Abstract:
:Disorders determined wholly or in part by genetic factors constitute a substantial number of human diseases. This realization has grown during the past 2 decades with the recognition of many specific heritable conditions and the identification of familial risk factors for common disorders. New technologies, such as fetal visualization, chorionic villus sampling, molecular cloning methods, and gene transfer technology, provides a framework for dealing with genetically determined illness in unprecedented ways. Several current and potential applications of these methods are examined, as is the use of restriction fragment length polymorphisms to survey the variability within the genome and to generate markers permitting the prospective detection of genetic disorders. The promise and limitations of chorionic villus biopsy sampling are considered for early prenatal diagnosis. The future of gene therapy in hereditary diseases is examined, and some of the substantial social and ethical considerations engendered by these new developments are explored.
journal_name
Ann Intern Medjournal_title
Annals of internal medicineauthors
Shapiro LJ,Comings DE,Jones OW,Rimoin DLdoi
10.7326/0003-4819-104-4-527subject
Has Abstractpub_date
1986-04-01 00:00:00pages
527-39issue
4eissn
0003-4819issn
1539-3704journal_volume
104pub_type
临床试验,杂志文章,评审abstract::Patients with variant angina refractory to medical therapy pose a difficult management problem. We report two patients with variant angina who had focal spasm in coronary arteries with fixed obstructions of less than 20% of the luminal diameter. Ischemic episodes were accompanied by malignant ventricular arrhythmias a...
journal_title:Annals of internal medicine
pub_type: 杂志文章
doi:10.7326/0003-4819-94-6-771
更新日期:1981-06-01 00:00:00
abstract:BACKGROUND:Mounting evidence indicates that subclinical thyroid dysfunction has important clinical effects and prognostic implications, supporting the view that it is not a compensated biochemical change sensu strictu. PURPOSE:To review clinical information on the effects of subclinical thyroid dysfunction on the hear...
journal_title:Annals of internal medicine
pub_type: 杂志文章,评审
doi:10.7326/0003-4819-137-11-200212030-00011
更新日期:2002-12-03 00:00:00
abstract:BACKGROUND:New tests, such as magnetic resonance imaging (MRI) and electron-beam computed tomography (CT), are being developed for the diagnosis of coronary artery disease. OBJECTIVE:To determine the conditions that a new test must meet to be a cost-effective alternative to established imaging tests. DESIGN:Decision ...
journal_title:Annals of internal medicine
pub_type: 杂志文章,meta分析
doi:10.7326/0003-4819-131-9-199911020-00008
更新日期:1999-11-02 00:00:00
abstract:OBJECTIVE:To determine in female tennis and squash players the effect of biological age (that is, the starting age of playing relative to the age at menarche) at which tennis or squash playing was started on the difference in bone mineral content between the playing and non-playing arms. DESIGN:Cross-sectional study. ...
journal_title:Annals of internal medicine
pub_type: 杂志文章
doi:10.7326/0003-4819-123-1-199507010-00003
更新日期:1995-07-01 00:00:00
abstract::The pursuit of the ideal tumor marker has generated many tests for use in the diagnosis and management of cancer, several of which are now widely available. Tumor markers have five potential uses in patient care: They can be used for screening, for diagnosis, for establishing prognosis, for monitoring treatment, and f...
journal_title:Annals of internal medicine
pub_type: 杂志文章,评审
doi:10.7326/0003-4819-115-8-623
更新日期:1991-10-15 00:00:00
abstract:Background:Whether statin type influences hepatocellular carcinoma (HCC) incidence or mortality in chronic hepatitis B or C virus infection is unknown. Objective:To assess the relationship between lipophilic or hydrophilic statin use and HCC incidence and mortality in a nationwide population with viral hepatitis. Des...
journal_title:Annals of internal medicine
pub_type: 杂志文章
doi:10.7326/M18-2753
更新日期:2019-09-03 00:00:00
abstract:PURPOSE:To review clinical scenarios in which nonelectrophysiologist physicians may interact with patients who have implantable defibrillators. DATA SOURCES:Peer-reviewed original articles and reviews addressing aspects of implantable defibrillator therapy that are relevant to the clinician. DATA SYNTHESIS:The capaci...
journal_title:Annals of internal medicine
pub_type: 杂志文章,评审
doi:10.7326/0003-4819-122-10-199505150-00007
更新日期:1995-05-15 00:00:00
abstract::The diagnosis of gout depends on showing urate crystals in synovial effusions or, with less certainty, recognizing a characteristic clinical presentation. The management of gout has four phases: control of inflammation, diagnostic evaluation, education of the patient, and treatment for the hyperuricemia. Sound logical...
journal_title:Annals of internal medicine
pub_type: 杂志文章
doi:10.7326/0003-4819-90-5-812
更新日期:1979-05-01 00:00:00
abstract::The content, role, and purpose of internal medicine, organized as an American specialty 100 years ago, have been marked by ambivalence from the beginning. Nevertheless, molded to a large extent by external events, including the strategic and symbolic importance of surgery in American medicine, the rise of university m...
journal_title:Annals of internal medicine
pub_type: 历史文章,杂志文章
doi:10.7326/0003-4819-105-4-592
更新日期:1986-10-01 00:00:00
abstract::Recent studies have indicated that outcomes in patients with atrial fibrillation who are managed with rate control and anticoagulation are similar to those in patients who have maintenance of sinus rhythm. These studies did not include important groups of patients with atrial fibrillation in whom antiarrhythmic therap...
journal_title:Annals of internal medicine
pub_type: 杂志文章
doi:10.7326/0003-4819-141-9-200411020-00015
更新日期:2004-11-02 00:00:00
abstract:BACKGROUND:Pulmonary embolism is a common clinical disorder that is associated with high morbidity and mortality if untreated. It is important to confirm or rule out the diagnosis in patients with clinical suspicion of the disease. PURPOSE:To evaluate various diagnostic strategies for excluding pulmonary embolism. DA...
journal_title:Annals of internal medicine
pub_type: 杂志文章,评审
doi:10.7326/0003-4819-138-12-200306170-00005
更新日期:2003-06-17 00:00:00
abstract:BACKGROUND:3-Hydroxy-3-methylglutaryl coenzyme A reductase inhibitor (statin) therapy has proven efficacy in reducing the rate of coronary and cerebrovascular events in patients 75 years of age or younger with a history of myocardial infarction. However, in patients older than 75 years of age, the efficacy and potentia...
journal_title:Annals of internal medicine
pub_type: 杂志文章
doi:10.7326/0003-4819-132-10-200005160-00003
更新日期:2000-05-16 00:00:00
abstract:BACKGROUND:No effective oral therapy exists for early coronavirus disease 2019 (COVID-19). OBJECTIVE:To investigate whether hydroxychloroquine could reduce COVID-19 severity in adult outpatients. DESIGN:Randomized, double-blind, placebo-controlled trial conducted from 22 March through 20 May 2020. (ClinicalTrials.gov...
journal_title:Annals of internal medicine
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.7326/M20-4207
更新日期:2020-10-20 00:00:00
abstract::The sharp rise in drug abuse in the past decade has led to the development of new sources of information on drug-abuse trends. These include surveys, drug-related emergencies, drug-abuse treatment, hepatitis rates, and various types of law enforcement information. This paper summarizes data currently available for her...
journal_title:Annals of internal medicine
pub_type: 杂志文章
doi:10.7326/0003-4819-83-3-402
更新日期:1975-09-01 00:00:00
abstract:BACKGROUND:Patients with reduced left ventricular function and ventricular enlargement after myocardial infarction are at significantly greater risk for congestive heart failure and death. Nevertheless, recovery of ventricular function occurs in a significant proportion of patients after myocardial infarction, and mode...
journal_title:Annals of internal medicine
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.7326/0003-4819-134-6-200103200-00009
更新日期:2001-03-20 00:00:00
abstract:BACKGROUND:Each year, millions of patients worldwide have a perioperative myocardial infarction (MI) after noncardiac surgery. OBJECTIVE:To examine the characteristics and short-term outcome of perioperative MI. DESIGN:Cohort study. (ClinicalTrials.gov registration number: NCT00182039) SETTING:190 centers in 23 coun...
journal_title:Annals of internal medicine
pub_type: 杂志文章,多中心研究
doi:10.7326/0003-4819-154-8-201104190-00003
更新日期:2011-04-19 00:00:00
abstract:Background:Medicare uses the Centers for Medicare & Medicaid Services Hierarchical Condition Category (CMS-HCC) model to predict patients' annualized Medicare costs in value-based payment programs. The CMS-HCC model does not include measures of frailty, and prior research shows that it systematically underpredicts cost...
journal_title:Annals of internal medicine
pub_type: 杂志文章
doi:10.7326/M19-3261
更新日期:2020-04-21 00:00:00
abstract::Effective health care is a core determinant of successful aging, and medications are one of the most important therapeutic tools of health care providers. Most older adults use at least one prescription drug. Costs for these drugs are a substantial out-of-pocket expense for Medicare beneficiaries, and low-income older...
journal_title:Annals of internal medicine
pub_type: 杂志文章,评审
doi:10.7326/0003-4819-139-5_part_2-200309021-00009
更新日期:2003-09-02 00:00:00
abstract:BACKGROUND:Medicare's value-based purchasing (VBP) and the Hospital Readmissions Reduction Program (HRRP) could disproportionately affect safety-net hospitals. OBJECTIVE:To determine whether safety-net hospitals incur larger financial penalties than other hospitals under VBP and HRRP. DESIGN:Cross-sectional analysis....
journal_title:Annals of internal medicine
pub_type: 杂志文章
doi:10.7326/M14-2813
更新日期:2015-09-15 00:00:00
abstract::Young adults with cystic fibrosis have lower blood pressures than control subjects of similar age and sex. The low blood pressure may be related to the excessive loss of salt in the sweat of these patients. A beneficial effect of the cystic fibrosis gene may be protection against developing hypertension in both the ho...
journal_title:Annals of internal medicine
pub_type: 杂志文章
doi:10.7326/0003-4819-82-6-806
更新日期:1975-06-01 00:00:00
abstract::The data from population-based, randomized trials of the mammographic screening of women aged 40 to 49 years are limited by retrospective subgroup analysis, low statistical power, and the use of older mammographic techniques. Nonetheless, meta-analysis involving the most recently reported data from all similarly desig...
journal_title:Annals of internal medicine
pub_type: 杂志文章,评审
doi:10.7326/0003-4819-122-7-199504010-00010
更新日期:1995-04-01 00:00:00
abstract::Two kindreds affected by maturity-onset type of hyperglycemia in young people were studied. The postglucose-load hyperglycemia segregated as an autosomal dominant trait; it was always mild, never requiring insulin, and generally seemed to start in the first two decades of life. Glucose, insulin, glucagon, and growth h...
journal_title:Annals of internal medicine
pub_type: 杂志文章
doi:10.7326/0003-4819-88-5-595
更新日期:1978-05-01 00:00:00
abstract::Women comprise more than one third of the active physician workforce, an estimated 46% of all physicians-in-training, and more than half of all medical students in the United States. Although progress has been made toward gender diversity in the physician workforce, disparities in compensation exist and inequities hav...
journal_title:Annals of internal medicine
pub_type: 指南,杂志文章
doi:10.7326/M17-3438
更新日期:2018-05-15 00:00:00
abstract:BACKGROUND:The Joint United Nations Programme on HIV/AIDS (UNAIDS) 90-90-90 global treatment target aims to achieve 73% virologic suppression among HIV-infected persons worldwide by 2020. OBJECTIVE:To estimate the clinical and economic value of reaching this ambitious goal in South Africa, by using a microsimulation m...
journal_title:Annals of internal medicine
pub_type: 杂志文章
doi:10.7326/M16-0799
更新日期:2016-09-06 00:00:00
abstract:BACKGROUND:Changes in federal health policy are providing more access to medical care for persons with chronic disease. Providing quality care may require a team approach, which the American College of Physicians calls the "medical home." One new model may involve nurse-managed protocols. PURPOSE:To determine whether ...
journal_title:Annals of internal medicine
pub_type: 杂志文章,meta分析
doi:10.7326/M13-2567
更新日期:2014-07-15 00:00:00
abstract:PURPOSE:To review evidence about thyroxine suppressive therapy in patients with thyroid nodules, including the clinical importance and natural history of nodules and the effects and potential side effects of thyroxine therapy. DATA SOURCES:English-language articles published from 1986 to December 1996 were identified ...
journal_title:Annals of internal medicine
pub_type: 杂志文章,评审
doi:10.7326/0003-4819-128-5-199803010-00008
更新日期:1998-03-01 00:00:00
abstract::Eighty-six patients who required heparin therapy were randomly assigned to receive bovine or porcine heparin. Abnormal concentrations of alanine transaminase and aspartate transaminase developed during treatment in 59.3% and 26.7% of patients, respectively. Patient characteristics that significantly influenced the dev...
journal_title:Annals of internal medicine
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.7326/0003-4819-100-5-646
更新日期:1984-05-01 00:00:00
abstract:BACKGROUND:The magnitude, consistency, and manner of association between sedentary time and outcomes independent of physical activity remain unclear. PURPOSE:To quantify the association between sedentary time and hospitalizations, all-cause mortality, cardiovascular disease, diabetes, and cancer in adults independent ...
journal_title:Annals of internal medicine
pub_type: 杂志文章,meta分析,评审
doi:10.7326/M14-1651
更新日期:2015-01-20 00:00:00
abstract:PURPOSE:To review current management of intractable constipation. DATA SOURCES:Original articles and reviews published in the English-language literature between 1965 and 1993 identified by MEDLINE search. Verbal feedback from attendees after presentation of the document as a clinical symposium at the 14th Internation...
journal_title:Annals of internal medicine
pub_type: 杂志文章,评审
doi:10.7326/0003-4819-121-7-199410010-00008
更新日期:1994-10-01 00:00:00
abstract:BACKGROUND:Depression collaborative care implementation using community engagement and planning (CEP) across programs improves 6-month client outcomes in minority communities, compared with technical assistance to individual programs (resources for services [RS]). However, 12-month outcomes are unknown. OBJECTIVE:To c...
journal_title:Annals of internal medicine
pub_type: 杂志文章,随机对照试验
doi:10.7326/M13-3011
更新日期:2014-11-18 00:00:00