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 Respirjournal_title
Revue des maladies respiratoiresauthors
Ferec C,Chabaud JJ,Parent P,Dewitte JD,Verlingue C,Clavier J,Saleun JPsubject
Has Abstractpub_date
1989-01-01 00:00:00pages
45-52issue
1eissn
0761-8425issn
1776-2588journal_volume
6pub_type
杂志文章abstract::Computed tomography is important for the diagnosis and follow-up of chronic diffuse interstitial lung diseases. Image quality has improved from each generation of scanner to the next and this continues to allow a better characterization of extent of pathology, or even the nature of the pathological process (potentiall...
journal_title:Revue des maladies respiratoires
pub_type: 杂志文章,评审
doi:10.1016/j.rmr.2011.04.016
更新日期:2011-12-01 00:00:00
abstract:INTRODUCTION:Pulmonary arterial hypertension is a pulmonary vascular disease with a poor prognosis. Continuous intravenous treatment with prostacyclin analogues requires the placement of a tunnelled catheter. The occurrence of catheter-related infections in this context is unusual due to the alkaline pH of the prostacy...
journal_title:Revue des maladies respiratoires
pub_type: 杂志文章
doi:10.1016/j.rmr.2017.03.037
更新日期:2018-03-01 00:00:00
abstract::We report the results of a retrospective study of a group of 27 patients with a myopathy who were ventilated at home using a nasal mask over a period of 5 years. Twelve patients were ventilated in a preventive fashion before any orthopaedic surgical intervention and 15 out of necessity because of respiratory failure a...
journal_title:Revue des maladies respiratoires
pub_type: 杂志文章
doi:
更新日期:1991-01-01 00:00:00
abstract:INTRODUCTION:The insulin-like growth factor I receptor (IGF-IR) pathway plays a major role in cancer growth, tumor cell survival and resistance to therapy. BACKGROUND:Preclinical evidence that targeting the IGF-IR is effective in cancer treatment has been accumulating for almost 2 decades. Early clinical trials reveal...
journal_title:Revue des maladies respiratoires
pub_type: 杂志文章,评审
doi:10.1016/j.rmr.2010.07.005
更新日期:2010-10-01 00:00:00
abstract:OBJECTIVE:In order to achieve a better definition of the indications for surgical excision of pulmonary metastases in colorectal cancer (CCR), a retrospective study of the eight year survival of patients who had been operated on was carried out with reference to the principal prognostic factors. METHODS AND RESULTS:Be...
journal_title:Revue des maladies respiratoires
pub_type: 杂志文章
doi:
更新日期:1999-11-01 00:00:00
abstract::Extemporaneous examination of a thoracopulmonary lesion has an unquestionable interest when pre-surgical diagnostic workup has not allowed determining its exact nature. This examination, the sole objective of which is to guide the surgical approach, is especially important in lung pathology, due to the limited non-sur...
journal_title:Revue des maladies respiratoires
pub_type: 杂志文章,评审
doi:10.1016/j.rmr.2012.05.002
更新日期:2012-06-01 00:00:00
abstract::We report a study of 8 patients with acute Mycoplasma pneumoniae infection of the respiratory tract admitted to the Army Hospital Desgenettes over a 10 months period. Our clinical observations are compared with a review of the literature. We observed a seasonal outbreak in spring and autumn. This infection was encount...
journal_title:Revue des maladies respiratoires
pub_type: 杂志文章,评审
doi:
更新日期:1994-01-01 00:00:00
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:
更新日期:2000-08-01 00:00:00
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:
更新日期:1999-11-01 00:00:00
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-...
journal_title:Revue des maladies respiratoires
pub_type: 杂志文章
doi:10.1016/j.rmr.2013.05.009
更新日期:2014-01-01 00:00:00
abstract::We reviewed the records of 15 Human Immunodeficiency Virus (HIV) infected patients with pulmonary cryptococcosis (PC). PC was the first AIDS-defining manifestation in nine patients. HIV infection was identified simultaneously with the onset of PC in 4 patients. The CD4+ lymphocyte count was low in all cases (median, 2...
journal_title:Revue des maladies respiratoires
pub_type: 杂志文章
doi:
更新日期:1997-11-01 00:00:00
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:
更新日期:2008-10-01 00:00:00
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...
journal_title:Revue des maladies respiratoires
pub_type: 杂志文章
doi:10.1016/j.rmr.2010.12.005
更新日期:2011-05-01 00:00:00
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:
更新日期:1990-01-01 00:00:00
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
更新日期:2004-12-01 00:00:00
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
pub_type: 杂志文章,评审
doi:10.1016/j.rmr.2012.04.007
更新日期:2012-10-01 00:00:00
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
更新日期:2004-02-01 00:00:00
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:
更新日期:1992-01-01 00:00:00
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
更新日期:2015-10-01 00:00:00
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
doi:10.1016/j.rmr.2010.03.020
更新日期:2010-05-01 00:00:00
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
更新日期:2011-09-01 00:00:00
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:
更新日期:2004-11-01 00:00:00
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
doi:10.1016/s0761-8425(04)71362-5
更新日期:2004-06-01 00:00:00
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...
journal_title:Revue des maladies respiratoires
pub_type: 杂志文章
doi:10.1016/j.rmr.2015.02.004
更新日期:2015-05-01 00:00:00
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
更新日期:2007-03-01 00:00:00
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:
更新日期:1990-01-01 00:00:00
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:
更新日期:1993-01-01 00:00:00
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:
更新日期:1990-01-01 00:00:00
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
更新日期:2016-09-01 00:00:00
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
更新日期:2011-06-01 00:00:00