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Biomedical subjects

E A Reece

Publications and source records attributed to E A Reece.

205 records · Page 12Linked to original sources

Evaluation of the Gen-Probe PACE II assay for the direct detection of Neisseria gonorrhoeae in endocervical specimens.

Evaluation of a non-isotopic DNA-rRNA hybridization assay [Probe Assay-Chemiluminescence Enhanced System (PACE II, Gen-Probe, San Diego, CA)] for the direct detection of Neisseria gonorrhoeae from clinical specimens was compared with culture. Culture and probe tests were performed on 795 endocervical specimens. Results demonstrated that total positives by culture were 18 (2.3% of total); both culture and the DNA-rRNA assay agreed in all cases but four. The PACE II yielded four hybridization-positive results with negative companion cultures. The sensitivity, specificity, and positive and negative predictive values for PACE II were 100%, 99.5%, and 82%, and 100%, respectively. The four discrepant results were resolved using a competitive nucleic acid hybridization assay with recalculated sensitivity, specificity, and positive and negative predictive values of 100, 99.7, and 91.6 and 100%, respectively. Overall, the DNA-rRNA assay offered a number of advantages over culture. The assay was more rapid, able to be performed directly on clinical specimens, and provided superior transport stability.

Adolescent↗

The role of free radicals and membrane lipids in diabetes-induced congenital malformations.

OBJECTIVE: The incidence of major congenital malformations is approximately 6-9% in pregnancies complicated by diabetes mellitus. This incidence is 3-4-fold higher than that in the general population. Congenital malformations are now ranked as the leading cause of death in the offspring of women with diabetes. The precise mechanism(s) by which these anomalies are induced is unknown. It is also not clear what predisposes women to deliver malformed infants, which infants are at risk, and why some are spared even when exposed to presumably high risk conditions. The purpose of this report is to determine, from the literature, the primary etiologic factors associated with diabetes-induced embryopathy and its prevention. METHODS: A review of the current literature regarding malformations in diabetic pregnancies was conducted to elucidate dominant concepts in the pathogenic mechanism(s) of these anomalies and to discuss current and future strategies for their prevention. RESULTS: Numerous investigators have demonstrated that hyperglycemia has a teratogenic effect during organogenesis. However, the exact mechanisms involved have not been completely elucidated. Dietary supplementation of deficient substrates (arachidonic acid or myo-inositol), either in vitro or in vivo, has been shown to reduce the incidence of diabetes-related malformations in offspring of diabetic pregnant animals. In addition, free oxygen radical-scavenging enzymes and antioxidants aimed at reducing the excess load of radicals also result in a reduced malformation rate. Clinical evidence has demonstrated that the teratogenic effects of hyperglycemia may be obviated by maintaining euglycemia throughout organogenesis. Numerous studies have demonstrated that participation in a preconception care program can reduce the incidence of malformations in women with diabetes to the background rate. Unfortunately, less than 10% of women with diabetes currently enter these programs. CONCLUSIONS: Diabetic embryopathy remains the single most common lethal problem affecting diabetic pregnancies today. Although preconception planning and glycemic control can reduce the incidence of malformations, it is often difficult to get women to attend such programs and to achieve and maintain euglycemia. The use of dietary supplements, which presumably would override the teratogenic effects of aberrant metabolic fuels, holds great promise for the future as a prophylaxis against diabetic embryopathy.

Animals↗

Needle embryofetoscopy and early prenatal diagnosis.

Needle embroyfetoscopy (NEF) permits direct visualization of the embryo/fetus with a specially designed 16-gauge double-barrel instrument sheath which is passed transabdominally into the amniotic cavity. We report the case of a woman with a MSAFP of 2.5 MOM who had declined amniocentesis. A targeted ultrasound examination of the spine revealed what appeared to be spina bifida in the lumbar sacral segments from L2 to S1. The mother elected to undergo NEF at 15 weeks gestation, which was successfully performed and revealed no evidence of a neural tube defect. NEF has a tremendous potential for both early prenatal diagnosis, and possibly fetal treatment.

Adult↗

Sonographic prenatal diagnosis of ambiguous genitalia.

A case report is presented herein of a 33-year-old woman with a history of congenital adrenal hyperplasia in 2 prior births. At 30 weeks of gestation, a scan of the fetal perineum demonstrated ambiguous genitalia which was confirmed at birth. This case demonstrates that when the fetal perineum is well visualized, the diagnosis of normal and abnormal genital development can be made sonographically. This can assist in perinatal/neonatal management, planning and in some cases, can also serve as an additional tool to monitor the success of prenatal steroid therapy of fetal congenital adrenal hyperplasia.

Adrenal Hyperplasia, Congenital↗

Early prenatal diagnosis of bladder exstrophy: case report and review of the literature.

Exstrophy of the urinary bladder is a rare congenital malformation. The first case of sonographic diagnosis, prior to viability, of bladder exstrophy without associated anomalies is presented. The diagnosis before viability allowed the parents to receive counseling on prognosis as well as possible options. This case is unique in that the bladder anomaly was an isolated defect, not associated with any other structural anomaly. The literature on the subject is also reviewed.

Abortion, Therapeutic↗

First-trimester needle embryofetoscopy and prenatal diagnosis.

OBJECTIVE: To demonstrate the efficacy of first-trimester needle embryofetoscopy (or embryoscopy) for prenatal diagnosis in a continuing pregnancy. STUDY DESIGN: A patient at risk for giving birth to an infant with Robert's syndrome was referred for prenatal diagnosis at 12 weeks of gestation. RESULTS: Transabdominal embryoscopy and amniocentesis were performed. Direct visualization of the embryo was achieved and no gross limb or facial abnormalities were seen. Chromosome studies of the amniotic fluid revealed a normal male 46, XY. Special studies with C-banding and DAPI techniques revealed no evidence of premature separation of centromeres. Two- and three-dimensional ultrasound also demonstrated no gross limb or facial abnormalities. CONCLUSIONS: This case confirms the efficacy of embryoscopy as a simple and relatively low-risk approach to first-trimester diagnosis for continuing pregnancies.

Adult↗

The yolk sac theory: closing the circle on why diabetes-associated malformations occur.

OBJECTIVE: The purpose of this article is to examine the role of yolk sac failure during organogenesis in the development of diabetes-associated embryopathy. METHODS: The current literature regarding congenital malformations in diabetic pregnancies was reviewed to elucidate the precise role of the yolk sac in embryonic development and the relation between yolk sac injury and embryopathy. RESULTS: We and others have demonstrated that hyperglycemia produces a teratogenic effect during organogenesis. In addition, we have shown that the yolk sac appears to be the target site of injury induced by hyperglycemia. We have also presented evidence that cell membrane dysfunction leads to failed vitelline vessel formation and that arachidonic acid supplementation prevents many of the morphologic and biochemical alterations observed under hyperglycemic conditions. CONCLUSIONS: These data strongly support the teratogenic effect of hyperglycemia, the arachidonic acid deficiency state, the resultant maldevelopment of vitelline vessels, and the ability to prevent these changes by arachidonic acid supplementation. These studies have made significant inroads in explaining why diabetes-associated anomalies occur, and suggest a potential future role for prophylaxis against these organogenetic malformations using dietary polyunsaturated fatty acid supplementation.

Animals↗