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Biomedical subjects

H Gordon

Publications and source records attributed to H Gordon.

At least 73 records · Page 4Linked to original sources
PubMed1989

Glycosaminoglycan variants in the C2 muscle cell line.

Using a replica technique, we have isolated and characterized five genetic variants of the C2 mouse muscle cell line that are defective in incorporation of radiolabeled sulfate into glycosaminoglycans (GAGs). The variants incorporate free sulfate into GAGs at 5-20% of wild-type levels. None of the variants is defective in sulfate transport across the cell membrane, and in no case could the deficit in incorporation of sulfate be reversed by addition of an artificial initiator of GAG biosynthesis, p-nitrophenyl beta-D-xyloside. Analysis of the incorporation of [3H]glucosamine into GAGs by the variants revealed three different patterns: one variant incorporated [3H]glucosamine at the wild-type level; one, S27, at a severely reduced level; and three at intermediate levels. Four of the five variants showed marked deficits in their ability to differentiate and fuse. The remaining variant, S27, formed multinucleated myotubes and expressed acetylcholine receptor with a normal time course. Differentiation of the first four variants could not be restored by addition of exogenous GAGs or extracellular matrix. Because of the important roles that GAGs and proteoglycans are thought to play in the differentiation of muscle, these genetic variants should serve as useful tools in functional analyses of these molecules.

Animals↗
PubMed1989

Carrier identification of cystic fibrosis by recombinant DNA techniques.

As a result of recent advances in molecular genetics, carrier testing for cystic fibrosis (CF) is now available as a clinical assay in a limited number of laboratories. Because neither the gene nor the mutation for this disorder has yet been defined, the analysis relies on an indirect approach that uses DNA sequence polymorphisms and linkage analysis. With use of this general approach, several family members, in addition to those persons seeking carrier information, must be tested. Currently, more than 97% of families are "fully informative" when these markers are used in a linkage analysis; thus, the carrier status of most persons who have a relative with CF can be determined. Recently, strong linkage disequilibrium has been shown between two polymorphic loci (defined by the DNA probes KM.19 and XV-2c) and the CF locus. Because of this important finding, haplotype testing can be used in many clinical settings, such as for families in which a DNA sample is not available from the affected person or for those families in which one spouse has no family history of CF and the other is either affected or is at a high risk of carrying the CF mutation. Overall, the application of recombinant DNA techniques has greatly enhanced the ability to determine, with a high level of accuracy, the carrier status of those persons at risk for inheriting the CF mutation.

Cystic Fibrosis↗
PubMed1989

Ileal pouch-anal anastomosis: comparison of results in familial adenomatous polyposis and chronic ulcerative colitis.

The aim of this study was to compare the immediate postoperative results and the long-term outcome of ileal pouch-anal anastomosis in 94 patients with familial adenomatous polyposis to those in 758 patients with ulcerative colitis. Two colitis patients died after operation (0.3%), but no polyposis patients died. Overall operative complications appeared in 26% and 29% of polyposis and colitis patients, respectively (NS). Reoperation for intestinal obstruction did not differ between the two groups, but sepsis requiring reoperation was more common in colitis patients (6%) than in polyposis patients (0%, p less than 0.04). At follow-up (mean, 3 years), polyposis patients had fewer daytime stools (4.5 stools per day), less nighttime fecal spotting (26%), and less pouchitis (7%) than colitis patients (5.8 stools per day; spotting, 40%; pouchitis, 22%; p less than 0.002). The conclusion was that polyposis patients tolerated the operation better and had less long-term disability than did colitis patients. The data suggest that postoperative sepsis, daytime stooling frequency, nocturnal incontinence, and pouchitis may be, at least in part, disease related and not surgeon or operation related.

Adenomatous Polyposis Coli↗
PubMed1988

Appearance and regulation of an antigen associated with limb regeneration in Notophthalmus viridescens.

Previous reports from this laboratory have documented a cellular antigen, 22/18, associated with regeneration of forelimbs in the newt Notophthalmus viridescens (Kintner and Brockes: Nature 308:67-69, 1984; Journal of Embryology and Experimental Morphology 89:37-55, 1985; Brockes: Science 225:1280-1287, 1984; Kintner et al.: Molecular Basis of Neural Development, 1985). The antigen is expressed at various stages of regeneration in several types of cells including Schwann cells and muscle cells. We report here that, in addition to the previous results, the expression of 22/18 occurs very early in the regeneration process and is initially confined to an apparently nonmuscle, non-neural population of cells. The well-defined context of the antigen's first appearance has allowed us to investigate the regulation of its expression. In particular, injury is sufficient to elicit the appearance of 22/18. It can appear prior to mitosis and despite denervation. In circumstances where regeneration is inhibited, expression of 22/18 can persist.

Animals↗
PubMed1988

Familial pericentric and paracentric inversions of chromosome 1.

We investigated 33 individuals (21 carriers) from one family with a pericentric inversion involving a large part of chromosome 1 (1p36.1----1q32). In addition, we investigated 15 individuals (10 carriers) from another family with a paracentric inversion of a small part of chromosome 1 (1p32----1p36.1). In each family, the index patient was ascertained because three miscarriages had occurred. Each carrier of these inversions was phenotypically normal. If the miscarriages of the index patients are excluded, the frequency of recognized miscarriages among the carriers of childbearing age was 9% (4 of 46) for the family with pericentric inversion and 17% (4 of 23) for the family with paracentric inversion. One of the pericentric inv(1) carriers had had a stillborn daughter. The carriers of the pericentric inversion who were of childbearing age had 41 children; carriers of the paracentric inversion who were of childbearing age had 19 children. No live-born children with birth defects were observed in either family. This evidence, together with the low frequency of miscarriages, suggests that crossover within the inversion loop occurs much less frequently than might be expected from the large size of this inversion. Our investigation suggests that the risk of recognized miscarriages, stilbirths, and live-born children with recombinant chromosomes who have birth defects may be much lower for inv(1) carriers than previously reported. The risk of having a malformed child because of a recombinant chromosome is probably less than 3% for carriers of the pericentric inversion and less than 6% for the carriers of the paracentric inversion.

Chromosome Banding↗
PubMed1988

Active management of labor associated with a decrease in the cesarean section rate in nulliparas.

Active management of labor was introduced as the standard policy for the care of nulliparas in labor in a London maternity hospital. The basis of this management is, first, a strict diagnosis of labor and second, the early diagnosis and prompt treatment of dystocia. This study describes the outcome in 1000 consecutive nulliparas who were actively managed. In this multiracial population, active management was associated with a decrease in the cesarean section rate, without any evidence of an increase in perinatal mortality or morbidity. The results indicate that active management can be safely applied outside of Ireland to reduce the incidence of cesarean childbirth. It is suggested that this approach to the management of dystocia in labor be evaluated in the United States in a randomized controlled trial.

Cesarean Section↗
PubMed1987

Facial mimics and the coronal brow lift.

The classic rhytidectomy leaves the upper third of the face without improvement. Yet the eye-eyebrow region is the most influential in determining facial expressions. There is only a narrow range of positions of the eyebrows in which they are perceived as attractive. The influence of the coronal browlift on facial mimics is discussed as it seems to be a way to predictably reposition the eyebrows and improve crow's feet and forehead, and glabellar wrinkles at the same time. The results of 56 patients surveyed 1-3 years postoperatively are presented.

Eyebrows↗
PubMed1987

Chromosomally abnormal clones and nonrandom telomeric translocations in cardiac myxomas.

Cardiac myxomas from eight patients were examined cytogenetically in short-term cultures. Cultures could not be established in two of the eight cases. Chromosomally abnormal clones occurred in two of the myxomas; their karyotypes were 45,X,-Y,+7,-18 and 45,X,-Y. In three other myxomas, we found a rare kind of telomere-to-telomere translocation between chromosomes. The telomeres predominantly involved in these three tumors were the 2qter (the end of the long arm of chromosome 2), the 12pter (the end of the short arm of chromosome 12), and Yqter (the end of the long arm of the Y chromosome), respectively. In one other myxoma, 20% of the cells were tetraploid. These findings support the concept that myxomas are neoplastic; those with an abnormal clone may even have malignant potential. The unusual telomere-to-telomere translocations were not observed in a clonal pattern. They may represent a specific type of chromosomal instability associated with a defect in repair or replication of telomeric DNA.

Adult↗
PubMed1987

Marfan syndrome diagnosed in patients 32 years of age or older.

The Marfan syndrome, a generalized inherited disorder, is usually diagnosed in young patients and is associated with a poor prognosis. With use of our diagnostic-retrieval system, we identified 28 patients with the Marfan syndrome who were 32 years of age or older at the time of diagnosis. These patients had at least two of four major diagnostic criteria for the Marfan syndrome--a confirmed family history, a long-limbed habitus, dislocated lenses, and disease of the aortic root. In these relatively older patients, some clinical findings (the ocular disorder and the family history) corresponded to the expected findings in younger patients with the Marfan syndrome; however, the proportion of those with cardiovascular disease was greater. Echocardiography has improved the potential for detection of the cardiac lesions, the most frequent cause of death in these patients. Early diagnosis of the Marfan syndrome is important so that complications of the cardiac lesions can be prevented or delayed and so that genetic counseling can be done at an appropriate time.

Adult↗
PubMed1986

Deaths of two hospital inpatients poisoned by pilocarpine.

Two inpatients of one hospital ward died. Pilocarpine poisoning was suspected and subsequently confirmed by analysis of urine. The circumstantial evidence strongly suggested that the food given to the patients in the ward had been adulterated. Police inquiries failed to elicit any further information, and open verdicts were returned at the inquest. Precautions taken subsequently to prevent a similar event--sealing food containers and trolleys--entailed a capital cost of 43,000 pounds. In addition, food stores were kept locked and tighter control kept on drugs stored in ward pharmacies.

Aged↗
PubMed1986

Dominant inheritance of the complex of myxomas, spotty pigmentation, and endocrine overactivity.

We describe a family in which lentigines were present in the index patient, in three of her seven siblings, in their mother, and in a niece (the daughter of an affected sister). Cutaneous myxomas were present in the index patient, in two of her brothers, and probably in their mother. In addition, the index patient had two cardiac myxomas. multiple myxoid mammary fibroadenomas, and the Cushing syndrome, and an affected brother had acromegaly caused by a growth hormone-secreting tumor of the pituitary gland. Thus, at least one manifestation of the complex of myxomas, spotty pigmentation, and endocrine overactivity has occurred in three successive generations of this family. Both male and female family members were affected, and 5 of the 11 children of affected persons had the disorder. The karyotypes of two affected persons were normal. These observations are consistent with mendelian dominant inheritance of the syndrome.

Adolescent↗
PubMed1985

Fetal subcutaneous scalp PO2 and abnormal heart rate during labor.

Intrapartum fetal heart rate and subcutaneous scalp PO2 were continuously measured with a combined electrocardiogram-PO2 needle electrode in 34 patients. The incidence of fetal heart rate abnormalities increased significantly with decreasing subcutaneous PO2, from 0.8% of the 10-minute periods in which subcutaneous PO2 was greater than or equal to 25 mm Hg to 53% of the periods in which subcutaneous PO2 was less than 10 mm Hg.

Electrodes↗