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At least 19 recordsLinked to original sources
PubMed1991

Metaphyseal anadysplasia: a metaphyseal dysplasia of early onset with radiological regression and benign course.

We report on 4 boys (including 2 maternally related first cousins) with a metaphyseal dysplasia of early onset and regressive evolution. Diagnosis is possible in the first months. Distal metaphyses of long bones are very irregular. Femoral necks seem hypoplastic and the edges of the metaphyses are almost vertical; femoral shaft is bowed. Those anomalies disappear after 2 years. The main manifestations are slight shortness and a light varus deformity of the lower limbs. Stature is not affected. The upper tibial growth cartilage, studied in one case, showed wide proliferative and hypertrophic zones with an unusual appearance of the last hypertrophic cells and an abnormal zone of cartilage calcification and resorption. The name "metaphyseal anadysplasia" is suggested for this early and regressive disorder. We are aware of other forms of regressive metaphyseal dysplasia which deserve further delineation. Therefore infants whose radiological changes of metaphyseal dysplasia do not fall into one of the well-defined types should be followed and prediction of the adult height should not be made on the basis of the findings on the initial examination.

Bone Diseases, Developmental↗
PubMed1998

Metaphyseal anadysplasia type II: a new regressive metaphyseal dysplasia.

We report on six unrelated children, three boys and three girls, with a metaphyseal dysplasia of early onset and spontaneous regressing evolution. During the first months of life the children present with enlargement of costochondral junctions and knobby wrists. On radiographs the metaphyseal changes of the knees are specific with fine irregularities. The femoral necks are blurred but not hypoplastic. The stature is not affected and there are no metabolic abnormalities. The radiographic findings regress during growth and the abnormalities disappear after the age of ten years. These metaphyseal changes and their mode of inheritance are different from previous cases described as anadysplasia. We propose therefore to delineate this syndrome as a new type of regressive metaphyseal dysplasia and to name it anadysplasia type II.

Cartilage↗
PubMedDate not supplied

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

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

Animals↗
PubMed1992

The fibrous metaphyseal defect in early stage. Differential diagnosis to metaphysitis.

In a 22-month-old boy a fibrous metaphyseal defect (FMD) was diagnosed by radiological follow-up examinations. The initial radiological finding could not be differentiated from metaphysitis because of its early manifestation and stage. Eleven months later, magnetic resonance imaging (MRI) with Gadolinium (Gd)-DTPA demonstrated a small central area of increased signal intensity. Based on known angiographic findings with fibrous metaphyseal defects, one may hypothesize that this is best explained by a hypervascularized area.

Bone Diseases, Developmental↗
PubMed1996

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

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

Adolescent↗
PubMed2003

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

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

Bone Diseases↗
PubMed2005

Distinctive new form of spondyloepimetaphyseal dysplasia with severe metaphyseal changes similar to Jansen metaphyseal chondrodysplasia.

We report a boy with a unique, "new" form of spondyloepimetaphyseal dysplasia. The conspicuous features of the spinal changes were the delay in ossification of the cervical spine and posterior elements of the thoraco-lumbar spine. The vertebral bodies were of abnormal shape but of normal size and well ossified. The hallmark of epiphyseal changes was markedly delayed ossification (bone age). The severely disturbed metaphyseal ossification was similar to Jansen metaphyseal dysplasia. This pattern of changes has not yet been described in spondyloepimetaphyseal dysplasia.

Abnormalities, Multiple↗
PubMed2004

Pathogenesis of metaphyseal radiolucent changes following ischemic necrosis of the capital femoral epiphysis in immature pigs. A preliminary report.

BACKGROUND: Although metaphyseal radiolucent changes are often seen in patients with Legg-Calvé-Perthes disease, the pathogenesis of these changes remains controversial. The purpose of the present study was to determine the prevalence and histopathological characteristics of these metaphyseal radiolucent changes in a piglet model of ischemic necrosis of the capital femoral epiphysis. METHODS: Ischemic necrosis of the right femoral head was produced in fifty piglets by surgically placing a ligature tightly around the femoral neck. The contralateral, left hip of each animal was used as a control. Radiographs and histological sections of the femoral heads were examined at two, four, and eight weeks. The radiographs were used to measure the femoral neck length in order to assess growth disturbance. RESULTS: Thirteen of the fifty animals were found to have radiolucent changes in the proximal femoral metaphysis on the side of the infarcted femoral head. These changes were observed in none of the twelve animals that were evaluated at two weeks, in one of the fourteen animals that were evaluated at four weeks, and in twelve of the twenty-four animals that were evaluated at eight weeks. The radiolucent changes ranged from a focal cystic lesion to a diffuse area of radiolucency around the proximal femoral physis. Three distinct types of histological changes were observed in the metaphysis. Type-I changes were characterized by focal thickening of the physeal cartilage extending down into the metaphysis. Some of these lesions demonstrated cystic degeneration of the thickened cartilage. Type-II changes were characterized by central disruption of the physis and resorption and replacement of the metaphyseal bone in the region by fibrovascular tissue. Type-III changes were characterized by diffuse resorption of the physeal cartilage and resorption of the adjacent metaphyseal and epiphyseal bone. The mean femoral neck length on the infarcted side in animals with metaphyseal radiolucent changes was significantly shorter than that in animals without metaphyseal radiolucent changes (p = 0.02). CONCLUSIONS: Metaphyseal radiolucent changes frequently were observed in this piglet model at eight weeks after the induction of ischemia. The metaphyseal radiolucent changes were associated with histopathological lesions of the physis. The present study suggests that the presence of metaphyseal lesions can result in a greater growth disturbance of the proximal femoral physis than is seen in the absence of metaphyseal lesions. CLINICAL RELEVANCE: The present study supports the clinical observation that the presence of diffuse metaphyseal radiolucent changes may be associated with substantial growth disturbance of the proximal part of the femur in patients with Legg-Calvé-Perthes disease. The study provides a histopathological basis for proximal femoral physeal growth disturbance that has not been clearly demonstrated in the past. These findings also may provide a histopathological basis for the fluidfilled metaphyseal cysts that sometimes are observed on the magnetic resonance imaging scans of these patients.

Animals↗
PubMed2007

COL2A1-related skeletal dysplasias with predominant metaphyseal involvement.

Skeletal dysplasias induced by mutations in the collagen 2 gene (the so-called "type 2 collagenopathies") form a wide spectrum in severity and are distinguished by subtle clinical and radiographic differential signs. The unifying features are predominant involvement of the vertebral bodies and the epiphyses of the long bones ("spondylo-epiphyseal" pattern). A mild degree of metaphyseal dysplasia can be seen in the so-called Strudwick variant of spondyloepimetaphyseal dysplasia and is generally mild or absent in other forms. We report here on four individuals with COL2A1 mutations associated with marked metaphyseal involvement with only mild epiphyseal and spondylar changes. One patient who carried a Gly283Arg substitution had a pattern of metaphyseal dysplasia that corresponded precisely to what was termed "Murdoch type metaphyseal dysplasia" in 1960s and was renamed Strudwick type SEMD in 1980s; the second patient carried a Gly181Arg substitution and had severe metaphyseal dysplasia with fractures at the metaphyses reminiscent of the "corner fractures" or Sutcliffe type spondylometaphyseal dysplasia. The third patient also had major metaphyseal involvement but more epiphyseal changes than the others in this study and had a Gly922Arg mutation in COL2A1. The final patient had a small in-frame deletion and unusually ballooned and distorted metaphyses. While it remains true that most individuals with COL2A1 mutations have chondrodysplasia with a spondylo-epiphyseal pattern, metaphyseal involvement is not incompatible with a COL2A1 dysplasia and mutation analysis can be indicated. The observation of these individuals with metaphyseal dysplasia indicates that the phenotypic spectrum associated with mutations in type 2 collagen, the main cartilage protein, is even wider than hitherto assumed.

Adolescent↗
PubMed2001

Cancer and metaphysics.

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

Humans↗