Abstract：
:Cystic fibrosis (CF) is the most common severe recessive disease in Caucasians. The gene responsible for the disease encodes a protein named cystic fibrosis transmembrane conductance regulator, which is predicted to function as a cAMP-regulated chloride channel. Reduced chloride secretion is at the basis of insufficient hydratation of ductural mucus in the airways, reproductive system and pancreas, leading to progressive obstructive damage. The clinical expression of the disease is heterogeneous but most CF patients typically present with chronic obstructive lung disease, elevated electrolyte concentration in sweat and insufficient pancreatic exocrine function. Approximately 10-15% of CF patients have pancreatic sufficiency, 2 to 5% of patients have liver disease and infertility is present in almost all adult males, due to congenital bilateral absence of the vas deferens, and frequently in females. To date, over 500 mutations have been identified in the CFTR gene. A genotype-phenotype correlation has been observed only with pancreas status, while severity of lung involvement is not clearly related to the CFTR genotype, suggesting that this phenotype might be modulated by additional genetic or environmental factors; liver disease in general is not genetically determined. A large proportion of sterile healthy men with congenital bilateral absence of the vas deferens carry a mutation in at least one of their CFTR genes. The data collected so far suggest that the relationship between the CFTR genotype and the clinical manifestation is multiple and complex.
journal_name
Ann Biol Clin (Paris)journal_title
Annales de biologie cliniqueauthors
Ferrari M,Cremonesi Lsubject
Has Abstractpub_date
1996-01-01 00:00:00pages
235-41issue
6eissn
0003-3898issn
1950-6112journal_volume
54pub_type
杂志文章,评审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：:Premature rupture of the membranes (PROM) is a frequent event affecting 3% of pregnancies. PROM causes 30% of premature deliveries and 20% of perinatal mortality. The diagnosis relies mainly on the clinical visualization of the amniotic fluid flow in the vagina. If not, clinicians can use bedside tests detecting eithe...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2018.1346
更新日期：2018-06-01 00:00:00
abstract：:Urinary ammonium excretion is the best parameter to quantify net acid excretion by the kidney. As measurement of ammonium excretion is not routinely available, clinicians use formulas to estimate NH(4)+ excretion. However, the measurement of urinary NH(4)+ concentration can be performed by an automatically method, whi...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2008.0232
更新日期：2008-07-01 00:00:00
abstract：:The evidence for disturbances of tryptophan and 5-hydroxytryptamine in depression and for various mechanisms by which such disturbances could occur is discussed. Two recent relevant studies in the author's laboratory are described: a) non-esterified fatty acid and total and free tryptophan were determined in plasmas o...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1979-01-01 00:00:00
abstract：:Direct and indirect ion selective electrodes (ISEs) are two methods commonly used in biochemistry laboratories in order to measure the electrolytes such as sodium. In the clinical practice, it's the sodium concentration in plasma water -measured by direct ISE- which is important to consider as it is responsible of wat...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2015.1046
更新日期：2015-05-01 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：: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：: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：:Hemoglobin Alc is the result of non-enzymatic binding of a glucose molecule at the NH2 terminal of the beta chain. Assay of glycosylated hemoglobin is of great utility for the control efficacity of antidiabetic treatments, since such levels provide the clinician with an excellent index of glucose metabolism over the w...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1981-01-01 00:00:00
abstract：:The proliferation of commercial immunoassays for the determination of apolipoproteins AI and B as parameters of risk for coronary heart disease and the discordance between the values obtained with the systems have made more urgent than ever the need for standardization of these assays. The authors report here the resu...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1990-01-01 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：: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：: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：: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：: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：:Α 2 antiplasmin congenital deficiency is an uncommun fibrinolysis disorder that is diagnostics after a post-operative surgery. We report two brothers cases of α 2 antiplasmin deficiency diagnosed after a prostadenomectomy bleeding at two years intervals. ...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2012.0775
更新日期：2013-01-01 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：:Total plasma homocysteine emerged in the past few years as an independent risk factor for cardiovascular diseases. This test is now currently prescribed for the diagnosis of unexplained thrombosis in young adults or recurrent thrombosis in patients with arteriopathy. This sulphured amino-acid is an important intermedi...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：2007-07-01 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：:According to the French legislation on medical biology (January 16th, 2010), all biological laboratories must be accredited according to ISO 15189 for at least 50% of their activities before the end of 2016. The extraction of DNA from a sample of interest, whether solid or liquid is one of the critical steps in molecu...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2013.0891
更新日期：2013-09-01 00:00:00
abstract：:The present importance of streptococcal pathology implicates the identification of the streptococcal groups. The authors have carried out a comparative study of the various methods of extraction of the group specific antigen. They demonstrated the advantages and disadvantages of each method and consider the pronase ex...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1976-01-01 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：:Cytomegalovirus infection is a major problem for transplant recipients. It has been recently shown that the rate of increase in viral load correlate with CMV disease in transplant recipients. The risk is very high in persons undergoing bone marrow transplantation and in some cases preemptive therapy is used as soon as...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：2002-07-01 00:00:00
abstract：:Human hair analysis is now recognized for evaluating someone exposure to xenobiotics: drugs of abuse, pharmaceuticals and polluants. This paper describes analytical methods than can be used by biologists. For drugs of abuse after decontamination, hydrolysis of hair, selective extraction and derivatization, determinati...
journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：
更新日期：1997-09-01 00:00:00
abstract：:Diagnosis of systemic candidiasis is difficult and often performed lately. It can be improved by Candida antigen detection, using agglutination of latex particles sensitized with anti-Candida albicans antibody. Candida antigen search was made in 407 sera obtained from 123 patients, in Hematology and in intensive care ...
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 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：:Horseradish peroxidase is often used as an antibody-coupled enzyme and several procedures have been developed to obtain IgG-peroxidase conjugates. The most widely used are coupling with periodate or glutaraldehyde. To compare the efficiency of these methods, the authors conducted periodate coupling or glutaraldehyde c...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：
更新日期：1995-01-01 00:00:00
abstract：:Adult neutropenia, defined as a blood neutrophil count below 1.5 G/L, is a common condition. The most common cause of acute neutropenia is a drug-related reaction or an acute infectious disease. In chronic forms many etiologies are possible, sometimes poorly-defined, requiring precise explorations. The purpose of this...
journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：10.1684/abc.2018.1393
更新日期：2018-12-01 00:00:00
abstract：:This article aims to place the phosphatidylethanol (PEth) blood test in the detection area of ethanol consumption causing alcohol-related disorders, to present the current methods of analysis, data on interpretation, some practical applications and the prospects of use of this biomarker. PEth is a minor metabolite of ...
journal_title：Annales de biologie clinique
pub_type： 杂志文章,评审
doi：10.1684/abc.2019.1499
更新日期：2019-12-01 00:00:00
abstract：:Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired hematopoietic stem cell disorder that must be correctly diagnose because it is a chronic disease with a real impact on the quality of life and the survival of the patients. PNH screening of all patients with anemia or thrombosis is not recommended. We report...
journal_title：Annales de biologie clinique
pub_type： 杂志文章
doi：10.1684/abc.2017.1277
更新日期：2017-10-01 00:00:00
