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Edwards syndrome

Trisomy 18 or Edwards Syndrome (named after John H. Edwards) is a genetic disorder. It is the second most common trisomy after Down's Syndrome. It is caused by the presence of three - instead of two - chromosomes 18 in a fetus or baby's cells. more...

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The additional chromosome usually occurs before conception, when egg and sperm cells are made. A healthy egg or sperm cell contains 23 individual chromosomes - one to contribute to each of the 23 pairs of chromosomes needed to form a normal cell with 46 chromosomes. Numerical errors arise at either of the two meiotic divisions and cause the failure of segregation of a chromosome into the daughter cells (non-disjunction). This results in an extra chromosome making the haploid number 24 rather than 23. Fertilization of these eggs or sperm that contain an extra chromosome results in trisomy, or three copies of a chromosome rather than two. It is this extra genetic information that causes all the abnormalities characteristic of individuals with Edwards Syndrome. As each and every cell in their body contains extra information, the ability to grow and develop appropriately is delayed or impaired. This results in characteristic physical abnormalities such as low birth weight; a small, abnormally shaped head; small jaw; small mouth; low-set ears; and clenched fists with overlapping fingers. Babies with Edwards syndrome also have heart defects, and other organ malformations such that most systems of the body are affected.

Edwards Syndrome also results in significant developmental delays. For this reason a full-term Edwards syndrome baby may well exhibit the breathing and feeding difficulties of a premature baby. Given the assistance offered to premature babies, some of these infants are able to overcome these initial difficulties, but eventually succumb.

The survival rate for Edwards Syndrome is very low. About half die in utero. Of liveborn infants, only 50% live to 2 months, and only 5 - 10% will survive their first year of life. Major causes of death include apnea and heart abnormalities. It is impossible to predict the exact prognosis of an Edwards Syndrome child during pregnancy or the neonatal period. As major medical interventions are routinely withheld from these children, it is also difficult to determine what the survival rate or prognosis would be for the condition if they were treated with the same aggressiveness as their genetically normal peers. They are typically severely to profoundly developmentally delayed.

The rate of occurrence for Edwards Syndrome is ~ 1:3000 conceptions and 1:6000 livebirths, as 50% of those diagnosed prenatally with the condition will not survive the prenatal period. Although there is an increased risk of conceiving a child with Edwards Syndrome as a woman's age increases, women in their 20's and 30's still conceive Edwards Syndrome babies.

A small percentage of cases occur when only some of the body's cells have an extra copy of chromosome 18, resulting in a mixed population of cells with a differing number of chromosomes. Such cases are sometimes called mosaic Edwards syndrome. Very rarely, a piece of chromosome 18 becomes attached to another chromosome (translocated) before or after conception. Affected people have two copies of chromosome 18, plus extra material from chromosome 18 attached to another chromosome. With a translocation, the person has a partial trisomy for chromosome 18 and the abnormalities are often less than for the typical Edwards syndrome.

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What medications are effective for treating symptoms of premenstrual syndrome ? - PMS - Clinical inquiries: from the family practice inquiries network
From Journal of Family Practice, 10/1/02 by Jan P. Vleck

EVIDENCE-BASED ANSWER Vitamin B6 (50-100 mg/d) and elemental calcium (1200 mg/d) are safe, inexpensive, and moderately effective (Table) (grade of recommendation: B). Selective serotonin reuptake inhibitors (SSRIs) and some other antidepressants are more effective, but are also more costly and more likely to cause side effects or treatment dropout (grade of recommendation: A). Antidepressant dosing only during the luteal phase may be effective and more tolerable (grade of recommendation: B). Alprazolam (generally 0.25-0.5 mg 3 times a day during luteal phase) may be effective for treating mood or anxiety symptoms (grade of recommendation: B). Hormonal therapies (oral contraceptives, gonadotropin-releasing hormone agonists, danazol, estrogen) lack convincing evidence of efficacy and cause many side effects; progesterone is no more beneficial than placebo (grade of recommendation: B). There is no convincing evidence of benefit from diuretics, magnesium, beta-blockers, or lithium (grade of recommendation: C).

EVIDENCE SUMMARY Pooled results of 9, generally poor-quality studies of Vitamin B6 show some benefit. (1) Doses higher than 100 mg/d may cause peripheral neuropathy. Three small studies in the 1980s suggested possible benefit of Vitamin E; however, these studies have not been further replicated. One well-designed, randomized controlled trial of calcium therapy showed > 50% decrease in symptom complex scores after 3 months in more than half of subjects taking 1200 mg/d supplemental elemental calcium (NNT=6). (2)

Among SSRIs, fluoxetine (20 mg/d) is well-studied and effective. (3) Other SSRIs, including sertraline, paroxetine, fluvoxamine, and venlafaxine, and clomipramine (a tricyclic with serotonin reuptake inhibitor activity), also show benefit but are less well studied. Luteal phase-only dosing may be equally or more effective than continuous dosing for some SSRIs. Benzodiazepines have shown mixed results in treating PMS, and overall their benefit appears smaller than that of SSRIs. (4) Luteal phase-only dosing theoretically reduces the risk of benzodiazepine withdrawal or dependence, but published data are rare.

Gonadotropin-releasing hormone agonists may be effective, but troublesome anti-estrogenic side effects limit their utility. Estrogen and progesterone "add-back" therapy to counter side effects further complicates this approach. The gonadotropin inhibitor danazol has a high treatment dropout rate at higher doses (200-400 mg/d continuously), but can be effective in individuals who are able to tolerate it (3,5); however, danazol is expensive and causes significant androgenic side effects. Lower-dose danazol (200 mg/d luteal phase only) is better tolerated but ineffective. (6) A meta-analysis of progesterone found no evidence to support its efficacy. (7) Oral contraceptives are ineffective for global symptoms, and may actually cause PMS symptoms in some women.

RECOMMENDATIONS FROM OTHERS The American College of Obstetricians and Gynecologists recommend that patients with mild to moderate PMS should receive supportive, lifestyle, and dietary interventions. For severe PMS, SSRIs are the initial drag of choice. Alprazolam may be useful when these interventions are ineffective. Consider oral contraceptives for primarily physical symptoms and reserve gonadotropin-releasing hormone for severe cases unresponsive to other treatments. (8)

REFERENCES

(1.) Wyatt KM, Dimmock PW, Jones PW, Shaughn O'Brien PM. BMJ 1999; 318:1375-81.

(2.) Thys-Jacobs S, Starkey P, Bernstein D, Tian J. Am J Obstet Gynecol 1998; 179:444-52

(3.) Wyatt K. Clinical Evidence 2002; 7:1739-57

(4.) Freeman EW, Rickels K, Sondheimer SJ, Polansky M. JAMA 1995; 274:51-7.

(5.) Watts JF, Butt WR, Logan Edwards R. Br J Obstet Gynaecol 1987;94:30-4.

(6.) O'Brien PM, Abukhalil IE. Am J Obstet Gynecol 1999; 180:18-23.

(7.) Wyatt K, Dimmock P, Jones P, Obhrai M, O'Brien S. BMJ 2001; 323:776-80.

(8.) ACOG Premenstrual Syndrome. ACOG Practice Bulletin No. 15 Washington, DC: ACOG; April 2000.

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COPYRIGHT 2002 Dowden Health Media, Inc.
COPYRIGHT 2002 Gale Group

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