Abstract：
:After the completion of the Human Genome Project, there has been an acceleration in methodologies on sequencing nucleic acids (DNA and RNA) at a high precision and with ever-decreasing turnaround time and cost. Collectively, these approaches are termed next-generation sequencing and are already affecting the transformation of medical practice. In this symposium article, we highlight the current knowledge of the genetics of selected gastrointestinal tract and liver diseases, namely, inflammatory bowel disease, hereditary cholestatic liver disease, and familial colon cancer syndromes. In addition, we provide a stepwise approach to use next-generation sequencing methodologies for clinical practice with the goal to improve the diagnosis as well as management of and/or therapy of the chosen digestive diseases. This early experience of applying next-generation sequencing in the practice of gastroenterology and hepatology will delineate future best practices in the field, ultimately for the benefit of our patients.
journal_name
Mayo Clin Procjournal_title
Mayo Clinic proceedingsauthors
Stephens MC,Boardman LA,Lazaridis KNdoi
10.1016/j.mayocp.2017.03.002subject
Has Abstractpub_date
2017-05-01 00:00:00pages
810-825issue
5eissn
0025-6196issn
1942-5546pii
S0025-6196(17)30169-6journal_volume
92pub_type
杂志文章,评审abstract：:In almost all dialysis patients, bone aluminum content (BAC) is elevated in comparison with levels in normal subjects. Extremely high BAC (200 micrograms or more of aluminum per gram of bone) is significantly associated with classic aluminum-related osteomalacia. We noted three patients with elevated BAC but without h...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章
doi：10.1016/s0025-6196(12)60539-4
更新日期：1985-05-01 00:00:00
abstract：:A 54-year-old man with no known cardiac disease collapsed outdoors in a small rural community. The cardiac arrest was witnessed, and immediate cardiopulmonary resuscitation was begun by a bystander and a trained first responder who was nearby. The patient was moved into a building across the street for continued resus...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章
doi：10.4065/mcp.2011.0229
更新日期：2011-06-01 00:00:00
abstract：OBJECTIVES:To describe the development and implementation process and assess the effect on self-reported clinical practice changes of a multidisciplinary, collaborative, interactive continuing medical education (CME)/continuing education (CE) program on chronic obstructive pulmonary disease (COPD). METHODS:Multidiscip...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章
doi：10.1016/j.mayocp.2012.02.028
更新日期：2012-09-01 00:00:00
abstract：:Brugada syndrome (BrS) is a common occult cause of sudden cardiac arrest in otherwise healthy-appearing adults. The pathognomonic electrocardiographic pattern may be unmasked only by certain medications, many of which are unknown. We report a case of a depressed but otherwise healthy man with an asymptomatic right bun...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章
doi：10.1016/j.mayocp.2014.08.010
更新日期：2014-11-01 00:00:00
abstract：:Patients with ectatic coronary arteries often have occlusion of the affected arteries. Because ectatic arteries are considered to have medial damage, they are normally assumed to have little capacity to constrict; therefore, spasm has not been considered a factor in the occlusive process. In two patients who had diffu...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章
doi：10.1016/s0025-6196(12)64787-9
更新日期：1985-12-01 00:00:00
abstract：:Between December 1980 and April 1986 at our institution, 38 patients with cancer that involved the tracheobronchial tree (a total of 40 carcinomas) completed at least one course of hematoporphyrin derivative phototherapy. A complete response occurred in 13 patients (with 14 carcinomas). Eleven of these carcinomas did ...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章
doi：10.1016/s0025-6196(12)61520-1
更新日期：1987-01-01 00:00:00
abstract：OBJECTIVE:To evaluate the effects of treatment with fluticasone propionate vs placebo on bone, hypothalamic-pituitary-adrenal (HPA) axis function, and the eyes in patients with asthma. PATIENTS AND METHODS:This randomized, double-blind, placebo-controlled study of 160 patients with asthma who had minimal previous expo...
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：10.4065/79.4.458
更新日期：2004-04-01 00:00:00
abstract：:Total respiratory resistance (Rrs) was studied by the forced oscillation technique at a frequency of 3 cps in 76 normal subjects (36 men, 40 women), ages 21 to 64 years. Slopes (equivalent to specific conductance) assuming a linear relationship with zero intercept between 1/Rrs and thoracic gas volume (TGV) were compu...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章
doi：
更新日期：1976-09-01 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 report a case of eosinophilic myocarditis with remarkable initial clinical manifestations and outcome. MATERIAL AND METHODS:A 67-year-old woman with hypertension and a history of asthma and drug hypersensitivity was referred to our institution with a diagnosis of acute myocardial infarction on the basis o...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章,评审
doi：
更新日期：1997-07-01 00:00:00
abstract：:Mechanical and bioprosthetic mitral prostheses may have many potential complications. In patients with isolated mitral stenosis and a small left ventricular cavity, low-profile prostheses are recommended to avoid myocardial impingement that can result from a high-profile valve and lead to possible left ventricular inf...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章
doi：10.1016/s0025-6196(12)60217-1
更新日期：1985-03-01 00:00:00
abstract：OBJECTIVE:To determine how all-cause hospitalizations within 12 months preceding an index heart failure (HF) hospitalization affect risk stratification for 30-day all-cause readmission. PATIENTS AND METHODS:Early readmission of inpatients with HF is challenging to predict, yet this outcome is used to compare hospital ...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章
doi：10.1016/j.mayocp.2013.12.018
更新日期：2014-05-01 00:00:00
abstract：OBJECTIVE:To describe the differences in clinical characteristics and outcome between adult- and childhood-onset biopsy-proven IgA vasculitis (IgAV) in North America. PATIENTS AND METHODS:Patients with IgAV diagnosed from January 1, 1997, through December 31, 2016, were retrospectively identified. Data were abstracted...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章
doi：10.1016/j.mayocp.2019.04.034
更新日期：2019-09-01 00:00:00
abstract：:Data from animal experiments and human studies implicate added sugars (eg, sucrose and high-fructose corn syrup) in the development of diabetes mellitus and related metabolic derangements that raise cardiovascular (CV) risk. Added fructose in particular (eg, as a constituent of added sucrose or as the main component o...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章,评审
doi：10.1016/j.mayocp.2014.12.019
更新日期：2015-03-01 00:00:00
abstract：:Autonomic failure and proximal skeletal myopathy are rare features of the Sjögren syndrome (SS). We describe a 51-year-old woman with primary SS who had development of esophageal dysmotility, urinary retention, severe orthostatism, and skeletal myopathy during a 3-month period after the diagnosis of SS. Her symptoms a...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章
doi：10.4065/74.7.695
更新日期：1999-07-01 00:00:00
abstract：:Endorectal ultrasonography is a valuable imaging method for examination of the rectum and perirectal tissues. We assessed 50 patients with known rectal carcinoma prospectively by using a 7.0-MHz endorectal transducer to determine the depth of invasion of the rectal wall by tumor and the presence of lymphadenopathy. Tu...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章
doi：10.1016/s0025-6196(12)62192-2
更新日期：1990-12-01 00:00:00
abstract：:Abdominal apoplexy is a clinical entity characterized by spontaneous intraperitoneal hemorrhage from rupture of a visceral vessel. We describe a 34-year-old man who presented with abdominal apoplexy due to rupture of an ileocolic aneurysm. Subsequent biochemical and genetic analysis confirmed the diagnosis of Ehlers-D...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章
doi：10.4065/77.8.861
更新日期：2002-08-01 00:00:00
abstract：OBJECTIVE:To determine the incidence and temporal trends of food allergies. PATIENTS AND METHODS:We performed a historical cohort study to describe the epidemiology of food allergies among residents of all ages in Olmsted County, Minnesota, during a 10-year period from January 2, 2002, through December 31, 2011, using...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章
doi：10.1016/j.mayocp.2018.05.031
更新日期：2018-10-01 00:00:00
abstract：:Effective antituberculous drugs have radically improved the prognosis of the patient with active tuberculosis. Surgical therapy is rarely needed, and sanitoriums have largely vanished. Triple-drug therapy may be indicated initially for cavitary pulmonary disease, meningitis, miliary disease, and moderate to severe ren...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章
doi：
更新日期：1983-04-01 00:00:00
abstract：:Physicians must be able to recognize stroke caused by a mendelian or mitochondrial disorder. Some genetic disorders such as sickle cell anemia and Fabry disease have proven disease-specific treatments, whereas others have no effective treatment, including cerebral autosomal dominant arteriopathy with subcortical infar...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章,评审
doi：10.1016/S0025-6196(11)62969-8
更新日期：2005-01-01 00:00:00
abstract：OBJECTIVE:To identify and assess the impact of postoperative complications in patients with unrecognized or known obstructive sleep apnea syndrome (OSAS) undergoing hip replacement or knee replacement compared with control patients undergoing similar operations. Although OSAS is a risk factor for perioperative morbidit...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章
doi：10.4065/76.9.897
更新日期：2001-09-01 00:00:00
abstract：:The medical records of 293 patients who underwent renal transplantation were analyzed for the occurrence of Streptococcus pneumoniae and Haemophilus influenzae infections in relation to splenectomy. Splenectomy was done in 236 (81%) graft recipients before or concomitant with transplantation. Bacteremia developed in f...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章
doi：
更新日期：1979-02-01 00:00:00
abstract：:In a study of 49 consecutive patients for whom a test for platelet antibodies had been ordered, tests were performed for both cell-bound and serum platelet antibodies. In cases of autoimmune thrombocytopenia (ITP), the test result for cell-bound antibody was more likely to be positive than was the test result for seru...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章
doi：10.1016/s0025-6196(12)65623-7
更新日期：1984-12-01 00:00:00
abstract：OBJECTIVE:To present a multiyear clinical experience with intravenous bevacizumab for the management of severe gastrointestinal bleeding and/or epistaxis in patients with hereditary hemorrhagic telangiectasia (HHT). PATIENTS AND METHODS:All patients treated with intravenous bevacizumab for severe hereditary hemorrhagi...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章
doi：10.1016/j.mayocp.2017.11.013
更新日期：2018-02-01 00:00:00
abstract：:Recent experience with 40 patients with the Zollinger-Ellison syndrome at all Mayo Clinic suggests that traditional clinical criteria for diagnosis are often absent or invalid. Patients are younger have a shorter duration of symptoms, and often present without prior gastric surgery. Clinical, roentgenographic, and end...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章
doi：
更新日期：1978-01-01 00:00:00
abstract：:Multiple regression analysis were used to investigate the relationship between blood pressure and age, sex, relative weight, antihypertensive medication, diabetes mellitus, diet (low-salt, low-cholesterol, and weight-reducing regimens), cigarette smoking, coffee drinking, and aerobic exercise among a stratified random...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章
doi：10.1016/s0025-6196(12)65532-3
更新日期：1988-07-01 00:00:00
abstract：OBJECTIVE:To estimate the incidence of selected systemic autoimmune diseases (SAIDs) in approximately 14,000 male rescue/recovery workers enrolled in the Fire Department of the City of New York (FDNY) World Trade Center (WTC) Health Program and to compare FDNY incidence to rates from demographically similar men in the ...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章
doi：10.1016/j.mayocp.2015.09.019
更新日期：2016-01-01 00:00:00
abstract：OBJECTIVE:To ascertain the incidence and timing of fever in patients at risk for temperature modulation of brain injury resulting from ischemia or trauma. DESIGN:We retrospectively reviewed the medical records of patients admitted between January 1991 and December 1994. MATERIAL AND METHODS:We investigated three grou...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章
doi：10.1016/S0025-6196(11)64885-4
更新日期：1998-07-01 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：:It is now generally accepted that vitamin D deficiency is a worldwide health problem that affects not only musculoskeletal health but also a wide range of acute and chronic diseases. However, there remains cynicism about the lack of randomized controlled trials to support the association studies regarding the nonskele...
journal_title：Mayo Clinic proceedings
pub_type： 杂志文章
doi：10.1016/j.mayocp.2013.05.011
更新日期：2013-07-01 00:00:00
