JAMA news releases are made available to the public after 3 pm US Central time on the first 4 Tuesdays of each month. The Archives Journals news releases are made available to the public after 3 pm Central time on Mondays. We also provide a list of previous news releases.
THIS WEEK'S CONTENT
JAMA NEWS RELEASES
(Embargoed for Release: 3:00 p.m. CT, Tuesday, September 18, 2007)
JAMA NEWS RELEASES
STUDY EXAMINES IMPLICATIONS OF GENETIC SCREENING FOR CERTAIN DISEASE THAT CAN BE LESS SERIOUS, TREATABLE
PRELIMINARY RESEARCH SUGGESTS FREQUENT HEMODIALYSIS AT NIGHT MAY IMPROVE SOME OUTCOMES FOR PATIENTS WITH END-STAGE KIDNEY DISEASE
ARTICLE ANALYZES RELATIONSHIP OF APOLIPOPROTEIN E GENOTYPES WITH LIPID LEVELS AND CORONARY RISK
JAMA REPORT (VIDEO SCRIPT)
VIDEO: Windows Media | Quicktime
NIGHTTIME, HOME DIALYSIS APPEARS BENEFICIAL FOR KIDNEY FAILURE PATIENTS
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TV Note: This week's JAMA Report video is on the effect of frequent nocturnal hemodialysis compared with conventional hemodialysis. The report will be fed Tuesday, September 18, from 9:00 - 9:30 a.m. ET and 2:00 - 2:30 p.m. ET, on Galaxy 26 (formerly Intelsat America 6) C-Band, Transponder 14, downlink frequency: 3880 vertical, audio 6.2/6.8. For more information, call 312/464-JAMA.
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Embargoed for Release: 3:00 p.m. CT, Tuesday, September 18, 2007
Media Advisory: To contact corresponding author Ephrat Levy-Lahad, M.D., email: lahad{at}szmc.org.il. To contact editorial author Ernest Beutler, M.D., call Lynn Oleski at 858-784-8040.
STUDY EXAMINES IMPLICATIONS OF GENETIC SCREENING FOR CERTAIN DISEASE THAT CAN BE LESS SERIOUS, TREATABLE
CHICAGO—Some couples in Israel whose fetus screened positive for Gaucher disease, which can range from being mild and treatable to being a severe disease, decided to have the pregnancy terminated, raising questions concerning the appropriateness of certain types of genetic screenings, according to a study in the September 19 issue of JAMA.
"Carrier screening can reduce the burden of genetic disease, especially in populations in which specific diseases are common. Although generally performed for severe, untreatable disorders, carrier screening for less serious yet prevalent conditions is also possible, but there is little information on its implications, even though it is likely to become more common," the authors write.
Gaucher disease (GD) includes three diseases that are due to deficient activity of a certain enzyme. Carrier screening for GD is controversial because common type 1 GD is often asymptomatic and is usually not severe or untreatable, and the test performed does not fully predict disease severity. It is relatively frequent in Ashkenazi Jews, who have been offered screening worldwide and in Israel since 1995.
Shachar Zuckerman, M.Sc., of Shaare Zedek Medical Center, Jerusalem, and colleagues assessed various aspects of GD screening in Israel, including its scope, the screening process and outcomes. Ten Israeli genetic centers provided data on the number of individuals screened for GD, the number of carriers identified, the number of carrier couples identified, and the mutations identified in these couples between January 1995 and March 2003. Carrier couples were interviewed via telephone between January 2003 and August 2004.
The researchers found that GD carrier frequency was 5.7 percent and 83 carrier couples were identified among an estimated 28,893 individuals screened. There were 82 couples at risk for offspring with type 1 GD. Seventy of 82 couples (85 percent) were at risk for asymptomatic or mildly affected offspring and 12 of 82 couples (15 percent) were at risk for moderately affected offspring.
Prenatal diagnosis was performed in 76 percent (68 of 90) pregnancies, and terminations were performed in 25 percent (4 of 16) pregnancies of fetuses with GD (2 fetuses predicted to have asymptomatic or mild GD, and 2 fetuses predicted to have moderate GD). There were significantly fewer pregnancy terminations in couples who in addition to genetic counseling had medical counseling with a GD expert (1 of 13 [8 percent] vs. 3 of 3 with no medical counseling [100 percent]).
"With respect to the stated goal of carrier screening programs, the main practical outcome of GD screening was a 66 percent reduction in birth prevalence for moderate type 1 GD, for which the estimated frequency is 1 in 27,000, and a 15 percent reduction in the birth prevalence of asymptomatic or mild type 1 GD for which the estimated frequency is 1 in 1,300. This was achieved through termination of pregnancy of fetuses either treatable or likely to be asymptomatic, and it is debatable whether this represents a true benefit," the authors write.
"Applying the classic carrier screening paradigm to common, low-penetrance disease leads to inevitable dilemmas, and programs offering such screening should determine whether the true goal is knowledge and presymptomatic risk assessment or pregnancy termination of fetuses with a specified genetic status. Our results suggest that to avoid termination of pregnancies for generally mild conditions, even in a highly educated population, screening programs would require a combination of traditional, nondirective genetic counseling with medical counseling by professionals familiar with the specific diseases."
(JAMA. 2007;298(11):1281-1290. Available pre-embargo to the media at www.jamamedia.org)
Editor's Note: Please see the article for additional information, including other authors, author contributions and affiliations, financial disclosures, funding and support, etc.
EDITORIAL: CARRIER SCREENING FOR GAUCHER DISEASE — MORE HARM THAN GOOD?
In an accompanying editorial, Ernest Beutler, M.D., of the Scripps Research Institute, La Jolla, Calif., writes that the issue of carrier screening needs to be examined carefully.
"Attempting to analyze the costs and benefits of a screening program for Gaucher disease is much more complex than doing so for severe, high-penetrance disorders. What is the price for the anguish of parents of a fetus diagnosed to be homozygous for the N370S [GD] genotype? To what extent will the psychological development of a child carrying the stigma of this genotype be impaired? Will his parents protect him unnecessarily and not allow him to participate in contact sports when all his friends are on the team? How many millions of dollars will be spent on unnecessary enzyme replacement therapy for children who are fated never to develop clinical disease? Zuckerman et al point out that the Israeli Medical Geneticists’ Association has recommended against Gaucher disease screening, presumably for these reasons."
"Not until clinicians and researchers better understand the factors that determine whether a patient homozygous for the N370S mutation will develop severe disease or none at all will screening for Gaucher disease become useful. Until then, screening for Gaucher disease will likely do more harm than good."
(JAMA. 2007;298(11):1329-1331. Available pre-embargo to the media at www.jamamedia.org)
Editor's Note: Please see the article for additional information, including financial disclosures, funding and support, etc.
For More Information: Contact the JAMA/Archives Media Relations Department at 312/464-JAMA (5262) or email: mediarelations{at}jama-archives.org.
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Embargoed for Release: 3:00 p.m. CT, Tuesday, September 18, 2007
Media Advisory: To contact Bruce F. Culleton, M.D., M.Sc., call Karen Thomas at 403-220-2431. To contact editorial author Alan S. Kliger, M.D., call Karen Peart at 203-432-1326.
PRELIMINARY RESEARCH SUGGESTS FREQUENT HEMODIALYSIS AT NIGHT MAY IMPROVE SOME OUTCOMES FOR PATIENTS WITH END-STAGE KIDNEY DISEASE
CHICAGO—Patients who received hemodialysis at night six times a week for treatment of end-stage kidney disease had improvements on certain outcomes, including reduced need for blood pressure medications and improvement in selected quality of life measures, compared to patients who received conventional hemodialysis three times weekly, according to an article in the September 19 issue of JAMA.
Despite advances in dialysis and medical therapies, patients with end-stage renal (kidney) disease (ESRD) have annual rates of death that exceed 15 percent. Cardiovascular disease, specifically heart failure or sudden death, is responsible for the majority of deaths, according to background information in the article. Some recent studies have suggested that nocturnal hemodialysis might improve clinical outcomes in ESRD patients.
Bruce F. Culleton, M.D., M.Sc., formerly of the University of Calgary, Alberta, Canada, and colleagues conducted a study to determine the effects of frequent nocturnal hemodialysis compared with conventional hemodialysis on certain outcomes, including left ventricular (LV) mass, health-related quality of life (HRQOL), blood pressure and mineral metabolism. The randomized controlled trial was conducted at two Canadian university centers between August 2004 and December 2006. A total of 52 patients undergoing hemodialysis were recruited. Participants were randomly assigned to receive nocturnal hemodialysis six times weekly or conventional hemodialysis three times weekly.
"Our findings indicate that frequent nocturnal hemodialysis improves LV mass, systemic blood pressure, abnormalities of mineral metabolism, and possibly HRQOL compared with conventional thrice-weekly hemodialysis," the authors write.
LV mass decreased by an average of 13.8 grams in the nocturnal hemodialysis group and increased by 1.5 grams in the conventional hemodialysis group, for a difference of 15.3 grams. Frequent nocturnal hemodialysis was associated with a reduction in or discontinuation of antihypertensive medications (16/26 patients in the nocturnal hemodialysis group vs. 3/25 patients in the conventional hemodialysis group). No benefit in anemia management was seen with nocturnal hemodialysis.
"If it is found that nocturnal hemodialysis has a favorable cost-benefit profile compared with other dialysis therapies, then consideration should be given to expansion of nocturnal hemodialysis centers, specifically for patients who wish to trade a more demanding therapy for less cardiovascular risk and a potential of improved quality of life," the researchers conclude.
(JAMA. 2007;298(11):1291-1299. Available pre-embargo to the media at www.jamamedia.org)
Editor's Note: Please see the article for additional information, including other authors, author contributions and affiliations, financial disclosures, funding and support, etc.
EDITORIAL: FREQUENT NOCTURNAL HEMODIALYSIS — A STEP FORWARD?
In an accompanying editorial, Alan S. Kliger, M.D., of the Hospital of St. Raphael and Yale University, New Haven, Conn., comments on the study examining nocturnal hemodialysis.
"The randomized controlled trial (RCT) by Culleton et al is important for nephrology, clearly demonstrating reduced left ventricular hypertrophy with nocturnal hemodialysis. It would be interesting to see the effect of nocturnal hemodialysis on cardiac structure and function beyond the 6-month study period examined. While future studies may provide additional information, the RCT by Culleton et al suggests that nocturnal hemodialysis may help improve the high morbidity and mortality of North American dialysis patients."
(JAMA. 2007;298(11):1331-1333. Available pre-embargo to the media at www.jamamedia.org)
Editor's Note: Please see the article for additional information, including financial disclosures, funding and support, etc.
For More Information: Contact the JAMA/Archives Media Relations Department at 312/464-JAMA (5262) or email: mediarelations{at}jama-archives.org.
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Embargoed for Release: 3:00 p.m. CT, Tuesday, September 18, 2007
Media Advisory: To contact corresponding author John Danesh, M.Sc., D.Phil., F.R.C.P., email: john.danesh{at}phpc.cam.ac.uk.
ARTICLE ANALYZES RELATIONSHIP OF APOLIPOPROTEIN E GENOTYPES WITH LIPID LEVELS AND CORONARY RISK
CHICAGO—An analysis of previously published studies suggests that there are approximately linear relationships of apolipoprotein E genotypes with lipid levels and with coronary risk, according to a review article in the September 19 issue of JAMA.
Apolipoprotein E (apoE) is a multifunctional protein that plays a key role in the metabolism of cholesterol and triglycerides, according to background information in the article. Some studies have found associations between certain apoE genotypes and lipid levels and coronary risk, but many of those studies were small in size and may be liable to biases.
Anna M. Bennet, Ph.D., of the University of Cambridge, England, and colleagues conducted a review of studies to reassess associations of apoE genotypes with circulating lipid levels and coronary risk. The authors identified 82 studies of lipid levels (86,067 healthy participants) and 121 studies of coronary outcomes (37,850 cases and 82,727 controls), with a focus on studies with at least 1,000 healthy participants for lipids and those with at least 500 coronary outcomes.
The researchers found that in the most extreme comparison, people with the ε2/ε2 genotype had a 31 percent lower average low-density lipoprotein cholesterol (LDL-C) values than those with the ε4/ε4 genotype, "a difference comparable with that produced by ‘statin’ medication," the authors write. "The relationship of apoE genotypes with high-density lipoprotein cholesterol (HDL-C) was shallow and inverse and that with triglycerides was nonlinear and largely confined to the ε2/ε2 genotype, with the latter about 2 times weaker than previously reported."
"We found that, in comparison with the commonest ε3/ε3 genotype, ε2 carriers had a 20 percent reduced coronary risk, in contrast with previous estimates that ε2 carriage is neutral for coronary risk. We noted strong evidence of selective publication in previous estimates based on smaller studies. This is a serious concern given that apoE genotypes and coronary risk had hitherto been considered among the few quantitatively secure associations in cardiovascular disease genetics."
The researchers add that compared with ε3/ε3 individuals, ε4 carriers have a slightly increased risk of coronary disease.
(JAMA. 2007;298(11):1300-1311. Available pre-embargo to the media at www.jamamedia.org)
Editor's Note: Please see the article for additional information, including other authors, author contributions and affiliations, financial disclosures, funding and support, etc.
For More Information: Contact the JAMA/Archives Media Relations Department at 312/464-JAMA (5262) or email: mediarelations{at}jama-archives.org.
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JAMA REPORTS
VIDEO: Windows Media | Quicktime
NIGHTTIME, HOME DIALYSIS APPEARS BENEFICIAL FOR KIDNEY FAILURE PATIENTS
INTRO:
In the U.S., most people with serious kidney disease must go to medical clinics three times a week to receive dialysis. That’s when a machine cleans their blood because their kidneys don’t do the job. But a new preliminary study suggests these patients may benefit from undergoing dialysis at home while they sleep at night. Mavis Prall explains in this week’s JAMA Report.
VIDEO:
B-ROLL
Pan of dialysis clinic
Man receiving dialysis
Blood in machine
GFX/JAMA COVER
AUDIO:
MOST KIDNEY FAILURE PATIENTS MUST COME TO A CLINIC LIKE THIS THREE DAYS A WEEK TO RECEIVE LIFE-SAVING DIALYSIS. BUT A NEW PRELIMINARY STUDY IN JAMA, JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, SAYS THERE MAY BE A BETTER WAY.
VIDEO:
SOT/FULL
@ :15
Super: Bruce Culleton, M.D., M.Sc.
University of Calgary
Runs :06
AUDIO:
“This type of new dialysis is called nocturnal dialysis, and that simply means nighttime dialysis.”
VIDEO:
B-ROLL
Let bite run long through his name
Different doctor in diabetes clinic talking with female patient
Catherine at home preparing tubing for machine, hooking up tubing to machine
Taping tubes to her arm
Programming machine
Patient in dialysis center
AUDIO:
DR. BRUCE CULLETON FROM THE UNIVERSITY OF CALGARY IN CANADA WAS PART OF THE RESEARCH TEAM THAT COMPARED TWENTY-FIVE PATIENTS RECEIVING CONVENTIONAL, IN-CENTER DIALYSIS, TO TWENTY-SIX PATIENTS RECEIVING AT-HOME, NIGHTTIME DIALYSIS, WHERE THE PATIENTS WERE TRAINED TO HOOK THEMSELVES UP TO BEDSIDE MACHINES. THESE PATIENTS HAD EIGHT HOURS OF DIALYSIS FIVE OR SIX NIGHTS A WEEK, AS COMPARED TO ABOUT TWELVE HOURS A WEEK IN-CENTER.
VIDEO:
SOT/FULL
Bruce Culleton, M.D., M.Sc.
University of Calgary
Runs :11
AUDIO:
“This new type of dialysis reduces the negative effects of kidney disease on the heart and in doing so, we believe this reduces the risk for future heart attack, heart failure and sudden death.”
VIDEO:
B-ROLL
Patient(s) in dialysis center
Catherine preparing machine
AUDIO:
AND THERE’S MORE GOOD NEWS. KIDNEY PATIENTS GENERALLY HAVE TO TAKE MANY MEDICATIONS TO CONTROL BLOOD PRESSURE AND OTHER BLOOD PROBLEMS. BUT THE NIGHTTIME DIALYSIS PATIENTS NO LONGER NEEDED TO TAKE SO MANY MEDICATIONS. THEY SAW OTHER BENEFITS AS WELL.
VIDEO:
SOT/FULL
Bruce Culleton, M.D., M.Sc.
University of Calgary
Runs :14
AUDIO:
“Kidney patients are told to restrict their fluid intake on a daily basis, and they’re also told to restrict their fruits as well as their protein, and when you’re on nocturnal dialysis or nighttime dialysis, all those restrictions disappear.”
VIDEO:
SOT/FULL
@ 1:23
Super: Catherine O’Meara
Nighttime dialysis patient
Runs :06
AUDIO:
“I remember the first time I had an orange after not having one for about four years, it was just unbelievable.”
VIDEO:
B-ROLL
Catherine preparing machine
AUDIO:
CATHERINE O’MEARA (oh-MARE-uh) WASN’T IN THE STUDY, BUT SHE USED TO HAVE CONVENTIONAL DIALYSIS, AND HAS BEEN ON NIGHTTIME DIALYSIS FOR THE LAST YEAR.
VIDEO:
SOT/FULL
Catherine O’Meara
Nighttime dialysis patient
Runs :09
AUDIO:
“You have a lot more energy and it frees up your whole day to be able to do whatever you want during the day and you don’t have the same bouts of nausea that you do with the other types of dialysis.”
VIDEO:
B-ROLL
Catherine getting into bed
AUDIO:
CATHERINE HAS THIS ADVICE FOR OTHER DIALYSIS PATIENTS.
VIDEO:
SOT/FULL
Catherine O’Meara
Nighttime dialysis patient
Runs :07
AUDIO:
“Don’t be scared of nocturnal dialysis. I know it’s a big undertaking and there’s a lot you have to learn, but the rewards are great.”
VIDEO:
B-ROLL
Catherine “sleeping” in her bed
AUDIO:
SHE SAYS SHE EVEN GETS BETTER SLEEP WITH THE MACHINE THAN SHE USED TO. THIS IS MAVIS PRALL WITH THE JAMA REPORT.
TAG:
The nighttime dialysis patients got training for about a month before they were set up with home machines, and there were nurses on call twenty-four hours a day throughout the six-month study to answer any questions the patients had. For more information, visit www.jama.com.
