Abstract:
:Molecular analysis of normal and abnormal human globin genes and their gene products has recently provided information on the precise genetic events that result in hemoglobinopathies. In the case of structurally abnormal hemoglobins, the following mechanisms can be invoked: single nucleotide base substitutions leading to amino acid replacement or chain termination variants; nucleotide deletions (or additions) leading to deletion and frameshift variants; and nonhomologous crossing over leading to the production of fused globin chains. The molecular basis of the thalassemia syndromes, disorders characterized by absent or decreased synthesis of alpha- or beta-globin chains, is quite heterogeneous. In some cases globin gene deletions have been demonstrated; whereas in others there is probably either a defect in globin gene transcription or a defect in nuclear globin messenger RNA (mRNA) processing, mRNA transport or globin mRNA stability. In one form of beta(0)-thalassemia a nonsense mutation has recently been demonstrated, and other cases are also associated with some as yet undetermined functional abnormality of beta-globin mRNA.
journal_name
Ann Intern Medjournal_title
Annals of internal medicineauthors
Forget BGdoi
10.7326/0003-4819-91-4-605subject
Has Abstractpub_date
1979-10-01 00:00:00pages
605-16issue
4eissn
0003-4819issn
1539-3704journal_volume
91pub_type
杂志文章,评审abstract::The training of physicians for the delivery of primary care is becoming a national priority. The period of residency training is viewed by many as the focal point for educational change to meet this demand. The Residency Program in Social Medicine at Montefiore Hospital and Medical Center was begun in 1970 and offers ...
journal_title:Annals of internal medicine
pub_type: 杂志文章
doi:10.7326/0003-4819-87-3-359
更新日期:1977-09-01 00:00:00
abstract::During the past quarter century, general internal medicine has emerged as a vital discipline. In the realm of patient care, it is the integrating discipline par excellence. Ironically, as general internists face the challenge of integrating advances of dizzying speed and complexity, and as their clinical practice beco...
journal_title:Annals of internal medicine
pub_type: 杂志文章
doi:10.7326/0003-4819-134-10-200105150-00013
更新日期:2001-05-15 00:00:00
abstract::Active-control noninferiority trials are being performed with increasing frequency when standard placebo-controlled trials are considered unethical. Three attributes are optimally required to establish noninferiority: 1) The treatment under consideration exhibits therapeutic noninferiority to the active control; 2) th...
journal_title:Annals of internal medicine
pub_type: 杂志文章
doi:10.7326/0003-4819-145-1-200607040-00011
更新日期:2006-07-04 00:00:00
abstract::Endocarditis is a relatively frequent infection in intravenous drug users. We compared features in the cases of 102 patients with those in intravenous drug users with other causes of fever to identify risk factors predictive of endocarditis. Logistic regression analysis showed cocaine use to be strongly associated wit...
journal_title:Annals of internal medicine
pub_type: 杂志文章
doi:10.7326/0003-4819-106-6-833
更新日期:1987-06-01 00:00:00
abstract:OBJECTIVE:To determine the number and distribution of internists in subspecialty training and compare with data collected since 1976; to determine the distribution of activity of subspecialty fellows; and to focus on hematology and oncology. DESIGN:Repeated mail survey with telephone follow-up. PARTICIPANTS:All direc...
journal_title:Annals of internal medicine
pub_type: 杂志文章
doi:10.7326/0003-4819-114-1-36
更新日期:1991-01-01 00:00:00
abstract:PURPOSE:To review methods of preventing or minimizing the adverse effects associated with the transfusion of passenger leukocytes present in cellular blood components and to define groups of patients who are at risk for adverse effects. DATA SOURCES:English-language articles on transfusion medicine. STUDY SELECTION:O...
journal_title:Annals of internal medicine
pub_type: 杂志文章,评审
doi:10.7326/0003-4819-117-2-151
更新日期:1992-07-15 00:00:00
abstract:BACKGROUND:Weight loss and increased physical exercise reduce the risk for diabetes in people with impaired glucose tolerance. Randomized trial evidence on the effect of these interventions on people without impaired glucose tolerance is lacking. OBJECTIVE:To examine the influence of a comprehensive intervention progr...
journal_title:Annals of internal medicine
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.7326/0003-4819-142-5-200503010-00006
更新日期:2005-03-01 00:00:00
abstract::We isolated a high molecular weight antigen of the Legionnaires' disease (LD) bacterium by column chromatography. The antigen was composed of 35% carbohydrate, 2.6% protein, 1.8% phospholipid, and 1% 2-keto-3-deoxyoctonate and was important in the host's antibody response because it inhibited the indirect immunofluore...
journal_title:Annals of internal medicine
pub_type: 杂志文章
doi:10.7326/0003-4819-90-4-638
更新日期:1979-04-01 00:00:00
abstract::We developed a model to project morbidity, mortality, and costs attributable to type A influenza virus infections in nursing homes and to evaluate the relative benefits and costs of programs for prevention and control. Influenza vaccination was the most cost-effective intervention under various simulations in the mode...
journal_title:Annals of internal medicine
pub_type: 杂志文章
doi:10.7326/0003-4819-107-5-732
更新日期:1987-11-01 00:00:00
abstract:BACKGROUND:Persons with abdominal aortic aneurysm are more likely to have a higher prevalence of risk factors for and clinical manifestations of cardiovascular disease. It is unknown whether these factors explain the high mortality rate associated with abdominal aortic aneurysm. OBJECTIVE:To describe the risk for mort...
journal_title:Annals of internal medicine
pub_type: 杂志文章
doi:10.7326/0003-4819-134-3-200102060-00008
更新日期:2001-02-06 00:00:00
abstract:BACKGROUND:Despite extensive literature, the diagnostic role of d-dimer for deep venous thrombosis (DVT) or pulmonary embolism (PE) remains unclear, reflecting multiple d-dimer assays and concerns about differing sensitivities and variability. PURPOSE:To systematically review trials that assessed sensitivity, specific...
journal_title:Annals of internal medicine
pub_type: 杂志文章,meta分析,评审
doi:10.7326/0003-4819-140-8-200404200-00005
更新日期:2004-04-20 00:00:00
abstract::Physicians are often asked to make prognostic assessments but often worry that their assessments will prove inaccurate. Prognostic systems were developed to enhance the accuracy of such assessments. This paper describes an approach for evaluating prognostic systems based on the accuracy (calibration and discrimination...
journal_title:Annals of internal medicine
pub_type: 杂志文章
doi:10.7326/0003-4819-130-6-199903160-00016
更新日期:1999-03-16 00:00:00
abstract::Antimicrobial prophylaxis prevents recurrent urinary tract infections in susceptible women, but its cost effectiveness has not been studied. In a recent placebo-controlled trial of urinary prophylaxis, we also assessed cost effectiveness using a decision analysis model. In our hospital the direct cost of 1 patient yea...
journal_title:Annals of internal medicine
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.7326/0003-4819-94-2-251
更新日期:1981-02-01 00:00:00
abstract:Background:Iron chelation therapy (ICT) in patients with lower-risk myelodysplastic syndromes (MDS) has not been evaluated in randomized studies. Objective:To evaluate event-free survival (EFS) and safety of ICT in iron-overloaded patients with low- or intermediate-1-risk MDS. Design:Multicenter, randomized, double-b...
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/M19-0916
更新日期:2020-04-21 00:00:00
abstract::To characterize the role of cardiac function in septic shock, serial radionuclide cineangiographic and hemodynamic evaluations were done on 20 patients with documented septic shock. Although all patients had a normal or elevated cardiac index, 10 patients had moderate to severe depression of their ejection fraction wi...
journal_title:Annals of internal medicine
pub_type: 杂志文章
doi:10.7326/0003-4819-100-4-483
更新日期:1984-04-01 00:00:00
abstract::We compared the effects of quinidine and three alternate antiarrhythmic drugs on serum digoxin concentration in 63 patients before and during administration of quinidine, procainamide, disopyramide, or mexiletine. Quinidine increased digoxin concentration by at least 0.5 nmol/L in 21 of 22 patients: Mean serum digoxin...
journal_title:Annals of internal medicine
pub_type: 杂志文章
doi:10.7326/0003-4819-92-5-605
更新日期:1980-05-01 00:00:00
abstract:BACKGROUND:Antioxidant vitamins are thought to play a role in atherosclerosis. Supplementation of these nutrients has been explored as a means of reducing cardiovascular morbidity and mortality. PURPOSE:To assess the evidence of the effectiveness of vitamin supplementation, specifically vitamins A, C, and E; beta-caro...
journal_title:Annals of internal medicine
pub_type: 杂志文章,评审
doi:10.7326/0003-4819-139-1-200307010-00014
更新日期:2003-07-01 00:00:00
abstract:BACKGROUND:Staphylococcus aureus is a common cause of serious infection in patients infected with HIV. OBJECTIVES:To evaluate risk factors for and quantitative effect of S. aureus infection in HIV-infected patients, with special attention to nasal carriage. DESIGN:Prospective, multihospital cohort study. SETTING:Thr...
journal_title:Annals of internal medicine
pub_type: 杂志文章
doi:10.7326/0003-4819-130-3-199902020-00026
更新日期:1999-02-02 00:00:00
abstract:STUDY OBJECTIVE:To describe the clinical and epidemiologic features of Vibrio vulnificus infections. DESIGN:Case series based on notifiable disease report forms and patient medical records. SETTING:Cases reported to the Florida Department of Health and Rehabilitative Services from 1981 to 1987. PATIENTS:Sixty-two pa...
journal_title:Annals of internal medicine
pub_type: 杂志文章
doi:10.7326/0003-4819-109-4-318
更新日期:1988-08-15 00:00:00
abstract::The indications for treating patients with subclinical hypothyroidism (normal serum thyroxine and free thyroxine levels, but elevated serum thyrotrophin levels) are poorly defined. In this study, 33 patients with subclinical hypothyroidism were randomly assigned in a double-blind manner to receive placebo or L-thyroxi...
journal_title:Annals of internal medicine
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.7326/0003-4819-101-1-18
更新日期:1984-07-01 00:00:00
abstract:BACKGROUND:Markers are needed for assessing response to antiretroviral therapy over time. The CD4+ lymphocyte count is one such surrogate, but it is relatively weak. OBJECTIVE:To assess the association of changes in plasma human immunodeficiency virus (HIV) RNA level and CD4+ lymphocyte count with progression to the a...
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:10.7326/0003-4819-126-12-199706150-00002
更新日期:1997-06-15 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:Background:More than half of enrollees in the U.S. Department of Veterans Affairs (VA) are also covered by Medicare and can choose to receive their prescriptions from VA or from Medicare-participating providers. Such dual-system care may lead to unsafe opioid use if providers in these 2 systems do not coordinate care o...
journal_title:Annals of internal medicine
pub_type: 杂志文章
doi:10.7326/M18-2574
更新日期:2019-04-02 00:00:00
abstract:BACKGROUND:Exercise stress testing in patients with abdominal aortic aneurysms may cause enlargement or rupture of aneurysms. OBJECTIVE:To evaluate the safety of treadmill exercise stress testing in patients with abdominal aortic aneurysms. DESIGN:Retrospective descriptive study. SETTING:Tertiary care center. PATIE...
journal_title:Annals of internal medicine
pub_type: 杂志文章
doi:10.7326/0003-4819-129-8-199810150-00008
更新日期:1998-10-15 00:00:00
abstract::Doxorubicin (Adriamycin) was administered by continuous infusion to reduce peak plasma levels and thus lessen cardiac toxicity. Cardiotoxicity was monitored by noninvasive methods, and endomyocardial biopsy specimens were studied by electronmicroscopy. Cardiotoxicity was compared in 21 patients receiving doxorubicin i...
journal_title:Annals of internal medicine
pub_type: 杂志文章
doi:10.7326/0003-4819-96-2-133
更新日期:1982-02-01 00:00:00
abstract:OBJECTIVE:To determine whether a cytogenetic response after interferon-alpha therapy in patients with chronic myelogenous leukemia is independently associated with improved survival. DESIGN:Retrospective analysis. PATIENTS:274 patients with a diagnosis of Philadelphia chromosome-positive chronic myelogenous leukemia ...
journal_title:Annals of internal medicine
pub_type: 杂志文章
doi:10.7326/0003-4819-122-4-199502150-00003
更新日期:1995-02-15 00:00:00
abstract::A patient with familial Mediterranean fever and amyloidosis who received a cadaver renal transplant 6 1/2 years ago was studied to determine the relation of the serum precursor of secondary amyloid (SAA) to the clinical course and to the deposition of amyloid in the transplant. Amyloid fibrils extracted from the patie...
journal_title:Annals of internal medicine
pub_type: 杂志文章
doi:10.7326/0003-4819-87-1-31
更新日期:1977-07-01 00:00:00
abstract:BACKGROUND:Angiotensin-converting enzyme (ACE) inhibitors slow renal disease progression and reduce cardiac morbidity and mortality in patients with diabetes. Patients' out-of-pocket costs pose a barrier to using this effective therapy. OBJECTIVE:To estimate the cost-effectiveness to Medicare of first-dollar coverage ...
journal_title:Annals of internal medicine
pub_type: 杂志文章
doi:10.7326/0003-4819-143-2-200507190-00007
更新日期:2005-07-19 00:00:00
abstract::Two patients referred for cancer chemotherapy were found to be chronic, asymptomatic hepatitis B surface antigen (HBsAg) carriers. They had normal serum aminotransferase levels, but their sera were positive for HGsAg and antibody to hepatitis B e antigen. Both patients developed acute, icteric hepatitis within 3 month...
journal_title:Annals of internal medicine
pub_type: 杂志文章
doi:10.7326/0003-4819-96-4-447
更新日期:1982-04-01 00:00:00
abstract::Prothrombin complex concentrates are used in the treatment of the congenital bleeding disorders associated with Factors II, VII, IX, and X deficiencies. They have also been extensively used to treat acquired coagulation abnormalities secondary to vitamin K deficiency, warfarin ingestion, and various types of liver dis...
journal_title:Annals of internal medicine
pub_type: 杂志文章
doi:10.7326/0003-4819-84-6-683
更新日期:1976-06-01 00:00:00