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：:Rheumatoid arthritis is the most common and most severe form of inflammatory arthritis. Its exact aetiology remains unknown but the combination of various risk factors is involved. Two non mutually exclusive concepts have been suggested: one based on the primary contribution of T cells and the other on that of mesench...
journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：
更新日期：1997-07-01 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：:Activation of plasminogen by tissue-type plasminogen activator (tpA) is potentiated by fibrin. We have demonstrated the role of fibrin polymerization in the potentiating effect of tpA-induced fibrinolysis. Therefore a pathogenic mechanism of thrombotic disorder may be related to an abnormal fibrin polymerization: the ...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1987-01-01 00:00:00
abstract：:Blood histamine proved to be important for the immune homeostasis. By its direct action or by means of H-2 receptors it end or prevents the excessive immune response. Recent studies revealed changes in cell mediated immunity in subjects with atopia, with increased histaminemia and their obvious protection against canc...
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：: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：: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：:An automated kinetic method to determine creatinine in plasma with Jaffé reaction (alkaline picrate reagent) using a Gemsaec analyser is studied in order to argue the precision and the accuracy. The analysis of the reaction rate of a primar standard solution and of different plasmas suggests that a rapid measure is re...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1977-01-01 00:00:00
abstract：:Micro- and nanospheres are tightly associated with the development of flow cytometry. They are indispensable tools to optimize diffraction and fluorescence signals as well as for fluorescence calibration and cellular purification (magnetic micro- and nanospheres). They are also usefull to evaluate phagocytosis and to ...
journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：
更新日期：2004-01-01 00:00:00
abstract：OBJECTIVE:to develop a rapid and reliable real-time PCR to detect polymorphisms of angiotensinogen (AGT), to compare the two methods of MS-PCR (Mutagenically Separated PCR) and real-time PCR to determine three polymorphisms of the angiotensinogen gene M235T, the A (-6) G and A (-20) C. METHODS:the method of real-time ...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2011.0598
更新日期：2011-07-01 00:00:00
abstract：:There is no doubt that the autoimmune process in human disease depends on genetic factors. Varying associations were noticed between HLA DR and autoimmune disorders. The frequency of HLA-A-B and DR antigens as well as the Bf and C4 allotypes have been investigated in insulinodependant diabetes mellitus (IDDM) and comp...
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：: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：: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：: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：:Attention has been drawn in recent years to the diagnostic interest offered by increases in serum gamma GT in the detection of liver metastases and various cancers in man. Although this analysis is not specific and presents a few false positive and negative results, it seems however profitable to include it either in ...
journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：
更新日期：1981-01-01 00:00:00
abstract：:The presence of the R506Q mutation of the factor V gene is associated with an increased risk of thromboembolism, particularly during pregnancy. Recently, its involvement in the development of obstetrical complications, such as preeclampsia and fetal losses, has been evoked. The resulting factor VQ506 (factor V Leiden)...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1998-07-01 00:00:00
abstract：:Bacillus alvei hemolytic toxin has been characterized in five main steps from a 18 hours culture supernatant fluid. 50% ammonium sulfate precipitations are followed by Sephadex gel filtrations. After that we proceed to an isoelectric focusing in a narrow pH gradient (from 4 to 6). A final step consists in a gel filtra...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1977-01-01 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：:Macroprolactin is a complex of prolactin with immunoglobulins (IgG) that has limited or no biological activity in vivo. Immunoassays for prolactin have variable reactivity with macroprolactin. Therefore the presence of macroprolactin should be considered in the differential diagnosis of hyperprolactinemia. We compared...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：2000-11-01 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：: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：:The authors present the interest of electrosyneresis for diagnosis of purulent meningitis. Test material is a study about 120 cerebrospinal fluids. Electrosyneresis sometimes permits to identify the germ when microscopic examination and culture are negative or when microscopy is positive and the culture negative. Appl...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1979-01-01 00:00:00
abstract：:The analytical modifications necessary for adaptation of the SFBC technic for measurement of the activity of TGO method and those obtained by the technic adapted on ABA 100 suggest that the modifications proposed have no influence on the result of the enzyme estimation. The activation of TGO by addition of its coenzym...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1977-01-01 00:00:00
abstract：:A fluorimetric, authomatical method for determination of free and total cholesterol in serum is described. Cholesterol esters are splitted into free cholesterol and fatty acids by cholesterol esterase. In the presence of oxygen free cholesterol will be transformed by cholesterol oxydase in delta 4 cholestenone with fo...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1975-01-01 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：:In chronic renal failure HbA1c values and plasma fructosamine concentrations are difficult to interpret owing to anaemia (for HbA1c) and analytical interferences (for fructosamine test). Plasma proteins glycation was measured more specifically by affinity chromatography. Glycated albumin, glycated immunoglobulins G an...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1990-01-01 00:00:00
abstract：:A diffuse lesion in the alveolar-capillary membrane appears as an initial pathological event which preludes the emergence of an Acute Respiratory Distress (ARDS) with pulmonary oedema. The implication of polymorphous nuclear cells (PMN) as the cells initiating this lesion remains solidly established. The activation of...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1988-01-01 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：: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 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：:The recent development of specific and sensitive biochemical markers reflecting the overall rate of bone formation and bone resorption, has markedly improved the non invasive assessment of bone turnover in various metabolic bone diseases, especially for osteoporosis. The immunoassay of human osteocalcin recognizing th...
journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：
更新日期：1999-03-01 00:00:00
