The role of endobronchial ultrasound-guided fine needle aspiration in the diagnosis of pleural mesothelioma.

OBJECTIVE: The aims of the present study were to investigate the role of endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) in the diagnosis of malignant pleural mesothelioma (MPM), and to identify specific clinical settings in which this procedure can be recommended. METHODS: We retrospectively reviewed the clinical and pathological files of patients having undergone EBUS-TBNA from February 2011 to October 2014 to investigate thoracic lesions. Among 736 patients, we identified four of them with a diagnosis of MPM achieved primarily through EBUS-TBNA. The diagnosis was made on formalin-fixed paraffin-embedded cell blocks, by checking the expression of mesothelial and carcinomatous-specific markers. RESULTS: In all patients, the collected tissue was adequate, and the histological analysis in association with immunohistochemistry led us to the diagnosis of malignant pleural mesothelioma. In three patients, the diagnosis of mesothelioma was clinically suspected, as patients presented with diffuse pleural thickening. In two patients, videothoracoscopy was not possible owing to the 'dry' presentation of the pleural disease and the site of thickening. In this setting, EBUS-TBNA was considered, at a multidisciplinary consensus meeting, as the most adequate available method to obtain a histological diagnosis. CONCLUSION: EBUS-TBNA may be a valuable diagnostic technique in the field of pleural pathology in selected clinical settings. More specifically 'dry' mesothelioma forming para-tracheal nodules or masses not accessible by surgery or by computed tomography/ultrasonogaphy-guided needle biopsy constitutes a good indication to perform EBUS-TBNA.

[The role of surveillance bronchoscopy after lung transplantation]. / Rôle de l'endoscopie bronchique après transplantation pulmonaire.

The role of surveillance bronchoscopy after lung transplantation. Lung transplantation is currently accepted as a potential treatment for end-stage respiratory diseases. That said, airway complications and the onset of chronic lung allograft dysfunction remain major causes of morbidity and mortality subsequent to lung transplantation and a significant obstacle to long-term survival. In this article, we discuss the advantages and limitations of bronchial endoscopy in post-lung transplant monitoring.

[Pulmonary embolism: the extent of computerized tomography]. / Embolie pulmonaire : faut-il tendre vers le << tout angioscanner >> ?

The use of computerised tomography in the diagnosis of pulmonary embolism has been the subject of clinical research while, at the same time, technical progress has provided the current multidetector-row spiral equipment. Computerised tomography has been assessed both with respect to reference strategies as well as in extensive pragmatic trials. The preliminary evaluation of the clinical probability and the assay of d-dimers has progressively become imperative. The value of the venous doppler ultrasound of the legs, in particular in the elderly, is limited by the variable accessibility according to the centre. In rare cases, uncertainty persists, for example with a good quality negative multidetector-row spiral computerised tomography associated with a high clinical probability, leaving room for complementary explorations. The confrontation between clinicians and radiologists is then all the more pertinent.

Bronchial Paraganglioma with SDHB Deficiency.

Though most paragangliomas arise as sporadic tumors, the recent advantages in the genetic screening revealed that about 30 % of paragangliomas are linked to hereditary mutations, such as those involving SDH genes. A 22-year-old woman carrying a left main bronchus tumor underwent surgery in our institution. Her past medical history included a GIST without KIT or PDGFRA mutation. The histological examination revealed a nested proliferation of medium-sized cells expressing neuroendocrine markers (chromogranin A and synaptophysin). The neoplastic cells failed to express SDHB gene product. These findings led us to the final diagnosis of bronchial paraganglioma in the setting of Carney-Stratakis syndrome. Bronchial paragangliomas are exceedingly rare tumors with polymorphous clinical presentation, and usually benign clinical course. Though most paragangliomas are sporadic, some tumors are associated with specific hereditary disease, especially those occurring in young patients or in combination with other neoplasms.

FGB mutations leading to congenital quantitative fibrinogen deficiencies: an update and report of four novel mutations.

INTRODUCTION: Causative mutations leading to congenital quantitative fibrinogen are frequently clustered in FGA encoding the fibrinogen Aα-chain. Mutations of FGB encoding the Bß-chain are less common and of interest since the Bß-chain is considered the rate-limiting factor in the hepatic production of the fibrinogen hexamer. METHOD: Four novel FGB mutations were identified in two afibrinogenemic (one new-born and one 30 years old male) and hypofibrinogenemic (a 49 years old female) patient, with heterogeneous thrombotic and bleeding phenotype. The human fibrinogen beta chain precursor protein sequence (P02675) was obtained from the UniProt database. The resulting models were analysed in SwissPdbViewer 4.1 and POV-Ray 3.7. RESULTS: The FGB c.895T>C p.Y299H (numbering from the initiator Met) and the FGB c.1415G>T p.G472V were predicted to be deleterious by SIFT analysis. The first replaces an uncharged aromatic amino acid side chain by a positively charged side chain modifying the balance in the distribution of hydrophobic and hydrophilic of the 10 Å neighbourhood residues. The second replaces one non-charged aliphatic side chain by another without any changes for the 10 Å surrounding region. The FGB c.352C>T p.Q118X leads to a severe premature termination codon and the FGB intron 4: IVS4-1G>C (c719-1G>C) leads to skipping of exon 5 or usage of a cryptic acceptor site located upstream or downstream of the normal site. CONCLUSIONS: The continuous characterization of novel molecular defects responsible for fibrinogen deficiency combined with modelling of mutant proteins will continue to provide a better comprehension of the complexity of fibrinogen synthesis and physiology.

[Pulmonary arterial hypertension in the elderly subject]. / Hypertension artérielle pulmonaire du sujet âgé. La cohorte d'un centre régional.

OBJECTIVE: To describe the features of pulmonary arterial hypertension (PAH) in elderly patients. METHODS: A single centre, descriptive study of PAH patients consecutively referred to a regional centre, from September 2002 to February, 1st, 2009. The group of patients aged 65 and above at the time of the diagnosis was compared to the younger patients. RESULTS: Sixty-six patients suffering from PAH (group 1) have been investigated by means of right heart catheterisation. There were 24 patients aged 65 and above. Mean pulmonary arterial pressure was lower in the patients aged over 65. The older patient group had more respiratory and/or cardiac co-morbidities, a lower median distance in the 6minute walk test and a higher median Pro-BNP level. Specific PAH treatments were prescribed in both groups. Fifteen patients aged 65 and above were on long-term oxygen therapy (vs four younger patients, p<0.0001). The elderly patients had a median survival of 32 months. CONCLUSION: The diagnosis of PAH in elderly patients is associated with a poor prognosis. The management of these patients needs further studies.