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Biomedical subjects

M G Wilson

Publications and source records attributed to M G Wilson.

At least 91 records · Page 5Linked to original sources
PubMed1982

Proopiolipomelanocortin peptides in normal pituitary, pituitary tumor, and plasma of normal and Cushing's horses.

Using RIAs for six regions within proopiolipomelanocortin (proOLMC), gel filtration, and electrophoresis, we studied pituitary peptides in a normal horse and one with Cushing's disease caused by a pars intermedia adenoma. Almost all immunoreactive (IR) ACTH (78%) was 4,500 mol wt (4.5K) ACTH in normal pars distalis, but it was almost 100% corticotropin-like intermediate lobe peptide (CLIP) in normal pars intermedia. alpha MSH and beta MSH were found mainly in pars intermedia: equal concentrations of the beta MSH precursors, beta-lipotropin (beta LPH) and gamma LPH, were found in pars distalis. Most IR-beta-endorphin (IR-beta END) was found as beta END in pars intermedia, but roughly equal concentrations of beta END and its precursor, beta LPH, were found in pars distalis. A 33K molecule containing IR-ACTH, IR-gamma 3MSH, and IR-beta END, presumed to be proOLMC, and a variety of 15-27K presumed biosynthetic intermediates were found in both normal pars distalis and pars intermedia. The pars intermedia adenoma causing Cushing's syndrome contained high IR-peptide concentrations. Several differences in precursors were noted, including the presence of three larger presumed precursors (38.5K, 47K, and 63K) that had both ACTH and beta END immunoreactivities and both deletions and additions of 15-27K intermediates. The Cushing's horse's plasma peptides reflected tumor concentrations; 4.5K ACTH was modestly elevated, but the concentrations of CLIP, alpha MSH, beta MSH, gamma LPH, and beta END were dramatically increased. About 20% of plasma IR-ACTH and 5% of IR-beta MSH and IR-beta END were found as high molecular weight forms. Normal processing of horse proOLMC appears to be similar to that in other species, but may be altered in pars intermedia tumors of horses with Cushing's disease, the plasma of which contains disproportionately increased concentrations of pars intermedia proOLMC peptides.

Adrenocorticotropic Hormone↗
PubMed1981

Genetic and clinical studies in 13 patients with the Wolf-Hirschhorn syndrome [del(4p)].

Clinical and cytogenetic studies are reported on 13 patients with Wolf-Hirschhorn syndrome. The oldest of the living twelve probands is 24 years of age. Three of these patients had a translocation involving the short arm of chromosome 4, and in one of these the anomalous chromosome was inherited from the father. Another three patients were believed, on the basis of GTG-staining, to have a translocation although the origin of the translocated chromatin could not be identified. In the remaining seven patients the anomalous chromosome appeared to be a simple deletion, although in two cases a translocation could not be ruled out. Cytogenetic studies in these patients suggest that the critical deletion involved in Wolf-Hirschhorn syndrome is within 4p16.

Abnormalities, Multiple↗
PubMed1980

Regional assignment of genes for human esterase D and retinoblastoma to chromosome band 13q14.

The expression of human esterase D was evaluated quantitatively and qualitatively in five persons with partial deletions or duplications of chromosome 13. The results showed that the locus of this enzyme is at band 13q14. Deletion of this same band in other subjects has been found previously to indicate a predisposition to the development of retinoblastoma, which was present in the four individuals in this study who had partial deletions of chromosome 13. Because of this close synteny, esterase D evaluation should aid in the diagnosis and genetic counseling of retinoblastoma.

Chromosome Deletion↗
PubMed1980

The Celestin tube in the treatment of benign oesophageal strictures.

Celestin tubes have been used in two groups of patients with advanced benign oesophageal strictures. Group 1 consisted of 22 elderly, poor risk patients in whom intubation alone, via a gastrotomy, has provided good symptomatic relief of dysphagia. In 11 younger, better risk patients (group 2), it has been used as a temporary indwelling dilator in combination with repair of the hiatus hernia and has been removed at a mean of 5 months postoperatively. Seventy-three per cent of patients have remained free of recurrence when followed up for 2 years.

Adult↗
PubMed1980

Decreasing mosaicism in Down's syndrome.

A girl with trisomy-21/normal mosaicism has been observed for approximately 10 years. Her appearance is reminiscent of, but not typical for Down's syndrome, and her intellectual abilities are impaired but not to the same severe degree expected in Down's syndrome. These observations are consistent with the belief that, in persons ascertained by clinical resemblance to Down's syndrome. The cytogenetic studies performed longitudinally demonstrated a significant decrease in the proportion of blood lymphocytes showing the trisomic line. The maximal decrease occurred in the first year of life. A direct preparation from the bone marrow and a fibroblast culture at 2.5 months showed 3 and 4% trisomic cells, respectively, corresponding to the level of trisomic cells from the blood cultures during the second year of life.

Bone Marrow↗
PubMed1980

Deficits in space-form perception in patients with sex chromosome mosaicism (45,X/46,XY).

Several studies have shown that selective deficits in space-form perception are found in patients with Turner's syndrome, associated with 45,X or a structural anomaly of an X chromosome. The authors sought to determine whether significant deviations from normal or from Turner's syndrome (relative to space perception) occur when a Y chromosome is present. The four patients studied, aged between 4 1/2 and 24 years, had a karyotype of 45,X/46,XY and a phenotype ranging from sexual ambiguity at birth to typical Turner's syndrome. Although all were in the normal intelligence range (IQ 80 or above), on testing they demonstrated below-average ability in tasks involving visualization of spatial forms, and their drawings were generally immature. The results suggest that patients with sex chromosome mosaicism X/XY may have similar deficits in space-form perception and orientation to those previously demonstrated in Turner's syndrome.

Adolescent↗
PubMed1979

Syndromes associated with deletion of the long arm of chromosome 18[del(18q)].

We studied eight persons whose karyotypes demonstrated deletion of a portion of the long arm of chromosome 18. Seven of these persons who showed the typical del(18q) syndrome had a common deletion in band 18q21, most likely band q21.3, and in at least two persons the deletion was interstitial. Another mentally retarded child, dissimilar in appearance, had a more proximal deletion within band 18q12. Two different clinical syndromes resulted from deletions of these different segments of the long arm of chromosome 18.

Abnormalities, Multiple↗
PubMed1978

A fetus with recombinant of chromosome 8 inherited from her carrier father.

A pericentric inversion of chromosome 8, inv(8)(p23q22), in a male carrier resulted in an unbalanced recombinant, rec(8)dup q, inv(8)(p23q22), which was diagnosed prenatally. The features seen in the aborted fetus resembled the features seen in a previously affected child who received the identical recombinant from her carrier mother. In this particular inversion involving chromosome 8, both male and female carriers risk producing an unbalanced progeny. Different familial pericentric inversions are reviewed for the presence or absence of unbalanced recombinants.

Abortion, Spontaneous↗
PubMed1977

Chromosomal anomalies in patients with retinoblastoma.

Karyotypes from 50 persons with retinoblastoma confirmed by histopathological examination were studied by conventional staining and Giemsa-banding techniques. Two chromosomal anomalies were found. An interstitial deletion of the long arm of No. 13 chromosome was identified by Giemsa-banding in the karyotypes from a boy with unilateral retinoblastoma. Another boy with unilateral tumor had a karyotype of 47,XXY. These findings provide additional evidence that a deletion of chromosome No. 13, most likely involving band 13q14, is associated with the development of retinoblastoma. In conjunction with other reports, our findings also suggest that retinoblastoma may be found more frequently in children with chromosomal aneuploidy.

Adolescent↗
PubMed1976

Needle puncture of fetus: a complication of second-trimester amniocentesis.

Needle puncture of the fetus has rarely been reported with midtrimester amniocentesis. This paper contains the report of five cases of needle scars in infants born after second-trimester amniocentesis for prenatal diagnosis of fetal genetic disorders. Since this complication may be more frequent than has been previously believed, there is the possibility that damage to the fetus may occur. It is suggested that the products of all abortions and all live-born and stillborn infants delivered following amniocentesis should be examined for evidence of injury.

Amniocentesis↗
PubMed1976

Two alpha-glucosidases in cultured amniotic fluid cells and their differentiation in the prenatal diagnosis of Pompe's disease.

A sensitive fluorometric assay utilizing 4-methylumbelliferyl-alpha-D-glucopyranoside has been developed for the determination of alpha-glucosidase. The enhanced sensitivity was achieved by increasing the solubility of the substrate with a water miscible organic solvent. With this system, cultured amniotic fluid cells were found to have two major forms of alpha-glucosidase with somewhat overlapping acidic pH optima; one with pH optimum at 4.5 is deficient in Pompe's disease (type II glycogenosis), while one with pH optimum at 6.0 is not affected in this disease. Specificity for the pH 4 form of alpha-glucosidase was achieved by exploiting the greater thermal lability of the pH 6 enzyme. The pH 6 form of the enzyme was also detectable in freshly prepared extracts of cultured fibroblasts. The procedure is direct and simple and has been applied to the prenatal diagnosis in two pregnancies at risk for Pompe's disease.

Amniotic Fluid↗
PubMed1976

Ring Y chromosome without mosaicism.

A 53-year-old man with a short stocky build, mild mental retardation, gynecomastia and hypogonadism was found to have a small ring Y chromosome unassociated with mosaicism. The ring Y was represented by a minute portion of chromatin or sometimes paired dots which were no larger than the short arm of the normally expected Y. No brightly fluorescent segment of the ring Y was present nor was it observed elsewhere in the karyotype. A primary medical problem was severe osteoarthritis, necessitating bilateral hip arthroplasties. Plasma testosterone was markedly decreased and plasma gonadotropins were increased. Potency was improved following testosterone injections. We conclude that genes responsible for testicular differentiation, maleness and possibly height are located close to the centromere of the Y chromosome, possibly on both the short and long arm. We also conclude that multiple genes are required for a fully developed male phenotype and apparently some of these genes were deleted or not expressed in this patient.

Chromosome Aberrations↗