Primary ciliary dyskinesia (PCD) is a genetic disorder of ciliary structure or function. It results in mucus accumulation and bacterial colonization of the respiratory tract which leads to chronic upper and lower airway infections, organ laterality defects, and fertility problems. We review the respiratory signs and symptoms of PCD, as well as the screening tests for and diagnostic investigation of the disease, together with details related to ciliary function, ciliary ultrastructure, and genetic studies. In addition, we describe the difficulties in diagnosing PCD by means of transmission electron microscopy, as well as describing patient follow-up procedures.

Keywords: Kartagener Syndrome; Cilia; Mucociliary clearance; Ciliary motility disorders; Diagnosis.

Primary ciliary dyskinesia is an autosomal recessive disorder characterized by a history of recurrent upper and lower respiratory tract infections with chronic otitis media, bronchitis and rhinosinusitis, associated with situs inversus in 50% of cases. The diagnosis is established by ciliary ultrastructural analysis of respiratory specimens, after ruling out some disorders as cystic fibrosis, a-1 anti-trypsin deficiency, immune deficiencies (IgG, neutrophils and complement) and Young's syndrome. The purpose of this paper is to review the clinical features, diagnosis and management of primary ciliary dyskinesia, including a diagnostic algorithm.

Keywords: Ciliary dyskinesia. Situs inversus. Diagnosis.

Primary ciliary dyskinesia (PCD), previously known as immotile cilia syndrome, is an autosomal recessive hereditary disease that includes various patterns of ciliary ultrastructural defects. The most serious form is Kartagener syndrome (KS), which accounts for 50% of all cases of PCD. The incidence of PCD ranges from 1:20,000 to 1:60,000. Since PCD causes deficiency or even stasis of the transport of secretions throughout the respiratory tract, it favors the growth of viruses and bacteria. As a result, patients have lifelong chronic and recurrent infections, typically suffering from bronchitis, pneumonia, hemoptysis, sinusitis, and infertility. Bronchiectasis and other chronic conditions infections can be the end result of the irreversible bronchial alterations, leading to chronic cor pulmonale and its consequences. Only half of the patients affected by PDC present all of the symptoms, a condition designated complete KS, compared with incomplete KS, typically defined as cases in which situs inversus does not occur. The diagnosis is made clinically and confirmed through transmission electron microscopy. Since there is no specific therapy for PCD, it is recommended that, upon diagnosis, secondary infections be treated with potent antibiotics and prophylactic interventions be implemented. In this paper, we report six cases of PCD (five cases of complete KS and one case of KS) and review the related literature, focusing on the diagnostic, therapeutic and clinical aspects of this disease.

Keywords: Kartagener syndrome; Ciliary motility disorders; Bronchiectasis; Dextrocardia.

Primary ciliary dyskinesia (PCD) is a genetic disorder that is typically inherited in an autosomal recessive manner. It is clinically characterized by recurrent respiratory infections. However, its repercussions for patient quality of life should not be overlooked. Studies have shown that PCD has a significant impact on the lives of patients, although there are as yet no PCD-specific markers of quality of life. To address that problem, researchers in the United Kingdom developed a quality-of-life questionnaire for patients with PCD. The present communication focuses on the process of translating that questionnaire into Brazilian Portuguese, through a partnership between researchers in Brazil and those in the United Kingdom, as well as its subsequent application in patients in Brazil.

Keywords: Quality of life; Kartagener syndrome; Surveys and questionnaires.

Tracheobronchial amyloidosis is an uncommon localized form of amyloidosis, characterized by amyloid deposits restricted to the trachea, main bronchi and segmental bronchi. We present the case of a retired 67-year-old man with long-term progressive dyspnea, wheezing and chest pain. A diagnosis of tracheobronchial amyloidosis was made after the third fiberoptic bronchoscopy and histological confirmation through Congo red staining of tissue samples.

Keywords: Amiloidose/traquéia; Broncoscopia; Doenças da traquéia/diagnóstico.

Amyloidosis is a disease characterized by extracellular deposition of fibrillar protein in organs and tissues. Primary tracheal amyloidosis is rare. We report here a case of a 55-year-old man with tracheal amyloidosis hospitalized for acute respiratory insufficiency and with a history of recent episodes of pneumonia. Chest X-ray and chest computed tomography showed tracheal obstruction due to a tumor. A passage was created in order to relieve the symptoms. Histological examination (Congo red staining) revealed amyloid deposits but no evidence of neoplasia. Although this is a rare clinical condition, its importance is discussed regarding the differential diagnosis of tracheal tumors and the repercussions for therapeutic decision-making.

Keywords: Amyloidosis; Respiratory insufficiency; Congo red; Airway obstruction.

The saccharin test measures nasal mucociliary clearance. It is simple to perform, inexpensive, reproducible and is a screening test for the diagnosis of primary ciliary dyskinesia. Study objective - To establish the normal range of the ST in a group of presumed normal Brazilian children, and compare the results with those from the literature. Setting - The study was conducted in 2 schools in São Paulo, Brazil. Participants - Two hundred and thirty eight schoolchildren, 134 boys and 104 girls, age range 10.8-16.8 years, were studied. Information on respiratory diseases and smoking habits of parents were obtained from a questionnaire completed by the parents. Results - The questionnaires were analyzed and the children were then divided into 5 groups.The mean ST value in the group of normal children was 7.5 ± 2.8 minutes, comparable to the literature. The mean ST value in children with parental smoking, upper respiratory tract infection (URTI) within the preceding week, or allergy and URTI was not significantly different from the normal group. However, there was a significant difference between the normal group and those with allergy. As the standard deviation was greater in the groups with URTI, the population was reorganized into 2 groups, the criteria being the presence or not of URTI within the preceding week. Again, the mean ST values were not significantly different, but the variability was significantly different in the group with URTI. In 99% of the children studied the test took less than 30 minutes. Conclusions - Saccharin test values over 30 minutes should be considered abnormal and retested. We recommend that the test should not be performed during or within one month following an URTI.

Keywords: Saccharin test. Nasal mucociliary clearance.

With the advent of HRCT, primary spontaneous pneumothorax has come to be better understood and managed, because its etiology can now be identified in most cases. Primary spontaneous pneumothorax is mainly caused by the rupture of a small subpleural emphysematous vesicle (designated a bleb) or of a subpleural paraseptal emphysematous lesion (designated a bulla). The aim of this pictorial essay was to improve the understanding of primary spontaneous pneumothorax and to propose a description of the major anatomical lesions found during surgery.

Keywords: Pneumothorax; Pulmonary emphysema; Tomography, X-ray computed.

Primary infection with Paracoccidioides brasiliensis has rarely been observed. A 28-year-old male patient presented with a three-month history of fever, respiratory symptoms and malaise. Chest X-rays revealed bilateral apical infiltrates, right pleuritis and hilar lymphadenomegaly. The patient presented with leukocytosis, severe eosinophilia and increasing titers of anti-P. brasiliensis antibodies in serum. To our knowledge, this is the first report of the primary pulmonary lymph node complex of paracoccidioidomycosis accompanied by hypereosinophilia and affecting a previously healthy adult.

Keywords: Paracoccidioidomycosis; Eosinophilia; Lung diseases, fungal.

Primary pulmonary hypertension (PPH) is a disease of rare, unclear etiology, leading to elevations in pulmonary artery pressure and pulmonary vascular resistance. The vascular lesions range from mild - consisting of neo-intimal proliferation - to severe - characterized by concentric intimal fibrosis, plexiform lesions, and necrotizing arteritis. There have been since 1987 reports describing the association between human immunodeficiency virus (HIV) and PPH, with as many as 60 patients in 1997. The role of HIV in the pathogenesis remains unclear. It is reported a case of a woman in whom this association was observed.

Keywords: Primary pulmonary hypertension. Human immunodeficiency virus.

Primary immunodeficiency diseases comprise a genetically heterogeneous group of disorders that affect distinct components of the innate and adaptive immune system, such as neutrophils, macrophages, dendritic cells, complement proteins and natural killer cells, as well as T and B lymphocytes. The study of these diseases has provided essential insights into the functioning of the immune system. Primary immunodeficiency diseases have been linked to over 120 different genes, abnormalities in which account for approximately 180 different forms of these diseases. Patients with primary immunodeficiency diseases are most often recognized because of their increased susceptibility to infections. However, these patients can also present with a variety of other manifestations, such as autoimmune diseases, inflammatory diseases and cancer. The purpose of this article is to update the main aspects of primary immunodeficiency diseases, especially regarding the clinical manifestations related to the diagnosis, emphasizing the need for the early recognition of warning signs for these diseases.

Keywords: Respiratory tract infections; Complement activation; Immunologic deficiency syndromes; Phagocytes; Immunoglobulins.

Objective: To estimate the prevalence of and determine the risk factors associated with latent Mycobacterium tuberculosis infection (LTBI) among primary health care workers in the city of Vitória, Brazil. Methods: This was a cross-sectional study with data collected through a survey regarding socio-demographic, occupational, clinical, and exposure characteristics, as well as knowledge about tuberculosis, conducted between 2011 and 2012. All participants underwent a tuberculin skin test (TST), and TSTs were read at 72 h by a trained professional. Results: A total of 218 primary health care workers participated in the study. The prevalence of TST positivity at the ≥ 10-mm and ≥ 5-mm cut-off points was, respectively, 39.4% (95% CI: 32.9-45.9) and 54.1% (95% CI: 47.4-60.7). Regarding occupational categories, community health agents had the highest proportion of TST positivity, regardless of the cut-off point (≥ 10 mm: 47.5%; and ≥ 5 mm: 60.5%). Regarding factors associated with TST results, "having had a previous TST" showed a statistically significant association with TST positivity at the ≥ 10-mm and ≥ 5-mm cut-off points (OR = 2.5 [95% CI: 1.17-5.30] and OR = 2.18 [95% CI: 1.23-3.87], respectively). Conclusions: The prevalence of LTBI was found to be high among the primary health care workers in this sample. Therefore, we recommend the establishment of a periodic screening program for LTBI and implementation of effective biosafety policies for the prevention of this infection among primary health care workers.

Keywords: Health personnel; Tuberculin test; Latent tuberculosis; Primary health care.

Primary effusion lymphoma is an unusual non-Hodgkin's lymphoma rarely seen in immunocompetent patients. Herein, we present clinical and biochemical data obtained from an immunocompetent patient diagnosed with primary effusion lymphoma.

Keywords: Pleural effusion; Lymphoma, non-Hodgkin; HIV seronegativity; Case reports

Background: Hyperhidrosis or excessive sudoresis is a chronic disease associated with important subjective distress. Objective: To propose a specific questionnaire to evaluate the quality of life of patients with hyperhidrosis. Methods: From October 1995 to March 2002, 378 patients (234 females), with a mean age of 26.8 years, were evaluated before and after video-assisted thoracic sympathectomy. Results: Therapeutic success was obtained in 90% of the procedures. The recurrence rate was 10% for palmar and 11% for axillary hyperhidrosis; 27% of the patients who had recurrence were re-operated successfully. No serious complications were reported. Of the total number of patients, 91% answered to the quality of life questionnaire, and 86% of them reported improvement after the procedure. Conclusions: Thoracic sympathectomy is a therapeutic method capable of changing the quality of life of patients with hyperhidrosis. The questionnaire applied has shown these changes.

Keywords: Thoracic sympathectomy. Quality of life.

Purpose: To assess the results of the surgical treatment of primary spontaneous pneumothorax (PSP) by means of axillary thoracotomy, blebs resection and abrasive pleurodesis, by comparing the results with the different options of treatment, and to discuss the surgical approach as the best therapeutic option for patient with the first occurrence of PSP. Material and methods: 35 axillary thoracotomy with abrasive pleurodesis for the treatment of PSP were carried out at the Department of Thoracic Surgery of the University of Caxias do Sul between January 1996 and March 1999. Results: 23 patients with their first episode of PSP and 12 patients in their second episode were treated. The pleural drains were kept for in an average period of 2.7 ± 1.6 days. The average time in hospital was about 4.9 ± 2.4 days. Morbidity was 8.5% and mortality rate was zero. There was no relapse in an average period of 22 months of follow-up. Conclusion: The indication of axillary thoracotomy and abrasive pleurodesis to the patients with primary spontaneous pneumothorax (PSP) at the first or recurrent episode showed low rates of morbidity and no relapse, besides short periods of hospitalization and pleural drain permanence. The possibility of indication as the first therapeutic method for the PSP should be considered.

Keywords: Pneumothorax. Thoracotomy.

We report a case of breast cancer identified in a 72-year-old male as an accidental finding during the course of the investigation of a primary tumor and the search for pulmonary metastases. We address aspects related to the epidemiology, diagnosis, treatment and prognosis of this condition in males.

Keywords: Neoplasm metastasis/lung; Breast neoplasms; Male.