Dyspnea assessment in myotonic dystrophy type 1.

In myotonic mystrophy type 1 (DM1), combining respiratory symptom screening and respiratory function testing, is crucial to identify the appropriate time for ventilatory support initiation. Dyspnea has been little investigated in DM1. To provide a multidimensional description of dyspnea, questionnaires assessing dyspnea were administered to 34 consecutive adult patients with DM1 (median (25th-75th centile) age of 36 (28-49), Vital Capacity (VC) of 74 (64-87)% of predicted value). Dyspnea scores were low whatever the questionnaire used: Multidimensional Dyspnea Profile score of 2(0-4.7)/50 for dyspnea sensory descriptor and of 0 (0-4.7)/60 for the emotional descriptor, Visual Analogue Scale score of 0 (0-0)/10 in sitting and supine position and Borg score after six-minute walk test (6MWT) of 2.2 (1.8-4.2)/10. Eleven patients (32%) reported disabling dyspnea in daily living (modified Medical Research Council (mMRC) score ≥ 2). In comparison with patients with mMRC score < 2, patients with mMRC score ≥ 2 had a more severe motor handicap (Muscular Impairment Rating score of 4.0 (4.0-4.0) vs 3.0 (2.0-3.5), p<0.01), a lower 6MWT distance (373 (260-424) vs 436 (346-499)m, p = 0.03) and a lower VC (64 (48-74)% vs 75 (69-89)%, p = 0.02). These data suggest that the mMRC scale might be an easy-to-use and useful tool to assess dyspnea in daily living in DM1 patients. However, the interest of integrating the mMRC dyspnea scale in clinical practice to guide therapeutic management of DM1 patients remains to be assessed in further studies.

[Treatment of GERD in asthma]. / Traitement du reflux gastro-œsophagien dans l'asthme.

Gastro-oesophageal reflux disease (GORD) is one of the most frequent conditions associated with asthma. GORD has an impact on asthma control and quality of life of asthmatic patients. Its treatment relies on lifestyle modifications, anti-acidic treatment with proton pump inhibitors (PPI) and/or surgical management by fundoplication in some situations. The impact of lifestyle modifications has not been analysed on asthma outcomes alone. Several randomised controlled trials assessed the efficacy of PPI on asthma control, peak expiratory flow and/or quality of life. The impact of fundoplication in asthma has mainly been analysed in retrospective or prospective observational studies. This review highlights the limited impact of GORD treatment on asthma control. Current guidelines are to restrict GORD treatment in asthma to asthmatic patients with actual symptomatic GORD. Given the lack of controlled studies, the place of surgical management of GORD in asthma is currently not defined.

[Obesity and asthma: Mechanisms and therapeutic options]. / Asthme et obésité : mécanismes et pistes thérapeutiques.

Asthma and obesity are both common conditions, which lead to a substantial public health burden. The obese-asthma phenotype is characterized by poor asthma control, impaired lung function and decreased efficacy of inhaled treatment. However, this phenotype is highly heterogeneous and involves numerous mechanisms, including systemic inflammation and adipokines. A role for microbiota modifications and genetics has been suggested. Obese-asthma patient management currently consists in weight loss and usual anti-asthmatic treatment. New therapeutic options are being evaluated.

[Detection and prevention in later life: risk profiles for physical, psychological, social and environmental frailty.] / Detectie en preventie van kwetsbaarheid: Op zoek naar risicoprofielen voor fysieke, psychische, sociale en omgevingskwetsbaarheid.

In order to provide proactive care and support for older people attention is needed for the prevention of frailty among older adults. Subsequently, accurate case finding of those who are more at risk of becoming frail is crucial to undertake specific preventive actions. This study investigates frailty and risk profiles of frailty among older people in order to support proactive detection. Hereby, frailty is conceived not only as a physical problem, but also refers to emotional, social, and environmental hazards. Using data generated from the Belgian Ageing Studies (N = 21,664 home-dwelling older people), a multinomial logistic regression model was tested which included socio-demographic and socio-economic indicators as well as the four dimensions of frailty (physical, social, psychological and environmental). Findings indicate that for both men and women having moved in the previous 10 years and having a lower household income are risk factors of becoming multidimensional frail. However, studying the different frailty domains, several risk profiles arise (e. g. marital status is important for psychological frailty), and gender-specific risk groups are detected (e. g. non-married men). This paper elaborates on practical implications and formulates a number of future research recommendations to tackle frailty in an ageing society.

[Systemic lupus erythematosus presenting as severe alveolar hypoventilation and the shrinking lung syndrome]. / Hypoventilation alvéolaire sévère révélant un shrinking lung syndrome lupique.

INTRODUCTION: The shrinking lung syndrome (SLS) is a rare complication of systemic lupus erythematosus. CASE REPORT: A 69-year-old man presented with exertional dyspnoea, muscle weakness, and weight loss of 15kg in 6months. Pulmonary function tests revealed a restrictive lung disorder, with a dramatic decrease in maximal inspiratory pressure (17% of theoretical value), and alveolar hypoventilation (pH 7.43; PaCO2 55mmHg). A thoracic CT-scan showed bilateral diaphragmatic elevation. The creatinine phophokinase level was increased at 280U/L. Progress was marked by a rapidly increasing respiratory acidosis (pH 7.24, PaCO2 109mmHg) requiring invasive ventilation. Auto-immune studies revealed positive anti-nuclear antibodies (1/800) and positive anti-native DNA antibody at 45U/L. Treatment with systemic corticosteroids led to an initial improvement but it was not possible to discontinue mechanical ventilation. The outcome was fatal. Autopsy did not reveal any other cause and a diagnosis of the SLS associated with lupus was confirmed. CONCLUSION: The interesting features of this case report consist of: 1) the presentation of the SLS as an alveolar hypoventilation with a fatal outcome, 2) the presentation of systemic lupus as SLS.

[Multiple pulmonary opacities revealing toxocariasis]. / Opacités pulmonaires multiples révélant une toxocarose.

INTRODUCTION: Toxocariasis is a parasitosis which complicates the accidental infestation of the humans by larvae of a roundworms belonging of the genus Toxocara. In adults, the discovery is often incidental during a hypereosinophilia check-up. Clinical signs are not specific and depend on affected organs. CASE REPORT: We report the case of a 53-year-old-woman who has consulted for a recent cough, after spontaneous resolution of abdominal pain. The laboratory examination isolated an hypereosinophilia and the liver sonography showed two hypoechogenic nodules. The CT-scan found bilateral lung nodules with ground glass halo. Broncho-alveolar lavage identified an eosinophilic alveolitis. Positive serologic results for toxocariasis and western blot results allowed to conclude to the diagnosis of pulmonary and hepatic toxocariasis. CONCLUSION: Although rare, pulmonary toxocariasis should be suspect in any lung eosinophilia, especially if the patient has never traveled.

[The Proteus syndrome: a rare cause of pulmonary emphysema]. / Le syndrome de Protée : une cause exceptionnelle d'emphysème pulmonaire.

INTRODUCTION: The Proteus syndrome is a rare genetic disease which is characterized by the overgrowth of tissues, especially bone, connective and adipose tissue. This condition is related to a somatic mosaic activating mutation in the AKT1 oncogene. CASE REPORT: We report the case of a 25-year-old man, diagnosed with the Proteus syndrome at the age of 6 months. He exhibited an asymmetric overgrowth of the extremities leading to bilateral amputation of the legs at the age of 10 years. He was hospitalized for acute respiratory failure due to a bronchopulmonary infection. Severe bullous pulmonary emphysema, predominantly on the left, with mediastinal deviation, was diagnosed. The patient recovered with antibiotics. An assessment 2 months later revealed mild hypoxaemia (PaO2=75 mmHg) and severe airflow limitation (FEV1=1260 mL [28% th.], FEV1/V C=69%) with hyperinflation (TLC=7840 mL [107% th.], RV=6010 mL [253% th.]). CONCLUSION: The Proteus syndrome is a very rare cause of pulmonary emphysema. The pathophysiology of emphysema in this syndrome is unknown. It can be hypothesized that the development of pulmonary cysts leading to emphysema may share the same AKT1 activation pathway with lymphangioleiomyomatosis.

Association of sarcoidosis and ulcerative colitis: a review of 20 cases.

Sarcoidosis and ulcerative colitis is a rare association. We report a case of this association and describe its clinical, radiological and functional characteristics based on a review of the literature. This association must be recognized by the physician and must be clearly distinguished from a systemic site of ulcerative colitis or drug-related pneumonitis.

Steatotic rat hepatocytes in primary culture are more susceptible to the acute toxic effect of acetaminophen.

Acetaminophen (APAP) overdose is the most common cause of acute liver failure in humans. Non-alcoholic fatty liver disease is the most frequent chronic liver disease in developed countries. The aim of our work was to compare the effect of APAP on intact rat hepatocytes and hepatocytes isolated from steatotic liver in primary cultures. Male Wistar rats were fed with standard diet (10 % energy from fat) and high-fat diet (71 % energy from fat) for 6 weeks and then hepatocytes were isolated. After cell attachment, APAP (1; 2.5; 3.75 and 5 mM) was added to culture media (William's E medium) and hepatocytes were cultured for up to 24 hours. APAP caused more severe dose-dependent damage of steatotic hepatocytes as documented by increased release of lactate dehydrogenase (LDH) and LDH leakage, decreased activity of cellular dehydrogenases (WST-1 test) and reduced albumin production. Intact steatotic hepatocytes contained lower amount of reduced glutathione (GSH). Treatment with APAP (1 and 2.5 mmol/l) caused more pronounced decrease in GSH in steatotic hepatocytes. ROS (reactive oxygen species) formation after 24-hour incubation was significantly higher in fatty hepatocytes using APAP at concentration of 3.75 and 5 mmol/l. Interleukin 6 (IL-6) production was elevated in 2.5 mM APAP-treated nonsteatotic and steatotic hepatocyte cultures at 8 hours, compared to appropriate controls. In conclusions, our results indicate that steatotic hepatocytes exert higher sensitivity to the toxic action of APAP. This sensitivity may be caused by lower content of GSH in intact steatotic hepatocytes and by more pronounced APAP-induced decrease in intracellular concentration of GSH.

[Alveolar hemorrhage associated with sarcoidosis]. / Sarcoïdose médiastinopulmonaire associée à une hémorragie intra-alvéolaire.

INTRODUCTION: Sarcoidosis is a systemic granulomatous disease of unknown origin. We report an unusual case associated with alveolar haemorrhage. CASE REPORT: An 18-year-old caucasian man was admitted for recent dyspnea. He reported regular tobacco- and occasional cannabis smoking. Lung CT scan revealed mediastinal lymphadenopathy and lung nodules in both fields. Bronchoalveolar lavage recovered bloody alveolar fluid containing many siderophages. Because of rapid deterioration leading to acute respiratory failure, intravenous corticosteroid treatment was started. Improvement was obtained in few days and a diagnosis of sarcoidosis was established based on lymph node biopsy performed under mediastinoscopy. CONCLUSION: This unusual case and those reported in the literature give us the opportunity to describe the characteristics of alveolar haemorrhage associated with sarcoidosis.

[Pulmonary artery stump thrombosis following pneumonectomy]. / Thrombose in situ du moignon artériel pulmonaire après pneumonectomie.

INTRODUCTION: Pulmonary artery stump thrombosis has been reported after pneumonectomy. The prevalence of risk factors for and outcome associated with this condition remain to be clearly evaluated. CASE REPORT: We describe three cases of pulmonary artery stump thrombosis occurring after pneumonectomy. No pulmonary embolism was observed despite the absence of anticoagulation therapy. The prevalence of arterial stump thrombosis after pneumonectomy has been estimated as 12%. It is often detected by CT scanning performed systematically as part of the routine follow up of lung cancer. Thrombus was identified as a filling defect with concave or convex margins, located at the bottom of the stump. DISCUSSION: Only one case of pulmonary embolism associated with pulmonary artery stump thrombosis has been described. The absence of complications associated with thrombus in this site suggests that anticoagulant therapy is not likely to be of benefit.

[Follicular bronchiolitis]. / Bronchiolite folliculaire.

INTRODUCTION: Follicular bronchiolitis (FB) is a rare type of cellular bronchiolitis characterised by the presence of hyperplastic lymphoid follicles with reactive germinal centres, distributed along the bronchovascular bundles. OBSERVATION: A non-smoking 36 year old woman was seen because of progressive exertional dyspnoea for 2 years. Chest x-ray and lung CT scan were normal. Pulmonary function tests revealed irreversible airflow obstruction. Exercise testing showed a ventilatory limitation of aerobic capacity with limitation of volume recruitment. The diagnosis of FB was obtained by surgical biopsy. A deficiency of immunoglobulins G4 and M was found. CONCLUSION: The main clinical manifestation of FB is exertional dyspnoea in a young patient. The lung CT scan frequently shows peripheral micronodules but a normal scan does not exclude the diagnosis. The main causes of FB are collagen vascular diseases (especially rheumatoid arthritis) and immunodeficiency syndromes. The treatment of FB is not well defined.

[Fire-eater's lung]. / Pneumopathie des cracheurs de feu.

INTRODUCTION: Fire-eaters use kerdan, a petroleum-derivative, during their performances. Its accidental inhalation produces respiratory symptoms known as fire-eater's lung. CASES: We report 8 cases of fire-eater's lung and compare their clinical and radiologic data and outcome with those of 44 cases from the French and English-language literature. Presentation is highly characteristic: i) occurrence in young inexperienced subjects; ii) immediate phase characterized by coughing and digestive symptoms; iii) after a latency period, pseudoinfectious lung disease frequently associated with extra-respiratory symptoms, usually digestive; iv) generally favorable clinical and radiological outcome, rarely complicated by pneumatocele or pneumothorax. CONCLUSION: Diagnosis of fire-eater's lung is based on history-taking and characteristic clinical and radiological presentation. Treatment is symptomatic. Prevention relies on educational campaigns about the risks of fire-eating.