Genetic testing in clinical practice.

Abstract:

:In the practice of internal medicine, the value of genetic testing in common (mono)genetic diseases such as familial hemochromatosis, hypercholesterolemia, Mediterranean fever, and thrombophilia is limited. The genotype insufficiently predicts the phenotype because of the powerful effects of other modifying genes, environmental influences, and lifestyle factors. Many common diseases, including diabetes mellitus, osteoporosis, and cardiovascular disease, have strong genetic influences but are called complex genetic traits. The underlying genetic factors are currently investigated using new molecular tools such as genome-wide association studies, analyzing up to 500,000 markers in huge numbers of patients. Many new (often unexpected) markers have been identified, and in many instances their functional significance is unknown. Genomic profiles play a rapidly growing role in the field of pharmacogenomics. A number of recently identified pharmacogenomic biomarkers are helpful to predict drug-related toxic effects.

journal_name

Annu Rev Med

authors

Lamberts SW,Uitterlinden AG

doi

10.1146/annurev.med.60.103007.132540

subject

Has Abstract

pub_date

2009-01-01 00:00:00

pages

431-42

eissn

0066-4219

issn

1545-326X

journal_volume

60

pub_type

杂志文章,评审
  • Asthma and airway hyperresponsiveness.

    abstract::Airway hyperresponsiveness to a large number of stimuli is a characteristic of asthma in humans. Various components of the tracheobronchial tree might contribute to this characteristic, such as smooth muscle, the bronchial epithelium, various neurohumoral mechanisms, and the mechanical linkages between the lung parenc...

    journal_title:Annual review of medicine

    pub_type: 杂志文章,评审

    doi:10.1146/annurev.me.42.020191.001035

    authors: Ingram RH Jr

    更新日期:1991-01-01 00:00:00

  • The surgical management of atrial fibrillation.

    abstract::Atrial fibrillation is the most common dysrhythmia encountered in clinical practice. For some patients, satisfactory rate control is not possible by pharmacologic means. This led us to develop a surgical approach to its cure, which in turn has led to a deeper understanding of the electrophysiologic basis of atrial fib...

    journal_title:Annual review of medicine

    pub_type: 杂志文章,评审

    doi:10.1146/annurev.med.48.1.511

    authors: Cox JL,Sundt TM 3rd

    更新日期:1997-01-01 00:00:00

  • Innovations in Ventricular Assist Devices for End-Stage Heart Failure.

    abstract::The number of patients with end-stage heart failure (HF) continues to increase over time, but there has been little change in the availability of organs for cardiac transplantation, intensifying the demand for left ventricular assist devices (LVADs) as a bridge to transplantation. There is also a growing number of pat...

    journal_title:Annual review of medicine

    pub_type: 杂志文章,评审

    doi:10.1146/annurev-med-041217-011015

    authors: Miller RJH,Teuteberg JJ,Hunt SA

    更新日期:2019-01-27 00:00:00

  • Chemokine antagonists as therapeutics: focus on HIV-1.

    abstract::Human immunodeficiency virus type 1 (HIV-1) entry into target cells is a multistep process involving the interaction of viral envelope proteins with cell surface receptors. Binding to CD4 is followed by engagement of specific chemokine receptors (CCR5 or CXCR4), triggering molecular rearrangements in the envelope tran...

    journal_title:Annual review of medicine

    pub_type: 杂志文章,评审

    doi:10.1146/annurev.med.58.080105.102908

    authors: Tsibris AM,Kuritzkes DR

    更新日期:2007-01-01 00:00:00

  • Pharmacogenomics and individualized drug therapy.

    abstract::Pharmacogenetics deals with inherited differences in the response to drugs. The best-recognized examples are genetic polymorphisms of drug-metabolizing enzymes, which affect about 30% of all drugs. Loss of function of thiopurine S-methyltransferase (TPMT) results in severe and life-threatening hematopoietic toxicity i...

    journal_title:Annual review of medicine

    pub_type: 杂志文章,评审

    doi:10.1146/annurev.med.56.082103.104724

    authors: Eichelbaum M,Ingelman-Sundberg M,Evans WE

    更新日期:2006-01-01 00:00:00

  • Imaging of atherosclerosis.

    abstract::It is now well recognized that the atherosclerotic plaques responsible for thrombus formation are not necessarily those that impinge most on the lumen of the vessel. Nevertheless, clinical investigations for atherosclerosis still focus on quantifying the degree of stenosis caused by plaques. Many of the features assoc...

    journal_title:Annual review of medicine

    pub_type: 杂志文章,评审

    doi:10.1146/annurev-med-041709-133809

    authors: Owen DR,Lindsay AC,Choudhury RP,Fayad ZA

    更新日期:2011-01-01 00:00:00

  • Hereditary distal renal tubular acidosis: new understandings.

    abstract::The primary or hereditary form of distal renal tubular acidosis (dRTA), although rare, has received increased attention recently because of dramatic advances in the understanding of its genetic basis. The final regulation of renal acid excretion is effected by various acid/base transporters localized in specialized ce...

    journal_title:Annual review of medicine

    pub_type: 杂志文章,评审

    doi:10.1146/annurev.med.52.1.471

    authors: Batlle D,Ghanekar H,Jain S,Mitra A

    更新日期:2001-01-01 00:00:00

  • CD40 Agonist Antibodies in Cancer Immunotherapy.

    abstract::CD40 is a cell-surface member of the TNF (tumor necrosis factor) receptor superfamily. Upon activation, CD40 can license dendritic cells to promote antitumor T cell activation and re-educate macrophages to destroy tumor stroma. Numerous agonist CD40 antibodies of varying formulations have been evaluated in the clinic ...

    journal_title:Annual review of medicine

    pub_type: 杂志文章,评审

    doi:10.1146/annurev-med-062518-045435

    authors: Vonderheide RH

    更新日期:2020-01-27 00:00:00

  • Cardiovascular effects of tricyclic antidepressants.

    abstract::Overdoses of tricyclic antidepressants (TCAs) leave no doubt that TCA drugs at high concentrations have serious cardiac effects. It has been assumed that, to a lesser extent, these effects will occur at usual therapeutic concentration. Recent prospective, plasma-level-controlled studies have improved our understanding...

    journal_title:Annual review of medicine

    pub_type: 杂志文章,评审

    doi:10.1146/annurev.me.35.020184.002443

    authors: Glassman AH

    更新日期:1984-01-01 00:00:00

  • The diagnosis of diabetes: new international classification and diagnostic criteria.

    abstract::The National Diabetes Data Group and the World Health Organization recently made recommendations concerning the classification of diabetes mellitus and proposed new diagnostic criteria. These recommendations are summarized and their bases elucidated. Certain discrepancies between the recommendations are apparent and t...

    journal_title:Annual review of medicine

    pub_type: 杂志文章,评审

    doi:10.1146/annurev.me.34.020183.001455

    authors: Bennett PH

    更新日期:1983-01-01 00:00:00

  • Emotion recollected in tranquility: lessons learned from the COX-2 saga.

    abstract::Nonsteroidal antinflammatory drugs (NSAIDs) inhibit prostaglandin formation by cyclooxygenases (COX) 1 and 2. NSAIDs selective for inhibition of COX-2 are less likely than traditional drugs to cause serious gastrointestinal adverse effects, but predispose to adverse cardiovascular events, such as heart failure, myocar...

    journal_title:Annual review of medicine

    pub_type: 杂志文章,评审

    doi:10.1146/annurev-med-011209-153129

    authors: Grosser T,Yu Y,Fitzgerald GA

    更新日期:2010-01-01 00:00:00

  • The current management of carcinoma of the head of the pancreas.

    abstract::Carcinoma of the head of the pancreas can be diagnosed and staged effectively by computed tomography (CT) scan and by visceral angiography. If the tumor appears to be resectable, no further studies such as percutaneous biopsy are required. Pancreaticoduodenectomy is the only potentially curable treatment. This operati...

    journal_title:Annual review of medicine

    pub_type: 杂志文章,评审

    doi:10.1146/annurev.med.46.1.361

    authors: Cameron JL

    更新日期:1995-01-01 00:00:00

  • Effect of anesthetic drugs on myocardial performance in man.

    abstract::All potent CNS depressant drugs can depress cardiac function in man in a dose-dependent manner. The dose-effect curve is considerably flatter with several drugs (diethyl ether, cyclopropane, fluroxene, isoflurane, and ketamine), presumably from sympathetic nervous-system activation. Potent analgesics and tranquilizers...

    journal_title:Annual review of medicine

    pub_type: 杂志文章,评审

    doi:10.1146/annurev.me.28.020177.000451

    authors: Merin RG

    更新日期:1977-01-01 00:00:00

  • Genetics of non-insulin-dependent (type-II) diabetes mellitus.

    abstract::Both genetic and environmental factors contribute to the etiology of non-insulin-dependent diabetes. The genetic component is heterogeneous and in some patients is probably complex, involving multiple genes. Specific genetic defects have been identified for rate monogenic forms of NIDDM: maturity-onset diabetes of the...

    journal_title:Annual review of medicine

    pub_type: 杂志文章,评审

    doi:10.1146/annurev.med.47.1.509

    authors: Kahn CR,Vicent D,Doria A

    更新日期:1996-01-01 00:00:00

  • Biological Aspects of Cancer Health Disparities.

    abstract::Racial and ethnic disparities span the continuum of cancer care and are driven by a complex interplay among social, psychosocial, lifestyle, environmental, health system, and biological determinants of health. Research is needed to identify these determinants of cancer health disparities and to develop interventions t...

    journal_title:Annual review of medicine

    pub_type: 杂志文章

    doi:10.1146/annurev-med-070119-120305

    authors: Freedman JA,Al Abo M,Allen TA,Piwarski SA,Wegermann K,Patierno SR

    更新日期:2021-01-27 00:00:00

  • Recent advances in surgery for emphysema.

    abstract::Volume reduction surgery is based on the removal of volume-occupying but nonfunctioning emphysematous lung, which is thought to improve pulmonary elastic recoil. The reduction in thoracic volume may also improve thoracic cage and inspiratory muscle function. In addition, dyspnea is lessened, exercise tolerance is incr...

    journal_title:Annual review of medicine

    pub_type: 杂志文章,评审

    doi:10.1146/annurev.med.48.1.387

    authors: Lefrak SS,Yusen RD,Trulock EP,Pohl MS,Patterson A,Cooper JD

    更新日期:1997-01-01 00:00:00

  • Natural killer cells.

    abstract::Natural killer (NK) cells are a subpopulation of lymphocytes, with azurophilic granules in their cytoplasm, that have spontaneous cytotoxicity against a variety of tumor cells, virus-infected cells, and some normal cells in the bone marrow and thymus. When lymphocytes are cultured in the presence of interleukin 2 (IL ...

    journal_title:Annual review of medicine

    pub_type: 杂志文章,评审

    doi:10.1146/annurev.me.37.020186.002023

    authors: Herberman RB

    更新日期:1986-01-01 00:00:00

  • Abbreviated Magnetic Resonance Imaging (MRI) for Breast Cancer Screening: Rationale, Concept, and Transfer to Clinical Practice.

    abstract::Given the increasing understanding of cancer as a heterogeneous group of diseases, detection methods should offer a sensitivity profile that ensures perfect sensitivity for biologically important cancers while screening out self-limiting pseudocancers. However, mammographic screening is biased toward detection of duct...

    journal_title:Annual review of medicine

    pub_type: 杂志文章,评审

    doi:10.1146/annurev-med-121417-100403

    authors: Kuhl CK

    更新日期:2019-01-27 00:00:00

  • Differential diagnosis and treatment of panic attacks and phobic states.

    abstract::Recent advances in our understanding of and ability to treat panic disorders and various types of phobia have been reviewed. A case of agoraphobia was presented in detail to illustrate clinical issues and serve as a basis for discussing differential diagnosis. The presence or absence of spontaneous panic attacks has c...

    journal_title:Annual review of medicine

    pub_type: 杂志文章,评审

    doi:10.1146/annurev.me.32.020181.003055

    authors: Liebowitz MR,Klein DF

    更新日期:1981-01-01 00:00:00

  • Gonadotropin-releasing hormone and its analogs.

    abstract::GnRH and its analogues have led to exciting new avenues of therapy in virtually every subspecialty of internal medicine as well as in gynecology, pediatrics, and urology. Since their discovery in 1971, it has been demonstrated that GnRH and its analogues enable medical professionals to influence the hypothalamic-pitui...

    journal_title:Annual review of medicine

    pub_type: 杂志文章,评审

    doi:10.1146/annurev.med.45.1.391

    authors: Conn PM,Crowley WF Jr

    更新日期:1994-01-01 00:00:00

  • Neuromodulation techniques for medically refractory chronic pain.

    abstract::Advances in our knowledge of the physiology of pain transmission and modulation have created new surgical options for the control of chronic pain. The pain modulation network can be activated by administration of spinal opiates or by electrical stimulation of the nervous system with transcutaneous, peripheral nerve, s...

    journal_title:Annual review of medicine

    pub_type: 杂志文章,评审

    doi:10.1146/annurev.me.44.020193.001431

    authors: Landau B,Levy RM

    更新日期:1993-01-01 00:00:00

  • Pulmonary complications of general surgery.

    abstract::1. Patients should be divided preoperatively into low- or high-risk categories, depending on their probability of developing postoperative pulmonary complications. The evaluation should include spirometry as well as an assessment of the previously defined risk factors. 2. Patients in a low-risk category need only inst...

    journal_title:Annual review of medicine

    pub_type: 杂志文章,评审

    doi:10.1146/annurev.me.28.020177.001235

    authors: Pierce AK,Robertson J

    更新日期:1977-01-01 00:00:00

  • Apolipoprotein E alleles as risk factors in Alzheimer's disease.

    abstract::Alzheimer's disease (AD) is unique in medicine in that millions of people suffer from what appears to be the same form of disease, and unlike most other late-onset diseases, the genetic etiologies have been well identified. Three early onset forms of AD inherited as autosomal dominant traits account for less than 2% o...

    journal_title:Annual review of medicine

    pub_type: 杂志文章,评审

    doi:10.1146/annurev.med.47.1.387

    authors: Roses AD

    更新日期:1996-01-01 00:00:00

  • Surgical implications of obesity.

    abstract::Obesity is perhaps the most significant public health problem facing the United States today. Obese patients are at increased risk for numerous medical problems, which can adversely affect surgical outcome. However, these risks have not uniformly translated into increased or prohibitive operative morbidity and mortali...

    journal_title:Annual review of medicine

    pub_type: 杂志文章,评审

    doi:10.1146/annurev.med.49.1.215

    authors: Flancbaum L,Choban PS

    更新日期:1998-01-01 00:00:00

  • Pathogenesis of human cystic renal disease.

    abstract::Cystic diseases of the kidney are common, often progressive disorders. The best of several alternative hypotheses to explain their development cites tubular dilation and compression of adjacent tissue. The initiating event may involve focal proliferation of epithelial cells and a consequent increase in the resistance ...

    journal_title:Annual review of medicine

    pub_type: 杂志文章,评审

    doi:10.1146/annurev.me.39.020188.001153

    authors: Gardner KD Jr

    更新日期:1988-01-01 00:00:00

  • Biological and clinical implications of lymphocyte hybridomas: tumor therapy with monoclonal antibodies.

    abstract::Monoclonal antibodies of defined specificity can be produced using hybridoma technology. New attempts are being made to explore the potential of antibody therapy for cancer. Preliminary studies show that problems such as antigenic modulation, circulating free antigen, effector cell shortage, and host anti-mouse immuno...

    journal_title:Annual review of medicine

    pub_type: 杂志文章,评审

    doi:10.1146/annurev.me.34.020183.000543

    authors: Levy R,Miller RA

    更新日期:1983-01-01 00:00:00

  • Clinical Application and Potential of Fecal Microbiota Transplantation.

    abstract::Fecal microbiota transplantation (FMT) is a well-established treatment for recurrent Clostridioides difficile infection. FMT has become a more readily available and useful new treatment option as a result of stool banks. The current state of knowledge indicates that dysbiosis of the gut microbiota is implicated in sev...

    journal_title:Annual review of medicine

    pub_type: 杂志文章,评审

    doi:10.1146/annurev-med-111717-122956

    authors: Ooijevaar RE,Terveer EM,Verspaget HW,Kuijper EJ,Keller JJ

    更新日期:2019-01-27 00:00:00

  • Recent advancements in the treatment of chronic myelogenous leukemia.

    abstract::Chronic myelogenous leukemia (CML) is a clonal hematopoetic stem cell disorder characterized by the Philadelphia chromosome and resultant production of the constitutively activated Bcr-Abl tyrosine kinase. Characterized clinically by marked myeloid proliferation, it invariably terminates in an acute leukemia. Conventi...

    journal_title:Annual review of medicine

    pub_type: 杂志文章,评审

    doi:10.1146/annurev.med.53.082901.103853

    authors: O'Dwyer ME,Mauro MJ,Druker BJ

    更新日期:2002-01-01 00:00:00

  • Collagenous colitis and lymphocytic colitis.

    abstract::Collagenous and lymphocytic colitis are newly recognized causes of chronic watery diarrhea that typically affect middle-aged patients. Although endoscopic studies are normal, inflammatory changes and (in the case of collagenous colitis) collagen deposition occur histologically in the colonic mucosa. The pathogenesis o...

    journal_title:Annual review of medicine

    pub_type: 杂志文章,评审

    doi:10.1146/annurev.med.45.1.105

    authors: Zeroogian JM,Chopra S

    更新日期:1994-01-01 00:00:00

  • The challenge of viral reservoirs in HIV-1 infection.

    abstract::A viral reservoir is a cell type or anatomical site in association with which a replication-competent form of the virus accumulates and persists with more stable kinetic properties than the main pool of actively replicating virus. This article reviews several cell types and anatomical sites proposed as potential reser...

    journal_title:Annual review of medicine

    pub_type: 杂志文章,评审

    doi:10.1146/annurev.med.53.082901.104024

    authors: Blankson JN,Persaud D,Siliciano RF

    更新日期:2002-01-01 00:00:00