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Biomedical subjects

J G Hall

Publications and source records attributed to J G Hall.

At least 19 recordsLinked to original sources
PubMed1992

Nontraditional inheritance.

It has become clear in recent years that not all forms of inheritance follow classical mendelian laws regarding the equal contribution from both parents. These nontraditional modes of inheritance and gene expression include cytoplasmic inheritance, mosaicism, uniparental disomy, and genomic imprinting. All of these have been implicated in human genetic disorders and cancers and thus need to be kept in mind when trying to understand unusual observations in the clinic as well as when providing genetic counseling.

Chromosome Aberrations↗
PubMed1992

Fellowships and career development in dysmorphology and clinical genetics.

This article sets forth some guiding principles for the initiation of a productive and satisfying academic career as a clinical researcher in the areas of dysmorphology, teratology, and clinical genetics. It assumes that the fellow in dysmorphology and clinical genetics is genuinely committed to the pursuit of a career in this area, but these general principles are certainly relevant to other medical specialties. It is important for pediatricians to consider careers in this area because the need for dysmorphologists and clinical geneticists will continue to increase during the foreseeable future, and the current opportunities for such training are limited.

Career Mobility↗
PubMed1979

Warfarin embryopathy.

Explore the source record for details and available documents.

Abnormalities, Drug-Induced↗
PubMed1979

Posterolateral (Bochdalek's) diaphragmatic hernia in sisters.

Two siblings with identical left posterolateral diaphragmatic (Bochdalek's) hernias are described. To our knowledge, there is one earlier description of siblings in which the diaphragmatic defects have been defined as posterolateral. The observation of these two families with a defect that is usually sporadic raises the possibility of etiologic heterogeneity among posterolateral defects of the diaphragm. Although overall recurrence risk is probably small, prenatal diagnosis by ultrasound should be possible and may improve perinatal management in familial cases.

Female↗
PubMed1979

The Summitt syndrome: observations on a third case.

A 6 1/2 year old male presented with acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum, and marked obesity. Roentgenograms of the hands revealed hypoplasia or aplasia of the middle phalanges. Roentgenograms of the feet revealed hypoplasia of the middle phalanges and deformity of the proximal phalangeal epiphyses of the great toes. Chromosomes studies revealed a normal 46,XY karyotype, and psychological testing revealed low normal intelligence. Current data support autosomal recessive inheritance, although X-linkage cannot be excluded.

Child↗
PubMed1979

Lack of effect by substance P at sites in the substantia gelatinosa where Met-enkephalin reduces the transmission of nociceptive impulses.

In alpha-chloralose anaesthetized spinal cats, Met-enkephalin amide (M-ENKA) and substance P were administered electrophoretically in the substantia gelatinosa while studying the excitation of deeper spinal neurones by noxious and non-noxious cutaneous stimuli. At sites where Met-enkephalin selectively reduced excitation by noxious skin stimuli, substance P was without effect. This result does not support the hypothesis that enkephalins are released at axo-axonic synapses on the terminals of substance P releasing primary afferent fibres.

Action Potentials↗
PubMed1979

Supraspinal inhibition of spinal neurones responding to nociceptive stimulation.

A study of the tonic descending inhibition present on neurones of laminase IV and V in the lumbar spinal cord of anaesthetized cats has been made employing reversible blocking of the spinal cord by cooling. The results suggest that neurones of both laminase are subject to a similar degree of inhibitory control and imply that they are equally important to the spinal transmission of noxious input.

Animals↗
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↗