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Biomedical subjects

J G Hall

Publications and source records attributed to J G Hall.

At least 289 records · Page 16Linked to original sources
PubMed1979

Levels of adenosine deaminase in some experimental animal tumours and the possible therapeutic effect of the ADA inhibitor 2-deoxy-coformycin.

The intracellular adenosine deaminase activities (ADA) in 12 different experimental animal tumours were measured. Unlike the leukaemic lymphoblasts of man, those of two spontaneous rat leukaemias did not have elevated levels of the enzyme. Very high levels were found in a rat plasma-cell tumour (IR 461) and an attempt was made to treat such tumours with the specific enzyme inhibitor, 2-deoxy-coformycin. The shortage of this drug prevented a systematic study, but a daily dose of 8 mg/kg had a significant inhibitory effect on the growth of tumours.

Adenosine Deaminase↗
PubMed1979

Analysis of alloantisera against bovine lymphocytes. Joint report of the 1st International Bovine Lymphocyte Antigen (BoLA) workshop.

The results and agreements of the 1 international BoLA workshop, held in Edinburgh, Scotland in August 1978, are reported. Most of these concern the results from a comparison test of 249 alloantisera to bovine lymphocytes, the antisera being contributed by 9 laboratories. These sera were compared directly in Edinburgh on a panel of lymphocytes from 130 cattle of 21 breeds. In the microlymphocytotoxicity test used 75% of the sera reacted. Sixty eight of these sera were grouped into clusters according to their reaction patterns against the lymphocyte panel. Eleven of these clusters were clearly defined and were given workshop BoLA designations. In addition 22 sera were assigned to subgroups of the agreed clusters. There was no evidence that the method of production of the sera had any effect on their specificity. Although genetic data was not available, the phenotypes of the test panel of lymphocytes are consistent with the clusters detecting antigens controlled by multiple alleles at a single autosomal locus. It was agreed to name the genetic region where this putative locus is located BoLA (bovine lymphocyte antigen).

Animals↗
PubMed1979

Prenatal diagnosis of thrombocytopenia with absent radii.

Six pregnancies at risk for thrombocytopenia and absent radii (TAR) have been studied between 16 and 20 menstrual weeks utilizing fetal radiography. Two affected and four unaffected fetuses have been correctly identified. Fetal radiography can provide reliable prenatal diagnosis in pregnancies at risk for TAR.

Abortion, Induced↗
PubMed1979

An autosomal dominantly inherited syndrome of facial asymmetry, esotropia, amblyopia, and submucous cleft palate (Bencze syndrome).

This is the second report of a dominantly inherited syndrome of facial asymmetry, esotropia, and amblyopia (Bencze syndrome). The phenotypic spectrum is expanded to include submucous cleft palate. The observation for the first time of male-to-male transmission seems to confirm an autosomal dominant mode of inheritance. The facial asymmetry in this family was mild and did not require surgical intervention. With the exception of one patient who had other abnormalities, intelligence was normal.

Amblyopia↗
PubMed1979

Variable expression in a dominantly inherited skeletal dysplasia with similarities to brachydactyly E and spondyloepiphyseal-spondyloperipheral dysplasia.

Variable expression and penetrance of dominantly inherited disorders present problems in diagnosis and counseling. The variation in clinical findings within a family with an autosomal dominant skeletal dysplasia is presented. In some members only shortened metacarpals were found, as seen in classic Brachydactyly E. Others presented with more severe and generalized skeletal involvement, such as is found in some of the spondyloepiphyseal dysplasias. This family may represent the true spectrum of Brachydactyly E; they may be affected with a specific spondyloepiphyseal dysplasia; or they may represent a new syndrome. The authors favor the first possibility and feel that this family serves to emphasize the importance of examining all affected members in a kindred with an autosomal dominant disease.

Adult↗
PubMed1979

No evidence for chromosomal mosaicism in multiple tissues of 10 patients with 45, XO Turner syndrome.

Why the frequency of spontaneous abortions among monosomy X conceptuses is 98% while the postnatal course of Turner syndrome is relatively benign has not been understood. One explanation could be that mosaicism for a euploid cell line confers viability and that those 2% of 45,XO zygotes surviving in utero have some degree of mosaicism. We thus reasoned that if the non-mosaic 45,XO karyotype is lethal, a thorough study of living Turner syndrome patients might reveal a much higher frequency of mosaicism than the 30--40% reported. Ten adult women with a 45,XO leukocyte karyotype were investigated, looking at five tissue types from all three germ layers: buccal mucosa and hair from ectoderm, urinary epithelium from endoderm and ectoderm, and lymphocytes and skin fibroblasts from mesoderm. We were unable to confirm mosaicism in these patients, although in 2 out of 10 there was the suggestion of a small percentage of euploid cells in skin and blood karyotypes.

Abortion, Spontaneous↗
PubMed1979

Isolated congenital ectopia lentis with autosomal dominant inheritance.

Although autosomal dominant inheritance of isolated ectopia lentis has been described, the literature contains old and unclear reports concerning the evaluation of skeletal or metabolic abnormalities. We report a family in which congenital isolated ectopia lentis occurs in five members of two generations in a pattern consistent with autosomal dominant inheritance.

Adult↗
PubMed1979

The excitation of mammalian central neurones by amino acids.

1. The relative potencies of a number of analogues of L-glutamate as excitants of thalamic neurones in the rat have been compared. The most powerful compounds were kainate, ibotenate and (+/-)cis-1-amino-1,3-dicarboxycyclopentane. The D- and L-isomers of glutamate and aspartate were also compared. Whereas D-glutamate is approximately one-half as active as the L-form, D-aspartate is more potent than L-aspartate. 2. Computer analysis has indicated that ibotenate and cis-1-amino-1,3-dicarboxy-cyclopentane have relatively fixed and similar C alpha-N, Comega-N and C alpha-Comega interatomic distances which can also be achieved by glutamate in certain conformations of the molecule, but not by aspartate. 3. Parallel examination of the antagonists glutamate diethylester and D-alpha-aminoadipate has shown that the former preferentially reduces L-glutamate effects while the latter blocks the actions of other amino acid excitants more readily than those of L-glutamate. 4. The evidence is consistent with the hypothesis that at least two populations of neuronal receptors for the excitatory amino acids exist.

Action Potentials↗
PubMed1979

Abnormal skin fibroblast cytogenetics in four dysmorphic patients with normal lymphocyte chromosomes.

Four patients with features suggestive of chromosome disorders but with normal lymphocyte karyotypes were found to have chromosome aberrations in skin fibroblast karyotypes. Although mosaicism for chromosome abnormalities in lymphocyte cultures is common, apparent restriction of mosaicism to one tissue is unusual. We suggest that after examination of lymphocyte karyotypes, certain patients warrant cytogenetic evaluation of a second tissue, usually cultured skin fibroblasts.

Adolescent↗
PubMed1979

The transport by hepatocytes of immunoglobulin A from blood to bile visualized by autoradiography and electron microscopy.

Polymeric myeloma IgA, labelled with 125I, was injected intravenously into rats that were killed 5, 30, or 60 min later and the livers removed, fixed and sectioned. Autoradiographs of ultra-thin sections examined in the electron microscope showed that the IgA first became bound to the plasma membrane of the hepatocytes but after 30 min much of it was transported across their cytoplasm and became localized around the bile canaliculi. At this time, autoradiographs of 1 micrometer sections examined in the light microscope showed the contents of the bile ducts in the portal tracts to be labelled heavily. These results confirm the previous finding of rapid transport of IgA across the liver and show directly that the hepatocytes are the cells that carry it out. No intracellular organelle or vesicular structure, discernible within the resolving power of the techniques used, could be implicated in the transport mechanism.

Animals↗
PubMed1978

Possible maternal effect on severity of neurofibromatosis.

62 patients with neurofibromatosis (from 54 families) whose signs or symptoms began in childhood were assessed as to the severity of disease and whether the individual was a new mutation or born to an affected father or mother. The morbidity of disease was much more severe in cases born to affected mothers than in those born to affected fathers or those who were new mutations. This finding suggests that there may be a maternal effect in neurofibromatosis similar to that which has been observed in myotonic dystrophy. This effect may be humorally mediated.

Adolescent↗
PubMed1978

Cattle twins and freemartin diagnosis.

Some cattle breeding improvement programmes particularly in continental Europe aim to reduce the costs of rearing calves by increasing the number suckled by each cow. This encourages the rearing of twins and an increase in the number of heifers born twin-to-bull. Many of these are offered in the market and bought on the assumption that they are single-born. A large proportion will be freemartins and therefore irremediably sterile. Theories of the aetiology of the freemartin condition are summarised. The anatomical, haematological and chromosomal characteristics are described. Diagnostic methods based on these characteristics are described and compared. The clinical method is recommended as reliable in all but a small proportion of cases. The clinical signs of the freemartin at age three to six weeks are the absence of the external os, and a vagina length of 5 inches (12 cm) or less. The veterinary surgeon is encouraged to make the diagnosis on these clinical signs alone.

Animals↗