Individualized Medicine in Gastroenterology and Hepatology.

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 Proc

journal_title

Mayo Clinic proceedings

authors

Stephens MC,Boardman LA,Lazaridis KN

doi

10.1016/j.mayocp.2017.03.002

subject

Has Abstract

pub_date

2017-05-01 00:00:00

pages

810-825

issue

5

eissn

0025-6196

issn

1942-5546

pii

S0025-6196(17)30169-6

journal_volume

92

pub_type

杂志文章,评审
  • Acute pancreatitis in the postpartum period: a population-based case-control study.

    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

    authors: Maringhini A,Lankisch MR,Zinsmeister AR,Melton LJ 3rd,DiMagno EP

    更新日期:2000-04-01 00:00:00

  • Matched comparison of radical nephrectomy vs nephron-sparing surgery in patients with unilateral renal cell carcinoma and a normal contralateral kidney.

    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

    authors: Lau WK,Blute ML,Weaver AL,Torres VE,Zincke H

    更新日期:2000-12-01 00:00:00

  • Eosinophilia associated with perimyositis and pneumonitis.

    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

    authors: Lakhanpal S,Duffy J,Engel AG

    更新日期:1988-01-01 00:00:00

  • Clinical characteristics of fatal pulmonary embolism in a referral hospital.

    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

    authors: Morgenthaler TI,Ryu JH

    更新日期:1995-05-01 00:00:00

  • Increased cancer risks in myotonic dystrophy.

    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

    authors: Win AK,Perattur PG,Pulido JS,Pulido CM,Lindor NM

    更新日期:2012-02-01 00:00:00

  • Public health education and the control of hypertension in the United States.

    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:

    authors: Krishan I

    更新日期:1979-12-01 00:00:00

  • N-Acetylcysteine Rinse for Thick Secretion and Mucositis of Head and Neck Chemoradiotherapy (Alliance MC13C2): A Double-Blind Randomized Clinical Trial.

    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

    authors: Sio TT,Blanchard MJ,Novotny PJ,Patel SH,Rwigema JM,Pederson LD,McGee LA,Gamez ME,Seeger GR,Martenson JA,Grover Y,Neben Wittich MA,Garces YI,Foote RL,Miller RC,Halyard MY

    更新日期:2019-09-01 00:00:00

  • Bedside estimation of risk from percutaneous coronary intervention: the new Mayo Clinic risk scores.

    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

    authors: Singh M,Rihal CS,Lennon RJ,Spertus J,Rumsfeld JS,Holmes DR Jr

    更新日期:2007-06-01 00:00:00

  • High prevalence of vitamin D inadequacy and implications for health.

    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

    authors: Holick MF

    更新日期:2006-03-01 00:00:00

  • Atrioventricular and ventriculoarterial discordance (corrected transposition of the great arteries). Wide-angle two-dimensional echocardiographic assessment of ventricular morphology.

    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:

    authors: Hagler DJ,Tajik AJ,Seward JB,Edwards WD,Mair DD,Ritter DG

    更新日期:1981-10-01 00:00:00

  • The clinical significance of Bence Jones proteinuria.

    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:

    authors: Perry MC,Kyle RA

    更新日期:1975-05-01 00:00:00

  • Aspirin idiosyncrasy in systemic mast cell disease: a new look at mediator release during aspirin desensitization.

    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

    authors: Butterfield JH,Kao PC,Klee GC,Yocum MW

    更新日期:1995-05-01 00:00:00

  • Elevated bone aluminum content in dialysis patients without osteomalacia.

    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

    authors: McCarthy JT,Kurtz SB,McCall JT

    更新日期:1985-05-01 00:00:00

  • Thyroid Status and Death Risk in US Veterans With Chronic Kidney Disease.

    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

    authors: Rhee CM,Kalantar-Zadeh K,Ravel V,Streja E,You AS,Brunelli SM,Nguyen DV,Brent GA,Kovesdy CP

    更新日期:2018-05-01 00:00:00

  • Chest pain in a young woman.

    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

    authors: Click RL,Spittell JA Jr,Puga FJ

    更新日期:1988-04-01 00:00:00

  • Management and prevention of cytomegalovirus infection after renal transplantation.

    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

    authors: Farrugia E,Schwab TR

    更新日期:1992-09-01 00:00:00

  • A multidisciplinary approach to the management of breast cancer, part 1: prevention and diagnosis.

    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

    authors: Pruthi S,Brandt KR,Degnim AC,Goetz MP,Perez EA,Reynolds CA,Schomberg PJ,Dy GK,Ingle JN

    更新日期:2007-08-01 00:00:00

  • Primary signet ring cell carcinoma of the prostate.

    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

    authors: Warner JN,Nakamura LY,Pacelli A,Humphreys MR,Castle EP

    更新日期:2010-12-01 00:00:00

  • Evolving role of the neurologist in the diagnosis and treatment of chronic noncancer pain.

    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

    authors: Jacobson PL,Mann JD

    更新日期:2003-01-01 00:00:00

  • Improved preservation of facial nerve function with use of electrical monitoring during removal of acoustic neuromas.

    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

    authors: Harner SG,Daube JR,Ebersold MJ,Beatty CW

    更新日期:1987-02-01 00:00:00

  • Associations of conference attendance with internal medicine in-training examination scores.

    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

    authors: McDonald FS,Zeger SL,Kolars JC

    更新日期:2008-04-01 00:00:00

  • Evolving era of multidimensional medical imaging.

    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

    authors: Seward JB,Belohlavek M,Kinter TM,Greenleaf JF

    更新日期:1999-04-01 00:00:00

  • Epinephrine-induced QT interval prolongation: a gene-specific paradoxical response in congenital long QT syndrome.

    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

    authors: Ackerman MJ,Khositseth A,Tester DJ,Hejlik JB,Shen WK,Porter CB

    更新日期:2002-05-01 00:00:00

  • Spasm in ectatic coronary arteries.

    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

    authors: Bove AA,Vlietstra RE

    更新日期:1985-12-01 00:00:00

  • Immune thrombocytopenias: tests for platelet antibodies.

    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

    authors: Moore SB,Wick MR,Richardson LM

    更新日期:1984-12-01 00:00:00

  • Assessment of patients who have experienced anaphylaxis: a 3-year survey.

    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

    authors: Yocum MW,Khan DA

    更新日期:1994-01-01 00:00:00

  • Sweet's syndrome: systemic signs and symptoms and associated disorders.

    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

    authors: Fett DL,Gibson LE,Su WP

    更新日期:1995-03-01 00:00:00

  • Telemedicine and the diagnosis of speech and language disorders.

    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

    authors: Duffy JR,Werven GW,Aronson AE

    更新日期:1997-12-01 00:00:00

  • Strategies for improving attendance at medical grand rounds at an academic medical center.

    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

    authors: Mueller PS,Litin SC,Sowden ML,Habermann TM,LaRusso NF

    更新日期:2003-05-01 00:00:00

  • Association of coronary artery calcium and coronary heart disease events in young and elderly participants in the multi-ethnic study of atherosclerosis: a secondary analysis of a prospective, population-based cohort.

    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

    authors: Tota-Maharaj R,Blaha MJ,Blankstein R,Silverman MG,Eng J,Shaw LJ,Blumenthal RS,Budoff MJ,Nasir K

    更新日期:2014-10-01 00:00:00