Health-related quality of life in patients with alpha-1 antitrypsin deficiency: the French experience.

The French registry of patients with alpha-1 antitrypsin deficiency (AATD)-associated emphysema was launched in 2006. Here, we aimed to report on the baseline characteristics of these patients, their health-related quality of life (HRQoL) and factors associated with HRQoL. Another goal was to survey the practices of French physicians regarding augmentation therapy.

Performance of the BODE index in patients with α1-antitrypsin deficiency-related COPD.

The BODE (body mass index, airflow obstruction, dyspnoea and exercise capacity) index is used to decide on referral and transplantation of patients with chronic obstructive pulmonary disease (COPD). The BODE index has not been validated in patients with α1-antitrypsin deficiency, who account for 15% of COPD patients undergoing lung transplantation. We sought to validate the BODE index in α1-antitrypsin deficiency-related COPD.

[Skin sensitisation profiles of outpatients with symptoms of respiratory allergies].

Aim: The main objective of the survey was to determine the frequency of the mono and polysensitizations in patients consulting for respiratory allergy, rhinitis or/and asthma. The secondary objectives were to evaluate the severity, the number and the type of the sensitizations, the frequency of the asthma or rhinitis as a function of the sensitizations, the evolution of the sensitizations with age, and identify the principal responsible pneumallergens.

Patients And Methods: The multicentric survey included a patient questionnaire allowing the collection and anonymous treatment of data on socio-demographic characteristics, clinical symptoms, cutaneous tests and sensitizations.

[Augmentation therapy with alpha-1 antitrypsin: 20 year- follow-up of a deficient patient].

Introduction: Alpha one antitrypsin deficiency is a rare genetic disorder occurring principally in patients with the PiZZ phenotype. This deficiency can lead to pulmonary emphysema which impairs quality of life and which may progress to respiratory failure. The diagnosis is based on the presence of emphysema typically with a basal preponderance and airflow obstruction and is confirmed by measuring A1AT levels.

Tail clamp responses in stomatin knockout mice compared with mobility assays in Caenorhabditis elegans during exposure to diethyl ether, halothane, and isoflurane.

Background: The gene unc-1 plays a central role in determining volatile anesthetic sensitivity in Caenorhabditis elegans. Because different unc-1 alleles cause strikingly different phenotypes in different volatile anesthetics, the UNC-1 protein is a candidate to directly interact with volatile anesthetics. UNC-1 is a close homologue of the mammalian protein stomatin, for which a mouse knockout was recently constructed.

Levocetirizine in children: evidenced efficacy and safety in a 6-week randomized seasonal allergic rhinitis trial.

Studies evaluating newer antihistamines in children are few. Levocetirizine is a potent and highly selective H1-antihistamine with a proven efficacy in adults. Primary objective was to assess the efficacy of levocetirizine 5 mg once-daily in reducing seasonal allergic rhinitis (SAR) symptoms, as measured by Total Four Symptom Score (T4SS = sum of sneezing, rhinorrhea, nasal and ocular pruritus), over the first 2 wk of treatment.

Diffuse infiltrative lung disease associated with flecainide. Report of two cases.

We present two patients who developed subacute diffuse infiltrative lung disease while receiving flecainide for supraventricular arrhythmia. They had bilateral subpleural lung opacities on computed tomography. Bronchoalveolar lavage revealed increased numbers of lymphocytes and eosinophils, and a low CD4/CD8 ratio.

Frequency of prenatal diagnosis of birth defects in Houston, Galveston and the Lower Rio Grande Valley, Texas 1995.

Background: Estimates of the proportion of birth defects diagnosed before birth exist for only a few types of birth defects and for a few geographic regions in the United States. This population-based study examines rates of prenatal diagnosis for previously unstudied birth defects in a new geographic region.

Methods: Active surveillance of 23 categories of birth defects among 111,902 infants born in 77 birthing hospitals in Texas in 1995 identified 852 infants or fetuses with major birth defects.

High levels of cytokeratin 19 fragments but no evidence of cytokeratins 1, 2, 10/11, 14 or filaggrin in the serum of squamous cell lung carcinoma patients.

The CYFRA 21-1 assay detects circulating fragments of cytokeratin 19, which is a sensitive marker for the diagnosis of lung cancers, particularly squamous cell carcinomas and adenocarcinomas. Epidermis-type proteins, such as cytokeratins 1, 2, 10/11 and 14 or filaggrin, are also expressed in squamous cell carcinomas. These could also be pertinent tumor markers, ideally as sensitive as CYFRA 21-1 and more specific for squamous cell lung cancer.

Evaluation of seven tumour markers in pleural fluid for the diagnosis of malignant effusions.

Carcinoembryonic antigen (CEA), carbohydrate antigens 15-3, 19-9 and 72-4 (CA 15-3, CA 19-9 and CA 72-4), cytokeratin 19 fragments (CYFRA 21-1), neuron-specific enolase (NSE) and squamous cell carcinoma antigen (SCC) were evaluated in pleural fluid for the diagnosis of malignant effusions. With a specificity of 99%, determined in a series of 121 benign effusions, the best individual diagnostic sensitivities in the whole series of 215 malignant effusions or in the subgroup of adenocarcinomas were observed with CEA, CA 15-3 and CA 72-4. As expected, a high sensitivity was obtained with SCC in squamous cell carcinomas and with NSE in small-cell lung carcinomas.

[Recurrent pneumopathy of the middle lobe...].

We report a case of a persistent middle-lobar pneumonia, which did not respond to antibiotics. Only a second bronchial endoscopy, with a third thoracic densitometry and histopathological results give the final diagnostic of tracheobronchial foreign body. The choking history happened more than 10 months before.

[Respiratory complications of the vinorelbine-mitomycin combination].

The respiratory toxicity of vinca alkaloids only appears when they are associated with mitomycin. Few reports have been noted with vinorelbine, the last molecule of this class. We report 4 cases of acute dyspnea induced by the association mitomycin-vinorelbin, The 4 patients were treated for lung cancer.

[Respiratory variant of constrictive pericarditis. Report of 4 cases].

Constrictive pericarditis was diagnosed in four patients who presented respiratory impairment and pleural effusion, associated with right ventricular failure in two. The cause was probable tuberculosis in two cases, post-irradiation lesions in one and unknown in one. The diagnosis was suspected due to the normal heart volume and pathological electrocardiogram as well as the computed tomographic findings demonstrating pericardial morphology.

Evaluation of pleural CYFRA 21-1 and carcinoembryonic antigen in the diagnosis of malignant pleural effusions.

CYFRA 21-1 assay, measuring cytokeratin 19 fragments, was compared with carcinoembryonic antigen (CEA) assay, as an addition to cytological analysis for the diagnosis of malignant effusions. Both markers were determined with commercial enzyme immunoassays in pleural fluid from 196 patients. Cytological analysis and/or pleural biopsy confirmed the malignant origin of the effusion in 99 patients (76 carcinomas, nine pleural mesotheliomas and 14 non-epithelial malignancies).

Plasma DNA as a marker of cancerous cell death. Investigations in patients suffering from lung cancer and in nude mice bearing human tumours.

Plasma DNA that circulates mainly as mononucleosomes is a cell death marker. Its significance and prognostic value in cancer as compared to other tumour markers was investigated in 68 patients hospitalised for lung cancers. Prognostic values of the various studied parameters were evaluated using the Cox's model.

[Alveolar opacities and busulfan pneumonia].

A case of toxic pneumonia due to busulfan is reported in a man aged 65 treated for three years with busulfan for chronic myeloid leukaemia. He was admitted to hospital for dyspnoea, cough, fever and presented with crepitations, dense alveolar opacities, and a restrictive ventilatory defect. Trans-bronchial biopsy showed a filling of the alveoli by fibroblastic tissue, as well as voluminous dystrophic pneumocytes.

Clinical pharmacokinetics of alpha 1-antitrypsin in homozygous PiZ deficient patients.

A pharmacokinetic study of alpha 1-antitrypsin (ATT) was performed in 2 groups of homozygous PiZ-deficient patients (treated and untreated) and 1 group of healthy volunteers. The distribution of the 131I-labelled protein corresponds to a 3-compartment model. The intravenously administered protein diffused quickly to the extravascular compartment where some retention occurred.

[Evaluation after 2 years of substitutive treatment of PiZZ emphysema with alpha-1 antitrypsin. 9 cases].

Homozygous PiZZ individuals with a serum deficiency due to a defect in the secretion of the alpha 1-antitrypsin protein are at risk of developing severe panlobular emphysema. Tobacco smokers are particularly exposed to the disease which begins at an earlier age. Treatment by substitutive therapy with alpha 1-antitrypsin concentrates seems to be the only possibility.