Abstract:
:Advances in molecular biology applied to the location of genes have generated a real evolution for the screening of women carrying X-related diseases. It is however imperative to first try to define the status of these women using classical methods: bayesian calculations taking into account genealogical data and direct screening which is partially reliable because of the inactivation of an X chromosome in women. The new genetic engineering techniques enable to locate the gene in an affected patient and follow its transmission in the families with the use of tracers linked to the gene of the disease. The difficulties of these studies are due to two phenomena. First, the risk of allele recombination because of a crossing over during the mitosis. This risk must be computed and specified. The second phenomenon is related to variations of information in the families which may either completely prevent identification of the carriers, or give less reliable results. The increasing number of molecular probes should enable to resolve this problem.
journal_name
Ann Biol Clin (Paris)journal_title
Annales de biologie cliniqueauthors
Kaplan Jsubject
Has Abstractpub_date
1988-01-01 00:00:00pages
402-5issue
6eissn
0003-3898issn
1950-6112journal_volume
46pub_type
杂志文章abstract::Until now, the methods of analysis by luminescence have not developed greatly in clinical biology because of the instability of the reagents and the absence of a single protocol applicable to a sufficiently wide range of assays. For this reason, the application has been limited to several assays using a specific biolu...
journal_title:Annales de biologie clinique
pub_type: 杂志文章,评审
doi:
更新日期:1985-01-01 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::Blood gas analyzers are able to provide information on a wide range of oxygenation parameters. Some of these data are complex. Their biological significance or clinical consistency are not always well known. This article aims to define these parameters, their reference values according to the type of sample; and to ou...
journal_title:Annales de biologie clinique
pub_type: 杂志文章,评审
doi:10.1684/abc.2017.1274
更新日期:2017-12-01 00:00:00
abstract::Second generation hepatitis C virus (HCV) Elisas are currently in use in Europe and have been submitted for approval in the United States. These new assays contain additional antigens from the putative nucleocapsid and NS-3 regions of the HCV genome in addition to the c100-3 antigen present in first generation Elisas....
journal_title:Annales de biologie clinique
pub_type: 杂志文章
doi:
更新日期:1992-01-01 00:00:00
abstract::Exploring coagulation in newborns and children is a challenge due to the low levels of both procoagulant factors and inhibitors. Conventional coagulation tests might be inadequate to explore all of these changes. The aim of the study is to evaluate the thrombin generation assay, a global test to explore coagulation, i...
journal_title:Annales de biologie clinique
pub_type: 杂志文章
doi:10.1684/abc.2020.1607
更新日期:2020-12-01 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::Inhibins, activins, and anti-Mullerian hormone (AMH) are gonadal dimeric peptides produced in ovaries and testes by homologous cells, granulosa cells and Sertoli cells, respectively. The production of inhibins is driven by FSH, that of AMH may indirectly depends on FSH, while it is down regulated, at least in the male...
journal_title:Annales de biologie clinique
pub_type: 杂志文章,评审
doi:10.1684/abc.2009.0329
更新日期:2009-05-01 00:00:00
abstract::Cardiac troponin T (troponin Tc) of second generation has been measured on the Boehringer Elecsys 2010 analyzer. Cardiac specificity has been studied in patients presenting a rhabdomyolysis syndrome and the results compared with those obtained for cardiac troponin I (troponin Ic) measured on the Dade-Behring Stratus a...
journal_title:Annales de biologie clinique
pub_type: 杂志文章
doi:
更新日期:1998-11-01 00:00:00
abstract::48 Tunisian people suffering from the IDDM auto-immune disease were compared to 35 control healthy persons for the polymorphisms of the complement BF, C2 and C4 proteins and genes, of the IgG (Gm allotypes) as well as of the TNF alpha and TCR C beta genes. Our study shows that the BFF1-C4A3-C4BQO and BFS-C4AQ0-C4B1 co...
journal_title:Annales de biologie clinique
pub_type: 杂志文章
doi:
更新日期:1991-01-01 00:00:00
abstract::The recommended conservative treatment of hyperoxaluria is mainly based on hyperhydration and ingestion of inhibitors of crystallization. In accordance with this context, the aim of this study was to determine the in vitro effect of Hordeum vulgare on calcium oxalate crystallization oxalo-dependent. The crystallizatio...
journal_title:Annales de biologie clinique
pub_type: 杂志文章
doi:10.1684/abc.2012.0770
更新日期:2012-11-01 00:00:00
abstract::The identification of polymorphism A4059V associated with the 12276 A>G at exon 45 of the PKD1 gene in a Tunisian polycystic patient. ...
journal_title:Annales de biologie clinique
pub_type: 杂志文章
doi:10.1684/abc.2015.1036
更新日期:2015-03-01 00:00:00
abstract::Bacterial infectious pathology presents a series of new features which have been elucidated over the last few decades. These new aspects are derived from various factors: a development of our state of knowledge, a change in the ecology of a number of bacteria and a change in the receptiveness of patients. Modern infec...
journal_title:Annales de biologie clinique
pub_type: 杂志文章
doi:
更新日期:1983-01-01 00:00:00
abstract::Mucopolysaccharidosis type IV A (MPS IV A) is an autosomal recessive disorder resulting from the deficient activity of the lysosomal enzyme, N-acetylgalactosamine-6-sulfate sulfatase (GALNS) and the progressive lysosomal accumulation of keratane sulfate. Clinically, the MPS IV A differs from the other MPS by the local...
journal_title:Annales de biologie clinique
pub_type: 杂志文章
doi:
更新日期:2007-01-01 00:00:00
abstract::Three methods (rapid bioassay, enzyme immunoassay and fluoroimmunoassay) for the determination of amikacin level in serum are compared. The statistical analysis of the results show correlation coefficients equal to 0.967 (EMIT versus FIA), 0.970 (bioassay versus FIA) and 0.983 (bioassay versus EMIT). The three methods...
journal_title:Annales de biologie clinique
pub_type: 杂志文章
doi:
更新日期:1984-01-01 00:00:00
abstract::In a control population, we filed the 24-hour urinary calcium to set normal values, based on weight, BMI and menopause. By assessing calcium intake, 25OHD, PTH, CTX, GFR, we wanted to study how these could influence calcium excretion. A total of 317 subjects of 55.82 ± 12.6 years were studied: 249 women (210 were post...
journal_title:Annales de biologie clinique
pub_type: 杂志文章
doi:10.1684/abc.2016.1174
更新日期:2016-08-01 00:00:00
abstract::http://biotribune.com/ Biotribune.com ou la biologie medicale sur internet. Ce site est concu comme un portail sur la biologie clinique. Accueil d'internautes sur une page comportant, entre autres, les rubriques : actualite, evenements, revue des connaissances, rubrique juridique et petites annonces. Biotribune propos...
journal_title:Annales de biologie clinique
pub_type: 杂志文章
doi:
更新日期:2000-07-01 00:00:00
abstract::Toxicological screening is a specific approach to analytical toxicology that uses analytical tools such as GC-MS, LC-UV (diode array) or LC-MS. Toxicological screening allows the detection and simultaneous identification of a large number of compounds. The results may be based on the use of one or more techniques. As ...
journal_title:Annales de biologie clinique
pub_type: 杂志文章,实务指引
doi:10.1684/abc.2019.1422
更新日期:2019-04-01 00:00:00
abstract::HbA(1c) assay by high pressure liquid chromatography remains submitted to interferences, among which that of labile HbA(1c) in 1 to 2% of samples. We have evaluated the interference of labile HbA(1c) on HbA(1c) assay using Variant II analyzer (Biorad), by in vitro formation of labile glycated haemoglobin and by evalua...
journal_title:Annales de biologie clinique
pub_type: 杂志文章
doi:10.1684/abc.2008.0251
更新日期:2008-07-01 00:00:00
abstract::The indirect fluorescent antibody (IFA) technique for specific IgM anti-Candida albicans was applied to 158 sera and compared with sucrose density gradient centrifugation. For detection of specific IgM results of both methods were in agreement for 157 sera (99.36%). Specific IgM titers determined with IFA on unfractio...
journal_title:Annales de biologie clinique
pub_type: 杂志文章
doi:
更新日期:1978-01-01 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::We retrospectively evaluated measurement data and clinical relevance of autoantibodies to gangliosides in peripheral neuropathies (PN). The IgG and IgM antiganglioside autoantibodies were determined by our own immunodot-blot assay on membrane and by enzyme-linked immunosorbent assay (Elisa) in sera of 1,342 patients w...
journal_title:Annales de biologie clinique
pub_type: 杂志文章
doi:
更新日期:1999-09-01 00:00:00
abstract::The SFBC working group aimed to deal with biological tests outside the French nomenclature that may be useful for the follow-up of dialysis patients. Our discussion was divided into 3 parts: 1) evaluation of peritoneal membrane characteristics; 2) monitoring of renal replacement therapy using regional citrate anticoag...
journal_title:Annales de biologie clinique
pub_type: 杂志文章,评审
doi:10.1684/abc.2019.1459
更新日期:2019-08-01 00:00:00
abstract::Community viral bronchopneumonias are frequent, mainly in children, and can be associated to all respiratory viruses: influenza- and parainfluenzavirus, respiratory syncytial virus, adenovirus, rhinovirus. The diagnostic method which proves viral infection of the respiratory tissues is selected as the direct detection...
journal_title:Annales de biologie clinique
pub_type: 杂志文章,评审
doi:
更新日期:1998-01-01 00:00:00
abstract::Insoluble elastin immobilised in Agar plates was used as substrate to quantitate the elastase inhibitory capacity of human sera. This technique was found valuable to evaluate the genetic deficiency of alpha-1-antitrypsin (Z phenotypes) and also the functional loss of the elastase inhibitory capacity in smokers. A sign...
journal_title:Annales de biologie clinique
pub_type: 杂志文章
doi:
更新日期:1981-01-01 00:00:00
abstract::Human hair analysis is now recognized for evaluating someone exposure to xenobiotics: drugs of abuse, pharmaceuticals and polluants. This paper describes analytical methods than can be used by biologists. For drugs of abuse after decontamination, hydrolysis of hair, selective extraction and derivatization, determinati...
journal_title:Annales de biologie clinique
pub_type: 杂志文章,评审
doi:
更新日期:1997-09-01 00:00:00
abstract::We have evaluated the methodological quality of the Rémic (microbiology guidelines - bacteriology and mycology) of the Société française de microbiologie (edition2007), using to AGREE criteria, which are consensual at an international level, in particular at the the World Health Organisation (WHO) and at the European ...
journal_title:Annales de biologie clinique
pub_type: 杂志文章
doi:10.1684/abc.2011.0536
更新日期:2011-03-01 00:00:00
abstract::Direct and indirect ion selective electrodes (ISEs) are two methods commonly used in biochemistry laboratories in order to measure the electrolytes such as sodium. In the clinical practice, it's the sodium concentration in plasma water -measured by direct ISE- which is important to consider as it is responsible of wat...
journal_title:Annales de biologie clinique
pub_type: 杂志文章
doi:10.1684/abc.2015.1046
更新日期:2015-05-01 00:00:00
abstract::Tissue Plasminogen Activator (t-PA), Single Chain Urokinase Plasminogen Activator or pro-Urokinase (scu-PA or pro-UK) and acyl enzymes are new thrombolytic agents, characterized by a high fibrin affinity, so that they provoke only mild systemic fibrinolytic effect. Their infusion would allie good thrombolytic activity...
journal_title:Annales de biologie clinique
pub_type: 杂志文章
doi:
更新日期:1987-01-01 00:00:00
abstract::SFBC working group on critical care testing describes in this paper guideline for the management of laboratory medicine examination process in emergency conditions. After a summary on French standards and regulations, the critical care testing perimeter and definitions of stat levels are presented in different context...
journal_title:Annales de biologie clinique
pub_type: 杂志文章,实务指引
doi:10.1684/abc.2015.1113
更新日期:2016-03-01 00:00:00
abstract::Anti-erythrocyte alloimmunization may occur following the transfusion of platelet concentrates, in response to the presence of residual erythrocytes. Immunization against RH1 (D) antigen is the most frequent, but transfusion of RH1 compatible platelet concentrates is not always possible because of supply constraints. ...
journal_title:Annales de biologie clinique
pub_type: 杂志文章
doi:10.1684/abc.2009.0336
更新日期:2009-05-01 00:00:00