Abstract:
:Haemochromatosis is the most common genetic disease in individuals of Northern European origin. This disorder of iron metabolism, for which the molecular basis remains poorly understood, is characterized by an excessive absorption of dietary iron through the duodenal mucosa. Progressive iron loading of parenchymal organs results in the mid-life onset of clinical complications, and patients may succumb to cardiac failure and/or hepato-carcinoma. But patients who undergo early diagnosis and phlebotomy treatment before the development of organ damage have a normal life expectancy. The haemochromatosis gene was recently isolated and encodes a HLA class I related protein. A missense mutation (C282Y) in the homozygous configuration was observed in more than 92% of the patients. So diagnosis and genetic counselling are getting modified by this direct genotyping test.
journal_name
Ann Biol Clin (Paris)journal_title
Annales de biologie cliniqueauthors
Jouanolle AM,David V,Le Gall JYsubject
Has Abstractpub_date
1997-05-01 00:00:00pages
189-93issue
3eissn
0003-3898issn
1950-6112journal_volume
55pub_type
杂志文章,评审abstract::Cytofluorograph analysis after immunofluorescence with monoclonal antibodies can be useful for various antigens identification on the surface of cell membrane. This technic is described for antigen HLA B27 identification. This HLA antigen is known indeed to be linked to rhumatismal diseases. The fluorescence histogram...
journal_title:Annales de biologie clinique
pub_type: 杂志文章
doi:
更新日期:1989-01-01 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::In Alzheimer's disease, cortical areas of affected patients are invaded by extracellular proteinous deposits called senile plaques, the main component of which is called amyloid beta-peptide or A beta. This peptide derives from the proteolytic attack of a precursor, the beta-amyloid precursor protein, by two enzymes c...
journal_title:Annales de biologie clinique
pub_type: 杂志文章,评审
doi:
更新日期:1998-05-01 00:00:00
abstract::We resume here the guidelines about sample processing and transport for laboratory tests. All the steps of the pre-examination phase process, downstream to the recording of the requests, are described in this document. The purpose is to assure a secure and optimal sample management. The traceability of all the steps o...
journal_title:Annales de biologie clinique
pub_type: 杂志文章,实务指引
doi:10.1684/abc.2011.0549
更新日期:2010-12-01 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::The aging process is an universal phenomenon. All individuals of a given species are dead by some age characteristic of the species. In spite of many biological and clinical observations on the changes that occur during aging, understanding about the causes of aging or the mechanisms determining "the life span potenti...
journal_title:Annales de biologie clinique
pub_type: 杂志文章
doi:
更新日期:1990-01-01 00:00:00
abstract::Human embryonic stem cells (hESC) are obtained from the inner cell mass from the early embryo at blastocyste stage. Derived in cell lines for the first time in 1998, they can be maintained in culture in an undifferentiated state indefinitely under certain conditions. Two essential properties characterize hESC: pluripo...
journal_title:Annales de biologie clinique
pub_type: 杂志文章,评审
doi:10.1684/abc.2008.0224
更新日期:2008-05-01 00:00:00
abstract::We report the case of an 83-year-old woman admitted to the accident and emergency unit for pneumopathy. The blood cell count on the DXH automaton (Coulter® ™ UniCel® DxH) found a normochromic and normocytic anemia, anormal platelet count and subnormal leukocyte formula. The only alarm raised by the automaton was the p...
journal_title:Annales de biologie clinique
pub_type: 杂志文章
doi:10.1684/abc.2018.1406
更新日期:2019-04-01 00:00:00
abstract::Heterogeneous immunoassays are very sensitive and only limited in terms of performance by non specific binding. They require separation of free from bound fractions and concomitant use of a solid phase coated with an immunoreactive component (i.e. immunosorbent). The improvement of these key immunosorbents is crucial ...
journal_title:Annales de biologie clinique
pub_type: 杂志文章
doi:
更新日期:1990-01-01 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::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::Type 2 diabetes (T2DM) associated with non-alcoholic fatty liver disease (NAFLD) increases cardiovascular risk. Complex and subtle connections are established between hepatic dysfunction and adipose tissue hyperactivity. This relationship is mediated by insulin resistance, dyslipidemia and inflammation. Recently incre...
journal_title:Annales de biologie clinique
pub_type: 杂志文章
doi:10.1684/abc.2019.1436
更新日期:2019-06-01 00:00:00
abstract::In this report, the authors have studied the plasma and red blood cell concentrations of both zinc and copper in 90 uremic patients treated by intermittent hemodialysis. They found that plasmatic and erythrocytic levels of zinc together with the copper red blood cell concentrations determined before and after the hemo...
journal_title:Annales de biologie clinique
pub_type: 杂志文章,评审
doi:
更新日期:1989-01-01 00:00:00
abstract::Adult neutropenia, defined as a blood neutrophil count below 1.5 G/L, is a common condition. The most common cause of acute neutropenia is a drug-related reaction or an acute infectious disease. In chronic forms many etiologies are possible, sometimes poorly-defined, requiring precise explorations. The purpose of this...
journal_title:Annales de biologie clinique
pub_type: 杂志文章,评审
doi:10.1684/abc.2018.1393
更新日期:2018-12-01 00:00:00
abstract::Urinary ammonium excretion is the best parameter to quantify net acid excretion by the kidney. As measurement of ammonium excretion is not routinely available, clinicians use formulas to estimate NH(4)+ excretion. However, the measurement of urinary NH(4)+ concentration can be performed by an automatically method, whi...
journal_title:Annales de biologie clinique
pub_type: 杂志文章
doi:10.1684/abc.2008.0232
更新日期:2008-07-01 00:00:00
abstract::In this study the authors compare two automated coagulation instruments: the koagulab-40A (Orthodiagnostics Systems) and l'ACL-100 (Instrumentation Laboratory) using two different methods of detection, photo-optical and nephelemetric respectively. The three parameters studied are: prothrombin time (PT) (82 samples), a...
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 most generalized methods in enzymology are based on the quantitative assay of compounds, substrate or coenzyme, by spectrophotometry without any separation. Such a method is ruled out if the colorimetric reaction is not specific of the compound. In liver enzymology, aside the classical metabolic pathways, such ass...
journal_title:Annales de biologie clinique
pub_type: 杂志文章
doi:
更新日期:1976-01-01 00:00:00
abstract::With the general tendency that's to say the grouping of laboratories as technical divisions and the accreditation's obligation, the handling of urinary sample preservation's conditions is a major concern. Urinary sample preservation, with or without boric acid, for UF 1000i urinalysis was the purpose of this study. No...
journal_title:Annales de biologie clinique
pub_type: 杂志文章
doi:10.1684/abc.2011.0625
更新日期:2011-09-01 00:00:00
abstract:UNLABELLED:The aim of our study was to evaluate the sensitivity, specificity and predictive values of isolated and combined ASCA and NANA assays in Tunisian inflammatory bowel diseases patients and to assess whether their presence is associated with particular clinical features of the disease. METHODS:128 patients (39...
journal_title:Annales de biologie clinique
pub_type: 杂志文章
doi:10.1684/abc.2010.0471
更新日期:2010-09-01 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::Increased level of C reactive protein in the serum of neonates indicates the presence of infection, whereas the classic signs (hyperthermia, neutrophilia...) may often fail. So the determination of C reactive protein is useful and has to be rapidly performed on a small quantity of blood. The authors evaluate a fluores...
journal_title:Annales de biologie clinique
pub_type: 杂志文章
doi:
更新日期:1989-01-01 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::The development of enzymo-immunological technics and the synthesis of efficacious immuno-adsorbants has given rise to several immuno-enzymometric methods of which one, ELISA (enzyme-linked immunosorbent assay) has proved particularly practical and sensitive for the estimation of antibodies. ...
journal_title:Annales de biologie clinique
pub_type: 杂志文章,评审
doi:
更新日期:1978-01-01 00:00:00
abstract::The performance of the HemoCue apparatus in the diagnosis of anaemia in pregnancy was evaluated using the HemoCue Hb 301 and the HemoCue Hb 201+ apparatus. The HemoCue Hb 201 + was considered as the reference method in this study. Two hundred and thirty six pregnant women attending the University Teaching Hospital in ...
journal_title:Annales de biologie clinique
pub_type: 杂志文章
doi:10.1684/abc.2008.0195
更新日期:2008-01-01 00:00:00
abstract::Immunophenotyping is a major tool for the diagnosis of the chronic lymphoïd leukaemia (CLL). Its interest remains limited in the classification of the other B chronic lymphoproliférative syndromes (B-CLPS). We evaluate the place of the flow cytometry (CMF) in the diagnosis and classification of the non CLL B-CLPS. The...
journal_title:Annales de biologie clinique
pub_type: 杂志文章
doi:10.1684/abc.2013.0915
更新日期:2013-11-01 00:00:00
abstract::Peripheral gangrene with disseminated intravascular coagulation (DIC) during severe Plasmodium falciparum malaria has already been described but is unfrequent. We report here the case of a 62-year-old man admitted in the intensive care unit of our hospital for severe Plasmodium falciparum malaria with disseminated int...
journal_title:Annales de biologie clinique
pub_type: 杂志文章
doi:10.1684/abc.2009.0367
更新日期:2009-09-01 00:00:00
abstract::This study aims to investigate the prevalence of obesity and overweight and their association with lipid parameters in bipolar patients. Our study included 130 patients with bipolar disorder and 130 control subjects aged respectively 37.9 +/- 12.1 and 37.2 +/- 13.1 years. Obesity was evaluated by body mass index (BMI)...
journal_title:Annales de biologie clinique
pub_type: 杂志文章
doi:10.1684/abc.2010.0403
更新日期:2010-05-01 00:00:00
abstract::In 2003, for the scheme of the French national external quality assessment, Afssaps sent to medical laboratories a sample for which two analyses could be carried out: the electrophoresis of proteins and the characterization for monoclonal immunoglobulin. The purpose of this new approach was to make it possible to the ...
journal_title:Annales de biologie clinique
pub_type: 杂志文章
doi:
更新日期:2005-01-01 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::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