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Biomedical subjects

J S Schinfeld

Publications and source records attributed to J S Schinfeld.

At least 19 recordsLinked to original sources
PubMed2000

46,XY monozygotic twins with discordant sex phenotype.

OBJECTIVE: To analyze male and female sex differentiation in monozygotic twins. DESIGN: Retrospective study. SETTING: Multiple academic centers. PATIENT(S): A pair of monozygotic twins. INTERVENTION(S): Skin and blood samples were obtained for DNA analysis and karyotyping. MAIN OUTCOME MEASURE(S): Mutation within the SRY gene was analyzed by the polymerase chain reaction-single-stranded conformation polymorphism test. Monozygosity was ascertained by short tandem repeat analysis. Karyotypes were studied in blood and skin fibroblasts. RESULT(S): SRY was present in both twins, but no mutations were detected in the SRY conserved motif. Monozygosity was confirmed by the use of short tandem repeat analysis in four loci: c-fms, thyroid peroxidase, von Willebrand factor, and tyrosine hydroxylase. The karyotype was 46,XY uniformly in both twins. CONCLUSION(S): Monozygotic twins can develop discordant male and female phenotypes despite the presence of a common karyotype and despite the presence of intact testis-determining genes. In the present case, this could be due to mutation or to mosaicism involving occult 45,X cell lines in the dysgenetic gonads.

DNA-Binding Proteins↗
PubMed2000

Monozygotic twins of opposite sex.

Although discordant karyotypes are known in identical twins, cases involving differences in sex phenotype are rare. We studied identical twins with the 46,XY karyotype - a male with mixed gonadal dysgenesis and a female with "pure" gonadal dysgenesis. The testis-determining SRY gene was present in DNA from both twins but no mutations were detected in the SRY conserved motif. Monozygosity was indicated by short tandem repeat polymorphism analysis. These observations could be attributed to (i) mutation and mosaicism involving "downstream" sex-determining loci, (ii) variable penetrance of genes such as DSS/NR0B1, duplication of which can disrupt the male-determining pathway, or (iii) occurrence of cryptic 45,X gonadal cell lines.

Adolescent↗
PubMed1992

Incidental finding of endolymphatic stromal myosis during luteinizing hormone releasing hormone agonist therapy for suspected benign uterine myomata. A case report.

A 39-year-old woman with an enlarging myomatous uterus underwent a three-month course of luteinizing hormone releasing hormone (LHRH) agonist treatment. Despite a 50% reduction in uterine size, pathologic examination after uncomplicated hysterectomy revealed a low-grade endometrial stromal sarcoma. As the use of LHRH agonists for myoma reduction increases, delay in the diagnosis of sarcomatous disease will become more widespread. With current available diagnostic modalities, differentiation between sarcomatous and myomatous growth within the uterus is difficult. The possibility of delay in the diagnosis of unsuspected sarcoma when using LHRH agonists is an inherent and apparently unavoidable complication in some cases.

Adult↗
PubMed1991

Prevention of osteoporosis by medroxyprogesterone acetate in postmenopausal women.

The effect of medroxyprogesterone acetate 10 mg BID alone, conjugated estrogens alone or in a combination regimen for the prevention of osteoporosis was determined in 36 postmenopausal women using single photon densitometry. No significant differences in cortical or trabecular bone mass over time were detected in women between the three treatment groups, although a slight increase in bone mass was noted in women with the combined therapy. Medroxyprogesterone acetate appears efficacious in preventing postmenopausal osteoporosis, and may be especially useful in women with contraindications to estrogen replacement therapy.

Adult↗
PubMed1991

Technique for US-guided fallopian tube catheterization.

Various catheter techniques guided with fluoroscopy and ultrasound (US) have been developed to assist conception by opening fallopian tubes. The authors present a simplified US-guided technique with which they were able to catheterize a fallopian tube consistently and rapidly in 15 of 17 attempts by using a prototype catheter system that is in general use for sperm or embryo transfer.

Catheterization↗
PubMed1988

Catechol estrogen concentrations in maternal and umbilical circulation at different modes of delivery.

To investigate the role of catechol estrogens in human parturition, these steroids were analyzed in samples from the maternal venous and umbilical venous and arterial plasma at vaginal (n = 28) and abdominal (n = 28) delivery. To ensure the appropriateness of collection of umbilical artery and venous blood samples, progesterone content was also determined. Although there is no significant difference in maternal vein content of catechol estrogens between the two groups, the umbilical venous (p = 0.03) and arterial (p = 0.002) plasma concentrations are significantly higher at vaginal delivery than those measured at abdominal delivery. In view of the present data and the importance of catechol estrogens in prostaglandin synthesis and in potentiating the activity of catecholamines through competitive inhibition of catechol-O-methyltransferase, it is suggested that catechol estrogens may play a role in triggering the events involved in the onset of labor and delivery in humans.

Cesarean Section↗
PubMed1986

Correlation between the number of placental opioid receptors, mode of delivery, and maternal narcotic use.

Human placental opioid receptors were assayed using the radioactive opioid agonist, etorphine, to determine the number of binding sites in villous tissue membrane preparations. Significant differences in receptor concentration per milligram of protein of tissue were found between placentas obtained following vaginal or abdominal delivery (P less than 0.002). Labor itself did not alter apparent receptor numbers. In patients with maternal narcotic abuse during pregnancy, no opioid binding could be detected regardless of the mode of delivery, suggesting possible receptor down-regulation.

Cesarean Section↗
PubMed1986

Ethical considerations in the management of infertility.

Ethical issues arising in the day-to-day practice of infertility treatment are important and sometimes difficult. A couple's infertility problem usually has affective and social dimensions, sometimes disrupting their lives. Responsible care involves dealing with these psychosocial factors, including counseling and striving for informed patient decision making. The ethical problem of whether to provide treatment when the probability of success is low is sometimes complicated by a couple's desperate desire for fertility. In such cases the physician weighs various factors, including the risks of the procedure, the harm that might result from continuing infertility and the degree of the couple's understanding of the pros and cons. Issues of truth telling are raised by a lack of third-party reimbursement for infertility workup and treatment. Also, questions about when to refer or terminate the workup and therapy involve ethical reflection about potential conflicts of interest.

Disclosure↗
PubMed1984

The single woman and artificial insemination by donor.

Requests by single women for artificial insemination by donor (AID) raise important ethical issues concerning the obligations of physicians and the well-being of the children who would be conceived. Specific objections to AID for single women can be raised, including that the absence of a father may adversely affect the child or that a lesbian mother may influence the child to become homosexual. A review of the relevant social science research indicates, however, that these and other objections are not supported by the available data. In support of AID for single women it can be argued that the life of the child who would be produced could be expected to have value, considered in itself. Consideration of the various aspects of the issue suggests that AID for single women is permissible in selected cases and that the physician has a right to refuse to carry out such requests.

Adult↗
PubMed1983

Urinary catechol estrogens in cycles stimulated by human menopausal gonadotropin.

Catechol estrogens, estrogen metabolites of potential physiologic significance, were measured in infertile women undergoing ovulation induction with human menopausal gonadotropins. Urinary 2-hydroxyestrone (2-OH-E1) specimens were obtained from 12 women in one or more stimulated cycles. The actual time for the administration of human chorionic gonadotropin to induce ovulation was based on serial plasma estradiol (E2) specimens. A significant correlation between plasma E2 and urinary 2-OH-E1 was demonstrated, similar but more pronounced than that seen in normal cycling women. This confirms previous work that showed that 2-OH-E1 is the major urinary estrogen metabolite in the nonpregnant state and further suggests that urinary catechol estrogens are a useful index of ovarian function.

Estradiol↗
PubMed1983

Testicular hormone concentration in men with varicoceles: immediate effects of varicocelectomy.

As part of an investigation of the role of gonadal steroid concentrations and testicular function, testosterone (T), estradiol (E2) and dehydroepiandrosterone sulfate (DHEA-S) were measured in bilateral testicular biopsies from infertile men with varicoceles. The biopsies were performed randomly either immediately before or 1 hour after varicocelectomy in an effort to detect acute changes in testicular hormone concentrations. No significant differences were noted between these two groups nor was there consistent evidence of disturbed in vivo Leydig cell function. A wide range of testicular hormone concentrations was found in these biopsies, which did not correlate well with morphologic findings. This suggests that many different pathophysiologic conditions may exist in association with the presence of a varicocele.

Biopsy↗
PubMed1981

Ovarian failure in long-term survivors of childhood malignancy.

The frequency and causes of ovarian failure among 182 long-term survivors of childhood cancer were examined. Twenty-two patients (12%) had ovarian failure. Ovarian failure was found in 17 of 25 patients (68%) who had both ovaries within abdominal radiotherapy fields, in five of 35 patients (14%) whose ovaries were at the edge of the treatment field, and in none of 122 patients with one or both ovaries outside of an abdominal treatment field (p < 10(-4)). The odds for ovarian failure in patients with both ovaries in the field are 19.7 higher than those for other irradiated patients (95% confidence interval, 5.3 to 72.8). Covariate and multivariate analyses of tumor type, age at diagnosis, duration of follow-up, abdominal tumor surgery, abdominal radiotherapy, number of chemotherapeutic agents administered, and cumulative doses of several drugs revealed that the location of the ovaries relative to radiation treatment fields was the only risk factor for subsequent ovarian failure.

Abdominal Neoplasms↗