The interface between medically assisted reproduction and genetics: technical, social, ethical and legal issues*

¹⁹ To whom correspondence should be addressed at: Department of Medical Genetics, University of Turku, Kiinamyllykatu 10, FIN-20520 Turku, Finland. E-mail: hkaaria{at}utu.fi^* Reprinted from European Journal of Human Genetics (2006) 1–58 with permission. The views expressed in this study do not necessarily reflect those of the European Commission (EC). The interface between assisted reproductive technologies (ART)and genetics comprises several sensitive and important issuesthat affect infertile couples, families with severe geneticdiseases, potential children, professionals in ART and genetics,health care, researchers and the society in general. Geneticcauses have a considerable involvement in infertility. Geneticconditions may also be transmitted to the offspring and hencecreate transgenerational infertility or other serious healthproblems. Several studies also suggest a slightly elevated riskof birth defects in children born following ART. PGD has becomewidely practiced throughout the world for various medical indications,but its limits are being debated. The attitudes towards ARTand PGD vary substantially within Europe. The purpose of thisarticle was to outline a framework for development of guidelinesto be issued jointly by European Society of Human Genetics (ESHG)and European Society of Human Reproduction and Embryology (ESHRE)for the interface between genetics and ART. Technical, social,ethical and legal issues of ART and genetics will be reviewed.     

Associations of Body Mass and Body Fat Distribution with Parity Among African-American and Caucasian Women: The CARDIA Study

Associations of parity with body fat and its distribution are poorly understood; therefore, we examined the relationships between parity and obesity in young adult women. Body mass index (BMI), skin folds, and waist-hip ratio were compared in 1452 African-American and 1268 Caucasian nonpregnant women aged 18 to 30, adjusting for age (where no age-parity interactions were present), education, physical activity (assessed by questionnaire) and fitness (assessed by graded exercise test), dietary fat intake, alcohol and smoking. Adjusted mean BMI was significantly higher in African-American women aged 25–30 years with three or more children (28.5 kg/m²) than in those with two (27.0 kg/m²), one (26.2 kg/m²), or no children (26.3 kg/m²). Similar trends were found in Caucasians (BMI = 23.3, 23.4, 23.7, 25.0 kg/m² for parity = 0,1, 2, ≥ 3, respectively), but the mean BMI was significantly higher in African Americans in each parity group. The association between BMI and parity was not present among women 18–24 years of age. Skinfolds were directly associated with parity in African Americans only. Waist-hip ratios were generally lower among nulliparous than parous women in both ethnic groups; race differences were present only among nulliparas. In conclusion, parity was associated with BMI in women aged 25 to 30 years but did not explain ethnicity-related differences in body mass.     

Dream work with children: Perceptions and practices of school mental health professionals.

In this study, 49 public school mental health practitioners (school counselors, school psychologists, and school social workers) completed a survey about working with students’ dreams. The majority of these practitioners reported having at least one student bring up dreams during counseling, more frequently with troubling dreams and nightmares or when coping with grief. Results showed that practitioners were less likely to talk about dreams with students who had been identified with an adjustment disorder, psychosis, or eating disorder; those who were oppositional or ill; and those who struggled with substance abuse problems. Although most practitioners did not feel competent working with children’s dreams and reported minimal training in dream work, they were interested in learning more about children’s dreams and potential uses of dream work in supportive counseling. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

The discovery of VU0652957 (VU2957, Valiglurax): SAR and DMPK challenges en route to an mGlu4 PAM development candidate

This letter describes the first account of the chemical optimization (SAR and DMPK profiling) of a new series of mGlu₄ positive allosteric modulators (PAMs), leading to the identification of VU0652957 (VU2957, Valiglurax), a compound profiled as a preclinical development candidate. Here, we detail the challenges faced in allosteric modulator programs (e.g., steep SAR, as well as subtle structural changes affecting overall physiochemical/DMPK properties and CNS penetration).     

The lignicolous fungus Trametes versicolor (L.) Lloyd (1920): a promising natural source of antiradical and AChE inhibitory agents

This study aimed to determine antiradical (DPPH^? and ^?OH) and acetylcholinesterase (AChE) inhibitory activities along with chemical composition of autochtonous fungal species Trametes versicolor (Serbia). A total of 38 phenolic compounds with notable presence of phenolic acids were identified using HPLC/MS-MS. Its water extract exhibited the highest antiradical activity against ^?OH (3.21?μg/mL), among the rest due to the presence of gallic, p-coumaric and caffeic acids. At the concentration of 100?μg/mL, the same extract displayed a profound AChE inhibitory activity (60.53%) in liquid, compared to donepezil (89.05%), a drug in clinical practice used as positive control. The flavonoids baicalein and quercetin may be responsible compounds for the AChE inhibitory activity observed. These findings have demonstrated considerable potential of T. versicolor water extract as a natural source of antioxidant(s) and/or AChE inhibitor(s) to be eventually used as drug-like compounds or food supplements in the treatment of Alzheimer’s disease.     

Cardiovascular Disease in Women Update: Ischemia,Diagnostic Testing,and Menopause Hormone Therapy

ObjectiveThis update will address 3 areas specifically that are essential to improving cardiovascular outcomes for women.MethodsThe current literature has been reviewed and three important areas of cardiovascular care in women are highlighted. First is that even though women and men share many traditional risk factors for ischemic heart disease, several of these risk factors affect women disproportionately when it comes to CVD risk and events. There are also unique sex-specific risk factors for women and risk factors that are more common in women than in men. Adverse outcomes of pregnancy and hypertensive disorders of pregnancy are associated with an increased long-term risk of CVD and events. At menopause, cardiovascular risks increase, and lipids become unfavorable. Second is that diagnostic testing for ischemic heart disease presents different specificities and sensitivities between men and women and testing should be determined according to what is best and safest for women. Third is that currently, menopause hormone therapy is approved by the U.S. Food and Drug Administration for the treatment of vasomotor and genitourinary symptoms, prevention of osteoporosis, and estrogen replacement in the setting of surgical menopause, hypogonadism, or premature ovarian insufficiency. It is not recommended for the primary or secondary prevention of CVD and not recommended for women with high atherosclerotic CVD risk.ResultsCardiovascular disease (CVD) remains the most common cause of death in women in the United States despite tremendous improvements in cardiovascular care for men and women. The prevention of CVD in women with early detection and implementation of preventive therapies before atherosclerotic CVD develops is critical to improving outcomes for women.