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.

Objective: In developing countries, sputum smear microscopy is the main tool for pulmonary tuberculosis case finding. The objective of the present study was to evaluate the diagnostic efficacy of Gabbett's staining (GS) and modified cold staining (MCS), both of which are two-step methods, in comparison with that of fluorescent staining (FS), which is a three-step method, for the detection of AFB in sputum smears. Methods: Our sample comprised 260 sputum samples collected from individuals suspected of having pulmonary tuberculosis at Kasturba Hospital, in Manipal, India. Smears were prepared in triplicate: one each for FS, MCS, and GS. The smears were randomly numbered so that the examiner was blinded to the sample identities. Results: Of the 260 samples, 16 (6.15%), 15 (5.77%), and 13 (5.00%) showed positive AFB results with FS, MCS, and GS, respectively. The sensitivity of GS and MCS, in comparison with that of FS, was 81.25% and 93.75%, respectively. The concordance of GS and MCS with FS was good (0.988 and 0.996, respectively), and no statistically significant differences were found. Conclusions: Although MCS and GS were found to be less sensitive than was FS, which is evaluated under fluorescence microscopy, the first two are promising methods for the diagnosis of tuberculosis.

Keywords: Tuberculosis, pulmonary; Diagnostic techniques and procedures; Microscopy, fluorescence; Sputum.

Pulmonary artery sarcomas are rare, difficult-to-diagnose tumors that frequently mimic chronic pulmonary thromboembolism. We report the cases of two female patients with clinical signs of dyspnea and lung masses associated with pulmonary artery filling defects on chest CT angiography. We performed 18F-fluorodeoxyglucose positron emission tomography, which revealed increased radiotracer uptake in those lesions. Pulmonary artery sarcoma was subsequently confirmed by anatomopathological examination. We emphasize the importance of this type of tomography as a noninvasive method for the diagnosis of these tumors.

Keywords: Positron-emission tomography; Pulmonary artery; Pulmonary embolism; Leiomyosarcoma; Histiocytoma, malignant fibrous.

Objective: To evaluate the frequency of asthma-COPD overlap (ACO) in patients with COPD and to compare, from a clinical, laboratory, and functional point of view, patients with and without ACO, according to different diagnostic criteria. Methods: The participants underwent evaluation by a pulmonologist, together with spirometry and blood tests. All of the patients were instructed to record their PEF twice a day. The diagnosis of ACO was based on the Proyecto Latinoamericano de Investigación en Obstrucción Pulmonar (PLATINO, Latin American Project for the Investigation of Obstructive Lung Disease) criteria, the American Thoracic Society (ATS) Roundtable criteria, and the Spanish criteria. We investigated patient histories of exacerbations and hospitalizations, after which we applied the COPD Assessment Test and the modified Medical Research Council scale, to classify risk and symptoms in accordance with the GOLD criteria. Results: Of the 51 COPD patients, 14 (27.5%), 8 (12.2%), and 18 (40.0) were diagnosed with ACO on the basis of the PLATINO, ATS Roundtable, and Spanish criteria, respectively. The values for pre-bronchodilator FVC, post-bronchodilator FVC, and pre-bronchodilator FEV1 were significantly lower among the patients with ACO than among those with COPD only (1.9 ± 0.4 L vs. 2.4 ± 0.7 L, 2.1 ± 0.5 L vs. 2.5 ± 0.8 L, and 1.0 ± 0.3 L vs. 1.3 ± 0.5 L, respectively). When the Spanish criteria were applied, IgE levels were significantly higher among the patients with ACO than among those with COPD only (363.7 ± 525.9 kU/L vs. 58.2 ± 81.6 kU/L). A history of asthma was more common among the patients with ACO (p < 0.001 for all criteria). Conclusions: In our sample, patients with ACO were more likely to report previous episodes of asthma and had worse lung function than did those with COPD only. The ATS Roundtable criteria appear to be the most judicious, although concordance was greatest between the PLATINO and the Spanish criteria.

Keywords: Asthma/diagnosis; Pulmonary disease, chronic obstructive/diagnosis; Asthma-chronic obstructive pulmonary disease overlap syndrome/diagnosis.

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.

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.

Objective: To compare individuals with and without hyperhidrosis in terms of the intensity of palmar and plantar sweating. Methods: We selected 50 patients clinically diagnosed with palmoplantar hyperhidrosis and 25 normal individuals as controls. We quantified sweating using a portable noninvasive electronic device that has relative humidity and temperature sensors to measure transepidermal water loss. All of the individuals had a body mass index of 20-25 kg/cm2. Subjects remained at rest for 20-30 min before the measurements in order to reduce external interference. The measurements were carried out in a climate-controlled environment (21-24°C). Measurements were carried out on the hypothenar region on both hands and on the medial plantar region on both feet. Results: In the palmoplantar hyperhidrosis group, the mean transepidermal water loss on the hands and feet was 133.6 ± 51.0 g/m2/h and 71.8 ± 40.3 g/m2/h, respectively, compared with 37.9 ± 18.4 g/m2/h and 27.6 ± 14.3 g/m2/h, respectively, in the control group. The differences between the groups were statistically significant (p < 0.001 for hands and feet). Conclusions: This method proved to be an accurate and reliable tool to quantify palmar and plantar sweating when performed by a trained and qualified professional.

Keywords: Hyperhidrosis; Sweat; Dermatology/instrumentation.

Objective: To estimate the prevalence of undiagnosed COPD among individuals with risk factors for the disease treated at primary health care clinics (PHCCs) in the city of Aparecida de Goiânia, Brazil. Methods: Inclusion criteria were being ≥ 40 years of age, having a > 20 pack-year history of smoking or a > 80 hour-year history of exposure to biomass smoke, and seeking medical attention at one of the selected PHCCs. All subjects included in the study underwent spirometry for the diagnosis of COPD. Results: We successfully evaluated 200 individuals, mostly males. The mean age was 65.9 ± 10.5 years. The diagnosis of COPD was confirmed in 63 individuals, only 18 of whom had been previously diagnosed with COPD (underdiagnosis rate, 71.4%). There were no significant differences between the subgroups with and without a previous diagnosis of COPD in relation to demographics and risk factors. However, there were significant differences between these subgroups for the presence of expectoration, wheezing, and dyspnea (p = 0.047; p = 0.005; and p = 0.047, respectively). The FEV1 and FEV1/FVC ratio, expressed as percentages of the predicted values, were significantly lower in the subjects with a previous diagnosis of COPD, which was predominantly mild or moderate in both subgroups. Conclusions: The rate of underdiagnosis of COPD was high at the PHCCs studied. One third of the patients with risk factors for COPD met the clinical and functional criteria for the disease. It seems that spirometry is underutilized at such facilities.

Keywords: Pulmonary disease, chronic obstructive/diagnosis; Primary health care; Spirometry.

Insomnia and excessive sleepiness are common in the investigation of sleep-disordered breathing. Circadian rhythm sleep disorders are perhaps the most often overlooked conditions in the differential diagnosis of these symptoms. Circadian rhythm sleep disorders manifest as misalignment between the sleep period and the physical/social 24-h environmental cycle. The two most prevalent circadian rhythm sleep disorders are delayed sleep phase (common in adolescents) and advanced sleep phase (common in the elderly), situations in which the sleep period is displaced to a later or earlier time, respectively. It is important to keep these two disorders in mind, since they can be confused with insomnia and excessive sleepiness. However, there are nine possible diagnoses, and all nine are of clinical interest. Since light is the principal cue used in synchronizing the biological clock, blind individuals and night-shift/swing-shift workers are more prone to develop circadian rhythm sleep disorders. In this article, the new international classification of circadian rhythm sleep disorders is reviewed.

Keywords: Circadian rhythm; Sleep disorders; Sleep initiation and maintenance disorders; Sleep stages; Sleep apnea syndromes.