Abstract：
:There is much variability in the manner individuals respond to drugs, such that the management of some drugs is problematic. In France, the incidence of hospital admissions related to adverse drug reactions is estimated to be 3.2 %, at an annual cost of over 300 millions euros. Genetic factors affecting the pharmacokinetics and pharmacodynamics of drugs partly explain interindividual variability in drug response. Pharmacogenetic focuses on the molecular mechanisms involved in drug response, and its ultimate goal is the optimisation of drug treatments, both in terms of efficacy and safety. Numerous polymorphisms in genes encoding drug-metabolising enzymes, transporters and receptors have been described and their consequences on disposition and effect of a substantial number of medications have been elucidated. This review focuses on variability of drug metabolism and transport to define the objectives of pharmacogenetics, the molecular bases of interindividual variation in drug response and the methods used for the evaluation of the individual risk of drug failure or toxicity. Some clinical applications of pharmacogenetics have already been developed in routine medicine resulting in significant improvement in patient treatment. The clinical validation of an increasing number of pharmacogenetic tests, as well as the development of new highly efficient technologies for genotyping (real-time PCR, DNA chips) should further promote pharmacogenetics in clinical practice and lead to the development of a patient-tailored drug therapy.
journal_name
Ann Biol Clin (Paris)journal_title
Annales de biologie cliniqueauthors
Allorge D,Loriot MAsubject
Has Abstractpub_date
2004-09-01 00:00:00pages
499-511issue
5eissn
0003-3898issn
1950-6112journal_volume
62pub_type
杂志文章,评审abstract：:Urinary protein electrophoresis analysis (UPE) is an essential investigation for the study of abnormal proteins in urines. The interpretation of this analysis must be comprehensive and relevant. Indeed, UPE is often requested by clinicians and may have an important impact in patient's management. This paper presents t...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2016.1200
更新日期：2017-02-01 00:00:00
abstract：:A 58-year-old patient, without any notable medical history, except for alcoholism and treated hypertension, developed anemia and leukopenia with macrocytosis. Folate deficiency was diagnosed and subsequently treated. Despite folate supplementation, the hematological parameters did not normalize. Further diagnosis inve...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2013.0863
更新日期：2013-07-01 00:00:00
abstract：:The relations between chromosomal diseases and mental retardation can be envisaged in three different ways: 1) Pharmacological approach shows a peculiar sensitivity of the cholinergic system in trisomic 21 children. A trouble in the manufacture of cholinergic mediator is plausible. 2) General biochemistry shows a slig...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1978-01-01 00:00:00
abstract：:Hemoglobin Alc is the result of non-enzymatic binding of a glucose molecule at the NH2 terminal of the beta chain. Assay of glycosylated hemoglobin is of great utility for the control efficacity of antidiabetic treatments, since such levels provide the clinician with an excellent index of glucose metabolism over the w...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1981-01-01 00:00:00
abstract：:Diosmin (DI) 3'5,7-trihydroxy-4'-methoxy flavone rutinoside is a member of the flavonoid family, some of whom have antioxidant or free radical scavenger properties. Paw oedema induced by doxorubicin in rats is reduced by DI as observed by SAUVAIRE et al (1989). This suggests a free radical scavenger activity for DI. I...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1994-01-01 00:00:00
abstract：:In vitro fertilization (IVF) and embryo transfer (ET) appear to constitute a revolution in the reproductive sciences rather than merely a new technique in the treatment of sterility. Principle of IVF: IVF accomplishes in vitro the process than normally occurs in the oviduct between the ovulation of oocyte II and embry...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1985-01-01 00:00:00
abstract：:A multiresistant Salmonella typhi (S typhi, strain 302) was isolated from a blood culture of a patient in the Infectious Diseases department of Rabta Hospital in Tunis. The following tests were carried out: antibiotic susceptibility testing by the agar diffusion method; determination of the minimum inhibitory concentr...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1994-01-01 00:00:00
abstract：:Direct oral anticoagulants (DAO), anti-IIa or anti-Xa, are intended to be widely used for the treatment and prevention of thrombotic disorders in venous thromboembolic disease and atrial fibrillation as an alternative of vitamin K antagonists (VKA). Despite predictable pharmacological properties, spontaneous or provok...
journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：10.1684/abc.2015.1110
更新日期：2016-01-01 00:00:00
abstract：:The proliferation of commercial immunoassays for the determination of apolipoproteins AI and B as parameters of risk for coronary heart disease and the discordance between the values obtained with the systems have made more urgent than ever the need for standardization of these assays. The authors report here the resu...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1990-01-01 00:00:00
abstract：:The analyzers have been defined as follows: the analyzers are multiparametric (at least 5 parameters available simultaneously), selective, operating patient by patient, list price on May 1, 1984 below 1,000,000 francs, and distributed in France after January 1, 1981. This definition applies in particular to systems al...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1985-01-01 00:00:00
abstract：:The authors propose a technique of labelling of leukocytes based on the phagocytic power of these cells with regard to sulphide particles in the colloidal state labelled with 90mmTc. These labelled leukocytes maintain their normal function and can be detected in the inflammatory foci created in experimental animals in...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1975-01-01 00:00:00
abstract：:Sixty-three strains of Pseudomonas paucimobilis, a Gram-negative, lemon yellow pigmented, glucose nonfermenting bacillus are phenotypically compared to the type strain of this new species (ATCC 29837). The morphological, cultural, biochemical (ONPG-test, oxidase, aesculin positive) and nutritional (assimilation of man...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1986-01-01 00:00:00
abstract：:The articular cartilage is frequently destroyed in rheumatic diseases. Among the various responsible factors, enzymes and especially collagenases play a leading role. Their action explains the collagen degradation linked with cartilage destruction. The author recalls the origin, mechanism of action of the articular co...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1986-01-01 00:00:00
abstract：:Serum carbohydrate-deficient-transferrin (CDT) was measured by a micro anion-exchange chromatography/enzyme immunoassay. Results obtained on 245 sera analyzed in four laboratories were compared. Moreover, one laboratory used a commercial kit with ready-to-use microcolumns and a radioimmunoassay for measuring eluted CD...
journal_title：Annales de biologie clinique
pub_type： 临床试验,杂志文章,多中心研究
doi：
更新日期：1994-01-01 00:00:00
abstract：:The in vitro activity of the broad-spectrum antifungals miconazole, ketoconazole and itraconazole was evaluated by the decimal dilution method in liquid media, for respectively 2511, 1536 and 1859 strains of yeasts belonging to 31 species. Sabouraud broth was used for miconazole and brain heart infusion broth for keto...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1987-01-01 00:00:00
abstract：:Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired hematopoietic stem cell disorder that must be correctly diagnose because it is a chronic disease with a real impact on the quality of life and the survival of the patients. PNH screening of all patients with anemia or thrombosis is not recommended. We report...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2017.1277
更新日期：2017-10-01 00:00:00
abstract：:Spontaneous red blood cell (RBC) fragmentation occurs in some membrane erythropathies like hereditary elliptocytosis (HE); this phenomenon is produced in normal RBC by heating at 49 degrees C, but not at temperatures below this limit; fragmentation is usually quantified by counting the number of fragments/1000 RBC und...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1992-01-01 00:00:00
abstract：:Evaluation of the neonates for jaundice and kernicterus is indispensable when early hospital discharge has become standard practice. Transcutaneous bilirubin (TcB) measurement is an advantageous option because of its non-invasive nature and the possibility of its use near the patient. The point of care device BiliChec...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：2006-11-01 00:00:00
abstract：:Diagnosis of type III hyperlipoproteinemia requires preparative ultracentrifugation in order to measure the cholesterol/triglyceride molar ratio into isolated d less than 1.006 lipoproteins. The authors describe an ultracentrifugation micromethod which needs 600 microliter of serum and can be completed within three ho...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1979-01-01 00:00:00
abstract：:The aim of the study was to check if a slight and non visible hemolysis to naked eye such as that induced by blood coagulation could interfere in the immunonephelometric measurement of haptoglobin, and if this interference was dependent on the protein phenotype. Results confirmed that blood coagulation induced a non v...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：2004-11-01 00:00:00
abstract：:Among myeloproliferative disorders, Essential Thrombocythaemia is the most frequent and the one associated with the better prognosis. Although median survival is above 15 years, Essential Thrombocythaemia may be complicated by haemostatic life-threatening manifestations. Occurrence of thromboembolic or haemorrhagic ep...
journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：
更新日期：2004-05-01 00:00:00
abstract：:Several biological parameters for assessing selenium status have been determined in years 1985-1986 in a large Belgian population group, males and females 0 to 92 years old, representative from Brussels and surroundings. In 145 people, 20 to 79 years old, mean concentrations were: 1.06 +/- 0.15 mumol Se/l plasma, 5.0 ...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1989-01-01 00:00:00
abstract：:We describe the case of a serological reactivation in a Toxoplasma-seropositive subject, following a cardiac transplantation transmitting cysts contained in the myocardial tissue. In a context of acute graft rejection, primary chemoprophylaxis enables to avoid onset of opportunistic toxoplasmosis, emerging with immuno...
journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：10.1684/abc.2012.0706
更新日期：2012-05-01 00:00:00
abstract：:The presence of the R506Q mutation of the factor V gene is associated with an increased risk of thromboembolism, particularly during pregnancy. Recently, its involvement in the development of obstetrical complications, such as preeclampsia and fetal losses, has been evoked. The resulting factor VQ506 (factor V Leiden)...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1998-07-01 00:00:00
abstract：:Myelodysplastic syndromes (MDS) are clonal disorders of pluripotent hematopoietic stem cells. MDS occur predominantly over the age of 60 years. The diagnosis of MDS is based on the examination of both blood films and bone marrow aspirate. Diseases such as vitamin B12 and/or folate deficiency, or cytotoxic therapy lead...
journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：
更新日期：2000-07-01 00:00:00
abstract：:Since 1989 many kits have been commercialized for measuring estradiol by non-isotopic immunoassays which largely contributed to the diffusion of this parameter. Rapidly, in quality control schemes, a wide dispersion of results has been observed. In this paper, the kits' characteristics (precision, accuracy and detecti...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1995-01-01 00:00:00
abstract：:Biochemical diagnosis of hereditary metabolic diseases requires the detection and simultaneous identification of a large number of compounds, hence the interest in metabolic profiles. Amino acid chromatography allows the identification and quantification of more than forty compounds. As part of the accreditation proce...
journal_title：Annales de biologie clinique
pub_type： 杂志文章,实务指引
doi：10.1684/abc.2020.1585
更新日期：2020-10-01 00:00:00
abstract：:The purpose of this transverse prospective study was to determine blood nutritional, immunity and inflammatory proteins change in vitamin A deficiency in children of school-age (262 children, aged 7 to 15 years). Blood vitamin A has been determined by HPLC with UV detection. Proteins have been measured by radial immun...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：2005-05-01 00:00:00
abstract：:Monoclonal antibodies are being used as drugs in the diagnosis, prevention, and treatment of human diseases. The discipline of antibody engineering has evolved with modern cellular and molecular biology methods to meet the challenge of producing human monoclonal antibodies for in vivo biotherapy. In this overview, app...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1989-01-01 00:00:00
abstract：:Legislation and ISO 15189 international standard provide that the clinical laboratories shall organize the communication of the biological assay results, especially with the establishment of a list of critical assays, whose results shall be reported during doctor's on call period but also through restricting result tr...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2017.1245
更新日期：2017-06-01 00:00:00
