Professionalism in obstetrics-gynecology residency education: the view of program directors.

OBJECTIVE: To define the qualities of professionalism emphasized in obstetrics-gynecology residencies and identify existing means of evaluating them. METHODS: A survey, designed to assess the importance of professionalism in residency programs and what means are utilized for its development, was sent to all 270 obstetrics-gynecology residency program directors in the United States. RESULTS: Two hundred thirteen surveys were returned (79%). Ninety-seven percent of all respondents indicated that they thought the development of professionalism was necessary for training obstetrics-gynecology residents, and 84.3% thought that formal educational training time should be devoted to this development. Over 85% endorsed faculty examples and mentoring as their methods of teaching professionalism. Respondents ranked honesty; accountability to patients, colleagues, and society; respect for patients; integrity; and excellence as the most important qualities of professionalism. Almost 79% believed those qualities were as important and as necessary as qualities of skill and knowledge in residency training. Almost 80% of respondents thought that the establishment of formal professionalism guidelines would be valuable in their training programs. CONCLUSION: A critical quality in resident education is professionalism, which receives emphasis in training programs largely through faculty example and mentoring. The variability inherent in such methods might be reduced by residency wide guidelines for uniform application of standards and to avoid arbitrariness in enforcement.

Costello syndrome: phenotype, natural history, differential diagnosis, and possible cause.

We describe 8 patients affected with Costello syndrome including an affected sib pair and review the literature on 29 previously reported cases. We emphasize an association with advanced parental age, which is consistent with autosomal dominant inheritance with germline mosaicism. The pathogenesis appears to involve metabolic dysfunction, with growth disturbance, storage disorder appearance, acanthosis nigricans, hypertrophic cardiomyopathy, and occasional abnormalities of glucose metabolism. Although the cause is currently unknown, Costello syndrome is interesting because of a potential genetic-metabolic etiology.

Triage of abnormal postmenopausal bleeding: a comparison of endometrial biopsy and transvaginal sonohysterography versus fractional curettage with hysteroscopy.

OBJECTIVE: We sought to compare the combined diagnostic reliability of sonohysterography and endometrial biopsy with fractional curettage with hysteroscopy in the initial evaluation of postmenopausal women with abnormal uterine bleeding. STUDY DESIGN: This year-long, prospective, controlled, clinical investigation was initiated Sept. 1, 1995. All postmenopausal women with abnormal uterine bleeding were offered inclusion, with 104 enrolled. An endometrial biopsy was performed at the time of initial evaluation. Routine transvaginal ultrasonography was then used to measure the uterus, ovaries, and endometrial stripe thickness, followed immediately by sonohysterography to evaluate the symmetry of endometrial wall thickness and delineate any intraluminal masses. Definitive histopathologic sampling was obtained by fractional curettage with hysteroscopy and statistically compared with the diagnoses arrived at by endometrial biopsy and sonohysterography. RESULTS: The combination of endometrial biopsy and transvaginal sonohysterography positively correlated with the surgical findings >95% of the time, with a sensitivity and specificity of 94% and 96%, respectively (confidence interval 91% to 99%). No patients with endometrial hyperplasia or cancer were misdiagnosed. CONCLUSIONS: Sonohysterography combined with endometrial biopsy is a reliable office tool for evaluating postmenopausal women with abnormal uterine bleeding. Medical management of those patients identified as having no endometrial abnormalities can be considered with confidence, while saving the cost and surgical risk of fractional curettage. Patients with intraluminal masses should be referred for surgical management in a timely fashion.

Isovaleric acidemia: response to a leucine load after three weeks of supplementation with glycine, L-carnitine, and combined glycine-carnitine therapy.

OBJECTIVE: To assess the effectiveness of glycine and carnitine therapy on isovaleryl conjugate excretion in isovaleric acidemia (IVA). STUDY DESIGN: Urinary isovalerylglycine (IVG) and isovalerylcarnitine (IVC) were measured from 12-hour urine specimens collected overnight from an 8-year-old patient with IVA (who had no residual activity of isovaleryl-CoA dehydrogenase in fibroblasts) before and during 3-week courses of supplementation with glycine alone (250 mg/kg per day), L-carnitine alone (100 mg/kg per day) therapy, and both of these agents combined, with a 2 gm leucine challenge performed at the end of each treatment period. RESULTS: Isovalerylglycine was the predominant metabolite excreted throughout the study, and its mean value doubled with glycine treatment. Isovalerylcarnitine excretion was minimal without carnitine supplementation. L-Carnitine therapy was associated with a 50% decline in excretion of IVG without a fully compensatory increase in IVC. The readdition of glycine to the carnitine regimen resulted in an increase in IVG excretion. Leucine challenge resulted in a 2.7- and 2.4-fold increase of IVG and IVC excretion, respectively, during L-carnitine therapy but not during glycine supplementation, and a 3.5- and 4-fold increase in excretion of both metabolites during glycine plus L-carnitine therapy. Total conjugate excretion was highest after a leucine load during combined glycine and L-carnitine therapy. CONCLUSIONS: Combined glycine and L-carnitine therapy maximally increases isovaleryl conjugate excretion during metabolic stress but not under stable conditions.

Prenatal counseling in heterozygotes for ornithine transcarbamylase deficiency.

X-linked ornithine transcarbamylase deficiency (OTCD) often leads to fatal neonatal hyperammonemia in affected males (hemizygotes). In prenatal management of subsequent pregnancies, families carrying female fetuses are often reassured of the low risk of clinically overt disease. We suggest that such reassurance may be misleading. While OTCD heterozygotes may show no symptoms or only mild protein intolerance, the clinical course in a fraction of children can include manifestations similar to those in affected males. We present three cases of symptomatic and previously undiagnosed OTCD heterozygotes to illustrate the potential severity of this condition. Significant improvement in function and growth followed diagnosis and treatment; however, two of the three children remain significantly developmentally delayed. While a quantitative risk estimate cannot be derived from these data, the cases are indicative of an adverse outcome in manifesting heterozygotes. Accordingly, OTCD carrier families should be counseled regarding the possibility of significant hyperammonemia, neurologic deficit, and the need for pharmacologic and dietary intervention in their heterozygote daughters.

Facial features of infants exposed prenatally to cocaine.

Thirty two infants referred for in-patient genetics evaluation at the University of California at San Francisco, 1987-1992, were found to have a history of maternal cocaine use. Genetics reports and medical records were reviewed on all these infants to identify features distinctive for cocaine exposure. Among these 32 cases, 14 infants were exposed only to cocaine; 18 were exposed to alcohol and cocaine. The infants evaluated displayed a distinctive phenotype, consisting of neurologic irritability, large fontanels, prominent glabella, marked periorbital and eyelid edema, low nasal bridge with transverse crease, short nose, lateral soft tissue nasal buildup, and small toenails. Features consistent with the fetal alcohol syndrome appeared distinct and coexistent with the other described facial findings. Other severe abnormalities included cleft lip/palate, atypical facial cleft, abnormal BSER, intraventricular hemorrhages, arthrogryposes, and genitourinary abnormalities. Forty percent of the infants were born prematurely; 28% were small for gestational age; 43% showed head circumference values less than the 10th percentile. We conclude that these findings may be distinctive for a diagnosis of fetal cocaine syndrome; such findings should be further established by a future blinded prospective study of mothers and neonates.

Growth retardation in prenatally diagnosed cases of gastroschisis.

Gastroschisis is a rare congenital anomaly characterized by the herniation of fetal intestines directly through an abdominal wall defect. It is associated infrequently with chromosomal or other nonbowel defects and can be treated surgically after delivery, with survival rates reported to be between 87 and 100%. We reviewed 21 cases of prenatally diagnosed gastroschisis to ascertain the effect of fetal growth retardation on perinatal outcome. Ten of the 21 fetuses (48%) were identified prenatally as growth retarded, although only seven of these ten truly had birth weights less than the 10th percentile. Three additional fetuses that had not been identified prenatally as growth retarded did, in fact, have birth weights less than the 10th percentile, for a total frequency of growth retardation at birth of 48% (10/21 fetuses). When compared to non-growth-retarded fetuses with gastroschisis, fetuses who were growth retarded, although more likely to have been delivered by emergency cesarean section, had shorter hospitalization times, were more likely to have undergone primary closure on the first day of life, and had fewer major complications. We conclude that growth retardation is common in fetuses with gastroschisis and the postnatal outcome in gastroschisis is not poorer for fetuses who are growth retarded.

Mental retardation locus in Xp21 chromosome microdeletion.

Xp21 microdeletion syndrome is associated with variable size Xp21 deletions that usually include the glycerol kinase locus. The clinical phenotypes we studied in this chromosome region include: Xpter - Aland Island eye disease (AIED) -adrenal hypoplasia (AH) -glycerol kinase (GKD) -Duchenne muscular dystrophy (DMD) -retinitis pigmentosa (RP) -ornithine transcarbamylase (OTC) -centromere. In a compilation of 18 individuals in 14 families with the AH, GKD, and DMD loci deleted, 17 were male and all were developmentally delayed. In contrast, we report mentally retarded female carriers in two Xp21 deletion syndrome families with DMD, GKD, and AH in affected males. In the first family with normal karyotypes, a submicroscopic deletion was associated with DMD in the retarded male and with retardation in carrier females. In the second family an X chromosome with a cytogenetically deleted Xp21 distal to the OTC and RP genes segregated in the affected male and retarded female carriers. DNA analysis at the DMD locus verified the cytogenetic findings. This report of mental retardation in otherwise asymptomatic female carriers of Xp21 deletion classifies one form of mental retardation in females.

The role of velamentous cord insertion in the etiology of twin-twin transfusion syndrome.

OBJECTIVE: To evaluate the prevalence of velamentous cord insertion in twin-twin transfusion using the hypothesis that such insertions may contribute to the etiology of the condition. METHODS: All cases of placentas referred for pathologic evaluation at the University of California at San Francisco from 1984-1992 were reviewed for the citation of diamniotic-monochorionic placentation, including the presence of velamentous cord insertions. Maternal and infant records were studied for findings consistent with twin-twin transfusion syndrome. RESULTS: Thirty-eight cases of monochorionic-diamniotic twins were identified, 11 of which showed twin-twin transfusion syndrome. The prevalence of velamentous cord insertion in the transfusion syndrome subset was 63.6%, compared with 18.5% in those without (significant difference at P < .01). Twin-twin transfusion syndrome pregnancies with velamentous insertions were delivered at a significantly earlier gestational age; they also had fewer surviving infants and were more likely to have been treated prenatally than transfusion syndrome pregnancies without velamentous insertion, although these latter two findings were not significantly different. CONCLUSIONS: Velamentous cord insertions are more common in twin-twin transfusion syndrome pregnancies and may contribute to the development of profound disparity in fluid volume because the membranously inserted cord can be easily compressed, reducing blood flow to one twin. Large-volume amniocentesis may reduce this compressive force on the cord insertion, thus explaining the success of this mode of intervention.

Prenatal diagnosis of Duchenne muscular dystrophy by fetal muscle biopsy.

Prenatal diagnosis and carrier detection for Duchenne muscular dystrophy (DMD) usually can be performed using DNA analysis. When recombination occurs within the DMD gene, or DNA analysis is uninformative, or in pedigrees where it is unclear whether or not the consultand is a carrier, direct examination of muscle by dystrophin analysis may provide the only means of prenatal diagnosis. We present three cases representing each of these molecular genetic diagnostic dilemmas. In each instance, we used sonographically guided fetal muscle biopsy for dystrophin protein analysis to resolve the dilemma. In the first and third cases, the presence of normal dystrophin was shown by immunofluorescence and this was followed by delivery of an unaffected male fetus. In the second case, dystrophin was not found in fetal muscle tissue implying that this fetus was affected. The absence of dystrophin and affected status was confirmed in skeletal and cardiac muscle obtained after pregnancy termination.

Treatment of acardiac-acephalus twin gestations by hysterotomy and selective delivery.

The acardius syndrome is a rare complication of monozygotic twin pregnancies, occurring once in 35,000 births. The outcome is invariably fatal for the acardiac twin and for 50-75% of the normal twins. We present a surgical approach to the treatment of this problem involving hysterotomy and selective delivery of the acardiac twin, which we have used in five cases. In the first case, placental abruption shortly after the procedure led to fetal death. The next two cases resulted in cesarean delivery of the remaining healthy singleton at 35 weeks' gestation. The fourth and fifth cases were delivered at 27 and 28 weeks' gestation, respectively, the first because of preterm rupture of membranes 2 weeks after the procedure and the second because of partial placental abruption 8 weeks after surgery; both of these infants are now doing well. There were no residual maternal complications. We conclude that hysterotomy has direct applicability in the management of these high-risk pregnancies.

Motor vehicle accident associated with minimal maternal trauma but subsequent fetal demise.

Traumatic fetal injury in the absence of significant maternal injury is rare. A 21-year-old woman at 27 weeks estimated gestational age sustained a front-end motor vehicle collision at 35 mph while wearing a seatbelt and shoulder harness with minimal maternal injury. Marked variable fetal heart rate decelerations were noted on the patient's presentation. Although the initial ultrasound examination was normal, sequential examinations showed an enlarging fetal intracranial mass. Fetal demise occurred five days after the accident with necropsy confirming cerebral hemorrhage, hepatic hemorrhage, and hemoperitoneum. In this case, an abnormality of fetal heart rate first suggested a severe fetal injury, with ultrasonography confirming the injury four days later.