Abstract：
:The relations between chromosomal diseases and mental retardation can be envisaged in three different ways: 1) Pharmacological approach shows a peculiar sensitivity of the cholinergic system in trisomic 21 children. A trouble in the manufacture of cholinergic mediator is plausible. 2) General biochemistry shows a slight shift of the glycolytic pathway in trisomics 21 as well as some localised abnormalities of amino-acids. 3) Gene mapping allows the localisation of the main responsable genes on band q22. 1 and among them the gene coding for superoxide dismutase 1. Also glutathion peroxidase is elevated. These disparate facts are discussed in the light of a model of the machinery regulating the production of chemical mediators. Comparison with other diseases lead to the hypothesis that rather simple and localised mechanisms could be specially important.
journal_name
Ann Biol Clin (Paris)journal_title
Annales de biologie cliniqueauthors
Lejeune Jsubject
Has Abstractpub_date
1978-01-01 00:00:00pages
121-6issue
2eissn
0003-3898issn
1950-6112journal_volume
36pub_type
杂志文章abstract：:The authors propose a technique of labelling of leukocytes based on the phagocytic power of these cells with regard to sulphide particles in the colloidal state labelled with 90mmTc. These labelled leukocytes maintain their normal function and can be detected in the inflammatory foci created in experimental animals in...
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 diagnosis of double hit lymphoma remains a challenge for the biologist for a good management of the patient. This new category of lymphoma "double hit" (DH) is part of a new entity of the WHO classification 2008: « Unclassifiable B lymphoma with features intermediate between diffuse large cell B lymphoma and Burki...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2016.1189
更新日期：2016-12-01 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：: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：BACKGROUND:Systematic reviews and meta-analyses can help health-care professionals to base their decisions on the highest levels of evidence, and are therefore the cornerstone in practicing evidence-based medicine. In the field of diagnosis in general, and in laboratory medicine in particular, systematic reviews are sc...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：2004-11-01 00:00:00
abstract：:In vitro fertilization (IVF) and embryo transfer (ET) appear to constitute a revolution in the reproductive sciences rather than merely a new technique in the treatment of sterility. Principle of IVF: IVF accomplishes in vitro the process than normally occurs in the oviduct between the ovulation of oocyte II and embry...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1985-01-01 00:00:00
abstract：:Acquired hemophilia A (AHA) is a rare and potentially severe bleeding disorder caused by circulating autoantibodies directed against factor (F) VIII. Apart from idiopathic cases, AHA is associated with autoimmune diseases, cancers, use of medications, pregnancy and the post-partum period. We report the case of a 78-ye...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2018.1405
更新日期：2019-04-01 00:00:00
abstract：:A liquid chromatography procedure for routine determination of urinary estriol concentrations is described. After enzymic hydrolysis of a 1 ml sample, automatic extraction with chloroform/ethyl acetate, purification by chromatography on a disposable "minicolumn" of AG 1-X2, urinary estrogens are separated with normal ...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1981-01-01 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：:Diagnosis of type III hyperlipoproteinemia requires preparative ultracentrifugation in order to measure the cholesterol/triglyceride molar ratio into isolated d less than 1.006 lipoproteins. The authors describe an ultracentrifugation micromethod which needs 600 microliter of serum and can be completed within three ho...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1979-01-01 00:00:00
abstract：:Myoadenylate deaminase deficit (MAD, MIM#615511) is the most common cause of metabolic myopathies with an estimated prevalence of 1-2% in the general population. We report the case of a 39-year-old man suffering from severe skeletal muscle pain that had developed gradually for 4 years. A moderate increase in creatine ...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2017.1253
更新日期：2017-08-01 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
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. Acylcarnitine profile allows the identification and quantification of more than thirty compounds. As part of the accreditation process ...
journal_title：Annales de biologie clinique
pub_type： 杂志文章,实务指引
doi：10.1684/abc.2020.1582
更新日期：2020-10-01 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：:For the reliable urinary measurement of calcium, phosphate and uric acid, a pre-analytical process by adding acid or base to urine samples at laboratory is recommended in order to dissolve precipitated solutes. Several studies on different kind of samples and analysers have previously shown that a such pre-analytical ...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2017.1271
更新日期：2017-10-01 00:00:00
abstract：:We investigated two different freezing protocols on mouse embryos that were either grown in vivo or were grown in vitro for a certain period. Our results confirm that an extended in vitro culture period makes the embryo more susceptible for injury due to freezing and thawing. Furthermore when freezing two cell mouse e...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1987-01-01 00:00:00
abstract：:We retrospectively evaluated measurement data and clinical relevance of autoantibodies to gangliosides in peripheral neuropathies (PN). The IgG and IgM antiganglioside autoantibodies were determined by our own immunodot-blot assay on membrane and by enzyme-linked immunosorbent assay (Elisa) in sera of 1,342 patients w...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1999-09-01 00:00:00
abstract：:The introduction of the CRM 470 in 1993 (certified reference material for 14 serum proteins) and its utilization by industrial companies for cross-calibrating their commercial standards has been an important break-through in protein standardization. This improvement has been clearly illustrated by the last national qu...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1997-01-01 00:00:00
abstract：:Precise identification and determination of MICs of clinical isolates of Acinetobacter identified to other species than the hospital species A. baumannii were carried out. On 260 Acinetobacter strains isolated in an hospital over a 6 months period, 31 strains (12 p. cent) were identified to species other than A. bauma...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1989-01-01 00:00:00
abstract：:Primary cancer of the liver, especially common in inter-tropical Africa and South-East Asia, still remains inaccessible to a really effective therapy, except for a rapid surgical excision. Improvement of its particularly poor prognosis requires therefore early screening based on reliable biological markers. Following ...
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 authors have studied several seric, plasmatic and urinary constituents in patients hospitalized for an acute abdominal syndrome to be able to characterize an eventual pancreatic lesion; mainly seric and urinary amylase as well as its isoenzymes, lipase, liver profile and trypsin. In acute pancreatitis, the means o...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1988-01-01 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：:A group of genetic disorders of the red cell, appearing as congenital haemolytic anaemias, were first described on morphological bases, due mainly to the presence of stomatocytes. It turned out, however, that the alterations of the shape could widely vary, and even be absent, thereby questionning the classification on...
journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：
更新日期：1999-07-01 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：:Direct oral anticoagulants (DAO), anti-IIa or anti-Xa, are intended to be widely used for the treatment and prevention of thrombotic disorders in venous thromboembolic disease and atrial fibrillation as an alternative of vitamin K antagonists (VKA). Despite predictable pharmacological properties, spontaneous or provok...
journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：10.1684/abc.2015.1110
更新日期：2016-01-01 00:00:00
abstract：:The hospital environment is a potential source of microbial contamination. Thus, the magazines in hospital's waiting rooms are handled by patients and visitors whose health and hygiene conditions can vary widely. In this context, we had measured the microbial load on the surface of magazines. Fifteen magazines from 5 ...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2017.1283
更新日期：2017-12-01 00:00:00
abstract：:Therapeutic monitoring of patients participating in methadone maintenance programmes requires the qualitative or quantitative determination of methadone in urine before and during treatment. Generally immunoassay techniques are used for this determination, but more and more often measurement of plasma or serum levels ...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1996-01-01 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：: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：: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 muta...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：2007-11-01 00:00:00
