[Genetic diffuse cystic lung disease in adults]. / Maladies kystiques pulmonaires de l'adulte d'origine génétique.

Multiple cystic lung diseases comprise a wide range of various diseases, some of them of genetic origin. Lymphangioleiomyomatosis (LAM) is a disease occurring almost exclusively in women, sporadically or in association with tuberous sclerosis complex (TSC). Patients with LAM present with lymphatic complications, renal angiomyolipomas and cystic lung disease responsible for spontaneous pneumothoraces and progressive respiratory insufficiency. TSC and LAM have been ascribed to mutations in TSC1 or TSC2 genes. Patients with TSC are variably affected by cutaneous, cognitive and neuropsychiatric manifestations, epilepsy, cerebral and renal tumors, usually of benign nature. Birt-Hogg-Dubé syndrome is caused by mutations in FLCN encoding folliculin. This syndrome includes lung cysts of basal predominance, cutaneous fibrofolliculomas and various renal tumors. The main complications are spontaneous pneumothoraces and renal tumors requiring systematic screening. The mammalian target of rapamycin (mTOR) pathway is involved in the pathophysiology of TSC, sporadic LAM and Birt-Hogg-Dubé syndrome. MTOR inhibitors are used in LAM and in TSC while Birt-Hogg-Dubé syndrome does not progress towards chronic respiratory failure. Future challenges in these often under-recognized diseases include the need to reduce the delay to diagnosis, and to develop potentially curative treatments. In France, physicians can seek help from the network of reference centers for the diagnosis and management of rare pulmonary diseases.

Persistent airflow obstruction in asthma of patients with Churg-Strauss syndrome and long-term follow-up.

BACKGROUND: Little is known about the long-term outcome of airflow obstruction in asthma of patients with Churg-Strauss syndrome (CSS). METHODS: We conducted a retrospective study of 24 consecutive patients (aged 41.1 +/- 13.5 years) with CSS in a single center. All had asthma (starting 8.1 +/- 9.5 years prior to the diagnosis of CSS), blood eosinophilia (6.1 +/- 4.4 x 10(9)/l) and systemic manifestations of CSS. Antineutrophil cytoplasmic antibodies were found in 7 of 22 tested patients. Seven patients had smoked (a mean of 10 pack-years). All patients received oral corticosteroids, 11 cyclophosphamide and 23 inhaled corticosteroids. RESULTS: Airflow obstruction was found in 14 patients (70%) at diagnosis, and in 11 of 22 patients (50%) at the time of the clinical remission of CSS. The mean postbronchodilator FEV1/FVC and FEV1 were 69 +/- 12% and 74 +/- 21% of predicted at diagnosis (n = 20); 71 +/- 10% and 92 +/- 19% of predicted at the clinical remission (n = 22); and 64 +/- 13% and 80 +/- 21% at last visit (n = 13), respectively. During follow-up, postbronchodilator FEV1 increased by 30 +/- 28% in six patients with FEV1/FVC < 70% despite inhaled therapy who received higher dose of oral corticosteroids. At last visit, 5 of 13 patients (38%) with more than 3 years of follow-up had persistent airflow obstruction as defined by postbronchodilator FEV1/FVC < 70% and FEV1 < 80% of predicted. CONCLUSION: Airflow obstruction due to uncontrolled asthma is present despite corticosteroids in many patients at diagnosis and at clinical remission of CSS, and during follow-up. It may be still partly reversible with increased oral corticosteroid treatment.

Sarcoidosis and the kidney: not only the granulomatous interstitial nephritis.

Renal involvement in sarcoidosis displays a wide range of manifestations, and kidney dysfunction may involve all three mechanisms of renal failure. We report a new case of systemic sarcoidosis presenting as a severe renal failure due to hypercalcemia, sarcoidosis-related bilateral nephrolithiasis and granulomatous interstitial nephritis. A prostate adenocarcinoma was also diagnosed, but has to be regarded as an unrelated disease.

Noninvasive ventilation using a mouthpiece in patients with chronic obstructive pulmonary disease and acute respiratory failure.

BACKGROUND: Noninvasive positive pressure ventilation (NPPV) delivered via a mouthpiece (mNPPV) has been successfully used in stable chronic restrictive respiratory insufficiency, but not in patients with chronic obstructive pulmonary disease (COPD) and acute respiratory failure (ARF). OBJECTIVES: The purpose of this matched case-control study was to compare the usefulness of mNPPV to noninvasive ventilation using a nasal or oronasal mask (nNPPV) or standard medical treatment (SMT) in COPD patients with ARF. METHODS: Twenty-nine patients receiving mNPPV were matched with 29 patients receiving nNPPV and 29 patients receiving SMT regarding age, SAPSII, admission PaCO(2) and pH. RESULTS: In the mNPPV group, admission PaCO(2) and pH were 78.6 +/- 12 mm Hg and 7.30 +/- 0.04, respectively. mNPPV and nNPPV avoided the need for endotracheal intubation in 27 and 25 patients, respectively (nonsignificant) whereas SMT resulted in a higher mechanical ventilation rate (13 patients). At the end of the treatment protocol, PaCO(2) was lower in the mNPPV group (62.2 +/- 9.6 mm Hg) than in the SMT group (72.4 +/- 20.4 mm Hg, p < 0.018) leading to a significantly higher pH. No significant differences were observed between the mNPPV and nNPPV groups. CONCLUSIONS: In case of moderate respiratory acidosis, noninvasive ventilation using a mouthpiece significantly reduces the endotracheal intubation rate in comparison with SMT and therefore appears to be a second-line alternative to noninvasive ventilation delivered via a mask, especially when poorly tolerated.

[Results of an ambulatory respiratory rehabilitation program: observations in 100 COPD patients]. / Résultats d'un programme de réhabilitation respiratoire en mode ambulatoire chez 100 patients atteints de broncho-pneumopathie chronique obstructive.

INTRODUCTION: Respiratory rehabilitation is a multidisciplinary approach enabling personalized management adapted for each patient's handicap. METHOD: Our ambulatory program includes twenty sessions per week (four half-days/week) for respiratory training at the ventilatory threshold, respiratory physical therapy, and health education. One hundred COPD patients participated in this retrospective study: mean age 62.1 +/- 9.6 years; FEV1: 1.51 +/- 0.66 (53 +/- 22% of theoretical). RESULTS: At the ventilatory threshold, there was a significant 9% gain in oxygen uptake and a 31% gain in power. At maximal exercise, there was a 6% improvement in oxygen uptake, 21% gain in power, and 7% gain in tidal volume (p<0.05). Walking distance improved 15% (+ 61 m). Quality of life was also improved significantly, with loss of 8 points on the Saint-George's Hospital respiratory questionnaire. CONCLUSION: This study demonstrates the beneficial effect of respiratory rehabilitation in terms of improved tolerance to exercise and improved quality of life for COPD patients.

Utility of blood cultures in community-acquired pneumonia requiring hospitalization: influence of antibiotic treatment before admission.

It has been previously shown that antibiotics given before hospitalization significantly reduce the proportion of positive blood cultures in community-acquired pneumonia (CAP). The aim of this prospective study was to compare the utility and cost-benefits of blood cultures in patients, hospitalized for moderate CAP, who had or had not received antibiotic therapy prior to admission. During 1 year, 53 patients were included and separated into two groups: group 1 patients had not received antibiotic treatment prior to admission (n = 30), whereas group 2 patients had been treated with antibiotics (n = 23). Within the first 48 hours, a set of blood cultures was collected if the body temperature was higher than 38.5 degrees C or in the case of shaking chills. A total of 136 blood cultures was collected; 74 in group 1 and 62 in group 2. Bacteraemia was significantly more frequent in group 1 than in group 2, 5/30 patients vs. 0/23, respectively (P < 0.05). The cost of negative blood cultures was valued at 13,939.2 FF in group 1 and 13,164.8 FF in group 2, respectively 464.6 +/- 244.3 FF and 569.3 +/- 233.4 FF per patient (n.s.). Moreover, blood cultures were the method of diagnosis in only one of the five patients with bacteraemia and in no case did a positive blood-culture result influence the initial therapeutic regime. Thus, our results suggest a reduced clinical utility and cost-benefit of blood cultures in patients hospitalized for moderate CAP who have received an antibiotic treatment prior to admission.

Diaphragm compound muscle action potential measured with magnetic stimulation and chest wall surface electrodes.

To seek a method to reliably measure phrenic nerve conduction time (PNCT) with magnetic stimulation we investigated two stimulus sites, placing the magnetic coil at the cricoid cartilage (high position) or close to the clavicle (low position). We also compared compound muscle action potential (CMAP) recorded from three different sites: in the sixth to eighth intercostal spaces in the anterior axillary line (Ant-a); in the 8th intercostal space close to the midclavicular line; and with one electrode at the lower sternum and the other at the costal margin. Fourteen normal subjects were studied. The PNCT measured by magnetic stimulation in the high position recorded from (Ant-a) was 7.6+/-0.6 on the left side and 8.4+/-0.7 on the right. The PNCT recorded from all three sites become much shorter when the magnetic coil was moved from the high to the low position. Our results show that PNCT can be accurately measured with magnetic stimulation when care is taken to avoid coactivation of the brachial plexus.

[Intensive care and respiratory sleep disorders]. / Réanimation et troubles respiratoires du sommeil.

The study of respiratory sleep disorders in intensive care is a developing field. Indeed sleep pathology concerns not only pneumologists and neurophysiologists but also numerous specialties including medicosurgical resuscitation. The advent of "portable" appliances should facilitate access to polysomnography (PSG) for diagnosis of sleep respiratory disorders (RDS) in the intensive care unit. This examination can be appropriate in two separate circumstances. RDS in life-threatening situations (generally respiratory and/or cardiac failure) or when RDS is worsened by the specific conditions of intensive care units: "intensive care-induced RDS". In both cases, easy diagnosis of RDS by PSG allows adjustment of the treatment (corrections of iatrogenic factors, continuous positive airway pressure [CPAP], noninvasive ventilation [NIV], oxygen [O2]. A specific treatment of the well documented RDS is most desirable, as the patients are considered to be at high risk for endotracheal intubation. If diagnosis of RDS is not made during the acute phase, the intensive care physician should be informed of the clinical and paraclinical elements leading to prescription of a delayed polysomnography in order to reduce the risk of further vital distress.

[Pulmonary embolism and sibilant types of chronic obstructive pulmonary disease decompensations]. / Embolie pulmonaire et formes sibilantes des décompensations de bronchopneumopathie chronique obstructive.

Pulmonary Embolism (PE) poses an important diagnostic problem in patients with chronic obstructive pulmonary disease (COPD). Indeed PE may aggravate the already precarious respiratory state of these fragile patients. Moreover, these two conditions share common symptoms: dyspnoea, wheezing, pleural pain, haemoptysis, palpitations and signs of right cardiac insufficiency. In two studies, one retrospective and the other prospective, we investigated the incidence of PE in patients with non-infective exacerbations of their COPD. The retrospective study was carried out over two years and involved 50 COPD patients with non-infective respiratory exacerbations. In this population, 10 patients out of 50 (20%) had a documented PE. No predictive factor was identified. The prospective study was conducted over one year and COPD patients admitted to hospital with exacerbations were included in the study if they had a positive D-dimer blood test and no evidence of acute respiratory infection. 31 patients were studied with Doppler ultra-sound examination of the legs and a lung perfusion scan. The presence or absence of PE was determined and the two groups were compared. 9 patients out of 31 (29%) had a documented PE. Six of these nine patients had a deep venous thrombosis (DVT). Two predictive factors of PE were identified: existence of a DVT and a significant fall in PaO(2) from baseline state (DeltaPaO(2) > 22 mmHg). We conclude that PE is a frequent (20 to 30%) of non-infective respiratory decompensation in COPD patients. Faced with an unexplained respiratory exacerbation in these patients, a lung perfusion scan should be routinely undertaken to rule out a PE when the D-dimers are positive.

[Traumatic pulmonary pseudocysts. Mechanisms of formation]. / Les pseudokystes pulmonaires traumatiques. Mécanismes de formation.

Pulmonary pseudocysts (PPC) classically relate to chest trauma. It is a rare entity in adults, with multiple differential diagnosis. PPC most often evolve favorably. The clinical diagnosis is difficult to assess due to the poor and non specific clinical data. Chest radiographs are usually unsufficient for the diagnosis and the imaging modality of choice is computed tomography (CT). CT patterns of PPC relate to single or numerous cavities surrounded by air space consolidations. The physiopathological mechanisms of PPC remains uncertain. The histological study of this reported case affords some worth data to highlight the pathogenesis of this acquired abnormality.

[Spontaneous rupture of the esophagus or Boerhaave syndrome. Report of 3 cases and review of the literature]. / La rupture spontanée de l'oesophage ou syndrome de Boerhaave. A propos de trois cas et revue de la littérature.

A triad of signs constitutes Boerhaave syndrome: forceful vomiting, chest pain and subcutaneous emphysema. The syndrome results from spontaneous rupture of the oesophageal wall leading to an oeso-pleural or oeso-mediastinal fistula. Positive diagnosis is established with a water-soluble swallow, sometimes coupled with computed tomography of the thorax. Boerhaave syndrome is a surgical emergency. We report three cases of spontaneous rupture of the oesophagus and analyze the importance of emergency surgery as well as emergency treatment of the sepsis, an important prognosis factor.

[Uncommon site of Bergeyella zoohelcum. Apropos of a case]. / Une localisation inhabituelle de Bergeyella Zoohelcum. A propos d'un cas.

Bergeyella zoohelcum is a Gram negative bacillus which can be found in several pathological localizations in man: leg abscesses, septicemia, meningitis. We observed a case of community-acquired pneumonia caused by Bergeyella zoohelcum. On history taking it was found that the patient was exposed to a dog which may have been the carrier of the Gram negative bacilli. The clinical course was long, one year, with persistent excavation.

Diaphragm electromyograms recorded from multiple surface electrodes following magnetic stimulation.

The diaphragm compound-muscle action potential (CMAPdi), elicited by unilateral magnetic stimulation (UMS) of the phrenic nerve can be recorded using surface electrodes. However, there is no consensus on the best positioning of surface electrodes and there are no data on the reproducibility of the signal. Using 36 surface electrode pairs, in five healthy subjects, the CMAPdi elicited by UMS and electrical stimulation (ES) were compared and 12 pairs were identified as providing acceptable signals. The latency and amplitude were measured for each CMAPdi, following UMS at 60-100% of maximal stimulator output, in 12 healthy subjects, on two occasions. Latencies obtained using UMS and ES ranged between 6.1-7.33 and 6.25-7.17 ms, respectively. Optimum CMAPdi were not recorded from the same electrode pair in all subjects, or for both hemidiaphragms in each subject. However, the optimal recording site for a particular individual remained unchanged on subsequent testing. When recorded from the optimal site, latencies and amplitudes of CMAPdi elicited on the two occasions were not significantly different. The current study suggests that the use of multiple chest wall electrodes can identify an optimal electrode pair, from which it is possible to obtain reproducible compound-muscle action potential signals.

Central effects of 5-HT on respiratory rhythm in newborn rats in vivo.

The role of 5-HT in inducing apnoeas (a major element in sudden infant death syndrome) is controversial because while 5-HT is a respiratory depressant in vivo, it evokes respiratory analeptic effects when applied to the isolated brainstem of the newborn rat. In decerebrate newborn rats, the electrical activity of the diaphragm and that of a hypoglossally innervated tongue muscle, as well as the cardiac frequency (Fc), were recorded before and after the application of 5-HT and related agents to the floor of the IVth ventricle. To assess the spontaneous variability in inspiratory frequency (Fi) and Fc, a sham group was studied. A decrease in Fi was observed in response to 5-HT. This respiratory depressant effect was associated with an activation of the tongue muscle, but there was no change in Fc. Application of agonists elicited a small increase in Fi linked to activation of 5-HT1A receptors, and decreases in both Fi and the activity of the tongue muscle resulting predominantly from activation of 5-HT2 receptors. The decrease in Fi was much smaller in newborn rats than that reported in newborn kittens. Indeed, in newborn rats, we did not observe long-lasting apnoeas. Our results differ from those obtained from the newborn rat in vitro, inasmuch as in vivo 5-HT essentially depressed the respiratory rhythm generator. The role of the afferent system appears to be crucial in modulating the action of 5-HT.