Abstract：
:Our study was carried out at a family from the Sahel (Tunisia). The father (index case) and his two children (son and daughter). The father beta-glucocerebrosidase (GCB) activity showing a deficit. These biochemical analyses are supplemented by molecular studies: enzymatic digestion and the direct sequencing. Two mutations were analysed, the p.Asn 370 Ser and the p.Leu 444 Pro. The DNA sequencing confirmed the presence of the homozygous genotype of this p.Asn 370 Ser in the father DNA and the heterozygous one in the two children DNA. It has no detection of the 55 pb deletion in exon 9 among all the specimens of DNA treated. The mutation p.Asn 370 Ser is associated with Gaucher disease type 1 correlated of a total absence of neurological involvements.
journal_name
Ann Biol Clin (Paris)journal_title
Annales de biologie cliniqueauthors
Dandana A,Ferchichi S,Khedhiri S,Chkioua L,Jaidane Z,Monastiri K,Ben Khelifa S,Ben Mansour R,Maire I,Froissart R,Bonnet V,Laradi S,Miled Asubject
Has Abstractpub_date
2007-11-01 00:00:00pages
647-52issue
6eissn
0003-3898issn
1950-6112journal_volume
65pub_type
杂志文章abstract：:High performance liquid chromatography has been used to separate and analyse the different free porphyrins in biological materials. The selective determination of uroporphyrin, coproporphyrin, protoporphyrin and hepta, hexa, pentacarboxylic porphyrins, the sensitive and quantitative fluorescence detection contribute t...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1986-01-01 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：:The aim of this study was to evaluate the automated urine test strip analyzer Aution Max AX 4280 which uses strips able to measure 12 urinary parameters. For precision study, we considered glucose, protein, blood, leukocytes, nitrite, and pH and the four first were compared with usual methods: chemical measurement or ...
journal_title：Annales de biologie clinique
pub_type： 临床试验,杂志文章
doi：
更新日期：2005-11-01 00:00:00
abstract：:We present the distribution of cytochrome P450, the terminal oxidase of the microsomal drug-metabolizing system among the different species, organs, and its subcellular localization. Physicochemical properties, and more specially spectral properties, of this hemoprotein are reviewed. We also described the two microsom...
journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：
更新日期：1975-01-01 00:00:00
abstract：:A reversed-phase high-performance liquid chromatographic assay for the determination of the HIV protease inhibitors amprenavir (Agenerase) and indinavir (Crixivan) in human plasma is described, using a mobile phase consisting of 0.50 M phosphate buffer (adjusted to pH 5,5) - Milli-Q water - acetonitrile (120: 1,080: 8...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：2001-03-01 00:00:00
abstract：:The presence of A-protein was sought in strains of S. epidermidis and S. aureus, sensitive or resistant to methicillin. The technique used was that of passive hemagglutination of red cells of sheep, either normal or formolated and sensitised by anti-erythrocyte antibodies. A-protein was not found in any of the 157 str...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1975-01-01 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：:The impact of the major interferents (hemolysis, bilirubin, turbidity), on the quality of biochemical tests, was evaluated on multiparametric analysers (CL 7200 Shimadzu, Japan/Ciba-Corning, France; AU 5231 and AU 5223 Olympus, Japan/bioMérieux, France), according to the SFBC instructions. Interferences were detected ...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1996-01-01 00:00:00
abstract：:The diagnosis of non ST elevation myocardial infarction (NSTEMI) is very important for the emergency doctor. According to the literature copeptin, a marker of the endogenous stress, combined with troponin could be of interest in this diagnosis. The objective of the study was to investigate the association of high-sens...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2013.0884
更新日期：2013-09-01 00:00:00
abstract：:Bamifylline in therapeutic dosage may markedly disturb the determination of urinary 17-oxosteroids by Zimmermann's reaction, although the conditions of extraction and formation of this chromogenic substance are not always optimal for the metabolites of bamifylline. It is easy to suspect this interference as the chromo...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1978-01-01 00:00:00
abstract：:The non-secreting myeloma is a rare form of myeloma. Its association with a nephrotic syndrome is exceptional. The observation which we report below described the history of a 66 years old patient who presents a non-secreting myeloma revealed by a nephrotic syndrome. Various assumptions on the mechanism of no excretio...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：2006-09-01 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：:The aim of the present work was to assess the genetic and antigenic variability in the VP1 region of type 3 echviruses (E-3), an enterovirus serotype associated to meningitis, neuro-muscular diseases and type 1 diabetes in human. Forty-six VP1 sequences of E-3, among which 9 were isolated in tunisian infants, were inc...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2012.0688
更新日期：2012-03-01 00:00:00
abstract：:Diagnosis of haematological malignancies is based on multiparametric analysis such as morphology, phenotype and genotype studies. Some entities are only defined by one of these approach. Flow-cytometry (FCM) is useful to determined the normal counterpart of the tumoral process and its differentiation status within the...
journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：
更新日期：2002-11-01 00:00:00
abstract：:Twenty four strains of coagulase-negative staphylococci from clinically significant blood cultures were separated in four groups on the basis of oxacillin susceptibility and phenotype of resistance to aminoglycoside antibiotics. Susceptibility testing included disk diffusion testing, M.I.C. and M.B.C. determinations a...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1990-01-01 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：: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
abstract：:Strongyloïdes stercoralis infection is a polymorphic and non specific clinical presentation. Often asymptomatic, it can be not seen. However, in patients with immunodeficiency, high parasite load can be observed, consequence of self-infestation cycle, and can spread throughout the body. This presentation of malignant ...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2013.0809
更新日期：2013-03-01 00:00:00
abstract：:Using factorial design, the authors evaluate the factors which influence in vitro, the anti-fungal activity of ketoconazole against a strain of Candida albicans (CBS 562). With the four mediums most frequently used, (Sabouraud, Casitone, MEM, YNB) they precise the results concerning inoculum, pH, incubation temperatur...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1987-01-01 00:00:00
abstract：:S100B is a small protein selectively synthesized by cerebral astroglial cells. S100B participates physiologically in the regulation of intracellular free calcium levels, and exerts a neurotrophic activity on cerebral cells. The interest of S100B protein in clinical biology results from its physiological presence in bi...
journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：10.1684/abc.2013.0901
更新日期：2013-11-01 00:00:00
abstract：:The erythrocyte bilirubin value is of great interest in neonate pathology. Its sudden rising reflects the overbinding capacity to plasmatic albumin. A colorimetric, simple and accurate micromethod with 2-hydrazino-benzothiazol as reagent leads to its quantitative determination. Hemolysis interference is removed. The a...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1979-01-01 00:00:00
abstract：:We quantify the impact of several variables including site of blood draw, delay in measurement, and use of the cyanide antidote hydroxocobalamin on detection of both normal (<2 mmol/L) and elevated (>6 mmol/L) human plasma lactate. An in vivo study assessed effects of venous or arterial origin of blood samples. Two in...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2017.1310
更新日期：2018-01-01 00:00:00
abstract：:The great diversity of methods for manganese analysis in biological materials (serum, plasma, whole blood, urine, spinal fluid and hair) reveals the difficulty in measuring extremely small quantities of this element. An examination of these methods demonstrate that the most used one is flameless atomic absorption spec...
journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：
更新日期：1988-01-01 00:00:00
abstract：:The aim of this study is to present an evaluation of HbA(1c) Assay on Architect CI8200 (Abbott Diagnostic). The measurement includes Hb assay by colorimetry and HbA(1c) by immunoturbidimetry. The percentage of HbA(1c) is the report HbA(1c)/complete Hb with a conversion coefficient. Repetability (n = 30; CV: 1.15-1.91%...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2009.0301
更新日期：2009-01-01 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：:Hyperhomocysteinemia is an independent vascular risk factor involved in ischaemic stroke. Aim of this study was to evaluate the prevalence of hyperhomocysteinemia and the role of the metabolic determinants in ischaemic stroke. The study concerned 183 patients in the Department of neurology of the teaching hospital of ...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2010.0480
更新日期：2010-11-01 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：BACKGROUND:probiotic agents are increasingly used as over the counter drugs for the treatment of a variety of inflammatory and infectious conditions. The rationale of their use seems to restore a friendly bacterial flora in the gut. Complications of probiotic use, although rarely reported, can occur. OBSERVATION:we de...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2008.0210
更新日期：2008-03-01 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：: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
