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1.
Turk Thorac J ; 23(2): 173-184, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35404250

RESUMO

This review aimed to highlight some important points derived from the presentations of the European Respiratory Society 2021 Virtual International Congress by a committee formed by the Early Career Task Group of the Turkish Thoracic Society. We summarized a wide range of topics including current developments of respiratory diseases and provided an overview of important and striking topics of the congress. Our primary motivation was to give some up-to-date information and new developments discussed during congress especially for the pulmonologists who did not have a chance to follow the congress. This review also committed an opportunity to get an overview of the newest data in the diverse fields of respiratory medicine such as post-coronavirus disease 2019, some new interventional and technologic developments related to respiratory health, and new treatment strategies.

2.
Turk J Pediatr ; 63(1): 149-154, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33686838

RESUMO

BACKGROUND: Toxic substances may be inhaled or aspirated not always by patients themselves but sometimes by healthcare providers unintentionally by nasogastric administrations or medications. Aspirated toxic particles may cause injury in the pulmonary epithelium at various levels of the respiratory tract, leading to a spectrum varying from simple symptoms to severe chronic disease. Imaging features of substances are different depending on their structure and are not well known. Moreover, on follow-up, radiologic findings are not well correlated with clinical findings which progress or recover more rapidly. CASE: In this case series, we report three different chemical pneumonitis due to aspiration of exogenous substances of paint thinner, activated charcoal and liquid paraffin. We present three cases with chest radiographs, distinctive computed tomography findings and follow-up images. CONCLUSIONS: Aspiration of exogenous materials reveals typical imaging findings such as the metallic density of charcoals, fat attenuation of liquid paraffin and necrotic areas within consolidation in hydrocarbon poisoning. Recognition of imaging findings is very important for the diagnosis and characterization of toxic substances.


Assuntos
Pneumonia Lipoide , Pneumonia , Criança , Humanos , Pulmão , Óleo Mineral , Tomografia Computadorizada por Raios X
3.
Pediatr Pulmonol ; 55(2): 383-393, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31765523

RESUMO

BACKGROUND AND OBJECTIVE: Primary ciliary dyskinesia (PCD) is a rare and genetically heterogeneous disease and the severity of the disease related with genetic analysis has been described in some previous studies. The main aim of our study was to describe the clinical characteristics and laboratory findings of patients with genetically diagnosed PCD and to investigate the correlation between clinical, radiologic, and laboratory findings and genetic analyses of these patients. METHOD: This is a cohort study in which we analyzed the clinical characteristics, laboratory findings, and genetic results of 46 patients with genetically diagnosed PCD through whole-exome sequencing at our single center from a total of 265 patients with PCD within a 5-year period. RESULTS: Genetic analysis revealed pathogenic variants in DNAH5 (n = 12 individuals, 12 families), CCDC40 (n = 9 individuals, six families), RSPH4A (n = 5 individuals, three families), DNAH11 (n = 4 individuals, four families), HYDIN (n = 5 individuals, five families), CCNO (n = 4 individuals, four families), DNAI1 (n = 2 individuals, one family), ARMC4 (n = 2 individuals, two families), TTC25 (n = 1), DNAH1 (n = 1), and CCDC39 (n = 1) genes. Although not statistically significant, the age at diagnosis was lower (median: 3 years; range, 6 months-4 years) in patients with CCNO pathogenic variants due to the early reporting of symptoms, and the median body mass index (BMI) and BMI z scores were lower in patients at 18.7 and 16 kg/m2 , and -0.78 and -1.2 with CCDC40 and CCNO pathogenic variants, respectively. The median forced expiratory flow in 1 second (FEV1%), forced vital capacity (FVC%), and forced expiratory flow (FEF)25-75% were 53%, 64%, and 28%, respectively; these parameters were also lower in the CCDC40 group than in the other groups. There was no significant correlation between the genetic results and symptoms, radiologic findings, and microbiologic data of patients with PCD. CONCLUSION: In PCD, there was significant heterogeneity of lung disease, patients who had pathogenic variants in CCNO presented earlier, and those with CCDC40 and CCNO had worse lung disease, and poorer nutritional status compared with the other subgroups. We hope that whole genotype-phenotype and clinical relationships will be identified in PCD.


Assuntos
Síndrome de Kartagener/genética , Adolescente , Criança , Pré-Escolar , Estudos de Coortes , DNA Glicosilases/genética , Feminino , Testes Genéticos , Genótipo , Humanos , Lactente , Masculino , Mutação , Fenótipo , Proteínas/genética , Turquia
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