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4.
BMC Pulm Med ; 18(1): 194, 2018 Dec 18.
Artigo em Inglês | MEDLINE | ID: mdl-30563485

RESUMO

BACKGROUND: The present study aimed to develop an automated computed tomography (CT) score based on the CT quantification of high-attenuating lung structures, in order to provide a quantitative assessment of lung structural abnormalities in patients with Primary Ciliary Dyskinesia (PCD). METHODS: Adult (≥18 years) PCD patients who underwent both chest CT and spirometry within a 6-month period were retrospectively included. Commercially available lung segmentation software was used to isolate the lungs from the mediastinum and chest wall and obtain histograms of lung density. CT-density scores were calculated using fixed and adapted thresholds based on various combinations of histogram characteristics, such as mean lung density (MLD), skewness, and standard deviation (SD). Additionally, visual scoring using the Bhalla score was performed by 2 independent radiologists. Correlations between CT scores, forced expiratory volume in 1 s (FEV1) and forced vital capacity (FVC) were evaluated. RESULTS: Sixty-two adult patients with PCD were included. Of all histogram characteristics, those showing good positive or negative correlations to both FEV1 and FVC were SD (R = - 0.63 and - 0.67; p < 0.001) and Skewness (R = 0.67 and 0.67; p < 0.001). Among all evaluated thresholds, the CT-density score based on MLD + 1SD provided the best negative correlation with both FEV1 (R = - 0.68; p < 0.001) and FVC (R = - 0.71; p < 0.001), close to the correlations of the visual score (R = - 0.60; p < 0.001 for FEV1 and R = - 0.62; p < 0.001, for FVC). CONCLUSIONS: Automated CT scoring of lung structural abnormalities lung in primary ciliary dyskinesia is feasible and may prove useful for evaluation of disease severity in the clinic and in clinical trials.


Assuntos
Transtornos da Motilidade Ciliar/diagnóstico por imagem , Interpretação de Imagem Assistida por Computador , Síndrome de Kartagener/diagnóstico por imagem , Pneumopatias/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Adulto , Transtornos da Motilidade Ciliar/complicações , Transtornos da Motilidade Ciliar/fisiopatologia , Feminino , Volume Expiratório Forçado , Humanos , Síndrome de Kartagener/complicações , Síndrome de Kartagener/fisiopatologia , Pneumopatias/etiologia , Pneumopatias/fisiopatologia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Índice de Gravidade de Doença , Capacidade Vital , Adulto Jovem
6.
Biomed Res Int ; 2018: 1854269, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29511670

RESUMO

Primary ciliary dyskinesia (PCD) is a clinical rare peculiar disorder, mainly featured by respiratory infection, tympanitis, nasosinusitis, and male infertility. Previous study demonstrated it is an autosomal recessive disease and by 2017 almost 40 pathologic genes have been identified. Among them are the leucine-rich repeat- (LRR-) containing 6 (LRRC6) codes for a 463-amino-acid cytoplasmic protein, expressed distinctively in motile cilia cells, including the testis cells and the respiratory epithelial cells. In this study, we applied whole-exome sequencing combined with PCD-known genes filtering to explore the genetic lesion of a PCD patient. A novel compound heterozygous mutation in LRRC6 (c.183T>G/p.N61K; c.179-1G>A) was identified and coseparated in this family. The missense mutation (c.183T>G/p.N61K) may lead to a substitution of asparagine by lysine at position 61 in exon 3 of LRRC6. The splice site mutation (c.179-1G>A) may cause a premature stop codon in exon 4 and decrease the mRNA levels of LRRC6. Both mutations were not present in our 200 local controls, dbSNP, and 1000 genomes. Three bioinformatics programs also predicted that both mutations are deleterious. Our study not only further supported the importance of LRRC6 in PCD, but also expanded the spectrum of LRRC6 mutations and will contribute to the genetic diagnosis and counseling of PCD patients.


Assuntos
Cílios/genética , Síndrome de Kartagener/genética , Proteínas/genética , Sequenciamento Completo do Exoma , China , Cílios/patologia , Proteínas do Citoesqueleto , Exoma/genética , Feminino , Predisposição Genética para Doença , Heterozigoto , Humanos , Síndrome de Kartagener/diagnóstico por imagem , Síndrome de Kartagener/patologia , Masculino , Mutação , Linhagem , Tomografia Computadorizada por Raios X
7.
Rev. patol. respir ; 21(1): 17-24, ene.-mar. 2018. ilus, tab
Artigo em Espanhol | IBECS | ID: ibc-173347

RESUMO

La discinesia ciliar primaria (DCP) es una enfermedad rara, heterogénea desde el punto de vista clínico, que se transmite con una herencia principalmente autosómica recesiva y se engloba dentro de los trastornos de la motilidad ciliar. Es causa de patología tanto a nivel de las vías respiratorias superiores como inferiores -que comienza en el primer año de vida y evoluciona a un daño pulmonar progresivo-, infertilidad y alteraciones de la posición de los órganos internos. El propósito de esta revisión es proporcionar una actualización sobre las manifestaciones clínicas, diagnóstico y tratamiento de la DCP para que exista un mayor nivel de alerta sobre esta enfermedad e incidir en la necesidad de crear registros de pacientes que nos hagan entender mejor la fisiopatología y progresión de la enfermedad (AU)


Primary ciliary dyskinesia (PCD) is a rare and heterogeneous from the clinical point of view disease, mostly autosomal recessive inherited, characterized by motile ciliary dysfunction. It causes chronic upper and lower respiratory tract disease, starting in the first year of life and resulting in progressive lung damage, infertility and situs anomalies. The aim of this review is to provide an update on the diagnosis and treatment of PCD to increase the clinicia's awareness of this disorder and high-light the need to create patient registries that give us a better understanding of the physiopathology and disease's progression


Assuntos
Humanos , Síndrome de Kartagener/complicações , Síndrome de Kartagener/diagnóstico por imagem , Cílios , Mutação
8.
Respir Med ; 131: 241-246, 2017 10.
Artigo em Inglês | MEDLINE | ID: mdl-28947038

RESUMO

BACKGROUND: Airway infections in Primary Ciliary Dyskinesia (PCD) are caused by different microorganisms, including pseudomonas aeruginosa (PA). The aim of this study was to investigate the association of PA colonization and the progression of lung disease in PCD. METHODS: Data from 11PCD centers were retrospectively collected from 2008 to 2013. Patients were considered colonized if PA grew on at least two separate sputum cultures; otherwise, they were classified as non-colonized. These two groups were compared on the lung function computed tomography (CT) Brody score and other clinical parameters. RESULTS: Data were available from 217 patients; 60 (27.6%) of whom were assigned to the colonized group. Patients colonized with PA were older and were diagnosed at a later age. Baseline forced expiratory volume at 1 s (FEV1) was lower in the colonized group (72.4 ± 22.0 vs. 80.1 ± 18.9, % predicted, p = 0.015), but FEV1 declined throughout the study period was similar in both groups. The colonized group had significantly worse CT-Brody scores (36.07 ± 24.38 vs. 25.56 ± 24.2, p = 0.034). A subgroup analysis with more stringent definitions of colonization revealed similar results. CONCLUSIONS: Lung PA colonization in PCD is associated with more severe disease as shown by the FEV1 and CT score. However, the magnitude of decline in pulmonary function was similar in colonized and non-colonized PCD patients.


Assuntos
Portador Sadio/fisiopatologia , Síndrome de Kartagener/microbiologia , Infecções por Pseudomonas/fisiopatologia , Pseudomonas aeruginosa , Escarro/microbiologia , Adolescente , Adulto , Idoso , Portador Sadio/diagnóstico por imagem , Criança , Pré-Escolar , Progressão da Doença , Feminino , Volume Expiratório Forçado , Humanos , Lactente , Recém-Nascido , Síndrome de Kartagener/diagnóstico por imagem , Síndrome de Kartagener/fisiopatologia , Masculino , Pessoa de Meia-Idade , Infecções por Pseudomonas/diagnóstico por imagem , Estudos Retrospectivos , Índice de Gravidade de Doença , Tomografia Computadorizada por Raios X , Adulto Jovem
9.
Eur Spine J ; 26(6): 1595-1599, 2017 06.
Artigo em Inglês | MEDLINE | ID: mdl-28180983

RESUMO

PURPOSE: Primary ciliary dyskinesia (PCD) is a respiratory syndrome in which 'random' organ orientation can occur; with approximately 46% of patients developing situs inversus totalis at organogenesis. The aim of this study was to explore the relationship between organ anatomy and curve convexity by studying the prevalence and convexity of idiopathic scoliosis in PCD patients with and without situs inversus. METHODS: Chest radiographs of PCD patients were systematically screened for existence of significant lateral spinal deviation using the Cobb angle. Positive values represented right-sided convexity. Curve convexity and Cobb angles were compared between PCD patients with situs inversus and normal anatomy. RESULTS: A total of 198 PCD patients were screened. The prevalence of scoliosis (Cobb >10°) and significant spinal asymmetry (Cobb 5-10°) was 8 and 23%, respectively. Curve convexity and Cobb angle were significantly different within both groups between situs inversus patients and patients with normal anatomy (P ≤ 0.009). Moreover, curve convexity correlated significantly with organ orientation (P < 0.001; ϕ = 0.882): In 16 PCD patients with scoliosis (8 situs inversus and 8 normal anatomy), except for one case, matching of curve convexity and orientation of organ anatomy was observed: convexity of the curve was opposite to organ orientation. CONCLUSIONS: This study supports our hypothesis on the correlation between organ anatomy and curve convexity in scoliosis: the convexity of the thoracic curve is predominantly to the right in PCD patients that were 'randomized' to normal organ anatomy and to the left in patients with situs inversus totalis.


Assuntos
Síndrome de Kartagener/patologia , Escoliose/patologia , Situs Inversus/patologia , Adolescente , Adulto , Idoso , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Síndrome de Kartagener/complicações , Síndrome de Kartagener/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Prevalência , Radiografia , Escoliose/diagnóstico por imagem , Escoliose/epidemiologia , Escoliose/etiologia , Situs Inversus/complicações , Situs Inversus/diagnóstico por imagem , Adulto Jovem
11.
Przegl Lek ; 73(2): 108-10, 2016.
Artigo em Polonês | MEDLINE | ID: mdl-27197433

RESUMO

INTRODUCTION: Kartagener syndrome is a very rare, congenital, cilia-related disease comprising a triad of bronchiectasis, sinusitis and situs inversus. It is diagnosed in about 50% patients with primary ciliary dyskinesia (PCD). CASE REPORT: The authors report a case of a 72-year old female patient with a history of chronic cough and expectoration of muco-purulent secretion. An X-Ray examination in Posterior-Anterior projection revealed an abnormal configuration of chest's organs. Diagnosis was complemented with Computed Tomography (CT) of chest and paranasal sinuses and laboratory tests as well. Compilation of clinical symptoms and test results led to the diagnosis of Kartagener syndrome. CONCLUSION: This case report shows the usefulness of diagnostic imaging in the diagnostic process of Kartagener syndrome, as well as during subsequent monitoring of the disease.


Assuntos
Síndrome de Kartagener/diagnóstico por imagem , Idoso , Tosse , Feminino , Humanos , Síndrome de Kartagener/diagnóstico , Tomografia Computadorizada por Raios X
12.
J Cardiothorac Surg ; 11: 37, 2016 Mar 09.
Artigo em Inglês | MEDLINE | ID: mdl-26960394

RESUMO

BACKGROUND: Kartagener syndrome (KS) is a rare disorder characterized by the triad of chronic sinusitis, bronchiectasis, and situs inversus. CASE PRESENTATION: A 23-year-old man was admitted to our hospital because of recurrent cough with purulent expectoration, which had occurred intermittently for the past ten years. During the past 3 years, the episode frequency was 3-4 times per year. He was diagnosed with pulmonary infection and bronchiectasis of the left upper lobe, situs inversus, and KS. We concluded that the damaged left middle lobe was the source of repeat pulmonary infections. Thus the left middle lobe resection was performed to remove the source of the lung infection. CONCLUSIONS: The post-operative course was successful and pneumonia was apparently resolved during the 6 months' follow-up period. We further describe this case in the following report.


Assuntos
Bronquiectasia/cirurgia , Síndrome de Kartagener/cirurgia , Pulmão/cirurgia , Bronquiectasia/diagnóstico por imagem , Humanos , Síndrome de Kartagener/diagnóstico por imagem , Masculino , Pneumonia/diagnóstico , Período Pós-Operatório , Radiografia , Resultado do Tratamento , Adulto Jovem
13.
Vojnosanit Pregl ; 73(9): 873-6, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29320622

RESUMO

Introduction: Kartagener's syndrome is a recessive autosomal disease which is mainly seen to affect ciliary movement. The symptoms of the syndrome are the consequence of the defective motility of the cilia found in the respiratory tract and that results with recurrent lung infections caused by mucus stasis in the bronchi. Case report: A 37-year-old married, male father of one child, presented with a history of productive cough, wheezing, dispnea, headache, temporary fever. In his 9th year of age, 1986, situs inversus, sinusitis and pectus excavatum were diagnosed. In 1994 he was operated for correction of pectus excavatum. Bronchial asthma was diagnosed in 2008 when he was 31. In the last 2 years he had episodes of breathlessness, wheezing, cough, expectoration, headache, fever and fast declining lung function. The patient was treated with combination of inhaled bronchodilatators (inhaled corticosteroids + long-acting ß-2 agonist), and occasional administration of antibiotics, oral prednisolone, mucolytics in episodes of exacerbations of disease over a period of 7−14 days. Conclusion: Treatment for patients with this syndrome has not been established yet, but it is important to control chronic lung infections and prevent declining of lung function.


Assuntos
Síndrome de Kartagener , Pulmão , Administração por Inalação , Adulto , Antibacterianos/administração & dosagem , Broncodilatadores/administração & dosagem , Progressão da Doença , Expectorantes/administração & dosagem , Glucocorticoides/administração & dosagem , Humanos , Síndrome de Kartagener/complicações , Síndrome de Kartagener/diagnóstico por imagem , Síndrome de Kartagener/tratamento farmacológico , Síndrome de Kartagener/fisiopatologia , Pulmão/diagnóstico por imagem , Pulmão/efeitos dos fármacos , Pulmão/fisiopatologia , Masculino , Fatores de Tempo , Tomografia Computadorizada por Raios X , Resultado do Tratamento
14.
Afr Health Sci ; 16(4): 954-961, 2016 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28479887

RESUMO

BACKGROUND: Primary ciliary dyskinesia (PCD) is rare. Its diagnosis requires experienced specialists and expensive infrastructure. Its prognosis is variable. OBJECTIVE: To study the long-term outcome of PCD in Tunisian children with ciliary ultra-structure defects detected by electron microscope. METHODS: Covering a period of 20 years (1996-2015), this retrospective study included all patients with definite PCD (outer dynein arms (DA) defects and/or situs inversus) and presumed PCD (other ciliary ultra-structure defects). The clinical data and the investigations made were registered at diagnosis and during the follow-up. RESULTS: Patients with a definite PCD (G1, n=7) were diagnosed earlier compared to those with a presumed PCD (G2, n=13) (2.5 vs. 9.3 years on average). At diagnosis, bronchiectasis was more frequent in G1 (3/7 vs. 4/13). The inner DA loss was constant in G1 and predominant in G2. The treatment adhesion was more often irregular in G2 (2/7 vs. 8/13). During a mean follow-up of 11 years, G1 showed less severe outcome (clubbing (0 vs. 3), bronchiectasis (3 vs. 11; more expanded in G2), proximal and distal airway obstruction (0/3 vs. 5/7), lobectomy (0 vs. 2), and death (0 vs. 2)). CONCLUSION: Precocious diagnosis and regular treatment may enhance the PCD prognosis.


Assuntos
Síndrome de Kartagener/diagnóstico , Síndrome de Kartagener/fisiopatologia , Adolescente , Obstrução das Vias Respiratórias/fisiopatologia , Bronquiectasia/fisiopatologia , Criança , Pré-Escolar , Estudos Transversais , Diagnóstico Precoce , Feminino , Humanos , Lactente , Síndrome de Kartagener/diagnóstico por imagem , Masculino , Microscopia Eletrônica de Transmissão , Pneumonia/fisiopatologia , Estudos Retrospectivos , Índice de Gravidade de Doença
15.
BMJ Case Rep ; 20152015 Sep 09.
Artigo em Inglês | MEDLINE | ID: mdl-26354839

RESUMO

A 39-year-old woman with known situs inversus and a medical history of asthma had been suffering from recurring bronchial pneumonias and sinusitis for as long as she could remember. After being treated several times with antibiotics due to the frequent respiratory infections and after a CT scan that showed bilateral bronchiectasis, she was referred to the department of respiratory diseases, where another confirming X-ray and a bronchoscopy were performed based on a suspicion of Kartagener's syndrome.


Assuntos
Brônquios/patologia , Síndrome de Kartagener/diagnóstico , Infecções Respiratórias/diagnóstico , Situs Inversus/diagnóstico por imagem , Adulto , Antibacterianos/uso terapêutico , Asma/etiologia , Bronquiectasia , Broncopneumonia/etiologia , Feminino , Humanos , Síndrome de Kartagener/diagnóstico por imagem , Síndrome de Kartagener/patologia , Recidiva , Infecções Respiratórias/diagnóstico por imagem , Infecções Respiratórias/etiologia , Sinusite/etiologia , Tomografia Computadorizada por Raios X
16.
Clin Nucl Med ; 40(11): 922-3, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26284775

RESUMO

A 45-year-old woman with pathologically confirmed adenocarcinoma of the cervix uteri and endometrium underwent FDG PET/CT for staging. No metastasis was found. However, the images revealed bronchiectasis, sinusitis, and situs inversus totalis, which are the triad of Kartagener syndrome.


Assuntos
Adenocarcinoma/diagnóstico por imagem , Síndrome de Kartagener/diagnóstico por imagem , Tomografia por Emissão de Pósitrons , Tomografia Computadorizada por Raios X , Neoplasias Uterinas/diagnóstico por imagem , Adenocarcinoma/complicações , Feminino , Fluordesoxiglucose F18 , Humanos , Síndrome de Kartagener/complicações , Pessoa de Meia-Idade , Imagem Multimodal , Compostos Radiofarmacêuticos , Neoplasias Uterinas/complicações
18.
Rom J Morphol Embryol ; 55(2 Suppl): 697-701, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25178347

RESUMO

Primary ciliary dyskinesia (PCD) is associated with abnormalities in the structure of a function of motile cilia, causing impairment of muco-ciliary clearence, with bacterial overinfection of the upper and lower respiratory tract (chronic oto-sino-pulmonary disease), heterotaxia (situs abnormalities), with/without congenital heart disease, abnormal sperm motility with male infertility, higher frequency of ectopic pregnancy and female subfertility. The presence of recurrent respiratory tract infections in the pediatric age requires differentiation between primary immunodeficiency, diseases with abnormal mucus (e.g., cystic fibrosis) and abnormal ciliary diseases. This case was hospitalized for recurrent respiratory tract infections and total situs inversus at the age of five years, which has enabled the diagnosis of Kartagener syndrome. The PCD confirmation was performed by electron microscopy examination of nasal mucosa cells through which were confirmed dynein arms abnormalities. The diagnosis and early treatment of childhood PCD allows a positive development and a good prognosis, thus improving the quality of life.


Assuntos
Cílios/ultraestrutura , Síndrome de Kartagener/diagnóstico , Microscopia Eletrônica , Criança , Cílios/patologia , Dextrocardia/complicações , Dextrocardia/diagnóstico por imagem , Eletrocardiografia , Humanos , Síndrome de Kartagener/complicações , Síndrome de Kartagener/diagnóstico por imagem , Masculino , Radiografia Abdominal , Radiografia Torácica , Ultrassonografia
19.
J Pediatr ; 165(4): 858-61, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25066065

RESUMO

Cri du chat syndrome (CdCS) and primary ciliary dyskinesia (PCD) are rare diseases that present with frequent respiratory symptoms. PCD can be caused by hemizygous DNAH5 mutation in combination with a 5p segmental deletion attributable to CdCS on the opposite chromosome. Chronic oto-sino-pulmonary symptoms or organ laterality defects in CdCS should prompt an evaluation for PCD.


Assuntos
Cromossomos Humanos Par 5/genética , Síndrome do Miado do Gato/diagnóstico por imagem , Síndrome do Miado do Gato/genética , Síndrome de Kartagener/diagnóstico por imagem , Síndrome de Kartagener/genética , Mutação , Dineínas do Axonema/genética , Criança , Deleção Cromossômica , Mapeamento Cromossômico , Códon , Feminino , Hemizigoto , Humanos , Masculino , Fenótipo , Radiografia , Transtornos Respiratórios/diagnóstico por imagem , Transtornos Respiratórios/genética
20.
Chest ; 144(6): 1883-1892, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23948769

RESUMO

BACKGROUND: Multiple causes for tree-in-bud (TIB) opacities have been reported. However, to our knowledge the relative frequencies of the causes have not been evaluated. The purpose of this study was to determine the relative frequency of causes of TIB opacities and identify patterns of disease associated with TIB opacities. METHODS: Cases with TIB opacities in the radiology report in 2010 were identified by searching the Radiology Information System. Medical records and CT scan examinations were reviewed for the causes of TIB opacities. Patterns of disease associated with TIB opacities were evaluated. RESULTS: Causes for TIB opacities were established in 166 of 406 (40.9%) cases. Respiratory infections (119 of 166, 72%) with mycobacteria (65 of 166, 39%), bacteria (44 of 166, 27%), viruses (four of 166, 3%), or multiple organisms (six of 166, 4%) were most common. Aspiration was the cause in 42 of 166 (25%). Alternating areas of normal lung with regions of small airways disease (TIB opacities, bronchiectasis) (random small airways pattern) was specific (0.92) for Mycobacterium avium complex infection. Nearly uniform distribution of bronchiectasis (widespread bronchiectasis pattern) was specific for "diseases predisposing to airway infection" (specificity 0.92), such as cystic fibrosis, primary ciliary dyskinesia, allergic bronchopulmonary aspergillosis, and immunodeficiency states. Consolidation and TIB opacities (bronchopneumonia pattern) were usually due to bacterial infection or aspiration. Dependent distribution (specificity 0.79) and esophageal abnormality (specificity 0.86) with TIB opacities were associated with aspiration. Chronicity of findings was associated with mycobacterial infection (P < .0001, sensitivity 0.96). Acuteness of findings was associated with bacterial infection (P < .001, specificity 0.87). CONCLUSIONS: TIB opacities are most often a manifestation of infections or aspiration. Patterns of disease can provide clues to the most likely diagnosis.


Assuntos
Pulmão/diagnóstico por imagem , Aspiração Respiratória/diagnóstico por imagem , Infecções Respiratórias/diagnóstico por imagem , Tomografia Computadorizada por Raios X/métodos , Fibrose Cística/diagnóstico , Fibrose Cística/diagnóstico por imagem , Humanos , Síndrome de Kartagener/diagnóstico , Síndrome de Kartagener/diagnóstico por imagem , Pulmão/patologia , Infecções por Mycobacterium/diagnóstico , Infecções por Mycobacterium/diagnóstico por imagem , Aspergilose Pulmonar/diagnóstico , Aspergilose Pulmonar/diagnóstico por imagem , Aspiração Respiratória/diagnóstico , Infecções Respiratórias/diagnóstico , Estudos Retrospectivos , Sensibilidade e Especificidade
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