Mary E. Fallat

Ethical and policy issues in genetic testing and screening of children

The genetic testing and genetic screening of children are commonplace. Decisions about whether to offer genetic testing and screening should be driven by the best interest of the child. The growing literature on the psychosocial and clinical effects of such testing and screening can help inform best practices. This policy statement represents recommendations developed collaboratively by the American Academy of Pediatrics and the American College of Medical Genetics and Genomics with respect to many of the scenarios in which genetic testing and screening can occur.

Relationship between serum müllerian-inhibiting substance and other reproductive hormones in untreated women with polycystic ovary syndrome and normal women

OBJECTIVE To examine the relationship of serum müllerian-inhibiting substance (MIS), E(2), free-T, LH, and FSH in untreated women with polycystic ovary syndrome (PCOS) and in women with normal menstrual cycles. DESIGN A prospective study. SETTING University Departments of Obstetrics and Gynecology and Surgery. PATIENT(S) Twenty-seven women with PCOS and 20 women with normal menstrual cycles. INTERVENTION(S) Serum was collected from women with PCOS and from normal women during the early follicular phase of the menstrual cycle, stored frozen until assayed. MAIN OUTCOME MEASURE(S) Serum levels of MIS, E(2), free-T, TSH, LH, and FSH were measured. RESULT(S) Serum müllerian-inhibiting substance levels in PCOS patients were significantly higher compared with normal women (+/- SE; 5.3 +/- 0.7 and 1.4 +/- 0.2 ng/mL, respectively). An inverse correlation (r = -0.5965) was found between serum levels of MIS and E(2) in PCOS women, but not in normal women. Women with PCOS had higher serum LH levels than those of normal women (15.2 +/- 1.2 and 5.0 +/- 0.7 mIU/mL). CONCLUSION In this study, women with PCOS have significantly higher serum MIS levels than normal women. The inverse relationship between müllerian-inhibiting substance and E(2) levels suggests that MIS may modulate ovarian E(2) synthesis and have a role in the disordered folliculogenesis characteristic of PCOS.

Serum mullerian-inhibiting substance levels during normal menstrual cycles

OBJECTIVE To measure serum levels of müllerian-inhibiting substance (MIS) during the normal menstrual cycle. DESIGN Serum was collected from women during ovulation and the mid-luteal and early follicular phases of the menstrual cycles. It was stored frozen at -80 degrees C until assayed. SETTING University of Louisville Departments of Obstetrics and Gynecology and Surgery. PATIENT(S) Twenty healthy women 22-35 years of age with normal menstrual cycles. INTERVENTION(S) Blood samples were collected on menstrual cycle day two or three and on the day of LH surge plus one and plus seven or eight. MAIN OUTCOME MEASURE(S) Serum MIS levels were measured by using an enzyme-linked immunosorbent assay. RESULT(S) Serum MIS levels ranged from a low of 1.4 +/- 0.9 ng/mL (mean [+/-SD]) in the early follicular phase, peaked mid-cycle at 1.7 +/- 1.1 ng/mL, and decreased to 1.4 +/- 0.9 ng/mL in the mid-luteal phase of the normal menstrual cycle. CONCLUSION(S) Fluctuations in serum MIS levels during the menstrual cycle suggest that MIS may have a regulatory role in folliculogenesis.

Guidelines for prehospital management of traumatic brain injury 2nd edition

The information contained in these Guidelines, which reflects the current state of knowledge at the time of completion of the literature search (July 2006), is intended to provide accurate and authoritative information about the subject matter covered. Because there will be future developments in scientific information and technology, it is anticipated that there will be periodic review and updating of these Guidelines. These Guidelines are distributed with the understanding that the Brain Trauma Foundation, the National Highway Traffic Safety Administration, and the other organizations that have collaborated in the development of these Guidelines are not engaged in rendering professional medical services. If medical advice or assistance is required, the services of a competent physician should be sought. The recommendations contained in these Guidelines may not be appropriate for use in all circumstances. The decision to adopt a particular recommendation contained in these Guidelines must be based on the judgment of medical personnel, who take into consideration the facts and circumstances in each case, and on the available resources.

Preservation of Fertility in Pediatric and Adolescent Patients With Cancer

Many cancers that present in children and adolescents are curable with surgery, chemotherapy, and/or radiation therapy. Potential adverse consequences of treatment include sterility, infertility, or subfertility as a result of either gonad removal or damage to germ cells from adjuvant therapy. In recent years, treatment of solid tumors and hematologic malignancies has been modified in an attempt to reduce damage to the gonads. Simultaneously, advances in assisted reproductive techniques have led to new possibilities for the prevention and treatment of infertility. This technical report reviews the topic of fertility preservation in pediatric and adolescent patients with cancer, including ethical considerations.

Müllerian-inhibiting substance in follicular fluid and serum: a comparison of patients with tubal factor infertility, polycystic ovary syndrome, and endometriosis

OBJECTIVE To determine Müllerian inhibiting substance (MIS) levels in follicular fluid (FF) and sera of IVF patients. DESIGN Prospective study. SETTING Fertility center. PATIENT(S) Sixty-six patients: 20 with tubal factor infertility, 17 with polycystic ovary syndrome (PCOS), and 29 with endometriosis. INTERVENTION(S) All patients underwent ovarian stimulation with hMG and/or FSH, as well as oocyte retrieval for IVF. MAIN OUTCOME MEASURE(S) Follicular fluid and serum MIS levels and oocyte fertilization rates. RESULT(S) Levels of MIS in FF and sera of PCOS patients were significantly higher than those in tubal factor patients: 7.01 +/- 1.52 versus 1.65 +/- 0.23 ng/mL (mean +/- SE) and 2.97 +/- 0.52 versus 0.92 +/- 0.19 ng/mL, respectively. In endometriosis patients, follicular fluid and serum MIS levels were not significantly different from those in tubal factor patients. In PCOS patients, the percentage of immature oocytes retrieved (17.9% +/- 5.0%) was significantly higher compared with tubal factor (1.5% +/- 1.0%) and endometriosis (9.2% +/- 2.3%) patients. The percentage of oocytes fertilize was significantly lower in PCOS patients (30.2% +/- 5.3%) compared with tubal factor (62.2% +/- 5.5%) and endometriosis (37.5% +/- 5.7%) patients. CONCLUSION(S) Women with PCOS had higher serum and follicular fluid MIS levels, a higher percentage of immature oocytes, and lower fertilization rates than women with endometriosis or pelvic adhesions.

Noninflammatory ovarian masses in girls and young women.

Objective We reviewed the presentation, treatment, and pathologic diagnoses of girls and young women less than 21 years old with noninflammatory ovarian masses that required surgery and established whether treatment had changed over time. Methods We retrospectively reviewed charts of all girls and young women under 21 years old with International Classification of Diseases, 9th Revision (ICD-9) codes specific for noninflammatory ovarian masses treated at our institution from June 1980 to July 1998 (n = 140). Results The median age at surgery was 15 years (range 2 days–21 years). Ovarian cysts occurred in 57.9% (81 of 140) of patients, benign tumors (including mature cystic teratomas) in 30% (42 of 140), malignant tumors in 7.9% (11 of 104), and torsed but normal ovaries in 4.3% (six of 140) of the study sample. Patients older than 15 years were more likely to have ovarian cysts and benign tumors than younger patients (P = .019). There were no malignancies among girls with neonatal cysts. The incidence of ovarian torsion was 17.8% (25 of 140). Patients with ovarian cysts, mature cystic teratomas, and normal ovaries were more likely to have torsion than those with other benign or malignant tumors (P < .001). Operative approach and surgical procedure were compared before and after July 1, 1989. Laparoscopy was performed more commonly after July 1, 1989 (P = .009). However, patient age (P < .001) rather than time of surgery (P = .83) was the most important predictive factor in a multivariate analysis for use of laparoscopy. In addition, multivariate analysis revealed that patient age (P = .02) rather than time of surgery (P = .79) was also predictive of surgeon type (gynecologist or pediatric surgeon). Conclusion The most frequent cause of an ovarian mass requiring surgery in a girl or young woman under 21 years of age is an ovarian cyst, which justifies consideration of a laparoscopic approach. Patient age rather than time of surgery predicted operative approach and surgeon type. Caution should be exercised in patients over age 12 months with a complex mass on ultrasound and clinical evidence of hormonal activity, as these masses are usually malignant.

An Evidence-based Prehospital Guideline for External Hemorrhage Control: American College of Surgeons Committee on Trauma

Abstract This report describes the development of an evidence-based guideline for external hemorrhage control in the prehospital setting. This project included a systematic review of the literature regarding the use of tourniquets and hemostatic agents for management of life-threatening extremity and junctional hemorrhage. Using the GRADE methodology to define the key clinical questions, an expert panel then reviewed the results of the literature review, established the quality of the evidence and made recommendations for EMS care. A clinical care guideline is proposed for adoption by EMS systems. Key words: tourniquet; hemostatic agents; external hemorrhage

The role of computed tomography in blunt abdominal trauma in children.

This study was performed in order to test the hypothesis that abdominal computed tomography (CT) can assist in the decision to perform laparotomy in children following blunt trauma to the abdomen. Three hundred forty children with blunt abdominal trauma underwent evaluation with CT. Abdominal injuries were detected in 84 children (25%). These included: 75 injuries to solid viscera in 60 patients (30 splenic, 29 hepatic, 13 renal, and three pancreatic); four injuries to hollow viscera (three small bowel transections, and one rupture of the urinary bladder); and 23 skeletal injuries (21 fractures of the pelvis, and two lumbar spine subluxations). Injury to solid viscera was categorized as minor in 32 (43%), moderate in 18 (24%), or severe in 25 (33%) according to an assessment of the percentage of parenchyma involved. Hemoperitoneum was detected in 42 patients, and characterized as small in 18 (43%), moderate in nine (21%), and large in 15 (36%). CT was useful in establishing the location and extent of injuries, and in detecting the presence of blood or air in the peritoneal cavity. However, the extent of injury to solid viscera detected on CT did not correlate with the need for laparotomy. Of 46 moderate to severe anatomic injuries of the liver, spleen or kidney, only five (9%) required surgical intervention because of persistent bleeding or infection. Although laparotomy occurred more frequently in the presence of a large hemoperitoneum, only 6/24 (25%) with moderate to large hemoperitoneum required surgical exploration. This analysis confirms the usefulness of CT for detection of location and extent of injury in pediatric blunt abdominal trauma.(ABSTRACT TRUNCATED AT 250 WORDS)

Clinical clearance of the cervical spine in blunt trauma patients younger than 3 years: A multi-center study of the american association for the surgery of trauma

BACKGROUND Cervical spine clearance in the very young child is challenging. Radiographic imaging to diagnose cervical spine injuries (CSI) even in the absence of clinical findings is common, raising concerns about radiation exposure and imaging-related complications. We examined whether simple clinical criteria can be used to safely rule out CSI in patients younger than 3 years. METHODS The trauma registries from 22 level I or II trauma centers were reviewed for the 10-year period (January 1995 to January 2005). Blunt trauma patients younger than 3 years were identified. The measured outcome was CSI. Independent predictors of CSI were identified by univariate and multivariate analysis. A weighted score was calculated by assigning 1, 2, or 3 points to each independent predictor according to its magnitude of effect. The score was established on two thirds of the population and validated using the remaining one third. RESULTS Of 12,537 patients younger than 3 years, CSI was identified in 83 patients (0.66%), eight had spinal cord injury. Four independent predictors of CSI were identified: Glasgow Coma Score <14, GCSEYE = 1, motor vehicle crash, and age 2 years or older. A score of <2 had a negative predictive value of 99.93% in ruling out CSI. A total of 8,707 patients (69.5% of all patients) had a score of <2 and were eligible for cervical spine clearance without imaging. There were no missed CSI in this study. CONCLUSIONS CSI in patients younger than 3 years is uncommon. Four simple clinical predictors can be used in conjunction to the physical examination to substantially reduce the use of radiographic imaging in this patient population.