PubMed HealthSearch

Biomedical subjects

J Ellard

Publications and source records attributed to J Ellard.

At least 19 recordsLinked to original sources

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

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.

Alleles

Reduced amounts of cartilage collagen fibrils and growth plate anomalies in transgenic mice harboring a glycine-to-cysteine mutation in the mouse type II procollagen alpha 1-chain gene.

We have generated transgenic mice harboring a glycine-to-cysteine mutation in residue 85 of the triple helical domain of mouse type II collagen. The offspring of different founders displayed a phenotype of severe chondrodysplasia characterized by short limbs and trunk, cranio-facial deformities, and cleft palate. The affected pups died of acute respiratory distress caused by an inability to inflate lungs at birth. Staining of the skeleton showed a severe retardation of growth for practically all bones. Light microscopic examination indicated a decrease in cartilage matrix density, a severe disorganization of growth plate architecture, and the presence of streaks of fibrillar material in the cartilage matrix. Electron microscopic analysis showed a pronounced decrease in the number of typical thin cartilage collagen fibrils, distension of the rough endoplasmic reticulum of chondrocytes, and the presence of abnormally large banded collagen fibril bundles. The level of expression of the mutant type II procollagen alpha 1 chain transgene in cartilage tissues was approximately equal to that of the endogenous gene in two of the strains. We propose that the principal consequence of the mutation is a considerable reduction in density of the typical thin cartilage collagen fibrils and that this phenomenon causes the severe disorganization of the growth plate. We also postulate that the abnormal thick collagen fibrils are probably related to a defect in crosslinking between the collagen molecules. The cartilage anomalies displayed by these transgenic mice are remarkably similar to those of certain human chondrodysplasias.

Animals

The dangerousness of psychiatrists.

Since psychosis occasionally leads to behaviour requiring constraint, psychiatrists are involved in decisions which may lead to loss of liberty. In some places and at some times psychiatrists and their predecessors have made those decisions unrestrained. This essay considers how we have used that power in the past, indicates some of the abuses extant now, recognises that there is no satisfying solution to the problems which exist and argues for the consistency of the legal system with all its limitations rather than the uncertain and unrestrained judgment of individual psychiatrists.

Altruism

A proof of the beneficial effects of psychotherapy, with an evaluation of two competing models.

The heuristic evaluation (HE) of differential strategies (DS) for the dissipation of dysfunctional cognitive and affective psychopathology (DODCAAP) has been addressed with ongoing evaluative modalities (OEM) for many years without an emergent consensus concerning their meaningful effective roles (MER). Their strategic perspectives (SP) have been addressed in this study, and the attention deployment (AD), reactive vigilance (RV), process withdrawal reactivity (PWR) and other ongoing responses to two strategic modalities of intervention are addressed with investigational techniques (IT).

Humans

The history and present status of moral insanity.

Psychiatric taxonomies, always a little uncertain, are most confused and illogical when they endeavour to encompass the moral and legal aspects of human behaviour. The concept of moral insanity represented a step backwards when it came into being, but it has persisted for a century and a half, changing only its title. Its creation and its subsequent history exemplify some of the common errors in psychiatric theorising.

Australia

Did schizophrenia exist before the eighteenth century?

Madness has resisted a satisfactory categorisation for 2,000 years or more. During the last century attempts to define and understand schizophrenia as an entity within that disorder have failed. This article explores some of the reasons why this may have happened, in particular considering whether the syndrome that we now call schizophrenia has changed in recent years and whether it existed at all four centuries ago. It is based on the author's experience and upon contemporary case histories.

History, 16th Century

Drugs and prisons.

For as long as it has existed, our Australian society has been attempting to deal with addiction and criminal behaviour. Both crime and the taking of illicit drugs are reflections of the divisions, hatreds and wretchedness that have long existed within our society and within the individuals that comprise it. The prison, as a micro-society, brings the larger problems into an intense focus, with consequent difficulties for those who must administer it. This essay is concerned with those difficulties, their history and their management.

Australia

The music of psychiatry.

The author argues that the practice of psychiatry is impeded by a central paradox. On the one hand, psychiatry cannot develop unless the methods of science are used to unravel its problems. On the other, a significant part of what has been advanced as science is of little value and has done no more than divert attention from the important non-scientific aspects of psychiatric practice. Empathetic and perceptive practice is central for good psychiatry; there is no reason to believe that scientific method alone--good or bad--will lead to its achievement.

Philosophy, Medical