Biomedical subjects
Publications and source records attributed to J Yankowitz.
Ultrasound examination due to an elevated maternal serum alpha-fetoprotein level showed lower extremity asymmetry. The findings were felt to be consistent with Klippel-Trénaunay-Weber syndrome. The pregnancy was terminated based on these findings. The ultrasound findings, confirming post-mortem examination, and counselling issues are discussed.
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.
OBJECTIVE: Twenty-two cases of antenatally diagnosed congenital cystic adenomatoid malformations are reported. STUDY DESIGN: Case management is reviewed. RESULTS: Eighteen women continued pregnancy after diagnosis. In nine cases nonimmune hydrops fetalis did not develop and all infants survived. Nonimmune hydrops fetalis developed in the other nine; fetal intervention was performed in eight cases. In the single case of nonimmune hydrops fetalis without intervention, the neonate died. In four cases aspiration of macrocystic lesions was performed. In two cases cystoamniotic shunts were placed. Neither aspiration or shunting provided long-term benefit. In six cases fetal lobectomy was ultimately performed and four survived. Two fetuses did not undergo in utero surgery; one was delivered prematurely after cyst aspiration and lived, and the other previable fetus was delivered soon after shunting. CONCLUSIONS: Fetal survival is best related to development of nonimmune hydrops fetalis. Aspiration of cystic lesions and cystoamniotic shunts generally provide short-term benefit. Early experience with fetal surgery for congenital cystic adenomatoid malformations has been encouraging.
BACKGROUND: Recombinant human erythropoietin has been approved for treatment of the anemia of renal failure since 1989, yet data regarding the safety and efficacy of this drug in pregnancy are limited. We used recombinant human erythropoietin to treat the anemia of renal disease in three pregnant women. CASES: Nadir hematocrit values before initiation of erythropoietin were 19-23%. Erythropoietin, 50-160 U/kg/week subcutaneously, was begun at 14-26 weeks' gestation. Initially, the rise in hematocrit averaged 0.6-2% each week, with peak values of 26.7-32%. Iron supplementation was given simultaneously. Maternal and neonatal outcomes were favorable despite the development of preeclampsia or worsening renal function requiring early delivery. CONCLUSION: In this small series, erythropoietin begun during the second trimester in a dose of about 100 U/kg/week, in conjunction with orally administered iron, appeared to be effective in treating the anemia of renal failure during pregnancy. Additional experience is needed to evaluate the safety of this medication during pregnancy.
Goodpasture syndrome is characterized by pulmonary hemorrhage, glomerulonephritis, and an autoantibody to glomerular basement membrane antigens. Current management of this potentially lethal disease consists of glucocorticoids to control pulmonary hemorrhage, cytotoxic drugs to inhibit further renal damage, and plasma exchange to clear circulating anti-basement membrane antibodies. These treatment modalities pose difficult management issues during pregnancy. We describe a successful pregnancy outcome in a parturient with Goodpasture syndrome. Antepartum care included serial pulmonary and renal evaluations. In patients without disease progression, a favorable outcome may be possible.
Postnatal assessment of gestational age in preterm neonates traditionally has been performed using the methods of Dubowitz and Ballard. This study was designed to determine the accuracy of these methods in a sample of very low birth weight preterm neonates. Dubowitz and Ballard examinations were done on 110 preterm neonates within the first 72 hours of life by a neonatologist masked to the gestational age assessed antenatally. Mean birth weight was 1066 +/- 256 g (SD). These data were compared with gestational age assessments using last menstrual period and best obstetric estimate calculated by an obstetrician unaware of the neonatal examination. Mean gestational age using last menstrual period was 28.3 +/- 2.9 weeks. Mean differences between last menstrual period and Dubowitz/Ballard were -2.8 +/- 2.1 weeks and -2.6 +/- 2.2 weeks, respectively. Results using best obstetric estimate were similar. An ophthalmologist examined lens vessels of 89 neonates. A similar pattern toward overestimation of gestational age interval by Dubowitz/Ballard was seen at each lens vessel grade. The Dubowitz and Ballard examinations are inaccurate methods of assessing gestational age in preterm neonates with birth weights less than 1500 g.
Methotrexate with folinic acid rescue was used to terminate a clinically diagnosed cervical pregnancy while preserving reproductive capability in a young female patient. The chemotherapy was well tolerated except for transient elevation of liver enzymes. Beta HCG titers fell rapidly and became negative by 13 days. This is the first report showing successful treatment of a cervical pregnancy with single-dose chemotherapy. The literature is reviewed and discussed.
Mice have skewed X chromosome inactivation (XCI) in extraembryonic tissue while examination of human placentae have yielded conflicting results. We investigated XCI patterns in human embryonic and extra-embryonic tissues. First and early second trimester placental and foetal tissues were collected. Cytotrophoblasts were isolated from the placentae. Female samples were identified and X-inactivation patterns were determined by analysis of androgen receptor (HAR) methylation patterns. Among 55 females heterozygous at the HAR, 37 had random and 18 skewed XCI. In foetal tissues a skewed XCI pattern was only observed in one liver and one intestine sample. A greater incidence of skewed XCI pattern was present in extra-embryonic compared to embryonic tissues (P=0.022). A markedly skewed XCI pattern was only found in one cytotrophoblast sample. Random and skewed XCI patterns were detected in human embryonic and extra-embryonic tissues. The extra-embryonic tissue had a higher proportion of skewed XCI, but marked skewed XCI was uncommon in both tissues. Skewed XCI may not play a role in normal human placentation.