0
We're unable to sign you in at this time. Please try again in a few minutes.
Retry
We were able to sign you in, but your subscription(s) could not be found. Please try again in a few minutes.
Retry
There may be a problem with your account. Please contact the AMA Service Center to resolve this issue.
Contact the AMA Service Center:
Telephone: 1 (800) 262-2350 or 1 (312) 670-7827  *   Email: subscriptions@jamanetwork.com
Error Message ......
This Week in JAMA |

This Week in JAMA FREE

JAMA. 2007;298(11):1253. doi:10.1001/jama.298.11.1253.
Text Size: A A A
Published online

CARRIER SCREENING FOR GAUCHER DISEASE

Carrier screening for genetic diseases can prevent severe untreatable disorders; however, the implications of screening for less serious and treatable diseases has not received much attention. In an analysis of carrier screening for Gaucher disease among Ashkenazi Jewish couples in Israel, Zuckerman and colleaguesArticle assessed the scope and process of screening and screening outcomes, including use of prenatal diagnosis and pregnancy terminations. The authors report that among an estimated 28 893 individuals who were screened in an 8-year period, 83 carrier couples were identified. Among 65 couples at risk for offspring with Gaucher disease and interviewed by the authors, prenatal diagnosis was performed in 68 of 90 pregnancies, 16 fetuses with Gaucher disease were identified, and 4 couples chose to terminate the pregnancy. In an editorial, BeutlerArticle discusses phenotypic variability associated with many single-gene diseases and the implications for screening and clinical and personal decision making.

NOCTURNAL VS CONVENTIONAL HEMODIALYSIS

Heart failure and sudden death are common among patients with end-stage renal disease (ESRD). In a randomized trial comparing the effects of frequent (6 times per week) nocturnal hemodialysis vs conventional hemodialysis (3 times per week) on left ventricular mass and quality of life in 52 patients with ESRD, Culleton and colleaguesArticle found that patients who received frequent nocturnal hemodialysis had reductions in left ventricular mass and blood pressure and improvement in some measures of mineral metabolism and quality of life during 6 months of follow-up. In an editorial, KligerArticle discusses the relationship of dialysis dose and duration to patient outcomes and particular challenges in conducting clinical trials involving patients with ESRD.

APOE GENOTYPES, LIPID LEVELS, AND CORONARY RISK

To address possible publication bias in prior assessments of the association of apolipoprotein E (apoE) genotypes with lipid levels and coronary risk, Bennet and colleagues conducted an updated meta-analysis, which specifically focused on large studies with sufficient participants to assess the relationships by genotype frequency, lipid levels, and coronary outcomes. Examining the apoE genotypes in the order ε2/ε2, ε2/ε3, ε2/ε4, ε3/ε3, ε3/ε4, ε4/ε4, the authors found approximately linear relationships of the apoE genotypes with low-density lipoprotein cholesterol levels and coronary risk, a weak inverse association with high-density lipoprotein cholesterol, and a nonlinear relationship with triglycerides. Compared with the most common genotype ε3/ε3, ε2 carriers had a lower risk of coronary heart disease and ε4 carriers had a slightly higher risk.

CLINICIAN'S CORNER

Amiodarone is approved by the US Food and Drug Administration for patients with refractory ventricular arrhythmias, but in practice, amiodarone is one of the most frequently prescribed antiarrhythmic medications in the United States. Vassallo and Trohman conducted a systematic literature review to evaluate and synthesize the evidence regarding the optimal use of amiodarone for various arrhythmias.

A PIECE OF MY MIND

“Like other residents, I had my share of scary as well as exhilarating moments during my first months of internship.” From “Ghosts.”

MEDICAL NEWS & PERSPECTIVES

Hospitals are embracing palliative care, which can be delivered along with curative or life-prolonging therapies, as a way to improve patient satisfaction and reduce the costs of treatment for an aging population with complex health problems.

TECHNOLOGY AND OUTCOMES ASSESSMENT

Elements of an effective technology and outcomes assessment initiative.

SCIENCE AND SOCIETY

Benefits of greater public education and engagement about the nature of science and scientific evidence.

AUTHOR IN THE ROOM TELECONFERENCE

Join Romsai T. Boonyasai, MD, MPH, on October 17 from 2 to 3 PM eastern time to discuss effective teaching of quality improvement concepts. To register, go to http://www.ihi.org/AuthorintheRoom.

AUDIO COMMENTARY

Dr DeAngelis summarizes and comments on this week's issue. Go to http://jama.ama-assn.org/misc/audiocommentary.dtl

JAMA PATIENT PAGE

For your patients: Information about Gaucher disease.

Tables

References

Letters

CME
Meets CME requirements for:
Browse CME for all U.S. States
Accreditation Information
The American Medical Association is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians. The AMA designates this journal-based CME activity for a maximum of 1 AMA PRA Category 1 CreditTM per course. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Physicians who complete the CME course and score at least 80% correct on the quiz are eligible for AMA PRA Category 1 CreditTM.
Note: You must get at least of the answers correct to pass this quiz.
You have not filled in all the answers to complete this quiz
The following questions were not answered:
Sorry, you have unsuccessfully completed this CME quiz with a score of
The following questions were not answered correctly:
Commitment to Change (optional):
Indicate what change(s) you will implement in your practice, if any, based on this CME course.
Your quiz results:
The filled radio buttons indicate your responses. The preferred responses are highlighted
For CME Course: A Proposed Model for Initial Assessment and Management of Acute Heart Failure Syndromes
Indicate what changes(s) you will implement in your practice, if any, based on this CME course.

Multimedia

Some tools below are only available to our subscribers or users with an online account.

Related Content

Customize your page view by dragging & repositioning the boxes below.