Charles J. Macri

Knowledge, Perceptions, and Attitudes of Advanced Practice Nursing Students Regarding Medical Genetics

Purpose To describe the current medical genetic knowledge and perceptions of graduate advanced practice nursing (advanced practice nurse [APN]/nurse practitioner and nurse anesthetist) students using survey data for future integration of genetic topics, principles, and healthcare issues into curriculum. Data sources Survey data of APNs’ perceived knowledge of genetics and a review of the literature from past research studies of students and current articles from professional journals and organizations. Web sites were those of the National Coalition of Health Professions for Education in Genetics and National Institutes of Health, Human Genome Research Institute; professional organizations; and the authors’ professional, clinical, and educational experiences. Conclusions Most APN students perceived they had minimum knowledge and prior training regarding medical genetics. There is a need to integrate genetic concepts, principles, and medical conditions into advanced practice nursing curriculum and to provide clinical experiences in genetic conditions across the life span and throughout the health and illness spectrum. APN students have positive attitudes toward integrating genetics into graduate curricula. Potential methods for program integration include readings, small group discussion, standardized patients, and role‐play as measures to increase information. Implications for practice The National Coalition for Health Profession Education in Genetics, the American Nursing Association, and the American College of Nursing Education have recommended integration of genetics knowledge and skills into routine health care to provide effective interventions for individuals and families. However, previous research and data from this study have revealed that many nurses have minimal training in genetics. Advanced practice nurses must be knowledgeable on genetic principles, topics, and the ethical, legal, and social implications related to medical genetics to increase the ability to diagnose, prevent, and treat diseases and to provide effective care for individuals and families.

In utero copper treatment for Menkes disease associated with a severe ATP7A mutation

Menkes disease is a lethal X-linked recessive neurodegenerative disorder of copper transport caused by mutations in ATP7A, which encodes a copper-transporting ATPase. Early postnatal treatment with copper injections often improves clinical outcomes in affected infants. While Menkes disease newborns appear normal neurologically, analyses of fetal tissues including placenta indicate abnormal copper distribution and suggest a prenatal onset of the metal transport defect. In an affected fetus whose parents found termination unacceptable and who understood the associated risks, we began in utero copper histidine treatment at 31.5 weeks gestational age. Copper histidine (900 μg per dose) was administered directly to the fetus by intramuscular injection (fetal quadriceps or gluteus) under ultrasound guidance. Percutaneous umbilical blood sampling enabled serial measurement of fetal copper and ceruloplasmin levels that were used to guide therapy over a four-week period. Fetal copper levels rose from 17 μg/dL prior to treatment to 45 μg/dL, and ceruloplasmin levels from 39 mg/L to 122 mg/L. After pulmonary maturity was confirmed biochemically, the baby was delivered at 35.5 weeks and daily copper histidine therapy (250 μg sc b.i.d.) was begun. Despite this very early intervention with copper, the infant showed hypotonia, developmental delay, and electroencephalographic abnormalities and died of respiratory failure at 5.5 months of age. The patients ATP7A mutation (Q724H), which severely disrupted mRNA splicing, resulted in complete absence of ATP7A protein on Western blots. These investigations suggest that prenatally initiated copper replacement is inadequate to correct Menkes disease caused by severe loss-of-function mutations, and that postnatal ATP7A gene addition represents a rational approach in such circumstances.

Racial disparities in maternal hemoglobin concentrations and pregnancy outcomes.

Abstract Objective: To examine the association of maternal hemoglobin (Hb) concentrations with preterm and low birth weight (LBW) deliveries in African Americans compared to Caucasians. Methods: We conducted a retrospective analysis of perinatal data on 17,338 African-American and Caucasian pregnant women who delivered at the George Washington University Hospital (GWUH) between January 1990 and December 2003. We used univariate and logistic regression analyses to examine for associations. Results: Compared to Caucasians (n=9432), African American mothers (n=7906) had a higher incidence of anemia (26.9% vs. 7.1%, P<0.001), preterm (22.1% vs. 12.8%, P<0.001) and LBW (18.6% vs. 9.7%, P<0.001) outcomes. This association increased with decreasing Hb concentrations in each race. Risk for preterm and LBW outcomes were higher in African Americans compared to Caucasians at Hb concentration ≥12 g/dL (P<0.007); however, there were no race-specific risk at Hb concentration <11 g/dL (P>0.05). Conclusions: The association of race with preterm and LBW outcomes relates to maternal Hb. Our findings suggest: a) anemia is a strong risk factor that masks the influence of race, b) African American race could be a surrogate for other factors that contribute to adverse outcomes, and c) Caucasian race could be less adaptive to anemia.

Maternal asthma, race and low birth weight deliveries.

BACKGROUND Asthma during pregnancy may compromise the well-being of the fetus and potentially impact an infants birth weight via different mechanisms. AIMS 1) To assess the influence of asthma during pregnancy on the incidence of LBW outcomes in white non-Hispanic (WNH) and black non-Hispanic (BNH) women. 2) To identify other risk factors that affect low birth weight (LBW) (birth weight<2500g) outcomes among asthmatic women. DESIGN/SUBJECTS We conducted a retrospective analysis of compiled perinatal data on 17,073 patients including 9348 WNH and 7725 BNH women delivering at the George Washington University Hospital between 1990 and 2003. Univariate and logistic regression analyses were used to examine associations. RESULTS A total of 423 (2.5%) women had an asthma diagnosis, with a higher incidence in BNH women when compared to WNH women (3.4% vs. 1.7%, P<0.001). In the WNH population, asthmatic women had higher incidences of gravidity, thyroid disease, and illicit drug use, whereas in the BNH population, asthmatic women had higher incidences of increased body mass index (BMI), and use of alcohol, tobacco and illicit drugs. After controlling for confounders in multiple logistic regression analyses, there was an association between asthma and LBW outcomes in BNH women (OR: 1.7, CI: 1.1-2.6, p=0.01), but not in WNH women (OR=0.99, CI=0.5-2.2, p=0.97). CONCLUSIONS Asthma during pregnancy is a risk factor for LBW outcomes in BNH but not WNH women. The increased alcohol and illicit drug use in BNH women with asthma is an unexpected finding that deserves further study.

Maternal healthcare needs assessment survey at Rabia Balkhi Hospital in Kabul, Afghanistan

Since the Department of Health and Human Services chose Rabia Balkhi Hospital (RBH) in Kabul, Afghanistan, as a site for intervention in 2002, the status of womens health there has been of interest. This study created a tool to assess accessibility and quality of care of women admitted from May to July, 2005.

Use of a doula for labor coaching in a patient with indolent systemic mastocytosis in pregnancy.

BACKGROUND: Few cases of pregnancy in women with systemic mastocytosis have been reported. The effects of this disease on pregnancy have not been well documented, nor have the benefits of doula services for labor been reported for mastocytosis. CASE: A 35-year-old woman with indolent systemic mastocytosis sought preconception counseling regarding the effects of her disease on pregnancy and the effects of drugs and anesthesia on her disease. She then had an uncomplicated pregnancy and delivery, with multidisciplinary coordination and assistance by doulas to reduce the need for medication in labor. CONCLUSION: Mastocytosis patients can achieve normal pregnancy outcomes. Predelivery planning can help prepare staff and patients for complications. Doulas can assist with labor preparation and delivery using nonmedical approaches to relief of pain and anxiety.

Moyamoya Disease in Pregnancy: Management after Intracranial Bypass Grafting

Moyamoya disease (MD) is a chronic, progressive cerebrovascular disease distinguished by bilateral stenosis or occlusion of the arteries around the circle of Willis with resulting prominent arterial collateral circulation. We describe a pregnant woman in whom this diagnosis was confirmed by cerebral angiogram and treated with bilateral superficial temporal artery-middle cerebral artery (STA-MCA) bypass grafting prior to conception. The patient was managed with strict blood pressure monitoring and low-dose aspirin antepartum, intrapartum, and postpartum. The patient presented in spontaneous labor at term and underwent a spontaneous vaginal delivery without complications.

Maternal Obesity May Drive Perinatal Outcome Differences More than Racial Differences

Maternal Obesity May Drive Perinatal Outcome Differences More than Racial Differences retrospective cohort analysis of perinatal outcomes in non-Hispanic Black (NHB) vs. non-Hispanic White (NHW) women who were either obese with a pre-pregnancy body mass index (BMI) ≥30 or non-obese BMI < 30. Primary outcome was cesarean delivery rate. Secondary outcomes were induction of labor, preterm delivery (<37 weeks), gestational diabetes, gestational hypertension, preeclampsia and neonatal death rate. The groups were compared using the student t test or Χ2 test.

Provider and Patient Knowledge and Views of Office Practices on Weight Gain and Exercise during Pregnancy.

Objective This study sought to assess provider and patient knowledge and beliefs on gestational weight gain (GWG) and exercise during pregnancy, outline current clinical practices and the perceived value of educational tools. Study Design Providers and patients at the George Washington Medical Faculty Associates Obstetricians and Gynecologists clinic were recruited for a voluntary survey. Descriptive statistics of responses were compared and chi‐square analysis tested for significant associations. Results A total of 461 patient and 36 provider questionnaires were analyzed. Providers recommended GWG consistent with the Institute of Medicine guidelines for a “normal” body mass index (82.9%); however, a majority (52.8%) recommended GWG below guidelines for obese women. All providers reported counseling patients on GWG, but only 53.4% of patients reported discussing personal recommendations. About half of providers reported distributing educational materials for GWG (60.0%); however, only 30.6% of patients reported receiving them. African American patients self‐reported receiving the highest rates of counseling and educational materials, though a lower rate of recommendations to exercise. Patients perceived educational tools to be more useful than did providers. Conclusion Our findings suggest a gap between provider‐patient perceptions regarding counseling and provision of informational materials. Future research should study whether implementing various educational tools might increase the efficacy of current practices.

Leprosy in pregnant woman, United States.

To the Editor: Hansen disease, or leprosy, in pregnancy is a rarely reported event in the United States. In 2009, a total of 213,036 new cases of leprosy were detected throughout the world (1). Nine countries in Africa, Asia, and Latin America consider it a public health problem, accounting for ≈75% of the global disease prevalence (1). We describe a case of leprosy in a 27-year-old woman with 1 previous pregnancy and 1 live-born infant who had onset of subcutaneous nodules before she became pregnant. She appeared at her initial prenatal visit at 24.1 weeks of gestation after recently emigrating from Mexico. The patient reported that subcutaneous nodules had developed on her arms, legs, back, and abdomen ≈5 months before the visit, 2 weeks before her last menstrual period. A skin biopsy revealed acute and chronic panniculitis with acid-fast bacilli, and the condition was confirmed by PCR to be lepratamatous leprosy. Treatment included rifampin, Dapsone, clofazimine, and prednisone. The patient’s condition was monitored closely with ultrasounds at serial intervals; these showed consistent fetal growth at the 50th percentile. At 37 weeks and 1 day, her membranes ruptured. She underwent a repeat cesarean delivery because the method of leprosy transmission is not yet proven and to prevent possible vertical transmission to the infant. The patient delivered a female infant weighing 6 lb, 8 oz, with Apgar scores of 8 and 9. On postoperative day 1, Dapsone treatment was restarted; she was given Dapsone, 50 mg daily, and prednisone, 40 mg daily. She was discharged with the baby on postoperative day 3. Leprosy is a chronic disease caused by Mycobacterium leprae. The disease mainly affects the skin and nerves and, if untreated, can cause permanent damage. It is curable, however, and disability can be avoided. The World Health Organization recommends multidrug therapy consisting of Dapsone, rifampin, and clofazimine (1). This combination has proven highly effective, and patients are no longer infectious after the first dose (1). Virtually no relapses occur and antimicrobial drug resistance does not develop (1). Pregnancy causes a relative decrease in cellular immunity, which allows M. leprae to proliferate (2). Careful management can prevent permanent nerve damage. Leporatamatous leprosy and relapse after treatment are more commonly seen throughout pregnancy because of the pregnant woman’s immunodeficient state (2,3).,Infants are usually less affected than mothers; nevertheless, selection of the mothers antimicrobial drug regimen must ensure adequate control of the bacteria while avoiding teratogenicity and in utero adverse effects, such as low birthweight (3,4). The infant has a potentially high risk of contracting leprosy from the mother by skin-to-skin contact or droplet transmission, particularly if she has not received treatment.