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Biomedical subjects

H Gordon

Publications and source records attributed to H Gordon.

At least 145 records · Page 8Linked to original sources

Exclusion of the HLA locus from a large portion of the long arm of chromosome 6.

HLA antigens were determined in two infants with multiple congenital anomalies and in their healthy parents and one sibling. One infant had a deletion of a major portion of the long arm of chromosome 6. The other child had a translocation of a similar piece of chromosome 6 to the short arm of chromosome 3. The mother and the maternal grandmother showed this translocation in a balanced state. The HLA types of both children and their parents exclude the localization of the major histocompatibility locus from the deleted or translocated portion of the long arm of chromosome 6.

Abnormalities, Multiple↗

A computer-based videodensitometric system for studying banded human chromosomes illustrated by the analysis of the normal morphology of chromosome 18.

A computer-based, high-resolution, high-speed system is described for the digitization of television images of human G-banded chromosomes, on-line directly from a microscope. The digitized data are processed by a computer to determine the total length and centromere index of individual chromosomes and to obtain an integrated density profile representing the band pattern. The density profile is reduced by the computer to a series of dark and light bands, each with a defined position, width, and density. The results are displayed by the computer on a television monitor in a form that simulates routine laboratory preparations and that allows cytogenetic inspection. The system is easy to operate, and it includes a wide range of options for operator interaction to ensure reliability. The results of the computer analysis of the no. 18 chromosomes from five cells from each of 10 different persons demonstrated the usefulness of the system for detecting, measuring, and analyzing individual bands in human populations and its application to establishing band patterns of chromosomes in different states of contraction.

Azure Stains↗

Family studies of lactase deficiency in the American Indian.

To determine the pattern of inheritance of lactase deficiency, we studied 104 American Indian and 2 white subjects in 19 families. Subjects were considered deficient in lactase if breath-hydrogen excretion exceeded 0.20 ml per min above fasting at 2 hr after a lactose load of 2 g per kg of body weight (maximum 50 g). Seventy-one per cent of the males and 75% of the females were lactase deficient. In three families in which both parents were lactase normal, 40% of the children were lactase deficient; and in the three families with one parent lactase normal and the other lactase deficient, 65% of the children were deficient in lactase; and finally, in the seven families with both parents lactase deficient, 93% of the children were lactase deficient. This distribution of lactase deficiency in the families suggests that this trait shows an autosomal-recessive pattern of inheritance.

Adolescent↗

Usefulness of chromosome examination in the diagnosis of malignant pleural effusions.

To determine whether chromosome analysis could facilitate the diagnosis of malignant pleural effusions, we examined chromosomes in effusions from 104 unselected patients. An effusion was regarded as malignant if at least three of 30 metaphase cells were hyperdiploid or contained a marker chromosome. Results were compared with standard cytologic diagnoses. All 22 benign effusions were diagnosed correctly by cytologic examination, but one nosed correctly by cytologic examination, but one (acute rheumatoid lung disease) was misclassified as positive by chromosome criteria. Of the 82 malignant effusions, 53 (65 per cent) were diagnosed correctly by cytologic tests, as compared with 58 (71 per cent) by chromosome analysis (P greater than 0.2). Among patients with malignant neoplasms, 13 had leukemia or lymphoma; only four of these (31 per cent) were diagnosed by cytologic tests as compared with 11 (85 per cent) by chromosome analysis (P less than 0.01). The combination of standard cytologic and chromosome analyses correctly identified 83 per cent of the neoplasms, a result significantly better than that with either technic alone (P less than 0.01).

Aged↗

Idiopathic hypertrophic subaortic stenosis associated with cutaneous neurofibromatosis: report of a case.

Although idiopathic hypertrophic subaortic stenosis has been studied extensively, its etiology has remained elusive. Recent reports of its association with neuroectodermal syndrome suggest that at least some cases may be the manifestation of a heritable defect of neuroectoderm. Consistent with this hypothesis, we report a case of idiopathic hypertrophic subaortic stenosis associated with neurofibromatosis.

Aortic Stenosis, Subvalvular↗

Lactate and malate dehydrogenase and alpha-esterases in oligospermia.

Lactate dehydrogenase (LDH), malate dehydrogenase, and alpha-esterase were studied electrophoretically in a total of 99 semen samples obtained from normal, vasectomized, oligospermic, and infertile males. The enzymatic patterns were compared with total sperm count and percentage sperm motility. Lactate dehydrogenase X was absent in semen samples from oligospermic as well as vasectomized males. An extra LDH band (between the second and third LDH bands) was detectable in samples which had a low sperm count but higher motility (80 to 90%). This extra band was absent in samples with higher sperm count regardless of the level of percentage motility, suggesting that the extra band possibly may be related to motility factors of low sperm count but not normal sperm count. The fastest moving alpha-esterase bands were absent in samples from oligospermic or vasectomized males. These bands were also absent in samples from infertile patients having a very low sperm count. It is not clear whether the fast-moving esterase bands are related to sperm count or possible differences in hormonal levels of individuals with low or zero sperm count samples. The patterns of malate dehydrogenase did not differ in individuals with zero, low, or normal sperm count.

Electrophoresis, Starch Gel↗

Luteinizing hormone secretion in patients presenting with post-oral contraceptive amenorrhoea: evidence for a hypothalamic feedback abnormality.

Twenty-four patients who presented with amenorrhoea after discontinuing oral contraceptives were studied. In fourteen patients underlying conditions were present which could account for the amenorrhoea. Two patients were pregnant, two had premature ovarian failure and four polycystic ovarian disease. Pituitary tumours were present in three patients, and in another three radiological abnormalities of the pituitary fossa suggested the presence of an intrasellar tumour. Basal serum luteinizing hormone levels reliably differentiated ovarian from hypothalamic or pituitary lesions. Varied patterns of serum LH response to clomiphene were present in the patients with post-oral contraceptive amenorrhoea or pituitary lesions. Most patients showed normal hormone response patterns, with a secondary LH peak, but in others a partial response only was seen. In the latter group, who responded normally to exogenous gonadotrophin releasing hormone, no secondary LH peak occurred despite normal oestradiol responses. This suggests an abnormality of the positive feedback system for oestrogens. Subsequent stimulation with clomiphene produced normal LH responses in these patients showing that the abnormality was reversible. These findings are consistent with the hypothesis that post-oral contraceptive amenorrhoea is the result of continuing suppression of normal hypothalamic pituitary feedback systems after the sex steroids have been stopped. The different patterns of hormone response to clomiphene suggest varying degrees of feedback abnormality, and in some patients the positive feedback mechanism only is impaired.

Adolescent↗

Host factors in chronic obstructive pulmonary disease in an upper Midwest rural community. Design, case selection, and clinical characteristics in a matched-pair study.

A series of 111 index subjects with chronic obstructive pulmonary disease (COPD) who had forced expiratory volume in 1 second (FEV1) of 70% or less of that predicted were matched on the basis of age, sex, occupation, and smoking history with control subjects who had an FEV1 of 85% or more of that predicted. Index and control subjects with seasonal or reversible airway disease were excluded. Men outnumbered women by a ratio of 4.5 to 1. Thirty-five percent of the women and 2% of the men were nonsmokers (0 pack-years). There were three PiZ phenotypes in the index group (two nonsmokers) and none in the controls. PiMZ phenotypes in the index group outnumbered those in the controls by 8 to 5. Host factors that might be important in these closely matched pairs were sought by history, physical examination, and a large battery of laboratory tests. A standard respiratory questionnaire revealed the anticipated significantly higher frequency of cough, phlegm, noisy respiration, and all grades of dyspnea in index subjects. Previous lower respiratory tract infections also were more frequent in index subjects than in controls. There were no detectable differences between groups in the frequency of upper airway infections, nasal polyps, sinus surgery, or reported allergy to any substance. If the British Medical Research Council's definition of chronic bronchitis were applied to our study, about two-thirds of our index subjects and almost one-third of our controls would be considered to have chronic bronchitis. Pack-years of smoking were not significantly associated with the amount and duration of cough and expectoration in male or female index subjects or controls. Significant differences between index and control groups on physical examination included the audible forced expiratory flow time over the trachea, the estimated maximal midexpiratory flow, breath sounds, rales, and total excursion of the hemidiaphragms. An endocrine questionnaire and measurement of blood sex hormones did not give any clues as to the propensity of males to develop COPD. Women with airway obstruction similar to that of men had histories of significantly fewer pack-years than did the men, and there was a much larger proportion of women who never smoked. Further studies, specifically on genetic and immunologic characteristics, are under way to identify potential host factors.

Bronchitis↗

Pregnancy, prolactin, and pituitary tumours.

Nine pregnancies are described in patients with pituitary tumours. All patients had definite radiological evidence of a pituitary tumour and no evidence of acromegaly or Cushing's disease. In seven patients serum prolactin levels were estimated before pregnancy and found to be raised.Seven patients had been treated with pituitary implantation of yttrium-90. The remaining two developed complications of the tumour during pregnancy. One developed a bitemporal visual field defect in the second trimester which was successfully treated by emergency yttrium-90 implantation. The other developed diabetes insipidus in the third trimester which resolved spontaneously after delivery.Six patients were treated with drugs to achieve pregnancy. Four took bromocriptine to suppress raised prolactin levels, one was treated with human menopausal gonadotrophin, and one was treated with clomiphene.

Adult↗

Althesin as an induction agent for Caesarean section.

Thirty patients for elective lower segment Caesarean section were randomly divided into two groups. One group received 50 mulitre/kg of Althesin for induction of anaesthesia and the other, 100 mulitre/kg. The two maternal groups were similar. There was no significant difference in the clinical or biochemical status of the infants except that infants in the low dose group had a significantly higher PO2 in the umbilical venous and arterial blood.

Adult↗

A diploid-triploid human mosaic with cytogenetic evidence of double fertilization.

The karyotype 46,XX/69,XXY was found in a 13-year-old mentally subnormal patient with club feet, strabismus, eunuchoid habitus, small penis, midscrotal urethrovaginal opening, small descended left testis, and small undescended right testis; no ovarian tissue could be found at laparotomy. Triploid:diploid cell ratios were 60:40 and 4:96 in skin fibroblasts and curculating lymphocytes, respectively. In the triploid line, two of the no. 13 chromosomes had unusually large satellites and one of the no. 22 chromosomes had a brightly fluorescent zone on its short arms. The patient's father was heterozygous for both these autosomal markers; the mother carried neither marker. This, together with the single Y, indicated that the extra haploid set was derived from the father. Of several possible mechanisms, we favor the suggestion that double fertilization occurred; one sperm nucleus immediately fused with the egg nucleus producing the diploid line; the second sperm nucleus was incorporated later into one of the two cells resulting from the first division of the zygote, producing the triploid line.

Adolescent↗

A study of the effect of bromocriptine on serum oestradiol, prolactin, and follicle stimulating hormone levels in puerperal women.

Nine normal women were examined in the first 11 days of the puerperium. Serum prolactin, oestradiol and follicle simulating hormone (FSH) levels were measured and the FSH response to 100 mug of intravenously administered follicle stimulating hormone/lutenizing hormone-releasing hormone (LH/FSH-RH) was assessed on day 1 post partum in five subjects and on days 4 (two subjects), 6 and 7 post partum in the other four subjects. Bromocriptine therapy was given to six of these women and four to seven days after the start of such therapy, when prolactin levels had fallen to normal non-pregnant levels, these women were retested. Before bromocriptine treatment, the basal FSH levels were unmeasurable in six and low in one other of the nine subjects. After bromocriptine treatment, the basal FSH levels were measurable in four out of six patients and were higher than in the untreated patients (P less than 0-01). The FSH response to LH/FSH-RH was unmeasurable in eight out of nine before treatment, which is less than the response seen in 26 normal men and women (P less than 0-01). There was also no discernible FSH response to LH/FSH-RH after treatment with bromocriptine. Before treatment with bromocriptine, the serum prolactin levels were elevated in all nine women but were within the normal range for non-pregnant women after three days of bromocriptine therapy. Thus postpartum gonadotrophin suppression seemed to depend on high prolactin levels and at least part of the antigonadotrophic action of prolactin seemed to be at pituitary level.

Bromocriptine↗