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Biomedical subjects

J G Hall

Publications and source records attributed to J G Hall.

At least 307 records · Page 17Linked to original sources

A new variety of spondyloepiphyseal dysplasia characterized by punctate corneal dystrophy and abnormal dermal collagen fibrils.

Several individuals from one family are described with a unique form of spondyloepiphyseal dysplasia. Characteristic features include short-trunked short stature, punctate corneal dystrophy and marked disorganization of dermal collagen fibrils when examined by transmission electron microscopy. Inheritance is compatible with either dominance and a variable expression or X-linkage. Although the basic defect has not been determined, the tissue distribution is consistent with a defect in a non-collagenous component that affects collagen fibril formation or stability.

Adult↗

The frequency and financial burden of genetic disease in a pediatric hospital.

Medical charts from 1973 were reviewed from a general pediatric hospital whose admissions comprise 55% of those in the surrounding metropolitan area. The study population (4,115) was selected by using charts from January, March, May, July, September, and November of that year. The patients were categorized by diagnosis as to I) clearly genetic disorders, II) multifactorial disorders, III) developmental anomalies, IV) familial conditions, or V) nongenetic conditions. Of all admissions, 4.5% had genetic disorders (0.6% chromosmal, 1.2% autosomal dominant, 2.2% autosomal recessive, 0.5% X-linked recessive); 22.1% had multifactorial/polygenic conditions; 13.6% developmental anomalies; 13.2% familial disorders, and 46.6% nongenetic disorders. Patients with clearly genetic disorders (category I) were found to have had an average of 5.3 admissions as compared to 1.6 for patients with nongenetic conditions (category V). Of genetic patients (category I) 12.8% had more than 20 admissions as compared to only 1.2% for all patients studied (categories I-V). The length of hospitalization for genetic patients was 3.4 days as compared to 3.0 for all patients and 2.5 for nongenetic patients. Although the cost per day for genetic patients, exclusive of physicians' fees, was lower than for all patients, the total cost of hospitalization was the same (($450.98 as compared to $446.99 for all patients). Of all patients, 60.2% studied had third-party coverage, whereas only 43.8% of genetic patients did. Of all patients, 15.6% paid "out of their pockets" whereas 30.5% of genetic patients did. This study suggests that genetic patients have many more admissions which are slightly more expensive; that they stay longer in hospital; that they travel farther, and that their families end up paying the bill more often. No unusual differences in religion, race, age, or parents' marital status or occupation were found. It was remarkable that only one quarter of patients with genetic illness had received genetic counseling.

Age Factors↗

The use of detergents and immunoperoxidase reagents for the ultrastructural demonstration of internal immunoglobulin in lymph cells.

Lymph-borne immunoblasts were fixed in dilute glutaraldehyde and then treated with saponin. This treatment made most parts of the cells permeable to ferritin, so that anti-immunoglobulin (Ig) antibodies which had been conjugated to horse radish peroxidase (HRP) had no difficulty in gaining access to Ig which thus could be demonstrated at an ultrastructural level. Best results were obtained by fixing the cells in 0.1% glutaraldehyde for 7 min and then treating them with a 1% solution of saponin for 100 min at 55 degrees C before exposing them to the Ig-HRP conjugate. The method yielded reproducible results and although it causes a small amount of ultrastructural damage, it may be of value in detecting a variety of intracellular antigens.

Animals↗

The phenotypic variability of diastrophic dysplasia.

To determine the relationship between so-called "diastrophic variant" and diastrophic dysplasia, four patients considered to have the variant condition were studied in detail and compared to 67 patients (including 17 sets of affected sibs) considered to have classical diastrophic dysplasia. Analysis of the combined clinical, radiographic, histologic, and genetic data indicates that there is wide variability in the phenotypic expression of diastrophic dysplasia, even within sibships, and that those individuals previously labeled as having "diastrophic variant" appear to have mild diastrophic dysplasia.

Adult↗

Standard growth curves for achondroplasia.

Standard growth curves for achondroplasia, the most common form of short-limbed dwarfism, have been constructed based on measurements of height, growth velocity, upper and lower segment, and head circumference in 400 achondroplastic dwarfs. These standard curves provide the basis to assess normal growth in these individuals, to aid in the determination of superimposed disorders, and to assess any growth accelerating therapy.

Achondroplasia↗

Amniotic fluid cell mosaicism for presumptive trisomy 20.

Trisomy for an F-like chromosome with banding characteristics of chromosome 20 was observed, respectively, in 25 and 8% of amniotic fluid cell clones in two cases of prenatal diagnosis for advanced maternal age. No such aneuploidy was found upon examination of fetal or postnatal tissues. In both instances there were no detectable malformation. It is suggested that propensity to nondisjunction for an F-like chromosome, not unlike tetraploidy, might be another characteristic of amniotic fluid cells in culture.

Abortion, Induced↗

Ranking of excitatory amino acids by the antagonists glutamic acid diethylester and D-alpha-aminoadipic acid.

A separation of the excitatory actions of the amino acids upon thalamic neurones of rats anaesthetized with urethane has been accomplished through the use of two antagonists. It has been possible to rank the excitatory compounds in their order of susceptibility to D-alpha-aminoadipic acid (DalphaAA) and L-glutamic acid diethylester (GDEE). The observation that the ranking orders of the excitants differ for these two antagonists permits an analysis of the types of receptors with which the amino acid excitants react. The results support the proposition that more than one neuronal receptor sensitive to the amino acids exists.

2-Aminoadipic Acid↗

Morphine, naloxone and the responses of medial thalamic neurones of the cat.

Administered electrophoretically morphine depressed the firing of medial thalamic neurones. This effect was not antagonized by naloxone which itself was a depressant. A long lasting increase in sensitivity to L-glutamate followed ejection of both morphine and naloxone. Intravenous morphine, 0.5-1.5 mg/kg, had inconstant effects on spontaneous firing that evoked by electrical stimulation of the forepaws but in 7 of 10 experiments reduced the sensitivity of neurones to L-glutamate. This effect was reversed in all cases by intravenous naloxone, 0.3 mg/kg

Acetylcholine↗