New frontiers in genetic medicine.

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 Med

authors

Shapiro LJ,Comings DE,Jones OW,Rimoin DL

doi

10.7326/0003-4819-104-4-527

subject

Has Abstract

pub_date

1986-04-01 00:00:00

pages

527-39

issue

4

eissn

0003-4819

issn

1539-3704

journal_volume

104

pub_type

临床试验,杂志文章,评审
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    doi:10.7326/0003-4819-94-6-771

    authors: Sussman EJ,Goldberg S,Poll DS,MacVaugh H 3rd,Simson MB,Silber SA,Kastor JA

    更新日期:1981-06-01 00:00:00

  • Effects of subclinical thyroid dysfunction on the heart.

    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...

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    pub_type: 杂志文章,评审

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    authors: Biondi B,Palmieri EA,Lombardi G,Fazio S

    更新日期:2002-12-03 00:00:00

  • Noninvasive imaging for the diagnosis of coronary artery disease: focusing the development of new diagnostic technology.

    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 ...

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    pub_type: 杂志文章,meta分析

    doi:10.7326/0003-4819-131-9-199911020-00008

    authors: Hunink MG,Kuntz KM,Fleischmann KE,Brady TJ

    更新日期:1999-11-02 00:00:00

  • Effect of starting age of physical activity on bone mass in the dominant arm of tennis and squash players.

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    journal_title:Annals of internal medicine

    pub_type: 杂志文章

    doi:10.7326/0003-4819-123-1-199507010-00003

    authors: Kannus P,Haapasalo H,Sankelo M,Sievänen H,Pasanen M,Heinonen A,Oja P,Vuori I

    更新日期:1995-07-01 00:00:00

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    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...

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    pub_type: 杂志文章,评审

    doi:10.7326/0003-4819-115-8-623

    authors: Bates SE

    更新日期:1991-10-15 00:00:00

  • Lipophilic Statins and Risk for Hepatocellular Carcinoma and Death in Patients With Chronic Viral Hepatitis: Results From a Nationwide Swedish Population.

    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

    authors: Simon TG,Duberg AS,Aleman S,Hagstrom H,Nguyen LH,Khalili H,Chung RT,Ludvigsson JF

    更新日期:2019-09-03 00:00:00

  • Implantable cardioverter-defibrillators: implications for the nonelectrophysiologist.

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    pub_type: 杂志文章,评审

    doi:10.7326/0003-4819-122-10-199505150-00007

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    更新日期:1995-05-15 00:00:00

  • Management of gout.

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    journal_title:Annals of internal medicine

    pub_type: 杂志文章

    doi:10.7326/0003-4819-90-5-812

    authors: Simkin PA

    更新日期:1979-05-01 00:00:00

  • Issues for American internal medicine through the last century.

    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

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    更新日期:1986-10-01 00:00:00

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    journal_title:Annals of internal medicine

    pub_type: 杂志文章

    doi:10.7326/0003-4819-141-9-200411020-00015

    authors: Zimetbaum P,Josephson ME

    更新日期:2004-11-02 00:00:00

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    pub_type: 杂志文章,评审

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    authors: Kruip MJ,Leclercq MG,van der Heul C,Prins MH,Büller HR

    更新日期:2003-06-17 00:00:00

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    journal_title:Annals of internal medicine

    pub_type: 杂志文章

    doi:10.7326/0003-4819-132-10-200005160-00003

    authors: Ganz DA,Kuntz KM,Jacobson GA,Avorn J

    更新日期:2000-05-16 00:00:00

  • Hydroxychloroquine in Nonhospitalized Adults With Early COVID-19 : A Randomized Trial.

    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

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    pub_type: 杂志文章

    doi:10.7326/0003-4819-83-3-402

    authors: Greene MH,Nightingale SL,DuPont RL

    更新日期:1975-09-01 00:00:00

  • Recovery of ventricular function after myocardial infarction in the reperfusion era: the healing and early afterload reducing therapy study.

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    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

    authors: Solomon SD,Glynn RJ,Greaves S,Ajani U,Rouleau JL,Menapace F,Arnold JM,Hennekens C,Pfeffer MA

    更新日期:2001-03-20 00:00:00

  • Characteristics and short-term prognosis of perioperative myocardial infarction in patients undergoing noncardiac surgery: a cohort study.

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    journal_title:Annals of internal medicine

    pub_type: 杂志文章,多中心研究

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    authors: Devereaux PJ,Xavier D,Pogue J,Guyatt G,Sigamani A,Garutti I,Leslie K,Rao-Melacini P,Chrolavicius S,Yang H,Macdonald C,Avezum A,Lanthier L,Hu W,Yusuf S,POISE (PeriOperative ISchemic Evaluation) Investigators.

    更新日期:2011-04-19 00:00:00

  • Relationship of a Claims-Based Frailty Index to Annualized Medicare Costs: A Cohort Study.

    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

    authors: Johnston KJ,Wen H,Joynt Maddox KE

    更新日期:2020-04-21 00:00:00

  • Improving medication use for older adults: an integrated research agenda.

    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

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    authors: Murray MD,Callahan CM

    更新日期:2003-09-02 00:00:00

  • The Financial Effect of Value-Based Purchasing and the Hospital Readmissions Reduction Program on Safety-Net Hospitals in 2014: A Cohort Study.

    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

    authors: Gilman M,Hockenberry JM,Adams EK,Milstein AS,Wilson IB,Becker ER

    更新日期:2015-09-15 00:00:00

  • Low blood pressure in young adults with cystic fibrosis: an effect of chronic salt loss in sweat?

    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

    authors: Lieberman J,Rodbard S

    更新日期:1975-06-01 00:00:00

  • Mammographic screening for women aged 40 to 49 years: the primary care practitioner's dilemma.

    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

    authors: Sickles EA,Kopans DB

    更新日期:1995-04-01 00:00:00

  • Plasma glucose, insulin, glucagon, and growth hormone in kindreds with maturity-onset type of hyperglycemia in young people.

    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

    authors: Barbosa J,Ramsay R,Goetz FC

    更新日期:1978-05-01 00:00:00

  • Achieving Gender Equity in Physician Compensation and Career Advancement: A Position Paper of the American College of Physicians.

    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

    authors: Butkus R,Serchen J,Moyer DV,Bornstein SS,Hingle ST,Health and Public Policy Committee of the American College of Physicians.

    更新日期:2018-05-15 00:00:00

  • The Anticipated Clinical and Economic Effects of 90-90-90 in South Africa.

    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

    authors: Walensky RP,Borre ED,Bekker LG,Resch SC,Hyle EP,Wood R,Weinstein MC,Ciaranello AL,Freedberg KA,Paltiel AD

    更新日期:2016-09-06 00:00:00

  • Effects of nurse-managed protocols in the outpatient management of adults with chronic conditions: a systematic review and meta-analysis.

    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

    authors: Shaw RJ,McDuffie JR,Hendrix CC,Edie A,Lindsey-Davis L,Nagi A,Kosinski AS,Williams JW Jr

    更新日期:2014-07-15 00:00:00

  • Thyroxine suppressive therapy in patients with nodular thyroid disease.

    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

    authors: Gharib H,Mazzaferri EL

    更新日期:1998-03-01 00:00:00

  • Transaminase elevations in patients receiving bovine or porcine heparin.

    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

    authors: Dukes GE Jr,Sanders SW,Russo J Jr,Swenson E,Burnakis TG,Saffle JR,Warden GD

    更新日期:1984-05-01 00:00:00

  • Sedentary time and its association with risk for disease incidence, mortality, and hospitalization in adults: a systematic review and meta-analysis.

    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

    authors: Biswas A,Oh PI,Faulkner GE,Bajaj RR,Silver MA,Mitchell MS,Alter DA

    更新日期:2015-01-20 00:00:00

  • Clinical management of intractable constipation.

    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

    authors: Camilleri M,Thompson WG,Fleshman JW,Pemberton JH

    更新日期:1994-10-01 00:00:00

  • 12-month outcomes of community engagement versus technical assistance to implement depression collaborative care: a partnered, cluster, randomized, comparative effectiveness trial.

    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

    authors: Chung B,Ong M,Ettner SL,Jones F,Gilmore J,McCreary M,Sherbourne C,Ngo V,Koegel P,Tang L,Dixon E,Miranda J,Belin TR,Wells KB

    更新日期:2014-11-18 00:00:00