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Biomedical subjects

W G Sanger

Publications and source records attributed to W G Sanger.

90 records · Page 5Linked to original sources
PubMed1986

Results of semen cryopreservation in young men with testicular carcinoma and lymphoma.

Sixty-two young men with testicular carcinoma (31 patients) or lymphoma (31 patients) were referred for semen analysis and possible cryopreservation before systemic therapy. Seventy-seven percent of the patients, 24 patients with testicular carcinoma and 24 patients with lymphoma, had semen with a decreased chance for fertility (ie, sperm density less than 20 X 10(6)/mL and/or less than 40% motile sperm and/or decreased sperm motility). A decreased number of motile sperm as well as a poor grade of motility appeared in the majority of semen specimens from both patient groups. However, 14 patients had semen that met our criteria for fertility with sperm density greater than or equal 20 X 10(6)/mL, greater than or equal 40% motile sperm, and motility grade greater than 2. Semen quality appeared to be better in patients referred immediately after diagnosis than in patients in whom there was a delay between diagnosis and referral for semen cryopreservation. Twelve patients with semen meeting our criteria for possible fertility and 42 patients failing our criteria elected to cryopreserve semen. A median of three collections per patient were stored. To date, seven patients have withdrawn semen for artificial insemination by husband attempts, and two of these attempts have resulted in pregnancies. Both attempts involved patients with semen that meet our criteria for potential fertility. In the minority of young men with lymphoma or testicular carcinoma who have good-quality semen, semen cryopreservation can preserve reproductive potential after therapy that might otherwise cause sterility.

Adult↗
PubMed1985

Pregnancy in a woman with the Brachmann-de Lange syndrome.

We present the first reported pregnancy in a woman with the Brachmann-de Lange syndrome. This 24-year-old primagravid woman was originally seen at 13 weeks of pregnancy with manifestations consistent with this diagnosis. High-resolution chromosome studies, performed on lymphocytes, showed a normal 46,XX chromosome constitution. Because of the stage of pregnancy at which she presented, a genetic amniocentesis was simultaneously performed for chromosome analysis on the fetal cells, which were also normal (46,XX). The uncomplicated pregnancy was monitored carefully and at 37 1/2 weeks of gestation she delivered a clinically normal-appearing female infant.

Amniocentesis↗
PubMed1984

Specific syndromes and associated communication disorders: a review.

The purpose of this review is to provide speech-language pathologists and special educators with an awareness of genetics and specific syndromes that involve a speech, language, or hearing component. Both genetic and environmental etiologies are discussed. A description is provided for some of the physical anomalies associated with selected syndromes that also include speech and language deficits. These are presented to provide a rationale for the speech-language pathologist as well as special educators to become more active team members in the identification of syndromes, promote early remedial intervention, and increase interaction with other disciplines in dealing with the multihandicapped child.

Child↗
PubMed1984

Inherited partial trisomy #15 complicated by neuroblastoma.

The proband in this study had multiple congenital malformations and a constitutional 46,XY,-13, + der(13),t(13;15)(q34;q23)mat chromosome complement. A bone marrow aspirate revealed neuroblastoma, and cytogenetic studies on tumor cells revealed, in addition to the partial trisomy #15 and probable partial monosomy #13, hypotetraploidy with a mean chromosome number of 82-84, including 3 or 4 copies of each autosome, 2 X chromosomes, no Y chromosome, and a marker. Translocations involving chromosomes #1, #2, #3, #7, and #14 were present, along with multiple double minutes. The possibility that the inherited partial trisomy #15 (and/or partial chromosome #13 monosomy) predisposed to neuroblastoma and additional chromosome changes in this tumor is discussed.

Chromosome Aberrations↗
PubMed1984

Cancer cytogenetics.

Explore the source record for details and available documents.

Chromosome Aberrations↗
PubMed1983

A possible etiology of the infertile 46XX male subject.

We report on an infertile male patient with the predominant 46XX female karyotype. A testicular biopsy revealed widely separated testicular tubules, absence of sperm formation and large numbers of Leydig cells. Chromosome studies, including measurements of the X chromosomes, showed a significant difference between the lengths of the short arm of the 2 X chromosomes. This information lends support for an X-Y chromosome interchange as the etiology of this syndrome. The clinical features of this rare syndrome and other theories of etiology of XX male subjects are discussed.

Adult↗
PubMed1981

Sister chromatid exchange in aged human lymphocytes. A brief note.

A study of the sister chromatid exchange (SCE) frequency in peripheral lymphocytes from 26 human subjects, with in vivo age of the cells as the variable, demonstrated a significant increase in SCE frequency with increasing age of the subject (analysis of variance: p less than 0.01). The cells were cultured in Eagles' basal medium with 5-bromodeoxyuridine added to a final concentration of 10 microM. These results are contradictive to the brunt of the literature which indicates that background SCE frequency does not change with age.

Adolescent↗
PubMed1981

Increased frequency of sister-chromatid exchanges in alcoholics.

The frequency of SCES was significantly increased in the alcoholics analyzed (10.6 &/- SD 0.66) when compared to the frequency of a control group (8.4 &/- SD 0.51). Statistical analysis of the data obtained showed that the increase was not apparently related to age, sex, cigarette smoking, duration in years of alcohol abuse, nutritional status or type of alcoholic beverage commonly consumed by the individual. Alcoholics recovering for at least one year from alcohol abuse were examined and the frequency of SCES was found to be equal to the SCE frequency in the control group. There was no statistical significance between the age, sex of the individual, smoking history and years of abstention from alcohol abuse with respect to the frequency of SCES. Therefore, one year of abstention appears sufficient to allow the SCE frequency to return to that found in the control group. In order to keep extraneous factors at a minimum and to analyze the effect of a particular factor, such as alcohol, on the number of SCES, a careful medical history and screening program was followed. However, more information is needed to determine which factors play a role in causing genetic damage and inducing SCES and to determine the significance SCES may have with respect to genetic information and function.

Adult↗
PubMed1981

A unique Y/Y translocation in an infertile male.

A monocentric and submetacentric Y/Y translocation without evidence of mosaicism was observed in a male with tall stature and azoospermia. Chromosome measurements of the abnormal Y of this patient and the normal Y of his father were undertaken to determine more precisely the chromosome break points in this translocation. The measurements failed to show a definite loss of chromatin from the original short arm of the proband's Y chromosome. The azoospermia and infertility in our patient, in contrast to his father, suggest that infertility may be associated with this specific Y/Y translocation in human males.

Adult↗
PubMed1976

Clastogenic effects of methylnitrosourea and ethylnitrosourea on chromosomes from human fibroblast cell lines.

Human fibroblast cell lines were pulse-treated for 1 h with either methylnitrosourea (MNU) or ethylnitrosourea (ENU) at various time intervals before harvesting for chromosome analysis. Cells treated with 1 X 10(-3) M, 5 X 10(-4) M, and 1 X 10(-4) M final concentrations of MNU and ENU during the G2 or M phases of the cell cycle showed a significant increase in chromatid-type abnormalities over controls. Cells exposed to MNU or ENU 23 h before harvest showed some chromosome-type abnormalities, reflecting probable damage induced during the G1 phase of the cell cycle or derived from chromatid damage induced during the previous cell cycle. The mitotic indices and incidences of abnormalities suggested a dose response effect when cells were treated with the two higher concentrations and the three concentrations, respectively, of MNU or ENU. Chromatid abnormalities were observed in MUN and ENU-treated cells from each of four cell lines. From this investigation, it was concluded that MNU and ENU treatment of human diploid cell lines in vitro induced both chromatid and chromosome aberrations. MNU and ENU, both of which had previously been shown to be mutagenic in experimental animals, are, therefore, also considered to be mutagenic at the chromosome level in human fibroblasts grown and treated in cell culture.

Cell Line↗
PubMedDate not supplied

Detection of mosaicism in amniotic fluid cultures: a CYTO2000 collaborative study.

PURPOSE: To evaluate the assumptions on which the American College of Medical Genetics (ACMG) Standards and Guidelines for detecting mosaicism in amniotic fluid cultures are based. METHODS: Data from 653 cases of amniotic fluid mosaicism were collected from 26 laboratories. A chi-square goodness-of-fit test was used to compare the observed number of mosaic cases with the expected number based on binomial distribution theory. RESULTS: Comparison of observed data from the in situ colony cases with the expected distribution of cases detected based on the binomial distribution did not reveal a significant difference (P = 0.525). CONCLUSIONS: The empirical data fit the binomial distribution. Therefore, binomial theory can be used as an initial discussion point for determining whether ACMG Standards and Guidelines are adequate for detecting mosaicism.

Amniotic Fluid↗
PubMedDate not supplied

Chromosomes and neoplasia.

Specific chromosome changes are consistently observed in numerous types of neoplasms. These chromosome changes are generally seen only in malignant cells and are not present in somatic cells. Associations of an increased incidence of cancer following exposure to certain chromosome breakage agents, in chromosome instability syndromes, and in patients with gene or constitutional chromosomal imbalances, suggest that chromosomal changes play a role in the etiologies of malignancies. The purpose of this paper is to review briefly chromosomal aberrations in cancer in relation to etiology. Awareness of the probable multiple causes of human cancer and the importance of multidisciplinary collaboration in the investigation of these diseases are essential for a better understanding of this complex group of diseases.

Chromosome Aberrations↗
PubMedDate not supplied

Feasibility of semen cryopreservation in patients with malignant disease.

Twenty-two young men with testicular carcinoma or lymphoma were referred for semen cryopreservation before therapy that was expected to render them infertile. Criteria for potential fertility in the semen analysis after thawing included as sperm density of 20 x 10(6)/mL, motility in at least 40% of the spermatozoa, and an average motility grade of 2+. Five of the patients (23%) had semen qualities meeting the criteria for potential fertility. In contrast, 30 of 50 normal men (60%) of similar age screened for participation in an artificial insemination by donor program had semen meeting the criteria. Although the mechanism is not certain, it appears that young men with testicular carcinoma or lymphoma are significantly less likely to be candidates for serum cryopreservation than are healthy young men.

Adult↗