Science.gov

Sample records for schmid metaphyseal chondrodysplasia

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

    PubMed Central

    Khorasani, Efat; Vakili, Rahim

    2016-01-01

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

  2. Metaphyseal chondrodysplasia with ectodermal dysplasia

    SciTech Connect

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

    1981-11-01

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

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

    PubMed

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

    1987-01-01

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

  5. Retinitis pigmentosa, metaphyseal chondrodysplasia, and brachydactyly: an affected brother and sister.

    PubMed Central

    Phillips, C I; Wynne-Davies, R; Stokoe, N L; Newton, M

    1981-01-01

    A brother and sister, children of normal parents are described. They had retinitis pigmentosa, causing near-blindness as a result of very narrow fields of vision, associated with metaphyseal chondrodysplasia and marked shortening of the metacarpals and terminal phalanges. Autosomal recessive inheritance is suggested with a common biochemical cause for all these defects. This apparently new association of retinitis pigmentosa with a systemic bone dysplasia emphasises that this not uncommon clinical diagnosis has a variety of different possible causes. Images PMID:7252997

  6. Mutations within the gene encoding the alpha1(X) chain of type X collagen (COL10A1) occur in individuals with metaphyseal chondrodysplasia

    SciTech Connect

    Wallis, G.A.; Rash, B.; Grant, M.E.

    1994-09-01

    Type X collagen is specifically and transiently synthesized by hypertrophic chondrocytes at sites of endochondral ossification. The pattern of expression of type X collagen suggests that mutations within the encoding gene (COL10A1) may cause heritable forms of chondrodysplasia. We have previously identified two point mutations within the COL10A1 gene that would lead to amino acid substitutions within the carboxyl-terminal domain of the alpha1(X) chain in two unrelated individuals with metaphyseal condrodysplasia type Schmid (MCDS). We have now used PCR followed by SSCP to analyze the coding and promoter regions of the COL10A1 gene as well as the intron/extron boundaries in six further individuals with MCDS and in eleven individuals with related forms of chondrodysplasia. Using this approach, we identified mono- and dinucleotide deletions in four individuals with MCDS in the region of the gene encoding the carboxyl-terminal domain. In these instances, the deletions led to an alteration in reading frame and premature stop codons that would alter either chain recognition or assembly of the type X collagen molecule. In two individuals with MCDS we did not detect mutations within the COL10A1 gene despite extensive analysis of the coding regions. We also did not detect mutations within COL10A1 in two individuals with MCD type Jansen, one individual with MCD plus melabsorption and neutropenia, three individuals with spondylometaphyseal chondrodysplasia (SMD) type Kozlowski and five individuals with the unclassifiable forms of MCD and SMD.

  7. 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

  8. 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

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

    PubMed

    Ogata, Naoshi

    2010-10-01

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

  10. 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 ...

  11. 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 ...

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

    PubMed

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

    1984-02-01

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

  13. 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

  14. 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.

  15. 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

  16. Metaphysics in Education after Hutchins and Dewey.

    ERIC Educational Resources Information Center

    Arcilla, Rene Vincente

    1991-01-01

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

  17. 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.

  18. A Case of Rhizomelic Chondrodysplasia Punctata in Newborn

    PubMed Central

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

    2014-01-01

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

  19. 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,…

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

    DOE PAGESBeta

    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.

  1. 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.

  2. 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

  3. 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.

  4. 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

  5. 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

  6. Metaphyseal osteopathy in a British Shorthair cat.

    PubMed

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

    2015-04-01

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

  7. Metaphysical Beliefs as Predictors of Death Anxiety.

    ERIC Educational Resources Information Center

    Naidu, R. K.; Sinha, Ambalika

    1992-01-01

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

  8. A fatal case of pure metaphyseal chondroblastoma.

    PubMed

    Binesh, Fariba; Moghadam, Reza Nafisi; Abrisham, Jalil

    2013-08-23

    The chondroblastoma (CB) is a rare cartilaginous tumour; it represents less than 1% of all bone tumours. It is mostly localised at the level of the epiphysis of long bones. We report a fatal case of pure metaphyseal CB of the tibia in a 9-year-old boy whose pulmonary metastases developed soon after operative therapy of the primary tumour.

  9. 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…

  10. A fatal case of pure metaphyseal chondroblastoma.

    PubMed

    Binesh, Fariba; Moghadam, Reza Nafisi; Abrisham, Jalil

    2013-01-01

    The chondroblastoma (CB) is a rare cartilaginous tumour; it represents less than 1% of all bone tumours. It is mostly localised at the level of the epiphysis of long bones. We report a fatal case of pure metaphyseal CB of the tibia in a 9-year-old boy whose pulmonary metastases developed soon after operative therapy of the primary tumour. PMID:23975916

  11. 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…

  12. 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

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

    PubMed

    Mildenberger, Florian

    2008-01-01

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

  14. Metaphysics and the vision of health.

    PubMed

    Epperly, B G

    1988-09-01

    Whitehead's philosophy of organism provides the most comprehensive and adequate basis for the transformation of contemporary health care. In contrast to the reductionist and fragmentary medical models supported by Cartesian dualism, materialism, and idealism, Whitehead's metaphysics serves as the foundation for a holistic health care system, inclusive of the dimensions of spirituality, emotions, physical existence, and environment as they relate to health and illness. Whitehead's understanding of the relationship of mind and body and the role of the divine in the creative process encourages the inclusion of pastoral care, imaging, and meditation in responding to illness.

  15. 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…

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

    PubMed Central

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

    1998-01-01

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

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

    PubMed Central

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

    2014-01-01

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

  19. 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.

  20. Audism: exploring the metaphysics of oppression.

    PubMed

    Bauman, H-Dirksen L

    2004-01-01

    This article traces the development of the concept of "audism" from its inception in the mid-1970s by exploring three distinct dimensions of oppression: individual, institutional, and metaphysical. Although the first two aspects of audism have been identified, there is a deeply rooted belief system regarding language and human identity that is yet to be explored within the context of audism. This article attempts to expose how our particular historical and philosophical constructions of language and being have created what French philosopher Jacques Derrida calls phonocentrism. Although Derrida does not discuss audism, his deconstruction of the Western notion of language provides a lens through which we can better see the orientation that has provided fertile ground out of which individual and institutional audism has flourished. PMID:15304445

  1. [The metaphysical dimension of animal ethics].

    PubMed

    Walz, Norbert

    2008-01-01

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

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

    PubMed Central

    Holzenthal, Ralph W.; Blahnik, Roger J.

    2010-01-01

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

  3. 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

  4. Canine Chondrodysplasia Caused by a Truncating Mutation in Collagen-Binding Integrin Alpha Subunit 10

    PubMed Central

    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

  5. 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

  6. 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.

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

    PubMed

    Lemeire, Olivier

    2016-10-01

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

  8. 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.

  9. 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

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

    PubMed Central

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

    2009-01-01

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

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

    PubMed

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

    2009-08-21

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

  12. 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…

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

    ERIC Educational Resources Information Center

    Taylor, John L.

    2003-01-01

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

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

    ERIC Educational Resources Information Center

    Allan, George

    2012-01-01

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

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

    PubMed

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

    2016-01-01

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

  16. 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.

  17. 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

  18. 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.

  19. 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

  20. 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

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

    PubMed

    Sansone, Randy A; Sansone, Lori A

    2009-12-01

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

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

    PubMed

    Bishop, Jeffrey P

    2009-08-01

    This essay places Foucault's work into a philosophical context, recognizing that Foucault is difficult to place and demonstrates that Foucault remains in the Kantian tradition of philosophy, even if he sits at the margins of that tradition. For Kant, the forms of intuition-space and time-are the a priori conditions of the possibility of human experience and knowledge. For Foucault, the a priori conditions are political space and historical time. Foucault sees political space as central to understanding both the subject and objects of medicine, psychiatry, and the social sciences. Through this analysis one can see that medicine's metaphysics is a metaphysics of efficient causation, where medicine's objects are subjected to mechanisms of efficient control. PMID:19546145

  3. 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.

  4. 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

  5. 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

  6. 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

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

    PubMed

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

    2015-01-01

    X-linked recessive type chondrodysplasia punctata (CDPX1) is a congenital disorder of cartilage and bone development with typical findings of stippled epyphises, nasomaxillary hypoplasia and short distal phalanges in a male patient. Disease is caused due to the loss of arylsulfatase E activity and only 55 patients with genetically confirmed disease have been reported so far. In 60-75 % of all patients the mutation in ARSE gene is detected by sequence analysis and in further 25 % of patients Xp deletions or rearrangements are causative and may be identified by classical chromosome studies. We report on a male patient refered to clinical geneticist for congenital hearing loss and mild dysplastic signs, both phenotypic features being relatively unspecific and non suggestive of CDPX1 in first instance. Array comparative genomic hybridisation showed approximatelly 3 kb big deletion, spaning intron and exon 7 of arylsulfatase E gene located in Xp22.33. This explained the cause of hearing loss, being present in 26-89 % od CDPX1 patients, as well as additional non prominent skeletal characteristics described by geneticist in our patient - mild midface hypoplasia and mild brachytelephalangy. Reported case introduces different presenting clinical phenotype for CDPX1, emphasizing different expressivity in this disorder. PMID:26526591

  8. 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.

  9. Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe.

    PubMed

    Graul-Neumann, Luitgard M; Deichsel, Alexandra; Wille, Ulrike; Kakar, Naseebullah; Koll, Randi; Bassir, Christian; Ahmad, Jamil; Cormier-Daire, Valerie; Mundlos, Stefan; Kubisch, Christian; Borck, Guntram; Klopocki, Eva; Mueller, Thomas D; Doelken, Sandra C; Seemann, Petra

    2014-06-01

    Acromesomelic chondrodysplasias (ACDs) are characterized by disproportionate shortening of the appendicular skeleton, predominantly affecting the middle (forearms and forelegs) and distal segments (hands and feet). Here, we present two consanguineous families with missense (c.157T>C, p.(C53R)) or nonsense (c.657G>A, p.(W219*)) mutations in BMPR1B. Homozygous affected individuals show clinical and radiographic findings consistent with ACD-type Grebe. Functional analysis of the missense mutation C53R revealed that the mutated receptor was partially located at the cell membrane. In contrast to the wild-type receptor, C53R mutation hindered the activation of the receptor by its ligand GDF5, as shown by reporter gene assay. Further, overexpression of the C53R mutation in an in vitro chondrogenesis assay showed no effect on cell differentiation, indicating a loss of function. The nonsense mutation (c.657G>A, p.(W219*)) introduces a premature stop codon, which is predicted to be subject to nonsense-mediated mRNA decay, causing reduced protein translation of the mutant allele. A loss-of-function effect of both mutations causing recessive ACD-type Grebe is further supported by the mild brachydactyly or even non-penetrance of these mutations observed in the heterozygous parents. In contrast, dominant-negative BMPR1B mutations described previously are associated with autosomal-dominant brachydactyly-type A2. PMID:24129431

  10. 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.

  11. 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

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

    PubMed

    Bishop, Jeffrey P

    2008-03-01

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

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

    PubMed Central

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

    2014-01-01

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

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

    SciTech Connect

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

    1992-10-01

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

  15. 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.

  16. 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.

  17. 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

  18. 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

  19. 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.

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

    PubMed

    Eberl, Jason T; Ballard, Rebecca A

    2009-10-01

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

  1. 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

  2. On Some Troubles with the Metaphysics of Fermionic Compositions

    NASA Astrophysics Data System (ADS)

    Bigaj, Tomasz

    2016-09-01

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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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.

  11. 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.

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

    PubMed

    Soffer-Dudek, Nir

    2015-10-01

    Bion guides us to eschew memory, desire, and understanding in order to become one with O-the ultimate reality of the analytic moment. However, his directions are valid only to the extent that such a meta-reality actually exists. Otherwise there is nothing to unite with and no reason to shun memory or desire. The present work inquires whether we may provide Bion's technique with a less speculative philosophy, specifically Dewey's pragmatist theory of aesthetics. It begins with reviewing the similarities between the two writers' methods, highlighting their shared emphasis on openness to the unknown. Yet listening to their intonations reveals that they actually convey opposite ideas as to what this "unknown" may be. Whereas Dewey sanguinely portrays the possibilities of the "yet-unknown," Bion emphasizes the dread of our inescapable encounter with the unknowable. This dread is embodied in his concept of O. Thus, rather than being merely a metaphysical speculation, O communicates Bion's conviction that fear forms the core of our existence. Banishing O from the counseling room may indeed aid his method in becoming accessible to a wider audience; at the same time, however, doing so might also deprive it of the very context that gives it meaning. PMID:26487111

  13. 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.

  14. 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

  15. 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

  16. Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia.

    PubMed Central

    Ikegawa, S; Nishimura, G; Nagai, T; Hasegawa, T; Ohashi, H; Nakamura, Y

    1998-01-01

    Spondylometaphyseal dysplasia (SMD) comprises a heterogeneous group of heritable skeletal dysplasias characterized by modifications of the vertebral bodies of the spine and metaphyses of the tubular bones. The genetic etiology of SMD is currently unknown; however, the type X collagen gene (COL10A1) is considered an excellent candidate, for two reasons: first, Schmid metaphyseal chondrodysplasia, a condition known to result from COL10A1 mutations, shows a significant phenotypic overlap with SMD; and, second, transgenic mice carrying deletions in type X collagen show SMD phenotypes. Hence, we examined the entire coding region of COL10A1 by direct sequencing of DNA from five unrelated patients with SMD and found a heterozygous missense mutation (Gly595Glu) cosegregating with the disease phenotype in one SMD family. This initial documented identification of a mutation in SMD expands our knowledge concerning the range of the pathological phenotypes that can be produced by aberrations of type X collagen (type X collagenopathy). PMID:9837818

  17. 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

  18. 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

  19. Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata.

    PubMed

    Brites, Pedro; Motley, Alison M; Gressens, Pierre; Mooyer, Petra A W; Ploegaert, Ingrid; Everts, Vincent; Evrard, Philippe; Carmeliet, Peter; Dewerchin, Mieke; Schoonjans, Luc; Duran, Marinus; Waterham, Hans R; Wanders, Ronald J A; Baes, Myriam

    2003-09-15

    Rhizomelic chondrodysplasia punctata is a human autosomal recessive disorder characterized by skeletal, eye and brain abnormalities. The disorder is caused by mutations in the PEX7 gene, which encodes the receptor for a class of peroxisomal matrix enzymes. We describe the generation and characterization of a Pex7 mouse knockout (Pex7(-/-)). Pex7(-/-) mice are born severely hypotonic and have a growth impairment. Mortality in Pex7(-/-) mice is highest in the perinatal period although some Pex7(-/-) mice survived beyond 18 months. Biochemically Pex7(-/-) mice display the abnormalities related to a Pex7 deficiency, i.e. a severe depletion of plasmalogens, impaired alpha-oxidation of phytanic acid and impaired beta-oxidation of very-long-chain fatty acids. In the intermediate zone of the developing cerebral cortex Pex7(-/-) mice have an increase in neuronal density. In vivo neuronal birthdating revealed that Pex7(-/-) mice have a delay in neuronal migration. Analysis of bone ossification in newborn Pex7(-/-) mice revealed a defect in ossification of distal bone elements of the limbs as well as parts of the skull and vertebrae. These findings demonstrate that Pex7 knockout mice provide an important model to study the role of peroxisomal functioning in the pathogenesis of the human disorder.

  20. 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

  1. 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

  2. Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia.

    PubMed

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

    2002-05-01

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

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

    PubMed

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

    2016-06-01

    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

  4. 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

  5. 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

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

    PubMed

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

    2015-10-15

    Import of peroxisomal matrix proteins, crucial for peroxisome biogenesis, is mediated by the cytosolic receptors PEX5 and PEX7 that recognize proteins carrying peroxisomal targeting signals 1 or 2 (PTS1 or PTS2), respectively. Mutations in PEX5 or 12 other PEX genes cause peroxisome biogenesis disorders, collectively named the Zellweger spectrum disorders (ZSDs), whereas mutations in PEX7 cause rhizomelic chondrodysplasia punctata type 1 (RCDP1). Three additional RCDP types, RCDP2-3-4, are caused, respectively, by mutations in GNPAT, AGPS and FAR1, encoding enzymes involved in plasmalogen biosynthesis. Here we report a fifth type of RCDP (RCDP5) caused by a novel mutation in PEX5. In four patients with RCDP from two independent families, we identified a homozygous frame shift mutation c.722dupA (p.Val242Glyfs(∗)33) in PEX5 (GenBank: NM_001131023.1). PEX5 encodes two isoforms, PEX5L and PEX5S, and we show that the c.722dupA mutation, located in the PEX5L-specific exon 9, results in loss of PEX5L only. Both PEX5 isoforms recognize PTS1-tagged proteins, but PEX5L is also a co-receptor for PTS2-tagged proteins. Previous patients with PEX5 mutations had ZSD, mainly due to deficient import of PTS1-tagged proteins. Similarly to mutations in PEX7, loss of PEX5L results in deficient import of PTS2-tagged proteins only, thus causing RCDP instead of ZSD. We demonstrate that PEX5L expression restores the import of PTS2-tagged proteins in patient fibroblasts. Due to the biochemical overlap between RCDP1 and RCDP5, sequencing of PEX7 and exon 9 in PEX5 should be performed in patients with a selective defect in the import of PTS2-tagged proteins. PMID:26220973

  7. 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

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

    ERIC Educational Resources Information Center

    Torubarova, Tatyana V.

    2016-01-01

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

  9. 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.

  10. Mutational analysis of the biglycan gene excludes it as a candidate for x-linked dominant chondrodysplasia punctata, dyskeratosis congenita, and incontinentia pigmenti

    SciTech Connect

    Das, S.; Metzenberg, A.; Gitschier, J. ); Pai, G.S. )

    1994-05-01

    Biglycan is a small proteoglycan expressed mainly in cells of connective tissue, including chondrocytes, ostocytes, epithelial cells, and endothelial cells. The biglycan cDNA is 1,685 bp long. The biglycan gene was amplified in six segments by using nested PCR. Primers were synthesized to amplify exons 2-8 of the biglycan gene. Exon 1 was not amplified, as it consists entirely of 5[prime] untranslated sequence. Each exon was separately amplified, except for exons 5-7, which, because of their small size, were amplified in two segments and were subjected to SSCP analysis. Results indicate the presence of two different haplotypes for exon 2 and three different haplotypes for exon 4. Further SSCP analysis of control samples from nine females and one male confirmed that the exon 2 and exon 4 haplotypes consist of polymorphisms, rather than of mutations that specifically affect this patient population. Our results support recently described work that proposes that the biglycan gene may not be involved in X-linked dominant chondrodysplasia punctata. The absence of mutations in the biglycan gene in X-linked dominant chondrodysplasia punctata, dyskeratosis congenita, and incontinentia pigmenti suggest it is highly unlikely that mutations in this gene are responsible for any of these disorders.

  11. 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

  12. 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

  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.

  14. 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

  15. 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

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

    PubMed

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

    2016-09-01

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

  17. 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.

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

    PubMed

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

    2014-06-01

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

  19. 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

  20. 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

  1. 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

  2. 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

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

    PubMed Central

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

    1993-01-01

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

  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. Lower Trabecular Volumetric BMD at Metaphyseal Regions of Weight-Bearing Bones is Associated With Prior Fracture in Young Girls

    PubMed Central

    Farr, Joshua N; Tomás, Rita; Chen, Zhao; Lisse, Jeffrey R; Lohman, Timothy G; Going, Scott B

    2011-01-01

    Understanding the etiology of skeletal fragility during growth is critical for the development of treatments and prevention strategies aimed at reducing the burden of childhood fractures. Thus we evaluated the relationship between prior fracture and bone parameters in young girls. Data from 465 girls aged 8 to 13 years from the Jump-In: Building Better Bones study were analyzed. Bone parameters were assessed at metaphyseal and diaphyseal sites of the nondominant femur and tibia using peripheral quantitative computed tomography (pQCT). Dual-energy X-ray absorptiometry (DXA) was used to assess femur, tibia, lumbar spine, and total body less head bone mineral content. Binary logistic regression was used to evaluate the relationship between prior fracture and bone parameters, controlling for maturity, body mass, leg length, ethnicity, and physical activity. Associations between prior fracture and all DXA and pQCT bone parameters at diaphyseal sites were nonsignificant. In contrast, lower trabecular volumetric BMD (vBMD) at distal metaphyseal sites of the femur and tibia was significantly associated with prior fracture. After adjustment for covariates, every SD decrease in trabecular vBMD at metaphyseal sites of the distal femur and tibia was associated with 1.4 (1.1–1.9) and 1.3 (1.0–1.7) times higher fracture prevalence, respectively. Prior fracture was not associated with metaphyseal bone size (ie, periosteal circumference). In conclusion, fractures in girls are associated with lower trabecular vBMD, but not bone size, at metaphyseal sites of the femur and tibia. Lower trabecular vBMD at metaphyseal sites of long bones may be an early marker of skeletal fragility in girls. © 2011 American Society for Bone and Mineral Research. PMID:20721933

  6. 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

  7. 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

  8. 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.

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

    PubMed Central

    Evans, Sally F.

    2016-01-01

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

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

    PubMed Central

    Evans, Sally F.

    2016-01-01

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

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

    PubMed

    Davie, Michael W J; Evans, Sally F; Sharp, Christopher A

    2016-01-01

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

  12. 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

  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.

  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.

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

    PubMed

    Calabi, L

    2001-01-01

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

  16. Impaction grafting with morsellised allograft and tricalcium phosphate-hydroxyapatite: incorporation within ovine metaphyseal bone defects.

    PubMed

    Pratt, J N J; Griffon, D J; Dunlop, D G; Smith, N; Howie, C R

    2002-08-01

    An ovine model was used to investigate the in vivo properties of impacted tricalcium phosphate-hydroxyapatite (TCP-HA) aggregates, varying in chemical composition (ratio of TCP to HA) and particle size distribution (8 versus 3 particle size ranges). All pellets were impacted to a standard compactive effort. Eight sheep underwent implantation of pellets in 4 metaphyseal defects in both rear limbs. Treatment groups consisted of: (1) allograft (clinical control). (2) 50/50 allograft/80% HA/20% TCP in 8 particle size ranges, (3) 50/50 allograft/80% TCP/20% HA in 8 sizes and (4) 50/50 allograft/80% HA/20% TCP in only 3 sizes of particles. Healing of defects was evaluated at 14 weeks with computed tomography, histology and histomorphometry. The computer tomography (CT) density measured in all defects containing synthetic agents was higher than in defects filled with allograft alone (p<0.01). Defects containing 8 sizes of 80% HA/ 20% TCP granules (group 2) achieved lower histological scores and contained less bone than the clinical control (p<0.05), whereas groups 3 and 4 did not differ from the control. Although all synthetic agents were osteoconductive, our results suggest that increasing the ratio of TCP over HA and limiting the number of particle size ranges to 3 instead of 8 improve the performance of impacted aggregates as graft expanders. Evaluation under loading conditions of morsellised allograft expanded with 80% TCP/20% HA (BoneSave) in 3 particle size ranges is warranted.

  17. 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

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

    PubMed

    Delisle, Richard G

    2009-06-01

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

  19. 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.

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

    PubMed

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

    2012-08-15

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

  1. 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.

  2. Phytanic acid oxidation: normal activation and transport yet defective alpha-hydroxylation of phytanic acid in peroxisomes from Refsum disease and rhizomelic chondrodysplasia punctata.

    PubMed

    Pahan, K; Khan, M; Singh, I

    1996-05-01

    In humans the oxidation of phytanic acid is a peroxisomal function. To understand the possible mechanisms for the pathognomic accumulation of phytanic acid in plasma and body fluids of Refsum disease (RD) and rhizomelic chondrodysplasia punctata (RCDP), we investigated activities of various steps (activation, transport, and oxidation) in the metabolism of phytanic acid in peroxisomes isolated from cultured skin fibroblasts from control, RD, and RCDP subjects. Activation of phytanic acid was normal in peroxisomes from both RD and RCDP. Transport of phytanic acid or phytanoyl-CoA in the absence or presence of fatty acid activating cofactors (ATP, MgCl2, and CoASH) into peroxisomes isolated from RD and RCDP skin fibroblasts was also similar to that of peroxisomes from control fibroblasts. Defective oxidation of [(2,3)-3H]- or [1-14C]phytanic acid, or [1-14C]phytanoyl-CoA (substrate for the first step of alpha-oxidation) but normal oxidation of [1-14C] alpha-hydroxyphytanic acid (substrate for the second step of the alpha-oxidation pathway) in peroxisomes from RD clearly demonstrates that excessive accumulation of phytanic acid in plasma and body fluids of RD is due to the deficiency of phytanic acid alpha-hydroxylase in peroxisomes. However, in RCDP peroxisomes, in addition to deficient oxidation of [1-14C]phytanic acid or phytanoyl-CoA or [(2,3)-3H]phytanic acid, the oxidation of [1-14C] alpha-hydroxyphytanic acid was also deficient, indicating that in RCDP the activities both of alpha-hydroxylation of phytanic acid and decarboxylation of alpha-hydroxyphytanic acid are deficient. These observations indicate that peroxisomal membrane functions (phytanic acid activation and transport) in phytanic acid metabolism are normal in both RD and RCDP. The defect in RD is in the alpha-hydroxylation of phytanic acid; whereas in RCDP both alpha-hydroxylation of phytanic acid as well as decarboxylation of alpha-hydroxyphytanic acid are deficient.

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

    NASA Astrophysics Data System (ADS)

    Graffigna, Matías

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

  4. Effects of OP-1 and PTH in a new experimental model for the study of metaphyseal bone healing.

    PubMed

    Tsiridis, Eleftherios; Morgan, Elise F; Bancroft, Jared M; Song, Mike; Kain, Michael; Gerstenfeld, Louis; Einhorn, Thomas A; Bouxsein, Mary L; Tornetta, Paul

    2007-09-01

    The purpose of this study was to establish a reliable model of metaphyseal bone healing and to use this model to investigate the effect of recombinant human osteogenic protein 1 (rhOP-1; BMP-7) and parathyroid hormone fragment (PTH 1-34) on healing. A wedge-shaped osteotomy was created in the distal tibia of 16-week-old female New Zealand White rabbits (n = 20) and was bridged with a custom-made external fixator. Five experimental groups of four animals each were investigated. In groups 1-4 the osteotomy gap was filled with tricalcium phosphate (TCP), and the gap was left unfilled in group 5 ("normal healing"). In group 1, 200 microg OP-1 was mixed in with the TCP. Groups 2 and 3 received daily subcutaneous injections of 10 and 40 microg/kg PTH, respectively, beginning on postoperative day 1. Radiographs were taken weekly. Following sacrifice on postoperative day 28, peripheral quantitative computed tomography (pQCT), histology, and mechanical testing (axial compression and torsion) were performed. Only one animal failed to complete the full 4-week time course, and no infections were encountered. Bone healing occurred in all animals. OP-1 stimulated bone formation locally, while the lower dose of PTH enhanced bone formation systemically (p < 0.05). Tibiae treated with OP-1 exhibited higher torsional strength (p = 0.04) than those in the normal healing group. These results indicate that a reliable and reproducible surgical model of metaphyseal healing has been established. In addition, differences in systemic versus local effects of PTH and OP-1 in accelerating metaphyseal fracture healing were found.

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

    PubMed

    Morizot, Baptiste

    2012-09-01

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

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

    NASA Astrophysics Data System (ADS)

    Rusli, Aloysius

    2016-08-01

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

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

    PubMed Central

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

    2014-01-01

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

  8. 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.

  9. 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

  10. Molecular defects in the chondrodysplasias

    SciTech Connect

    Rimoin, D.L.

    1996-05-03

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

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

    PubMed

    Janz, D

    1994-01-01

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

  12. 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.

  13. 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

  14. 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.

  15. 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.

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

    PubMed

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

    2015-01-01

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

  17. 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 ...

  18. 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

  19. 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 .

  20. 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.

  1. 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

  2. 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.

  3. 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

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

    PubMed

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

    2011-11-18

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

  5. "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…

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

    ERIC Educational Resources Information Center

    Xu, Fei; Carey, Susan

    1996-01-01

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

  7. 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…

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

    PubMed

    Farrell, Martin J

    2011-05-01

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

  9. 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

    ... Five New Drug Applications AGENCY: Food and Drug Administration, HHS. ACTION: Notice. SUMMARY: The Food and Drug Administration (FDA) is withdrawing approval of five new drug applications (NDAs) from... Research, Food and Drug Administration, 10903 New Hampshire Ave., Bldg. 51, rm. 6366, Silver Spring,...

  10. 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,…

  11. 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…

  12. 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

  13. Alaskan malamute chondrodysplasia IV. Concentrations of zinc, copper and iron in various tissues.

    PubMed

    Brown, R G; Hoag, G N; Smart, M E; Boechner, G; Subden, R E

    1977-09-01

    Trace mineral concentrations in various tissues of the chondrodysplastic (dwarf) Alaskan Malamute are remarkably different as compared to normal. The zinc level in heart tissue was depressed in dwarf animals (26 weeks). Copper concentration in the liver is elevated two to four fold in 26 week old dwarf animals and iron levels are significantly elevated in kidney, liver and pancreas of these animals. These observations suggest that the dwarf Alaskan Malamutes suffer from a genetic defect in trace mineral metabolism. If this is the case, then many of the skeletal lesions reported for these animals may be attributed to disorders in either zinc or copper metabolism.

  14. 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.

  15. 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

  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. 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.

  18. Mirror neurons: Enigma of the metaphysical modular brain.

    PubMed

    Acharya, Sourya; Shukla, Samarth

    2012-07-01

    Mirror neurons are one of the most important discoveries in the last decade of neuroscience. These are a variety of visuospatial neurons which indicate fundamentally about human social interaction. Essentially, mirror neurons respond to actions that we observe in others. The interesting part is that mirror neurons fire in the same way when we actually recreate that action ourselves. Apart from imitation, they are responsible for myriad of other sophisticated human behavior and thought processes. Defects in the mirror neuron system are being linked to disorders like autism. This review is a brief introduction to the neurons that shaped our civilization.

  19. Cognitive Metaphor Theory and the Metaphysics of Immediacy

    ERIC Educational Resources Information Center

    Madsen, Mathias W.

    2016-01-01

    One of the core tenets of cognitive metaphor theory is the claim that metaphors ground abstract knowledge in concrete, first-hand experience. In this paper, I argue that this grounding hypothesis contains some problematic conceptual ambiguities and, under many reasonable interpretations, empirical difficulties. I present evidence that there are…

  20. Social Darwinism, Scientific Racism, and the Metaphysics of Race.

    ERIC Educational Resources Information Center

    Dennis, Rutledge M.

    1995-01-01

    Maintains that science is often used as a justification to propose, project, and enact racist social policies. The philosophy of Social Darwinism is reviewed, and its assumptions about race and human abilities is discussed. The consequences of scientific racism for dominant groups are analyzed. (GR)

  1. 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…

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

    PubMed Central

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

    2008-01-01

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

  3. Genetic skeletal dysplasia in Thailand: the Siriraj experience.

    PubMed

    Wasant, P; Waeteekul, S; Rimoin, D L; Lachman, R S

    1995-01-01

    Genetic skeletal dysplasias are a heterogeneous group of genetic disorders associated with abnormalities in the skeletal system frequently presenting with disproportionate short stature. There are over 100 distinct skeletal dysplasias which have been classified primarily on the basis of the clinical or radiographic characteristics. We have identified many genetic skeletal dysplasia disorders at Department of Pediatrics, Siriraj Hospital, Bangkok, Thailand. We have cases of achondroplasia, hypochondroplasia, pseudoachondroplasia, atelosteogenesis, pyknodysostosis, spondyloepiphyseal dysplasia (SED) congenita, spondylometaepiphyseal dysplasia (SMED), osteogenesis imperfecta type I, II and III, Ellis-van Creveld syndrome, cleidocranial dysostosis, thanatophoric dysplasia, rhizomelic chondrodysplasia punctata, trichorhinophalangeal syndrome, mucopolysaccharidosis I, II, IV and VI, mucolipidosis II, osteopetrosis, camptomelic dysplasia, metaphyseal dysplasia with spine involvement (Kozlowski type), Langer-Gideon syndrome and hypophosphatemic rickets. We have established a Genetic Skeletal Dysplasia Clinic at Siriraj Hospital since 1992, and see referrals from around the country. Genetic counseling is provided, including prenatal diagnosis and a multidisciplinary approach.

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

    SciTech Connect

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

    1996-05-03

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

  5. 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.

  6. 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

  7. 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)

  8. 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

  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. 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…

  11. Embodied free will beliefs: some effects of physical states on metaphysical opinions.

    PubMed

    Ent, Michael R; Baumeister, Roy F

    2014-07-01

    The present research suggests that people's bodily states affect their beliefs about free will. People with epilepsy and people with panic disorder, which are disorders characterized by a lack of control over one's body, reported less belief in free will compared to people without such disorders (Study 1). The more intensely people felt sexual desire, physical tiredness, and the urge to urinate, the less they believed in free will (Study 2). Among non-dieters, the more intensely they felt hunger, the less they believed in free will. However, dieters showed a trend in the opposite direction (Study 3).

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

    PubMed

    Arias, S; Mota, M; Pinto-Cisternas

    1976-02-01

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

  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. 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 ...

  15. 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

  16. 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

  17. Invited commentary: meta-physical activity and the search for the truth.

    PubMed

    Arem, Hannah; Keadle, Sarah Kozey; Matthews, Charles E

    2015-05-01

    Measurement error in self-reported data from questionnaires is a well-recognized challenge in studies of physical activity and health. In this issue of the Journal, Lim et al. (Am J Epidemiol. 2015;181(9):648-655) used data from accelerometers in a small measurement study to correct self-reported physical activity data from a larger study of adults from New York City and to develop an error correction model. They showed that correction of measurement error in self-reported physical activity levels strengthened the associations of physical activity with both obesity and diabetes by 30%-50% compared with using the self-reported questionnaire data alone. Thus, Lim et al. demonstrated a method to improve potentially biased estimates of the association between self-reported physical activity and disease. However, as this field develops, we feel it is important to call attention to a sometimes overlooked problem that occurs when comparing these instruments: Questionnaires and accelerometers are often calibrated (i.e., designed) to measure different types of physical activity, and accelerometers are still subject to measurement error. Thus, physical activity estimates corrected with an imperfect accelerometer measurement might over- or undercorrect the strength of the associations. We take this opportunity to further comment on physical activity measurement in epidemiologic studies and the implications for research.

  18. 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

  19. 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…

  20. 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.

  1. Judgement and the role of the metaphysics of values in medical ethics

    PubMed Central

    Thornton, T

    2006-01-01

    Despite its authors' intentions, the four principles approach to medical ethics can become crudely algorithmic in practice. The first section sets out the bare bones of the four principles approach drawing out those aspects of Beauchamp and Childress's Principles of biomedical ethics that encourage this misreading. The second section argues that if the emphasis on the guidance of moral judgement is augmented by a particularist account of what disciplines it, then the danger can be reduced. In the third section, I consider how much the resultant picture diverges from Beauchamp and Childress's actual position. PMID:16731739

  2. Phenomenology as research method or substantive metaphysics? An overview of phenomenology's uses in nursing.

    PubMed

    Earle, Vicki

    2010-10-01

    In exploring phenomenological literature, it is evident that the term 'phenomenology' holds rather different meanings depending upon the context. Phenomenology has been described as both a philosophical movement and an approach to human science research. The phenomenology of Husserl, Heidegger, Gadamer, and Merleau-Ponty was philosophical in nature and not intended to provide rules or procedures for conducting research. The Canadian social scientist, van Manen, however, introduced specific guidelines for conducting human science research, which is rooted in hermeneutic phenomenology and this particular method has been employed in professional disciplines such as education, nursing, clinical psychology, and law. The purpose of this paper is to explore the difference between the phenomenological method as described by van Manen and that of other philosophers such as Husserl, Heidegger, Gadamer, and Merleau-Ponty. In so doing, the author aims to address the blurred boundaries of phenomenology as a research method and as a philosophical movement and highlight the influence of these blurred boundaries on nursing knowledge development.

  3. 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.

  4. On the Poverty of Philosophy: The Metaphysics of McLaren's "Revolutionary Critical Pedagogy"

    ERIC Educational Resources Information Center

    Ellison, Scott

    2009-01-01

    In this essay, Scott Ellison examines a line of critical thought in educational theory that has unapologetically sought transcendence in the face contemporary social and political conditions. Under the banner of critical pedagogy, Peter McLaren sees this current period of globalization as representing a worldwide historical crisis requiring a…

  5. 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

  6. 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.

  7. 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

  8. 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

  9. 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.

  10. Sibs with mental retardation, supraorbital sclerosis, and metaphyseal dysplasia: frontometaphyseal dysplasia, craniometaphyseal dysplasia, or a new syndrome?

    PubMed Central

    Reardon, W; Hall, C M; Dillon, M J; Baraitser, M

    1991-01-01

    A brother and sister are presented with unusual facies, bilateral mixed hearing loss, mental retardation, and widespread radiological abnormalities. The clinical and radiological evidence for and against the two most likely diagnoses of frontometaphyseal dysplasia and craniometaphyseal dysplasia is considered. Images PMID:1956063

  11. 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…

  12. 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.…

  13. 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.

  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.

  15. 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…

  16. Finding the Right Kind of Awe and Wonder: The Metaphysical Potential of Religion to Ground an Environmental Ethic

    ERIC Educational Resources Information Center

    Ashley, Martin

    2006-01-01

    This paper argues that an anthropocentric fallacy permeates thinking within both technological and ecological approaches to environmentalism. In consequence, sustainable development is an incoherent concept through the weakness of its anthropocentric ethical grounding. Using the Judaeo-Christian tradition as an example, this paper examines the…

  17. 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

  18. Shwachman-Diamond syndrome: first molecular diagnosis in a Brazilian child.

    PubMed

    Alves, Cresio; Fernandes, Julia Constança; Sampaio, Silvana; Paiva, Raquel de Melo Alves; Calado, Rodrigo Tocantins

    2013-01-01

    Herein the first molecular diagnosis of a Brazilian child with Shwachman-Diamond Syndrome is reported. A 6-year-old boy was diagnosed with cystic fibrosis at the age of 15 months due to recurrent respiratory infections, diarrhea and therapeutic response to pancreatic enzymes. Three sweat tests were negative. At the age of 5 years, he began to experience pain in the lower limbs, laxity of joints, lameness and frequent falls. A radiological study revealed metaphyseal chondrodysplasia. A complete blood cell count showed leukopenia (leukocytes: 3.1-3.5 x 10(3)/µL), neutropenia (segmented neutrophils: 15-22%), but normal hemoglobin, hematocrit and platelet count. A molecular study revealed biallelic mutations in the Shwachman-Bodian-Diamond Syndrome gene (183-184TA-CT K62X in exon 2 and a 258+2T-C transition) confirming the diagnosis of Shwachman-Diamond Syndrome. A non-pathologic, silent nucleotide A to G transition at position 201 was also found in heterozygosis in the Shwachman-Bodian-Diamond Syndrome gene. This is the first report to describe a Brazilian child with molecular diagnosis of Shwachman-Diamond Syndrome, a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, intermittent or persistent neutropenia and skeletal changes. Other characteristics include immune system, hepatic and cardiac changes and predisposition to leukemia. Recurrent bacterial, viral and fungal infections are common. The possibility of Shwachman-Diamond Syndrome should be kept in mind when investigating children with a diagnosis of cystic fibrosis and normal sweat tests.

  19. 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

  20. 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.

  1. 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 ...

  2. [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

  3. 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

  4. 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

  5. Memory and Dialectics: Some Reflections on Ebbinghaus and Mao Tse-tung

    ERIC Educational Resources Information Center

    Kvale, Steinar

    1975-01-01

    The metaphysical character of psychological memory research, which emphasizes static elements and quantitative relationships, is contrasted with a dialectical approach to the development of memory in which contradictions lead to qualitative changes. Some relations of metaphysical memory research to ideology and technology are discussed. (JMB)

  6. On the Nature of Concepts.

    ERIC Educational Resources Information Center

    Ninnes, L. E.

    It is difficult to give a precise meaning to the term "concept" because to specify any sense to the term is already to be using concepts. It is impossible to talk about concepts without at the same time having made epistemological and metaphysical commitments. If the epistemological and metaphysical commitments are inadequate, then the sense given…

  7. 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…

  8. 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…

  9. 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…

  10. 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…

  11. 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

  12. GENE EXPRESSION PATTERNS OF CD-1 DAY-8 EMBRYO CULTURES EXPOSED TO BROMOCHLORO ACETIC ACID

    EPA Science Inventory

    Gene expression patterns of CD-1 day-8 embryo cultures exposed to bromochloro acetic acid

    Edward D. Karoly?*, Judith E. Schmid* and E. Sidney Hunter III*
    ?Curriculum in Toxicology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina and *Reproductiv...

  13. TRANSCRIPTIONAL RESPONSES OF MOUSE EMBRYO CULTURES EXPOSED TO BROMOCHLOROACETIC ACID

    EPA Science Inventory

    Transcriptional responses of mouse embryo cultures exposed to bromochloroacetic acid

    Edward D. Karoly?*, Judith E. Schmid* and E. Sidney Hunter III*
    ?Curriculum in Toxicology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina and *Reproductive Tox...

  14. First Language Attrition in the Speech of Dutch-English Bilinguals: The Case of Monozygotic Twin Sisters

    ERIC Educational Resources Information Center

    Mayr, Robert; Price, Sacha; Mennen, Ineke

    2012-01-01

    Recent years have seen a proliferation of research on attrition in L1 speech (de Leeuw, Mennen & Scobbie, in press; de Leeuw, Schmid & Mennen, 2010; Dmitrieva, Jongman & Sereno, 2010; Mennen, 2004). Adding to this line of inquiry, the present study investigates the speech of a 62-year-old bilingual monozygotic twin who emigrated to an L2-speaking…

  15. The 26th anniversary outburst of jet-driving symbiotic binary MWC 560: results from Chandra, Swift, and optical spectroscopy

    NASA Astrophysics Data System (ADS)

    Lucy, Adrian B.; Sokoloski, J. L.; Munari, U.; Kuin, N. P. M.; Darnley, M. J.; Luna, G. J. M.; Knigge, C.; Valisa, P.; Milani, A.

    2016-03-01

    The symbiotic star MWC 560 = V694 Mon, which is believed to usually drive a jet along the line of sight (e.g., Schmid et al. 2001), is undergoing a sustained outburst (ATel #8653) rivaling its previous brightest outburst of 1990 (Tomov et al. 1990, Leibowitz and Formiggini 2015).

  16. RNA PROFILES OF EJACULATED HUMAN SPERMATOZOA

    EPA Science Inventory

    RNA Profiles of Ejaculated Human Spermatozoa

    Kary E. Thompson, Wenjun Bao, Sally D. Perreault, Hongzu Ren, John C. Rockett, Judith E. Schmid, Lillian F. Strader, David J. Dix
    Reproductive Toxicology Division, National Health and Environmental Effects Research Laboratory...

  17. GENE EXPRESSION PROFILING OF ACCESSIBLE SURROGATE TISSUES TO MONITOR MOLECULAR CHANGES IN INACCESSIBLE TARGET TISSUES FOLLOWING TOXICANT EXPOSURE

    EPA Science Inventory

    Gene Expression Profiling Of Accessible Surrogate Tissues To Monitor Molecular Changes In Inaccessible Target Tissues Following Toxicant Exposure
    John C. Rockett, Chad R. Blystone, Amber K. Goetz, Rachel N. Murrell, Judith E. Schmid and David J. Dix
    Reproductive Toxicology ...

  18. DNA ARRAYS TO MONITOR GENE EXPRESSION IN RAT BLOOD AND UTERUS FOLLOWING 17-BETA-ESTRADIOL EXPOSURE: BIOMONITORING ENVIRONMENTAL EFFECTS USING SURROGATE TISSUES

    EPA Science Inventory

    DNA arrays to monitor gene expression in rat blood and uterus following 17-b-estradiol exposure - biomonitoring environmental effects using surrogate tissues
    John C. Rockett, Robert J. Kavlock, Christy R. Lambright, Louise G. Parks, Judith E. Schmid, Vickie S. Wilson, Carmen W...

  19. Migration of grain boundaries and triple junctions in high-purity aluminum during annealing after slight cold rolling

    SciTech Connect

    Yin, Wenhong; Wang, Weiguo; Fang, Xiaoying; Qin, Congxiang; Xing, Xiaoguang

    2015-09-15

    Grain orientations and grain boundary migrations near triple junctions in a high purity aluminum were analyzed by electron back scattered diffraction. The results indicate that there are good correlations between the Schmid factors or Taylor factors and the misorientation values of point to original point in grains near the triple junctions in a slightly deformed sample. Grains with higher Schmid factors or lower Taylor factors typically correspond to higher misorientation values near the triple junctions. In a subsequent annealing at 400 °C, both grain boundaries and triple junctions migrate, but the former leave ghost lines. During such migration, a grain boundary grows from the grain with lower Schmid factor (higher Taylor factor) into the grain with higher Schmid factor (lower Taylor factor). Usually, the amount of migration of a grain boundary is considerably greater than that of a triple junction, and the grain boundary becomes more curved after migration. These observations indicate that the triple junctions have drag effects on grain boundary migration. - Highlights: • Polycrystalline aluminum with fine grains about 30 μm were used. • Off-line in situ EBSD was used to identify TJs before and after annealing. • Grains with higher SFs have higher misorientation values near TJs after deformation. • Grain boundaries grow from hard grains into soft grains during annealing. • Triple junctions have drag effects on grain boundaries migration.

  20. Shell Nouns as Cohesive Devices in Published and ESL Student Writing

    ERIC Educational Resources Information Center

    Aktas, Rahime Nur; Cortes, Viviana

    2008-01-01

    This paper analyzes the use of a special type of unspecific noun, called "shell nouns" [Hunston, S., & Francis, G. (1999). "Pattern grammar". Amsterdam: Benjamins; Schmid, H. (2000). "English abstract nouns as conceptual shells: From corpus to cognition". Berlin: Walter de Gruyter], which are frequently used as cohesive devices, in the written…

  1. EXPRESSION OF AHR AND ARNT MRNA IN CULTURED HUMAN ENDOMETRIAL EXPLANTS EXPOSED TO TCDD

    EPA Science Inventory

    Expression of AhR and ARNT mRNA in cultured human endometrial explants exposed to TCDD.

    Pitt JA, Feng L, Abbott BD, Schmid J, Batt RE, Costich TG, Koury ST, Bofinger DP.

    Curriculum in Toxicology, University of North Carolina, Chapel Hill, NC 27599, USA.

    Endom...

  2. An Exploratory Investigation of the Factor Structure of the Reynolds Intellectual Assessment Scales (RIAS)

    ERIC Educational Resources Information Center

    Dombrowski, Stefan C.; Watkins, Marley W.; Brogan, Michael J.

    2009-01-01

    This study investigated the factor structure of the Reynolds Intellectual Assessment Scales (RIAS) using rigorous exploratory factor analytic and factor extraction procedures. The results of this study indicate that the RIAS is a single factor test. Despite these results, higher order factor analysis using the Schmid-Leiman procedure indicates…

  3. 75 FR 76704 - Endangered Species; File Nos. 13307, 13544, and 14586

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-12-09

    ... given that NMFS has issued a permit and two permit modifications to take sea turtles and marine mammals... published in the Federal Register (75 FR 9580) that a request for a scientific research permit to take sea... Jeffrey Schmid, PhD, Conservancy of Southwest Florida, Naples, FL, for sea turtle research. On April...

  4. First Language Attrition

    ERIC Educational Resources Information Center

    Schmid, Monika S.

    2016-01-01

    Language attrition research has developed in several clearly delimited phases spanning, roughly, each of the three decades between 1982 and 2012 (see Kopke & Schmid 2004 for a more detailed overview and analysis). The first phase was an era of stocktaking, with a number of symposia, collected volumes and special issues of journals. All of…

  5. COMPARISON OF THREE METHODS FOR COUNTING HUMAN SPERMATOZOA

    EPA Science Inventory

    COMPARISON OF THREE METHODS FOR COUNTING HUMAN SPERMATOZOA SC Jeffay1, LF Strader1, RA Morris1, JE Schmid1, AF Olshan2, LW Lansdell2, SD Perreault1. 1US EPA/ORD, RTP, NC; 2UNC-CH, Chapel Hill, NC.
    The IDENT feature of the HTM-IVOS semen analyzer (Hamilton Thorne Research, Bev...

  6. Research as Pedagogy: Using Experimental Data Collection as a Course Learning Tool

    ERIC Educational Resources Information Center

    Beard, Virginia; Booke, Paula

    2016-01-01

    Integrating research in the classroom experience is recognized as potentially important in enhancing student learning (Price 2001; Schmid 1992). This article asks if student integration as research subjects augments their learning about political science. A quasi-experimental project focused on media usage, construction, and influences on the…

  7. 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...

  8. Proceedings of the Annual Conference of the Western Regional Home Management-Family Economics Educators (25th, Scottsdale, Arizona, November 6-8, 1985).

    ERIC Educational Resources Information Center

    Berry, Ruth E., Ed.

    These proceedings consist of 12 presentations, most of which are followed by responses or comments. The papers include: "Integrating Family Economics and Family Counseling" (Hogan; discussants Schnittgrund, Wilhelm); "A Test of the Deacon-Firebaugh Management Model" (Gage, Schmid); "Perceived Income Adequacy and Selected Financial Management…

  9. EBSD analysis of (10–12) twinning activity in Mg–3Al–1Zn alloy during compression

    SciTech Connect

    Wang, Bingshu; Deng, Liping; Guo, Ning; Xu, Zeren; Li, Qiang

    2014-12-15

    The (10–12) twinning activity of Mg–3Al–1Zn magnesium alloy during uniaxial compression at room temperature has been investigated by electron backscatter diffraction. The results indicated that the twinning activity was closely related with two angles: one was the angle between the c-axis and the compression direction and the other was the angle between the a-axis and the titling direction in the basal plane for a given relation between the c-axis and the compression direction. These two parameters can be used to explain which twinning variant will operate under the given strain path. For the grains containing a single (10–12) twinning variant, the (10–12) twinning variant occurred in a wide range of Schmid factor values (0 < Schmid factor < 0.5) and the Schmid factor rank of 1 or 2 was the most commonly observed. By contrast, for the grains containing two (10–12) twinning variants, the (10–12) twinning activity exhibited a stronger orientation dependence and the combinations of Schmid factor ranks 1–3 and 1–2 were the most commonly observed. - Highlights: • Twinning activity of AZ31 magnesium alloy was investigated by EBSD. • (10–12) twinning shows a strong orientation dependence. • Two angles can be used to explain which twin variant will operate.

  10. Using Buttons to Better Manage Online Presence: How One Academic Institution Harnessed the Power of Flair

    ERIC Educational Resources Information Center

    Dority Baker, Marcia L.

    2013-01-01

    This article provides a case study of how the University of Nebraska College of Law and Schmid Law Library use "buttons" to manage Law College faculty members' and librarians' online presence. Since Google is the primary search engine used to find information, it is important that librarians and libraries assist Web site…

  11. MICROARRAY DATA ANALYSIS USING MULTIPLE STATISTICAL MODELS

    EPA Science Inventory

    Microarray Data Analysis Using Multiple Statistical Models

    Wenjun Bao1, Judith E. Schmid1, Amber K. Goetz1, Ming Ouyang2, William J. Welsh2,Andrew I. Brooks3,4, ChiYi Chu3,Mitsunori Ogihara3,4, Yinhe Cheng5, David J. Dix1. 1National Health and Environmental Effects Researc...

  12. DEVELOPMENTAL TOXICITY OF PERFLUOROOCATANE SULFONATE (PFOS) IN THE RAT AND MOUSE

    EPA Science Inventory

    1Lau, C., 1J.M. Rogers, 1R.G. Hanson*, 1B.D. Barbee*, 1M.G. Narotsky, 1J.E. Schmid* and 2J.H. Richards*. 1Reproductive Toxicology Division, and 2Environmental Toxicology Division, NHEERL, US EPA, Research Triangle Park, North Carolina. Developmental toxicity of Perfluorooctane ...

  13. GENOMIC ANALYSIS OF SURROGATE TISSUES FOR ASSESSING ENVIRONMENTAL EXPOSURES AND FUTURE DISEASE STATES

    EPA Science Inventory

    Genomic Analysis of Surrogate Tissues for Assessing Environmental Exposures and Future Disease States

    John C. Rockett, Chad R. Blystone, Amber K. Goetz, Rachel N. Murrell, Hongzu Ren, Judith E. Schmid, Jessica Stapelfeldt, Lillian F. Strader, Kary E. Thompson, Douglas B. T...

  14. The Revised Child Anxiety and Depression Scale-Short Version: Scale Reduction via Exploratory Bifactor Modeling of the Broad Anxiety Factor

    ERIC Educational Resources Information Center

    Ebesutani, Chad; Reise, Steven P.; Chorpita, Bruce F.; Ale, Chelsea; Regan, Jennifer; Young, John; Higa-McMillan, Charmaine; Weisz, John R.

    2012-01-01

    Using a school-based (N = 1,060) and clinic-referred (N = 303) youth sample, the authors developed a 25-item shortened version of the Revised Child Anxiety and Depression Scale (RCADS) using Schmid-Leiman exploratory bifactor analysis to reduce client burden and administration time and thus improve the transportability characteristics of this…

  15. GENE EXPRESSION PROFILING IN TESTIS AND LIVER OF MICE TO IDENTIFY MODES OF ACTION OF CONAZOLE TOXICITIES

    EPA Science Inventory

    Gene Expression Profiling in Testis and Liver of Mice to Identify MODES OF ACTION OF Conazole TOXICITies

    Amber K. Goetz1, Wenjun Bao2, Judith E. Schmid2, Carmen Wood2, Hongzu Ren2, Deborah S. Best2, Rachel N. Murrell1, John C. Rockett2, Michael G. Narotsky2, Douglas C. Wol...

  16. PROFILING GENE EXPRESSION IN HUMAN H295R ADRENOCORTICAL CARCINOMA CELLS AND RAT TESTES TO IDENTIFY PATHWAYS OF TOXICITY FOR CONAZOLE FUNGICIDES

    EPA Science Inventory

    Profiling Gene Expression in Human H295R Adrenocortical Carcinoma Cells and Rat Testes to Identify Pathways of Toxicity for Conazole Fungicides
    Ren1, H., Schmid1, J., Retief2, J., Turpaz2, Y.,Zhang3, X.,Jones3, P., Newsted3, J.,Giesy3, J., Wolf1, D.,Wood1, C., Bao1, W., Dix1, ...

  17. Investigating the Structure of the WJ-III Cognitive in Early School Age through Two Exploratory Bifactor Analysis Procedures

    ERIC Educational Resources Information Center

    Dombrowski, Stefan C.

    2014-01-01

    Two exploratory bifactor methods (e.g., Schmid-Leiman [SL] and exploratory bifactor analysis [EBFA]) were used to investigate the structure of the Woodcock-Johnson III (WJ-III) Cognitive in early school age (age 6-8). The SL procedure is recognized by factor analysts as a preferred method for EBFA. Jennrich and Bentler recently developed an…

  18. Modeling Ability Differentiation in the Second-Order Factor Model

    ERIC Educational Resources Information Center

    Molenaar, Dylan; Dolan, Conor V.; van der Maas, Han L. J.

    2011-01-01

    In this article we present factor models to test for ability differentiation. Ability differentiation predicts that the size of IQ subtest correlations decreases as a function of the general intelligence factor. In the Schmid-Leiman decomposition of the second-order factor model, we model differentiation by introducing heteroscedastic residuals,…

  19. RNA PROFILES IN RAT AND MOUSE EPIDIDYMAL SPERMATOZOA

    EPA Science Inventory

    RNA PROFILES IN RAT AND MOUSE EPIDIDYMAL SPERMATOZOA
    Kary E. Thompson1, Hongzu Ren1, Judith E. Schmid1 and David J. Dix1
    1Reproductive Toxicology Division, NHEERL, ORD, U.S. Environmental Protection Agency, RTP, NC.

    Mature spermatozoa are transcriptionally inactive...

  20. A DATABASE FOR TRACKING REPRODUCTIVE TOXICOGENOMIC DATA

    EPA Science Inventory

    A Database for Tracking Reproductive Toxicogenomic Data
    Wenjun Bao, Judy Schmid, Amber Goetz, Hongzu Ren and David Dix
    Reproductive Toxicology Division, National Health and Environmental Effects Research Laboratory, Office of Research and Development, U.S. Environmental Pr...

  1. Investigation of the Factor Structure of the Wechsler Adult Intelligence Scale-Fourth Edition (WAIS-IV): Exploratory and Higher Order Factor Analyses

    ERIC Educational Resources Information Center

    Canivez, Gary L.; Watkins, Marley W.

    2010-01-01

    The present study examined the factor structure of the Wechsler Adult Intelligence Scale-Fourth Edition (WAIS-IV; D. Wechsler, 2008a) standardization sample using exploratory factor analysis, multiple factor extraction criteria, and higher order exploratory factor analysis (J. Schmid & J. M. Leiman, 1957) not included in the WAIS-IV Technical and…

  2. GENE ARRAY ANALYSIS OF THE VENTRAL PROSTATE IN RATS EXPOSED TO EITHER VINCLOZOLIN OR PROCYMIDONE

    EPA Science Inventory

    GENE ARRAY ANALYSIS OF THE VENTRAL PROSTATE IN RATS EXPOSED TO EITHER VINCLOZOLIN OR PROCYMIDONE. MB Rosen, VS Wilson, JE Schmid, and LE Gray Jr. US EPA, ORD, NHEERL, RTP, NC.

    Vinclozolin (Vi) and procymidone (Pr) are antiandrogenic fungicides. While changes in gene expr...

  3. ALTERED TRANSCRIPTIONAL RESPONSES OF MOUSE EMBRYO CULTURES EXPOSED TO BISINDOLYLMALEIMIDE (BIS L)

    EPA Science Inventory

    Altered transcriptional responses in mouse embryos exposed to bisindolylmaleimide I (Bis I) in whole embryo culture

    Edward D. Karoly?*, Judith E. Schmid*, Maria R. Blanton*and E. Sidney Hunter III*
    ?Curriculum in Toxicology, University of North Carolina at Chapel Hill, ...

  4. [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

  5. [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

  6. [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

  7. 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.

  8. AL 288-1--Lucy or Lucifer: gender confusion in the Pliocene.

    PubMed

    Tague, R G; Lovejoy, C O

    1998-07-01

    Häusler & Schmid (1995) challenged the long held opinion that AL 288-1 (Australopithecus afarensis), popularly known as "Lucy", was female. They concluded that AL 288-1 was most probably male ("Lucifer") and, by extension, the hypodigm for A. afarensis consists of two species which differ from one another in body size; in their opinion, AL 288-1 was most probably a male of the smaller of the two species. Häusler & Schmid based their conclusion on an obstetric analysis of AL 288-1 and Sts 14 (A. africanus) and on a comparison of the two australopithecine pelves with those of modern humans. This study evaluates the pelvic anatomy and probable sex of AL 288-1 by both assessing the obstetric adequacy of its pelvis and critically reviewing Häusler & Schmid's (1995, 1997) analyses of australopithecine pelvic dimorphism and relative body size of AL 288-1. Three results are shown. First, using Häusler & Schmid's own data, AL-288-1's and Sts 14's pelves are seen not to be dimorphic with respect to each other, as are human males and females, but they are in fact comparable in both size and shape. Second, AL 288-1's pelvis would have been obstetrically adequate, even with an inferred newborn brain size (as suggested by Häusler & Schmid) for A. afarensis that is likely overestimated. Third, AL 288-1 is shown to be one of the smallest adult individuals in A. afarensis. We conclude that AL 288-1 and Sts 14 were the same sex, and that the name "Lucy" correctly identifies AL 288-1's gender as female. PMID:9680468

  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.

  10. 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.

  11. The Inconsistencies at the Foundation of Construct Validation Theory.

    ERIC Educational Resources Information Center

    Norris, Stephen P.

    1983-01-01

    Construct validation theory is founded upon conflicting metaphysical principles, methodological approaches, and standards of adequacy. This paper explores these unrecognized conflicts and indicates some consequences that these conflicts have for construct validation theory. (Author/PN)

  12. Hegel as a Philosopher of Education

    ERIC Educational Resources Information Center

    Soll, Ivan

    1972-01-01

    In this essay author attempts to locate elements of Hegelian philosophy of education and separate them as much as is possible and desirable from the metaphysical matrices in which they are embedded. (Author/MB)

  13. Plato's Pharmacy and Derrida's Drugstore.

    ERIC Educational Resources Information Center

    Mortensen, Chris

    2000-01-01

    In a long essay titled "Plato's Pharmacy, Jacques Derrida attacked Western metaphysics. This article undertakes to defend Western philosophy from Derrida's arguments. It is shown that Derrida's arguments are very unsatisfactory. (Author/VWL)

  14. Le cinema policier en France (Detective Films in France).

    ERIC Educational Resources Information Center

    Guerif, Francois

    1984-01-01

    A survey of French detective films since 1908 looks at how French and other detective novels have inspired a film genre, from the original serial through classic suspense, thriller, the crime novel, and comedy to the political and metaphysical. (MSE)

  15. Types of OI

    MedlinePlus

    ... soft bone, and the disruption of the growth plates lead to bowing and progressive malformation. Children have ... occur frequently. The altered structure of the growth plates gives a popcorn-like appearance to the metaphyses ...

  16. The lead line in bone---a lesion apparently due to chondroclastic indigestion.

    PubMed Central

    Eisenstein, R.; Kawanoue, S.

    1975-01-01

    The metaphyseal line of increased radiodensity which occurs in lead poisoning was studied in children and young monkeys with lead encephalopathy and in guinea pigs. The histologic lesion consists of impaired resorption of calcified metaphyseal cartilage, depressed bone deposition on cartilaginous surfaces, and the accumulation of numerous multinucleate giant cells, some containing lead inclusions. By electron microscopy, the giant cells appear to be osteoclasts and chondroclasts containing large amounts of mineralized cartilage matrix. We interpret the lead line to be the result of a lead-induced inability of cartilage-resorbing cells to degrade mineralized matrix, with a resultant impairment of metaphyseal cartilage resorption. The radiodensity of the lead line would thus be due to persistent mineralized metaphyseal cartilage and not to a primary osseous change. Some observations on lead inclusions in these cells suggest that the fibrillar component forms before the amorphous part. Images Figure 4 Figure 5 Figure 6 Figure 7 Figure 1 Figures 2 and 3 PMID:169701

  17. The Cosmology of Edgar Allan Poe

    NASA Astrophysics Data System (ADS)

    Cappi, Alberto

    2011-06-01

    Eureka is a ``prose poem'' published in 1848, where Edgar Allan Poe presents his original cosmology. While starting from metaphysical assumptions, Poe develops an evolving Newtonian model of the Universe which has many and non casual analogies with modern cosmology. Poe was well informed about astronomical and physical discoveries, and he was influenced by both contemporary science and ancient ideas. For these reasons, Eureka is a unique synthesis of metaphysics, art and science.

  18. Case report 632. Parosteal osteochondromatous hamartoma associated with Trevor's disease (dysplasia epiphysealis hemimelica).

    PubMed

    Abrahams, T G; Whitten, C G; Jones, M; Dorfman, H J

    1991-01-01

    The current case represents a patient with classic plain film findings of Trevor's disease (DEH) seen in the foot and ankle, who presented with a large, eccentric metaphyseal lesion in the ipsilateral distal femur. The radiographic and pathologic characteristics of this large metaphyseal lesion were considered atypical for a simple osteochondroma; therefore, we propose the term "parosteal osteochondromatous hamartoma" as a descriptive term that best fits its unique characteristics. PMID:2000504

  19. The contextual and modal character of quantum mechanics : a formal and philosophical analysis in the foundations of physics

    NASA Astrophysics Data System (ADS)

    de Ronde, C.

    2011-11-01

    This doctoral dissertation contains four main elements: 1. We put forward an interpretational map of quantum mechanics in general and of the modal interpretation in particular based on metaphysical and anti-metaphysical stances. 2. In contraposition to what we characterize as the anti-metaphysical and classical metaphysical stances we collect arguments in favor of a constructive metaphysical stance. 3. We analyze the meaning of contextuality and possibility in quantum theory in general, and in the modal interpretation in particular. 4. Finally, we end up with a proposal for the development of a possible constructive metaphysical scheme based on the notion of potentiality. Although some of these problems are well known in the literature we attempt to cast new light on the discussion through the analysis of the concepts involved and their relation to the formalism. We attempt to make explicit the tension in between the theoretical conditions and the conceptual structure of the theory, in order to discuss and disclose the metaphysical ideas involved within the different interpretational problems of quantum mechanics. We believe that this analysis can help us to understand much of the implicit background of such theoretical conditions. The dissertation centers itself on the modal and contextual character of quantum mechanics. On the one hand, we discuss the contextual character of quantum possibility through the development of a Modal Kochen-Specker theorem, and on the other hand, we analyze the contextual character of quantum correlations through the distinction of properties. In the last part we discuss some more speculative ideas related to the possible metaphysical developments of quantum mechanics based on the notion of potentiality.

  20. Two philosophers in search of a contradiction: a response to Singer and Kuhse.

    PubMed Central

    Long, T A

    1990-01-01

    Peter Singer and Helga Kuhse reject my claim that because their views on the mortality of infanticide are metaphysically incommensurate with those of Paul Ramsey they cannot refute his position. According to them, I have failed to see that Ramsey contradicts himself. Once this is seen, no further refutation is needed. I argue that there is no contradiction and offer further thoughts on the metaphysically incommensurate. PMID:2366239

  1. Overuse upper extremity injuries in the skeletally immature patient: beyond Little League shoulder and elbow.

    PubMed

    Marshall, Kelley W

    2014-11-01

    Overuse injuries of the shoulder and elbow are common in the skeletally immature throwing athlete. This review goes beyond describing the classic imaging findings of Little League shoulder and elbow and probes deeper into new insights suggesting a unifying etiology of metaphyseal or metaphyseal equivalent injury as the cause of many of the bony lesions described. Injury patterns change depending on the athlete's skeletal maturation, and the spectrum of abnormalities is reviewed.

  2. Effect of crystallographic orientation on subcritical grain boundary cracking in a conventionally cast polycrystalline nickel-based superalloy.

    PubMed

    Swaminathan, Kameshwaran; Blendell, John E; Trumble, Kevin P

    2013-08-01

    The role of grain orientation and grain boundary misorientation on the formation of subcritical grain boundary cracks in creep of a conventionally cast nickel-based superalloy has been studied. The crystallographic orientations of the grains adjacent to grain boundaries normal to the tensile axis were measured using electron backscattered diffraction. The difference in the Schmid factor for the {111} <112> slip system between the grains was compared to the occurrence of grain boundary cracking. In addition, the difference in the amount of potential primary creep was calculated. The cracked grain boundaries were found to have a larger difference in Schmid factor, as well as a larger difference in potential primary creep, compared with uncracked grain boundaries. PMID:23718929

  3. Effect of crystallographic orientation on subcritical grain boundary cracking in a conventionally cast polycrystalline nickel-based superalloy.

    PubMed

    Swaminathan, Kameshwaran; Blendell, John E; Trumble, Kevin P

    2013-08-01

    The role of grain orientation and grain boundary misorientation on the formation of subcritical grain boundary cracks in creep of a conventionally cast nickel-based superalloy has been studied. The crystallographic orientations of the grains adjacent to grain boundaries normal to the tensile axis were measured using electron backscattered diffraction. The difference in the Schmid factor for the {111} <112> slip system between the grains was compared to the occurrence of grain boundary cracking. In addition, the difference in the amount of potential primary creep was calculated. The cracked grain boundaries were found to have a larger difference in Schmid factor, as well as a larger difference in potential primary creep, compared with uncracked grain boundaries.

  4. Twinning behavior of polycrystalline alpha-uranium under quasi static compression

    NASA Astrophysics Data System (ADS)

    Zhou, Ping; Xiao, Dawu; Wang, Wenyuan; Sang, Ge; Zhao, Yawen; Zou, Dongli; He, Lifeng

    2016-09-01

    Deformation twins in cast uranium strained to 4.2% and 6.2% by quasi static compression were investigated using electron backscattered diffraction and transmission electron microscopy. Twin types of {130}, '{172}', {112} and '{176}' were observed in present experiment. All the operative twin variants in each twin type have the highest Schmid factor among the equivalent variants. Some {130} twins in cast uranium were inclined to disappear during subsequent loading through the re-twinning processes with Schmid factor values greater than 0.4. The '(-176)' variant was identified by indexing the electron diffraction pattern combining with the stereographic projection analysis. Twin pairs of '(-176)'-'(-17-2)' occurred in the adjacent grains were well matched with the geometric compatibility factor value of 0.933.

  5. Three new species of Atopsyche Banks (Trichoptera, Hydrobiosidae) from Brazil

    PubMed Central

    Santos, Allan P. M.; Holzenthal, Ralph W.

    2012-01-01

    Abstract Three new species of Atopsyche Banks (Hydrobiosidae) from Brazil are described and illustrated: Atopscyhe (Atopsaura) blahniki sp. n., Atopsyche (Atopsyche) parauna sp. n., and Atopsyche (Atopsaura) galharada sp. n. Additional illustrations of the male genitalia of Atopsyche urumarca Schmid are provided, including its populational variation. Also, we provide new state records for 2 species: Atopsyche (Atopsyche) urumarca from São Paulo, and Atopsyche (Atopsaura) plancki Marlier from Santa Catarina. PMID:22855641

  6. SURFACE SCIENCE: How to Power a Nanomotor.

    PubMed

    Besenbacher, F; Nørskov, J K

    2000-11-24

    A successful nanotechnology will require nanomotors that can perform functions from switches to pumps and actuators. In their Perspective, Besenbacher and Nørskov discuss the study by Schmid et al., who show that tin islands on a copper surfaces propel themselves forward on the surface, drawing energy from alloy formation with the surface below. The system has about the same power-to-weight ratio as a car and may provide a paradigm for future nanomotors.

  7. Invited Paper: The Rediscovery of Bifactor Measurement Models

    PubMed Central

    Reise, Steven P.

    2012-01-01

    Bifactor latent structures were introduced over 70 years ago, but only recently has bifactor modeling been rediscovered as an effective approach to modeling construct-relevant multidimensionality in a set of ordered categorical item responses. I begin by describing the Schmid-Leiman bifactor procedure (Schmid & Leiman, 1957), and highlight its relations with correlated-factors and second-order exploratory factor models. After describing limitations of the Schmid-Leiman, two newer methods of exploratory bifactor modeling are considered, namely, analytic bifactor (Jennrich & Bentler, 2011) and target bifactor rotations (Reise, Moore, & Maydeu-Olivares, 2011). In section two, I discuss limited and full-information estimation approaches to confirmatory bifactor models that have emerged from the item response theory and factor analysis traditions, respectively. Comparison of the confirmatory bifactor model to alternative nested confirmatory models and establishing parameter invariance for the general factor also are discussed. In the final section, important applications of bifactor models are reviewed. These applications demonstrate that bifactor modeling potentially provides a solid foundation for conceptualizing psychological constructs, constructing measures, and evaluating a measure’s psychometric properties. However, some applications of the bifactor model may be limited due to its restrictive assumptions. PMID:24049214

  8. EBSD characterization of twinning in cold-rolled CP-Ti

    SciTech Connect

    Li, X.; Duan, Y.L.; Xu, G.F.; Peng, X.Y.; Dai, C.; Zhang, L.G.; Li, Z.

    2013-10-15

    This work presents the use of a mechanical testing system and the electron backscatter diffraction technique to study the mechanical properties and twinning systems of cold-rolled commercial purity titanium, respectively. The dependence of twinning on the matrix orientation is analyzed by the distribution map of Schmid factor. The results showed that the commercial purity titanium experienced strong strain hardening and had excellent formability during rolling. Both the (112{sup ¯}2)<112{sup ¯}3{sup ¯}> compressive twins and (101{sup ¯}2)<101{sup ¯}1{sup ¯}> tensile twins were dependent on the matrix orientation. The Schmid factor of a grain influenced the activation of a particular twinning system. The specific rolling deformation of commercial purity titanium controlled the number and species of twinning systems and further changed the mechanical properties. - Highlights: • CP-Ti experienced strain hardening and had excellent formability. • Twins were dependent on the matrix orientation. • Schmid factor of a grain influenced the activation of a twinning system. • Rolling deformation controlled twinning systems and mechanical properties.

  9. TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.

    PubMed

    Schmidts, Miriam; Hou, Yuqing; Cortés, Claudio R; Mans, Dorus A; Huber, Celine; Boldt, Karsten; Patel, Mitali; van Reeuwijk, Jeroen; Plaza, Jean-Marc; van Beersum, Sylvia E C; Yap, Zhi Min; Letteboer, Stef J F; Taylor, S Paige; Herridge, Warren; Johnson, Colin A; Scambler, Peter J; Ueffing, Marius; Kayserili, Hulya; Krakow, Deborah; King, Stephen M; Beales, Philip L; Al-Gazali, Lihadh; Wicking, Carol; Cormier-Daire, Valerie; Roepman, Ronald; Mitchison, Hannah M; Witman, George B

    2015-01-01

    The analysis of individuals with ciliary chondrodysplasias can shed light on sensitive mechanisms controlling ciliogenesis and cell signalling that are essential to embryonic development and survival. Here we identify TCTEX1D2 mutations causing Jeune asphyxiating thoracic dystrophy with partially penetrant inheritance. Loss of TCTEX1D2 impairs retrograde intraflagellar transport (IFT) in humans and the protist Chlamydomonas, accompanied by destabilization of the retrograde IFT dynein motor. We thus define TCTEX1D2 as an integral component of the evolutionarily conserved retrograde IFT machinery. In complex with several IFT dynein light chains, it is required for correct vertebrate skeletal formation but may be functionally redundant under certain conditions. PMID:26044572

  10. TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

    PubMed Central

    Schmidts, Miriam; Hou, Yuqing; Cortés, Claudio R.; Mans, Dorus A.; Huber, Celine; Boldt, Karsten; Patel, Mitali; van Reeuwijk, Jeroen; Plaza, Jean-Marc; van Beersum, Sylvia E. C.; Yap, Zhi Min; Letteboer, Stef J. F.; Taylor, S. Paige; Herridge, Warren; Johnson, Colin A.; Scambler, Peter J.; Ueffing, Marius; Kayserili, Hulya; Krakow, Deborah; King, Stephen M.; Beales, Philip L.; Al-Gazali, Lihadh; Wicking, Carol; Cormier-Daire, Valerie; Roepman, Ronald; Mitchison, Hannah M.; Witman, George B.; Al-Turki, Saeed; Anderson, Carl; Anney, Richard; Antony, Dinu; Asimit, Jennifer; Ayub, Mohammad; Barrett, Jeff; Barroso, Inês; Bentham, Jamie; Bhattacharya, Shoumo; Blackwood, Douglas; Bobrow, Martin; Bochukova, Elena; Bolton, Patrick; Boustred, Chris; Breen, Gerome; Brion, Marie-Jo; Brown, Andrew; Calissano, Mattia; Carss, Keren; Chatterjee, Krishna; Chen, Lu; Cirak, Sebhattin; Clapham, Peter; Clement, Gail; Coates, Guy; Collier, David; Cosgrove, Catherine; Cox, Tony; Craddock, Nick; Crooks, Lucy; Curran, Sarah; Daly, Allan; Danecek, Petr; Smith, George Davey; Day-Williams, Aaron; Day, Ian; Durbin, Richard; Edkins, Sarah; Ellis, Peter; Evans, David; Farooqi, I. Sadaf; Fatemifar, Ghazaleh; Fitzpatrick, David; Flicek, Paul; Floyd, Jamie; Foley, A. Reghan; Franklin, Chris; Futema, Marta; Gallagher, Louise; Gaunt, Tom; Geschwind, Daniel; Greenwood, Celia; Grozeva, Detelina; Guo, Xiaosen; Gurling, Hugh; Hart, Deborah; Hendricks, Audrey; Holmans, Peter; Huang, Jie; Humphries, Steve E.; Hurles, Matt; Hysi, Pirro; Jackson, David; Jamshidi, Yalda; Jewell, David; Chris, Joyce; Kaye, Jane; Keane, Thomas; Kemp, John; Kennedy, Karen; Kent, Alastair; Kolb-Kokocinski, Anja; Lachance, Genevieve; Langford, Cordelia; Lee, Irene; Li, Rui; Li, Yingrui; Ryan, Liu; Lönnqvist, Jouko; Lopes, Margarida; MacArthur, Daniel G.; Massimo, Mangino; Marchini, Jonathan; Maslen, John; McCarthy, Shane; McGuffin, Peter; McIntosh, Andrew; McKechanie, Andrew; McQuillin, Andrew; Memari, Yasin; Metrustry, Sarah; Min, Josine; Moayyeri, Alireza; Morris, James; Muddyman, Dawn; Muntoni, Francesco; Northstone, Kate; O'Donovan, Michael; O'Rahilly, Stephen; Onoufriadis, Alexandros; Oualkacha, Karim; Owen, Michael; Palotie, Aarno; Panoutsopoulou, Kalliope; Parker, Victoria; Parr, Jeremy; Paternoster, Lavinia; Paunio, Tiina; Payne, Felicity; Perry, John; Pietilainen, Olli; Plagnol, Vincent; Quail, Michael A.; Quaye, Lydia; Raymond, Lucy; Rehnström, Karola; Brent Richards, J.; Ring, Sue; Ritchie, Graham R S; Savage, David B.; Schoenmakers, Nadia; Semple, Robert K.; Serra, Eva; Shihab, Hashem; Shin, So-Youn; Skuse, David; Small, Kerrin; Smee, Carol; Soler, Artigas María; Soranzo, Nicole; Southam, Lorraine; Spector, Tim; St Pourcain, Beate; St. Clair, David; Stalker, Jim; Surdulescu, Gabriela; Suvisaari, Jaana; Tachmazidou, Ioanna; Tian, Jing; Timpson, Nic; Tobin, Martin; Valdes, Ana; van Kogelenberg, Margriet; Vijayarangakannan, Parthiban; Wain, Louise; Walter, Klaudia; Wang, Jun; Ward, Kirsten; Wheeler, Ellie; Whittall, Ros; Williams, Hywel; Williamson, Kathy; Wilson, Scott G.; Wong, Kim; Whyte, Tamieka; ChangJiang, Xu; Zeggini, Eleftheria; Zhang, Feng; Zheng, Hou-Feng

    2015-01-01

    The analysis of individuals with ciliary chondrodysplasias can shed light on sensitive mechanisms controlling ciliogenesis and cell signalling that are essential to embryonic development and survival. Here we identify TCTEX1D2 mutations causing Jeune asphyxiating thoracic dystrophy with partially penetrant inheritance. Loss of TCTEX1D2 impairs retrograde intraflagellar transport (IFT) in humans and the protist Chlamydomonas, accompanied by destabilization of the retrograde IFT dynein motor. We thus define TCTEX1D2 as an integral component of the evolutionarily conserved retrograde IFT machinery. In complex with several IFT dynein light chains, it is required for correct vertebrate skeletal formation but may be functionally redundant under certain conditions. PMID:26044572

  11. Heterogeneity of nonlethal severe short-limbed dwarfism.

    PubMed

    Romeo, G; Zonana, J; Rimoin, D L; Lachman, R S; Scott, C I; Kaveggia, E G; Spranger, J W; Opitz, J M

    1977-12-01

    The Grebe syndrome is a nonlethal form of severe short-limbed dwarfism which was previously called "achondrogenesis-Brazilian or Grebe type". We have studied three patients with severe short-limbed dwarfism originally considered to have this syndrome. On re-evaluation of their clinical and radiographic features, only one of them had the typical features of the Grebe chondrodysplasia, whereas the other two appear to have clearly distinct, previously unreported skeletal dysplasias. These patients illustrate the heterogeneity that exists among the nonlethal forms of severe short-limbed dwarfism. PMID:925797

  12. The role of structural genes in the pathogenesis of osteoarthritic disorders

    PubMed Central

    Reginato, Anthony M; Olsen, Bjorn R

    2002-01-01

    Osteoarthritis (OA), one of the most common age-related chronic disorders of articular cartilage, joints, and bone tissue, represents a major public health problem. Genetic studies have identified multiple gene variations associated with an increased risk of OA. These findings suggest that there is a large genetic component to OA and that the disorder belongs in the multigenetic, multifactorial class of genetic diseases. Studies of chondrodysplasias and associated hereditary OA have provided a better understanding of the role of structural genes in the maintenance and repair of articular cartilage, in the regulation of chondrocyte proliferation and gene expression, and in the pathogenesis of OA. PMID:12453309

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

    PubMed

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

    2013-03-01

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

  14. Monistic dualism and the body electric: An ontology of disease, patient and clinician for person-centred healthcare.

    PubMed

    Pârvan, Alexandra

    2016-08-01

    Ontology is involved in medical care, because what both doctors and patients think the disease, the patient and the doctor are affects the giving and receiving of care, and hence the definition of medical care as profession. Going back to ancient philosophical views of disease as 'bounded entity' or as 'relation' (still echoed in contemporary theories and mindsets), I propose a way to think ontologically about disease that places it in necessary connection with the patient as person. Drawing on Augustine's views on disease, bodily integrity, and the human person as mind-body unit, I speak of 'monistic dualism' as the view where the unit and health of the person is continuously and personally generated by the mind's attention to and action on the body, whether the body is impaired or not. Monistic dualism is identified as the ontological position of both patients who are (or can become) healthy within illness and clinicians who are 'healthy' in their profession. It is what guides both to create what their body is in a personal state of integrity or health. This 'metaphysical body' is termed 'the body electric' in patients, and I argue that clinicians can attend properly to the diseased body by attending to patients' metaphysical body. As clinicians offer metaphysical care to themselves, employing monistic dualism to create their metaphysical body, they should not deny it to patients. Ontology cannot be part of medical care without making metaphysical care a requirement.

  15. Morphogenesis of Fusarium sp-induced tibial dyschondroplasia in chickens.

    PubMed

    Haynes, J S; Walser, M M; Lawler, E M

    1985-11-01

    Tibial dyschondroplasia was induced in female broiler chicks by the incorporation of 2% Fusarium roseum "Alaska" culture into their starter ration. Chicks were placed on this diet at one day of age and maintained until they were killed at four days or one week. Proximal tibial physes were grossly thickened into cone-shaped masses of cartilage by one week of age. Microscopically, lesions were in both ages of treated chickens and were characterized by thickening of the transitional zone which was especially prominent in the center of the growth plate. This zone was unmineralized, avascular, and contained chondrocytes which were crenated and densely eosinophilic. The cartilage matrix was pale and contained some patchy eosinophilic foci. Four growth plates with tibial dyschondroplasia and four normal growth plates from each of the four-day and one-week-old age groups were evaluated based on the following parameters: number of metaphyseal vascular sprouts, distance between the proliferative/transitional junction and the tip of the metaphyseal vascular sprouts, width of the tips of the metaphyseal sprouts, distance between tips of adjacent metaphyseal vascular sprouts, and number of perforating vessels in the proliferative zone. The distance between the proliferative/transitional junction and the metaphyseal sprout tips was greatly increased (p less than 0.01) in the affected four-day and one-week-old chickens compared to age-matched controls.(ABSTRACT TRUNCATED AT 250 WORDS)

  16. Surviving Endoplasmic Reticulum Stress Is Coupled to Altered Chondrocyte Differentiation and Function

    PubMed Central

    Cheslett, Deborah; Chan, Wilson C. W; So, Chi Leong; Melhado, Ian G; Chan, Tori W. Y; Kwan, Kin Ming; Hunziker, Ernst B; Yamada, Yoshihiko; Bateman, John F; Cheung, Kenneth M. C; Cheah, Kathryn S. E

    2007-01-01

    In protein folding and secretion disorders, activation of endoplasmic reticulum (ER) stress signaling (ERSS) protects cells, alleviating stress that would otherwise trigger apoptosis. Whether the stress-surviving cells resume normal function is not known. We studied the in vivo impact of ER stress in terminally differentiating hypertrophic chondrocytes (HCs) during endochondral bone formation. In transgenic mice expressing mutant collagen X as a consequence of a 13-base pair deletion in Col10a1 (13del), misfolded α1(X) chains accumulate in HCs and elicit ERSS. Histological and gene expression analyses showed that these chondrocytes survived ER stress, but terminal differentiation is interrupted, and endochondral bone formation is delayed, producing a chondrodysplasia phenotype. This altered differentiation involves cell-cycle re-entry, the re-expression of genes characteristic of a prehypertrophic-like state, and is cell-autonomous. Concomitantly, expression of Col10a1 and 13del mRNAs are reduced, and ER stress is alleviated. ERSS, abnormal chondrocyte differentiation, and altered growth plate architecture also occur in mice expressing mutant collagen II and aggrecan. Alteration of the differentiation program in chondrocytes expressing unfolded or misfolded proteins may be part of an adaptive response that facilitates survival and recovery from the ensuing ER stress. However, the altered differentiation disrupts the highly coordinated events of endochondral ossification culminating in chondrodysplasia. PMID:17298185

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

    PubMed

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

    2004-08-01

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

  18. Identification of PEX7 as the second gene involved in Refsum disease.

    PubMed

    van den Brink, Daan M; Brites, Pedro; Haasjes, Janet; Wierzbicki, Anthony S; Mitchell, John; Lambert-Hamill, Michelle; de Belleroche, Jacqueline; Jansen, Gerbert A; Waterham, Hans R; Wanders, Ronald J A

    2003-02-01

    Patients affected with Refsum disease (RD) have elevated levels of phytanic acid due to a deficiency of the peroxisomal enzyme phytanoyl-CoA hydroxylase (PhyH). In most patients with RD, disease-causing mutations in the PHYH gene have been identified, but, in a subset, no mutations could be found, indicating that the condition is genetically heterogeneous. Linkage analysis of a few patients diagnosed with RD, but without mutations in PHYH, suggested a second locus on chromosome 6q22-24. This region includes the PEX7 gene, which codes for the peroxin 7 receptor protein required for peroxisomal import of proteins containing a peroxisomal targeting signal type 2. Mutations in PEX7 normally cause rhizomelic chondrodysplasia punctata type 1, a severe peroxisomal disorder. Biochemical analyses of the patients with RD revealed defects not only in phytanic acid alpha-oxidation but also in plasmalogen synthesis and peroxisomal thiolase. Furthermore, we identified mutations in the PEX7 gene. Our data show that mutations in the PEX7 gene may result in a broad clinical spectrum ranging from severe rhizomelic chondrodysplasia punctata to relatively mild RD and that clinical diagnosis of conditions involving retinitis pigmentosa, ataxia, and polyneuropathy may require a full screen of peroxisomal functions.

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

    SciTech Connect

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

    1994-10-01

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

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

    PubMed

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

    2001-08-01

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

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

    PubMed

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

    2008-01-01

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

  2. Development and physical analysis of YAC contigs covering 7 Mb of Xp22.3-p22.2

    SciTech Connect

    Herrell, S.; Novo, F.J.; Charlton, R.

    1995-01-20

    A total of YAC clones have been isolated from the region of Xp22.2-p22.3 extending from the amelogenin gene locus to DXS31. Restriction analysis of these clones in association with STS contenting and end clone analysis has facilitated the construction of 6 contigs covering a total of 7 Mb in which 20 potential CpG islands have been located. Thirty new STSs have been developed from probe and YAC end clone sequences, and these have been used in the analysis of patients suffering from different combinations of chondrodysplasia punctata, mental retardation, X-linked ichthyosis, and Kallmann syndrome. The results suggest that (1) the gene for chondrodysplasia punctata must lie between the X chromosome pseudoautosomal boundary (PABX) and DXS1145; (2) a gene for mental retardation lies between DXS1145 and the sequence tagged site GS1; and (3) the gene for ocular albinism type 1 lies proximal to the STS G13. The CpG islands within the YAC contigs constitute valuable markers for the potential positions of genes. Genes found associated with any of these potential CpG islands would be possible candidates for the disease genes mentioned above. 47 refs., 3 figs., 5 tabs.

  3. Must Metaethical Realism Make a Semantic Claim?

    PubMed

    Kahane, Guy

    2013-02-01

    Mackie drew attention to the distinct semantic and metaphysical claims made by meta ethical realists, arguing that although our evaluative discourse is cognitive and objective, there are no objective evaluative facts. This distinction, however, also opens up a reverse possibility: that our evaluative discourse is antirealist, yet objective values do exist. I suggest that this seemingly far-fetched possibility merits serious attention; realism seems com mitted to its intelligibility, and, despite appearances, it isn't incoherent, ineffable, inherently implausible or impossible to defend. I argue that reflection on this possibility should lead us to revise our understanding of the debate between realists and antirealists. It is not only that the realist's semantic claim is insufficient for realism to be true, as Mackie argued; it's not even necessary. Robust metaethical realism is best understood as making a purely metaphysical claim. It is thus not enough for antirealists to show that our discourse is antirealist. They must directly attack the realist's metaphysical claim.

  4. Effects of spaceflight on trabecular bone in rats

    NASA Technical Reports Server (NTRS)

    Jee, W. S. S.; Wronski, T. J.; Morey, E. R.; Kimmel, D. B.

    1983-01-01

    Alterations in trabecular bone were observed in growing male Wistar rats after 18.5 days of orbital flight on the COSMOS 1129 biosatellite. Spaceflight induced a decreased mass of mineralized tissue and an increased fat content of the bone marrow in the proximal tibial and humeral metaphyses. The osteoblast population appeared to decline immediately adjacent to the growth cartilage-metaphyseal junction, but osteoclast numbers were unchanged. These results suggested that bone formation may have been inhibited during spaceflight, but resorption remained constant. With the exception of trabecular bone mass in the proximal tibia, the observed skeletal changes returned to normal during a 29-day postflight period.

  5. Osteopetrosis in a neonatal donkey.

    PubMed

    Williamson, A J; Stent, A W; Milne, M; Walmsley, E A

    2016-10-01

    Osteopetrosis is a rare disorder characterised by a defect in osteoclastic bone resorption. This report describes osteopetrosis in a neonatal donkey that suffered a displaced tibial fracture. Radiographic examination identified generalised reduction in medullary cavity size, thickened mid-diaphyseal cortices and conical metaphyseal bone extending toward the mid-diaphysis of long bones. Postmortem examination identified additional fractures and brittle bones. Histologically, osteoclasts were absent in multiple bone sections. Diaphyseal cortices consisted of concentric bone lamellae with marrow tissue infiltration. Large wedges of secondary spongiosa extended from the metaphyseal growth plate. Clinical and histopathological features were similar to an osteoclast-deficient, autosomal recessive form of osteopetrosis in humans. PMID:27671079

  6. Results of sleeves in revision total knee arthroplasty: an editorial comment on recently published in the Journal of Arthroplasty

    PubMed Central

    Jiang, Chao

    2015-01-01

    The paper entitled “Direct, cementless, metaphyseal fixation in knee revision arthroplasty with sleeves-short-term results” published in the Journal of Arthroplasty to analyze the short- and mid-term results in revision total knee arthroplasty (TKA) in a largest series so far. This article shown that cementless metaphyseal fixation with sleeves is a promising option for revision TKA implant fixation. The clinical outcomes regarding the range of motion and the KSS are also promising. Based on this article and related literatures about sleeves, we assess the short to mid-term outcomes and the clinical perspectives in revision TKAs. PMID:26697477

  7. Generalized enchondromatosis with unusual complications of soft tissue calcifications and hemangiomas

    SciTech Connect

    Kaibara, N.; Katsuki, I.; Hotokebuchi, T.; Takagishi, K.; Mitsuyasu, M.

    1982-03-01

    Generalized enchondromatosis is a newly delineated type of enchondromatosis. Radiographically there are multiple enchondromata in almost all metaphyses of the long and short tubular bones and the lesions are in almost the same stage of development with mild platyspondyly and skull deformity. The pelvic changes are characteristic and, together with the metaphyseal changes of the long and short tubular bones, are probably diagnostic of this disorder. The present case demonstrates advanced radiographic features of this disorder associated with unusual soft tissue calcifications and hemangiomas. The presence of hemangiomas in our case as well as three cases in the literature suggests this feature is more than a coincidence.

  8. Unusual presentation of Erdheim-Chester disease in a child with acute lymphoblastic leukemia

    PubMed Central

    Vallonthaiel, Archana George; Mridha, Asit Ranjan; Gamanagatti, Shivanand; Jana, Manisha; Sharma, Mehar Chand; Khan, Shah Alam; Bakhshi, Sameer

    2016-01-01

    Erdheim-Chester disease (ECD) is an uncommon, non-familial, non-Langerhans cell histiocytosis, which involves skeletal system and soft tissue usually in middle aged and elderly patients. The characteristic radiologic features include bilateral, symmetric cortical osteosclerosis of the diaphyseal and metaphyseal parts of the long bones, or bilateral symmetrically abnormal intense 99mTechnetium labelling of the metaphyseal-diaphyseal region of the long bones, and computed tomography scan findings of “coated aorta” or “hairy kidneys”. ECD in childhood with osteolytic lesion is extremely rare. We describe an unusual case with an expansile lytic bone lesion at presentation in a case of acute lymphoblastic leukemia.

  9. Well posedness and physical possibility

    NASA Astrophysics Data System (ADS)

    Gyenis, Balazs

    There is a sentiment shared among physicists that well posedness is a necessary condition for physical possibility. The arguments usually offered for well posedness have an epistemic flavor and thus they fall short of establishing the metaphysical claim that lack of well posedness implies physical impossibility. In this work we analyze the relationship of well posedness to prediction and confirmation as well as the notion of physical possibility and we devise three novel and independent argumentative strategies that may succeed where the usual epistemic arguments fail. Keywords: determinism, laws of nature, metaphysics, philosophy of physics, physical possibility, prediction, well posed problem.

  10. Experimental rickets in broilers: gross, microscopic, and radiographic lesions. I. Phosphorus deficiency and calcium excess.

    PubMed

    Long, P H; Lee, S R; Rowland, G N; Britton, W M

    1984-01-01

    Day-old broiler chicks were fed diets high in calcium or low in phosphorus for 30 days. Chicks in both groups had similar gross, microscopic, and radiographic lesions. At 2 weeks, the growth-plate degenerating hypertrophied zone (DHZ) and metaphyseal primary spongiosa were lengthened and decreased in radiopacity. Metaphyseal vessels extended to the growth-plate hypertrophied zone (HZ), and osteoid seams were widened. At 3 and 4 weeks, lesions were similar; however, folding fractures were common and cartilage columns of the metaphysis were thinned and replaced with increased woven bone.

  11. Unusual presentation of Erdheim-Chester disease in a child with acute lymphoblastic leukemia.

    PubMed

    Vallonthaiel, Archana George; Mridha, Asit Ranjan; Gamanagatti, Shivanand; Jana, Manisha; Sharma, Mehar Chand; Khan, Shah Alam; Bakhshi, Sameer

    2016-08-28

    Erdheim-Chester disease (ECD) is an uncommon, non-familial, non-Langerhans cell histiocytosis, which involves skeletal system and soft tissue usually in middle aged and elderly patients. The characteristic radiologic features include bilateral, symmetric cortical osteosclerosis of the diaphyseal and metaphyseal parts of the long bones, or bilateral symmetrically abnormal intense (99m)Technetium labelling of the metaphyseal-diaphyseal region of the long bones, and computed tomography scan findings of "coated aorta" or "hairy kidneys". ECD in childhood with osteolytic lesion is extremely rare. We describe an unusual case with an expansile lytic bone lesion at presentation in a case of acute lymphoblastic leukemia. PMID:27648170

  12. [The biolaw anthropological basis. A philosofical reflection of biolaw].

    PubMed

    Chávez-Fernández Postigo, José

    2015-01-01

    From a basic terminological clarification, we seek to examine briefly what can be acknowledged as the two biggest attempts of foundation in the Biolaw contemporary area, that of the Kantian tradition and that of the anthropological and metaphysical realism. Through a critical examination of the first one, we attempt to show that only from a freedom or an autonomy assumed from the anthropological and metaphysical realism, is possible to hold a Biolaw as a true impervious limit against the technological power regarding human life and human procreation. PMID:26030012

  13. Comparison of the deformation behaviour of commercially pure titanium and Ti-5Al-2.5Sn(wt.%) at 296 and 728 K

    NASA Astrophysics Data System (ADS)

    Li, H.; Mason, D. E.; Yang, Y.; Bieler, T. R.; Crimp, M. A.; Boehlert, C. J.

    2013-07-01

    The tension and tensile-creep deformation behaviours of a fully-α phase commercially pure (CP) Ti and a near-α Ti-5Al-2.5Sn(wt.%) alloy deformed in situ inside a scanning electron microscope were compared. Tensile tests were performed at 296 and 728 K, while tensile-creep tests were performed at 728 K. The yield stress of CP Ti decreased dramatically with increasing temperature. In contrast, temperature had much smaller effect on the yield stress of Ti-5Al-2.5Sn(wt.%). Electron backscattered diffraction was performed both before and after the deformation, and slip trace analysis was used to determine the active slip and twinning systems, as well as the associated global stress state Schmid factors. In tension tests of CP Ti, prismatic slip was the most likely slip system to be activated when the Schmid factor exceeded 0.4. Prismatic slip was observed over the largest Schmid factor range, indicating that the local stress tensor varies significantly from the global stress state of uniaxial tension. The basal slip activity in Ti-5Al-2.5Sn(wt.%) was observed in a larger faction of grains than in CP Ti. Pyramidal ⟨c + a⟩ slip was more prevalent in CP Ti. Although twinning was an active deformation mode in tension tests of the CP Ti, it was rare in Ti-5Al-2.5Sn(wt.%). During creep, dislocation slip was the primary apparent deformation mechanism in CP Ti, while evidence for dislocation slip was much less apparent in Ti-5Al-2.5Sn(wt.%), where grain boundary sliding was dominant. A robust statistical analysis was carried out to assess the significance of the comparative activity of the different slip systems under the variety of experimental conditions examined.

  14. Effect of crystallographic orientation on plastic deformation of single crystal nickel-base superalloys

    NASA Astrophysics Data System (ADS)

    Westbrooke, Eboni F.

    Nickel-base superalloys, with gamma/gamma' microstructure, are the primary material used in turbines for aerospace applications. The blades in the hottest region of the turbine engine are made of single crystal Ni-base superalloys. It has been shown that the critical resolved shear stress (CRSS) of these materials is orientation dependent (also known as non-Schmid effect). The purpose of this research was to investigate the plastic deformation mechanisms of single crystal Ni-base superalloys as a function of crystallographic orientation in order to understand the factors that contribute to the non-Schmid effect. The superalloys in this study possessed alloying elements in amounts which defined them as 1st and 2nd generation superalloys. Tensile samples of various orientations were loaded to different strain levels. The mechanisms of plastic deformation were characterized by optical and scanning electron microscopy (SEM) observations of deformation bands as well as the dislocation structures using transmission electron microscopy (TEM). It was confirmed that the CRSS of the single crystals did not follow Schmid's law and the near <111> specimens showed the lowest values. The degree of non-Schmid behavior in the <111> specimens was diminished by HIP'ing, which resulted in closure of solidification pores. Furthermore, it was shown that the CRSS for the <100> loaded samples was smallest when loaded along the secondary dendrite arms. The slip analysis by optical microscopy showed that the deformation bands did not follow the expected {111} slip planes for all samples. Studies in SEM proved that those slip bands that followed the {111} planes were associated with extensive shearing of gamma' particles. In addition, it was found that the presence of tri-axial stress states within the macrostructure influenced the deformation path significantly. The TEM observations of deformed specimens revealed that plastic deformation took place mainly in the gamma channels in specimens

  15. Taxonomy of Atopsyche Banks (Trichoptera: Hydrobiosidae) from Brazil: New species, distributional notes and identification key.

    PubMed

    Gomes, Victor; Calor, Adolfo Ricardo

    2016-01-01

    Three new species of Atopsyche Banks 1905 are described and illustrated from Brazil: Atopsyche diamantina n. sp., A. kamakan n. sp., and A. muelleri n. sp. New records of A. apurimac Schmid 1989, A. sanctipauli Flint 1974, A. serica Ross 1953, and A. zernyi Flint 1974 are included, as well as the first records to states of Bahia, Goiás, and Rio Grande do Sul. Atopsche rinconi Holzenthal & Cressa 2002 is recorded from Brazil for the first time. An identification key is also provided for species of the genus from Brazil. Moreover additional characters and illustrations of A. sanctipauli and A. zernyi are presented. PMID:27470785

  16. Dislocation motion and instability

    NASA Astrophysics Data System (ADS)

    Zhu, Yichao; Chapman, Stephen Jonathan; Acharya, Amit

    2013-08-01

    The Peach-Koehler expression for the stress generated by a single (non-planar) curvilinear dislocation is evaluated to calculate the dislocation self stress. This is combined with a law of motion to give the self-induced motion of a general dislocation curve. A stability analysis of a rectilinear, uniformly translating dislocation is then performed. The dislocation is found to be susceptible to a helical instability, with the maximum growth rate occurring when the dislocation is almost, but not exactly, pure screw. The non-linear evolution of the instability is determined numerically, and implications for slip band formation and non-Schmid behavior in yielding are discussed.

  17. Origin of stress gradients induced in capped, copper metallization

    SciTech Connect

    Murray, Conal E.

    2014-02-24

    Stress gradients generated near the top surface of Cu thin films by capping layers, as measured using a combination of conventional and glancing incidence x-ray diffraction, exhibit heterogeneous behavior that is directly related to plastic anisotropy within the Cu grains. A comparison of stress gradients measured from several x-ray reflections to their corresponding Schmid factors yields a consistent, critical resolved shear stress. The results experimentally verify that dislocation-mediated plasticity is responsible for the creation of stress gradients at the Cu film/cap interface. Depth-dependent measurements reveal that the observed gradients are localized to within 200 nm of this interface.

  18. Parapsyche species (Trichoptera: Hydropsychidae: Arctopsychinae) of western North America.

    PubMed

    Givens, Donald R

    2015-12-14

    The adult female, pupa, and larva of the 5 western North American species of the arctopsychine genus Parapsyche-P. almota Ross 1938, P. elsis Milne 1936, P. extensa Denning 1949a, P. spinata Denning 1949b, and P. turbinata Schmid 1968-are reviewed. The female and larva of P. extensa are described for the first time. The larvae of P. spinata and P. turbinata are described for the first time. The chaetotaxy of the larval forms of western North American Parapsyche is discussed and scanning electron micrographs are presented. Keys to the females, known pupae, and larvae are provided. Distributional and biological data are also included.

  19. Parapsyche species (Trichoptera: Hydropsychidae: Arctopsychinae) of western North America.

    PubMed

    Givens, Donald R

    2015-01-01

    The adult female, pupa, and larva of the 5 western North American species of the arctopsychine genus Parapsyche-P. almota Ross 1938, P. elsis Milne 1936, P. extensa Denning 1949a, P. spinata Denning 1949b, and P. turbinata Schmid 1968-are reviewed. The female and larva of P. extensa are described for the first time. The larvae of P. spinata and P. turbinata are described for the first time. The chaetotaxy of the larval forms of western North American Parapsyche is discussed and scanning electron micrographs are presented. Keys to the females, known pupae, and larvae are provided. Distributional and biological data are also included. PMID:26701494

  20. Distinguishing Science from Philosophy: A Critical Assessment of Thomas Nagel's Recommendation for Public Education

    ERIC Educational Resources Information Center

    Lammey, Melissa

    2012-01-01

    The purpose of this dissertation is to argue that while a discussion of the nature of human knowledge might be a worthy goal to pursue in public education, the science classroom is not the appropriate place for this discussion. The concern that no claims to knowledge--including scientific claims--are void of a metaphysical and epistemological…

  1. Dualistic Thinking Underlying Students' Understanding of Quantum Physics.

    ERIC Educational Resources Information Center

    Mashhadi, Azam; Woolnough, Brian

    Philosophical analysis indicates that underlying much of the Western scientific world view is the metaphysical presupposition of duality, the claim being made that the world is made sense of in terms of either/or and in terms of polarities (e.g., light versus dark). By way of contrast, no concept is more important in Asian philosophical and…

  2. Secular and religious: the intrinsic doubleness of analytical psychology and the hegemony of naturalism in the social sciences.

    PubMed

    Main, Roderick

    2013-06-01

    In recent years a number of prominent social theorists, including Jürgen Habermas and Charles Taylor, have voiced concern about the hegemony of naturalistic, secular assumptions in the social sciences, and in their different ways have sought to address this by establishing greater parity between secular and religious perspectives. This paper suggests that C.G. Jung's analytical psychology, which hitherto has been largely ignored by social theory, may have something to contribute on this issue as it can be understood coherently both empirically, without reference to transcendent reality, and metaphysically, with reference to transcendent reality. It is argued that, despite his denials of any metaphysical intent, Jung does in fact engage in metaphysics and that together the empirical and metaphysical vectors of his thought result in a rich and distinctive double perspective. This dual secular and religious perspective can be seen as part of Jung's own critique of the hegemony of naturalism and secularism, which for Jung has profound social as well as clinical relevance. The concern and approach that Habermas and Taylor share with Jung on this issue may provide some grounds for increased dialogue between analytical psychology and the social sciences.

  3. Education, Religion, and a Sustainable Planet

    ERIC Educational Resources Information Center

    Vandenberg, Donald

    2008-01-01

    Religious pluralism led to the colonies' separation of church and state by 1776, to Mann's campaign for common schooling, and to the complete secularization of public schools by 1900. The dependence of Western theology upon untenable Greek metaphysics justifies an explanation that the evolutionary purpose of religion was to promote personal…

  4. Is the World Local or Nonlocal? Towards an Emergent Quantum Mechanics in the 21st Century

    NASA Astrophysics Data System (ADS)

    Walleczek, Jan; Grössing, Gerhard

    2016-03-01

    What defines an emergent quantum mechanics (EmQM)? Can new insight be advanced into the nature of quantum nonlocality by seeking new links between quantum and emergent phenomena as described by self-organization, complexity, or emergence theory? Could the development of a future EmQM lead to a unified, relational image of the cosmos? One key motivation for adopting the concept of emergence in relation to quantum theory concerns the persistent failure in standard physics to unify the two pillars in the foundations of physics: quantum theory and general relativity theory (GRT). The total contradiction in the foundational, metaphysical assumptions that define orthodox quantum theory versus GRT might render inter-theoretic unification impossible. On the one hand, indeterminism and non-causality define orthodox quantum mechanics, and, on the other hand, GRT is governed by causality and determinism. How could these two metaphysically-contradictory theories ever be reconciled? The present work argues that metaphysical contradiction necessarily implies physical contradiction. The contradictions are essentially responsible also for the measurement problem in quantum mechanics. A common foundation may be needed for overcoming the contradictions between the two foundational theories. The concept of emergence, and the development of an EmQM, might help advance a common foundation - physical and metaphysical - as required for successfull inter-theory unification.

  5. The 1923 Scientistic Campaign and Dao-Discourse: A Cross-Cultural Study of the Rhetoric of Science

    ERIC Educational Resources Information Center

    Xiao, Xiaosui

    2004-01-01

    In 1923 the emerging Chinese advocates for the development of science successfully launched a war against the so-called "metaphysical ghosts," who believed that science was inadequate to address the fundamental questions of human life. An important and far-reaching spiritual effect of this "holy war" was to give rise to an attitude of religious…

  6. MACOS/SEMP Debate in Queensland, 1978: Some Central Issues.

    ERIC Educational Resources Information Center

    Duhs, L. A.

    1979-01-01

    Citing Dewey and Plato, the author presents a metaphysical and a political analysis of the Queensland Government's banning of two social studies programs: Man: A Course of Study and the Social Education Materials Project. Arguments of both the programs' attackers and defenders are critiqued. (SJL)

  7. Grist to the Mill of Anti-Evolutionism: The Failed Strategy of Ruling the Supernatural out of Science by Philosophical Fiat

    ERIC Educational Resources Information Center

    Boudry, Maarten; Blancke, Stefaan; Braeckman, Johan

    2012-01-01

    According to a widespread philosophical opinion, science is strictly limited to investigating natural causes and putting forth natural explanations. Lacking the tools to evaluate supernatural claims, science must remain studiously neutral on questions of metaphysics. This (self-imposed) stricture, which goes under the name of "methodological…

  8. The Art of Self-Reflection

    ERIC Educational Resources Information Center

    Villano, Matt

    2006-01-01

    Metaphysically speaking, the idea of self-reflection has been the subject of discussion for thousands of years. The idea carried human beings through the Renaissance, and an entire movement tied to it sparked a sociopolitical movement called the Enlightenment. In more recent times, thought leaders such as Immanuel Kant, Karl Marx, and Sigmund…

  9. Is Nature Immaterial? The Possibilities for Environmental Education without an Environment

    ERIC Educational Resources Information Center

    Stables, Andrew

    2007-01-01

    Contemporary thinking is generally based on substance, as opposed to process, metaphysics: in other words, the belief that the world and the universe are best understood in terms of material rather than events. The environment, for example, is conceived of as substantial; nature as a web of interconnected, if often fragile entities. In this…

  10. Acknowledging the Religious Beliefs Students Bring into the Science Classroom: Using the Bounded Nature of Science

    ERIC Educational Resources Information Center

    Southerland, Sherry A.; Scharmann, Lawrence C.

    2013-01-01

    Scientific knowledge often appears to contradict many students' religious beliefs. Indeed, the assumptions of science appear contradictory to the metaphysical claims of many religions. This conflict is most evident in discussions of biological evolution. Teachers, in attempts to limit the controversy, often avoid this topic or teach it…

  11. The Afrocentric Paradigm: Contours and Definitions.

    ERIC Educational Resources Information Center

    Mazama, Ama

    2001-01-01

    Defines and describes Afrocentricity, suggesting that Afrocentricity within the academic context is best understood as a paradigm. Explains how Afrocentricity meets the definition of a paradigm, examining the affective, cognitive, and conative aspects of the Afrocentric paradigm (metaphysical and sociological) and looking at the structural and…

  12. Alienated Labor and the Quality of Teachers' Lives: How Teachers in Low-Performing Schools Experience Their Work.

    ERIC Educational Resources Information Center

    Kesson, Kathleen

    This paper focuses on how teachers in city schools are experiencing the labor process. It summarizes the concept of alienation, beginning with Hegel's metaphysical teleology, which was overturned by Feuerback and found its historical materialist expression in Marx's theory of alienated labor. The paper then revisits some of the work of critical…

  13. Normalizing Catastrophe: Sustainability and Scientism

    ERIC Educational Resources Information Center

    Bonnett, Michael

    2013-01-01

    Making an adequate response to our deteriorating environmental situation is a matter of ever increasing urgency. It is argued that a central obstacle to achieving this is the way that scientism has become normalized in our thinking about environmental issues. This is taken to reflect on an underlying "metaphysics of mastery" that vitiates proper…

  14. What is Plato? Inference and Allusion in Plato's "Sophist."

    ERIC Educational Resources Information Center

    Quandahl, Ellen

    1989-01-01

    Discusses inference and allusion in the dialogue in Plato's Sophist. Examines the sense in which a locution is used, distinguishing among senses of the verb to be, and sets the ball rolling for the development of logic and the whole metaphysics of categories of being. (RAE)

  15. National College Physical Education Association for Men. Proceedings of Annual Meeting (76th, Pittsburgh, Pennsylvania, January 6-9, 1973).

    ERIC Educational Resources Information Center

    Mueller, C. E., Ed.

    In addition to the presidential address and the general session address ("Aesthesis and Kinesthesis: Meditations on Metaphysical Education: or, Graffiti in the Gameroom"), the proceedings contain speeches on the following topics: (1) intercollegiate athletics, (2) the history of sport, (3) teacher education, (4) basic instruction, (5) intramural…

  16. Relating to Nature: Deep Ecology or Ecofeminism?

    ERIC Educational Resources Information Center

    Mathews, Freya

    1994-01-01

    This essay begins with an examination of the metaphysical axioms of deep ecology. It is argued that the axioms generate a fundamental dilemma for deep ecologists and that in attempting to resolve this dilemma, it is necessary to draw on an ethical perspective more akin to that found in ecofeminist literature. (LZ)

  17. Witnessing Deconstruction in Education: Why Quasi-Transcendentalism Matters

    ERIC Educational Resources Information Center

    Biesta, Gert

    2009-01-01

    Deconstruction is often depicted as a method of critical analysis aimed at exposing unquestioned metaphysical assumptions and internal contradictions in philosophical and literary language. Starting from Derrida's contention that deconstruction is not a method and cannot be transformed into one, I make a case for a different attitude towards…

  18. Music Education in the Sign of Deconstruction

    ERIC Educational Resources Information Center

    Dyndahl, Petter

    2008-01-01

    In this article, the aim is to address different forms of relationship between deconstruction, as coined by Jacques Derrida, and research perspectives on music education. Deconstruction represents a radical departure from Western ontology from Plato onward and its essentialistic notions of the metaphysics of presence. Instead, Derrida claims that…

  19. J. Hillis Miller's Virtual Reality of Reading

    ERIC Educational Resources Information Center

    Fosso, Kurt; Harp, Jerry

    2012-01-01

    We set out to investigate Miller's curious assertion--curious for a deconstructionist committed to a critique of the old metaphysics of presence--that literary works preexist their being written down. We find a basis for this sense of the preexistence of the literary work in Miller's insights about the performative dynamics of reading and writing.…

  20. Social Theory, and Music and Music Education as Praxis

    ERIC Educational Resources Information Center

    Regelski, Thomas A.

    2004-01-01

    The idea of praxis, and thus the idea of music as praxis, is not widely known in the fields of music and music education. Nonetheless, musicians and music teachers typically take for granted as sacrosanct the noble sounding, metaphysical, even spiritual profundity of music hypothesized by mainstream aesthetic philosophies. Thus accounts of music…

  1. Neoliberal Ideology and Democratic Learning. A Response to "Challenging Freedom: Neoliberalism and the Erosion of Democratic Education"

    ERIC Educational Resources Information Center

    Hyslop-Margison, Emery James; Ramirez, Andres

    2016-01-01

    In "Challenging Freedom: Neoliberalism and the Erosion of Democratic Education," the author suggests that the presumed decline of democratic learning in public schooling follows from two primary forces: (a) the metaphysical implications of Cartesian psychophysical dualism that support an ontological understanding of the self as distinct…

  2. A Category Mistake: Why Contemporary Australian Religious Education in Catholic Schools May Be Doomed to Failure

    ERIC Educational Resources Information Center

    Hyde, Brendan

    2013-01-01

    Assuming religious education to be the same as other subject areas of a Catholic school's curriculum by, for example, applying the outcomes based philosophy and language of other subject areas to religious education renders a category mistake. A prominent notion in the work of metaphysical philosopher Gilbert Ryle, a category mistake arises when…

  3. Chiasmus as a Stylistic Device in Donne's and Vaughan's Poetry

    ERIC Educational Resources Information Center

    I'jam, Dunya Muhammad Miqdad; Fadhil, Zahraa Adnan

    2016-01-01

    This study investigates chiasmus as a stylistic device in ten metaphysical poems (five for John Donne and five for Henry Vaughan). It aims at showing how both, Donne and Vaughan, utilize chiasmus at the different linguistic levels as a stylistic device in their poetry. Thus, to achieve this aim, it is hypothesized that chiasmus as used by Donne…

  4. Thinking Resources for Educational Research Methods and Methodology

    ERIC Educational Resources Information Center

    Peim, Nick

    2009-01-01

    This paper considers the idea of a crisis in educational research. Some conventional expressions of that "crisis" are examined in terms of their assumptions about what is "proper" to educational research. The paper then affirms the role of "metaphysics" in educational research as a necessary dimension of method, as opposed to the naive assertion…

  5. Shakespeare and the Students.

    ERIC Educational Resources Information Center

    Enright, D. J.

    Departing from the tendency to dwell extensively on the symbolism in Shakespeare's plays and to see the works as metaphysical formulations, studies in this book focus on his work as "plays about people"--their reactions as real people to possible situations. Four plays are examined, scene by scene: (1) "King Lear" and the Just Gods; (2) "Antony…

  6. William James's Moral Theory

    ERIC Educational Resources Information Center

    Cooper, Wesley

    2003-01-01

    James's moral theory, primarily as set out in "The Moral Philosopher and the Moral Life" (in his "The Will To Believe" (1897)), is presented here as having a two-level structure, an empirical or historical level where progress toward greater moral inclusiveness is central, and a metaphysical or end-of-history level--James's "kingdom of…

  7. The Spy Story as Modern Tragedy

    ERIC Educational Resources Information Center

    Snyder, John R.

    1977-01-01

    Supplements the idea of the realistic spy story as reflector of modern problems with a theory of its meaning or a "metaphysics" of the genre. Available from: Thomas L. Erskine, Co-Editor; Literature/Film Quarterly, Salisbury State College, Salisbury, Maryland 21801, Subscription Rates: individuals, $6.00; students, $5.00; single copies, $2.00. (MH)

  8. A Case Study of Conceptual Change in Special Relativity: The Influence of Prior Knowledge in Learning.

    ERIC Educational Resources Information Center

    Hewson, Peter W.

    1982-01-01

    Results of a case study (one graduate physics tutor) demonstrate that a person's conceptions, which include metaphysical commitments, play a significant role in the way s/he understands complex subject matter such as Einstein's Special Theory of Relativity. (Author/SK)

  9. Counter-Colonial and Philosophical Claims: An Indigenous Observation of Western Philosophy

    ERIC Educational Resources Information Center

    Mika, Carl

    2015-01-01

    Providing an indigenous opinion on anything is a difficult task. To be sure, there is a multitude of possible indigenous responses to dominant Western philosophy. My aim in this paper is to assess dominant analytic Western philosophy in light of the general insistence of most indigenous authors that indigenous metaphysics is holistic, and to make…

  10. Basil Yeaxlee and Lifelong Education: Caught in Time.

    ERIC Educational Resources Information Center

    Cross-Durant, Angela

    1984-01-01

    Basil Yeaxlee believed in the examination of life as the foundation for all learning, in a Christian context. The question of meanings, the purpose of life, and their relationship to education, as well as lifelong learning as a metaphysical quest, are the foundations of his philosophy. (SK)

  11. The Weberian Legacy of Thom Greenfield.

    ERIC Educational Resources Information Center

    Samier, Eugenie

    1996-01-01

    Traces through Thomas Greenfield's work his use of Max Weber's interpretive social analysis, including Weber's view of the individual unit of analysis, value topologies, comparative history methods, and analytical ideal topologies. Compares Greenfield's and Weber's metaphysical assumptions, ontological perspectives, and epistemological frameworks.…

  12. Management of Giant Cell Tumour Radius in a Three Year old Child with an Improvised Technique

    PubMed Central

    Puri, Ajay; Gulia, Ashish; Sharma, Seema; Verma, Amit K

    2014-01-01

    Giant cell tumours of immature skeleton have a very low incidence and epi-metaphyseal location. We are presenting giant cell tumour distal radius in a skeletally immature patient; an uncontained defect with a large soft tissue component which was managed by wide excision and reconstruction with an improvised technique. PMID:25654002

  13. Taking Science Seriously in the Debate on Death and Organ Transplantation.

    PubMed

    Nair-Collins, Michael

    2015-01-01

    The effort to develop international guidelines for determination of death purports to start with an objective examination of the biology of death. So far, however, it is showing once again how moral and metaphysical claims about death masquerade as scientific facts. PMID:26081017

  14. The Border Pedagogy Revisited

    ERIC Educational Resources Information Center

    Kazanjian, Christopher John

    2011-01-01

    Border pedagogy is a multicultural educational approach utilized in multicultural settings to help students understand their histories and experiences and how it affects their identities and cultures. The approach seeks to produce intellectuals that transcend physical and metaphysical boundaries. The goal of border pedagogy is to remove cultural…

  15. The Concept of Philosophical Education

    ERIC Educational Resources Information Center

    Boyum, Steinar

    2010-01-01

    Strangely, the concept of philosophical education is not much in use, at least not as a "philosophical" concept. In this essay, Steinar Boyum attempts to outline such a philosophical concept of philosophical education. Boyum uses Plato's Allegory of the Cave, Rene Descartes's life of doubt, and Immanuel Kant's criticism of metaphysics as paradigms…

  16. Chrysalis

    ERIC Educational Resources Information Center

    Marsh, John

    1977-01-01

    In an outpouring of metaphysical anguish, Adrian Redman exhorts his companion, his own pilgrim self, and an uncompassionate society to forego the dichotomy of creativity/conformity--the necessity of absolute choice--in favor of spontaneity, freedom, and joy in the unique development of each individual from a (metaphorical) pupa to a butterfly.…

  17. Heidegger and Nietzsche; the Question of Value and Nihilism in Relation to Education.

    ERIC Educational Resources Information Center

    Irwin, Ruth

    2003-01-01

    This paper is a philosophical analysis of Heidegger and Nietzsche's approach to metaphysics and the associated problems of nihilism. Discusses the two philosophers offer a critique of Humanism while upholding education as the wellspring of values in society. Concludes that ethical evaluation of new forms of knowledge is crucial to human…

  18. Exploring Values and Personal and Social Development: Learning through Expeditions

    ERIC Educational Resources Information Center

    Allison, Peter; Von Wald, Kris

    2010-01-01

    Travel and overseas experiences, particularly those involving some form of outdoor education, are regarded by many young people, parents, university admissions and employers as somehow beneficial to a young person's development. Often, expedition experiences are happening at crucial times in life (the teen years) when metaphysical (rather than…

  19. The Three Planes of Language.

    ERIC Educational Resources Information Center

    Sampson, Gloria

    1999-01-01

    Currently, the language sciences place together four different forms of mental activity on one plane of language, which results in confusion. This paper presents arguments from metaphysics, hermeneutics, and semiotics to demonstrate that there are actually three planes of language (a biologically-based information processing plane, a literal…

  20. Learning about Learning: A Conundrum and a Possible Resolution

    ERIC Educational Resources Information Center

    Barnett, Ronald

    2011-01-01

    What is it to learn in the modern world? We can identify four "learning epochs" through which our understanding of learning has passed: a metaphysical view; an empirical view; an experiential view; and, currently, a "learning-amid-contestation" view. In this last and current view, learning has its place in a world in which, the more one learns,…

  1. Metasemantics: On the Limits of Semantic Theory

    ERIC Educational Resources Information Center

    Parent, T.

    2009-01-01

    METASEMANTICS is a wake-up call for semantic theory: It reveals that some semantic questions have no adequate answer. (This is meant to be the "epistemic" point that certain semantic questions cannot be "settled"--not a metaphysical point about whether there is a fact-of-the-matter.) METASEMANTICS thus checks our default "optimism" that any…

  2. Traumatic proximal tibiofibular dislocation.

    PubMed

    Burgos, J; Alvarez-Montero, R; Gonzalez-Herranz, P; Rapariz, J M

    1997-01-01

    Proximal tibiofibular dislocation is an exceptional lesion. Rarer still is its presentation in childhood. We describe the clinical case of a 6-year-old boy, the victim of a road accident. He had a tibiofibular dislocation associated with a metaphyseal fracture of the tibia.

  3. Prospects for Appropriate Technology: Clues from the Philosophy of E. F. Schumacher.

    ERIC Educational Resources Information Center

    Willoughby, Kelvin

    1985-01-01

    Discusses the role of technology in environmental affairs. The background of the appropriate technology movement and an analysis of its practicability and viability are provided. Five metaphysical propositions are reviewed and the importance of meta-technological factors is emphasized. (ML)

  4. A zygote could be a human: a defence of conceptionism against fission arguments.

    PubMed

    Curtis, Benjamin L

    2012-03-01

    In this paper I defend the view that a zygote is a human from the fission objection that is widely thought to be decisive against the view. I do so, drawing upon a recent discussion of this issue by John Burgess, by explaining in detail the metaphysical position the proponent of the view should adopt in order to rebut the objection.

  5. Morphological Study of the Newly Designed Cementless Femoral Stem

    PubMed Central

    Baharuddin, Mohd Yusof; Salleh, Sh-Hussain; Zulkifly, Ahmad Hafiz; Lee, Muhammad Hisyam; Mohd Noor, Alias

    2014-01-01

    A morphology study was essential to the development of the cementless femoral stem because accurate dimensions for both the periosteal and endosteal canal ensure primary fixation stability for the stem, bone interface, and prevent stress shielding at the calcar region. This paper focused on a three-dimensional femoral model for Asian patients that applied preoperative planning and femoral stem design. We measured various femoral parameters such as the femoral head offset, collodiaphyseal angle, bowing angle, anteversion, and medullary canal diameters from the osteotomy level to 150 mm below the osteotomy level to determine the position of the isthmus. Other indices and ratios for the endosteal canal, metaphyseal, and flares were computed and examined. The results showed that Asian femurs are smaller than Western femurs, except in the metaphyseal region. The canal flare index (CFI) was poorly correlated (r < 0.50) to the metaphyseal canal flare index (MCFI), but correlated well (r = 0.66) with the corticomedullary index (CMI). The diversity of the femoral size, particularly in the metaphyseal region, allows for proper femoral stem design for Asian patients, improves osseointegration, and prolongs the life of the implant. PMID:25025068

  6. [Dreams in ancient Hebrew sources].

    PubMed

    Kottek, Samuel S

    2009-01-01

    As in many cultures dreams are, in Hebrew sources, the object of numerous questions where are dreams from? Which is their function? Are they a physical or metaphysical phenomenon? The article analyzes the topic of nature of dreams in the Bible, with a particolar attention devoted to the Joseph's history. Talmudic text are, in particular, rich in references.

  7. Incarnation: Radicalizing Embodiment of Mathematics

    ERIC Educational Resources Information Center

    Roth, Wolff-Michael

    2010-01-01

    As the end result of metaphysics, the Kantian and constructivist mind is not present in the world but withdrawn into the netherworld of its representations and constructions. First phenomenology then the embodied cognition research showed how there could be no cognition without the human body. There is something unsatisfying and lacking, however,…

  8. Transformative Mixed Methods Research

    ERIC Educational Resources Information Center

    Mertens, Donna M.

    2010-01-01

    Paradigms serve as metaphysical frameworks that guide researchers in the identification and clarification of their beliefs with regard to ethics, reality, knowledge, and methodology. The transformative paradigm is explained and illustrated as a framework for researchers who place a priority on social justice and the furtherance of human rights.…

  9. Aristotle of Stagira (384-322 BC)

    NASA Astrophysics Data System (ADS)

    Murdin, P.

    2001-07-01

    Aristotle was a Greek philosopher and scientist, born in Stagira. Aristotle's lectures were compiled into 150 volumes, including Physics, Metaphysics and De Caelo et Mundo (On the Heavens and Earth), in which he accepted the heavenly spheres of eudoxus, thought the Earth to be spherical and imagined a perfectly spherical, unchanging universe of spheres centred on the Earth and carrying the planets...

  10. Darwinian Liberal Education

    ERIC Educational Resources Information Center

    Arnhart, Larry

    2006-01-01

    Be it metaphysics, theology, or some other unifying framework, humans have long sought to determine "first principles" underlying knowledge. Larry Arnhart continues in this vein, positing a Darwinian web of genetic, cultural, and cognitive evolution to explain our social behavior in terms of human nature as governed by biology. He leaves it to us…

  11. Shaking Religious Education: A New Look at the Literature

    ERIC Educational Resources Information Center

    Kameniar, Barbara

    2007-01-01

    This article offers an analysis of religious education practice through the literature that informs it. It engages Derrida's critique of the "metaphysics of presence" (1982a) to develop a theoretical framework for a new look at the ways in which different approaches to religious education represent religion and racial difference. The article…

  12. Consciousness in the Study of Human Life and Experience: "Higher Aspects" and Their Nature

    ERIC Educational Resources Information Center

    Witz, Klaus G.; Lee, Hyunju; Huang, Wanju

    2010-01-01

    This article deals with the consciousness in a person when one tries to understand her more deeply and as a whole, as is done in studies using the "Participant as Ally-Essentialist Portraiture" approach, and focuses on "higher aspects" or moral-ethical, metaphysical, social and religious ideals, values, commitments, or inspiration in a person. The…

  13. Future Technoscientific Education: Atheism and Ethics in a Globalizing World

    ERIC Educational Resources Information Center

    Pearce, Colin D.

    2011-01-01

    This article attempts to assess the claim that the unum necessarium in our time is the general dissemination of scientific knowledge because liberal civilization or the "good society" cannot be had in the presence of traditional religion and "metaphysics." The paper attempts to place this claim in the context of continuing globalization and…

  14. Language, Empathy, Archetype: Action-Metaphors of the Transcendental in Musical Experience

    ERIC Educational Resources Information Center

    Winter, Richard

    2013-01-01

    This paper proposes a theory to explain the remarkable emotional power of our response to abstract music. It reviews and rejects metaphysical arguments derived from notions of a divine spiritual realm and from absolute forms of human reason. Its conclusion is that musical experience is always essentially inter-subjective and potentially…

  15. The Individualist? The Autonomy of Reason in Kant's Philosophy and Educational Views

    ERIC Educational Resources Information Center

    Jackson, Liz

    2007-01-01

    Immanuel Kant is often viewed by educational theorists as an individualist, who put education on "an individual track," paving the way for political liberal conceptions of education such as that of John Rawls. One can easily find evidence for such a view, in "Answer to the Question: "What is Enlightenment?"," as well as in his more metaphysical,…

  16. Children's Gestures and the Embodied Knowledge of Geometry

    ERIC Educational Resources Information Center

    Kim, Mijung; Roth, Wolff-Michael; Thom, Jennifer

    2011-01-01

    There is mounting research evidence that contests the metaphysical perspective of knowing as mental process detached from the physical world. Yet education, especially in its teaching and learning practices, continues to treat knowledge as something that is necessarily and solely expressed in ideal verbal form. This study is part of a funded…

  17. Ethics: The Failure of Positivist Science.

    ERIC Educational Resources Information Center

    Lincoln, Yvonna S.; Guba, Egon G.

    1989-01-01

    The metaphysical assumptions undergirding conventional (positivist) approaches to research in the social sciences provide a warrant both for deceptive research and for objectifying human research participants. The present status of ethical guidelines for inquiry are reviewed. Special ethical problems typical of naturalistic inquiry are outlined.…

  18. Taking Science Seriously in the Debate on Death and Organ Transplantation.

    PubMed

    Nair-Collins, Michael

    2015-01-01

    The effort to develop international guidelines for determination of death purports to start with an objective examination of the biology of death. So far, however, it is showing once again how moral and metaphysical claims about death masquerade as scientific facts.

  19. The Philosophical Roots of Lifelong Learning.

    ERIC Educational Resources Information Center

    Lewis, Rosa B.

    The philosophical roots of the concept of lifelong learning are considered in relation to the views of Socrates, Plato, and Aristotle. They pioneered in their analyses of intellectual development and in the importance of the use of the mind throughout the life span. Plato and Aristotle added metaphysical arguments to support their systems of…

  20. Encyclopedia as Textbook

    ERIC Educational Resources Information Center

    Pallo, Gabor

    2006-01-01

    Textbooks and encyclopedias represent different genres of scientific literature. Textbooks help the students to prepare for their examinations in various subjects taught at schools, such as logic, metaphysic, chemistry. In the 17th Century some Calvinist professors, mostly in Germany, thought that a universal wholeness should be taught for the…

  1. Osteochondromas in fibrodysplasia ossificans progressiva: a widespread trait with a streaking but overlooked appearance when arising at femoral bone end.

    PubMed

    Morales-Piga, A; Bachiller-Corral, J; González-Herranz, P; Medrano-SanIldelfonso, M; Olmedo-Garzón, J; Sánchez-Duffhues, G

    2015-10-01

    Metaphyseal bony outgrowths are a well-recognized feature of fibrodysplasia ossificans progressiva (FOP) phenotype, but its genuine frequency, topographic distribution, morphological aspect, and potential implications are not fully established. To better ascertain the frequency and characteristics of osteocartilaginous exostoses in FOP disease, we conducted a cross-sectional radiological study based on all the traceable cases identified in a previous comprehensive national research. Metaphyseal exostoses were present in all the 17 cases of FOP studied. Although most often arising from the distal femoral (where metaphyseal exostoses adopt a peculiar not yet reported appearance) and proximal tibial bones, we have found that they are not restricted to these areas, but rather can be seen scattered at a variety of other skeletal sites. Using nuclear magnetic resonance imaging, we show that these exophytic outgrowths are true osteochondromas. As a whole, these results are in agreement with data coming from the literature review. Our study confirms the presence of metaphyseal osteochondromas as a very frequent trait of FOP phenotype and an outstanding feature of its anomalous skeletal developmental component. In line with recent evidences, this might imply that dysregulation of BMP signaling, in addition to promoting exuberant heterotopic ossification, could induce aberrant chondrogenesis and osteochondroma formation. Unveiling the molecular links between these physiopathological pathways could help to illuminate the mechanisms that govern bone morphogenesis. PMID:26049728

  2. Encountering Complexity: Native Musics in the Curriculum.

    ERIC Educational Resources Information Center

    Boyea, Andrea

    1999-01-01

    Describes Native American musics, focusing on issues such as music and the experience of time, metaphor and metaphorical aspects, and spirituality and sounds from nature. Discusses Native American metaphysics and its reflection in the musics. States that an effective curriculum would provide a new receptivity to Native American musics. (CMK)

  3. The Constructs of Wisdom in Human Development and Consciousness.

    ERIC Educational Resources Information Center

    Prewitt, Vana R.

    Classical and contemporary research studies were examined to develop a definition of wisdom and explore its constructs in human development and consciousness. First, wisdom was defined as an emergent characteristic of mature adults that is built upon intelligence, experience, and reflection and includes metaphysical and cognitive components.…

  4. Kazakh Philosophy: From Abai to Shakarim

    ERIC Educational Resources Information Center

    Sydykov, Yerlan B.; Nysanbayev, Abdumalik N.; Kurmanbaev, Erbol A.

    2016-01-01

    The purpose of the study is to analyze the influence of Shakarim--a follower of Abai--on Kazakh philosophy, his worldview and opinion of existential issues. The specifics of the problem under consideration required taking a synthetic approach to the use of various methods in this research. A synthesis of dialectical, metaphysical, rational,…

  5. On the Origins, Stages and Prospects of the Kazakh Philosophy

    ERIC Educational Resources Information Center

    Sydykov, Yerlan B.; Nysanbaev, Abdumalik N.; Tuleshov, Valikhan T.

    2016-01-01

    Perception of a single chain of the Kazakh history as the history of their ethnic consciousness and self-awareness, and not as a history of the events or stories of artefacts presents the most important political task, which could be solved only through the metaphysical, philosophical synthesis of views from the primitive to modern times. The…

  6. Weird Reality, Aesthetics, and Vitality in Education

    ERIC Educational Resources Information Center

    Oral, Sevket Benhur

    2015-01-01

    This paper discusses the repercussions of a new metaphysics--speculative/weird realism--for education and pedagogy. A historic shift is taking place in present-day continental philosophy, which involves an explicit and renewed call for "realism." One of the most salient features of this development is a revitalised interest in…

  7. The Inner (and Unavoidable?) Violence of Reason: Re-Reading Heidegger via Education

    ERIC Educational Resources Information Center

    d'Agnese, Vasco

    2015-01-01

    Since Plato, Western thought has framed knowing as a method within "some realm of what is" and a predetermined "sphere of objects". The roots and the consequences of this stance towards reason and truth were noted by Heidegger, who equates the history of Western thought with the history of metaphysics. Since Plato, truth has…

  8. Sacramental and spiritual use of hallucinogenic drugs.

    PubMed

    Móró, Levente; Noreika, Valdas

    2011-12-01

    Arguably, the religious use of hallucinogenic drugs stems from a human search of metaphysical insight rather than from a direct need for cognitive, emotional, social, physical, or sexual improvement. Therefore, the sacramental and spiritual intake of hallucinogenic drugs goes so far beyond other biopsychosocial functions that it deserves its own category in the drug instrumentalization list.

  9. Jacques Maritain's Philosophy of History and Philosophy of Education: A Relationship Secured Through Experience and Reason.

    ERIC Educational Resources Information Center

    D'Souza, Mario

    1997-01-01

    Jacques Maritain's philosophy of history and philosophy of education both deal with the singularity of experience and the universality of reason. The philosophy of history is subordinated to moral philosophy; the philosophy of education is subordinated to metaphysics. Although Maritain's philosophies reflect a Christian world view, they can make a…

  10. Osteochondromas in fibrodysplasia ossificans progressiva: a widespread trait with a streaking but overlooked appearance when arising at femoral bone end.

    PubMed

    Morales-Piga, A; Bachiller-Corral, J; González-Herranz, P; Medrano-SanIldelfonso, M; Olmedo-Garzón, J; Sánchez-Duffhues, G

    2015-10-01

    Metaphyseal bony outgrowths are a well-recognized feature of fibrodysplasia ossificans progressiva (FOP) phenotype, but its genuine frequency, topographic distribution, morphological aspect, and potential implications are not fully established. To better ascertain the frequency and characteristics of osteocartilaginous exostoses in FOP disease, we conducted a cross-sectional radiological study based on all the traceable cases identified in a previous comprehensive national research. Metaphyseal exostoses were present in all the 17 cases of FOP studied. Although most often arising from the distal femoral (where metaphyseal exostoses adopt a peculiar not yet reported appearance) and proximal tibial bones, we have found that they are not restricted to these areas, but rather can be seen scattered at a variety of other skeletal sites. Using nuclear magnetic resonance imaging, we show that these exophytic outgrowths are true osteochondromas. As a whole, these results are in agreement with data coming from the literature review. Our study confirms the presence of metaphyseal osteochondromas as a very frequent trait of FOP phenotype and an outstanding feature of its anomalous skeletal developmental component. In line with recent evidences, this might imply that dysregulation of BMP signaling, in addition to promoting exuberant heterotopic ossification, could induce aberrant chondrogenesis and osteochondroma formation. Unveiling the molecular links between these physiopathological pathways could help to illuminate the mechanisms that govern bone morphogenesis.

  11. The large-scale structure of software-intensive systems

    PubMed Central

    Booch, Grady

    2012-01-01

    The computer metaphor is dominant in most discussions of neuroscience, but the semantics attached to that metaphor are often quite naive. Herein, we examine the ontology of software-intensive systems, the nature of their structure and the application of the computer metaphor to the metaphysical questions of self and causation. PMID:23386964

  12. Philosophical Foundations of Reform in Higher Education

    ERIC Educational Resources Information Center

    Babarinde, Kola

    2008-01-01

    Kola Babarinde's article opens with a quotation on the theory of change credited to one of the master of classical tradition in the history of the idea. Heraclitus of Ephesus flourished about 500 B.C. Although, little is known about him, he became famous for his metaphysical doctrine that everything is in a state of flux, his comparing all things…

  13. "The Social Responsibility of the Social Scientist."

    ERIC Educational Resources Information Center

    Watson, Bernard C.

    Although social scientists are often adjured to become more "scientific," they might well remember a phenomenon described by Arthur Lovejoy as "metaphysical pathos" or the set of sentiments with which every theory is associated and which are congruent with the mood or deep lying sentiment of its adherents. Examples from the past include the Social…

  14. The Ethical Foundation of Critical Pedagogy in Contemporary Academia: (Self)-Reflection and Complicity in the Process of Teaching

    ERIC Educational Resources Information Center

    Rabikowska, Marta

    2009-01-01

    In this paper an ethical approach to educational methodology is discussed in relation to the philosophies of Emanuel Levinas and Robert Cox. Cox's anti-essentialist understanding of historical materialism and Levinas' metaphysical idealism are applied to an analysis of the (self)-reflective methods required today in Higher Education in the UK,…

  15. The World of the Cave Kid: The Rightful Recognition of Children's Knowledge

    ERIC Educational Resources Information Center

    Bledsoe, Jim

    1977-01-01

    To participate in the increase and dissemination of knowledge about children, the researcher must accept the problem of seeking to become a child again, to re-find discovery and inquiry without their metaphysical underpinnings and conventional opinions. An extended anecdote illustrates one way the author attempted to do this. (MJB)

  16. Philosophy of Education in a Poor Historical Moment: A Personal Account

    ERIC Educational Resources Information Center

    Gur-Zeev, Ilan

    2011-01-01

    Under the post-metaphysical sky "old" humanistic-oriented education is possible solely at the cost of its transformation into its negative, into a power that is determined to diminish human potentials for self-exaltation. Nothing less than total metamorphosis is needed to rescue the core of humanistic genesis: the quest for edifying Life and…

  17. Nature, Education and Things

    ERIC Educational Resources Information Center

    Rømer, Thomas Aastrup

    2013-01-01

    In this essay it is argued that the educational philosophy of John Dewey gains in depth and importance by being related to his philosophy of nature, his metaphysics. The result is that any experiental process is situated inside an event, an existence, a thing, and I try to interpret this "thing" as schools or major cultural events such…

  18. What It Is and that It Is

    ERIC Educational Resources Information Center

    Cannatella, Howard

    2012-01-01

    The title of this paper comes from Aristotle's "Metaphysics." It appropriately captures how he understood art education. In what follows, a considerable amount of the author's thinking is indebted to Plato's and Aristotle's understanding of art education as mimetic education. On first view, an art mimetic educational approach may appear worryingly…

  19. The Penetration of Educational Leadership Texts by Revelation and Prophecy: The Case of Stephen R. Covey.

    ERIC Educational Resources Information Center

    English, Fenwick W.

    2002-01-01

    Argues that the uncritical citation of Stephen R. Covey's book, "The 7 Habits of Highly Effective People," in educational administration texts undermines the social-scientific foundation of university-based administrator preparation. Asserts that the Covey's book is based on Mormon metaphysics, not social science. (Contains 41 references.) (PKP)

  20. Human Genetic Disorders and Knockout Mice Deficient in Glycosaminoglycan

    PubMed Central

    2014-01-01

    Glycosaminoglycans (GAGs) are constructed through the stepwise addition of respective monosaccharides by various glycosyltransferases and maturated by epimerases and sulfotransferases. The structural diversity of GAG polysaccharides, including their sulfation patterns and sequential arrangements, is essential for a wide range of biological activities such as cell signaling, cell proliferation, tissue morphogenesis, and interactions with various growth factors. Studies using knockout mice of enzymes responsible for the biosynthesis of the GAG side chains of proteoglycans have revealed their physiological functions. Furthermore, mutations in the human genes encoding glycosyltransferases, sulfotransferases, and related enzymes responsible for the biosynthesis of GAGs cause a number of genetic disorders including chondrodysplasia, spondyloepiphyseal dysplasia, and Ehlers-Danlos syndromes. This review focused on the increasing number of glycobiological studies on knockout mice and genetic diseases caused by disturbances in the biosynthetic enzymes for GAGs. PMID:25126564

  1. Ellis-van Creveld syndrome

    PubMed Central

    Sasalawad, Shilpa S; Hugar, Shivayogi M; Poonacha, K S; Mallikarjuna, Rachappa

    2013-01-01

    Ellis-van Creveld (EvC) syndrome or chondroectodermal dysplasia is an autosomal recessive disorder with characteristic clinical manifestations. The four principal characteristics are chondrodysplasia, polydactyly, ectodermal dysplasia and congenital heart defects. Its incidence in the general population is low. The oral manifestations of EvC syndrome include both soft tissues and teeth, but the dental literature on the subject is scarce. The present case describes the constant and variable oral findings in these patients, which can be diagnosed at any age, even during pregnancy. The presence of a variety of oral manifestations, such as fusion of upper lip to the gingival margin, presence of multiple frenula, abnormally shaped and microdontic teeth and congenitally missing teeth requires multidisciplinary dental treatment, with consideration for the high incidence of cardiac defects in these patients. PMID:23843404

  2. New mutations in DYNC2H1 and WDR60 genes revealed by whole-exome sequencing in two unrelated Sardinian families with Jeune asphyxiating thoracic dystrophy.

    PubMed

    Cossu, Carla; Incani, Federica; Serra, Maria Luisa; Coiana, Alessandra; Crisponi, Giangiorgio; Boccone, Loredana; Rosatelli, Maria Cristina

    2016-04-01

    Jeune asphyxiating thoracic dystrophy (JATD; Jeune syndrome, MIM 208500) is a rare autosomal recessive chondrodysplasia, phenotypically overlapping with short-rib polydactyly syndromes (SRPS). JATD typical hallmarks include skeletal abnormalities such as narrow chest, shortened ribs, limbs shortened bones, extra fingers and toes (polydactyly), as well as extraskeletal manifestations (renal, liver and retinal disease). To date, disease-causing mutations have been found in several genes, highlighting a marked genetic heterogeneity that prevents a molecular diagnosis of the disease in most families. Here, we report the results of whole-exome sequencing (WES) carried out in four JATD cases, belonging to three unrelated families of Sardinian origin. The exome analysis allowed to identify mutations not previously reported in the DYNC2H1 (MIM 603297) and WDR60 (MIM 615462) genes, both codifying for ciliary intraflagellar transport components whose mutations are known to cause Jeune syndrome.

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

    PubMed Central

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

    2015-01-01

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

  4. Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis.

    PubMed Central

    Horton, W A; Machado, M A; Ellard, J; Campbell, D; Bartley, J; Ramirez, F; Vitale, E; Lee, B

    1992-01-01

    A subtle mutation in the type II collagen gene COL2A1 was detected in a case of human hypochondrogenesis by using a chondrocyte culture system and PCR-cDNA scanning analysis. Chondrocytes obtained from cartilage biopsies were dedifferentiated and expanded in monolayer culture and then redifferentiated by culture over agarose. Single-strand conformation polymorphism and direct sequencing analysis identified a G----A transition, resulting in a glycine substitution at amino acid 574 of the pro alpha 1(II) collagen triple-helical domain. Morphologic assessment of cartilage-like structures produced in culture and electrophoretic analysis of collagens synthesized by the cultured chondrocytes suggested that the glycine substitution interferes with conversion of type II procollagen to collagen, impairs intracellular transport and secretion of the molecule, and disrupts collagen fibril assembly. This experimental approach has broad implications for the investigation of human chondrodysplasias as well as human chondrocyte biology. Images PMID:1374906

  5. New mutations in DYNC2H1 and WDR60 genes revealed by whole-exome sequencing in two unrelated Sardinian families with Jeune asphyxiating thoracic dystrophy.

    PubMed

    Cossu, Carla; Incani, Federica; Serra, Maria Luisa; Coiana, Alessandra; Crisponi, Giangiorgio; Boccone, Loredana; Rosatelli, Maria Cristina

    2016-04-01

    Jeune asphyxiating thoracic dystrophy (JATD; Jeune syndrome, MIM 208500) is a rare autosomal recessive chondrodysplasia, phenotypically overlapping with short-rib polydactyly syndromes (SRPS). JATD typical hallmarks include skeletal abnormalities such as narrow chest, shortened ribs, limbs shortened bones, extra fingers and toes (polydactyly), as well as extraskeletal manifestations (renal, liver and retinal disease). To date, disease-causing mutations have been found in several genes, highlighting a marked genetic heterogeneity that prevents a molecular diagnosis of the disease in most families. Here, we report the results of whole-exome sequencing (WES) carried out in four JATD cases, belonging to three unrelated families of Sardinian origin. The exome analysis allowed to identify mutations not previously reported in the DYNC2H1 (MIM 603297) and WDR60 (MIM 615462) genes, both codifying for ciliary intraflagellar transport components whose mutations are known to cause Jeune syndrome. PMID:26874042

  6. JAWS coordinates chondrogenesis and synovial joint positioning.

    PubMed

    Sohaskey, Michael L; Yu, Jane; Diaz, Michael A; Plaas, Anna H; Harland, Richard M

    2008-07-01

    Properly positioned synovial joints are crucial to coordinated skeletal movement. Despite their importance for skeletal development and function, the molecular mechanisms that underlie joint positioning are not well understood. We show that mice carrying an insertional mutation in a previously uncharacterized gene, which we have named Jaws (joints abnormal with splitting), die perinatally with striking skeletal defects, including ectopic interphalangeal joints. These ectopic joints develop along the longitudinal axis and persist at birth, suggesting that JAWS is uniquely required for the orientation and consequent positioning of interphalangeal joints within the endochondral skeleton. Jaws mutant mice also exhibit severe chondrodysplasia characterized by delayed and disorganized maturation of growth plate chondrocytes, together with impaired chondroitin sulfation and abnormal metabolism of the chondroitin sulfate proteoglycan aggrecan. Our findings identify JAWS as a key regulator of chondrogenesis and synovial joint positioning required for the restriction of joint formation to discrete stereotyped locations in the embryonic skeleton.

  7. Type II collagenopathies: Are there additional family members?

    SciTech Connect

    Freisinger, P.; Pontz, B.F.; Emmrich, P.; Stoess, H.; Bonaventure, J.

    1996-05-03

    The type II collagenopathies represent a group of chondrodysplasia sharing clinical and radiological manifestations which are expressed as a continuous spectrum of phenotypes, ranging from perinatally lethal to very mild conditions. Their common molecular bases are mutations in the type II collagen gene (COL2A1). We describe one case of lethal platyspondylic dysplasia, Torrance type, and a variant of lethal Kniest dysplasia, neither of which has been reported as a type II collagenopathy. Biochemical studies of cartilage collagens and morphological analysis of cartilage sections suggest that abnormalities of type II collagen structure and biosynthesis are the main pathogenetic factors in both cases. Thus, the phenotypic spectrum of type II collagenopathies might be greater than hitherto suspected. 20 refs., 6 figs.

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

    SciTech Connect

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

    1996-05-03

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

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

    SciTech Connect

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

    1994-09-01

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

  10. Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. II: Skeletal dysplasias.

    PubMed

    Oostra, R J; Baljet, B; Dijkstra, P F; Hennekam, R C

    1998-05-01

    The Museum Vrolik collection of the Department of Anatomy and Embryology of the University of Amsterdam, founded by Gerardus Vrolik (1775-1859) and his son Willem Vrolik (1801-1863), consists of more than five thousand specimens of human and animal anatomy, embryology, pathology, and congenital anomalies. Recently, the collection of congenital anomalies was recatalogued and redescribed according to contempory syndromological views. The original descriptions, as far as preserved, were compared with the clinical and radiographical findings. In 18 specimens the following skeletal dysplasias were diagnosed: achondrogenesis, achondroplasia, Blomstrand chondrodysplasia, Majewski syndrome, osteodysplastic primordial dwarfism, osteogenesis imperfecta type I, osteogenesis imperfecta type II, and thanatophoric dysplasia with and without cloverleaf skull. Radiography did not yield a diagnosis in 4 specimens. The use of additional diagnostical techniques, such as MRI and CT scanning and fluorescence in situ hybridization in these specimens, is currently being investigated. PMID:9605285

  11. Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita

    PubMed Central

    Huang, Xiangjun; Deng, Xiong; Xu, Hongbo; Wu, Song; Yuan, Lamei; Yang, Zhijian; Yang, Yan; Deng, Hao

    2015-01-01

    Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodysplasia characterized by disproportionate short-trunk dwarfism, skeletal and vertebral deformities. Exome sequencing and Sanger sequencing were performed in a Chinese Han family with typical SEDC, and a novel mutation, c.620G>A (p.Gly207Glu), in the collagen type II alpha-1 gene (COL2A1) was identified. The mutation may impair protein stability, and lead to dysfunction of type II collagen. Family-based study suggested that the mutation is a de novo mutation. Our study extends the mutation spectrum of SEDC and confirms genotype-phenotype relationship between mutations at glycine in the triple helix of the alpha-1(II) chains of the COL2A1 and clinical findings of SEDC, which may be helpful in the genetic counseling of patients with SEDC. PMID:26030151

  12. Dwarfism and gigantism in historical picture postcards.

    PubMed

    Enderle, A

    1998-05-01

    A collection of 893 historical picture postcards from 1900 to 1935, depicting dwarfs and giants, was analysed from medical and psychosocial viewpoints. In conditions such as 'bird headed dwarfism', achondroplasia, cretinism, so-called Aztecs or pinheads, Grebe chondrodysplasia, and acromegalic gigantism, the disorder could be diagnosed easily. In hypopituitary dwarfism, exact diagnosis was more difficult because of heterogeneity. The most common conditions depicted were pituitary dwarfism and achondroplasia. Most of those with gigantism had pituitary gigantism and acromegaly. Brothers and sisters or parents and their children provided evidence of mendelian inheritance of some of these disorders. The cards suggest that being put on show provided, at least in some cases, social benefits. PMID:9764085

  13. A new reconstruction of Sts 14 pelvis (Australopithecus africanus) from computed tomography and three-dimensional modeling techniques.

    PubMed

    Berge, Christine; Goularas, Dionysis

    2010-03-01

    The purpose of this study is to propose a new reconstruction of the australopithecine Sts 14 pelvis from original fossils. Digital models created from CT images allow us to perform mirroring operations, select valid regions after digital interposition, and reassemble parts. The key-element of the reconstruction is the sacroiliac joint, restored from right and left articular surfaces, which places of the pubic symphysis close to the sagittal plane. The complete pelvis is obtained by 3D model mirroring of hip-bone and sacrum. The present reconstruction of the Sts 14 pelvis is consistent with Schmid's (1983) [Folia Primatol. 40, 283-306, 1983] and Häusler and Schmid's A.L. 288-1 [J. Hum. Evol. 29, 363-383, 1995] pelvic reconstructions by illustrating a relatively platypelloid shape of the pelvic cavity and laterally inclined iliac blades. The pelvic morphology suggests that australopithecines had a less posteriorly tilted sacrum in erect posture than modern humans. As compared with Lovejoy's [Am. J. Phys. Anthropol. Suppl. 50, 460, 1979] A.L. 288-1 pelvic reconstruction, the less transversely flattened shape of the Sts 14 pelvic cavity led to obstetrical mechanics characterized as in humans by ante-ischiatic birth and a curved trajectory. We deduce a human-like movement of rotation and flexion of the fetal skull in the Sts 14 pelvic cavity. PMID:20138331

  14. An experimental statistical analysis of stress projection factors in BCC tantalum

    SciTech Connect

    Carroll, J. D.; Clark, B. G.; Buchheit, T. E.; Boyce, B. L.; Weinberger, C. R.

    2013-10-01

    Crystallographic slip planes in body centered cubic (BCC) metals are not fully understood. In polycrystals, there are additional confounding effects from grain interactions. This paper describes an experimental investigation into the effects of grain orientation and neighbors on elastic–plastic strain accumulation. In situ strain fields were obtained by performing digital image correlation (DIC) on images from a scanning electron microscope (SEM) and from optical microscopy. These strain fields were statistically compared to the grain structure measured by electron backscatter diffraction (EBSD). Spearman rank correlations were performed between effective strain and six microstructural factors including four Schmid factors associated with the <111> slip direction, grain size, and Taylor factor. Modest correlations (~10%) were found for a polycrystal tension specimen. The influence of grain neighbors was first investigated by re-correlating the polycrystal data using clusters of similarly-oriented grains identified by low grain boundary misorientation angles. Second, the experiment was repeated on a tantalum oligocrystal, with through-thickness grains. Much larger correlation coefficients were found in this multicrystal due to the dearth of grain neighbors and subsurface microstructure. Finally, a slip trace analysis indicated (in agreement with statistical correlations) that macroscopic slip often occurs on {110}<111> slip systems and sometimes by pencil glide on maximum resolved shear stress planes (MRSSP). These results suggest that Schmid factors are suitable for room temperature, quasistatic, tensile deformation in tantalum as long as grain neighbor effects are accounted for.

  15. The intermediate oxidation of the Pd(100) surface

    NASA Astrophysics Data System (ADS)

    Mikkelsen, A.; Lundgren, E.; Gustafson, J.; Borg, M.; Andersen, J. N.

    2003-03-01

    The formation of oxides on metal surfaces has recently received much attention. Apart from the fundamental importance of the oxidation process, the interest is driven by the observation that oxides can play an important role in catalysis1, 2. The geometric structure of surface oxides can in some cases3 not be directly inferred from known bulk oxides. The surface structures formed by oxygen on Pd(100) have been studied by Scanning Tunneling Microscopy (STM), High Resolution Core-Level Spectroscopy (HRCLS) and Low Energy Electron Diffraction (LEED). It is shown that the structure determined in a recent LEED analysis4 of the Pd(100)- (root5xroot5)-O structure formed by adsorption of 0.8 ML of oxygen is difficult to reconcile with our STM and HRCLS data. New models for this surface oxide consistent with our experimental results are suggested. [1] Y. D. Kim, A. P. Seitsonen, S. Wendt, E. Lundgren, M. Schmid, P. Varga, A. Morgante, and G. Ertl., Science 287, 1474 (2000). [2] B. L. M. Hendriksen and J. W. M. Frenken, Phys. Rev. Lett. 89, 046101 (2002). [3] E. Lundgren,, G. Kresse, C. Klein, M. Borg, J.N. Andersen, M. De Santis, Y. Gauthier, C. Konvicka, M. Schmid, and P.Varga, Phys. Rev. Lett. 88 (2002) 246103 [4] M. Saidy, O.L. Warren, P.A. Thiel, and K.A.R. Mitchell, Surf. Sci. 494, L799 (2001).

  16. Orientation dependence of void growth at triple junction of grain boundaries in nanoscale tricrystal nickel film subjected to uniaxial tensile loading

    NASA Astrophysics Data System (ADS)

    Zhang, Yanqiu; Jiang, Shuyong; Zhu, Xiaoming; Sun, Dong

    2016-11-01

    Molecular dynamics simulation was performed in order to investigate the dependence of void growth on crystallographic orientation at the triple junction of grain boundaries in nanoscale tricrystal nickel film subjected to uniaxial tensile loading. The nucleation, the emission and the transmission of Shockley partial dislocations play a predominant role in the growth of void at the triple junction of grain boundaries. The orientation factors of various slip systems are calculated according to Schmid law. The slip systems activated in a grain of tricrystal nickel film basically conform to Schmid law which is completely suitable for a single crystal. The activated slip systems play an important role in plastic deformation of nanoscale tricrystal nickel film subjected to uniaxial tensile loading. The slip directions exhibit great difference among the activated slip systems such that the void is caused to be subjected to various stress conditions, which further leads to the difference in void growth among the tricrystal nickel films with different orientation distributions. It can be concluded that the grain orientation distribution has a significant influence on void growth at the triple junction of grain boundaries.

  17. Anisotropy of nickel-base superalloy single crystals

    NASA Technical Reports Server (NTRS)

    Mackay, R. A.; Dreshfield, R. L.; Maier, R. D.

    1980-01-01

    The influence of orientation on the tensile and stress rupture behavior of 52 Mar-M247 single crystals was studied. Tensile tests were performed at temperatures between 23 and 1093 C; stress rupture behavior was examined between 760 and 1038 C. The mechanical behavior of the single crystals was rationalized on the basis of the Schmid factor contours for the operative slip systems and the lattice rotations which the crystals underwent during deformation. The tensile properties correlated well with the appropriate Schmid factor contours. The stress rupture lives at lower testing temperatures were greatly influenced by the lattice rotations required to produce cross slip. A unified analysis was attained for the stress rupture life data generated for the Mar-M247 single crystals at 760 and 774 C under a stress of 724 MPa and the data reported for Mar-M200 single crystals tested at 760 C under a stress of 689 MPa. Based on this analysis, the stereographic triangle was divided into several regions which were rank ordered according to stress rupture life for this temperature regime.

  18. Anisotropy of nickel-base superalloy single crystals

    NASA Technical Reports Server (NTRS)

    Mackay, R. A.; Maier, R. D.; Dreshfield, R. L.

    1980-01-01

    The effects of crystal orientation on the mechanical properties of single crystals of the nickel-based superalloy Mar-M247 are investigated. Tensile tests at temperatures from 23 to 1093 C and stress rupture tests at temperatures from 760 to 1038 C were performed for 52 single crystals at various orientations. During tensile testing between 23 and 760 C, single crystals with high Schmid factors were found to be favorably oriented for slip and to exhibit lower strength and higher ductility than those with low Schmid factors. Crystals which required large rotations to become oriented for cross slip were observed to have the shortest stress rupture lives at 760 C, while those which required little or no rotation had the longest lives. In addition, stereographic triangles obtained for Mar-M247 and Mar-M200 single crystals reveal that crystals with orientations near the -111 had the highest lives, those near the 001 had high lives, and those near the 011 had low lives.

  19. International Society for the Advancement of Cytometry Cell Sorter Biosafety Standards

    PubMed Central

    Holmes, Kevin L.; Fontes, Benjamin; Hogarth, Philip; Konz, Richard; Monard, Simon; Pletcher, Charles H.; Wadley, Robert B.; Schmid, Ingrid; Perfetto, Stephen P.

    2014-01-01

    Flow cytometric cell sorting of biological specimens has become prevalent in basic and clinical research laboratories. These specimens may contain known or unknown infectious agents, necessitating precautions to protect instrument operators and the environment from biohazards arising from the use of sorters. To this end the International Society of Analytical Cytology (ISAC) was proactive in establishing biosafety guidelines in 1997 (Schmid et al., Cytometry 1997;28:99–117) and subsequently published revised biosafety standards for cell sorting of unfixed samples in 2007 (Schmid et al., Cytometry Part A J Int Soc Anal Cytol 2007;71A:414–437). Since their publication, these documents have become recognized worldwide as the standard of practice and safety precautions for laboratories performing cell sorting experiments. However, the field of cytometry has progressed since 2007, and the document requires an update. The new Standards provides guidance: (1) for laboratory design for cell sorter laboratories; (2) for the creation of laboratory or instrument specific Standard Operating Procedures (SOP); and (3) on procedures for the safe operation of cell sorters, including personal protective equipment (PPE) and validation of aerosol containment. PMID:24634405

  20. A new reconstruction of Sts 14 pelvis (Australopithecus africanus) from computed tomography and three-dimensional modeling techniques.

    PubMed

    Berge, Christine; Goularas, Dionysis

    2010-03-01

    The purpose of this study is to propose a new reconstruction of the australopithecine Sts 14 pelvis from original fossils. Digital models created from CT images allow us to perform mirroring operations, select valid regions after digital interposition, and reassemble parts. The key-element of the reconstruction is the sacroiliac joint, restored from right and left articular surfaces, which places of the pubic symphysis close to the sagittal plane. The complete pelvis is obtained by 3D model mirroring of hip-bone and sacrum. The present reconstruction of the Sts 14 pelvis is consistent with Schmid's (1983) [Folia Primatol. 40, 283-306, 1983] and Häusler and Schmid's A.L. 288-1 [J. Hum. Evol. 29, 363-383, 1995] pelvic reconstructions by illustrating a relatively platypelloid shape of the pelvic cavity and laterally inclined iliac blades. The pelvic morphology suggests that australopithecines had a less posteriorly tilted sacrum in erect posture than modern humans. As compared with Lovejoy's [Am. J. Phys. Anthropol. Suppl. 50, 460, 1979] A.L. 288-1 pelvic reconstruction, the less transversely flattened shape of the Sts 14 pelvic cavity led to obstetrical mechanics characterized as in humans by ante-ischiatic birth and a curved trajectory. We deduce a human-like movement of rotation and flexion of the fetal skull in the Sts 14 pelvic cavity.

  1. Deformation localization and dislocation channel dynamics in neutron-irradiated austenitic stainless steels

    DOE PAGESBeta

    Gussev, Maxim N.; Field, Kevin G.; Busby, Jeremy T.

    2015-02-24

    We investigated dynamics of deformation localization and dislocation channel formation in situ in a neutron irradiated AISI 304 austenitic stainless steel and a model 304-based austenitic alloy by combining several analytical techniques including optic microscopy and laser confocal microscopy, scanning electron microscopy, electron backscatter diffraction and transmission electron microscopy. Channel formation was observed at 70% of the formal tensile yield stress for both alloys. It was shown that triple junction points do not always serve as a source of dislocation channels; at stress levels below the yield stress, channels often formed near the middle of the grain boundary. For amore » single grain, the role of elastic stiffness value (Young modulus) in the channel formation was analyzed; it was shown that in the irradiated 304 steels the initial channels appeared in soft grains with a high Schmid factor located near stiff grains with high elastic stiffness. Moreover, the spatial organization of channels in a single grain was analyzed; it was shown that secondary channels operating in the same slip plane as primary channels often appeared at the middle or at one third of the way between primary channels. The twinning nature of dislocation channels was analyzed for grains of different orientation using TEM. Finally, it was shown that in the AISI 304 steel, channels were twin-free in grains oriented close to [001] and [101] of standard unit triangle; [111]-grains and grains oriented close to Schmid factor maximum contained deformation twins.« less

  2. Deformation localization and dislocation channel dynamics in neutron-irradiated austenitic stainless steels

    SciTech Connect

    Gussev, Maxim N.; Field, Kevin G.; Busby, Jeremy T.

    2015-02-24

    We investigated dynamics of deformation localization and dislocation channel formation in situ in a neutron irradiated AISI 304 austenitic stainless steel and a model 304-based austenitic alloy by combining several analytical techniques including optic microscopy and laser confocal microscopy, scanning electron microscopy, electron backscatter diffraction and transmission electron microscopy. Channel formation was observed at 70% of the formal tensile yield stress for both alloys. It was shown that triple junction points do not always serve as a source of dislocation channels; at stress levels below the yield stress, channels often formed near the middle of the grain boundary. For a single grain, the role of elastic stiffness value (Young modulus) in the channel formation was analyzed; it was shown that in the irradiated 304 steels the initial channels appeared in soft grains with a high Schmid factor located near stiff grains with high elastic stiffness. Moreover, the spatial organization of channels in a single grain was analyzed; it was shown that secondary channels operating in the same slip plane as primary channels often appeared at the middle or at one third of the way between primary channels. The twinning nature of dislocation channels was analyzed for grains of different orientation using TEM. Finally, it was shown that in the AISI 304 steel, channels were twin-free in grains oriented close to [001] and [101] of standard unit triangle; [111]-grains and grains oriented close to Schmid factor maximum contained deformation twins.

  3. Strength anomaly in B2 FeAl single crystals

    SciTech Connect

    Yoshimi, K.; Hanada, S.; Yoo, M.H.; Matsumoto, N.

    1994-12-31

    Strength and deformation microstructure of B2 Fe-39 and 48%Al single crystals (composition given in atomic percent), which were fully annealed to remove frozen-in vacancies, have been investigated at temperatures between room temperature and 1073K. The hardness of as-homogenized Fe-48Al is higher than that of as-homogenized Fe-39Al while after additional annealing at 698K the hardness of Fe-48Al becomes lower than that of Fe-39Al. Fe-39Al single crystals slowly cooled after homogenizing at a high temperature were deformed in compression as a function of temperature and crystal orientation. A peak of yield strength appears around 0.5T{sub m} (T{sub m} = melting temperature). The orientation dependence of the critical resolved shear stress does not obey Schmid`s law even at room temperature and is quite different from that of b.c.c. metals and B2 intermetallics at low temperatures. At the peak temperature slip transition from <111>-type to <001>-type is found to occur macroscopically and microscopically, while it is observed in TEM that some of the [111] dislocations decompose into [101] and [010] on the (1096I) plane below the peak temperature. The physical sources for the positive temperature dependence of yield stress of B2 FeAl are discussed based on the obtained results.

  4. Intercomparison of thermal and optical measurement methods for elemental carbon and black carbon at an urban location.

    PubMed

    Hitzenberger, R; Petzold, A; Bauer, H; Ctyroky, P; Pouresmaeil, P; Laskus, L; Puxbaum, H

    2006-10-15

    Despite intensive efforts during the past 20 years, no generally accepted standard method exists to measure black carbon (BC) or elemental carbon (EC). Data on BC and EC concentrations are method specific and can differ widely (e.g. Schmid et al., 2001, ten Brink et al., 2004). In this study, a comprehensive set of methods (both optical and thermal) is compared. Measurements were performed under urban background conditions in Vienna, Austria, a city heavily impacted by diesel emissions. Filter and impactor samples were taken during 3 weeks in summer 2002 and analyzed for EC with thermal methods: a modified Cachier method (Cachier et al., 1989), a thermal-optical method (Schmid et al., 2001), and the VDI method (VDI, 1996); for BC with optical methods: a filter transmission method and the integrating sphere method (Hitzenberger et al., 1996); and for total carbon (TC) with a combustion method (Puxbaum and Rendl, 1983). The online methods aethalometer (Hansen et al., 1984) and the multiangle absorption photometer MAAP (Petzold et al., 2002) to measure BC were also used. The average values of BC and EC obtained with the methods agreed within their standard deviations. A conversion table was set up to allow comparisons between data measured elsewhere under urban background conditions (with similar source characteristics) with different instruments. An approach to estimate the absorption coefficient from attenuation data is derived so that existing records of aethalometer data in urban environments may be used to obtain also the absorption coefficients.

  5. Anisotropic constitutive model for nickel base single crystal alloys: Development and finite element implementation

    NASA Technical Reports Server (NTRS)

    Dame, L. T.; Stouffer, D. C.

    1986-01-01

    A tool for the mechanical analysis of nickel base single crystal superalloys, specifically Rene N4, used in gas turbine engine components is developed. This is achieved by a rate dependent anisotropic constitutive model implemented in a nonlinear three dimensional finite element code. The constitutive model is developed from metallurigical concepts utilizing a crystallographic approach. A non Schmid's law formulation is used to model the tension/compression asymmetry and orientation dependence in octahedral slip. Schmid's law is a good approximation to the inelastic response of the material in cube slip. The constitutive equations model the tensile behavior, creep response, and strain rate sensitivity of these alloys. Methods for deriving the material constants from standard tests are presented. The finite element implementation utilizes an initial strain method and twenty noded isoparametric solid elements. The ability to model piecewise linear load histories is included in the finite element code. The constitutive equations are accurately and economically integrated using a second order Adams-Moulton predictor-corrector method with a dynamic time incrementing procedure. Computed results from the finite element code are compared with experimental data for tensile, creep and cyclic tests at 760 deg C. The strain rate sensitivity and stress relaxation capabilities of the model are evaluated.

  6. Orientation and temperature dependence of some mechanical properties of the single-crystal nickel-base superalloy Rene N4. 3: Tension-compression anisotropy

    NASA Technical Reports Server (NTRS)

    Miner, R. V.; Gaab, T. P.; Gayda, J.; Hemker, K. J.

    1985-01-01

    Single crystal superalloy specimens with various crystallographic directions along their axes were tested in compression at room temperature, 650, 760, 870, and 980 deg C. These results are compared with the tensile behavior studied previously. The alloy, Rene N4, was developed for gas turbine engine blades and has the nominal composition 3.7 Al, 4.2 Ti, 4 Ta, 0.5 Nb, 6 W, 1.5 Mo 9 Cr. 7.5 Co, balance Ni, in weight percent. Slip trace analysis showed that primary cube slip occurred even at room temperature for the 111 specimens. With increasing test temperature more orientations exhibited primary cube slip, until at 870 deg C only the 100 and 011 specimens exhibited normal octahedral slip. The yield strength for octahedral slip was numerically analysed using a model proposed by Lall, Chin, and Pope to explain deviations from Schmid's Law in the yielding behavior of a single phase Gamma prime alloy, Ni3(Al, Nb). The Schmid's Law deviations in Rene N4 were found to be largely due to a tension-compression anisotropy. A second effect, which increases trength for orientations away from 001, was found to be small in Rene N4. Analysis of recently published data on the single crystal superalloy PWA 1480 yielded the same result.

  7. An RNA-splicing mutation (G{sup +51VS20}) in the Type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita

    SciTech Connect

    Tiller, G.E.; Polumbo, P.A.; Weis, M.A.; Eyre, D.R.; Gruber, H.E.; Rimoin, D.L.; Cohn, D.H. |

    1995-02-01

    Defects in type II collagen have been demonstrated in a phenotypic continuum of chondrodysplasias that includes achondrogenesis II, hypochondrogenesis, spondyloepiphyseal dysplasia congenita (SEDC), Kniest dysplasia, and Stickler syndrome. We have determined that cartilage from a terminated fetus with an inherited form of SEDC contained both normal {alpha}1(II) collagen chains and chains that lacked amino acids 256-273 of the triple-helical domain. PCR amplification of this region of COL2A1, from genomic DNA, yielded products of normal size, while amplification of cDNA yielded a normal sized species and a shorter fragment missing exon 20. Sequence analysis of genomic DNA from the fetus revealed a G{yields}T transversion at position +5 of intron 20; the affected father was also heterozygous for the mutation. Allele-specific PCR and heteroduplex analysis of a VNTR in COL2A1 independently confirmed the unaffected status of a fetus in a subsequent pregnancy. Thermodynamic calculations suggest that the mutation prevents normal splicing of exon 20 by interfering with binding of U{sub 1} small-nuclear RNA to pre-mRNA, thus leading to skipping of exon 20 in transcripts from the mutant allele. Electron micrographs of diseased cartilage showed intracellular inclusion bodies, which were stained by an antibody to {alpha}1(II) procollagen. Our findings support the hypothesis that {alpha}-chain length alterations that preserve the Gly-X-Y repeat motif of the triple helix result in partial intracellular retention of {alpha}1(II) procollagen and produce mild to moderate chondrodysplasia phenotypes. 50 refs., 6 figs., 1 tab.

  8. A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency.

    PubMed

    Buchert, Rebecca; Tawamie, Hasan; Smith, Christopher; Uebe, Steffen; Innes, A Micheil; Al Hallak, Bassam; Ekici, Arif B; Sticht, Heinrich; Schwarze, Bernd; Lamont, Ryan E; Parboosingh, Jillian S; Bernier, Francois P; Abou Jamra, Rami

    2014-11-01

    Rhizomelic chondrodysplasia punctata (RCDP) is a group of disorders with overlapping clinical features including rhizomelia, chondrodysplasia punctata, coronal clefts, cervical dysplasia, congenital cataracts, profound postnatal growth retardation, severe intellectual disability, and seizures. Mutations in PEX7, GNPAT, and AGPS, all involved in the plasmalogen-biosynthesis pathway, have been described in individuals with RCDP. Here, we report the identification of mutations in another gene in plasmalogen biosynthesis, fatty acyl-CoA reductase 1 (FAR1), in two families affected by severe intellectual disability, early-onset epilepsy, microcephaly, congenital cataracts, growth retardation, and spasticity. Exome analyses revealed a homozygous in-frame indel mutation (c.495_507delinsT [p.Glu165_Pro169delinsAsp]) in two siblings from a consanguineous family and compound-heterozygous mutations (c.[787C>T];[1094A>G], p.[Arg263(∗)];[Asp365Gly]) in a third unrelated individual. FAR1 reduces fatty acids to their respective fatty alcohols for the plasmalogen-biosynthesis pathway. To assess the pathogenicity of the identified mutations, we transfected human embryonic kidney 293 cells with plasmids encoding FAR1 with either wild-type or mutated constructs and extracted the lipids from the cells. We screened the lipids with gas chromatography and mass spectrometry and found that all three mutations abolished the reductase activity of FAR1, given that no fatty alcohols could be detected. We also observed reduced plasmalogens in red blood cells in one individual to a range similar to that seen in individuals with RCDP, further supporting abolished FAR1 activity. We thus expand the spectrum of clinical features associated with defects in plasmalogen biosynthesis to include FAR1 deficiency as a cause of syndromic severe intellectual disability with cataracts, epilepsy, and growth retardation but without rhizomelia.

  9. Undersulfation of cartilage proteoglycans ex vivo and increased contribution of amino acid sulfur to sulfation in vitro in McAlister dysplasia/atelosteogenesis type 2.

    PubMed

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

    1997-09-15

    Mutations in the diastrophic dysplasia sulfate transporter gene cause a family of chondrodysplasias including, in order of increasing severity, diastrophic dysplasia, atelosteogenesis type 2 and achondrogenesis type 1B. McAlister dysplasia is a lethal chondrodysplasia considered on the basis of minor radiographic features to be a disorder different from atelosteogenesis type 2. Here, we demonstrate that McAlister dysplasia arises from mutations in the diastrophic dysplasia sulfate transporter gene and that this disorder essentially coincides on molecular and biochemical grounds with atelosteogenesis type 2. The fetus affected by McAlister dysplasia we have studied is a compound heterozygote for mutations leading to R279W and N425D substitutions in the diastrophic dysplasia sulfate transporter. Proteoglycan sulfation was studied in epiphyseal cartilage and in chondrocyte cultures of the patient by high performance liquid chromatography of chondrotinase digested proteoglycans; a high amount of non-sulfated disaccharide was observed as a consequence of the alteration of the transporter function caused by the mutations. However, sulfated disaccharides were detectable even if in low amounts, both in cultured cells and tissue. Functional impairment of the sulfate transporter was demonstrated in vitro by reduced incorporation of [35S]sulfate relative to [3H]glucosamine in proteoglycans synthesized by chondrocytes and by sulfate-uptake assays in fibroblasts. Parallel in vitro studies in a patient with achondrogenesis 1B indicated that the severity of the clinical phenotype seems to be correlated to the residual activity of the sulfate transporter. The capacity of fibroblasts to use cysteine as an alternative source of sulfate was evaluated by double-labeling experiments. Relative incorporation of [35S]cysteine-derived sulfate in the glycosaminoglycan chains was increased in the patient's cells, indicating that, in vitro, the catabolism of sulfur-containing amino acids can

  10. An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita.

    PubMed

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

    1995-02-01

    Defects in type II collagen have been demonstrated in a phenotypic continuum of chondrodysplasias that includes achondrogenesis II, hypochondrogenesis, spondyloepiphyseal dysplasia congenita (SEDC), Kniest dysplasia, and Stickler syndrome. We have determined that cartilage from a terminated fetus with an inherited form of SEDC contained both normal alpha 1(II) collagen chains and chains that lacked amino acids 256-273 of the triple-helical domain. PCR amplification of this region of COL2A1, from genomic DNA, yielded products of normal size, while amplification of cDNA yielded a normal sized species and a shorter fragment missing exon 20. Sequence analysis of genomic DNA from the fetus revealed a G-->T transversion at position +5 of intron 20; the affected father was also heterozygous for the mutation. Allele-specific PCR and heteroduplex analysis of a VNTR in COL2A1 independently confirmed the unaffected status of a fetus in a subsequent pregnancy. Thermodynamic calculations suggest that the mutation prevents normal splicing of exon 20 by interfering with binding of U1 small-nuclear RNA to pre-mRNA, thus leading to skipping of exon 20 in transcripts from the mutant allele. Electron micrographs of diseased cartilage showed intracellular inclusion bodies, which were stained by an antibody to alpha 1(II) procollagen. Our findings support the hypothesis that alpha-chain length alterations that preserve the Gly-X-Y repeat motif of the triple helix result in partial intracellular retention of alpha 1(II) procollagen and produce mild to moderate chondrodysplasia phenotypes. PMID:7847372

  11. Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia.

    PubMed

    Rossi, A; van der Harten, H J; Beemer, F A; Kleijer, W J; Gitzelmann, R; Steinmann, B; Superti-Furga, A

    1996-12-01

    Mutations in the diastrophic dysplasia sulfate transporter gene DTDST have been associated with a family of chondrodysplasias that comprises, in order of increasing severity, diastrophic dysplasia (DTD), atelosteogenesis type 2 (AO2), and achondrogenesis type 1B (ACG1B). To learn more about the molecular basis of DTDST chondrodysplasias and about genotype-phenotype correlations, we studied fibroblast cultures of three new patients: one with AO-2, one with DTD, and one with an intermediate phenotype (AO2/DTD). Reduced incorporation of inorganic sulfate into macromolecules was found in all three. Each of the three patients was found to be heterozygous for a c862t transition predicting a R279W substitution in the third extracellular loop of DTDST. In two patients (DTD and AO2/DTD), no other structural mutation was found, but polymerase chain reaction amplification and single-strand conformation polymorphism analysis of fibroblast cDNA showed reduced mRNA levels of the wild-type DTDST allele: these two patients may be compound heterozygotes for the "Finnish" mutation (as yet uncharacterized at the DNA level), which causes reduced expression of DTDST. The third patient (with AO2) had the R279W mutation compounded with a novel mutation, the deletion of cytosine 418 (delta c418), predicting a frameshift with premature termination. Also the delta c418 allele was underrepresented in the cDNA, in accordance with previous observations that premature stop codons reduce mRNA levels. The presence of the DTDST R279W mutation in a total of 11 patients with AO2 or DTD emphasizes the overlap between these conditions. This mutation has not been found so far in 8 analyzed ACG1B patients, suggesting that it allows some residual activity of the sulfate transporter. PMID:8931695

  12. Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells.

    PubMed

    Karniski, Lawrence P

    2004-10-01

    Defects in sulfate transport in chondrocytes lead to undersulfation of the cartilage extracellular matrix proteoglycans. Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene have been linked to four chondrodysplasias of varying severity. To characterize disease-causing mutations of DTDST, we expressed DTDST-mediated sulfate transport in mammalian HEK-293 cells and determined that the wild-type protein is glycosylated and localized to the cell plasma membrane. Four mutations, A715V, C653S, Q454P and R279W, stimulated sulfate transport at rates only 39-62% of wild-type DTDST. These four mutations were expressed on the plasma membrane of the cell, but the amount of expressed protein was reduced when compared with wild-type DTDST. The Q454P mutant is unique in that it is not properly glycosylated in HEK cells. There was no difference in sulfate transport activity between cells transfected with either the DeltaV340 or the G678V mutations and control HEK cells. Furthermore, the G678V mutation is not expressed along the plasma membrane, but is trapped within the cytoplasm. When comparing the sulfate transport capacity of each DTDST mutation with the chondrodysplasia in which it has been identified, we find that individuals with severe achondrogenesis 1B phenotype have null mutations on both DTDST alleles. Heterozygotes for both a null mutation and a partial-function mutation result in either atelosteogenesis type 2 or DTD, whereas the milder, recessive multiple epiphyseal dysplasia phenotype is homozygous for partial-function mutations. In contrast to previous studies in Xenopus laevis oocytes, we find a strong correlation between the severity of the phenotype and the level of residual transport function in mammalian cells. PMID:15294877

  13. An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita.

    PubMed Central

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

    1995-01-01

    Defects in type II collagen have been demonstrated in a phenotypic continuum of chondrodysplasias that includes achondrogenesis II, hypochondrogenesis, spondyloepiphyseal dysplasia congenita (SEDC), Kniest dysplasia, and Stickler syndrome. We have determined that cartilage from a terminated fetus with an inherited form of SEDC contained both normal alpha 1(II) collagen chains and chains that lacked amino acids 256-273 of the triple-helical domain. PCR amplification of this region of COL2A1, from genomic DNA, yielded products of normal size, while amplification of cDNA yielded a normal sized species and a shorter fragment missing exon 20. Sequence analysis of genomic DNA from the fetus revealed a G-->T transversion at position +5 of intron 20; the affected father was also heterozygous for the mutation. Allele-specific PCR and heteroduplex analysis of a VNTR in COL2A1 independently confirmed the unaffected status of a fetus in a subsequent pregnancy. Thermodynamic calculations suggest that the mutation prevents normal splicing of exon 20 by interfering with binding of U1 small-nuclear RNA to pre-mRNA, thus leading to skipping of exon 20 in transcripts from the mutant allele. Electron micrographs of diseased cartilage showed intracellular inclusion bodies, which were stained by an antibody to alpha 1(II) procollagen. Our findings support the hypothesis that alpha-chain length alterations that preserve the Gly-X-Y repeat motif of the triple helix result in partial intracellular retention of alpha 1(II) procollagen and produce mild to moderate chondrodysplasia phenotypes. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 Figure 6 PMID:7847372

  14. Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia.

    PubMed Central

    Bogaert, R.; Wilkin, D.; Wilcox, W. R.; Lachman, R.; Rimoin, D.; Cohn, D. H.; Eyre, D. R.

    1994-01-01

    Kniest dysplasia is a heritable chondrodysplasia that severely affects skeletal growth. Recent evidence suggests that the etiology is based on mutations in COL2A1, the gene for collagen type II. We report the detection and partial characterization of an identical defect in type II collagen in two unrelated patients with Kniest dysplasia. Analysis of cyanogen bromide (CB)-digested cartilage samples from both probands by SDS-PAGE revealed an abnormal band for peptide alpha 1(II)CB12. The peptide was purified and digested with endoproteinase Asp-N. Fragments unique to the Kniest tissues were identified by reverse-phase high-pressure liquid chromatography and by sequence analysis. The results established a deletion of amino acids 102-108 of the alpha 1(II) triple-helical domain, which disrupted the (gly-X-Y)n repeat needed for helix formation. This was confirmed by sequence analysis of DNA amplified from both probands, revealing the molecular basis to be a single nucleotide mutation at a CpG dinucleotide (GCG-->GTG) in the codon for alanine 102. The mutation created a new splice donor site, which would account for the absence of the last seven amino acids from the 3' end of exon 12 in alpha 1(II)CB12. Light and electron micrographs of the probands' cartilage showed the perilacunar foamy matrix ("Swiss cheese") characteristic of Kniest dysplasia and chondrocytes containing dilated rough endoplasmic reticulum, which earlier studies had shown were filled with type II procollagen. These two cases strengthen the concept that Kniest dysplasia is based on mutations of COL2A1 and belongs within the broad spectrum of chondrodysplasias caused by type II collagenopathies. Images Figure 1 Figure 2 Figure 3 Figure 6 Figure 7 Figure 8 PMID:7977371

  15. Identification of six novel PTH1R mutations in families with a history of primary failure of tooth eruption.

    PubMed

    Risom, Lotte; Christoffersen, Line; Daugaard-Jensen, Jette; Hove, Hanne Dahlgaard; Andersen, Henriette Skovgaard; Andresen, Brage Storstein; Kreiborg, Sven; Duno, Morten

    2013-01-01

    Primary Failure of tooth Eruption (PFE) is a non-syndromic disorder which can be caused by mutations in the parathyroid hormone receptor 1 gene (PTH1R). Traditionally, the disorder has been identified clinically based on post-emergent failure of eruption of permanent molars. However, patients with PTH1R mutations will not benefit from surgical and/or orthodontic treatment and it is therefore clinically important to establish whether a given failure of tooth eruption is caused by a PTH1R defect or not. We analyzed the PTH1R gene in six patients clinically diagnosed with PFE, all of which had undergone surgical and/or orthodontic interventions, and identified novel PTH1R mutations in all. Four of the six mutations were predicted to abolish correct mRNA maturation either through introduction of premature stop codons (c.947C>A and c.1082G>A), or by altering correct mRNA splicing (c.544-26_544-23del and c.989G>T). The latter was validated by transfection of minigenes. The six novel mutations expand the mutation spectrum for PFE from eight to 14 pathogenic mutations. Loss-of-function mutations in PTH1R are also associated with recessively inherited Blomstrand chondrodysplasia. We compiled all published PTH1R mutations and identified a mutational overlap between Blomstrand chondrodysplasia and PFE. The results suggest that a genetic approach to preclinical diagnosis will have important implication for surgical and orthodontic treatment of patients with failure of tooth eruption.

  16. Plato's theological astronomy II. The Laws: an old man looking back

    NASA Astrophysics Data System (ADS)

    Sinachopoulos, A.; Sinachopoulos, D.

    1999-06-01

    In The Laws, Plato considered astronomy as socially necessary but espoused a metaphysical model for the heavens, in which celestial motions were due to souls of gods. He furthermore reasoned against physical philosophers whose ideas he found dangerous for the youth. His views on astronomy and on the necessity "to ignore the visible heavens" have been vividly discussed over the last 150 years. For more than 20 centuries astronomy was characterized by the Platonic spirit, according to which there is no need for observations but only for metaphysical theories. However Plato was not actually concerned with astronomy and, by extension, natural sciences in general; his central interest focused on how to govern his perfect state.

  17. Contemporary art and the ethics of anatomy.

    PubMed

    Barilan, Y Michael

    2007-01-01

    The ethics of anatomy bears on the ways in which we present and behold human bodies and human remains, as well as on the duties we have with regard to the persons whose bodies or body parts are presented. Anatomy is also a mode of thought and of social organization. Following Merleau-Ponty's assertion that the human body belongs both to the particular and to the metaphysical, I contend that art's ways of rendering of the particular in human anatomy often bring into relief metaphysical and ethical insights relevant to clinical medicine. This paper discusses the art of Gideon Gechtman, Mary Ellen Mark, Shari Zolla, and Christine Borland. It considers the relationship of these artists to earlier artistic traditions and the implications of their work for contemporary medicine and the biopsychosocial paradigm. Andrew Wyeth, the Visible Male Project, the Isenheim Altarpiece by GrA(1/4)newald, and an anonymous Dutch Baroque portrait are also discussed. PMID:17259679

  18. A short commentary on Aristotle's scientific legacy and his definition of the physiologist.

    PubMed

    Zarros, Apostolos

    2014-06-01

    The roots of physiology - on the basis of a systematic study of the human body's functions and their correlation to anatomy - date back to the works of Aristotle. The pupil of Plato and the tutor of Alexander the Great was a one-man university, and his contributions to the medical sciences have been immense. His surviving works highlight the first serious approach towards the rejection of metaphysical and mythological thought, and have: (i) demonstrated a deep appreciation for a systematic, non-metaphysical study of the natural world, (ii) set the foundations of comparative and human anatomy, (iii) established the first (indirect) definition of the "physiologist", and (iv) exercised a dominant influence upon the subsequent history of Hellenistic, European and Arabic Medicine. The current letter provides a short commentary on the historical account of Physiology as a scientific field and underlines the unique legacy that Aristotle has provided us with.

  19. Unusual presentation of Erdheim-Chester disease in a child with acute lymphoblastic leukemia

    PubMed Central

    Vallonthaiel, Archana George; Mridha, Asit Ranjan; Gamanagatti, Shivanand; Jana, Manisha; Sharma, Mehar Chand; Khan, Shah Alam; Bakhshi, Sameer

    2016-01-01

    Erdheim-Chester disease (ECD) is an uncommon, non-familial, non-Langerhans cell histiocytosis, which involves skeletal system and soft tissue usually in middle aged and elderly patients. The characteristic radiologic features include bilateral, symmetric cortical osteosclerosis of the diaphyseal and metaphyseal parts of the long bones, or bilateral symmetrically abnormal intense 99mTechnetium labelling of the metaphyseal-diaphyseal region of the long bones, and computed tomography scan findings of “coated aorta” or “hairy kidneys”. ECD in childhood with osteolytic lesion is extremely rare. We describe an unusual case with an expansile lytic bone lesion at presentation in a case of acute lymphoblastic leukemia. PMID:27648170

  20. Load transfer characteristics of a noncemented total knee arthroplasty.

    PubMed

    Whiteside, L A; Pafford, J

    1989-02-01

    This study evaluated load transfer characteristics of femoral and tibial components of a total knee prosthesis that was designed to achieve distal femoral and proximal tibial compressive load-bearing. Strain gauge readings were highest on the cortex of the tibial metaphyseal flare. Roentgenograms of 110 patients with noncemented total knee arthroplasty (TKA) with follow-up periods of 12-24 months were evaluated. Cancellous bone hypertrophy bridging from the undersurface of the tibial component to the metaphyseal cortical bone was noted on all roentgenograms at six months, suggesting stress transfer through cancellous bone to this area. Anterolateral sinking was noted in six of the first 46 patients but was not seen again in the series after a design change was made to more rigidly fix the stem in the bone of the upper tibia. Roentgenograms of the femoral components demonstrated distal bone hypertrophy suggesting compressive load bearing. None of the femoral components migrated or sank. PMID:2912617

  1. Coincidence, historical repetition, and self-knowledge: Jung, Vico, and Joyce.

    PubMed

    Verene, Donald Phillip

    2002-07-01

    Jung develops synchronicity as an a causal principle of connection by recounting various examples of meaningful coincidence from experience and by analysing various systems of divination, notably the I Ching. Philosophical theory of causality has given no significant attention to synchronicity; the events of synchronicity are regarded as chance. The Neapolitan philosopher Giambattista Vico (1668-1744) developed a doctrine of historical experience and of self-knowledge that grounds the phenomenon of synchronicity in a metaphysics. James Joyce employed Vico's conception of language and historical cycles as the basis of Joyce's final literary work, Finnegans Wake. Vico's metaphysical sense of synchronicity and Joyce's literary formulation offer a grounding of this principle in non-divinatory sources in modern Western thought, something which Jung's discussion does not provide. These philosophical and literary perspectives complement Jung's to offer an expanded context in which to recognize synchronicity and to make sense of it. PMID:12174547

  2. On the Micromechanisms of Anomalous Slip in BCC Metals

    SciTech Connect

    Hsiung, L L

    2005-09-06

    Dislocation substructures developed in high-purity Mo single crystals deformed under uniaxial compression at room temperature to a total strain of {approx} 0.5% with a strain rate of 1 s{sup -1} have been investigated using transmission electron microscopy (TEM) techniques in order to elucidate the underlying micromechanisms of the anomalous operation of {l_brace}0{bar 1}1{r_brace} slip systems, i.e. Schmid-law violation, in bcc metals. The crystals were oriented with the stress axis parallel to a nominal single-slip orientation of [{bar 2}920], in which the ({bar 1}01)[111] slip system is the only system having a maximum value of Schmid factor (m = 0.5). Nevertheless, the recorded stress-strain curve reveals no single-slip or easy-glide stage, and the anomalous slip occurs in both (011) and (0{bar 1}1) planes. TEM examination of the dislocation structure in the ({bar 1}01) primary slip plane reveals that in addition to the operation of the ({bar 1}01)[111] slip system, the coplanar ({bar 1}01)[1{bar 1}1] slip system that has a much smaller Schmid factor (m = 0.167) is also operative. Similarly, the (0{bar 1}1)[111] slip system (m = 0.25) is cooperative with the coplanar (0{bar 1}1)[{bar 1}11] system (m = 0.287), and the (011)[1{bar 1}1] slip system (m = 0.222) is cooperative with the coplanar (011)[11{bar 1}] system (m = 0.32). The occurrence of {l_brace}0{bar 1}1{r_brace} anomalous slip is accordingly proposed to be initiated from the cooperative dislocation multiplication and mutual trapping and blocking of 1/2[111] and 1/2[1{bar 1}1] coplanar dislocation arrays in the ({bar 1}01) plane. The resulted internal stresses render the propagation of both 1/2[111] and 1/2[1{bar 1}1] screw dislocations from the ({bar 1}01) plane onto the {l_brace}0{bar 1}1{r_brace} planes and subsequently result in the occurrence of anomalous slip.

  3. Ultrasound of Primary Aneurysmal Bone Cyst

    PubMed Central

    Glazebrook, Katrina N.; Keeney, Gary L.; Rock, Michael G.

    2014-01-01

    Aneurysmal bone cysts (ABC) are rare, benign, expansile lesions of bone often found in the metaphyses of long bones in pediatric and young adult population. Multiple fluid levels are typically seen on imaging with magnetic resonance imaging (MRI) or computed tomography (CT). We describe a case of a primary ABC in the fibula of a 34-year-old man diagnosed on ultrasound with a mobile fluid level demonstrated sonographically. PMID:24587935

  4. The Philosophy of Fields and Particles in Classical and Quantum Mechanics, Including the Problem of Renormalisation.

    NASA Astrophysics Data System (ADS)

    Huggett, Nick

    1995-01-01

    This work first explicates the philosophy of classical and quantum fields and particles. I am interested in determining how science can have a metaphysical dimension, and then with the claim that the quantum revolution has an important metaphysical component. I argue that the metaphysical implications of a theory are properties of its models, as classical mechanics determines properties of atomic diversity and temporal continuity with its representations of distinct, continuous trajectories. It is often suggested that classical statistical physics requires that many particle states be represented so that permuting properties leads to distinct states; this implies that individuals can be reidentified across possible worlds in a non-qualitative way. I show there is no evidence for this conclusion, an important result, for it is claimed that quantum particles are not individuals. This claim is based on the misconception about classical statistics, but also on a conflation of notions of identity; I show that, while transworld identity is incompatible with quantum mechanics, other classical notions may be consistently ascribed. I also give a field-particle distinction that applies usefully in both quantum and classical domains. In the former the distinction helps defeat claims of underdetermined by data, in the latter it helps provide a minimal field metaphysics. Next I tackle renormalisation: I show how divergences occur in approximate, perturbative calculations, and demonstrate how finite, empirically verified, answers are obtained. These techniques seem to show that the predictions are not logical consequences of the exact theory. I use the techniques of the renormalisation group to establish that perturbative renormalised quantum field theory does indeed approximate the consequences of field theory. Finally, I discuss the idea (Cao and Schweber, 1994) that renormalisation proves that there can be no quantum theory of everything, only a patchwork of effective

  5. Total and local X-radiation effects on 18F uptake of bones.

    PubMed

    Ubios, A M; de Aisenberg, E Y; Cabrini, R L

    1978-02-01

    Flourine uptake in rat bones under local and total-body X-irradiation was studied. Data were obtained by measurements with a scintillation crystal counter and in the case of limbs by means of macro and microautoradiographies. The autoradiographic studies showed a higher concentration of the isotope in the metaphyseal area of the endochondral plate. Irradiation produced a depression of 18F uptake in both cases. An alteration in the mineralization mechanism due to irradiation is presumed. PMID:628936

  6. Chondromyxoid Fibroma: An Unusual Tumour at An Atypical Location

    PubMed Central

    Patil, Mallikarjuna Devaredappa; Govindarajan, Abhay Kumar

    2015-01-01

    Rib tumours are mostly secondaries arising from breast or prostrate malignancies. Among primary rib tumours, osteochondromas are reported as the commonest cause. Chondromyxoid fibromas are primary benign rib tumours that are seldom seen, occurring almost exclusively at the metaphyseal ends of large tubular bones. Here a case of chondromyxoid fibroma of rib, its clinical and radiological features, management and prognosis, is discussed which has only an occasional mention in literature. PMID:26393192

  7. Long-term Bone Remodeling in HA-coated Stems: A Radiographic Review of 208 Total Hip Arthroplasties (THAs) with 15 to 20 Years Follow-up.

    PubMed

    Boldt, Jens G; Cartillier, Jean-Claude; Machenaud, Alain; Vidalain, Jean-Pierre

    2015-11-01

    We present a prospective study focused on radiographic long-term outcomes and bone remodeling at a mean of 17.0 years (range: 15 to 20) in 208 cementless fully HA-coated femoral stems (Corail, DePuy International Ltd, Leeds, UK). Total hip replacements in this study were performed by three members of the surgeon design group between 1986 and 1991. Radiographic evaluation focused on periprosthetic osteolysis, bone remodeling, osseous integration, subsidence, metaphyseal or diaphyseal load transfer, and femoral stress shielding. The radiographs were digitized and examined with contrast-enhancing software for analysis of the trabecular architecture. Radiographic signs of aseptic stem loosening were visible in two cases (1%). Three stems (1.4%) showed metaphyseal periprosthetic osteolysis in four of seven Gruen zones associated with eccentric polyethylene wear awaiting metaphyseal bone grafting and cup liner exchange. One stem (0.5%) was revised due to infection. No stem altered in varus or valgus alignment more than two degrees, and mean subsidence was 0.1 mm (range: 0 to 2 mm) after a mean of 17.0 years. A total of 5 stems (2.4%) required or are awaiting revision surgery. Trabecular orientation and micro-anatomy suggested main proximal load-transfer patterns in all except 3 cases (98.6%). Combined metaphyseal and diaphyseal osseointegration and bone remodeling were visible in 100 stems (48%). Diaphyseal stress shielding and cortical thickening were observed in 3 stems (1.4%). Other radiographic features are discussed in depth. This long-term study of 208 fully HA-coated Corail stems showed satisfactory osseointegration and fixation in 203 cases (97.6%) after a mean of 17.0 years follow-up. Stem failures were associated with extreme eccentric polyethylene wear. PMID:26680411

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

    NASA Technical Reports Server (NTRS)

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

    1980-01-01

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

  9. Surgical correction of brachymetatarsia.

    PubMed

    Bartolomei, F J

    1990-02-01

    Brachymetatarsia describes the condition of an abnormally short metatarsal. Although the condition has been recorded since antiquity, surgical options to correct the deformity have been available for only two decades. Most published procedures involve metaphyseal lengthening with autogenous grafts from different donor sites. The author discusses one such surgical technique. In addition, the author proposes specific criteria for the objective diagnosis of brachymetatarsia. PMID:2406417

  10. Chondromyxoid fibroma of the second rib.

    PubMed

    Long, Kristin L; Absher, Kimberly J; Draus, John M

    2013-06-01

    Chondromyxoid fibromas are benign tumors which are found most frequently in the metaphyses of long bones. They comprise less than 1% of primary bone neoplasms and display a hypermetabolic appearance on PET imaging. Oftentimes, they are misdiagnosed as chondrosarcomas and are excised due to concern for malignancy. We present a case of a condromyxoid fibroma originating from the second rib of a 15-year-old girl. PMID:23845646

  11. Being and Sign in the "Enneads"

    ERIC Educational Resources Information Center

    Tomulet, Daniel

    2010-01-01

    The intention of this work is to show that Plotinus' metaphysics, his theory of Intellect, can be interpreted as a philosophy of the sign. The fact that Plotinus describes Intellect, the world of real beings, as a sign or a trace of the One is well-known, and we use this aspect in our work. However, what is even more important from our perspective…

  12. A reappraisal of herbal medicinal products.

    PubMed

    Edwards, Sarah; Da-Costa-Rocha, Ines; Lawrence, M Jayne; Cable, Colin; Heinrich, Michael

    Complementary and alternative medicine is increasingly popular, and encompasses a number of systems and therapies based on diverse theories and practices, such as homoeopathy, traditional herbalism, reiki, ayurvedic medicine and traditional Chinese medicine. While many are based on metaphysical concepts for which there is no sound evidence, for herbal medicines there is a rational, scientific basis and increasing clinical evidence. This article suggests herbal medicines should no longer be considered part of CAM, but instead sit alongside conventional medicines. PMID:23155905

  13. Should the patient be allowed to die? 1

    PubMed Central

    Nicholson, Richard

    1975-01-01

    In considering the patient's right to a certain quality of dying, this essay outlines how the legal and ethical justifications for passive euthanasia depend on the doctrine of acts and omissions. It is suggested that this doctrine is untenable and that alternative justifications are needed. The development of the modern mechanistic approach to death is traced, showing that a possible basis for an humane way of death lies in a reacceptance of a metaphysical concept of life. PMID:1100831

  14. The Erlenmeyer Flask Bone Deformity in the Skeletal Dysplasias

    PubMed Central

    Faden, Maha A.; Krakow, Deborah; Ezgu, Fatih; Rimoin, David L.; Lachman, Ralph S.

    2010-01-01

    Erlenmeyer flask bone deformity (EFD) is a long-standing term used to describe a specific abnormality of the distal femora. The deformity consists of lack of modeling of the di-metaphysis with abnormal cortical thinning and lack of the concave di-metaphyseal curve resulting in an Erlenmeyer flask-like appearance. Utilizing a literature review and cohort study of 12 disorders we found 20 distinct disorders were associated with EFD. We interrogated the International Skeletal Dysplasia Registry (ISDR) radiographic database (1988–2007) to determine which skeletal dysplasias or syndromes were highly associated with EFD, whether it was a uniform finding in these disorders, and if forms of EFD could be differentiated. EFD was classified into three groups. The first catogory was the typical EFD shaped bone (EFD-T) resultant from absent normal di-metaphyseal modeling with relatively normal appearing radiographic trabecular bone. EFD-T was identified in: frontometaphyseal dysplasia, craniometaphyseal dysplasia, craniodiaphyseal dysplasia, diaphyseal dysplasia-Engelmann type, metaphyseal dysplasia-Pyle type, Melnick–Needles osteodysplasty, and otopalatodigital syndrome type I. The second group was the atypical type (EFD-A) due to absence of normal di-metaphyseal modeling with abnormal radiographic appearance of trabecular bone and was seen in dysosteosclerosis and osteopetrosis. The third group was EFD-marrow expansion type (EFD-ME) in which bone marrow hyperplasia or infiltration leads to abnormal modeling (e.g., Gaucher disease). Further, radiographic review determined that it was not always a consistent finding and that there was variability in both appearance and location within the skeleton. This analysis and classification aided in differentiating disorders with the finding of EFD. PMID:19444897

  15. Rowlands' Duality Principle: A Generalization of Noether's Theorem?

    NASA Astrophysics Data System (ADS)

    Karam, Sabah E.

    This paper will examine a physical principle that has been used in making valid predictions and generalizes established conservation laws. In a previous paper it was shown how Rowlands' zero-totality condition could be viewed as a generalization of Newton's third law of motion. In this paper it will be argued that Rowlands' Duality Principle is a generalization of Noether's Theorem and that the two principles taken together are truly foundational principles that have tamed Metaphysics.

  16. Fluid convection, constraint and causation

    PubMed Central

    Bishop, Robert C.

    2012-01-01

    Complexity—nonlinear dynamics for my purposes in this essay—is rich with metaphysical and epistemological implications but is receiving sustained philosophical analysis only recently. I will explore some of the subtleties of causation and constraint in Rayleigh–Bénard convection as an example of a complex phenomenon, and extract some lessons for further philosophical reflection on top-down constraint and causation particularly with respect to causal foundationalism. PMID:23386955

  17. Experiment K305: Quantitative analysis of selected bone parameters. Supplement 3B: Mineralization in the long bones

    NASA Technical Reports Server (NTRS)

    Matthews, J. L.

    1981-01-01

    Electron microscope and optical birefringent studies of growth plates and metaphyseal trabeculae are described. The type and functional state of bone cells were investigated and the zone of calcification of the cartilagenous growth plate, particularly the presence and condition of matrix vesicles, was characterized. Trabecular number, size, and orientation were assessed. Comparisons with a control group, indicating changes resulting from a zero gravity situation, are presented.

  18. Brodie's abscess of the femoral neck simulating osteoid osteoma.

    PubMed

    Gulati, Yash; Maheshwari, Aditya V

    2007-10-01

    Subacute osteomyelitis (Brodie's abscess) is essentially a problem of diagnosis, and there may be considerable difficulty in distinguishing it from other benign and malignant bone lesions. Though reported in the metaphyseal region of the femur, Brodie's abscess is rarer in the femoral neck. The authors present a case of Brodie's abscess in the femoral neck, which clinico-radiologically simulated an osteoid osteoma. Retrospectively, the presence of a cortical sinus tract should have aroused suspicion.

  19. Bilateral Brodie's abscess at the proximal tibia.

    PubMed

    Buldu, Halil; Bilen, Fikri Erkal; Eralp, Levent; Kocaoglu, Mehmet

    2012-08-01

    Brodie's abscess is a form of subacute osteomyelitis, which typically involves the metaphyses of the long tubular bones, particularly in the tibia. The diagnosis is usually made incidentally, as there are no accompanying symptoms or laboratory studies. Bilateral involvement at the proximal tibia is unusual. However, orthopaedic surgeons should be aware of this entity, as it may present without symptoms. Checking the contralateral limb for concomitant Brodie's abscess is recommended.

  20. The afterlife of embryonic persons: what a strange place heaven must be.

    PubMed

    Murphy, Timothy F

    2012-12-01

    Some commentators argue that conception constitutes the onset of human personhood in a metaphysical sense. This threshold is usually invoked as the basis both for protecting zygotes and embryos from exposure to risks of death in clinical research and fertility medicine and for objecting to abortion, but it also has consequences for certain religious perspectives, including Catholicism whose doctrines directly engage questions of personhood and its meanings. Since more human zygotes and embryos are lost than survive to birth, conferral of personhood on them would mean - for those believing in personal immortality - that these persons constitute the majority of people living immortally despite having had only the shortest of earthly lives. For those believing in resurrection, zygotes and embryos would also be restored to physical lives. These outcomes do not mean that conception cannot function as a metaphysical threshold of personhood, but this interpretation carries costs that others do not. For example, treating conception as a moral threshold of respect for human life in general, rather than as a metaphysical threshold of personhood, would obviate the prospect of the afterlife being populated in the main by persons who have never lived more than a few hours or days. PMID:23063818

  1. A Thomistic defense of whole-brain death

    PubMed Central

    Eberl, Jason T.

    2015-01-01

    Michel Accad critiques the currently accepted whole-brain criterion for determining the death of a human being from a Thomistic metaphysical perspective and, in so doing, raises objections to a particular argument defending the whole-brain criterion by Patrick Lee and Germain Grisez. In this paper, I will respond to Accad's critique of the whole-brain criterion and defend its continued validity as a criterion for determining when a human being's death has occurred in accord with Thomistic metaphysical principles. I will, however, join Accad in criticizing Lee and Grisez's proposed defense of the whole-brain criterion as potentially leading to erroneous conclusions regarding the determination of human death. Lay summary: Catholic physicians and bioethicists currently debate the legally accepted clinical standard for determining when a human being has died—known as the “wholebrain criterion”—which has also been morally affirmed by the Magisterium. This paper responds to physician Michel Accad’s critique of the whole-brain criterion based upon St. Thomas Aquinas’s metaphysical account of human nature as a union of a rational soul and a material body. I defend the whole-brain criterion from the same Thomistic philosophical perspective, while agreeing with Accad’s objection to an alternative Thomistic defense of whole-brain death by philosophers Patrick Lee and Germain Grisez. PMID:26912933

  2. Cosmos 1887: morphology, histochemistry, and vasculature of the growing rat tibia

    NASA Technical Reports Server (NTRS)

    Doty, S. B.; Morey-Holton, E. R.; Durnova, G. N.; Kaplansky, A. S.

    1990-01-01

    Light microscopy, electron microscopy, and enzyme histochemistry were used to study the effects of spaceflight on metaphyseal and cortical bone of the rat tibia. Cortical cross-sectional area and perimeter were not altered by a 12.5-day spaceflight in 3-month-old male rats. The endosteal osteoblast population and the vasculature near the periosteal surface in flight rats compared with ground controls showed more pronounced changes in cortical bone than in metaphyseal bone. The osteoblasts demonstrated greater numbers of transitional Golgi vesicles, possibly caused by a decreased cellular metabolic energy source, but no difference in the large Golgi saccules or the cell membrane-associated alkaline phosphatase activity. The periosteal vasculature in the diaphysis of flight rats often showed lipid accumulations within the lumen of the vessels, occasional degeneration of the vascular wall, and degeneration of osteocytes adjacent to vessels containing intraluminal deposits. These changes were not found in the metaphyseal region of flight animals. The focal vascular changes may be due to ischemia of bone or a developing fragility of the vessel walls as a result of spaceflight.

  3. Skeletal abnormalities in rats induced by simulated weightlessness

    NASA Technical Reports Server (NTRS)

    Wronski, T. J.; Morey, E. R.

    1982-01-01

    A hypokinetic model has been developed which attempts to simulate the weightlessness experienced during space flight. Male rats were suspended from the model with a head-down tilt for a two-week period. Total mechanical unloading of the hind limbs and partial unloading of the fore limbs occurred. In comparison to pair-fed control rats, the skeletal alterations in the proximal tibial and humeral metaphyses of suspended rats were determined to be a diminished rate of longitudinal bone growth, a reduced mass of mineralized tissue, and an accumulation of marrow fat. Also, suspended rats exhibited decreased numbers of osteoblasts and increased numbers of osteoclasts immediately adjacent to the growth plate-metaphyseal junction at both skeletal sites. Although the reduction in mineralized tissue and the fat accumulation were more marked in the tibia, the skeletal changes in the proximal tibial and humeral metaphyses were generally comparable. The observed abnormalities may be due to mechanical unloading and/or a hypersecretion of corticosteroids.

  4. The principle of least action as the logical empiricist's Shibboleth

    NASA Astrophysics Data System (ADS)

    Stöltzner, Michael

    The present paper investigates why logical empiricists remained silent about one of the most philosophy-laden matters of theoretical physics of their day, the principle of least action (PLA). In the two decades around 1900, the PLA enjoyed a remarkable renaissance as a formal unification of mechanics, electrodynamics, thermodynamics, and relativity theory. Taking Ernst Mach's historico-critical stance, it could be liberated from much of its physico-theological dross. Variational calculus, the mathematical discipline on which the PLA was based, obtained a new rigorous basis. These three developments prompted Max Planck to consider the PLA as formal embodiment of his convergent realist methodology. Typically rejecting ontological reductionism, David Hilbert took the PLA as the key concept in his axiomatizations of physical theories. It served one of the main goals of the axiomatic method: "deepening the foundations." Although Moritz Schlick was a student of Planck's, and Hans Hahn and Philipp Frank enjoyed close ties to Göttingen, the PLA became a veritable Shibboleth to them. Rather than being worried by its historical connections with teleology and determinism, they erroneously identified Hilbert's axiomatic method tout court with Planck's metaphysical realism. Logical empiricists' strict containment policy against metaphysics required so strict a separation between physics and mathematics to exclude even those features of the PLA and the axiomatic method not tainted with metaphysics.

  5. Potential Effects of Phytoestrogen Genistein in Modulating Acute Methotrexate Chemotherapy-Induced Osteoclastogenesis and Bone Damage in Rats.

    PubMed

    King, Tristan J; Shandala, Tetyana; Lee, Alice M; Foster, Bruce K; Chen, Ke-Ming; Howe, Peter R; Xian, Cory J

    2015-08-06

    Chemotherapy-induced bone damage is a frequent side effect which causes diminished bone mineral density and fracture in childhood cancer sufferers and survivors. The intensified use of anti-metabolite methotrexate (MTX) and other cytotoxic drugs has led to the need for a mechanistic understanding of chemotherapy-induced bone loss and for the development of protective treatments. Using a young rat MTX-induced bone loss model, we investigated potential bone protective effects of phytoestrogen genistein. Oral gavages of genistein (20 mg/kg) were administered daily, for seven days before, five days during, and three days after five once-daily injections (sc) of MTX (0.75 mg/kg). MTX treatment reduced body weight gain and tibial metaphyseal trabecular bone volume (p < 0.001), increased osteoclast density on the trabecular bone surface (p < 0.05), and increased the bone marrow adipocyte number in lower metaphyseal bone (p < 0.001). Genistein supplementation preserved body weight gain (p < 0.05) and inhibited ex vivo osteoclast formation of bone marrow cells from MTX-treated rats (p < 0.001). However, MTX-induced changes in bone volume, trabecular architecture, metaphyseal mRNA expression of pro-osteoclastogenic cytokines, and marrow adiposity were not significantly affected by the co-administration of genistein. This study suggests that genistein may suppress MTX-induced osteoclastogenesis; however, further studies are required to examine its potential in protecting against MTX chemotherapy-induced bone damage.

  6. Must Metaethical Realism Make a Semantic Claim?

    PubMed Central

    Kahane, Guy

    2012-01-01

    Mackie drew attention to the distinct semantic and metaphysical claims made by meta ethical realists, arguing that although our evaluative discourse is cognitive and objective, there are no objective evaluative facts. This distinction, however, also opens up a reverse possibility: that our evaluative discourse is antirealist, yet objective values do exist. I suggest that this seemingly far-fetched possibility merits serious attention; realism seems com mitted to its intelligibility, and, despite appearances, it isn’t incoherent, ineffable, inherently implausible or impossible to defend. I argue that reflection on this possibility should lead us to revise our understanding of the debate between realists and antirealists. It is not only that the realist’s semantic claim is insufficient for realism to be true, as Mackie argued; it’s not even necessary. Robust metaethical realism is best understood as making a purely metaphysical claim. It is thus not enough for antirealists to show that our discourse is antirealist. They must directly attack the realist’s metaphysical claim. PMID:23525148

  7. The afterlife of embryonic persons: what a strange place heaven must be.

    PubMed

    Murphy, Timothy F

    2012-12-01

    Some commentators argue that conception constitutes the onset of human personhood in a metaphysical sense. This threshold is usually invoked as the basis both for protecting zygotes and embryos from exposure to risks of death in clinical research and fertility medicine and for objecting to abortion, but it also has consequences for certain religious perspectives, including Catholicism whose doctrines directly engage questions of personhood and its meanings. Since more human zygotes and embryos are lost than survive to birth, conferral of personhood on them would mean - for those believing in personal immortality - that these persons constitute the majority of people living immortally despite having had only the shortest of earthly lives. For those believing in resurrection, zygotes and embryos would also be restored to physical lives. These outcomes do not mean that conception cannot function as a metaphysical threshold of personhood, but this interpretation carries costs that others do not. For example, treating conception as a moral threshold of respect for human life in general, rather than as a metaphysical threshold of personhood, would obviate the prospect of the afterlife being populated in the main by persons who have never lived more than a few hours or days.

  8. Value of Fundamental Science

    NASA Astrophysics Data System (ADS)

    Burov, Alexey

    Fundamental science is a hard, long-term human adventure that has required high devotion and social support, especially significant in our epoch of Mega-science. The measure of this devotion and this support expresses the real value of the fundamental science in public opinion. Why does fundamental science have value? What determines its strength and what endangers it? The dominant answer is that the value of science arises out of curiosity and is supported by the technological progress. Is this really a good, astute answer? When trying to attract public support, we talk about the ``mystery of the universe''. Why do these words sound so attractive? What is implied by and what is incompatible with them? More than two centuries ago, Immanuel Kant asserted an inseparable entanglement between ethics and metaphysics. Thus, we may ask: which metaphysics supports the value of scientific cognition, and which does not? Should we continue to neglect the dependence of value of pure science on metaphysics? If not, how can this issue be addressed in the public outreach? Is the public alienated by one or another message coming from the face of science? What does it mean to be politically correct in this sort of discussion?

  9. Spontaneous rickets in the wild arctic fox Alopex lagopus

    SciTech Connect

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

    1981-10-01

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

  10. Sinusoidal electromagnetic fields promote bone formation and inhibit bone resorption in rat femoral tissues in vitro.

    PubMed

    Zhou, Jian; Ma, Xiao-Ni; Gao, Yu-Hai; Yan, Juan-Li; Shi, Wen-Gui; Xian, Cory J; Chen, Ke-Ming

    2016-01-01

    Effects of sinusoidal electromagnetic fields (SEMFs) on bone metabolism have not yet been well defined. The present study investigated SEMF effects on bone formation and resorption in rat femur bone tissues in vitro. Cultured femur diaphyseal (cortical bone) and metaphyseal (trabecular bone) tissues were treated with 50 Hz 1.8 mT SEMFs 1.5 h per day for up to 12 days and treatment effects on bone formation and resorption markers and associated gene expression were examined. Treatment with SEMFs caused a significant increase in alkaline phosphatase (ALP) activity and inhibited the tartrate-resistant acid phosphatase (TRACP) activity in the femoral diaphyseal or metaphyseal tissues. SEMFs also significantly increased levels of mRNA expression of osterix (OSX), insulin-like growth factor (IGF-1) and ALP in the bone tissues. SEMF treatment decreased glucose content and increased lactic acid contents in the culture conditioned medium. In addition, treatment with SEMFs decreased mRNA expression levels of bone resorption-related genes TRACP, macrophage colony stimulating factor (M-CSF) and cathepsin K (CTSK) in the cultured bone tissues. In conclusion, the current study demonstrated that treatment with 1.8 mT SEMFs at 1.5 h per day promoted bone formation, increased metabolism and inhibited resorption in both metaphyseal and diaphyseal bone tissues in vitro.

  11. Does Science Presuppose Naturalism (or Anything at All)?

    NASA Astrophysics Data System (ADS)

    Fishman, Yonatan I.; Boudry, Maarten

    2013-05-01

    Several scientists, scientific institutions, and philosophers have argued that science is committed to Methodological Naturalism (MN), the view that science, by virtue of its methods, is limited to studying `natural' phenomena and cannot consider or evaluate hypotheses that refer to supernatural entities. While they may in fact exist, gods, ghosts, spirits, and extrasensory or psi phenomena are inherently outside the domain of scientific investigation. Recently, Mahner (Sci Educ 3:357-371, 2012) has taken this position one step further, proposing the more radical view that science presupposes an a priori commitment not just to MN, but also to ontological naturalism (ON), the metaphysical thesis that supernatural entities and phenomena do not exist. Here, we argue that science presupposes neither MN nor ON and that science can indeed investigate supernatural hypotheses via standard methodological approaches used to evaluate any `non-supernatural' claim. Science, at least ideally, is committed to the pursuit of truth about the nature of reality, whatever it may be, and hence cannot exclude the existence of the supernatural a priori, be it on methodological or metaphysical grounds, without artificially limiting its scope and power. Hypotheses referring to the supernatural or paranormal should be rejected not because they violate alleged a priori methodological or metaphysical presuppositions of the scientific enterprise, but rather because they fail to satisfy basic explanatory criteria, such as explanatory power and parsimony, which are routinely considered when evaluating claims in science and everyday life. Implications of our view for science education are discussed.

  12. The ultimate question of origins: God and the beginning of the Universe.

    NASA Astrophysics Data System (ADS)

    Craig, W. L.

    Both cosmology and philosophy trace their roots to the wonder felt by the ancient Greeks as they contemplated the Universe. The ultimate question remains why the Universe exists rather than nothing. This question led Leibniz to postulate the existence of a metaphysically necessary being, which he identified as God. Leibniz's critics, however, disputed this identification, claiming that the space-time universe itself may be the metaphysically necessary being. The discovery during this century that the Universe began to exist, however, calls into question the Universe's status as metaphysically necessary, since any necessary being must be eternal in its existence. Although various cosmogonic models claiming to avert the beginning of the Universe predicted by the standard model have been and continue to be offered, no model involving an eternal universe has proved as plausible as the standard model. Unless we are to assert that the Universe simply sprang into being uncaused out of nothing, we are thus led to Leibniz's conclusion. Several objections to inferring a supernatural cause of the origin of the Universe are considered and found to be unsound.

  13. The Ultimate Question of Origins: God and the Beginning of the Universe

    NASA Astrophysics Data System (ADS)

    Craig, William Lane

    1999-12-01

    Both cosmology and philosophy trace their roots to the wonder felt by the ancient Greeks as they contemplated the universe. The ultimate question remains why the universe exists rather than nothing. This question led Leibniz to postulate the existence of a metaphysically necessary being, which he identified as God. Leibniz's critics, however, disputed this identification, claiming that the space-time universe itself may be the metaphysically necessary being. The discovery during this century that the universe began to exist, however, calls into question the universe's status as metaphysically necessary, since any necessary being must be eternal in its existence. Although various cosmogonic models claiming to avert the beginning of the universe predicted by the standard model have been and continue to be offered, no model involving an eternal universe has proved as plausible as the standard model. Unless we are to assert that the universe simply sprang into being uncaused out of nothing, we are thus led to Leibniz's conclusion. Several objections to inferring a supernatural cause of the origin of the universe are considered and found to be unsound.

  14. Interrogating personhood and dementia

    PubMed Central

    Higgs, Paul; Gilleard, Chris

    2016-01-01

    ABSTRACT Objectives: To interrogate the concept of personhood and its application to care practices for people with dementia. Method: We outline the work of Tom Kitwood on personhood and relate this to conceptualisations of personhood in metaphysics and in moral philosophy. Results: The philosophical concept of personhood has a long history. The metaphysical tradition examines the necessary and sufficient qualities that make up personhood such as agency, consciousness, identity, rationality and second-order reflexivity. Alternative viewpoints treat personhood as a matter of degree rather than as a superordinate category. Within moral philosophy personhood is treated as a moral status applicable to some or to all human beings. Conclusion: In the light of the multiple meanings attached to the term in both metaphysics and moral philosophy, personhood is a relatively unhelpful concept to act as the foundation for developing models and standards of care for people with dementia. Care, we suggest, should concentrate less on ambiguous and somewhat abstract terms such as personhood and focus instead on supporting people's existing capabilities, while minimising the harmful consequences of their incapacities. PMID:26708149

  15. Prebending of a titanium elastic intramedullary nail in the treatment of distal radius fractures in children.

    PubMed

    Cai, Haoqi; Wang, Zhigang; Cai, Haiqing

    2014-01-01

    The aims of this study were to introduce a method to treat distal radius diaphyseal metaphyseal junction fractures by prebending an elastic intramedullary nail and to evaluate the factors influencing fracture apposition. Fifty-two consecutive patients (4 to 15 years old) with a distal radius diaphyseal metaphyseal junction fracture were included. The nail was inserted and advanced into the proximal radial fragment as normal. After bending the nail distally about 90° at the site predetermined to lie at the distal segment, the elastic intramedullary nail was advanced until the prebent part completely entered the marrow cavity. The fracture angular deformity was fully corrected in anterior-posterior and lateral views. The apposition rate was 90% to 100% in lateral view, >50% in anterior-posterior view. The operation time was 16.73 ± 6.253 minutes. The average time of fracture healing was 5 months (range, 4-7 months). During 12 to 19 months of follow-up, firm fracture healing and good remodeling were observed, and there was no impaired forearm rotation function or secondary fracture. Our study showed the treatment of distal radius diaphyseal metaphyseal junction fractures by prebent intramedullary nail could make up for the deficiency of Kirschner wires and steel plates and keep the fracture stable. Fracture type and the anatomical features of the distal radius were associated with fracture apposition. PMID:24833151

  16. Inter-trabecular bone formation: a specific mechanism for healing of cancellous bone

    PubMed Central

    Sandberg, Olof H; Aspenberg, Per

    2016-01-01

    Background and purpose Studies of fracture healing have mainly dealt with shaft fractures, both experimentally and clinically. In contrast, most patients have metaphyseal fractures. There is an increasing awareness that metaphyseal fractures heal partly through mechanisms specific to cancellous bone. Several new models for the study of cancellous bone healing have recently been presented. This review summarizes our current knowledge of cancellous fracture healing. Methods We performed a review of the literature after doing a systematic literature search. Results Cancellous bone appears to heal mainly via direct, membranous bone formation that occurs freely in the marrow, probably mostly arising from local stem cells. This mechanism appears to be specific for cancellous bone, and could be named inter-trabecular bone formation. This kind of bone formation is spatially restricted and does not extend more than a few mm outside the injured region. Usually no cartilage is seen, although external callus and cartilage formation can be induced in meta­physeal fractures by mechanical instability. Inter-trabecular bone formation seems to be less sensitive to anti-inflammatory treatment than shaft fractures. Interpretation The unique characteristics of inter-trabecular bone formation in metaphyseal fractures can lead to differences from shaft healing regarding the effects of age, loading, or drug treatment. This casts doubt on generalizations about fracture healing based solely on shaft fracture models. PMID:27357416

  17. Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia

    PubMed Central

    Krakow, Deborah; Vriens, Joris; Camacho, Natalia; Luong, Phi; Deixler, Hannah; Funari, Tara L.; Bacino, Carlos A.; Irons, Mira B.; Holm, Ingrid A.; Sadler, Laurie; Okenfuss, Ericka B.; Janssens, Annelies; Voets, Thomas; Rimoin, David L.; Lachman, Ralph S.; Nilius, Bernd; Cohn, Daniel H.

    2009-01-01

    The spondylometaphyseal dysplasias (SMDs) are a group of short-stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. SMD Kozlowski type (SMDK) is a well-defined autosomal-dominant SMD characterized by significant scoliosis and mild metaphyseal abnormalities in the pelvis. The vertebrae exhibit platyspondyly and overfaced pedicles similar to autosomal-dominant brachyolmia, which can result from heterozygosity for activating mutations in the gene encoding TRPV4, a calcium-permeable ion channel. Mutation analysis in six out of six patients with SMDK demonstrated heterozygosity for missense mutations in TRPV4, and one mutation, predicting a R594H substitution, was recurrent in four patients. Similar to autosomal-dominant brachyolmia, the mutations altered basal calcium channel activity in vitro. Metatropic dysplasia is another SMD that has been proposed to have both clinical and genetic heterogeneity. Patients with the nonlethal form of metatropic dysplasia present with a progressive scoliosis, widespread metaphyseal involvement of the appendicular skeleton, and carpal ossification delay. Because of some similar radiographic features between SMDK and metatropic dysplasia, TRPV4 was tested as a disease gene for nonlethal metatropic dysplasia. In two sporadic cases, heterozygosity for de novo missense mutations in TRPV4 was found. The findings demonstrate that mutations in TRPV4 produce a phenotypic spectrum of skeletal dysplasias from the mild autosomal-dominant brachyolmia to SMDK to autosomal-dominant metatropic dysplasia, suggesting that these disorders should be grouped into a new bone dysplasia family. PMID:19232556

  18. A comparative study of Burakovsky's and Jacobs's volume dependence Grüneisen parameter for fcc aluminum

    NASA Astrophysics Data System (ADS)

    Nie, Chuanhui; Zong, Baochun; Wang, Junping

    2015-07-01

    We compare two expressions for the volume dependence of the Grüneisen parameter γ for fcc Al presented by Burakovsky and Preston (2004) [3] and Jacobs and Schmid-Fetzer (2010) [4], respectively. It's found that both calculated results of the melting temperature Tm are in good agreement with experimental data. But the higher order Grüneisen parameters are different. We obtain the values of the third order Grüneisen parameter λ∞ and the pressure derivative of bulk modulus K‧∞ at extreme pressure, and the parameter f in the generalized free volume formula for the two models. The results show that the Jacobs's expression of Grüneisen parameter is more suitable for fcc Al.

  19. Single crystal plastic behavior of a single-phase, face-center-cubic-structured, equiatomic FeNiCrCo alloy

    DOE PAGESBeta

    Wu, Zhenggang; Gao, Y. F.; Bei, Hongbin

    2015-07-25

    To understand the fundamental deformation mechanisms of compositionally complex alloys, single crystals of a multi-component equiatomic FeNiCoCr alloy with face-centered cubic (FCC) structure were grown for mechanical studies. Similarly to typical FCC pure metals, slip trace analyses indicate that dislocation slips take place on (1 1 1) planes along [11¯0] directions. The critical resolved shear stress (CRSS) obeys the Schmid law at both 77 and 293 K, and tension–compression asymmetry is not observed. Although this material slips in a normal FCC manner both at 293 and 77 K, compared to typical FCC metals the CRSS’s strong temperature dependence is abnormal.

  20. Environment and economy: Property rights and public policy

    SciTech Connect

    Bromley, D.J.

    1991-01-01

    For much of its history, environmental economics has sought to modify public policy in order to achieve efficient use and management of environmental resources. The results of this attempt, however, have been dismaying for the most part, and environment public policy continues to differ from the course of action prescribed by economic analysis. Some economists have begun to acknowledge that the reasons for this gap between economic theory and public policy may lie in environmental economics itself rather than in poor policy choices. That is the message sent in this book by Daniel Bromley, who joins S.V. Ciriacy-Wantrup, Allan Schmid, and others in a strong internal critique of the discipline and, in particular, of the property rights school' of Coase, Demsetz, and other advocates of the market. Property rights are the common thread of this critique, which blames much of the failure of environmental economics to influence environmental policy on several fundamental misconceptions regarding property.

  1. Influence of grain orientations on the initiation of fatigue damage in an Al-Li alloy.

    PubMed

    Taylor; Zhai; Wilkinson; Martin

    1999-09-01

    The variation in microstructure and texture in a rectangular bar extruded from a billet of spray-cast 8090 Al-Li alloy has been examined. The fine grain size of the as sprayed billet and the moderate extrusion ratio ( approximately 25 : 1) were seen to cause geometric dynamic recrystallization (GDR) in regions of higher strain towards the edge of the bar. The grain morphology varied from the expected elongated grains at the centre of the bar to equiaxed grains where GDR occurred at the bar edges. A <111> + <100> double fibre texture, significantly distorted towards rolling components and varying through the bar thickness, was found using electron backscatter diffraction. Fatigue resulted in a high density of short secondary cracks, many of which had arrested at grain boundaries. The cracks preferentially nucleated in grains from the <100> fibre texture corresponding to high Schmid factors.

  2. The Observation of Highly Ordered Domains in Membranes with Cholesterol

    SciTech Connect

    Armstrong, Clare L; Marquardt, Drew; Dies, Hannah; Kucerka, Norbert; Yamani, Zahra; Harroun, Thad; Katsaras, John; Shi, A-C; Rheinstadter, Maikel C

    2013-01-01

    Rafts, or functional domains, are transient nano- or mesoscopic structures in the exoplasmic leaflet of the plasma membrane, and are thought to be essential for many cellular processes. Using neutron diffraction and computer modelling, we present evidence for the existence of highly ordered lipid domains in the cholesterol-rich (32.5 mol%) liquid-ordered (lo) phase of dipalmitoylphosphatidylcholine membranes. The liquid ordered phase in one-component lipid membranes has previously been thought to be a homogeneous phase. The presence of highly ordered lipid domains embedded in a disordered lipid matrix implies non-uniform distribution of cholesterol between the two phases. The experimental results are in excellent agreement with recent computer simulations of DPPC/cholesterol complexes [Meinhardt, Vink and Schmid (2013). Proc Natl Acad Sci USA 110(12): 4476 4481], which reported the existence of nanometer size lo domains in a liquid disordered lipid environment.

  3. Wood rats and kangaroo rats: potential reservoirs of the Lyme disease spirochete in California.

    PubMed

    Lane, R S; Brown, R N

    1991-05-01

    The etiologic agent of Lyme disease, Borrelia burgdorferi Johnson, Schmid, Hyde, Steigerwalt & Brenner, was isolated repeatedly from dusky-footed wood rats, Neotoma fuscipes Baird, and California kangaroo rats, Dipodomys californicus Merriam, in northern California. All animals were collected in a region endemic for Lyme disease but for which the natural reservoir of B. burgdorferi was unknown. Similar attempts to isolate spirochetes from lizards, other species of rodents, jack rabbits, and deer between 1987 and 1991 were unsuccessful. Spirochetes isolated from wood rats and kangaroo rats were antigenically similar to strains of B. burgdorferi that had been isolated previously from the western black-legged tick, Ixodes pacificus Cooley & Kohls, in California. Similar enzootic cycles involving wood rats or kangaroo rats should be sought in other regions of the United States where the reservoirs of this spirochete are unknown.

  4. TOF Electron Energy Analyzer for Spin and Angular Resolved Photoemission Spectroscopy

    NASA Astrophysics Data System (ADS)

    Lebedev, Gennadi; Jozwiak, Chris; Andresen, Nord; Hussain, Zahid; Lanzara, Alessandra

    2007-03-01

    Current pulsed laser and synchrotron x-ray sources provide new opportunities for Time-Of- Flight (TOF) based photoemission spectroscopy to increase photoelectron energy resolution and efficiency compared to current standard techniques. The principals of photoelectron timing front formation, temporal aberration minimization, and optimization of electron beam transmission are presented. We have developed these concepts into a high resolution a TOF Electron Energy Analyzer for photoemission spectroscopy. The electron optical scheme of the analyzer includes an electrostatic objective lens, three columns of transport lenses and a 90 degree energy band pass filter (BPF). High efficiency exchange scattering based spin polarimeter [1] is used for electron spin detection. The analyzer support two modes of operation: Spectrometer Mode allowing the entire spectrum to be measured, and Monochromator Mode in which the BPF passes a specified energy window inside the scope of the electron energy spectrum. [1] J. Graf, C. Jozwiak, A. K. Schmid, Z. Hussain, and A. Lanzara, Physical. Rev. B 71, 144429 (2005)

  5. Dynamic Dislocation Mechanisms For the Anomalous Slip in a Single-Crystal BCC Metal Oriented for "Single Slip"

    SciTech Connect

    Hsiung, L; La Cruz, C

    2007-01-11

    Dislocation substructures of high-purity Mo single crystals deformed under uniaxial compression at room temperature to an axial strain of 0.6% were investigated in order to elucidate the underlying mechanisms for the {l_brace}0{bar 1}1{r_brace} anomalous slip in bcc metals [1], which is also known as the violation of Schmid law [2]. The test sample was oriented with the stress axis parallel to a nominal ''single-slip'' orientation of [{bar 2} 9 20], in which ({bar 1}01) [111] is the primary slip system that has a maximum Schmid factor (m = 0.5), which requires the lowest stress to operate among the twelve {l_brace}{bar 1}10{r_brace} <111> slip systems. Nevertheless, the recorded stress-strain curve reveals no easy-glide or single-slip stage; work hardening starts immediately after yielding. Moreover, the result of slip trace analysis indicates the occurrence of anomalous slip on both the (011) and (0{bar 1}1) planes, which according to the Schmid law requires relatively higher stresses to operate. TEM examinations of dislocation structures formed on the (101) primary slip plane reveal that in addition to the ({bar 1}01) [111] slip system, the coplanar ({bar 1}01) [1{bar 1}1] slip system which has a much smaller Schmid factor (m = 0.167) is also operative. Similarly, (0{bar 1}1) [111] (m = 0.25) is cooperative with the coplanar (0{bar 1}1) [{bar 1}11] slip system (m = 0.287) on the (0{bar 1}1) slip plane, and (011) [1{bar 1}1] (m = 0.222) is cooperative with the coplanar (011) [11{bar 1}] slip system (m = 0.32) on the (011) plane. The occurrence of {l_brace}0{bar 1}1{r_brace} anomalous slip is accordingly proposed to be originated from the cooperative dislocation motion of the {+-} 1/2 [111] and {+-} 1/2 [1{bar 1}1] dislocations on the ({bar 1}01) slip plane; the mutual interaction and blocking of {+-} 1/2 [111] and {+-} 1/2 [1{bar 1}1] dislocations not only cause an increase of glide resistance to the dislocation motion on the ({bar 1}01) plane but also render the

  6. Foreword

    NASA Astrophysics Data System (ADS)

    Bibes, Manuel; Barthélémy, Agnès

    2015-03-01

    The term multiferroic was first introduced by Hans Schmid in 1994. His original definition referred to multiferroics as single-phase materials that simultaneously possess two or more primary ferroic properties, among which ferroelectricity, ferromagnetism, ferroelasticity, or ferrotoroidicity. Ferroelectric materials possess a stable spontaneous polarization that can be switched hysteretically by an applied electric field, ferromagnetic compounds exhibit a stable spontaneous magnetization hysteretically switchable by an applied magnetic field, while ferroelastic materials display a stable spontaneous deformation that can be reversed hysteretically by an applied stress. Ferrotoroidic materials possess the curl of a magnetization or polarization as a stable and spontaneous order parameter. This definition is nowadays extended to include other long-range orders, such as antiferromagnetism.

  7. Feature and score fusion based multiple classifier selection for iris recognition.

    PubMed

    Islam, Md Rabiul

    2014-01-01

    The aim of this work is to propose a new feature and score fusion based iris recognition approach where voting method on Multiple Classifier Selection technique has been applied. Four Discrete Hidden Markov Model classifiers output, that is, left iris based unimodal system, right iris based unimodal system, left-right iris feature fusion based multimodal system, and left-right iris likelihood ratio score fusion based multimodal system, is combined using voting method to achieve the final recognition result. CASIA-IrisV4 database has been used to measure the performance of the proposed system with various dimensions. Experimental results show the versatility of the proposed system of four different classifiers with various dimensions. Finally, recognition accuracy of the proposed system has been compared with existing N hamming distance score fusion approach proposed by Ma et al., log-likelihood ratio score fusion approach proposed by Schmid et al., and single level feature fusion approach proposed by Hollingsworth et al.

  8. The Diversity of Soluble Di-iron Monooxygenases with Bioremediation Applications

    NASA Astrophysics Data System (ADS)

    Holmes, Andrew J.

    Pollution with organic compounds (especially xenobiotics) is a significant ­problem of industrial societies. Treatment of waste streams to remove potential pollutants or remediation of contaminated sites can be achieved by exploiting the degradative capacity of bacteria. Among the most important of the enzymes used by bacteria in degradation of organic compounds are oxygenases. These enzymes catalyse the addition of oxygen atoms into organic compounds to produce alcohols, epoxides, etc. whose greater reactivity makes them substrates for a wider range of enzymes (Urlacher and Schmid 2006). The substrate range accommodated by the known oxygenases is enormous and for many organic pollutants, degradation pathways are initiated by oxygenases. This makes these enzymes applicable as fundamentally important enzymes to many bioremediation projects. They encompass a number of different protein families, utilizing distinct chemistries (Park 2007; Urlacher and Eiben 2006; van Beilen and Funhoff 2005; van Berkel et al. 2006; Wackett 2002).

  9. Hyperfunction solutions of the zero rest mass equations and representations of LIE groups

    SciTech Connect

    Dunne, E.G.

    1984-01-01

    Recently, hyperfunctions have arisen in an essential way in separate results in mathematical physics and in representation theory. In the setting of the twistor program, Wells, with others, has extended the Penrose transform to hyperfunction solutions of the zero rest mass equations, showing that the fundamental isomorphisms hold for this larger space. Meanwhile, Schmid has shown the existence of a canonical globalization of a Harish-Chandra module, V, to a representation of the group. This maximal globalization may be realized as the completion of V in a locally convex vector space in the hyperfunction topology. This thesis shows that the former is a particular case of the latter where the globalization can be done by hand. This explicit globalization is then carried out for a more general case of the Radon transform on homogeneous spaces.

  10. Reservoir competence of Microtus pennsylvanicus (Rodentia: Cricetidae) for the Lyme disease spirochete, Borrelia burgdorferi

    USGS Publications Warehouse

    Markowski, D.; Ginsberg, H.S.; Hyland, K.E.; Hu, R.

    1998-01-01

    The reservoir competence of the meadow vole, Microtus pennsylvanicus Ord, for the Lyme disease spirochete, Borrelia burgdorferi Johnson, Schmid, Hyde, Steigerwalt & Brenner was established on Patience Island, RI. Meadow voles were collected from 5 locations throughout Rhode Island. At 4 of the field sites, M. pennsylvanicus represented only 4.0% (n = 141) of the animals captured. However, on Patience Island, M. pennsylvanicus was the sole small mammal collected (n = 48). Of the larval Ixodes scapularis Say obtained from the meadow voles on Patience Island, 62% (n = 78) was infected with B. burgdorferi. Meadow voles from all 5 locations were successfully infected with B. burgdorferi in the laboratory and were capable of passing the infection to xenodiagnostic I. scapularis larvae for 9 wk. We concluded that M. pennsylvanicus was physiologically capable of maintaining B. burgdorferi infection. However, in locations where Peromyscus leucopus (Rafinesque) is abundant, the role of M. pennsylvanicus as a primary reservoir for B. burgdorferi was reduced.

  11. The ^3H(p,γ)^4He Reaction below 80 keV

    NASA Astrophysics Data System (ADS)

    Canon, R. S.; Kelley, J. H.; Nelson, S. O.; Schreiber, E. C.; Saburov, K.; Wulf, E. A.; Weller, H. R.; Prior, R. M.; Spraker, M.; Tilley, D. R.

    1999-10-01

    Significant advances in three body theory have resulted in excellent agreement with experimental radiative capture measurements(E. A. Wulf et al.), submitted to PRL. and emphasize the importance of MEC effects at energies below 100 keV(G. Schmid et al.), PRC 56, 2565 (1997).. Preliminary work has begun in applying these techniques to the four-body problem(A. Fonseca,W. Glöckle,A. Kievsky,H. Witala, (private communication).). In order to provide accurate experimental data for these forthcoming theoretical predictions, low energy polarized proton capture on tritium is being studied at TUNL. Preliminary results of these studies, which include a determination of the absolute cross section and measurements of the angular distributions of analyzing powers and cross sections, will be presented. Implications of these measurements will be discussed along with plans for future studies.

  12. Development of microbands in mild steel during cross loading

    NASA Astrophysics Data System (ADS)

    Thuillier, S.; Rauch, E. F.

    1994-06-01

    Mild steel specimens are submitted to a complex strain path (tension-shear sequence). The stress decrease recorded at the beginning of the second path is associated at the grain scale with a localization of the deformation in microbands. These microbands are associated with a single crystallographic slip system and carry the main part of the imposed strain. The prediction of the active slip systems during both the prestrain and the second path with the Taylor and static models leads to a necessary condition for the development of microbands: the slip system having the maximum Schmid factor must have been latent during the prestrain. At high strain level, the material resumes strain hardening and the dislocation structure is then composed of sheets parallel and/or perpendicular to the shear direction. The origin of the flow localization and the transition between the two types of structures, i.e. microbands and dislocation sheets, are then discussed.

  13. Redescription of late-instar larva of Scydmoraphes sparshalli (Denny) Coleoptera: Staphylinidae, Scydmaeninae).

    PubMed

    Jałoszyński, Paweł

    2015-10-20

    The larva of Scydmoraphes sparshalli is redescribed. This is the first complete description of an immature Scydmoraphes with special focus on the chaetotaxic characters. The larva is unique among Cyrtoscydmini in having three pairs of stemmata, a very long sensory appendage of the antennomere II, mandibles with mesal row of microserrations interrupted by smooth portion of mandibular margin; maxillary mala with asetose apex and a row of very long, modified setae on mesal margin, and extremely elongate maxillary palpomere III and labium. A comparative study of previous descriptions resulted in recognizing a misidentification of a Scydmoraphes larva (the "Typ 2-Larve" of Schmid) as a putative Neuraphes (Pararaphes). The serial homology of chaetotaxic structures in the larva of Scydmoraphes sparshalli is discussed, and comparative notes on the larvae of Scydmoraphes, Neuraphes and Stenichnus are given, with an identification key.

  14. Deutsch's CTC Model and its Implications for the Foundations of Quantum Theory

    NASA Astrophysics Data System (ADS)

    Dunlap, Lucas

    This dissertation is an exploration of several issues surrounding David Deutsch's CTC model first introduced in his 1991 paper "Quantum Mechanics Near Closed Timelike Lines". Deutsch developed his model to account for the effects of quantum theory, which had been left out of classical discussions of time travel paradoxes. Deutsch's formulation of his model in terms of quantum computational circuits lends itself to being adopted in the quantum information community. The dissertation argues that the adoption of the D-CTC model entails the existence of Nonlocal Signaling, which is in conflict with a fundamental principle of the quantum information approach. In order to motivate this argument, in Chapter 2 I introduce a distinction between Nonlocal Signaling, and Superluminal Information Transfer. In the latter case, a carrier of information physically traverses the space between the distant communicating parties faster than the speed of light. Exploiting quantum entanglement to signal, however, need not have this feature. I term this Nonlocal Signaling. Chapter 3 is where I present the argument that D-CTCs entail Nonlocal Signaling, and examine the controversy surrounding this and related results. I argue that the resistance to these kinds of predictions in the literature is motivated by a commitment to the principles of quantum information theory, which are inappropriately applied here. Chapters 4 and 5 examine details of Deutsch's model. Chapter 4 argues that it presupposes a significant metaphysical picture that, when explicitly stated, makes a much less comfortable fit between D-CTCs and quantum information theory. Chapter 5 argues that, because of Deutsch's commitment to this metaphysical picture, he is committed to the existence of physical situations that are in every way indistinguishable from the paradoxes he attempts to rule out by adopting the model in the first place. In Chapter 6, I make some observations about the relationship between the quantum

  15. The study of stress application and corrosion cracking on Ni-16 Cr-9 Fe (Alloy 600) C-ring samples by polychromatic X-ray microdiffraction

    SciTech Connect

    Chao, Jing; Fuller, Marina L Suominen; McIntyre, N Stewart; Carcea, Anatolie G; Newman, Roger C; Kunz, Martin; Tamura, Nobumichi

    2012-03-27

    Microscopic strains associated with stress corrosion cracks have been investigated in stressed C-rings of Ni-16 Cr-9 Fe (Alloy 600) boiler tubing. Polychromatic X-ray microdiffraction was used to measure deviatoric strain tensors and the distribution of dislocations near cracks that had been propagated in electrochemically accelerated corrosion tests. An associated investigation of the C-ring-induced strains prior to corrosion showed significant tensile strain in the stress axis direction by the torsional closure of the alloy tube section in the C-ring test. Significant grain lattice rotation and pronounced plastic strain at some grain boundaries were noted. Stress-corrosion-cracking-generated intergranular cracks were produced in two Alloy 600 specimens after 6 h and 18 h tests. The diffraction patterns and resultant strain tensors were mapped around the cracked area to a 1 μm spatial resolution. The strain tensor transverse to the crack growth direction showed tensile strain at the intergranular region just ahead of the crack tip for both specimens. Both cracks were found to follow grain boundary pathways that had the lowest angle of misorientation. Dislocation distributions within each grain were qualitatively obtained from the shapes of the diffraction spots and the effect of 'hard' and 'soft' grains on the crack pathway was explored for both 6 h and 18 h specimens. The Schmid factor of one of the grains adjacent to the crack at the 6 h and 18 h initiation sites was found to be the lowest, compared to Schmid factors calculated for surface grains away from the initiation site, and also along the crack path into the bulk.

  16. Bifactor models and rotations: exploring the extent to which multidimensional data yield univocal scale scores.

    PubMed

    Reise, Steven P; Moore, Tyler M; Haviland, Mark G

    2010-11-01

    The application of psychological measures often results in item response data that arguably are consistent with both unidimensional (a single common factor) and multidimensional latent structures (typically caused by parcels of items that tap similar content domains). As such, structural ambiguity leads to seemingly endless "confirmatory" factor analytic studies in which the research question is whether scale scores can be interpreted as reflecting variation on a single trait. An alternative to the more commonly observed unidimensional, correlated traits, or second-order representations of a measure's latent structure is a bifactor model. Bifactor structures, however, are not well understood in the personality assessment community and thus rarely are applied. To address this, herein we (a) describe issues that arise in conceptualizing and modeling multidimensionality, (b) describe exploratory (including Schmid-Leiman [Schmid & Leiman, 1957] and target bifactor rotations) and confirmatory bifactor modeling, (c) differentiate between bifactor and second-order models, and (d) suggest contexts where bifactor analysis is particularly valuable (e.g., for evaluating the plausibility of subscales, determining the extent to which scores reflect a single variable even when the data are multidimensional, and evaluating the feasibility of applying a unidimensional item response theory (IRT) measurement model). We emphasize that the determination of dimensionality is a related but distinct question from either determining the extent to which scores reflect a single individual difference variable or determining the effect of multidimensionality on IRT item parameter estimates. Indeed, we suggest that in many contexts, multidimensional data can yield interpretable scale scores and be appropriately fitted to unidimensional IRT models.

  17. Alps, Carpathians and Dinarides-Hellenides: about plates, micro-plates and delaminated crustal blocks

    NASA Astrophysics Data System (ADS)

    Schmid, Stefan

    2014-05-01

    Before the onset of Europe-Africa continental collision in the Dinarides-Hellenides (around 60Ma) and in the Alps and Western Carpathians (around 35 Ma), and at a large scale, the dynamics of orogenic processes in the Mediterranean Alpine chains were governed by Europe-Africa plate convergence leading to the disappearance of large parts of intervening oceanic lithosphere, i.e. the northern branch of Neotethys along the Sava-Izmir-Ankara suture and Alpine Tethys along the Valais-Magura suture (Schmid et al. 2008). In spite of this, two major problems concerning the pre-collisional stage are still poorly understood: (1) by now we only start to understand geometry, kinematics and dynamics of the along-strike changes in the polarity of subduction between Alps-Carpathians and Dinarides-Hellenides, and (2) it is not clear yet during exactly which episodes and to what extent intervening rifted continental fragments such as, for example, Iberia-Briançonnais, Tisza, Dacia, Adria-Taurides moved independently as micro-plates, and during which episodes they remained firmly attached to Europa or Africa from which they broke away. As Europe-Africa plate convergence slowed down well below 1 cm/yr at around 30 Ma ago these pre-collisional processes driven by plate convergence on a global scale gave way to more local processes of combined roll-back and crustal delamination in the Pannonian basin of the Carpathian embayment and in the Aegean (as well as in the Western Mediterranean, not discussed in this contribution). In the case of the Carpathian embayment E-directed roll back totally unrelated to Europe-Africa N-S-directed convergence, started at around 20 Ma ago, due to the presence relict oceanic lithosphere in the future Pannonian basin that remained un-subducted during collision. Due to total delamination of the crust from the eastward rolling back European mantle lithosphere the anticlockwise rotating ALCAPA crustal block, consisting of Eastern Alps and Western Carpathian

  18. Fibronectin matrix assembly is essential for cell condensation during chondrogenesis.

    PubMed

    Singh, Purva; Schwarzbauer, Jean E

    2014-10-15

    Mesenchymal cell condensation is the initiating event in endochondral bone formation. Cell condensation is followed by differentiation into chondrocytes, which is accompanied by induction of chondrogenic gene expression. Gene mutations involved in chondrogenesis cause chondrodysplasias and other skeletal defects. Using mesenchymal stem cells (MSCs) in an in vitro chondrogenesis assay, we found that knockdown of the diastrophic dysplasia (DTD) sulfate transporter (DTDST, also known as SLC26A2), which is required for normal cartilage development, blocked cell condensation and caused a significant reduction in fibronectin matrix. Knockdown of fibronectin with small interfering RNAs (siRNAs) also blocked condensation. Fibrillar fibronectin matrix was detected prior to cell condensation, and its levels increased during and after condensation. Inhibition of fibronectin matrix assembly by use of the functional upstream domain (FUD) of adhesin F1 from Streptococcus pyogenes prevented cell condensation by MSCs and also by the chondrogenic cell line ATDC5. Our data show that cell condensation and induction of chondrogenesis depend on fibronectin matrix assembly and DTDST, and indicate that this transporter is required earlier in chondrogenesis than previously appreciated. They also raise the possibility that certain of the skeletal defects in DTD patients might derive from the link between DTDST, fibronectin matrix and condensation.

  19. CCN1 Regulates Chondrocyte Maturation and Cartilage Development

    PubMed Central

    Zhang, Yongchun; Sheu, Tzong-jen; Hoak, Donna; Shen, Jie; Hilton, Matthew J; Zuscik, Michael J; Jonason, Jennifer H; O’Keefe, Regis J

    2016-01-01

    WNT/β-CATENIN signaling is involved in multiple aspects of skeletal development, including chondrocyte differentiation and maturation. Although the functions of β-CATENIN in chondrocytes have been extensively investigated through gain-of-function and loss-of-function mouse models, the precise downstream effectors through which β-CATENIN regulates these processes are not well defined. Here, we report that the matricellular protein, CCN1, is induced by WNT/β-CATENIN signaling in chondrocytes. Specifically, we found that β-CATENIN signaling promotes CCN1 expression in isolated primary sternal chondrocytes and both embryonic and postnatal cartilage. Additionally, we show that, in vitro, CCN1 overexpression promotes chondrocyte maturation, whereas inhibition of endogenous CCN1 function inhibits maturation. To explore the role of CCN1 on cartilage development and homeostasis in vivo, we generated a novel transgenic mouse model for conditional Ccn1 overexpression and show that cartilage-specific CCN1 overexpression leads to chondrodysplasia during development and cartilage degeneration in adult mice. Finally, we demonstrate that CCN1 expression increases in mouse knee joint tissues after meniscal/ligamentous injury (MLI) and in human cartilage after meniscal tear. Collectively, our data suggest that CCN1 is an important regulator of chondrocyte maturation during cartilage development and homeostasis. PMID:26363286

  20. Physical and linkage mapping of the human and murine genes for the [alpha]1 chain of type IX collagen (COL9A1)

    SciTech Connect

    Warman, M.L. Children's Hospital Tiller, G.E.; Polumbo, P.A. ); Seldin, M.F.; Rochelle, J.M. ); Knoll, J.H.M.; Cheng, Sou De ); Olsen, B.R. )

    1993-09-01

    The IX collagen, a member of the FACIT family of extracellular matrix proteins, is a heterotrimer composed of three genetically distinct [alpha] chains. The cDNAs for the human and mouse [alpha]1(IX) chains have been cloned. In this paper the authors confirm the mapping of the human COL9A1 gene to chromosome 6q12-q13 by fluorescence in situ hybridization utilizing two genomic clones which also contain short tandem repeat polymorphisms. They also report the characterization of these repeats and their incorporation into the chromosome 6 linkage map. The COL9A1 locus shows no recombination with the marker D6Z1 (Z = 27.61 at [theta] = 0) and identifies the most likely locus order of KRAS1P-[D6Z1-COL9A1]-D6S30. In addition, using an interspecific backcross panel, they have mapped murine Col9a1 to mouse chromosome 1. Together with other comparative mapping results, these data suggest that the pericentric region of human chromosome 6 is homologous to the most proximal segment of mouse chromosome 1. These data may facilitate linkage studies with COL9A1 (or col9a1) as a candidate gene for hereditary chondrodysplasias and osteoarthritis. 35 refs., 2 figs., 2 tabs.