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:OBJECTIVE:To determine relationships among pregnancy (during and postpartum), acute pancreatitis, and gallstones. PATIENTS AND METHODS:In this retrospective population-based case-control study, we identified all 12- to 50-year-old Rochester, Minn, females diagnosed between 1976 and 1991 as having acute pancreatitis (c...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章
doi:10.4065/75.4.361
更新日期:2000-04-01 00:00:00
abstract:OBJECTIVE:To report the long-term follow-up of a matched comparison of radical nephrectomy (RN) and nephron-sparing surgery (NSS) in patients with single unilateral renal cell carcinoma (RCC) and a normal contralateral kidney. PATIENTS AND METHODS:Between August 1966 and March 1999, 1492 and 189 patients with unilater...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章
doi:10.4065/75.12.1236
更新日期:2000-12-01 00:00:00
abstract::We describe a patient who had severe myalgias, bronchial asthma, pulmonary infiltrates, and eosinophilia. The findings on physical examination and the erythrocyte sedimentation rate were normal; there was no elevation of the serum creatine kinase. Muscle biopsy demonstrated an inflammatory exudate that contained eosin...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章
doi:10.1016/s0025-6196(12)62663-9
更新日期:1988-01-01 00:00:00
abstract:OBJECTIVE:To determine the clinical characteristics of hospitalized patients who died of pulmonary embolism, confirmed by evaluative autopsy. DESIGN:We retrospectively analyzed a series of autopsy cases of pulmonary embolism at a tertiary-care center for the period Jan. 1, 1985, through Dec. 31, 1989. MATERIAL AND ME...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章
doi:10.4065/70.5.417
更新日期:1995-05-01 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::In recent years, national and regional health education programs have sought to increase public awareness concerning the risks of asymptomatic hypertensive disease. Such programs have fostered community screening and encouraged long-term care. As a result of these intensive educational efforts, larger numbers of perso...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章,评审
doi:
更新日期:1979-12-01 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 derive risk models for percutaneous coronary intervention (PCI) outcomes from clinical and laboratory variables available before the procedure so they can be used for preprocedure risk stratification. PATIENTS AND METHODS:Using the Mayo Clinic registry, we analyzed 9035 PCIs on 7640 unique patients from J...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章
doi:10.4065/82.6.701
更新日期:2007-06-01 00:00:00
abstract::During the past decade, major advances have been made in vitamin D research that transcend the simple concept that vitamin D is Important for the prevention of rickets in children and has little physiologic relevance for adults. Inadequate vitamin D, in addition to causing rickets, prevents children from attaining the...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章,评审
doi:10.4065/81.3.353
更新日期:2006-03-01 00:00:00
abstract::Wide-angle two-dimensional echocardiography was used to establish criteria for recognition of ventricular situs and ventricular morphology in 27 patients (ages 2 month to 58 years) with atrioventricular amd ventriculoarterial discordance (corrected transposition of the great arteries). The morphologic left ventricle w...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章
doi:
更新日期:1981-10-01 00:00:00
abstract::The detection of monoclonal light chains in the urine by the Bence Jones heat test is a useful adjuvant to the diagnosis of myeloma and other related diseases. The test is particularly helpful when no serum spike is noted. Overall, it is positive in approximately half of all patients with myeloma. In order to assess t...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章
doi:
更新日期:1975-05-01 00:00:00
abstract:OBJECTIVE:To report the clinical responses and mediator-release profiles of an aspirin-sensitive man with systemic mast cell disease during aspirin desensitization. MATERIAL AND METHODS:We quantified the release of six mediators during aspirin desensitization. RESULTS:Although aspirin was administered cautiously with...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章
doi:10.4065/70.5.481
更新日期:1995-05-01 00:00:00
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:OBJECTIVE:Given that patients with non-dialysis-dependent chronic kidney disease (NDD-CKD) have a disproportionately higher prevalence of hypothyroidism compared with their non-CKD counterparts, we sought to determine the association between thyroid status, defined by serum thyrotropin (TSH) levels, and mortality among...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章
doi:10.1016/j.mayocp.2018.01.024
更新日期:2018-05-01 00:00:00
abstract::Chest pain in a young person is often caused by chest wall tenderness, associated with mitral valve prolapse, or attributed to psychologic factors. Ischemic cardiac pain may be overlooked because of its rare occurrence in this age group. A 35-year-old woman complained of substernal chest pressure precipitated by exert...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章
doi:10.1016/s0025-6196(12)64859-9
更新日期:1988-04-01 00:00:00
abstract::We reviewed the epidemiologic characteristics, diagnosis, clinical features, and management of cytomegalovirus (CMV) infection after renal transplantation. CMV, the major viral pathogen after renal transplantation, increases patient morbidity and mortality. The spectrum of CMV infection ranges from latent infection to...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章,评审
doi:10.1016/s0025-6196(12)60828-3
更新日期:1992-09-01 00:00:00
abstract::Breast cancer is the most common cancer among women in the United States, with an estimated 200,000 new cases diagnosed annually. A multidisciplinary focus that entails prevention, diagnosis, and treatment has led to significant strides in the reduction of breast cancer incidence and mortality. Additionally, breast ca...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章,评审
doi:10.4065/82.8.999
更新日期:2007-08-01 00:00:00
abstract::Nine patients treated with primary signet ring cell carcinoma of the prostate were identified among 29,783 cases of prostate cancer evaluated at Mayo Clinic from January 15, 1970, until January 2, 2009. A PubMed search of the English-language literature published from January 1, 1980, to January 1, 2010, was then perf...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章,评审
doi:10.4065/mcp.2010.0463
更新日期:2010-12-01 00:00:00
abstract::The neurologist has become increasingly involved in the multidisciplinary treatment of patients with chronic noncancer pain (CNP). Chronic noncancer pain affects a diverse patient population with multiple underlying diagnoses and associated therapies. Following the model of the American Board of Anesthesiology and the...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章,评审
doi:10.4065/78.1.80
更新日期:2003-01-01 00:00:00
abstract::Continuous spontaneous electromyographic activity and responses to electrical stimulation of the facial nerve in the surgical field were monitored in 48 patients undergoing primary removal of an acoustic neuroma. The operative and postoperative results in these patients were compared with the results in 48 patients wh...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章
doi:10.1016/s0025-6196(12)61876-x
更新日期:1987-02-01 00:00:00
abstract:OBJECTIVE:To examine the association of medical knowledge acquisition with attendance at specific conference types during internal medicine residency. PARTICIPANTS AND METHODS:Attendance at residency core curriculum, morbidity and mortality, and medical grand rounds conferences was tracked for 195 residents who took t...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章
doi:10.4065/83.4.449
更新日期:2008-04-01 00:00:00
abstract::Currently, computer-assisted imaging can visualize very fast or very slow nonvisible motion events. We can create measurable geometric representations of physiology, including transformation, blood flow velocity, perfusion, pressure, contractility, image features, electricity, metabolism, and a vast number of other co...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章,评审
doi:10.4065/74.4.399
更新日期:1999-04-01 00:00:00
abstract:OBJECTIVE:To determine the effect of epinephrine on the QT interval in patients with genotyped long QT syndrome (LQTS). PATIENTS AND METHODS:Between May 1999 and April 2001, 37 patients (24 females) with genotyped LQTS (19 LQT1, 15 LQT2, 3 LQT3, mean age, 27 years; range, 10-53 years) from 21 different kindreds and 27...
journal_title:Mayo Clinic proceedings
pub_type: 临床试验,杂志文章
doi:10.4065/77.5.413
更新日期:2002-05-01 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::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:DESIGN:A quality-control retrospective review of medical records was conducted for cases of anaphylaxis encountered at Mayo Clinic Rochester during a 3 1/2-year period. PATIENTS:For inclusion in the study, all patients had to manifest general symptoms of mediator release such as generalized pruritus, urticaria, angioe...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章
doi:10.1016/s0025-6196(12)61606-1
更新日期:1994-01-01 00:00:00
abstract:OBJECTIVE:To characterize the findings associated with acute febrile neutrophilic dermatosis (Sweet's syndrome [SS]) and the response of SS to treatment. DESIGN:We retrospectively reviewed 48 cases of SS encountered at the Mayo Clinic between 1980 and 1992. MATERIAL AND METHODS:Histopathologic specimens and medical r...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章
doi:10.4065/70.3.234
更新日期:1995-03-01 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:OBJECTIVE:To evaluate, in this before-and-after study, the results of 5 strategies for improving attendance at medical grand rounds at a tertiary care academic medical center. METHODS:The strategies included (1) using electronic card readers to improve understanding of attendance patterns, (2) conducting yearly needs ...
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章
doi:10.4065/78.5.549
更新日期:2003-05-01 00:00:00
abstract:OBJECTIVE:To evaluate the association of coronary artery calcium (CAC) and coronary heart disease (CHD) events among young and elderly individuals. PARTICIPANTS AND METHODS:This is a secondary analysis of data from a prospective, multiethnic, population-based cohort study designed to study subclinical atherosclerosis....
journal_title:Mayo Clinic proceedings
pub_type: 杂志文章,多中心研究
doi:10.1016/j.mayocp.2014.05.017
更新日期:2014-10-01 00:00:00