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 localisation of the keratane sulfate in skelet and in eyes associated to the conservation of a normal intelligence. To date, the characterization and purification of the GALNS gene made a research for pathogenic mutations in patients with MPS IV A easier. These mutations are responsible of severe, intermediate or mild phenotype. The aim for this work was the research of clinical, biologic and molecular characteristics of two Tunisian MPS IV A patients who were offsprings of consanguineous mating. Enzymatic and urinary diagnostics suggested a MPS IV A phenotype. A novel homozygous mutation IVS1+1G-A was identified by direct sequencing in the GALNS gene of the two patients. Identification of GALNS mutations provide genotype/phenotype correlations and permit the precision of anomalies responsible of Morquio A phenotype in concerned families.
journal_name
Ann Biol Clin (Paris)journal_title
Annales de biologie cliniqueauthors
Khedhiri S,Chkioua L,Ferchichi S,Bouzidi H,Haj Khelil A,Ben Mansour R,Kassab A,M'dallah S,Chaabouni M,Jrad T,Ben Chibani J,Miled A,Laradi Ssubject
Has Abstractpub_date
2007-01-01 00:00:00pages
59-63issue
1eissn
0003-3898issn
1950-6112journal_volume
65pub_type
杂志文章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：:There has been rapid progress in techniques for the detection of antinuclear antibodies. The methods most widely used at present are indirect immunofluorescence, Ouchterlony double immunodiffusion, passive haemagglutination and the Farr test. Antinuclear antibodies recognise several antigens. With a few exceptions, in...
journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：
更新日期：1982-01-01 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：:Gas-liquid chromatography has been used directly on clinical specimens as a method for presumptive diagnosis of anaerobic infections. This technique proved to be valuable and reliable. Combined with a Gram stain, it offers the possibility to differentiate in less than 1 hour aerobic from anaerobic infections by means ...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1983-01-01 00:00:00
abstract：:Eighteen paraplegics with or without neurogenic osteo-arthropathy (POAN) were evaluated for variations in their urinary excretion levels of total (T), and free (L) hydroxyproline and its non-dialysable (ND) and dialysable (D) peptide fractions. Increases in urinary hydroxyproline, moderate rises in free hydroxyproline...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1982-01-01 00:00:00
abstract：:Con A stimulated lymphocytes from some patients with primary glomerular disease release in vitro a lymphokine, the vascular permeability factor (VPF). House dust sensitization was early reported among these patients. We therefore studied the action of this specific mitogen on VPF production in 58 patients with primary...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1984-01-01 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 aim of this article is to describe the processes involved in the organisation and function of the medical laboratory to fulfill the needs of the users. The knowledge of the different interfaces and relationship is a condition for the control of the processes according to the quality management system. ...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2013.0837
更新日期：2013-06-01 00:00:00
abstract：:We report the case of a 20 years old woman with unusual acute myeloid leukemia t(8;21). Cytological, phenotypic and cytogenetic investigations showed a divergence from those of the literature as well as data for the last 12 LA to t(8;21) supported in the service. ...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2013.0922
更新日期：2014-01-01 00:00:00
abstract：:Acute leukemia of megakaryocyte lineage (AML-7) is a rare entity defined by a blastic proliferation of which a part (>or= 50%) is represented by megakaryoblasts. We report the case of a 95 year old woman presenting a AML-7 secondary to a myelodysplastic syndrome (MDS), that represents an unusual form of MDS acutisatio...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：2006-03-01 00:00:00
abstract：:Salivary cortisol was determined with four commercially available immunoassays: one enzyme-immunoassay (Cortisol Biotrol), two fluoro-immunoassays (TDX, Abbott; Stratus, Baxter) and one radioimmunoassay (Coat-A-Count, Behring). In order to improve the sensitivity of these immunoassays, it was necessary to increase sam...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1996-01-01 00:00:00
abstract：:Horseradish peroxidase is often used as an antibody-coupled enzyme and several procedures have been developed to obtain IgG-peroxidase conjugates. The most widely used are coupling with periodate or glutaraldehyde. To compare the efficiency of these methods, the authors conducted periodate coupling or glutaraldehyde c...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1995-01-01 00:00:00
abstract：:The aim of this study was to evaluate the pre-analytical factors contributing to uncertainty in thyroglobulin measurement in fluids from fine-needle aspiration (FNA) washout of cervical lymph nodes. We studied pre-analytical stability, in different conditions, of 41 samples prepared with concentrated solutions of thyr...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2017.1225
更新日期：2017-04-01 00:00:00
abstract：:Cystatin C is a low molecular weight-protein, which may replace creatinine for the evaluation of renal function, particularly in the clinical settings where the relationship between creatinine production and muscular mass impairs the clinical performance of creatinine. This paper intends to summarize the current knowl...
journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：10.1684/abc.2008.0227
更新日期：2008-05-01 00:00:00
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 pharmacoki...
journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：
更新日期：2004-09-01 00:00:00
abstract：:Lymphoplasmacytic lymphoma is rare. Although most cases of LPL are Waldenström macroglobulinemia associated with an immunoglobulin M, there are exceptions. Indeed, few cases are immunoglobulin A-secreting or immunoglobulin G-secreting. These cases are poorly described and raise diagnostic difficulties. The purpose of ...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2018.1384
更新日期：2018-12-01 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：: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：:Two cases of newborn haemolytic disease because of ABO incompatibility are reported. In both cases, blood erythroblastosis exceeded 300 per 100 leukocytes at birth. Both newborns developed early jaundice and one presented with anaemia. Intensive phototherapy begun soon after birth was an effective treatment. The diagn...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：2004-05-01 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：:The identification of a product absorbed by an opiate consumer is sometimes problematic since there is no specific biomarker for all molecules. We developed an ultra-high pressure liquid chromatography coupled to tandem mass spectrometry technique which allows the identification and the quantification of 25 opiates in...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2014.0944
更新日期：2014-03-01 00:00:00
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journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1993-01-01 00:00:00
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journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1982-01-01 00:00:00
abstract：:Determination of plasma delta-aminolaevulinic acid levels is of interest for the diagnosis of disorders of heme biosynthesis. We describe a reliable method for the determination of this parameter, based on a modification of the original method of Mauzerall and Granick. Analytical criteria are defined and the reference...
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 authors describe an immunoassay technique of serum progesterone using a chemiluminescent tracer (LIA): progesterone aminobutylethylisoluminol 11-a-hemisuccinate (P-ABEI). The intrinsic characteristics of this technique were studied. The progesterone concentrations of 62 serum samples were simultaneously titrated u...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1988-01-01 00:00:00
abstract：:We have compared serum galactosyltransferase activity in pregnant women and in newborn children. Subjects in this study were 75 women at different stages of pregnancy and 60 newborns, including premature infants. Activity ratios in pregnant women are based on the period of gestation, expressed in weeks of amenorrhea. ...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1995-01-01 00:00:00
abstract：:Salmonelloses are becoming more frequented. To date, very few cases of aneurisms or vascular grafts infections have been described. We report the rare case of an extradigestive manifestation, due to Salmonella enteritidis affecting a patient with Behçet disease. The biological diagnosis is based on microorganism isola...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2010.0405
更新日期：2010-01-01 00:00:00
abstract：:This article gives a greed for evaluation of the application in medical laboratory according to requirements of the standard EN ISO 15189 : 2012. This is to allow the responsible of the laboratory to check the requirements of this standard to be applied. ...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2013.0847
更新日期：2013-06-01 00:00:00
abstract：:High resolution proton nuclear magnetic resonance (NMR) spectroscopy is a new analytical technique which allows to readily identify and quantitate a variety of key metabolites in cerebrospinal fluid (CSF) in relation to normal and pathological brain activity. Proton NMR spectroscopy can be performed on native CSF, wit...
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 authors describe an automatic method of estimation of uric acid based on the colour obtained in the presence of Gaiac resin and peroxidase, and the hydrogen peroxide produced by the action of urate oxidase on uric acid. ...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1975-01-01 00:00:00
