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Biomedical subjects

L Plouffe

Publications and source records attributed to L Plouffe.

At least 37 records · Page 2Linked to original sources
PubMed1997

Paternal somatic and germ-line mosaicism for a sex-determining region on Y (SRY) missense mutation leading to recurrent 46,XY sex reversal.

OBJECTIVE: To determine the etiology for recurrent 46,XY sex reversal in a family with two Swyer siblings. DESIGN: Deoxyribonucleic acid (DNA) from peripheral lymphocytes and sperm were analyzed for duplication of the dosage sensitive sex locus (DSS) and for mutations in sex-determining region on Y (SRY). SETTING: An academic teaching hospital. PATIENTS: A family consisting of mother, father, and five phenotypic daughters, of which two were 46,XY sex-reversed females. INTERVENTION: Deoxyribonucleic acid (DNA) extraction, polymerase chain reaction (PCR), Southern blotting, dosage densitometry, single-strand conformation polymorphism (SSCP), and sequencing. MAIN OUTCOME MEASURE: Comparison of control and subject DNA. RESULTS: Deoxyribonucleic acid (DNA) analysis of SRY in genomic DNA from the 46,XY sex-reversed siblings revealed identical missense mutations (T-->G) in both sisters. Analysis of the SRY gene in paternal lymphocyte and sperm DNA revealed mosaicism for wild and mutant (T-->G) SRY sequences. SRY analysis of sperm DNA also demonstrated the same mosaicism for the T-->G missense mutation. CONCLUSION: A postembryonic SRY mutation gave rise to paternal mosaicism for two distinct cell populations (SRY+/SRY-). The presence of a wild type SRY in the somatic cell line may account for a normal pattern of male sexual differentiation, whereas the presence of a mutated SRY in the germ line resulted in two 46,XY sex-reversed offspring. These results confirm a proposed mechanism for the condition of recurrent 46,XY sex-reversed females.

Adolescent↗
PubMed1997

Esophageal atresia in an in vitro fertilization pregnancy.

Major congenital anomalies occur in approximately 4% of the newborn population. Although this risk is apparently the same for in vitro fertilization (IVF) pregnancies, couples having assisted reproduction therapy should receive appropriate genetic counseling, because coincidental maloccurrences are often erroneously linked to the technology. We report a case of newborn esophageal atresia with tracheoesophageal fistula occurring in an IVF pregnancy. Physicians are encouraged to educate all prospective parents regarding the rate of congenital anomalies in the general population so that they have realistic expectations concerning newborn outcome.

Adult↗
PubMed1996

Ovulation induction in clomiphene-resistant anovulatory women with normal dehydroepiandrosterone sulfate levels: beneficial effects of the addition of dexamethasone during the follicular phase.

OBJECTIVE: To evaluate the effect on ovulation of a 10-day course of dexamethasone (DEX) initiated concurrently with a 5-day course of clomiphene citrate (CC) in CC-resistant patients with normal DHEAS levels. DESIGN: Retrospective review. SETTINGS: Patients from the clinical practice of the authors at the Medical College of Georgia, Augusta, Georgia. PATIENTS: Thirteen oligomenorrheic women with normal DHEAS levels who failed to ovulate on a graduated regimen of CC up to a dose of 150 mg for 5 days. INTERVENTIONS: Ten-day course of DEX initiated concurrently with a 5-day course of CC; ovulation and pregnancy outcomes recorded. MAIN OUTCOME MEASURE: Pregnancy. RESULTS: Eleven of 13 women had evidence of ovulation. Five clinical pregnancies were achieved. CONCLUSION: These initial data support improvements in follicular development with an overlapping follicular phase regimen of CC and DEX in patients with normal DHEAS levels and a previous poor response.

Adult↗
PubMed1996

Ovarian cholelithiasis after laparoscopic cholecystectomy associated with chronic pelvic pain.

OBJECTIVE: To report a case of chronic pelvic pain associated with ovarian cholelithiasis and discuss prevention and management of this condition. DESIGN: Case report. SETTING: University hospital. PATIENT(S): A 39-year-old woman who presented with right lower abdominal pain after a laparoscopic cholecystectomy. INTERVENTION(S): Diagnostic laparoscopy followed by laparotomy with lysis of adhesions and removal of three to four dozen gallstones. MAIN OUTCOME MEASURE(S): Patient's subjective report of pain. RESULT(S): Resolution of patient's pain. CONCLUSION(S): Gallstones spilled into the peritoneal cavity may migrate and adhere to the dependent portions of the pelvis, potentially resulting in pelvic pain or infertility. This suggests the importance of removing inadvertently spilled gallstones at the time of surgery or using nonsurgical methods of gallstone management in reproductive-aged females.

Adult↗
PubMed1996

A review of the genetics of recurrent pregnancy loss.

The field of recurrent pregnancy loss (RPL) has seen a blossoming of investigations in the etiology and treatment of this condition over the last few years. Despite all of this activity, there remains much controversy in all aspects of the field. This ranges from discrepancies in the definition of recurrent pregnancy loss to elements in the work-up and the very existence of certain conditions for which aggressive therapeutic modalities are proposed. We will discuss the genetic component of RPL which is one of the few etiologies for RPL which has achieved near universal acceptance.

Abortion, Spontaneous↗
PubMed1994

Leuprolide acetate treatment of catamenial pneumothorax.

A 35-year-old nulligravid female with a 20 pack year history of smoking and continuous OC use since age 16 presented with recurrent pneumothoraces coinciding with the onset of menses at age 28. At that time she underwent a right partial pleurectomy and lobectomy, which demonstrated bullous disease but no glandular or stromal elements. Although catamenial respiratory discomfort persisted while on OCs, no pneumothoraces were documented until age 33 at which time she was given the diagnosis of catamenial pneumothorax. A diagnostic laparoscopy failed to demonstrate endometriosis or the presence of diaphragmatic defects. In an effort to preserve her fertility, she began a course of LA-GnRH-a therapy with depot LA. Because of disabling vasomotor and emotional side effects, continuous conjugated estrogens and MPA acetate were given as add-back therapy. She has remained symptom and side effect free for over 2 years on this regimen.

Adult↗
PubMed1994

Contribution of Molecular Biology to Pediatric and Adolescent Gynecology.

The authors address a few of the contributions that molecular biology has offered over the past five years to the fields of reproductive medicine and pediatric and adolescent gynecology. They cover a gamut of issues, from subtyping of human papillomavirus infection to the analysis of abnormal sexual differentiation.

Journal Article↗
PubMed1994

Techniques for early diagnosis of the abnormal fetus.

The phenomenal developments in molecular genetics and technological refinements which have occurred over the past decade are revolutionizing the area of prenatal genetics. State-of-the-art care commences with comprehensive preconceptional counseling. Prenatal diagnosis is now feasible from the moment of conception onward. Imaging techniques have allowed non-invasive diagnosis while minimally invasive techniques concentrate on sampling maternal blood for fetal cells or markers of feto-placental metabolism. Invasive techniques are rapidly expanding and becoming safer, comprising of chorionic villus sampling, early amniocentesis, midtrimester amniocentesis as well as very early fetoscopy and umbilical vein sampling.

Congenital Abnormalities↗
PubMed1993

Diagnostic and treatment results from a southeastern academic center-based premenstrual syndrome clinic: the first year.

OBJECTIVES: We attempted to ascertain the following: (1) the yield of a structured workup in a premenstrual syndrome clinic coordinated by a university-based gynecology department in the southeast, (2) referral patterns and care provided before consultation, and (3) therapeutic outcomes. STUDY DESIGN: The first 100 women seen prospectively entered a uniform diagnostic and treatment protocol. Data analysis was performed with analysis of variance and confidence interval for a population proportion. RESULTS: Thirty-eight women (95% confidence interval 28% to 48%) had premenstrual syndrome, 24 had premenstrual magnification syndrome (95% confidence interval 16% to 32%), 13 had an affective or other psychiatric disorder (95% confidence interval 6% to 20%). Only 44% of women previously given a diagnosis of premenstrual syndrome were found to have premenstrual syndrome. Overall, 84% of women with premenstrual syndrome and premenstrual magnification syndrome responded to treatment. CONCLUSIONS: Too many women are still given the diagnosis of premenstrual syndrome without appropriate prospective documentation. Premenstrual magnification represents an important diagnostic category. Therapeutic responses to present treatments are encouraging.

Adolescent↗
PubMed1993

Immunocytochemical study of insulin-like growth factor I and insulin-like growth factor I receptor in human endometrium during the normal menstrual cycle.

Our aims were to detect, using immunocytochemistry, IGFI and IGFI R in the human endometrium and to assess semiquantitatively their levels in the phases of the normal menstrual cycle. Twelve normal proliferative and 10 normal secretory endometrial samples were studied. Each specimen was subjected to an immunocytochemical peroxidase antiperoxidase protocol. The antibodies used to detect IGFI and IGFI R were, respectively, 3D1/2/1 and alpha 1R3. Analysis of variance (ANOVA) was performed to evaluate mean IGFI and IGFI R levels in the glandular epithelium and stroma of each sample while correcting for intra- and interobserver variation. These experiments show the presence of IGFI and IGFI R in human endometrium. There are significant variations in the IGFI and IGFI R levels from patient to patient within each cycle phase, and between glands and stroma within each sample. These findings highlight the importance of the use of in situ studies to clarify endometrial IGFI and IGFI R physiology.

Endometrium↗
PubMed1992

Repeated fetal losses associated with antiphospholipid antibodies: a collaborative randomized trial comparing prednisone with low-dose heparin treatment.

OBJECTIVE: We attempted to compare the use of low-dose heparin with a standard dose of 40 mg prednisone daily (both plus low-dose aspirin) for treatment of pregnant women with antiphospholipid antibody-associated recurrent fetal loss with respect to maternal and perinatal morbidity and efficacy in prevention of fetal death. STUDY DESIGN: A multicenter randomized trial included 20 patients. Generalizability of results from randomized patients was evaluated by means of additional data from 13 women refusing and 12 women ineligible for randomization. Data from study groups were compared with Fisher's exact test, and generalizability was evaluated with a chi 2 test for trend. RESULTS: Live birth rates were the same (75%) with either treatment, but "serious" maternal morbidity and the frequency of preterm delivery were significantly higher among women randomly assigned to prednisone (p = 0.02 vs p = 0.006). Preterm delivery among prednisone-treated women was usually associated with premature rupture of the membranes or preeclampsia. These results could be generalized to the other groups of women ascertained during the course of the study. CONCLUSIONS: Low-dose heparin should be preferred to prednisone when treatment is indicated for high-risk pregnant women with antiphospholipid antibodies.

Abortion, Habitual↗
PubMed1992

Absence of the testicular determining factor gene SRY in XX true hermaphrodites and presence of this locus in most subjects with gonadal dysgenesis caused by Y aneuploidy.

OBJECTIVES: The purpose of our study was to discover whether the testicular determining factor gene SRY (sex-determining region on Y) is present or absent in XX true hermaphrodites and in subjects with gonadal dysgenesis caused by Y aneuploidy. STUDY DESIGN: We screened five XX true hermaphrodites and 24 subjects with gonadal dysgenesis caused by Y aneuploidy for the presence or absence of SRY. With the polymerase chain reaction technique, the sequence coding the 80 amino acid-conserved motif was amplified. The 0.9 kb Hincll pY53.3 subclone, which covers the open reading frame of SRY, serves as a probe for Southern blot analysis. RESULTS: Test results for all five XX true hermaphrodites were negative for SRY. Conversely, 22 of the 24 individuals with 45,X/46,XY gonadal dysgenesis were positive for SRY, including the 10 subjects with only bilateral streak gonads. CONCLUSIONS: The absence of SRY in XX true hemaphrodites and the presence of SRY in 10 subjects with 45,X/46,XY constitution who harbored only bilateral streak gonads seem to indicate that multiple genes are involved in gonadal differentiation.

Aneuploidy↗
PubMed1992

Etiologic factors of recurrent abortion and subsequent reproductive performance of couples: have we made any progress in the past 10 years?

OBJECTIVES: We hypothesize that the diagnostic yield and pregnancy outcomes of patients with recurrent abortion have improved over the past 10 years. STUDY DESIGN: The study was performed in an academic medical center. Diagnoses and outcomes for group A, a published series of 100 patients investigated for recurrent abortion in the section between 1968 and 1977, was compared with those for group B, the 131 patients seen between 1987 and 1991. A standardized protocol was followed, enhanced by new techniques and autoimmune investigations in the latter group. Results were compiled retrospectively. Descriptive statistics and chi 2 analysis were used. RESULTS: No cause could be found in 37% of patients in group A compared with 24% of couples in group B (p less than 0.05). No clear difference could be shown in the subsequent outcomes of pregnancies. CONCLUSIONS: Our ability to establish a cause of recurrent abortion has improved slightly over the past 15 years. The gain is not yet reflected in successful pregnancy rates. Multicenter trials are indicated.

Abortion, Habitual↗