Joan M. Mastrobattista

Pregnancy after solid organ transplantation.

For women with end-stage organ failure, transplantation is an established therapeutic option. Pregnancy after solid organ transplantation is no longer uncommon, especially with the recent advances in transplantation surgery and the availability of newer immunosuppressants. This article will review preconceptional counseling, common pregnancy complications, prenatal and intrapartum considerations, outcome by organ, immunosuppressant therapies, and neonatal outcomes based on data available from case series and voluntary registries. Some recommendations are provided to assist in the management of pregnancies after solid organ transplantation.

Angiotensin converting enzyme inhibitors in pregnancy

Angiotensin converting enzyme (ACE) inhibitors are excellent antihypertensive agents and are becoming widely used as first-line therapy for chronic hypertension in women of reproductive age owing to their efficacy and few side effects. Reports of adverse fetal and neonatal effects from the use of ACE inhibitors in pregnancy in both animal and human studies prompted recommendations against their use in human pregnancy by several authors. This review discusses the mechanism of action of ACE inhibitors and the use of ACE inhibitors in pregnancy both in experimental animals and use in human pregnancy. ACE inhibitors used during pregnancy may have untoward effects on the fetus. Based on reports in the literature, one should avoid starting ACE inhibitors during pregnancy and discontinue them in current users if at all possible.

Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus

Brachydactyly (BD) is a term used to describe inherited anomalies of the hands generally characterised by shortened phalanges or metacarpals. Initially, the brachydactylies were grouped into five different classes (A-E), with three subtypes of A.1 Later work revised and extended the classification of BD.2,3 In type A, shortening is primarily confined to the middle phalanges. Subtype A1 (BDA1, OMIM 112500) is distinguished by hypoplastic middle phalanges (especially the 2nd and 5th digits), with either distal or terminal symphalangism depending on the severity. In addition, shortening of the proximal phalanges of the thumb, the metacarpals, metatarsals, or the big toe are also observed in these patients. Short stature is often associated with BDA1 patients. Despite being the first syndrome described with Mendelian autosomal dominant inheritance in 1903,4, the genetic aetiology of BDA was not reported until 2001.5 Suspecting that cell proliferation or differentiation factors could be the culprit causing BDA1, our group screened markers near several candidate genes in two families diagnosed with BDA1. No linkage was observed.6 We also chose to look for mutations of the PAX3 genes in these families by direct sequencing of all the exons, but no significant mutation was identified (unpublished data). In 2000, a locus for BDA1 was mapped to 2q35-q36 in two unrelated Chinese families.7 Refined mapping and mutation screening of candidate genes in the region by the same group identified missense mutations in the Indian Hedgehog gene ( IHH) of the affected subjects in three unrelated families.5 The missense mutations, located at the amino terminus of the IHH protein, are conserved among the Hedgehog family proteins. Local and long range cell proliferation signalling functions were suggested to reside within the amino-terminus domain. Interestingly, ROR2 and CDMP1 have been identified to cause brachydactyly types B and …

Wet smear compared with gram stain diagnosis of bacterial vaginosis in asymptomatic pregnant women

Abstract Objective: To compare wet smear and Gram stain diagnoses of bacterial vaginosis among asymptomatic pregnant women. Methods: Between November 1, 1996 and December 31, 1997, asymptomatic women who initiated prenatal care in our obstetric clinics were invited to participate. Exclusion criteria included antimicrobial use within 2 weeks, cervical cerclage, vaginal bleeding, placenta previa, spermicide use, douching, or intercourse within 8 hours. Clinical diagnosis that required two of three positive criteria for bacterial vaginosis (vaginal pH, whiff test, and clue cells on wet smear) was compared with Gram stain diagnosis (Bacterial vaginosis score 7–10 by Nugent criteria). Results: Population characteristics (n = 69) included an average (± standard deviation [SD]) maternal age of 27.3 ± 6.6 years, 26 nulliparas (38%), 28 black women (41%), 23 white women (38%), 15 Hispanic women (22%), and three Asian women (4%). The mean (±SD) gestational age at entry was 15.6 ± 7.6 weeks. Twenty-seven percent (18 of 67) of the study population was diagnosed with bacterial vaginosis by definitive Gram stain. Two slides were lost or were of poor quality and not included. Using Gram stain diagnosis of bacterial vaginosis as the standard, clinical diagnosis had sensitivity of 56% (95% confidence interval [CI] 32%, 78%), a specificity of 96% (95% CI 90%, 100%), a positive predictive value of 83%, and a negative predictive value of 85%. Conclusion: In asymptomatic pregnant women, bacterial vaginosis can be diagnosed reliably by Gram stain.

Ring block for neonatal circumcision.

Objective To determine whether a difference in the behavioral and physiologic response to circumcision can be demonstrated between neonates undergoing the procedure with ring block and those receiving no anesthesia. Methods Forty healthy male newborns were assigned randomly to receive either ring block or no anesthesia. Indices of perceived pain including crying time, behavioral state, oxygen saturation, and heart and respiratory rates were recorded at baseline and at intervals during the circumcision. Infants were reassessed 2 minutes and 2 hours postoperatively. Results Infants receiving ring block cried less than did controls (P < .001). Anesthetized infants had smaller increases in heart rate (P < .005) and demonstrated less arousal (P < .005) during each operative interval. For all operative intervals combined, anesthetized infants had a smaller decrease in oxygen saturation (P < .001) and a smaller increase in respiratory rate (P = .005) than did controls. Two minutes postoperatively, anesthetized infants had returned to their baseline behavioral state, whereas controls remained significantly more aroused (P < .005). Two hours postoperatively, there were no significant differences in any variables between the groups, nor between each group and its baseline. There were no complications related to anesthesia administration. Conclusion Neonatal circumcision causes behavioral and physiologic changes consistent with the perception of pain. Ring block is an effective method of anesthesia for this procedure.

AIUM practice guideline for the performance of an ultrasound examination of the abdomen and/or retroperitoneum

These guidelines are an educational tool designed to assist practitioners in providing appropriate radiologic care for patients. They are not inflexible rules or requirements of practice and are not intended, nor should they be used, to establish a legal standard of care. For these reasons and those set forth below, the American College of Radiology cautions against the use of these guidelines in litigation in which the clinical decisions of a practitioner are called into question.

Milk-alkali syndrome in pregnancy.

BACKGROUND: Severe hypercalcemia, a potentially life-threatening medical emergency, is rare in pregnancy. CASE: We report a 32-year-old woman presenting early in the second trimester with severe hypercalcemia (total calcium 22mg/dL), alkalosis, and acute renal insufficiency resulting from excessive ingestion of calcium carbonate–containing antacid for gastroesophageal reflux. The patient was treated with aggressive hydration and furosemide, and received 1 dose of intravenous etidronate, leading to short-term symptomatic hypocalcemia. To our knowledge, this is the third reported case of milk-alkali syndrome in pregnancy. CONCLUSION: Milk-alkali syndrome is an uncommon cause of hypercalcemia in pregnancy. Intravenous hydration with saline should be the cornerstone of treatment, reserving bisphosphonates for selected cases.

Evaluation of candidate genes for familial brachydactyly.

Type A1 brachydactyly in humans is a recognisable syndrome characterised by shortening of the middle phalanx of all digits with occasional fusion of the middle and terminal phalanges. The purpose of this study was to evaluate candidate genes for type A1 brachydactyly in two families with multiple affected members. Several classes of genes have been implicated in the control of distal limb development including homeobox containing genes (MSX1, MSX2) some members of the homeobox gene family, and genes encoding growth factors of the FGF, TGF, and PDGF families. Homeobox (Hox) genes are a family of developmental control genes activated early in embryogenesis that encode positional information along the anterior-posterior body axis and specify distinct spatial domains within developing limbs. Growth factor genes can regulate the proliferation and differentiation of various embryonic structures including limb buds and have been shown to influence Hox gene expression. Candidate genes HOXD, MSX1, MSX2, FGF-1, and FGF-2 were excluded in one family. The brachydactyly type A1 gene or locus was not found in either of the two families studied.

Perinatal pseudocoarctation: echocardiographic findings in vein of Galen malformation.

Vein of Galen aneurysmal malformations (VGAMs) are rare congenital malformations thought to develop during weeks 6 to 11 of fetal life. Although they represent less than 1% of all cerebral vascular malformations, they constitute up to 30% of all pediatric vascular malformations. Vein of Galen aneurysmal malformations cause high‐output heart failure in the fetus and neonate secondary to the decreased resistance and high blood flow in the lesion. We describe 2 cases, 1 prenatal and 1 postnatal, in which unusual aortic Doppler flow patterns and substantial brachiocephalic vessel dilation contributed to the discovery of a VGAM.

Maternal Serum Screening: Results Disclosure, Anxiety, and Risk Perception

Although increased maternal anxiety following the disclosure of positive second-trimester maternal serum screen (MSS) results has been well documented, how this anxiety correlates with the method of results disclosure has not been well defined. This pilot study aimed to determine how abnormal second-trimester MSS results are disclosed, the level of anxiety experienced by women as a result of this disclosure, and the accuracy of their risk perception. Women referred for prenatal genetic counseling were asked to complete a questionnaire including demographics, standardized Spielberger State-Trait Anxiety Inventory, results disclosure information, and perceived risk. Of the 561 questionnaires distributed, 388 (69.2%) women chose to participate. Of the 136 participants referred for an abnormal MSS, 125 (91.9%) were aware of this indication and elected to complete the results disclosure portion of the questionnaire. The average anxiety level was not significantly different based on the method of results disclosure or who reported the results. We did not identify a definite cause for the anxiety experienced by women receiving abnormal MSS results; however, this study illustrates the need for further research to identify factors that contribute to the elevated anxiety experienced by these women.