Abstract:
:By identifying structural chromosome anomalies, the clinical cytogenetics laboratory can play a critical role in the diagnosis and treatment of patients with birth defects. Although many new staining techniques have been developed throughout the years to aid in the detection of anomalous chromosomes, some abnormalities still pose a special challenge to cytogeneticists. This difficulty is especially evident in patients with an abnormal chromosome that does not produce a recognizable banding pattern by conventional staining techniques. We describe a recently discovered method of identifying chromosomes by using whole chromosome-specific DNA probes and fluorescent in situ hybridization and provide examples of how this new procedure facilitated the identification of chromosome abnormalities in two patients with multiple birth defects.
journal_name
Mayo Clin Procjournal_title
Mayo Clinic proceedingsauthors
Kraker WJ,Borell TJ,Schad CR,Pennington MJ,Karnes PS,Dewald GW,Jenkins RBdoi
10.1016/s0025-6196(12)60721-6keywords:
subject
Has Abstractpub_date
1992-07-01 00:00:00pages
658-62issue
7eissn
0025-6196issn
1942-5546pii
S0025-6196(12)60721-6journal_volume
67pub_type
杂志文章abstract:OBJECTIVE:To document our evolving surgical management of colonoscopic perforation and examine factors crucial to the improvement of patient care. DESIGN:We conducted a computer-based retrospective analysis of medical records (1980 through 1995). MATERIAL AND METHODS:Among 57,028 colonoscopic procedures performed, 43...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章
doi:10.1016/S0025-6196(11)63592-1
更新日期:1997-08-01 00:00:00
abstract:BACKGROUND:In essential tremor and Parkinson disease (PD) tremor, administration of onabotulinumtoxinA via a fixed injection approach improves the tremor, but many patients (30%-70%) develop moderate to severe hand weakness, limiting the use of onabotulinumtoxinA in clinical practice. OBJECTIVE:To evaluate the safety ...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.mayocp.2017.06.010
更新日期:2017-09-01 00:00:00
abstract:OBJECTIVE:To examine the use of tests that measure ejection fraction (EF) and the use of coronary angiography among patients with an initial diagnosis of heart failure (HF). PATIENTS AND METHODS:All potential cases of incident HF in Olmsted County, Minnesota, between 1979 and 1999 were identifled. In a random sample o...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章,多中心研究
doi:10.4065/81.7.906
更新日期:2006-07-01 00:00:00
abstract:OBJECTIVES:To document the prevalence of use of herbal products among adults in a large metropolitan area and to examine issues surrounding such use. SUBJECTS AND METHODS:Of people aged 18 years and older residing in the Minneapolis/St Paul, Minn, metropolitan area, 752 were randomly selected from Minnesota Department...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章
doi:10.4065/76.7.688
更新日期:2001-07-01 00:00:00
abstract::Clinical guidelines for instituting pharmacotherapy for the primary prevention of atherosclerotic cardiovascular disease (ASCVD), specifically lipid management and aspirin, have long been based on absolute risk. However, lipid management in the current era remains challenging to both patients and clinicians in the set...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章
doi:10.1016/j.mayocp.2017.10.001
更新日期:2017-12-01 00:00:00
abstract:OBJECTIVE:To compare coronary artery bypass grafting (CABG) with percutaneous transluminal coronary angioplasty (PTCA) in patients with proximal, isolated de novo left anterior descending coronary artery disease and left ventricular ejection fraction of 45%. PATIENTS AND METHODS:In the multicenter Stenting vs Internal...
journal_title:Mayo Clinic proceedings
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.4065/75.11.1116
更新日期:2000-11-01 00:00:00
abstract:OBJECTIVE:To compare the efficacy and tolerability of extended-release oxybutynin chloride and tolterodine tartrate at 12 weeks in participants with overactive bladder. SUBJECTS AND METHODS:The OBJECT (Overactive Bladder: Judging Effective Control and Treatment) study was a prospective, randomized, double-blind, paral...
journal_title:Mayo Clinic proceedings
pub_type: 临床试验,杂志文章,随机对照试验
doi:
更新日期:2001-04-01 00:00:00
abstract::Low back pain (LBP) is a leading cause of disability worldwide. In the absence of a classification system for pain syndromes, classification of LBP on the basis of the distribution of pain as axial (pain generally localized to the low back) or radicular neuropathic (pain radiating to the lower extremities) is relevant...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章,评审
doi:10.1016/j.mayocp.2015.10.009
更新日期:2015-12-01 00:00:00
abstract::A need exists for a self-report questionnaire that reliably and accurately measures symptoms and that distinguishes patients with functional gastrointestinal disease from those with other conditions. We have developed such an instrument, the bowel disease questionnaire, and herein describe details of its discriminator...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章
doi:10.1016/s0025-6196(12)62169-7
更新日期:1990-11-01 00:00:00
abstract::Carcinoid tumor of the thymus is a rare neoplasm. Formerly confused with thymoma, a tumor of thymic epithelial cells, carcinoid tumor of the thymus has recently been shown to arise from cells of neuroendocrine origin that are normally present in the thymus. About half of the tumors are either functionally active (usua...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章
doi:
更新日期:1980-04-01 00:00:00
abstract:OBJECTIVE:To explore the transcriptomic differences between patients with hypertrophic cardiomyopathy (HCM) and controls. PATIENTS AND METHODS:RNA was extracted from cardiac tissue flash frozen at therapeutic surgical septal myectomy for 106 patients with HCM and 39 healthy donor hearts. Expression profiling of 37,846...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章
doi:10.1016/j.mayocp.2020.04.028
更新日期:2020-07-01 00:00:00
abstract::Amyotrophic lateral sclerosis is an insidiously developing, adult-onset, progressive anterior horn cell degeneration with associated degeneration of descending motor pathways. It has been recognized as an important clinical syndrome since the middle of the 19th century. Despite increasing clinical and research interes...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章,评审
doi:10.1016/s0025-6196(12)61175-6
更新日期:1991-01-01 00:00:00
abstract:OBJECTIVE:To assess the effect of race on the incidence of aortic stenosis (AS) and utilization and outcomes of aortic valve replacement (AVR). PATIENTS AND METHODS:Patients older than 60 years hospitalized with a primary diagnosis of AS and those who underwent AVR between 2003 and 2014 were included. Adjusted and una...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章
doi:10.1016/j.mayocp.2017.11.026
更新日期:2018-05-01 00:00:00
abstract:OBJECTIVE:To measure carotid artery intima-media thickness (CIMT), a marker of subclinical atherosclerosis, in postmenopausal women with and without histories of preeclampsia and to synthesize these results with those from prior studies of CIMT performed 10 or more years after preeclamptic pregnancies. PATIENTS AND ME...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章
doi:10.1016/j.mayocp.2017.05.030
更新日期:2017-09-01 00:00:00
abstract::Diverticular disease is a common condition that is associated with variable presentations. For this review article, we performed a review of articles in PubMed through February 1, 2016, by using the following MeSH terms: colon diverticula, colonic diverticulitis, colonic diverticulosis, colonic diverticulum, colonic d...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章,评审
doi:10.1016/j.mayocp.2016.03.012
更新日期:2016-08-01 00:00:00
abstract:OBJECTIVES:To determine the prevalence of intra- and extra-articular sacroiliac joint (SIJ) pain, which injection is more beneficial, and whether fluoroscopy improves outcomes. PATIENTS AND METHODS:This patient- and evaluator-blinded comparative effectiveness study randomized 125 participants with SIJ pain from April ...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.mayocp.2018.08.038
更新日期:2019-04-01 00:00:00
abstract:OBJECTIVE:To determine whether a simple clinical score, which was shown previously to predict the likelihood of severe coronary artery disease (CAD) in patients referred for coronary angiography, could predict prognosis in a separate cohort of patients with normal or mildly abnormal findings on their resting electrocar...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章
doi:10.4065/77.6.515
更新日期:2002-06-01 00:00:00
abstract::A patient simulator has been developed for training, certification, modeling, and demonstrating problems in the management of critical-care patients. The Critical Care & Hemodynamic Monitoring Training System consists of a personal computer, software, and a replica of a human torso designed to enable students to pract...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章
doi:10.1016/s0025-6196(12)65158-1
更新日期:1990-07-01 00:00:00
abstract::The monoclonal gammopathies are a group of disorders characterized by proliferation of a single clone of plasma cells that produce a homogeneous, monoclonal (M) protein. The structure of immunoglobulins, relationship of normal (polyclonal) immunoglobulins to myeloma and macroglobulin (monoclonal) immunoglobulins, patt...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章
doi:
更新日期:1978-11-01 00:00:00
abstract::B-cell chronic lymphocytic leukemia (B-CLL) is a relatively indolent hematologic malignant disease that, despite a good response to nonaggressive orally administered chemotherapy, currently remains incurable. The overall median duration of survival is more than 5 years, and the presence of anemia or thrombocytopenia a...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章,评审
doi:10.1016/s0025-6196(12)61551-1
更新日期:1992-04-01 00:00:00
abstract:OBJECTIVE:To summarize results of telemedicine evaluations of speech and language disorders in patients in a small, rural hospital and in large multidisciplinary medical practices. MATERIALS AND METHODS:Eight patients underwent assessment as part of experiments with the National Aeronautics and Space Administration-la...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章
doi:10.4065/72.12.1116
更新日期:1997-12-01 00:00:00
abstract::Although transthoracic two-dimensional echocardiography has been a procedure of choice for diagnosing cardiac mass lesions, the advent of transesophageal echocardiography (TEE) provided better visualization of cardiac structures, especially those at a considerable depth from the chest wall, and lesions that involve th...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章
doi:10.1016/s0025-6196(12)65788-7
更新日期:1991-11-01 00:00:00
abstract::Waldenström macroglobulinemia is a B-cell malignancy with lymphoplasmacytic infiltration in the bone marrow or lymphatic tissue and a monoclonal immunoglobulin M protein (IgM) in the serum. It is incurable with current therapy, and the decision to treat patients as well as the choice of treatment can be complex. Using...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章,评审
doi:10.4065/mcp.2010.0304
更新日期:2010-09-01 00:00:00
abstract:OBJECTIVE:To determine whether N-acetylcysteine rinse was safe and could improve thickened secretions and dry mouth during and after radiotherapy. PATIENTS AND METHODS:We designed a prospective pilot double-blind, placebo-controlled randomized clinical trial (Alliance MC13C2). Adult patients (age ≥18 years) were enrol...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.mayocp.2019.03.031
更新日期:2019-09-01 00:00:00
abstract:OBJECTIVE:To estimate cancer risks for patients with myotonic dystrophy, given that increased risks for neoplasms in association with myotonic dystrophy type 1 and type 2 have been suggested in several studies but the risks of cancers have not been quantified. PATIENTS AND METHODS:A cohort of 307 patients with myotoni...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章
doi:10.1016/j.mayocp.2011.09.005
更新日期:2012-02-01 00:00:00
abstract::The symptoms of progressive dyspnea, hemoptysis, spontaneous pneumothorax, chylous effusions, and cough in conjunction with ventilatory obstruction and abnormal gas exchange in a young woman should prompt the diagnosis of pulmonary lymphangiomyomatosis. Cytosol steroid-receptor assays and postmortem studies were condu...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章
doi:10.1016/s0025-6196(12)60333-4
更新日期:1984-01-01 00:00:00
abstract::Plasma concentration of brain natriuretic peptide (BNP), as measured by the Triage BNP Test, is approved by the Food and Drug Administration to aid in the diagnosis of heart failure. This diagnostic test is available in many institutions. The purpose of this article is to help the physician know the appropriate time t...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章,评审
doi:10.4065/78.4.481
更新日期:2003-04-01 00:00:00
abstract:OBJECTIVE:To comparatively assess the natural history of patients of different ages undergoing transcatheter aortic valve replacement (TAVR). PATIENTS AND METHODS:For this study, we used the YOUNG TAVR, an international, multicenter registry investigating mortality trends up to 2 years in patients with aortic valve st...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章,多中心研究
doi:10.1016/j.mayocp.2019.01.008
更新日期:2019-08-01 00:00:00
abstract::Programmed ventricular stimulation was used effectively in the clinical management of six patients with medically refractory, chronic, recurrent ventricular tachycardia. Critically timed ventricular stimuli reliably terminated episodes of ventricular tachycardia and thus obviated repeated countershocks. Critically tim...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章
doi:
更新日期:1977-11-01 00:00:00
abstract:OBJECTIVE:To estimate the 3-month cumulative incidence of thromboembolism (TE), bleeding, and death among consecutive patients with nonvalvular atrial fibrillation (AF) who were receiving long-term anticoagulation therapy and were referred to the Thrombophilia Center at Mayo Clinic for periprocedural anticoagulation ma...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章
doi:10.4065/83.6.639
更新日期:2008-06-01 00:00:00