Multicentric Genome-Wide Association Study for Primary Spontaneous Pneumothorax.

Despite elevated incidence and recurrence rates for Primary Spontaneous Pneumothorax (PSP), little is known about its etiology, and the genetics of idiopathic PSP remains unexplored. To identify genetic variants contributing to sporadic PSP risk, we conducted the first PSP genome-wide association study. Two replicate pools of 92 Portuguese PSP cases and of 129 age- and sex-matched controls were allelotyped in triplicate on the Affymetrix Human SNP Array 6.0 arrays. Markers passing quality control were ranked by relative allele score difference between cases and controls (|RASdiff|), by a novel cluster method and by a combined Z-test. 101 single nucleotide polymorphisms (SNPs) were selected using these three approaches for technical validation by individual genotyping in the discovery dataset. 87 out of 94 successfully tested SNPs were nominally associated in the discovery dataset. Replication of the 87 technically validated SNPs was then carried out in an independent replication dataset of 100 Portuguese cases and 425 controls. The intergenic rs4733649 SNP in chromosome 8 (between LINC00824 and LINC00977) was associated with PSP in the discovery (P = 4.07E-03, ORC[95% CI] = 1.88[1.22-2.89]), replication (P = 1.50E-02, ORC[95% CI] = 1.50[1.08-2.09]) and combined datasets (P = 8.61E-05, ORC[95% CI] = 1.65[1.29-2.13]). This study identified for the first time one genetic risk factor for sporadic PSP, but future studies are warranted to further confirm this finding in other populations and uncover its functional role in PSP pathogenesis.

"The black bronchoscopy": a case of airway soot deposition.

The term "black bronchoscopy" is used to describe the black pigmentation of the airways. It is a rare condition with multiple etiologies. We describe a case of a "black bronchoscopy" due to severe soot deposition as a result of smoke inhalation during a household fire in a 71-year-old woman. Early flexible bronchoscopy allowed for a precise diagnosis of severe inhalation injury, and bronchial lavage was carried out to remove soot casts to reduce complications. Any patient suspected of having smoke inhalation injury should undergo early bronchoscopy to allow for a precise diagnosis, staging, and more aggressive treatment measures as the mortality among patients exposed to smoke with inhalation airway injury is high.

Tracheal bronchus with metachronous tumor.

Tracheal bronchus, a bronchus arising from the lateral wall of the trachea, is a rare congenital anomaly. It is usually asymptomatic but symptoms could occur with relatively poor local drainage. There are a few cases of lung cancer within the tracheal bronchus reported in the literature; however, none of them were reported to be metachronous. A metachronous tumor is a second primary malignancy diagnosed >6 months after the diagnosis of the index tumor. We present a case of a squamous cell carcinoma originating in a tracheal bronchus of a 53-year-old patient previously diagnosed with a supraglottic malignancy.

[Bronchoscopic dilation techniques and topical application of mitomycin-C in the treatment of tracheal stenosis post intubation - two case reports]. / Técnicas de dilatação broncoscópica e aplicação tópica de mitomicina C no tratamento da estenose traqueal pós -entubação - A propósito de dois casos clínicos.

Tracheal stenosis follows any injury to the airway mucosa, such as ischaemic, traumatic and other injuries. The treatment of tracheal stenosis remains a challenging problem despite all the advances in endoscopic and surgical techniques. Scar formation and reestenosis are the main causes of treatment failure. The authors present two cases of successful treatment of a tracheal stenosis after tracheal injury from prolonged oro -tracheal intubation / tracheostomy following dilatation with rigid broncoscope and laser therapy, associated with topical application of mitomycin C as an adjuvant treatment.

[Tracheal tumors review--a clinical case of adenoid cystic carcinoma]. / Revisão dos tumores da traqueia--a propósito de um caso clínico de tumor adenóide cístico.

Tracheal tumours are rare, accounting for only about 0.3% of all bodily tumours. Their incidence is less than 0.2 per 100 000 inhabitants and 180 times less frequent than lung cancer. The reason for their rarity is not so clear. It is possible that turbulent airflow in the trachea protects its mucosa from inhaled carcinogen deposits. The authors report a case of adenoid cystic carcinoma in a 23 year-old woman, non-smoker, with acute clinical inspiratory stridor, where Nd-Yag laser use was extremely important to tracheal permeability as the tumor occupied over 80% of the tracheal lumen and could have led to imminent patient asphyxia.

[Bronchial fracture: bronchoscopy management with bronchial stent and balloon bronchoplasty]. / Fractura brônquica: Tratamento broncoscópico com colocação de prótese e broncoplastia com balão.

Bronchial fracture is a rare, life -threatening injury usually associated with blunt chest trauma. It represents a great task in diagnosis, as its manifestations are various and nonspecific. Bronchoscopy has a primordial role to diagnose and, in selective cases, to treat bronchial fractures. The authors present the case report of a patient with a thoracic trauma after an accident in the workplace. The bronchoscopy revealed a fracture of the left main bronchus. Conservative treatment was per- formed with endobronchial stenting and balloon dilatation. In conclusion, a review of the literature on bronchial fracture and the role of bronchoscopy is presented.

[Complete resection of endobronchial hamartomas via bronchoscopic techniques, electrosurgery by Argon plasma and laser]. / Ressecção completa de hamartomas endobrônquicos por técnicas broncoscópicas, electrocirurgia por argon plasma e laser Nd-YAG.

Hamartomas are benign neoplasms often located in lung and frequently asymptomatic. They are typically discovered incidentally with thorax radiographic stu- dies. About 1.4-20% of hamartomas have endobronchial location and can be symptomatic due to airway obstruction. Traditionally, surgical resection has been considered the standard of care for endobronchial hamartoma. However, there is increasing experience using endoscopic treatment and a paucity of reported complications. Endoscopic resection has comparable therapeutic efficacy with surgical resection but spares a major operation. We report two cases of endobronchial hamartomas, each diagnosed and definitively treated with bronchoscopic techniques. Persistent symptoms and abnormal radiological features were the impetus for initial diagnostic bronchoscopy. Endobronchial treatment was performed using electrosurgery by Argon plasma (APC) and Nd:YAG la- ser. This approach resulted in complete resolution of both patients' symptoms. Follow-up bronchoscopic examinations excluded residual or recurrent disease.

[Endobronchial granular cell tumor - what approach to take]. / Tumor de células granulares endobrônquico - Como abordamos?

Granular cell tumor is a mesenchymal neoplasm almost always benign, with tendency to recurrence. Although it is more frequent in in the head and neck it has been described in almost all areas of the body. Its occurrence in the lung is extremely rare. The authors describe two cases of endobronchial granular cell tumours, discuss the particularities of this pathology as well as the treatment options, with particular attention to the use of endobronchial excision and criotherapy.

[Iatrogenic tracheal rupture: a case report and indications for conservative management]. / Ruptura iatrogénica da traqueia: caso clínico e indicações para tratamento conservador.

Tracheal rupture after endotracheal intubation requires immediate intervention. There have been an increasing number of reports that describe nonsurgical management of this issue. We report the case of a 47-year-old woman who experienced an iatrogenic tracheal rupture during endotracheal intubation for a surgical procedure with general anaesthesia. She was successfully managed conservatively with a broad-spectrum antibiotic. We managed it non-operatively, because the patient had a small tear, was hemodynamically stable, show no evidence of infection or respiratory failure, and the diagnosis was not immediate. Bronchoscopy was a good diagnostic tool and it was used to make decisions regarding conservative management, and to detect granulation tissue and rule out any tracheal stenosis after treatment. We review available literature on conservative management of tracheal rupture. Immediate recognition and adequate treatment are very important in managing this potentially fatal situation. The final decision should be based on clinical, radiologic and bronchoscopic findings.

Tracheobronchial foreign bodies in adults--experience of the Bronchology Unit of Centro Hospitalar de Vila Nova de Gaia.

INTRODUCTION: Foreign body aspiration (FBA) is frequent in children but uncommon in adults it's and often remains hidden for long periods of time. A high index of suspicion is essential for the correct diagnosis of this condition. Early extraction of FB avoids sequelae and complications. METHODS: Retrospective study of FBA cases in adults that occurred in a 20 year period (1985-2005). The authors reviewed of the clinical records of all patients admitted with the diagnosis of foreign body in the airway in that time period. RESULTS: In that period of time 77 FB were extracted. Male:female ratio was 68:32%, mean age was 51.4 years and mean delay between FB aspiration and removal 401 days (min: 3 h, max: 21 years). Most common clinical presentations: acute asphyxia in 28%, persistent cough 22%. Nature of FB: bone fragments 33%, vegetable matter 31%. The majority of FBs (61%) was lodged in the right bronchial tree; 26% were radiopaque. Rigid bronchoscopy was performed in 75 cases and fiberoptic bronchoscopy in only two. Two patients needed two bronchoscopies for FB removal. There were no complications, need for surgery or relevant sequelae. CONCLUSIONS: FBA may happen at any age. In adults the clinical presentation is variable and the FBA episode is often missed, delaying the diagnosis. Rigid bronchoscopy proved to be an efficient and safe procedure. FBA must be a diagnostic hypothesis when studying an adult with long standing respiratory complaints.

[Recurrent pleural effusion with macroglobulinemia--case report with revision of the literature]. / Derrame pleural recidivante com macroglobulinemia caso clínico com revisão da literatura.

We describe a case of chronic relapsing pleural effusion in a 73 year old male with lympho-palsmocytic pleural infiltration and monoclonal gamopathy (IgMk), and no other manifestation of Waldenströmacute;s Disease (W.D.). The patient was treated symptomatically and remained in good general condition up to his death from unrelated causes after 3 years of evolution. We reviewed the literature trying to define the different presentations of W.D.