Introduction and Aim: Disease severity related with genetic analysis in Primary ciliary dyskinesia(PCD) has been described recently. The main aim of our study was to describe clinical characteristics and laboratory findings of PCD patients, related to diagnostic tests including nasal NO, high speed videomicroscopy(HSVM), transmission electron microscopy(TEM) and genetic analysis. Methods: We analyzed the clinical characteristics, laboratory findings and genetic results of the 61 patients diagnosed with PCD according to history, clinical, radiological findings, nasal NO, TEM, HSVM and genetic results within five years. Results: The mean diagnostic age was 8.3±4.2 years and initial symptoms started meanly 8 months old. According to symptoms:81.2% of patients have neonatal respiratory distress, 96.7% of patients have rhinitis, 82% of patients have recurrent sinusitis, 36.1% of patients have recurrent otitis, 16.4% of patients have hearing problems, 29.5% of patients have situs inversus totalis. Genetic analysis revealed DNAH5(n=11), CCDC40(n=9), RSPH4A(n=5), DNAH11(n=5), HYDIN(n=5), CCNO(n=4), DNAI1(n=2), ARMC4(n=2), TTC25(n=1), DNAH1(n=1), CCDC39(n=1) and new candidate PCD genes. Mean diagnostic age was low in patients with CCNO mutations due to early initial symptoms, mean BMI and BMI z score were low in patients with CCDC40 and CCNO mutations. Mean FEV1, FVC, FEF25-75 z score were also low in CCDC40 mutation group. Conclusion: Our cohort showed that growth and nutrition are associated with lung functions in PCD. Patients with CCDC40 and CCNO mutations presented earlier and had worse lung disease and poorer nutritional status.
Abstract Objectives—Aim We aimed to show the composition and structure of and explore affecting factors on airway microbiota in primary ciliary dyskinesia (PCD) patients using culture‐independent techniques. Method A cross‐sectional observational study was performed. We recruited 14 PCD patients (seven pairs of siblings) and nine parents. Bacterial rDNA was extracted from sputum and nasal samples. Sputum samples were also inoculated on suitable bacteriological media. Results Thirty‐three separate genera were detected in sputum samples of PCD patients, and 41 were in nasal samples of parents. The detected genera were dominated by phyla Proteobacteria in PCD patients and their parents. Culture‐dependent analyses could not detect many of the bacterial species detected with culture‐independent analyses. There were no significant differences in alpha diversity between the siblings' pairs, and siblings' samples did not cluster together nearly as strongly as nonsiblings' samples. Patients who had no new complaints and no bacterial growth with the culture‐dependent method at the time of study and patients who had no Haemophilus influenzae growth in the previous year had a significantly greater diversity ( p < .05). Microbiota communities tended to cluster together by age, pulmonary exacerbation status, the existence of at least one H. influenzae growth with culture‐dependent analyses in the previous year, and forced expiratory volume in 1 sec z and FEF25‐75 z‐scores. Conclusion The airway microbiota of patients with PCD have presented more diverse bacterial communities than had been indicated with culture‐dependent methods. The study identifies relationships between bacterial airway microbiota composition and the clinical measures of patients. Sibling pairs have no more community similarities than nonsibling PCD patients. Our results may indicate that the patients' clinical characteristics, which determine the disease severity, might affect the PCD microbiome.
Background. Takayasu arteritis (TA) is an idiopathic chronic inflammatory arteritis that affects the large blood vessels. Pulmonary involvement was considered an uncommon manifestation of the disease and spontaneous pneumothorax has not been previously described in association with TA. Case. We report a 13-year-old female who had TA complicated by spontaneous pneumothorax during treatment. She was admitted to the hospital reporting difficulty standing from a squatting position and inability to walk without support. She had been diagnosed with dilate cardiomyopathy four years ago and cardiac functions had deteriorated over time. Catheter angiography revealed diffuse narrowing of the abdominal aorta. In magnetic resonance angiography, total-subtotal occlusion of the infrarenal abdominal aorta in a 2 cm area and subtotal occlusion of the left renal artery were detected without pulmonary artery involvement. Methotrexate, azathioprine, and prednisolone were administered. Tension pneumothorax developed on the left side while she was on prednisolone treatment. Conclusion. To our knowledge, this is the first case of spontaneous pneumothorax associated with TA to be reported in the literature.
Background and Objectives. Patients with cystic fibrosis (CF) have a varying spectrum of clinically significant Aspergillus disease in addition to allergic bronchopulmonary aspergillosis (ABPA). Here we aimed to review the different clinical phenotypes related with Aspergillus growth on the airway culture of patients with CF, we also aimed to investigate the effect of Aspergillus growth on lung function tests. Method. The medical records of 100 patients with CF who had Aspergillus growth on airway culture within the period of April 2001 and June 2016 were retrospectively analyzed. Age, gender, symptoms, physical examination findings, pulmonary function tests, the diagnosis of ABPA, and airway culture results were recorded for every visit. Patients with Aspergillus growth on airway cultures were classified into different groups as ABPA, Aspergillus sensitization, Aspergillus colonization and Aspergillus bronchitis. Results. Medical records of 83 patients and 147 sputum cultures were attained from 100 patients. The mean age of the patients was 17.6±7.6 years and the mean age of the first Aspergillus growth in sputum culture was 12.5±6.7 years. At first isolation, Aspergillus fumigatus SC was the most common Aspergillus SC in sputum (76.3%) and 14.5% of these patients required hospitalization. Aspergillus sensitization was diagnosed in 3.6% (n= 3) of the patients. Aspergillus colonization was diagnosed in 18.1% (n= 15) of all patients and led to a decline in FEV1%, FVC% and FEF25-75% which was not statistically significant, furthermore. ABPA was detected in 9.6% (n= 8) of all patients and led to a statistically significant decline in FEV1% (p= 0.02); nonsignificant decline in FVC% and FEF25-75%. Aspergillus bronchitis was detected in 43.4% (n= 36) of all patients and led to nonsignificant decline in FEV1%, FVC% and FEF25-75%. Conclusion. ABPA is recognized as the most common Aspergillus associated disorder in CF patients and is related to deteriorated pulmonary function tests; however Aspergillus colonization and bronchitis may also be associated with worsening lung function.
