Booster Shots

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Category: sickle cell disease

Adults with sickle cell disease suffer mental impairment, study finds

May 11, 2010 |  3:28 pm

Adults with even mild forms of sickle cell disease scored lower on tests of brain function than their healthy cohorts, suggesting that the disorder has a bigger impact on the brain than had previously been recognized, researchers reported Tuesday.  The effects were found to become more severe with increasing age and more severe presentations of the disorder. A recent report showed that children with the disorder can suffer mental impairment, but the new study reported in the Journal of the American Medical Assn. is the first to look at brain function in adults.Sicklecell

Sickle cell disease, which affects about one in every 350 African American children, is a genetic disorder that causes red blood cells to assume a sickle shape under stress, clogging blood vessels and producing episodes of excruciating pain, called crises. The clogged vessels can damage all internal organs and can be lethal if not treated. At least a quarter of victims suffer strokes. Most victims used to die in childhood or adolescence, but improvements in therapy have increased lifespans past the age of 50.

The primary treatment is the drug hydroxyurea, which reduces crises by 50% and  mortality by 40%. The disease can be cured by bone marrow transplants, but those entail risks of their own and most patients do not have suitable donors. It is also treated with blood transfusions.

In the new study funded by the National Heart, Lung and Blood Institute, Dr. Elliott Vichinsky of Children's Hospital & Research Center in Oakland and his colleagues studied 149 adult sickle cell patients for whom imaging showed no significant impact on the brain and compared them with 47 healthy people from the same community. The patients were all considered to have a mild form of the disease because they had not suffered frequent pain, hospitalization, stroke, hypertension or other characteristic problems.

The subjects were given a variety of tests of mental functioning. On average, the sickle cell patients were in the normal range, but a third of them scored significantly below normal levels, compared with only 15% of the healthy controls. Those with the lowest scores were older and had the lowest levels of hemoglobin, the oxygen-carrying component of red blood cells.

"This study suggests that some adult patients who have sickle cell disease may develop cognitive problems, such as having difficulty organizing their thoughts, making decisions or learning, even if they do not have severe complications such as stroke," Dr. Susan B. Shurin, acting director of the NHLBI, said in a statement. "Such challenges can tremendously affect a patient's quality of life, and we need to address these concerns as part of an overall approach to effectively managing sickle cell disease."

Vichinsky is now testing new therapies for the disorder, such as blood transfusions every two to three months, to determine whether they can reduce the disorder's effect on the brain.

-- Thomas H. Maugh II

Blood transfusions are one treatment for sickle cell disease, which has been found to impair mental functioning in adults. Credit: Baltimore Sun / Jed Kirschbaum

Treating transsexual kids: wait for, then delay puberty to treat

September 17, 2009 |  1:33 pm

The nation's oldest and largest organization of endocrinologists has recommended that physicians treating children with gender identity disorder intervene to delay puberty at its first signs and wait until a child is at least 16 before offering hormonal therapy that would begin his or her gender transition.

In a new clinical practice guideline unveiled today, the Endocrine Society tackled some of the most ethically sensitive decisions endocrinologists face in the treatment of those who are born of one gender, but identify themselves strongly with the opposite gender. Indeed, the society urges that its physicians rely on a mental health professional to render a diagnosis of transsexualism, which is termed gender identity disorder in the psychiatric profession's current diagnostic manual.

The new practice guidelines also recommend that no action be taken to intervene in the hormonal balance of a young child who identifies as the opposite gender of his or her birth. "A diagnosis of transsexualism in a child who has not gone through puberty cannot be made with certainty," the group concluded. 

At the first signs of puberty, however, the new guidelines recommend that physicians use hormone therapy strictly for the purpose of suppressing pubertal changes until an adolescent has reached the age of 16. At that point, the group concluded, "cross-sex hormones may be given."

Those guidelines come at a time when many of those with "gender dysphoria"--persistent distress over one's gender at birth--are asking to begin gender reassignment hormonal therapy and/or surgery at an earlier and earlier age. While surgeons have been reluctant to do gender reassignment surgery on a patient under 18, endocrinologists often face pressure from would-be transsexuals to offer earlier, interim treatment. The new guidelines are likely to set a standard that many endocrinologists will follow in such cases.

"Transsexual persons experiencing the confusion and stress associated with feeling 'trapped' in the wrong body look to endocrinologists for treatment that can bring relief and resolution to their profound discomfort," said Dr. Wylie Hembree, a Columbia University endocrinologist who chaired the committee drafting the guidelines. The new guidelines, he added in a news release, are intended to provide "science-based recommendations" for practitioners to provide "safe and effective treatment" to those diagnosed with Gender Identity Disorder.

The transgender community has advocated for changes in the psychiatry's approach to the diagnosis of gender identity disorder, which is now being revisited in drafting sessions for the profession's diagnostic manual. Among the transgender community's concerns: that current definitions of Gender Identity Disorder lump the diagnosis under "paraphilias," contribute to stigmatization, and fail to support the goals of gender transition and access to surgical and hormonal therapies in treatment of GID.

The new practice guidelines are published in the September issue of the Endocrine Society's Journal of Clinical Endocrinology & Metabolism. For a somewhat dated discussion of the ethical issues involved, check out this article from Salon. And if you feel you were born into a body of the wrong gender, here's a place to seek help and support.

-- Melissa Healy

NIH stops trial of drug for sickle cell patients

July 28, 2009 | 10:46 am

The National Institutes of Health has halted a clinical trial using sildenafil to treat pulmonary hypertension in sickle cell patients after preliminary results showed that the drug was actually increasing sickle crises rather than reducing them.

Sildenafil, sold by Pfizer as Cialis for erectile dysfunction and as Revatio for treating pulmonary hypertension in otherwise healthy adults, relaxes blood vessels, helping to prevent blockages that induce painful sickle crises, which can resemble heart attacks. The new study, sponsored by the NIH's National Heart, Lung and Blood Institute, was designed to show that it would work in adults with sickle cell disease as well. About 30% of sickle cell patients suffer from pulmonary hypertension, a debilitating condition of high blood pressure in the arteries thatcarry blood to the lungs. It can lead to heart failure and death. Researchers tested the patients' ability to walk rapidly on a treadmill for six minutes -- hence the name Walk-PHaSST for the trial.

With nearly a year left to go on the trial, officials halted it when a preliminary study of 33 patients who had completed at least 16 weeks of treatment showed that they were significantly more likely to develop painful sickle crises during the test. About 38% of those receiving the drug had sickle crises, compared with 8% of those receiving a placebo. No deaths were observed.

Because the complications observed in the trial were specific to sickle cell patients, researchers said there is no risk to others using the drug for pulmonary hypertension. The agency recommended that physicians treating sickle cell patients off-label with the drug taper it off over a period of three to seven days to avoid problems associated with abrupt withdrawal.

-- Thomas H. Maugh II


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