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73 results on '"Simpson, Joe Leigh"'

1. FIGO good practice recommendations for reducing preterm birth and improving child outcomes.

Author

Jacobsson, Bo, Simpson, Joe Leigh, Norman, Jane, Grobman, William, Bianchi, Ana, Munjanja, Stephen, González, Catalina María Valencia, Mol, Ben W., Shennan, Andrew, and FIGO Working Group for Preterm Birth

Subjects
*CERVICAL cerclage, *PREMATURE labor, *CHILDBIRTH, *PLACENTA praevia, *INFERTILITY, *MULTIPLE pregnancy, *UMBILICAL cord clamping, *BEST practices, *PREMATURE infants
Published
2021
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12. Good clinical practice advice: Thyroid and pregnancy.

Author

Di Renzo, Gian Carlo, Gratacos, Eduardo, Kurtser, Mark, Malone, Fergal, Nambiar, Shilpa, Sierra, Nancy, Yang, Huixia, Fuchtner, Carlos, Berghella, Vincenzo, Castelazo Morales, Ernesto, Hanson, Mark, Hod, Moshe, Ville, Yves, Visser, Gerard, Simpson, Joe Leigh, Adra, Abdallah, Bataeva, Roza, Chmait, Ramen H., Cheng, Yvonne, and Hyett, Jon

Published
2019
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13. Good clinical practice advice: First trimester screening and prevention of pre-eclampsia in singleton pregnancy.

Author

Di Renzo, Gian Carlo, Gratacos, Eduardo, Kurtser, Mark, Malone, Fergal, Nambiar, Shilpa, Sierra, Nancy, Yang, Huixia, Fuchtner, Carlos, Berghella, Vincenzo, Castelazo Morales, Ernesto, Hanson, Mark, Hod, Moshe, Ville, Yves, Visser, Gerard, Simpson, Joe Leigh, Adra, Abdallah, Bataeva, Roza, Chmait, Ramen H., Cheng, Yvonne, and Hyett, Jon

Published
2019
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14. Good clinical practice advice: Management of twin pregnancy.

Author

Di Renzo, Gian Carlo, Gratacos, Eduardo, Kurtser, Mark, Malone, Fergal, Nambiar, Shilpa, Sierra, Nancy, Yang, Huixia, Fuchtner, Carlos, Berghella, Vincenzo, Castelazo Morales, Ernesto, Hanson, Mark, Hod, Moshe, Ville, Yves, Visser, Gerard, Simpson, Joe Leigh, Adra, Abdallah, Bataeva, Roza, Chmait, Ramen H., Cheng, Yvonne, and Hyett, Jon

Published
2019
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16. Good clinical practice advice: Iron deficiency anemia in pregnancy.

Author

Di Renzo, Gian Carlo, Gratacos, Eduardo, Kurtser, Mark, Malone, Fergal, Nambiar, Shilpa, Sierra, Nancy, Yang, Huixia, Fuchtner, Carlos, Berghella, Vincenzo, Castelazo Morales, Ernesto, Hanson, Mark, Hod, Moshe, Ville, Yves, Visser, Gerard, Simpson, Joe Leigh, Adra, Abdallah, Bataeva, Roza, Chmait, Ramen H., Cheng, Yvonne, and Hyett, Jon

Published
2019
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18. Integration of microarray technology into prenatal diagnosis: counselling issues generated during the NICHD clinical trial.

Author

Wapner, Ronald J., Driscoll, Deborah A., and Simpson, Joe Leigh

Abstract

ABSTRACT Cytogenetic microarray analysis (CMA) in prenatal testing detects chromosome abnormalities and new genetic syndromes that would be missed by conventional cytogenetics and has the potential to significantly enhance prenatal genetic evaluation. A large Eunice Kennedy Shriver National Institute Of Child Health and Human Development (NICHD)-sponsored multicentered trial to assess the role of CMA as a primary prenatal diagnostic tool has been completed, and results will soon be available. Integration of this technology into clinical care will require thoughtful changes in patient counseling. Here, we examine four cases, all ascertained in the NICHD prenatal microarray study, to illustrate the challenges and subtleties of genetic counseling required with prenatal CMA testing. Although the specifics of each case are distinct, the underlying genetic principles of uncertainty, variable expressivity, and lack of precise genotype-phenotype correlation are well known and already part of prenatal counseling. Counselor and practitioner education will need to include both the science of interpreting array findings as well as development of improved approaches to uncertainty. A team approach to interpretation will need to be developed, as will standardized guidelines by professional organizations and laboratories. Of equal import is additional research into patient attitudes and desires, and a better understanding of the full phenotypic spectrum of copy number variants discovered in utero. © 2012 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

Published
2012
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19. Preimplantation genetic diagnosis at 20 years.

Author

Simpson, Joe Leigh

Abstract

First reported in 1990, PGD has evolved into a complementary form of prenatal diagnosis offering novel indications. DNA for PGD can be recovered with equal safety and facility from polar bodies I and II, blastomere (8 cell embryo) and trophectoderm (5-6 day blastocyst). Diagnostic accuracy is very high (>99%) for both chromosomal abnormalities and single gene disorders. Traditional application of FISH with chromosome specific probes for detecting aneuploidy and translocations may be replaced or complemented by array comparative genome hybridization (array CGH); biopsied embryos can now be cryopreserved (vitrification) while analysis proceeds in orderly fashion. PGD has been accomplished for over 200 different single gene disorders. Novel indications for PGD not readily applicable by traditional prenatal genetic diagnosis include avoiding clinical pregnancy termination, performing preconceptional diagnosis (polar body I), obtaining prenatal diagnosis without disclosure of prenatal genotype (nondisclosure), diagnosing adult-onset disorders particularly cancer, and identifying HLA compatible embryos suitable for recovering umbilical cord blood stem cells. Copyright © 2010 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

Published
2010
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20. Genetic and Phenotypic Heterogeneity in Ovarian Failure.

Author

Simpson, Joe Leigh

Subjects
*PREMATURE ovarian failure, *PHENOTYPES, *EMBRYOLOGY, *DISEASES in women, *GERM cells, *DISEASES, *WOMEN'S health, *GYNECOLOGY, *ANOVULATION
Abstract

Ovarian failure is heterogeneous, both in cause and in phenotype. Women whose menses cease prior to age 40 years and have menopausal FSH levels are traditionally considered by clinicians to have the diagnosis of “premature ovarian failure” (POF). In fact, however, the ovarian function in this disorder is in reality a continuum of impairment in ovarian responsiveness. For this reason the term “primary ovarian insufficiency” (POI) has been suggested to be more accurate. It would be yet more desirable to classify this disorder on the basis of aberrant embryonic differentiation rather than the state of ovarian function. Genes that exert known hormonal effects (FSH, FSHR, LH, LHR, CYP17, CYP19) primarily affect follicle function, as do BMP15, GDF9, and GPR3. These genes mutations have occasionally been found in humans, but none are common. Still other genes expressed during oogenesis appear more likely to be characterized by lack of germ cell formation. These include DNA binding proteins and transcription factors like NOBOX and LHX8, and RNA binding proteins like NANOS. Plausible causative mutations have been identified in a few women (NOBOX, GDF9, LDX8), but even then only 1–2% of cases show a perturbation. Thus, considerable heterogeneity—phenotypic as well as etiologic—exists in ovarian failure, irrespective of whether follicles do or do not develop. Analysis of other genes is necessary, including many likely to show novel mechanisms of action. [ABSTRACT FROM AUTHOR]

Published
2008
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22. Hypoxia-Induced Membrane-Bound Apoptotic DNA Particles.

Author

OROZCO, AARON F., BISCHOFF, FARIDEH Z., HORNE, CASSANDRA, POPEK, EDWINA, SIMPSON, JOE LEIGH, and LEWIS, DOROTHY E.

Subjects
PREGNANCY, PRENATAL diagnosis, APOPTOSIS, DNA, MOTHERS, CELL death
Abstract

Fetal DNA is found in the plasma of pregnant women that appears to be stable for PCR amplification. Although the underlying mechanism giving rise to this DNA in plasma remains unclear, the source of these fragments may be from apoptotic bodies (Apo-Bodies) created from dying cells. Trophoblast apoptosis is essential for normal placental development, given the enormous amount of proliferation, differentiation, and migration during pregnancy. Through flow cytometric analysis coupled with real-time PCR, our lab has shown that aggregates of acridine orange (AO)-stained material (apoptotic particles) are resistant to DNase treatment, disrupted by sodium dodecyl sulfate (SDS), and contain fetal DNA. Because the placenta continuously remodels in an hypoxic environment, our hypothesis is that fetal DNA in maternal plasma comes from hypoxia-induced dying trophoblasts and that this DNA circulates predominately in the form of Apo-Bodies. We have developed a model culture system for analysis of Apo-Bodies derived from JEG-3 cells, an extravillous trophoblastic cell line, undergoing various methods of cell death: hypoxia-induced, etoposide-induced, and heat stress (necrosis like)–induced cell death. Under conditions of similar propidium iodide (PI) uptake, suggesting comparable levels of death, both hypoxia- and etoposide-induced Apo-Bodies increase in concentration over time, whereas heat-induced levels of particles remain fairly constant, indicating that production of DNA-associated Apo-Bodies is a continuous process. Hypoxia, which is likely to be responsible for trophoblast cell death in vivo, produced membrane-bound Apo-Bodies containing DNA. Our results are consistent with the characteristics of membrane-bound particles containing fetal DNA found in maternal plasma. [ABSTRACT FROM AUTHOR]

Published
2006
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23. Genetic Basis of Endometriosis.

Author

BISCHOFF, FARIDEH and SIMPSON, JOE LEIGH

Subjects
GENETIC disorders, GENES, NANOTECHNOLOGY, ENDOMETRIOSIS, HEREDITY, ENDOMETRIUM
Abstract

Endometriosis is a complex gynecologic disorder that has long been recognized as showing heritable tendencies, with recurrence risks of 5-7% for first-degree relatives. Familial and epidemiologic studies support that this disease is a genetic disorder of polygenic/multifactorial inheritance. The current investigational challenge is to determine the number and location of causative genes. Recent advances in molecular technology make identification and elucidation of these genes now possible. In this review, we update previous communications in which we also reviewed heritability studies supporting polygenic/multifactorial inheritance, discuss the scientific basis of genomewide strategies for identifying causative genes, and identify potential candidate genes. [ABSTRACT FROM AUTHOR]

Published
2004
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34. Risk factors associated with transcervical CVS losses.

Author

Golbus, Mitchell S., Simpson, Joe Leigh, Fowler, Sarah E., de la Cruz, Felix, Desnick, Robert J., Wapner, Ronald, Ledbetter, David H., Lubs, Herbert, Mahoney, Maurice J., Pergament, Eugene, Rhoads, George G., Schulman, Joseph D., Zachary, Julia, Golbus, M S, Simpson, J L, Fowler, S E, de la Cruz, F, Desnick, R J, Wapner, R, and Ledbetter, D H

Published
1992
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45. The Illusory "Level Playing Field".

Author

Genel, Myron, Ljungqvist, Arne, Simpson, Joe Leigh, Ferris, Elizabeth, Carlson, Alison, and Dreger, Alice

Subjects
GENDER identity, DIAGNOSTIC sex determination, SPORTS, WOMEN athletes, ATHLETIC associations
Abstract

A letter to the editor is presented in response to a series of essays on sports in the March-April 2010 issue.

Published
2010
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