Abstract:
:Shwachman-Diamond syndrome is a constitutional disorder characterized by exocrine pancreatic failure and neutropenia with dysgranulopoiesis. It is a rare disease, with less than 100 cases reported in France. Here we report the case of a 23-year-old woman with this syndrome. The clinical feature and the diagnostic steps are described, as well as the evolution and management in medical and laboratory medicine practice.
journal_name
Ann Biol Clin (Paris)journal_title
Annales de biologie cliniqueauthors
Kaabar M,Lemaire P,Cussac V,Besancon A,Martin-Coignard D,Fenneteau O,Laribi K,Pineau-Vincent Fdoi
10.1684/abc.2018.1358subject
Has Abstractpub_date
2018-08-01 00:00:00pages
435-438issue
4eissn
0003-3898issn
1950-6112pii
abc.2018.1358journal_volume
76pub_type
杂志文章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::Leukotrienes constitute a class of potent biological mediators of inflammation and anaphylaxis. However, their routine assay in various biological fluids is restricted by the complexity of the methodology. Previously this could only be performed by research laboratories with high pressure liquid chromatography and rad...
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 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::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::A previous multicentric study set up by the Société française de biologie clinique has emphasized the usefulness of a standardized procedure for the determination by high performance liquid chromatography of alpha-tocopherol in serum or plasma. In our study, we have tested every step of the different published procedu...
journal_title:Annales de biologie clinique
pub_type: 杂志文章,评审
doi:
更新日期:1995-01-01 00:00:00
abstract::The search for sperm is part of the examinations wich may be prescribed, following a request of jucicial services, in case of a suspicion of sexual assault. This article applies to detail how the different phases, pre-analytical, analytical and post-analytical, must be absolutely adhered to so that the biologist, expe...
journal_title:Annales de biologie clinique
pub_type: 杂志文章
doi:10.1684/abc.2008.0274
更新日期:2008-09-01 00:00:00
abstract::We compared the results of two methods of measurement of HbA(1c) before replacing the current method on Integra 800 by the HPLC method on an apparatus recently put on the market, the G8. The comparative study of the results for 119 patients was carried out. The reproducibility obtained with the G8 method is good with ...
journal_title:Annales de biologie clinique
pub_type: 杂志文章
doi:10.1684/abc.2010.0420
更新日期:2010-03-01 00:00:00
abstract::Hormonal production of the thyroid gland is constituted of thyroxine or T4 (80%) and triiodothyronine or T3 (20%). In the circulation, whole T4 originates from thyroid secretion but most of T3 (80%) is produced extrathyroidally from T4 deiodination. Conversion of T4 to T3 may be influenced by various conditions and ci...
journal_title:Annales de biologie clinique
pub_type: 杂志文章,评审
doi:
更新日期:2003-07-01 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: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::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::We have compared three assays for serum galactosyltransferase activity, which use ovomucoïd, asialo agalactofetuin and free N-acetylglucosamine respectively as exogenous acceptors. A very good correlation between the three assays is obtained, for the whole range of GT activity. When the methods are compared to one ano...
journal_title:Annales de biologie clinique
pub_type: 杂志文章
doi:
更新日期:1988-01-01 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
abstract::Panton-Valentine leukocidin-producing (PVL) Staphylococcus aureus is responsible for a highly lethal necrotizing pneumonia, which occurs predominantly in young immunocompetent patients. Hemoptysis and leucopenia often occur but are not always present. Detection of PVL gene on S. aureus strains responsible for pneumoni...
journal_title:Annales de biologie clinique
pub_type: 杂志文章
doi:
更新日期:2007-05-01 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::Multidrug resistance (MDR) phenotype expression was evaluated retrospectively in 87 patients with acute myeloid leukemia (AML), 69 with de novo AML, ten with relapsed AML and eight with AML secondary to myelodysplastic syndrome (MDS). MDR phenotype, characterized by P-glycoprotein expression (MRK16 monoclonal antibody...
journal_title:Annales de biologie clinique
pub_type: 杂志文章
doi:
更新日期:1996-01-01 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 experience of a specialized laboratory for the biological diagnosis of inborn errors of metabolism in selected pediatrics patients is reported. The strategy starts with a wide testing of blood and urine, as many inborn errors of metabolism can be detected through testing of blood and urine for increased concentrat...
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::Depression is a pathology frequently observed in general medicine (10%). Treatment of depression makes great use of drugs from different pharmacological classes. The optimal posology is difficult to establish, and clinicians prefer to avoid side effects by prescribing low regimen. This study is related to an evaluatio...
journal_title:Annales de biologie clinique
pub_type: 杂志文章
doi:
更新日期:1999-07-01 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::Anti native DNA antibodies (anti nDNA Ab), which are a highly specific feature of systemic lupus erythematosus (SLE) were measured by 3 methods: an enzyme linked immunosorbent assay (ELISA), an indirect immunofluorescence test on Crithidia luciliae (IFCL) and the Farr assay (reference test). 114 sera from patients wit...
journal_title:Annales de biologie clinique
pub_type: 杂志文章
doi:
更新日期:1990-01-01 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::The diagnosis of Protein C (PC) congenital deficiency is of first importance because it leads, more frequently than Antithrombin III deficiency, to serious thromboembolic accidents in young patients, even when PC levels are slightly decreased (40 p. cent up to 60 p. cent). In order to measure PC activity, the authors ...
journal_title:Annales de biologie clinique
pub_type: 杂志文章
doi:
更新日期:1988-01-01 00:00:00
abstract::Lungs can be the target of many fungal parasitic organisms. Some of them are specific to the lung (Pneumocystis); while others will migrate there in the course of their life cycle (Ascaris) or be caught in it (Paragonimus, Echinococcus). Sometimes, they also generate hypersensitivity reactions (fungi). In making a dia...
journal_title:Annales de biologie clinique
pub_type: 杂志文章,评审
doi:
更新日期:1990-01-01 00:00:00
abstract::Serum level monitoring of drugs allows an optimal drug therapy, because it can take into account individual pharmacokinetic (and metabolic) variations. Some special conditions in drugs and in patients are highly suggestive of drug monitoring. These include mainly physiological but also pharmacological situations and a...
journal_title:Annales de biologie clinique
pub_type: 杂志文章,评审
doi:
更新日期:1986-01-01 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::Hemolysis should lead to changes in test results. Our study evaluated the impact of hemolysis on 26 blood measurements of stat biochemistry markers (sodium, potassium, chloride, urea, creatinine, glucose, total protein, calcium, magnesium, inorganic phosphorus, uric acid, C-reactive protein, total bilirubin, ASAT, ALA...
journal_title:Annales de biologie clinique
pub_type: 杂志文章
doi:10.1684/abc.2015.1090
更新日期:2015-11-01 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::We evaluated a rapid and semi-quantitative C-Reactive Protein test on whole blood, the Actim CRP (Fumouze). Based on immuno-chromatography technology, this test ranked the blood sample in four groups: < 10 mg/L, 10-40 mg/L, 40-80 mg/L and > 80 mg/L. This evaluation finds an excellent repeatability, the absence of hook...
journal_title:Annales de biologie clinique
pub_type: 杂志文章
doi:
更新日期:2005-09-01 00:00:00
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