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Biomedical subjects

R H Reindollar

Publications and source records attributed to R H Reindollar.

At least 37 records · Page 2Linked to original sources

Ultrasound prediction of follicle volume: is the mean diameter reflective?

OBJECTIVE: To evaluate the relationship between 2 dimensional sonographic measurement of ovarian follicles and their actual volume. DESIGN: Prospective clinical study. SETTING: The in vitro fertilization (IVF) program of a University based, tertiary care hospital. PATIENTS AND INTERVENTIONS: Sonographic categorization by shape, and measurement of 96 individual ovarian follicles immediately prior to aspiration for IVF. Each follicle was aspirated under direct ultrasound guidance and the volume recorded. The 96 follicles were visualized in a total of 14 patients from whom 2 to 27 oocytes were obtained. MAIN OUTCOME MEASURE: Total volume of each follicle. RESULTS: Round and polygonal follicles exhibited a highly significant relationship between sonographically measured mean diameter and total follicle volume. The volume of follicles that were categorized as ellipsoid was not predicted by measurement of the longest diameter, shortest diameter or mean diameter. CONCLUSION: The mean diameter of round and polygonal follicles accurately predicts total follicular volume. However, clinical decisions in ovulation induction should be modified when the follicle shape is predominantly ellipsoid because the traditionally held belief that the sonographic measurement of the follicular diameter correlates with the follicular volume does not apply in those circumstances.

Female↗

Rapid identification of deoxyribonucleic acid sequence differences in cytochrome P-450 21-hydroxylase (CYP21) genes with denaturing gradient gel blots.

Denaturing gradient gel electrophoresis was used to identify single-base differences in the cytochrome P-450 21-hydroxylase (CYP21) genes of 132 unrelated control individuals and family members of three unrelated patients with 21-hydroxylase deficiency. The salt-wasting variety was caused by gene deletion and gene conversion/deletion mutations in affected members of two families studied. The simple virilizing form, present in the third family, was caused by an apparent point mutation not detectable by routine Southern blots. We have detected many restriction fragment melting polymorphisms in the CYP21 genes of the members of both salt-wasting families and normal individuals with denaturing gradient gel electrophoresis. We also identified a restriction fragment melting polymorphism specific for the simple virilizing patient in the third family. The data demonstrate that the CYP21 genes are highly polymorphic and that denaturing gradient gel electrophoresis is useful for genomic deoxyribonucleic acid analysis of patients with 21-hydroxylase deficiency.

Adrenal Hyperplasia, Congenital↗

Canalization failure of the müllerian tract.

A patient is described with canalization failure of the müllerian system. This patient presented with primary amenorrhea and absence of the vagina. At the time of laparotomy, a uterus of normal size and shape was found with two small areas of canalization. This syndrome, associated with absence of the vagina, appears to result from a defect occurring later in development than does classical müllerian aplasia. Pathological examination of the patient's uterus supports the tenant that canalization begins after fusion and at various places along the line of fusion.

Adolescent↗

Further study and characterization of the yellow pigments in follicular fluid that are related to oocyte quality.

OBJECTIVE: To characterize the 455-nm (yellow) absorbing pigments in human follicular fluid (FF). DESIGN: Serum and FF samples obtained from patients undergoing in vitro fertilization were analyzed for carotenoids, bilirubin, and beta-glucuronidase concentrations. Spectrophotometric analysis in the visible spectrum was performed on FF samples, and the delta OD455 absorbance was calculated. RESULTS: Thin-layer chromatography confirmed the presence of beta-carotene and bilirubin in FF. The mean (+/- SD) contribution of bilirubin and carotenoids to the FF delta OD455 absorbance was 64% +/- 9.6% and 22.7% +/- 12.1%, respectively. Bilirubin fractions in serum and FF samples were then compared. The median unconjugated bilirubin concentration in FF was lower than that in the serum (0.130 versus 0.288 mg/dL; P < 0.0001). The median conjugated bilirubin concentration was higher in the FF when compared with the serum (0.129 versus 0.101 mg/dL; P = 0.0018). beta-Glucuronidase levels in the FF were significantly lower when compared with serum concentrations. CONCLUSIONS: Bilirubin is the major contributor to the FF 455-nm spectrophotometric peak. The higher levels of conjugated bilirubin noted in the FF could in part be explained by the lower levels of beta-glucuronidase.

Bilirubin↗

Gonadotropin-releasing hormone-associated peptide gene sequences in women with hyperprolactinemia.

OBJECTIVE: To determine if mutations in the structural gene for gonadotropin-releasing hormone (GnRH)-associated peptide are present in women with hyperprolactinemia. DESIGN: Patients with hyperprolactinemia and controls were studied retrospectively for GnRH-associated peptide gene mutations. SETTINGS: Patients seen in a clinical setting were studied at a medical school laboratory setting. PATIENTS: Fifteen women with hyperprolactinemia and two fertile controls with normal prolactin levels were studied. INTERVENTIONS: Genomic deoxyribonucleic acid (DNA) was extracted from each patient and subjected to Southern blot analysis and polymerase chain reaction (PCR). For Southern blot analysis, DNA was digested with EcoRI, XbaI, BglII, PstI, and BamHI and hybridized to two DNA probes for GnRH-associated peptide. Exons II to IV, which encode for the structural gene, were amplified by PCR. MAIN OUTCOME MEASURES: Fragment sizes from autoradiographs were compared among patients and controls. Amplified PCR products of exons II to IV of the GnRH-associated peptide were also compared. RESULTS: No large deletions, insertions, or polymorphisms were identified in women with hyperprolactinemia or controls by Southern blotting. Each of the exons was present and of normal size by PCR in the study patients and controls. CONCLUSIONS: No large deletions of the GnRH-associated peptide gene appear to be present in our patients with hyperprolactinemia. Small deletions, insertions, or point mutations are not excluded by this analysis.

Adolescent↗

Rubella susceptibility of an infertile population.

The recent trend reported by the CDC reaffirms that rubella continues to be a health care issue and should be a concern particularly for those who care for women in the childbearing age group. Immunization of all susceptible women will not only offer them protection but reduce the pool of susceptible individuals that can transmit the disease.

Antibodies, Viral↗

Prenatal diagnosis of 21-hydroxylase deficiency by the complementary deoxyribonucleic acid probe for cytochrome P-450C-21OH.

The availability of the complementary deoxyribonucleic acid probe for cytochrome P-450C-21OH and the identification of specific gene defects in some families with congenital adrenal hyperplasia have made prenatal diagnosis feasible. Deoxyribonucleic acid samples from amniocytes of a fetus at 16 weeks' gestation, one previously affected son, and their parents were digested with the restriction enzymes Tag1 [corrected] or EcoRI and hybridized to the cytochrome P-450C-21OH complementary deoxyribonucleic acid probe. The previously affected son and the fetus both lacked the Tag1 [corrected] 3.7 kb band. At the time of delivery, the second child had a cord blood 17 alpha-hydroxyprogesterone level of 8000 ng/dl. The absence of the 3.7 kb Tag1 [corrected] fragment in affected members of this family made possible the use of deoxyribonucleic acid analysis for prenatal diagnosis.

17-alpha-Hydroxyprogesterone↗

Serum and peritoneal lavage fluid CA-125 levels in endometriosis.

Serum and peritoneal lavage fluid CA-125 levels were assayed in 20 women with endometriosis and 20 control women at the time of laparoscopy. Serum levels of CA-125 were significantly higher in women with endometriosis. Peritoneal lavage fluid CA-125 levels were significantly higher than serum levels but showed no significant difference between control and endometriosis patients. Peritoneal lavage fluid CA-125 did not follow expected dilution curves when attempts were made to validate the assay. Serum CA-125 levels were a more sensitive indicator of endometriosis, than peritoneal lavage fluid CA-125 levels.

Adult↗

Transurethral ultrasound-guided oocyte retrieval for in vitro fertilization.

Thirty-nine follicular aspirations for in vitro fertilization were performed in 30 patients. Oocyte retrieval was performed by laparoscopy in 21 cases and ultrasound-guided transurethral aspiration in 18 cases. All procedures were performed by the same ovarian stimulation protocol and the same aspirating needle. In the laparoscopy group 150 oocytes were recovered from 177 follicles aspirated (85%). The fertilization rate was 69% (104/150) and cleavage rate, excluding triploidy, was 82% (85/104) for oocytes obtained by laparoscopy. Five clinical pregnancies occurred in the laparoscopy group for a pregnancy rate of 24% per cycle and 25% per transfer. In the transurethral ultrasound-guided group 77 oocytes were recovered from 103 follicles aspirated (75%). The fertilization rate was 79% (61/77) and cleavage rate, excluding triploidy, was 90% (55/61). Three pregnancies occurred for a pregnancy rate of 17% per cycle and 18% per transfer. None of these differences were statistically significant. Transurethral ultrasound-guided oocyte retrieval is a feasible alternative to laparoscopy for in vitro fertilization.

Female↗

A cytogenetic and endocrinologic study of a set of monozygotic isokaryotic 45,X/46,XY twins discordant for phenotypic sex: mosaicism versus chimerism.

Newborn monozygotic twins with phenotypic sexual discordance were diagnosed with 45,X/46,XY gonadal dysgenesis. Cytogenetic studies of peripheral blood (serial), skin, and gonad were performed. Serial comparative gonadotropin data and luteinizing hormone-releasing hormone stimulation tests were obtained. A phenotypically normal male twin was found to have a significant number of 45,X cells only in lymphocytes and was considered endocrinologically intact. The sexually ambiguous twin sister demonstrated a significant number of 45,X cell lines in all tissues and was considered endocrinologically agonadal. These data demonstrate the role of the 45,X karyotype on abnormal gonadal formation and function and make possible different etiologies for the 45,X cell line in both twins. While mosaicism is likely for both, chimerism is possible for the normal male.

Adolescent↗

Abnormalities of sexual differentiation: evaluation and management.

Normal male and female sexual differentiation begins with gametogenesis. Both male and female sexual differentiation follow a timetable of events with predictable development of the gonads, internal genital ducts, and the external genitalia. Completed sexual maturation occurs during the pubertal years. Abnormalities of sexual differentiation may occur at any step along the way. The abnormalities may result in abnormal differentiation of the gonads, the internal genital ducts, or the external genitalia. The end result of these abnormalities produces predictable clinical syndromes. While many of these defects of sexual differentiation are evident at birth, others will not be identified until puberty at which time the patient may manifest aberrant external maturation or may remain sexually infantile. Genital ambiguity in a newborn represents a true medical emergency. Early and expedient diagnosis is essential to avoid life-threatening crises, to determine sex-of-rearing, to provide for appropriate immediate and long-term treatment, and to assure that the family is provided adequate genetic counseling. Medical and surgical treatment should begin during the birth hospitalization and the child should leave the hospital with his or her external genitalia concordant with sex-of-rearing. Finally, the emotional well-being of the family unit requires appropriate education and ongoing counseling.

Counseling↗

Adult-onset amenorrhea: a study of 262 patients.

A series of 262 patients with amenorrhea of adult onset are reported. Hypothalamic suppression followed by inappropriate positive feedback, and then hyperprolactinemia and ovarian failure are the most frequently encountered etiologies. Other etiologies are diverse and numerically less frequent. Amenorrhea after use of oral contraceptives, or postpill amenorrhea, occurred in 77 (29%) of all patients. The average age of presentation, prior menstrual history, associated morbidity, and subsequent reproductive potential of each diagnostic group are reported. Adult-onset amenorrhea has a less significant impact on future wellbeing than was reported for a similar-sized group of patients whose amenorrhea developed as a result of pubertal aberrancy.

Adult↗

Use of two different deoxyribonucleic acid probes to detect Y chromosome deoxyribonucleic acid in subjects with normal and altered Y chromosomes.

Four experiments evaluated the sensitivity and specificity of molecular techniques to detect human Y chromosome deoxyribonucleic acid. In experiment I, electrophoretic separation of normal male deoxyribonucleic acid fragments after digestion with endonuclease Hae III revealed two male-specific bands of 3.4 and 2.1 kilobase (kb). These bands were not visible if the fraction of male deoxyribonucleic acid in mixed samples was less than 0.3. In experiment II, by means of a repetitive copy Y deoxyribonucleic acid probe (pS4) mapped to Yq12, a male-specific 2.3 kb band was detectable in mixtures of 2.5 ng of male deoxyribonucleic acid and 997.5 ng of 45,X female deoxyribonucleic acid. In experiment III, hybridization with the pS4 probe was performed on the deoxyribonucleic acid of 20 subjects with a normal or a variant Y chromosome. In experiment IV, deoxyribonucleic acid from the same subjects was hybridized to a single copy probe (4B-2) mapped to the Yq11 region. Deoxyribonucleic acid from category A subjects (n = 8) with cytologically normal Y chromosomes hybridized to both deoxyribonucleic acid probes. Deoxyribonucleic acid from category B subjects (n = 2), including a variant Y chromosome that was negative for Q-banding but positive for C-bands, hybridized with the distal pS4 and proximal 4B-2 probes. Deoxyribonucleic acid from category C subjects (n = 10) with variant Y chromosomes uniformly negative for Q- and C-bands, did not hybridize with the pS4 probe. Deoxyribonucleic acid from three of the 10 category C subjects did hybridize to the more proximal sequence-detecting 4B-2 probe. Deoxyribonucleic acid from the remaining seven subjects in category C did not hybridize with either of the deoxyribonucleic acid probes.

Adolescent↗

The effects of single-dose luteinizing hormone-releasing hormone on ovulatory menstrual function: support for a single luteinizing hormone- and follicle-stimulating hormone-releasing factor.

Ten ovulatory women were followed with gonadotropin and steroid determinations through two cycles. They were given 500 micrograms of luteinizing hormone-releasing hormone (LH-RH) during the periovulatory period of the second cycle to determine whether ovulation could be facilitated without altering corpus luteum function. Successive cycles demonstrated concordance for patterns of gonadotropin and steroid secretion when studied as group means. Two control cycles and one treatment cycle were consistent with luteal phase defects. The use of a supramaximal dose of LH-RH in these women neither facilitated ovulation nor adversely affected luteal function. A significant linear correlation was noted between peak LH and follicle-stimulating hormone (FSH) values for the spontaneous surges. This same linear relationship was maintained for the LH and FSH responses to 500 micrograms LH-RH. The present data produce further evidence demonstrating that the secretion of LH and FSH appears to be modulated by gonadal steroids and under the permissive control of a single gonadotropin-releasing hormone.

Adolescent↗

The efficacy of bromocriptine in patients with ovulatory dysfunction and normoprolactinemic galactorrhea.

The response to bromocriptine therapy of 12 infertile women with ovulatory dysfunction and euprolactinemic galactorrhea was studied. Four of the subjects had anovulation, four had oligo-ovulation, and four had delayed ovulation. Serum PRL levels in all 12 subjects were less than 20 ng/ml. Normal ovulation occurred at least once in all of the patients on bromocriptine therapy and in 38 of 41 (92%) of the cycles. Seven patients (58%) conceived promptly with bromocriptine therapy, and all subjects had cessation of galactorrhea within 1 month of the onset of therapy. The seven pregnancies included five normal term vaginal deliveries, one premature vaginal delivery, and one tubal pregnancy. The results of this study should be considered preliminary but suggest that the presence of euprolactinemic galactorrhea in patients with ovulatory dysfunction may still represent a covert disorder of PRL physiologic factors. The prompt correction of these ovulation disturbances gives supporting evidence for this hypothesis and suggests that a short trial of bromocriptine therapy may be warranted after minimal blood sampling. The differential outcome between our group of patients produces further evidence that variable mechanisms may be operative.

Adult↗

Pubertal aberrancy. Etiology and clinical approach.

A study of 252 patients with pubertal aberrancy was done at the Medical College of Georgia. Patients were classified into hypogonadal and eugonadal categories. Ovarian failure is the most common cause of delayed sexual development. Congenital absence of the uterus and vagina and physiologic delay of puberty follow as frequently diagnosed etiologies. Pubertal aberrancy is no longer considered a benign entity since it is associated with morbidity, mortality and significant compromise of reproductive potential. The physical, emotional and social well-being of these patients is dependent upon expedient evaluation and treatment and on appropriate education and counseling.

Adolescent↗