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 the basis of shape. It is now known that the primum movens of the involved disorders is an increase of the passive leak of the potassium ion. As a consequence, the conditions were redefined according to the perturbations regarding the concentrations and the fluxes of the K+ ion, its companion, the Na+ ion, and the resulting change in red cell hydration. Finally, a genetic classification is dawning. We will consider the best documented conditions which have conserved their initial designation for the time being: hereditary stomacytosis with overhydrated red cells, whose hallmark is misleadingly the nearly complete absence of the protein "stomatin"; familial pseudohyperkalaemia and hereditary stomatocytosis with dehydrated red cells. The two last conditions probably share the same gene, recently mapped to chromsome 16. These disorders are rare, however their recognition suffers no error. Proper diagnosis contra-indicates splenectomy, a sheer paradox as concerned congenital haemolytic anaemias. In addition, the genetic diseases of red cell permeability display patho-physiological mechanisms of paramount interest.
journal_name
Ann Biol Clin (Paris)journal_title
Annales de biologie cliniqueauthors
Delaunay Jsubject
Has Abstractpub_date
1999-07-01 00:00:00pages
383-91issue
4eissn
0003-3898issn
1950-6112journal_volume
57pub_type
杂志文章,评审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：:Cystic fibrosis (CF), is the most common life-shortening autosomal recessive disorder in Caucasians. It is caused by mutations in a single gene on the long arm of chromosome 7 that encodes the cystic fibrosis transmembrane conductance regulator (CFTR) protein. CF is characterized by abnormal Na+ and Cl- ion transport ...
journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：10.1684/abc.2008.0285
更新日期：2008-11-01 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：:In this review, after a brief summary of the spermatogenesis process, we present some genetic causes of male infertility at chromosome and gene level, known at present. Even though knowledge has greatly increased, in 15% of cases, we still do not know the infertility mechanism. The genotype-phenotype relationship rema...
journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：
更新日期：1999-05-01 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
abstract：:43, patients, subjected to cervical cytology, colposcopy and colposcopic directed biopsy, were found to have lesions suggestive of human Papillomavirus (HPV) infection by one or more parameters. Immunohistochemical staining for HPV antigen yielded positive results in 23 (53.5 p. cent) cases. Amongst 30 cases with HPV ...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1989-01-01 00:00:00
abstract：:Today, medical prescriptions of proteinuria or albuminuria, which are depending on medical status of patients, still depend on doctors. Indeed, according to their medical specialty or to the recommendations they are following, they could prescribe either proteinuria or albuminuria. The consequences are practical for l...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2019.1412
更新日期：2019-02-01 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：: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：:We report a turbidimetric procedure, using commercially available reagents, for the determination of plasma fibronectin with an unmodified centrifugal analyser. Fixed-time kinetic readings at 340 nm were taken at 60 and 720 s. A wide range of concentration (up to 1000 mg/l) can be measured. Precision and accuracy were...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1982-01-01 00:00:00
abstract：:The analysis of longitudinal series of tumour markers during chemotherapy in patients with germ cells tumors is not easy. The purpose of this work is to present various characteristic profiles of the evolution of serum human chorionic gonadotropin during chemotherapy and review the modalities of the dynamic interpreta...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2008.0260
更新日期：2008-09-01 00:00:00
abstract：:Evaluation of the neonates for jaundice and kernicterus is indispensable when early hospital discharge has become standard practice. Transcutaneous bilirubin (TcB) measurement is an advantageous option because of its non-invasive nature and the possibility of its use near the patient. The point of care device BiliChec...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：2006-11-01 00:00:00
abstract：:Type 2 diabetes (T2DM) associated with non-alcoholic fatty liver disease (NAFLD) increases cardiovascular risk. Complex and subtle connections are established between hepatic dysfunction and adipose tissue hyperactivity. This relationship is mediated by insulin resistance, dyslipidemia and inflammation. Recently incre...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2019.1436
更新日期：2019-06-01 00:00:00
abstract：:This document is a proposal of questionnaire for a self-assessment of the post-examination phase: results validation, reporting and transmitting, post-examination samples keeping and documents archival storage. The questions allow to check that the laboratory fulfils the ISO 15189 Standard and COFRAC SH REF 02 documen...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2012.0675
更新日期：2012-02-01 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：: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：: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：:This review of the immunological diagnosis of parasitic diseases defines the various indications, the means of collection and preparation, the various levels of specificity and the choice of parasitic antigen which should be used for immuno-diagnosis. The detection and assay of circulating antibodies relies on the tec...
journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：
更新日期：1983-01-01 00:00:00
abstract：:The measurement of CDT (Carbohydrate Deficient Transferrin) is an essential biological tool in the diagnosis and follow-up of alcohol abuse. It is also employed as a marker of abstinence for the restitution of driving licences. However, the precision of measurement, and the between laboratory homogeneity of the result...
journal_title：Annales de biologie clinique
pub_type： 杂志文章,多中心研究
doi：
更新日期：2007-03-01 00:00:00
abstract：:A 58-year-old patient, without any notable medical history, except for alcoholism and treated hypertension, developed anemia and leukopenia with macrocytosis. Folate deficiency was diagnosed and subsequently treated. Despite folate supplementation, the hematological parameters did not normalize. Further diagnosis inve...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2013.0863
更新日期：2013-07-01 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：:Anti-citrullinated cyclic peptide antibodies (ACPA) were initially considered very specific for the diagnosis of rheumatoid arthritis (RA), and can predict the prognosis of the disease. However, these antibodies can be detected in other autoimmune diseases, including systemic lupus erythematosus (SLE), the most common...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2020.1518
更新日期：2020-04-01 00:00:00
abstract：:ATB 32 GN was tested with 279 gram negative non fastidious rods = 188 Enterobacteriaceae and 91 non-enterobacteriaceae. This micro-method included 32 carbon substrate's assimilation tests, read and interpreted automatically after incubation for one or two days at 30 degrees C. 93.5 p. cent of all bacteria are correctl...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1987-01-01 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：: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：:Caveolae are small pockets or invaginations localized at the plasma membrane. They are enriched in glycosphingolipids, cholesterol, sphingomyelin and lipid-enchored membrane proteins, and they are characterized by a light buoyant density and resistance to solubilization by Triton X-100 at 4 C. Caveolins are the princi...
journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：
更新日期：2000-03-01 00:00:00
abstract：:Eight Capnocytophaga infections are described: bacteremia in immunodepressed patients (three cases), endocarditis (one case), pneumopathy (one case), buccal infection (two cases) and endometritis during use of an intrauterine contraceptive device (one case). The role of this bacterium in infections presented by immuno...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1986-01-01 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：:Iron plays a fundamental role in biology and its concentration in living organisms is regulated very precisely. Many molecules of storage and transportation are used to maintain the intracellular homeostasis. Cancer cells have alterations in this balance. Recent studies have shown that breast cancer cells present abno...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2012.0700
更新日期：2012-07-01 00:00:00
abstract：:A growing number of clinical practice guidelines (CPG) is published. This is understandable because CPG are the corner stone in the evaluation of professional practices (EPP). One cannot deny that EPP is necessary. However, in order for the EPP to reach their objectives, which are to use our resources better and to im...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2009.0341
更新日期：2009-07-01 00:00:00
