroup for the first time. The second diagnostic subgroup includes S. denticulata Ulmer 1926, S. longispina Ulmer 1926, S. stoetzneri Döhler 1929, S. uniformis Schmid 1965 and S. formosana Kobayashi, 1987. The species newly described here include Stenopsyche ningshanensis sp. nov., from Shaan-xi Province, belonging to the first subgroup, and Stenopsyche acanthoclada sp. nov. and Stenopsyche jinxiuensis sp. nov., both from Guang-xi Province and belonging to the second subgroup. Distribution maps of the two diagnostic subgroups of Chinese species and illustrations of male genitalia of the three new species are provided along with collection data for additional specimens for the previously described species. PMID:24872179

  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. 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…

  14. 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…

  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. 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…

  17. 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.

  18. 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

  19. Plastic anisotropy and dislocation trajectory in BCC metals.

    PubMed

    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

  20. Crystal plasticity investigation of the microstructural factors influencing dislocation channeling in a model irradiated bcc material

    DOE PAGESBeta

    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

  1. Ellis van Creveld syndome.

    PubMed

    Ghanekar, Jaishree; Sangrampurkar, Sujata; Hulinaykar, Raman; Ahmer, Tariq

    2009-07-01

    Ellis-van Creveld syndrome (EVC) or chondroectodermal dysplasia is a rare autosomal recessive disorder. It is a tetrad of chondrodysplasia, ectodermal dysplasia, polydactyly, and congenital heart disease. In several case reports, dysplasia involving other organs has also been identified. The exact prevalence is unknown, but the syndrome seems more common among the Amish community. Many Indian cases have also been reported. This report describes a classical case of EVC syndrome in a 22 year old woman of Indian origin born of a consanginous marriage. The patient had chondrodysplasia of tubular bones resulting in disproportionate dwarfism, postaxial polydactyly, severely dystrophic nails, partially absent teeth, pectus excavatum with narrow chest, knock knees and AV canal defect. PMID:20329417

  2. [Antenatal diagnosis of achondrogenesis. Two successive cases in the same family].

    PubMed

    Boudier, E; Zurlinden, B; Cour, A; Rognon, M; Devalland-Monnin, C; Nirhy-Lanto, A; el Khadissi, H

    1991-01-01

    Achondrogenesis is a rare case of fetal skeletal dysplasia. Achondrogenesis in lethal. That is a autosomal recessive fetal skeletal dysplasia. There is a very important dwarfism with extreme micromely, macrocephalia and brevity of chest. The authors enumerate the echographics, radiologics and histologics symptoms of this chondro-dysplasia. The authors comment rapidly the others diagnosis of lethal fetal skeletal dysplasia. Genetic consul is a necessity. PMID:1955657

  3. [Achondrogenesis. Ultrasonic diagnosis and clinical and anatomopathologic comparison].

    PubMed

    Mandjee, D; Clément, F; Belin, M; Harter, S; Clamaran, E

    1991-05-01

    The authors report two cases of achondrogenesis, the first of which was diagnosed in utero. Ultrasonographic abnormalities suggested the diagnosis, which was confirmed radiographically. The diagnosis of achondrogenesis in utero made it possible to avoid a Cesarian. It is always difficult to extract the malformed fetus. The histopathology findings make it possible to codify this rare type of congenital and lethal chondrodysplasia. Achondrogenesis is probably inherited in a recessive and autosomic fashion. PMID:1871502

  4. Neonatal lupus erythematosus associated with unilateral pectoralis major atrophy.

    PubMed

    Mondal, Rakesh; Nandi, Madhumita; Sarkar, Sumantra; Mukherjee, Krishnendu

    2011-11-01

    Neonatal lupus erythematosus (NLE), in most cases, presents with cardiac and dermatological manifestation due to transferred IgG auto antibodies (anti Ro/SSA and anti La/SSB) from the mother. Some unusual associations with myelopathy, vasculopathy, transient myasthenia gravis, congenital nephrotic syndrome, chondrodysplasia punctata etc. are also reported. Here, the authors present a case of NLE with isolated left sided pectoralis major muscle atrophy, which has not been reported earlier. PMID:21553209

  5. [Osteochondrodysplasia determined genetically by a collagen type II gene mutation].

    PubMed

    Czarny-Ratajczak, M; Rogala, P; Wolnik-Brzozowska, D; Latos-Bieleńska, A

    2001-01-01

    Chondrodysplasias are a heterogenous group of skeletal dysplasias, affecting the growing cartilage. The main part of chondrodysplasias is caused by mutations in various types of collagen genes. The current classification within this group of disorder relies on clinical, histological and radiographic features. Type II collagenopathies comprise part of chondrodysplasias, consisting of hereditary disorders caused by defects in the type II collagen. Collagen type II is coded by a large gene--COL2A1. The chromosomal location for the human COL2A1 gene is 12q13.11-q13.12. Defects in collagen type II are caused by point mutations in the COL2A1 gene. Type II collagenopathies form a wide spectrum of clinical severity ranging from lethal achondrogenesis type II, hypochondrogenesis, through severe forms like spondyloepiphyseal dysplasia congenita, spondyloepimetaphyseal dysplasia congenita, Marshall syndrome, to the mild forms--Stickler syndrome and early osteoarthritis. The pathological changes in the patients are observed in the growth plate, nucleus pulposus and vitreous body, where the abnormal collagen type II is distributed. This article presents the genetic background of collagenopathies type II and the results of current molecular studies of the patients. Both the molecular and the clinical studies may promise a better understanding of the relationship between the genotype and the phenotype. We present the patients, who were diagnosed at the Department of Medical Genetics and in the Orthopaedic Department in Poznań. PMID:11481990

  6. What to say to a skeptical metaphysician: a defense manual for cognitive and behavioral scientists.

    PubMed

    Ross, Don; Spurrett, David

    2004-10-01

    A wave of recent work in metaphysics seeks to undermine the anti-reductionist, functionalist consensus of the past few decades in cognitive science and philosophy of mind. That consensus apparently legitimated a focus on what systems do, without necessarily and always requiring attention to the details of how systems are constituted. The new metaphysical challenge contends that many states and processes referred to by functionalist cognitive scientists are epiphenomenal. It further contends that the problem lies in functionalism itself, and that, to save the causal significance of mind, it is necessary to re-embrace reductionism. We argue that the prescribed return to reductionism would be disastrous for the cognitive and behavioral sciences, requiring the dismantling of most existing achievements and placing intolerable restrictions on further work. However, this argument fails to answer the metaphysical challenge on its own terms. We meet that challenge by going on to argue that the new metaphysical skepticism about functionalist cognitive science depends on reifying two distinct notions of causality (one primarily scientific, the other metaphysical), then equivocating between them. When the different notions of causality are properly distinguished, it is clear that functionalism is in no serious philosophical trouble, and that we need not choose between reducing minds or finding them causally impotent. The metaphysical challenge to functionalism relies, in particular, on a naïve and inaccurate conception of the practice of physics, and the relationship between physics and metaphysics. PMID:15895615

  7. Lessons from the Tao for birthing practice.

    PubMed

    Overman, B

    1994-06-01

    The metaphysics of the Tao Te Ching, as the basic structure of the universe, is used to examine birthing as creation. Lessons from the Tao regarding cultivating naturalness are drawn upon to provide suggestions for women in preparation for birthing, as well as for the nurses and midwives who attend them. Compatibility of this metaphysical view of birthing with Rogers's and Newman's nursing theories is identified, and the importance of honoring the metaphysical and spiritual aspects of birthing in nursing practice is stressed. PMID:8195571

  8. Nosology, ontology and promiscuous realism.

    PubMed

    Binney, Nicholas

    2015-06-01

    Medics may consider worrying about their metaphysics and ontology to be a waste of time. I will argue here that this is not the case. Promiscuous realism is a metaphysical position which holds that multiple, equally valid, classification schemes should be applied to objects (such as patients) to capture different aspects of their complex and heterogeneous nature. As medics at the bedside may need to capture different aspects of their patients' problems, they may need to use multiple classification schemes (multiple nosologies), and thus consider adopting a different metaphysics to the one commonly in use. PMID:25389077

  9. The (even) bolder model. The clinical psychologist as metaphysician-scientist-practitioner.

    PubMed

    O'Donohue, W

    1989-12-01

    Is the clinical psychologist best characterized as a scientist-practitioner? Or does the practice of science and psychotherapy involve metaphysics to such an extent that the clinical psychologist ought to be considered a metaphysician-scientist-practitioner? To answer these questions, the roles, if any, of metaphysics in science and psychotherapy are examined. This article investigates this question by examining the views of the logical positivists, Karl Popper and Imre Lakatos, and concludes that the practice of science and psychotherapy involves metaphysics in (a) problem choice, (b) research and therapy design, (c) observation statements, (d) resolving the Duhemian problem, and (e) modifying hypotheses to encompass anomalous results. PMID:2604282

  10. A DATABASE FOR TRACKING TOXICOGENOMIC SAMPLES AND PROCEDURES WITH GENOMIC, PROTEOMIC AND METABONOMIC COMPONENTS

    EPA Science Inventory

    A Database for Tracking Toxicogenomic Samples and Procedures with Genomic, Proteomic and Metabonomic Components
    Wenjun Bao1, Jennifer Fostel2, Michael D. Waters2, B. Alex Merrick2, Drew Ekman3, Mitchell Kostich4, Judith Schmid1, David Dix1
    Office of Research and Developmen...