[Mucoviscidosis: current diagnostic possibilities. Applications in perinatology].

Abstract:

:The gene of cystic fibrosis is localised on the long arm of chromosome 7. DNA probes placed close to the gene enable a study of restriction polymorphism to follow the transmission of the gene in index families. It is now possible to counsel those families, who already have an affected child, with an early antenatal diagnosis at ten weeks after the last period. In our personal experience, based on a study of the genotype of 48 families, 70% were informative when they were studied by two probes corresponding to the local pJ3.11 and met. When the latter probes Km19-XV2c were studied concurrently useful information was achieved in 96%. DNA analysis non enables the detection of the chromosome carrying the deleterious gene in practically every family where there is a child suffering from the disease.

journal_name

Rev Mal Respir

authors

Ferec C,Chabaud JJ,Parent P,Dewitte JD,Verlingue C,Clavier J,Saleun JP

subject

Has Abstract

pub_date

1989-01-01 00:00:00

pages

45-52

issue

1

eissn

0761-8425

issn

1776-2588

journal_volume

6

pub_type

杂志文章
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  • [Tunnelled central venous catheter infection during treatment with epoprostenol].

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    authors: Koszutski M,Faure M,Guillaumot A,Gomez E,Mercy M,Chabot F,Chaouat A

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  • [Prolonged mechanical nasal ventilation. Apropos of 27 case of myopathy].

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    journal_title:Revue des maladies respiratoires

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    doi:

    authors: Rigault JY,Leroy F,Poncey C,Brun J,Mallet JF

    更新日期:1991-01-01 00:00:00

  • [Targeting insulin-like growth factors in the treatment of cancer].

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    authors: Moro-Sibilot D,Coudurier M,Lantuejoul S

    更新日期:2010-10-01 00:00:00

  • [Surgical treatment of pulmonary metastases of colorectal cancers. 8-year survival and main prognostic factors].

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    journal_title:Revue des maladies respiratoires

    pub_type: 杂志文章

    doi:

    authors: Baron O,Hamy A,Roussel JC,Galetta D,al Habash O,Duveau D,Despins P,de Lajartre AY,Michaud JL

    更新日期:1999-11-01 00:00:00

  • [Extemporaneous examination in lung pathology: the pathologist's view].

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    journal_title:Revue des maladies respiratoires

    pub_type: 杂志文章,评审

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    authors: Molinié V,Duchatelle V,Abbey-Tobby A,Balaton A

    更新日期:2012-06-01 00:00:00

  • [Mycoplasma pneumoniae respiratory infections in hospitalized patients].

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    journal_title:Revue des maladies respiratoires

    pub_type: 杂志文章,评审

    doi:

    authors: Devouassoux G,Heyraud JD,Gontier C

    更新日期:1994-01-01 00:00:00

  • [Cystic fibrosis. Fertility and reproduction].

    abstract::Fertility and reproduction are now frequent questions for cystic fibrosis adult patients. Females are sometimes subfertile because of abnormal cervical mucus viscosity or anovulatory cycles. After genetic counseling and evaluation of respiratory prognosis, assisted reproduction can be proposed. Fertility is frequently...

    journal_title:Revue des maladies respiratoires

    pub_type: 杂志文章

    doi:

    authors: Durieu I,Lepercq J,Rigot JM,Boggio D

    更新日期:2000-08-01 00:00:00

  • [Fortuitous discovery of infiltration of the lung bases].

    abstract::We report a case of interstitial pneumonia found by a woman who suffered from a gastroesophageal reflux unamenable to usual treatments. The HR-tomographic discovery of a tone esophagus lead to a manometric study. The association of high autoantibodies levels and radiographic and manometric data were characteristic of ...

    journal_title:Revue des maladies respiratoires

    pub_type: 杂志文章

    doi:

    authors: Depagne C,Nesme P,Pérol M,Guérin JC

    更新日期:1999-11-01 00:00:00

  • [The importance of lung volumes in the investigation of heavy smokers].

    abstract:INTRODUCTION:Lung hyperinflation (LH) has become a major concern in the management of chronic obstructive pulmonary disease (COPD). MAIN AIM:To evaluate the role of lung volumes in the positive diagnosis of COPD and in the assessment of airway obstruction reversibility. POPULATION AND METHODS:Three hundred and sixty-...

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    pub_type: 杂志文章

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    更新日期:2014-01-01 00:00:00

  • [Pulmonary cryptococcosis during HIV infection. 15 cases].

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    journal_title:Revue des maladies respiratoires

    pub_type: 杂志文章

    doi:

    authors: Balloul E,Couderc LJ,Molina JM,Cahite I,Wolff M,Saimot AG,Caubarrère I

    更新日期:1997-11-01 00:00:00

  • [Early-stage NSCLC. The renaissance of radiotherapy in early-stage non-small cell lung cancer].

    abstract::Surgery is the current standard treatment of early-stage non-small cell lung cancer (stage I and II tumors). Contrary to adjuvant chemotherapy, which was recently demonstrated to decrease systemic tumor recurrences as well as increasing overall survival, postoperative radiotherapy did not benefit from an actualized ev...

    journal_title:Revue des maladies respiratoires

    pub_type: 杂志文章

    doi:

    authors: Girard N,Mornex F

    更新日期:2008-10-01 00:00:00

  • [Congenital bronchial atresia in adults].

    abstract::Congenital bronchial atresia is a rare congenital obliteration of a segmental or lobar bronchus resulting in distension of the corresponding parenchyma. It is seldom diagnosed in the adult. It may lead to infectious complications and, in the long term, to damage to the adjacent lung parenchyma. A surgical resection is...

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    pub_type: 杂志文章

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    authors: Zribi H,Brian E,Lenoir S,Validire P,Gossot D

    更新日期:2011-05-01 00:00:00

  • [Long-term outcome of surgically treated bullous emphysema].

    abstract::The long term outcome for 88 patients with bullous emphysema who had operations was analysed from the clinical, respiratory function and occupational point of view. In order to reduce to the minimum any bias which would be likely to appear as a result of a decrease in the number of patients with time respiratory funct...

    journal_title:Revue des maladies respiratoires

    pub_type: 杂志文章

    doi:

    authors: Roeslin N,Chakfe N,Witz JP

    更新日期:1990-01-01 00:00:00

  • [VENT: International study of bronchoscopic lung volume reduction as a palliative treatment for emphysema].

    abstract:BACKGROUND:Therapeutic options for patients with severe emphysema remain limited. In selected patients, lung volume reduction surgery has been shown to improve pulmonary function, exercise capacity, quality of life and also survival. The technique of inserting one-way valves endoscopically into the airways supplying th...

    journal_title:Revue des maladies respiratoires

    pub_type: 临床试验,杂志文章,多中心研究,随机对照试验

    doi:10.1016/s0761-8425(04)71590-9

    authors: Leroy S,Marquette CH

    更新日期:2004-12-01 00:00:00

  • [Smoking and active tuberculosis].

    abstract::The link between tuberculosis and HIV infection has long been established but the link between tuberculosis and smoking is not well understood. However, many patients with tuberculosis are smokers and an increasing proportion of them live in developing countries where there is a high incidence of the disease. Smoking ...

    journal_title:Revue des maladies respiratoires

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    更新日期:2012-10-01 00:00:00

  • [What perception have smokers of nicotine and tar yields of cigarettes?].

    abstract:INTRODUCTION:Advertising information on cigarette package participate to the reduction of health risks from smoking. Impact on smokers has been poorly studied. This study intended to determine the smoker perception of nicotine and tar yields of cigarettes. METHODS:Consulting in an outpatient smoking cessation clinic, ...

    journal_title:Revue des maladies respiratoires

    pub_type: 杂志文章

    doi:10.1016/s0761-8425(04)71237-1

    authors: Plantin-Carrenard E,Jacob N,Foglietti MJ,Derenne JP,de Lhomme G

    更新日期:2004-02-01 00:00:00

  • [Significance of the level of carcinoembryonic antigen in the alveolar lavage fluid in cancerous and non-cancerous bronchopulmonary pathology].

    abstract::In a prospective study the level of carcinoembryonic antigen (ACE) were simultaneously measured in plasma and bronchoalveolar lavage liquid (LBA), in fifteen patients suffering from bronchopulmonary cancer and fifteen patients suffering from non-malignant pulmonary disease. In these two groups the level of ACE in LBA ...

    journal_title:Revue des maladies respiratoires

    pub_type: 杂志文章

    doi:

    authors: Menard O,Dousset B,Jacob C,Anthoine D,Martinet Y

    更新日期:1992-01-01 00:00:00

  • [Urine antigen testing: Indication and contribution to the treatment of community-acquired pneumonia].

    abstract::Urinary antigen tests are quick and simple tests helping to provide an etiological diagnosis in community-acquired pneumonia. However, their prescription is sometimes excessive and performed in unjustified situations. The therapeutic benefit is limited. Indeed, studies show that appropriate antibiotic therapy based on...

    journal_title:Revue des maladies respiratoires

    pub_type: 杂志文章,评审

    doi:10.1016/j.rmr.2015.06.004

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    更新日期:2015-10-01 00:00:00

  • [The VQ11, a short health-related quality of life questionnaire for routine practice in COPD patients].

    abstract:OBJECTIVE:The management of COPD aims to improve integrated indices such as health-related quality of life (HRQoL). Experts recommend repeated and methodical assessment of HRQoL, particularly by the use of questionnaires. Though these tools give pertinent information for groups of patients, they have limitations in des...

    journal_title:Revue des maladies respiratoires

    pub_type: 杂志文章

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    更新日期:2010-05-01 00:00:00

  • [Erasmus' syndrome with pseudo-tumour masses].

    abstract:INTRODUCTION:Erasmus' syndrome involves the association of systemic scleroderma (SS) and exposure to silica. Silicosis may precede the SS but the latter may be the presentation, in which case a history of exposure to silica should be sought as part of the diagnosis. CASE REPORT:A 46-year-old man with history of pulmon...

    journal_title:Revue des maladies respiratoires

    pub_type: 杂志文章,评审

    doi:10.1016/j.rmr.2011.06.003

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    更新日期:2011-09-01 00:00:00

  • [Primary lung cancer in elderly subjects in France].

    abstract:INTRODUCTION:There are few data on primary bronchial carcinoma in France. We report here the results of the study KBP 2000-CPHG in which there were 1868 patients aged 70 or more and 338 aged 80 or more. METHODS:We compared the patients under 70 (Group I) with those aged 70 or more (Group II) as well as with the detail...

    journal_title:Revue des maladies respiratoires

    pub_type: 杂志文章

    doi:

    authors: Piquet J,Blanchon F,Grivaux M,Collon T,Zureik M,Barbieux H,Bénichou-Flurin M,Breton JL,Coëtmeur D,Delclaux B,Braun D,Homasson JP,Mouysset F,Riou R,le Poulain-Doubliez M,Marsal L,CPHG.

    更新日期:2004-11-01 00:00:00

  • [Effects of home pulmonary rehabilitation in patients with chronic respiratory failure and nutritional depletion].

    abstract:STATE OF THE ART:The IRAD2 trial is evaluating a 3-month home intervention which includes education, oral supplements, exercise and androgenic steroids in undernourished patients with chronic respiratory failure. The main objective is to increase the six-minute walking distance by more than 50 m with an improvement in ...

    journal_title:Revue des maladies respiratoires

    pub_type: 临床试验,杂志文章,多中心研究,随机对照试验

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    authors: Pison C,Cano N,Chérion C,Roth H,Pichard C,Investigateurs D'IRAD2.

    更新日期:2004-06-01 00:00:00

  • [Influence of chest physiotherapy on gastro-œsophageal reflux in children].

    abstract:INTRODUCTION:Chest physiotherapy is regularly prescribed for children, particularly in cystic fibrosis. Gastro-oesophageal reflux is common in this disease and is associated with certain chest physiotherapy manoeuvres. AIM OF THE STUDY:To evaluate the influence of two chest physiotherapy techniques on gastro-oesophage...

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    pub_type: 杂志文章

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    更新日期:2015-05-01 00:00:00

  • [Which definition to use when defining airflow obstruction?].

    abstract:INTRODUCTION:There is no clear consensus as to what constitutes an obstructive ventilatory defect (OVD). According to the American Thoracic Society and European Respiratory Society, it is defined as being when the ratio of the forced expiratory volume (FEV1) and the slow expiratory vital capacity (VC) is below the lowe...

    journal_title:Revue des maladies respiratoires

    pub_type: 杂志文章

    doi:10.1016/s0761-8425(07)91064-5

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    更新日期:2007-03-01 00:00:00

  • [Multiple basocellular epitheliomas of the back after repeated radiologic tests].

    abstract::The authors report the observation of multiple epitheliomas of the back in a patient submitted to numerous radiological examination forty years earlier. They recall the likely risk of the appearance of these cutaneous tumours after this type of exposure. ...

    journal_title:Revue des maladies respiratoires

    pub_type: 杂志文章

    doi:

    authors: Lulin J,Laidet B,Fur JL,Lezoraine C,Quere O,Rivoallan N

    更新日期:1990-01-01 00:00:00

  • [Chronic atrophic polychondritis. Clinical polymorphism and severity of respiratory lesions].

    abstract::The authors report the case of chronic destructive polychondritis (PCA) with extensive and predominant laryngo-tracheal involvement. The respiratory localisation of PCA is apparent in around 50% of cases. In a quarter of patients presenting with this type of localisation, the outcome is fatal. Tracheal disorders as th...

    journal_title:Revue des maladies respiratoires

    pub_type: 杂志文章

    doi:

    authors: Astoul P,Quenee V,Doucet V,Vialette JP,Boutin C

    更新日期:1993-01-01 00:00:00

  • [Vasodilator agents in pulmonary artery hypertension of systemic scleroderma].

    abstract::An acute haemodynamic study was carried out prospectively in 6 patients fulfilling the diagnostic criteria of systemic sclerosis with pulmonary arterial hypertension. This study consisted of 7 baseline measurements and the effect of 6 drugs administered intravenously and known for their effects as vasodilators in the ...

    journal_title:Revue des maladies respiratoires

    pub_type: 杂志文章

    doi:

    authors: Phlippoteau C,Brenot F,Blétry O,Simmonneau G,Duroux P

    更新日期:1990-01-01 00:00:00

  • [Alpha-1 antitrypsin deficiency caused by Null mutation].

    abstract:INTRODUCTION:Alpha-1 antitrypsin deficiency is a hereditary disease defined at the biological level by a serum alpha-1 antitrypsin level below 11μM/L. The null variants are characterized by undetectable circulating alpha-1 antitrypsin levels. Suspicion of a null variant requires the use of appropriate diagnostic techni...

    journal_title:Revue des maladies respiratoires

    pub_type: 杂志文章

    doi:10.1016/j.rmr.2015.10.007

    authors: Perrin J,Aimone-Gastin I,Balduyck M,Mercy M,Filhine-Trésarrieu P,Odou MF,Chaouat A,Chabot F

    更新日期:2016-09-01 00:00:00

  • [Diagnosis of pulmonary embolism].

    abstract::Nowadays the diagnosis of pulmonary embolism (PE) is based on a "diagnostic strategy" rather than a single test. The first step, after identifying patients with suspicion of PE, is to establish the pre-test clinical probability. Several scores are available to make a standardised and reproducible assessment of the cli...

    journal_title:Revue des maladies respiratoires

    pub_type: 杂志文章,评审

    doi:10.1016/j.rmr.2010.10.039

    authors: Robert-Ebadi H,Righini M

    更新日期:2011-06-01 00:00:00