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Biomedical subjects

A Hunter

Publications and source records attributed to A Hunter.

At least 19 recordsLinked to original sources
PubMed1992

The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy.

The gene for myotonic dystrophy (DM) has recently been isolated and amplification of an unstable CTG trinucleotide repeat, located within the DM gene, has been identified in virtually all patients studied to date. A high proportion of DM families who are studied show a progressively earlier age of onset with succeeding generations and, in the few pedigrees reported so far, an increasing degree of amplification of the CTG repeat has been noted to parallel this trend. It has been implicit in several of the original reports on the nature of the changes in the DM gene that knowledge of CTG amplification status at the DM locus of a person will provide useful information concerning prognosis. However, no studies of genotype-phenotype correlation have been reported and there are no specific data on which to base such counsel. In this paper we report the correlation between the degree of CTG amplification and age of onset in 109 DM gene carriers from 17 families. Included are parent-child and sib-sib comparisons which provide a framework in which to incorporate DNA diagnostic studies when counselling subjects and families at risk for DM.

Adolescent↗
PubMed1990

Diagnosis of gestational diabetes in Australia: a national survey of current practice.

A national survey of pathology laboratories revealed a great diversity in the use of screening tests, and in the performance and interpretation of oral glucose tolerance tests for the detection of gestational diabetes. This situation is unsatisfactory and highlights the need for rationally established procedures and diagnostic criteria.

Australia↗
PubMed1990

The popliteal pterygium syndrome: report of a new family and review of the literature.

This paper reports on a family with popliteal pterygium syndrome (PPS), which was ascertained through a baby with most of the major signs of the syndrome. The mother, who had a repaired cleft palate and toe syndactyly, had been aware that her syndactyly was familial, but her unpreparedness for the birth of a child with PPS led to interest in, and a subsequent review of, the differnetial diagnosis and the variable expression of the clinical manifestations of this syndrome. Upon review, some earlier reported cases were excluded as PPS, and certain ascertainment and reporting biases that could affect such an analysis were considered.

Diagnosis, Differential↗
PubMed1990

Cuing efficiency in a Stroop-like task with visual half-field presentation.

Stroop-like stimuli were presented to either the left or the right visual half-field. Subjects responded to the identity of the words above and below (the target dimension), which appeared above or below a reference point (the cuing dimension). Automatic Stroop-like effects were assessed as the difference in reaction times between congruent trials (e.g., above the reference point) and incongruent trials (e.g., above below the reference point) when both trial types were equally frequent. In blocks in which most trials were of one type (e.g., 80% congruent trials), controlled Stroop-like effects could be assessed. Automatic Stroop-like effects remained unchanged under different task manipulations. In contrast, controlled Stroop-like effects were reduced by lowering cue-response compatibility and by increasing the response alternatives from two to four. Thus, similar to other cuing effects, controlled Stroop-like effects are susceptible to manipulations that affect the response-decision stage and appear to involve response-selection processes. The resources supporting these response-selection decisions were not hemisphere-specific, and were sufficiently nonspecific that interference from a memory-load task was found. When resources were scarce, a consistent bias to attend to stimuli presented or responded to on the right was evident.

Adult↗
PubMed1989

Ambiguous genitalia associated with skeletal abnormalities, cutis laxa, craniostenosis, psychomotor retardation, and facial abnormalities (SCARF syndrome).

We describe 2 male maternal first cousins, 7 years and 7 months old, with a previously unreported pattern of malformations including lax skin, joint hyperextensibility, umbilical and inguinal herniae, craniosynostosis, pectus carinatum, several abnormally shaped vertebrae, enamel hypoplasia and hypocalcification of the teeth, facial abnormalities and wide webbed neck, ambiguous genitalia, multiple nodular liver tumors, and mild psychomotor retardation. The occurrence of 2 male children related through their mothers suggests the possibility of X-linked recessive inheritance. It is proposed to call this disorder the SCARF syndrome (skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormalities).

Abnormalities, Multiple↗
PubMed1989

A quantitative analysis of the synaptic development of the lobus parolfactorius of the chick (Gallus domesticus).

The lobus parolfactorius (LPO) of the chick has been shown to undergo an increase in the mean synaptic numerical density (Nvsyn) in response to one-trial passive avoidance learning (Stewart et al. 1987). The present study was undertaken in order to describe the pattern of normal development of synapses in the LPO, to further investigate the significance of this plastic response. The LPO's from each hemisphere of pre-hatch (16 days), and post-hatch (1 day, 9 day and 22 day old) chicks were processed for electron microscopy. Synapses were classified into asymmetric spine, asymmetric shaft, symmetric spine, and symmetric shaft synapses, on the basis of the density of the post-synaptic thickening and the nature of the post-synaptic target. A 3-dimensional stereological probe was used (the 'disector') to calculate Nvsyn, and mean projected height (Hsyn) of the post-synaptic density (PSD). Mean values for each age and hemisphere were compared with a 2-way analysis of variance test using paired samples. A six-fold increase in Nvsyn was seen between 16 days in ovo, and 9 days post-hatch. There was a hemispheric asymmetry at 9 days post-hatch, with the left hemisphere LPO containing 1.6 times as many synapses per micron-3. There was a subsequent period of reduction in synaptic density in the left hemisphere LPO between 9 and 22 days post-hatch. The Nv of all classes of synapse increased with age, but the proportions of the symmetrical synapses with respect to the total number of synapses, decreased with age. This decrease was of a similar magnitude for each hemisphere. A hemispheric difference was seen in post-hatch asymmetric synapses, with a greater proportion of asymmetric spine synapses in the left hemisphere. The magnitude of the hemispheric asymmetry was constant throughout the 3 week period of post-hatch development, but was not present in pre-hatch chicks. The PSD increased in length in each hemisphere by approximately 40% between post-hatch day 1 and post-hatch day 9. These data show that the LPO contains a synaptic population which undergoes substantial modification during the first week post-hatch. An asymmetry exists at post-hatch day 9 which is not present at the earlier ages investigated, nor indeed after 22 days post-hatch. This may have significance with regard to studies of passive avoidance learning in the one-day old chick, where an increase in both the size and number of synapses in the LPO has been demonstrated (Stewart et al. 1987).(ABSTRACT TRUNCATED AT 400 WORDS)

Animals↗
PubMed1989

The recycling of a secretory granule membrane protein.

We have used N-hydroxysuccinimido-d-biotin as a reagent for labeling proteins exposed at the surface of cultured bovine adrenal chromaffin cells during Ba2+-stimulated secretion. A specific secretory granule membrane constituent, dopamine-beta-hydroxylase (DBH), has been investigated using immunoprecipitation followed by electrophoresis. Within 30 min of stimulation, exposed DBH had been cleared from the cell surface. Nevertheless, quantitation of labeled DBH using [125I] streptavidin suggested that it remained undegraded over a period of 24 h, a time during which secretory granule stores of catecholamines were being replenished. Subcellular fractionation of the cultured cells suggested that, after 3 or 4 h, the biotinylated DBH, which was still membrane-bound, was located in particulate material that also contained cytochrome b561, another major secretory granule membrane component.

Adrenal Medulla↗
PubMed1988

XY sex reversal syndrome in the mare: clinical and behavioral studies, H-Y phenotype.

An inherited genetic disorder causes XY embryos of the horse to develop as mares. On the basis of our study of 38 such mares, we have identified four grades or classes of XY sex reversal according to this scheme: class I, nearly normal female, of which some are fertile; class II, female with gonadal dysgenesis, normal mullerian development; class III, intersex mare with gonadal dysgenesis, abnormal mullerian development, enlarged clitoris; class IV, virilized intersex characterized by high levels of testosterone. In general, class I and class II mares were typed H-Y antigen-negative whereas class III and class IV mares were typed H-Y antigen-positive.

Animals↗
PubMed1987

Brain death.

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Brain Death↗
PubMed1986

A quantitative morphological study of interstrain variation in the developing rat optic nerve.

Groups of pigmented (Black and White Hooded Lister) and albino (Sprague Dawley) rats were killed at 7, 15, and 25 postnatal days of age. Their optic nerves were embedded in resin suitable for both light and electron microscopy. Quantitative stereological procedures were used to estimate total fibre number and the degree of myelination in the optic nerves at the various ages. At 7 days of age, both albino and pigmented rats had about 220,000 optic nerve fibres. By 15 days, both strains showed a reduction of some 30,000 fibres. This fibre loss continued in both strains after 15 days of age, but more rapidly in the pigmented strain. At 25 days of age, pigmented rats had 72,371 +/- 7,244 fibres, whilst albino rats had 102,681 +/- 4,138 fibres (P less than .01). More than 99.5% of optic nerve axons in both strains were unmyelinated at 7 days of age. By 25 days of age about 90% of all remaining fibres were myelinated in both strains. The mean diameter of the myelinated axons was estimated to be between 0.59 and 0.65 micron in all animals, there being no significant age or strain differences. In contrast, the mean diameter of nonmyelinated axons increased significantly with age. This increase was greater for albino than pigmented rats, such that by 25 days of age the respective values were 0.49 micron and 0.42 micron (P less than .05).

Aging↗
PubMed1986

Immunological and biosynthetic studies on the mammalian 2-oxoglutarate dehydrogenase multienzyme complex.

High-titre, monospecific, polyclonal antisera have been raised against purified mitochondrial 2-oxoglutarate dehydrogenase complex (OGDC) from ox heart and two of its three constituent enzymes, 2-oxoglutarate dehydrogenase (E1) and lipoyl succinyltransferase (E2). These specific antisera have been employed to monitor molecular events in the biosynthesis, import and maturation of this multimeric assembly. Lipoamide dehydrogenase (E3) elicits a poor antibody response in comparison to the other polypeptides of the complex. In cultured pig kidney cells (PK-15), incubated with [35S]methionine in the presence of uncouplers of oxidative phosphorylation, appearance of stable higher-Mr forms of the individual enzymes can be detected by specific immunoprecipitation and fluorographic analysis. In the case of 2-oxoglutarate dehydrogenase, E1, the initial cytoplasmic translation product has a subunit Mr value of 1500-3000 greater than in the mature enzyme while the precursor of the lipoyl succinyltransferase, E2, contains an additional sequence of Mr 6000-8000. Competition studies have revealed the immunological similarity of the precursor molecules to the native subunits. On removal of uncouplers, processing of accumulated precursors is rapidly initiated and is complete within 40 min. Interestingly, antiserum to native 2-oxoglutarate dehydrogenase complex fails to recognise E2 precursor molecules (pre-E2), which can be immunoprecipitated, however, by antibodies raised against the denatured E2 subunit. It is concluded that pre-E2 is conformationally dissimilar to native E2, which exists normally as a highly ordered, multimolecular aggregate in the native complex.

Animals↗