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Jacobs syndrome

XYY syndrome is a aneuploidy of the sex chromosomes in which a human male receives an extra Y chromosome in each cell, hence having a karyotype of 47,XYY. XYY syndrome is also called Jacob's Syndrome, XYY-trisomy, 47,XYY aneuploidy, or Supermale syndrome. more...

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First case

The first published report of a man with a 47,XYY chromosome constitution was by Dr. Avery A. Sandberg, et al. of Buffalo, New York in 1961. It was an incidental finding in a normal 44-year-old, 6 ft. tall man of average intelligence.

Effects

Physical traits

XYY syndrome typically causes no unusual physical features or medical problems. Males with this syndrome may be slightly taller than average and are typically a few centimeters taller than their father and siblings.

Skeletal malformations may also accompany XYY syndrome at a higher rate than in the general population. Severe facial acne has occasionally been reported, but dermatologists specializing in acne (Plewig & Kligman, 2000) now doubt the existence of a relationship with XYY. Several other physical characteristics, including large hands and feet, have been associated (although not definitively) with XYY syndrome. Any physical characteristics, however, are usually so slight that they are insufficient evidence to suggest a diagnosis.

Most males with XYY syndrome have normal sexual development and are able to conceive children.

Since there are no distinct physical characteristics, the condition usually is only detected during genetic analysis for other reasons.

Behavioral characteristics

XYY boys have an increased risk of minor speech and motor skill delays and learning disabilities with roughly half requiring some special education intervention. Behavior problems are common but are not unique to XYY boys and managed no differently than XY boys.

Cause and prevalence

XYY syndrome is not inherited, but usually occurs as a random event during the formation of sperm cells. An error in cell division called nondisjunction can result in sperm cells with an extra copy of the Y chromosome. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra Y chromosome in each of the body's cells. In some cases, the addition of an extra Y chromosome occurs as an accident during cell division in early fetal development.

The incidence of this condition is approximately one in 850 males.

Read more at Wikipedia.org


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PMS - dietary supplements in treatment of premenstrual syndrome
From Nutrition Action Healthletter, 10/1/01 by David Schardt

Can Supplements Provide Relief?

PMS ... three letters that spell dread for millions of women and their families and co-workers.

Mood swings, depression, tension, anxiety, anger, crying spells, swelling, breast tenderness, bloating, headache, fatigue, cravings for sweets or salts, cramping, lower backache, and overall aches and pains. These symptoms of premenstrual syndrome make life uncomfortable for up to 75 percent of women each month during the days leading up to menstruation.

It's no wonder that magazines, books, Web sites, and direct marketers tout more than 300 different PMS treatments. (For women with severe symptoms, prescription drugs like Prozac may help.) Here are six of the most popular dietary supplements.

"Can reduce the physical and emotional symptoms of PMS by almost 50%." --GlaxoSmithKline

Can plain old calcium, the chalky mineral that wards off osteoporosis and maybe colon cancer and high blood pressure, also cure the blues and aching of PMS?

"Calcium carbonate was an effective treatment for all the main symptoms of PMS in our study at 12 health centers around the country," says Susan Thys-Jacobs of St. Luke's-Roosevelt Hospital Center in New York City. The trial was funded by the manufacturer of Tums for Life PMS calcium carbonate supplements, GlaxoSmithKline, for whom Thys-Jacobs serves as a consultant.

In the largest controlled study of a dietary supplement for PMS so far, Thys-Jacobs and her colleagues asked 466 women suffering from PMS to keep track of 17 symptoms, including mood swings, crying spells, bloating, food cravings, and headaches, every day for three months.(1)

During that time, half of. the women took 1,200 mg of calcium in the form of Tums for Life PMS each day, while the other half were given a look-alike (but calcium-flee) placebo.

By the third month, the average symptom score among the calcium-takers had fallen by 52 percent, significantly more than the 35 percent drop in the average score of the placebo-takers. And the relief wasn't trivial:

* 55 percent of the calcium-takers (vs. 36 percent of the placebo-takers) experienced at least a 50 percent improvement in their symptoms,

* 29 percent of the calcium-takers (vs. 16 percent of the placebo-takers) experienced at least a 75 percent improvement, and

* eight percent of the calcium-takers (vs. 24 percent of the placebo-takers) got worse.

What's more, says Thys-Jacobs, calcium relieved all four major categories of PMS distress: negative affect (depression, anger, and mood swings), water retention, food cravings, and pain (cramping and lower backache). While the study used the Tums brand, other brands of calcium carbonate or other forms of calcium (citrate, etc.) should work just as well.

"It's a very impressive study," says PMS expert Teri Pearlstein of the Brown University School of Medicine in Providence, Rhode Island. "Calcium is good for you, it's inexpensive, and it's a reasonable first choice, started alone or together with prescription medication for PMS."

Bottom Line: The evidence that calcium can help relieve PMS symptoms is better than the evidence for any other dietary supplement.

Cost (for 1,200 mg a day): about $5 a month.

(1) American Journal of Obstetrics and Gynecology 179: 444, 1998.

"Chasteberry provides real relief for PMS." --Natural Foods Merchandiser

The chasteberry (also called vitex) fruit was used for centuries to quench sexual desire, particularly in monks. Today, its extracts are used in Europe to treat PMS and cyclic mastalgia (breast tenderness or pain).

"Chasteberry and calcium are the two supplements that I think have the best evidence so far for treating PMS," says Brown University's Teri Pearlstein. The one good test was sponsored by a chasteberry extract manufacturer and published earlier this year.(1) German researchers asked 170 women with PMS to keep track of six symptoms (irritability, mood alteration, anger, headache, breast fullness, and bloating) every day for three months.

During that time, half of the women took 20 mg of chasteberry extract each day, while the other half were given a look-alike (but chasteberry-free) placebo.

Fifty-two percent of the chasteberry-takers recorded a significant improvement in their symptoms, compared with only 24 percent of the placebo-takers.

(The chasteberry extract that was used in the German study is called ZE 440. GNC plans to start selling it in the U.S. this fall.)

Although the side effects reported by study participants were infrequent and mild, pregnant or breastfeeding women shouldn't take chasteberry. The herb may interfere with prolactin, a hormone released by the brain to stimulate breastfeeding.

Bottom Line: Worth a try.

Cost: The ZE 440 extract is not yet available here.

(1) British Medical Journal 322:134, 2001.

"Don't let PMS get you down ... feel your best everyday with PMS Escape!" --www.pmsescape.com

PMS Escape is a drink mix consisting of sugar and starch that has been designed to raise levels of serotonin, a chemical messenger in the brain. When serotonin drops--there's evidence that it does in some women with PMS--people may feel moody and depressed.

Only one decent study has been done and it has its limitations. The average mood score (which reflected tension, anger, depression, and confusion) of 24 women with PMS was significantly better three hours after they drank PMS Escape than after they drank a placebo beverage.(1) But each woman drank the PMS Escape only once during the study. And the researchers didn't monitor physical symptoms like swelling, cramping, and aches. The drink did supress cravings for sweet and starchy carbohydrates, however. A second study was never completed.

"The research looks promising," says Margaret Moline of the Department of Psychiatry at New York Presbyterian Hospital-Weill Medical College of Cornell University in White Plains, New York. "But it didn't clarify how women with PMS should take the drink--every couple of hours or as needed."

Bottom Line: Limited research. If you try it, keep in mind that each drink contains 190 calories.

Cost: $1.20 per drink.

(1) Obstetrics and Gynecology 86(4 Pt 1): 520, 1995.

"Vitamin B6 is effective in relieving some of the symptoms of PMS, including depression, breast tenderness and bloating." --www.symmcorp.com

For 25 years, researchers have been looking at whether vitamin B-6 can help relieve some of the symptoms of PMS. The best you can say is that the research is flawed ... and any effect is modest.

In 1999, a meta-analysis pooled the results of the nine best trials that have tested vitamin B-6 on PMS.(1) Overall, women were more likely to report improvement when they were taking B-6 than when they were taking a placebo. But because the studies were so poorly designed, the researchers concluded that "there is insufficient evidence of high enough quality to give a confident recommendation for using vitamin B-6 in the treatment of premenstrual syndrome."

In the best of the nine studies, 204 women who took 50 mg to 200 mg a day of B-6 said that they felt better overall than 230 women who took a look-alike (but inactive) placebo. But they didn't report any improvement in depression, irritability, breast tenderness, bloating, headache, or any other symptoms.(2)

"The meta-analysis was interesting because it showed that B-6 was mildly more effective than a placebo," says Teri Pearlstein of Brown University, "but the difference wasn't that impressive. If it works for an individual woman, that's great."

More certain is the vitamin's toxicity. "Megadoses of B-6 have been reported to cause peripheral nerve problems in the legs and feet," cautions Margaret Moline of the New York Presbyterian Hospital-Weill Medical College. "So women should be careful about how much B-6 they consume." Fortunately, the nerve damage is reversible when people stop taking the high doses. (The National Academy of Sciences has set an Upper Limit for vitamin B-6 of 100 mg a day.)

Bottom Line: The research is flawed. If you want to try B-6, don't take more than 100 mg a day.

Cost (for 100 mg a day): about $2.00 a month.

(1) British Medical Journal 318:1375, 1999.

(2) Journal of International Medical Research 13:174, 1985.

"Evening Primrose Oil ... may be helpful for many symptoms of PMS and menopause." --www.greencanyon.com

Evening Primrose Oil (EPO), which is extracted from the seeds of a native American wildflower, is a rich source of gamma-linolenic acid (GLA), which our bodies convert into prostaglandins, some of which regulate pain and inflammation.

In the two best-designed trials, which involved a total of 65 women, four to six grams of EPO taken every day for three to four months was no more effective than a look-alike (but EPO-free) placebo.(1,2) The women reported no side effects.

Bottom Line: Don't expect it to work.

Cost (for 4-6 grams a day): about $50-$100 a month.

(1) Obstetrics and Gynecology 81: 93, 1993.

(2) Medical Journal of Australia 153:189, 1990.

"Magnesium's role in alleviating PMS has made big news ..." --Health World Online

"The evidence that magnesium helps with PMS is mixed," says Brown University's Teri Pearlstein.

In the biggest study done so far, 200 mg of magnesium each day for one month had no effect on the symptoms of 44 women with PMS.(1) When the magnesium was combined with 50 mg of vitamin B-6, the women's anxiety-related premenstrual symptoms (like nervous tension, mood swings, irritability, and anxiety) improved modestly.

In an earlier study, 200 mg of magnesium each day for two months reduced water retention reported by 38 women with PMS.(2) But the mineral had no effect on their anxiety, cravings, depression, or overall symptoms.

Bottom Line: Don't expect it to work.

Cost (for 200 mg a day): about $1 a month.

(1) Journal of Women's Health & Gender-Based Medicine 9:131, 2000.

(2) Journal of Women's Health 7:1157, 1998.

COPYRIGHT 2001 Center for Science in the Public Interest
COPYRIGHT 2001 Gale Group

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