Cancer gene test for all women

A new, simple genetic test could improve the way breast cancer screening is approached in the UK, according to leading Cancer Research UK scientists. In a report published in the New England Journal of Medicine, the Cambridge University-based research team identified seven new gene variants that are associated with an increased risk of developing breast cancer. They found that by examining which of these variants a woman carries, they could classify the likelihood that she will develop breast cancer as being low, moderate or high. They suggest that this could affect the age at which a woman is encouraged to start having mammograms, and how frequently she subsequently has them.
Breast cancer is the second most common cancer in the UK affecting both men and women, and the risk of developing it is known to be partly influenced by an individual’s genetic makeup. Two well-known but rare gene variants in the genes BRCA-1 and BRCA-2 carry with them between a 36 and 85 per cent chance of developing breast cancer. Screening for these gene variants is currently offered to women with a strong family history of breast cancer. In the new study, the researchers pinpointed seven additional gene variants that are also associated with an increased susceptibility to breast cancer. Importantly, they found that although each of these gene variants individually carries only a mildly increased risk of developing breast cancer, having two or more of these gene variants in combination carries a much greater increased risk.
Currently, NHS mammograms are offered to all women over 50. The researchers propose that testing women for these genetic variants would enable a more targeted approach to breast cancer screening. Dr Paul Pharoah, a member of the Cambridge team explained: ‘We believe genetic testing has the potential to enable doctors to identify a woman at an increased risk of breast cancer who would benefit from mammography at an early age… and would also identify a 55-year-old woman with a low chance of breast cancer who possibly wouldn’t need such regular checks’.
The genetic test would involve just a simple mouth swab and the technology required is already available. However, the proposal was met with some caution. The researchers estimate that these seven gene variants account for only a third of the genes that influence the risk of developing breast cancer, so the test could not be considered to be comprehensive. Dr Sarah Cant of Breakthrough Breast Cancer commented that the study ‘raises interesting questions about how information on risk could be used to help decide who is eligible for screening’, adding: ‘However, breast cancer risk is affected by lifestyle and environment as well as genetics. These also need to be taken into account when determining risk’.

Misguided fertility beliefs common in young people

Young people are aware that negative lifestyle factors reduce fertility but falsely believe in fertility myths and the benefits of healthy habits, say researchers.

The UK-based team used a 21-item questionnaire to assess fertility knowledge in 110 female and 39 male under- and postgraduate university students, with an average age of just over 24 years.

Participants were far better at identifying fertility risks than myths, and better at identifying the latter than illusory benefits of healthy habits, with average correct scores of 90.70 percent, 41.53 percent, and 26.46 percent, respectively.

All risk factors, such as smoking and being overweight, were correctly identified, report Laura Bunting and Jacky Boivin from Cardiff University.

However, participants mistakenly believed that they could increase their fertility, for example by moving to the countryside, using specific coital techniques, eating fruit and vegetables, or adopting a child.

They also believed that "not doing" something unhealthy, for example never drinking alcohol, could increase fertility instead of simply reducing exposure to risk and its effects.

"Together these results would suggest that people could, if faced with a fertility problem, engage in ineffective behaviors that could delay seeking effective interventions," the researchers conclude.

One In Ten

A South Carolina couple, both rednecks, had 9 Children. They went to the doctor to see about getting the husband 'fixed'. The doctor gladly started the required procedure and asked them what finally made them make the decision. Why after nine children would they choose to do this.
The husband replied that they had read in a recent Article that one out of every ten children being Born in the United States was Mexican, and they Didn't want to take a chance on having a Mexican Baby because neither of them could speak Spanish.

Tired old dog

An older, tired looking dog wandered into my yard. I could tell from his collar and well fed belly, that he had a home and was well taken care of. He calmly came over to me and I gave him a few pats on the head, whereupon he followed me into my house, slowly walked down the hall, curled up in a corner and went fast asleep.

An hour later he went to the door and I let him out. The next day he was back, greeted me in my yard, walked inside and resumed his spot in the hall and slept for about an hour.

This continued off and on for several weeks. Curious, I pinned a note to his collar: 'I would like to find out who the owner of this wonderful sweet dog is, and ask if you are aware that almost every afternoon your dog comes to my house to take a nap'.

The next day he arrived for his nap, with a different note attached to his collar: 'He lives in a home with 6 children, two under the age of three - he's just trying to catch up on his sleep.'

HDL linked to oocyte health and embryo development

High-density lipoprotein (HDL) in follicular fluid (FF) and its component proteins appear to have protective roles in the health of oocytes and early embryo development, US study findings indicate.

R. Browne, from University at Buffalo, State University of New York, and colleagues determined HDL lipids, apolipoprotein (Apo)AI, paraoxonase (PON)1, and PON3 activity in serum and FF samples obtained from 60 women undergoing IVF.

Embryo cell number (ECN) and embryo fragmentation score (EFS) were used as embryo morphology parameters and surrogate markers of oocyte health.

In FF, all biochemical parameters were significantly lower than in serum, aside from PON3 levels, which were significantly higher in FF than in serum.

EFS was negatively predicted by HDL and ApoAI levels in FF, at respective odds ratios of 0.66 and 0.13. However, their effects were not independent, with levels of one moderating the effects of the other.

In addition, when the analysis was restricted to day 3 embryo transfers, PON1-arylesterase activity in FF was a significant predictor of ECN, at an odds ratio of 1.09.

"Our pilot study establishes the possibility that HDL and/or its component proteins have the potential to predict embryo fragmentation and cell number in women undergoing IVF," the team concludes.

Sildenafil shows pregnancy benefits in women with recurrent miscarriage

Vaginal sildenafil may be a therapeutic option for improving the chances of successful pregnancy in women with a history of recurrent miscarriage, study findings show. Malgorzata Jerzak (Military Institute of Health Sciences, Warsaw, Poland) and colleagues found that sildenafil citrate improved the quality of the endometrium and the immunologic environment in these patients.

For the study, 38 nonpregnant women with a history of recurrent miscarriage and 37 healthy women with previous successful pregnancies self-administered sildenafil suppositories 25 mg intravaginally, four times a day for 36 days. Peripheral blood natural killer (NK)-cell activity was significantly increased in the miscarriage patients compared with controls before treatment, at 15.67 versus 8.29 percent. But after vaginal sildenafil therapy, NK-cell activity was significantly reduced in the miscarriage patients by an average of 5.45 percent.

Endometrial thickness, which was significantly reduced in the miscarriage group compared with the control group, increased significantly after sildenafil therapy, from 8.06 mm to 9.25 mm.

"The mechanism of sildenafil's influence on NK cells is unknown; however, it can not be excluded that improvement in uterine artery flow has efficient influence on the local endometrial NK-cell population, and the diminished NK cell activity may promote successful pregnancy outcome," say Jerzak et al.

"Additionally, sildenafil significantly improves endometrial thickness, which is especially important in successful implantation."

AFC predicts ovarian response in egg donors

Antral follicle count (AFC) is a noninvasive and simple tool that can predict ovarian response among women who donate their eggs, a study indicates. In an effort to find a prognostic predictor that can improve the selection process of oocyte donors with normal baseline endocrine determinations, Spanish researchers assessed the value of AFC in predicting ovarian response and IVF outcome.

AFC was determined on the first day of controlled ovarian hyperstimulation in 1,074 donors, after pituitary down-regulation had been confirmed. Donors with an AFC of less than 10 had lower estradiol levels and fewer mature retrieved oocytes than others. These donors also had significantly higher cancellation and no-donation rates; almost 50 percent of cycles were cancelled in this group, with poor or insufficient response the cause in 82 percent of cases.

However, there were no differences between donors regarding embryo development parameters and IVF outcomes in 975 oocyte recipient cycles.

Marco Antonio Barreto Melo and colleagues conclude: "This study suggests that the AFC is a good predictor of controlled ovarian hyperstimulation in oocyte donors but that it cannot predict oocyte/embryo quality or, consequently, IVF outcome."