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1.
Neumol. pediátr. (En línea) ; 14(2): 76-80, jul. 2019. ilus
Artigo em Espanhol | LILACS | ID: biblio-1014992

RESUMO

Primary ciliary dyskinesia is a congenital disorder due to abnormal motile ciliary function, especially in the airway epithelium. The mucociliary clearance is impaired, producing reoccurring respiratory tract infections, usually resulting in bronchiectasis as an adult. Patients also have frequent ear and sinus infections and almost 50% of them have situs inversus. Diagnosis of primary ciliary dyskinesia is difficult because there is not a single gold standard test, resulting in the need of a multi-test approach. Until recently in our country we only had transmission electron microscopy, but nasal nitric oxide and high speed video microscopy are now available. In this article we will detail the most important clinical characteristics that make us suspect the presence of primary ciliary dyskinesia at different ages and the methods available for its diagnosis.


La discinesia ciliar primaria es una enfermedad congénita debida a una alteración del movimiento normal de los cilios, especialmente a nivel del epitelio respiratorio. Esto se traduce en una alteración del clearance mucociliar lo que predispone al paciente a tener infecciones respiratorias repetidas, terminando en la aparición de bronquiectasias en la edad adulta. También son frecuentes las infecciones repetidas de oídos y cavidades perinasales. La presencia de situs inverso puede verse en hasta en 50% de los pacientes con esta enfermedad. El diagnóstico de discinesia ciliar primaria es difícil ya que no existe un examen que sea considerado patrón de oro, por lo que se requiere la realización de distintos exámenes. En nuestro país hasta hace poco tiempo solo contábamos con la microscopía electrónica, pero recientemente se ha sumado la medición de óxido nítrico nasal y la videomicroscopía de alta velocidad. En el presente artículo se detallarán las características clínicas más importantes que hacen sospechar la presencia de DCP en las distintas edades y los métodos disponibles para su diagnóstico.


Assuntos
Humanos , Recém-Nascido , Pré-Escolar , Adulto , Síndrome de Kartagener/diagnóstico , Síndrome de Kartagener/genética , Síndrome de Kartagener/terapia , Cílios/ultraestrutura , Biópsia , Algoritmos , Testes Genéticos , Microscopia de Vídeo , Microscopia Eletrônica de Transmissão , Óxido Nítrico/análise
2.
Neumol. pediátr. (En línea) ; 14(2): 81-85, jul. 2019.
Artigo em Espanhol | LILACS | ID: biblio-1014999

RESUMO

At present, there is no specific treatment for primary ciliary dyskinesia, nor controlled and randomized clinical trials to determine how the management and monitoring of these patients should be considered. The therapeutic options are extrapolated from other diseases, such as cystic fibrosis, or non-cystic fibrosis bronchiectasis. However, the implementation of specific groups of experts, both in the USA (PDC-foundation) and in Europe (BESTCILIA or BEAT-PD), are helping to increase knowledge of the disease, opening research channels and seeking new treatments. Until we have therapies capable of correcting the basic defect of the disease, the pillars of treatment are the daily cleansing of the airways and aggressive antibiotherapy against respiratory infections. Multidisciplinary care in specialized centers where pulmonary function is monitored and the infection is prevented and treated will improve, as in cystic fibrosis, the results of patients.


En la actualidad no existe un tratamiento específico para la discinesia ciliar primaria, ni se cuenta con ensayos clínicos controlados y randomizados que permitan determinar cómo debe plantearse el manejo y seguimiento de estos pacientes. Las opciones terapéuticas son extrapoladas de otras enfermedades, como la fibrosis quística, o las bronquiectasias no fibrosis quística. Sin embargo, la puesta en marcha de grupos específicos de expertos, tanto en USA (PDC-foundation) como en Europa (BESTCILIA o BEAT-PD), están permitiendo incrementar el conocimiento de la enfermedad, abriendo vías de investigación y buscando nuevos tratamientos. Hasta contar con terapias capaces de corregir el defecto básico de la enfermedad, los pilares del tratamiento son la limpieza diaria de las vías aéreas y la antibioterapia agresiva frente a las infecciones respiratorias. La atención multidisciplinar en centros especializados donde se monitorice la función pulmonar y se prevengan y traten las infecciones mejorará, como en la fibrosis quística, los resultados de los pacientes.


Assuntos
Humanos , Síndrome de Kartagener/diagnóstico , Síndrome de Kartagener/fisiopatologia , Síndrome de Kartagener/genética , Síndrome de Kartagener/terapia , Infecções Respiratórias/tratamento farmacológico , Seguimentos , Pneumopatias/fisiopatologia , Pneumopatias/terapia , Pneumopatias Fúngicas
3.
Neumol. pediátr. (En línea) ; 14(2): 100-104, jul. 2019. ilus
Artigo em Espanhol | LILACS | ID: biblio-1015017

RESUMO

Primary ciliary dyskinesia is a rare autosomal recessive disease with compromised mucociliary drainage. Among the most commonly recommended non-pharmacological therapeutic strategies are secretion drainage techniques. However, the evidence for the use and effectiveness of these techniques is low, and they are generally based on extrapolated evidence of cystic fibrosis. This article reviews the recommendations and available evidence of chest physiotherapy, mainly manual and instrumental techniques of bronchial drainage and physical exercise in children with primary ciliary dyskinesia.


La disquinesia ciliar primaria es una enfermedad autosómica recesiva rara con compromiso del drenaje mucociliar. Entre las estrategias terapéuticas no farmacológicas más comúnmente recomendadas se encuentra las técnicas de drenaje de secreciones. Sin embargo, la evidencia del uso y efectividad de estas técnicas es reducida y generalmente se basan en evidencia extrapolada de la fibrosis quística. Este artículo revisa las recomendaciones y la evidencia disponible de la kinesiología respiratoria, principalmente las técnicas manuales e instrumentales de drenaje bronquial y el ejercicio físico en niños con disquinesia ciliar primaria.


Assuntos
Humanos , Lactente , Criança , Adulto , Pneumonia/terapia , Terapia Respiratória/métodos , Síndrome de Kartagener/diagnóstico , Modalidades de Fisioterapia , Exercício/fisiologia , Drenagem/instrumentação , Secreções Corporais
4.
Kyobu Geka ; 72(3): 199-203, 2019 Mar.
Artigo em Japonês | MEDLINE | ID: mdl-30923296

RESUMO

We report a new-born case of total conus defect type ventricular septal defect (VSD) and single coronary artery with situs inversus totalis, suspected Kartagener syndrome clinically. After the birth, as the patient had suffered from respiratory distress due to high pulmonary blood flow through the large defect, surgery was planned at age of 14-days after birth. Under median sternotomy and cardiac arrest, patch closure of VSD was performed as ordinary fashion. In spite of the situs inversus totalis and single coronary artery arose from right coronary sinus, operator could have completed all of surgical procedure at the right side of patient as usual. No remarkable respiratory complication was seen postoperatively and she was discharged from hospital 18th day in a good condition.


Assuntos
Síndrome de Kartagener/cirurgia , Feminino , Parada Cardíaca Induzida , Humanos , Recém-Nascido , Síndrome de Kartagener/diagnóstico , Síndrome do Desconforto Respiratório do Recém-Nascido/etiologia , Situs Inversus/complicações , Esternotomia/métodos
5.
Paediatr Respir Rev ; 29: 19-22, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30792130

RESUMO

Primary ciliary dyskinesia (PCD), also known as immotile-cilia syndrome, is a rare genetic disease that is inherited in an autosomal recessive manner. Several studies have explored certain aspects of PCD in the Arab world, yet much is still lacking in terms of identifying the different characteristics of this disease. In this paper, we aim to briefly cover those studies published about PCD in Arab countries, as well as to provide recommendations and guidelines for future studies.


Assuntos
Transtornos da Motilidade Ciliar/etnologia , Mundo Árabe , Árabes/genética , Transtornos da Motilidade Ciliar/diagnóstico , Transtornos da Motilidade Ciliar/genética , Transtornos da Motilidade Ciliar/terapia , Consanguinidade , Humanos , Síndrome de Kartagener/diagnóstico , Síndrome de Kartagener/etnologia , Síndrome de Kartagener/genética , Síndrome de Kartagener/terapia , Kuweit , Oriente Médio , Guias de Prática Clínica como Assunto , Catar , Pesquisa , Arábia Saudita , Emirados Árabes Unidos , Iêmen
6.
Swiss Med Wkly ; 1492019 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-30691261

RESUMO

Primary ciliary dyskinesia (PCD) is a rare, hereditary, multiorgan disease caused by defects in the structure and function of motile cilia. It results in a wide range of clinical manifestations, most commonly in the upper and lower airways. Central data collection in national and international registries is essential to studying the epidemiology of rare diseases and filling in gaps in knowledge of diseases such as PCD. For this reason, the Swiss Primary Ciliary Dyskinesia Registry (CH-PCD) was founded in 2013 as a collaborative project between epidemiologists and adult and paediatric pulmonologists. We describe the objectives and methodology of the CH-PCD, present initial results, and give an overview of current and ongoing projects. The registry records patients of any age, suffering from PCD, who are treated and resident in Switzerland. It collects information from patients identified through physicians, diagnostic facilities and patient organisations. The registry dataset contains data on diagnostic evaluations, lung function, microbiology and imaging, symptoms, treatments and hospitalisations. By May 2018, CH-PCD has contacted 566 physicians of different specialties and identified 134 patients with PCD. At present, this number represents an overall 1 in 63,000 prevalence of people diagnosed with PCD in Switzerland. Prevalence differs by age and region; it is highest in children and adults younger than 30 years, and in Espace Mittelland. The median age of patients in the registry is 25 years (range 5­73), and 41 patients have a definite PCD diagnosis based on recent international guidelines. Data from CH-PCD are contributed to international collaborative studies and the registry facilitates patient identification for nested studies. CH-PCD has proven to be a valuable research tool that already has highlighted weaknesses in PCD clinical practice in Switzerland. Trial registration number: NCT03606200


Assuntos
Síndrome de Kartagener/epidemiologia , Doenças Raras , Sistema de Registros , Adulto , Cílios/ultraestrutura , Feminino , Humanos , Síndrome de Kartagener/diagnóstico , Masculino , Pediatria , Prevalência , Pneumologistas , Suíça/epidemiologia
9.
J Med Case Rep ; 12(1): 5, 2018 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-29316973

RESUMO

BACKGROUND: Kartagener's syndrome is a subset of primary ciliary dyskinesia, an autosomal recessive inherited disorder characterized by the clinical triad of chronic sinusitis, bronchiectasis, and situs inversus. Abnormal ciliary structure or function leading to impaired ciliary motility is the main pathophysiologic problem in Kartagener's syndrome. CASE PRESENTATION: A 24-year-old man from Gondar town, North-West Ethiopia, presented to University of Gondar Hospital with recurrent episodes of nasal congestion with itching and paranasal discomfort, and productive cough for more than a decade. Clinical and imaging findings revealed chronic sinusitis, bronchiectasis, dextrocardia, and situs inversus. He was treated with orally administered antibiotics, mucolytic, and chest physiotherapy. He was symptomatically better with the above therapy, and started on a long-term low-dose prophylactic antibiotic. CONCLUSIONS: Patients with Kartagener's syndrome exist in Ethiopia as cases of chronic recurrent sinopulmonary infections. As there is no easy, reliable non-invasive diagnostic test for Kartagener's syndrome and the correct diagnosis is often delayed by years, it may cause chronic respiratory problems with reduced quality of life. Genetic counseling and fertility issues should be addressed once Kartagener's syndrome is diagnosed.


Assuntos
Antibacterianos/administração & dosagem , Bronquiectasia , Dextrocardia , Expectorantes/administração & dosagem , Síndrome de Kartagener , Qualidade de Vida , Sinusite , Situs Inversus , Exercícios Respiratórios/métodos , Bronquiectasia/diagnóstico , Bronquiectasia/etiologia , Bronquiectasia/fisiopatologia , Bronquiectasia/terapia , Doença Crônica , Dextrocardia/diagnóstico , Dextrocardia/etiologia , Diagnóstico Diferencial , Aconselhamento Genético , Humanos , Síndrome de Kartagener/diagnóstico , Síndrome de Kartagener/fisiopatologia , Síndrome de Kartagener/psicologia , Síndrome de Kartagener/terapia , Masculino , Administração dos Cuidados ao Paciente/métodos , Sinusite/diagnóstico , Sinusite/tratamento farmacológico , Sinusite/etiologia , Situs Inversus/diagnóstico , Situs Inversus/etiologia , Adulto Jovem
10.
Exp Clin Transplant ; 16(2): 237-241, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26976528

RESUMO

We present a 22-year-old woman with Kartagener syndrome and scoliosis who died 112 days after single lung transplant. The classic thoracic involvement of situs inversus totalis and the asymmetric arrangement of the thoracic vascular structures might be a pitfall for surgeon. Anatomic obstacles have forced the surgeon to perform a single transplant. The period of primary graft dysfunction in a single transplanted lung patient was a challenge; supporting the patient with a high flow and long period of extracorporeal membrane oxygenation might lead to a vanishing bronchus. Immotile cilia, a feature of Kartagener syndrome, were another challenge and patient needed several daily aspiration bronchoscopies. Vanishing bronchus is a gradual process with high mortality rates; commonly, stenosis is at the non anastomotic bronchial tree because of insufficient nourishment of the bronchial cartilages. Several repeat bronchoscopic balloon dilatations accompanied with medical treatment were unsuccessful.


Assuntos
Síndrome de Kartagener/cirurgia , Transplante de Pulmão/efeitos adversos , Insuficiência Respiratória/cirurgia , Escoliose/complicações , Broncoscopia , Evolução Fatal , Feminino , Humanos , Imunossupressores/uso terapêutico , Síndrome de Kartagener/complicações , Síndrome de Kartagener/diagnóstico , Insuficiência Respiratória/diagnóstico , Insuficiência Respiratória/etiologia , Fatores de Risco , Escoliose/diagnóstico , Fatores de Tempo , Resultado do Tratamento , Adulto Jovem
11.
Vestn Otorinolaringol ; 82(5): 61-63, 2017.
Artigo em Russo | MEDLINE | ID: mdl-29072668

RESUMO

This article reports a rare observation of the development of chronic polypous pansinusitis with deformation of the external nose in a 8 year-old child presenting with primary ciliary dyskinesia syndrome. The patient underwent multiple surgical interventions in the preceding period. The key argument in favour of the definitive diagnosis was the results of investigation of ciliated epithelium biopsy taken from the nasal cavity and bronchi in combination with the data obtained by diagnostic endoscopy of the nasal cavity and nasopharynx supplemented by computed tomography. The proposed treatment strategy including endoscopic endonasal pansinusotomy, antibacterial therapy taking into consideration the sensitivity of the seeded microorganism, and hormonal therapy proved optimal for the management of the given patient.


Assuntos
Síndrome de Kartagener , Pólipos Nasais , Deformidades Adquiridas Nasais , Procedimentos Cirúrgicos Otorrinolaringológicos , Infecções por Pseudomonas , Pseudomonas aeruginosa/isolamento & purificação , Sinusite , Antibacterianos/administração & dosagem , Biópsia/métodos , Criança , Endoscopia/métodos , Feminino , Humanos , Síndrome de Kartagener/complicações , Síndrome de Kartagener/diagnóstico , Síndrome de Kartagener/fisiopatologia , Depuração Mucociliar , Mucosa Nasal/patologia , Pólipos Nasais/diagnóstico , Pólipos Nasais/etiologia , Pólipos Nasais/fisiopatologia , Pólipos Nasais/cirurgia , Deformidades Adquiridas Nasais/etiologia , Deformidades Adquiridas Nasais/cirurgia , Procedimentos Cirúrgicos Otorrinolaringológicos/efeitos adversos , Procedimentos Cirúrgicos Otorrinolaringológicos/métodos , Infecções por Pseudomonas/diagnóstico , Infecções por Pseudomonas/tratamento farmacológico , Reoperação/métodos , Sinusite/diagnóstico , Sinusite/microbiologia , Sinusite/fisiopatologia , Sinusite/cirurgia , Tomografia Computadorizada Espiral/métodos , Resultado do Tratamento
12.
Top Companion Anim Med ; 32(2): 61-65, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28992906

RESUMO

A 4-year-old cocker spaniel, male, of 12kg body weight was presented because of the onset of polyuria or polydipsia. From the first months of its life, the dog had exhibited constant serous to mucopurulent nasal discharge, productive cough, sneezing, reverse sneezing, otitis, and recurrent episodes of fever. The respiratory signs had been treated several times with antibiotics, without ever achieving a complete resolution. Clinical examination revealed normal rectal temperature (38.3°C), increased respiratory rate (40breaths/min), a copious mucous nasal discharge and right deviation of the heart apex beat (ictus cordis). Increased respiratory sounds with moist rales and crackles were found on chest auscultation. An increase in serum creatinine, urea and phosphorus, hypoalbuminemia and proteinuria were found. Lateral and ventrodorsal radiographs of the thorax and of the abdomen showed the transposition of the heart, with the cardiac apex pointing toward the right (dextrocardia), bronchointerstitial lung pattern, areas of consolidation, lesions consistent with bronchiectasis caves and a mirror-image of abdominal organs, confirming the diagnosis of complete situs inversus (CSI). Respiratory signs, combined with CSI, suggested the diagnosis of Kartagener syndrome (KS). Abdominal ultrasound showed an increase in the echogenicity of the renal parenchyma, a loss of definition of the corticomedullary line, slight bilateral pyelectasis, and decreased cortical perfusion. The dog died 2 months later because of a further worsening of the clinical condition. Necroscopy demonstrated the existence of CSI, rhinosinusitis, bronchitis, and bronchiectasis, so confirming the diagnosis of KS, and renal amyloidosis. This is the first case reported in veterinary medicine of the presence of renal amyloidosis together with KS in a dog.


Assuntos
Amiloidose/veterinária , Doenças do Cão/diagnóstico , Síndrome de Kartagener/veterinária , Nefropatias/veterinária , Situs Inversus/veterinária , Amiloidose/sangue , Amiloidose/urina , Animais , Bronquiectasia/veterinária , Bronquite/veterinária , Doenças do Cão/sangue , Doenças do Cão/urina , Cães , Síndrome de Kartagener/diagnóstico , Nefropatias/sangue , Nefropatias/diagnóstico , Nefropatias/urina , Masculino , Sinusite/veterinária , Situs Inversus/diagnóstico por imagem
13.
BMJ Case Rep ; 20172017 Oct 10.
Artigo em Inglês | MEDLINE | ID: mdl-29018009

RESUMO

Ductal origin of pulmonary artery is a rare anomaly that is frequently misdiagnosed. Patients may present with exertional dyspnoea, recurrent respiratory infections and pulmonary hypertension. The presence of pulmonary hypertension can adversely affect clinical outcome in these patients; hence, early identification and intervention is the key to improve survival. A case of a 3-year-old child presenting with exertional dyspnoea is presented in this report. Chest radiograph revealed right-sided pulmonary hypoplasia and mediastinal shift to the right. Pulmonary artery agenesis was suspected when CT of the chest demonstrated right-sided pulmonary artery agenesis. Cardiac catheterisation revealed the correct diagnosis of ductal origin of right pulmonary artery. The most striking feature of this case is that the clinical presentation is mild compared with the findings on imaging.


Assuntos
Asma/diagnóstico , Dispneia/diagnóstico , Hipertensão Pulmonar/diagnóstico , Síndrome de Kartagener/diagnóstico , Artéria Pulmonar/anormalidades , Pré-Escolar , Diagnóstico Diferencial , Dispneia/etiologia , Feminino , Humanos , Hipertensão Pulmonar/etiologia , Pulmão/irrigação sanguínea , Esforço Físico
14.
Eur Respir Rev ; 26(145)2017 Sep 30.
Artigo em Inglês | MEDLINE | ID: mdl-28877972

RESUMO

Primary ciliary dyskinesia (PCD) is a rare genetic disease that affects the motility of cilia, leading to impaired mucociliary clearance. It is estimated that the vast majority of patients with PCD have not been diagnosed as such, providing a major obstacle to delivering appropriate care. Challenges in diagnosing PCD include lack of disease-specific symptoms and absence of a single, "gold standard", diagnostic test. Management of patients is currently not based on high-level evidence because research findings are mostly derived from small observational studies with limited follow-up period. In this review, we provide a critical overview of the available literature on clinical care for PCD patients, including recent advances. We identify barriers to PCD research and make suggestions for overcoming challenges.


Assuntos
Procedimentos Clínicos , Síndrome de Kartagener/terapia , Depuração Mucociliar , Procedimentos Clínicos/normas , Predisposição Genética para Doença , Humanos , Síndrome de Kartagener/diagnóstico , Síndrome de Kartagener/epidemiologia , Síndrome de Kartagener/genética , Depuração Mucociliar/genética , Fenótipo , Valor Preditivo dos Testes , Prognóstico , Encaminhamento e Consulta , Fatores de Risco
15.
Ultrastruct Pathol ; 41(6): 373-385, 2017 Nov-Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28915070

RESUMO

Primary ciliary dyskinesia (PCD) is a genetic disorder causing chronic oto-sino-pulmonary disease. No single diagnostic test will detect all PCD cases. Transmission electron microscopy (TEM) of respiratory cilia was previously considered the gold standard diagnostic test for PCD, but 30% of all PCD cases have either normal ciliary ultrastructure or subtle changes which are non-diagnostic. These cases are identified through alternate diagnostic tests, including nasal nitric oxide measurement, high-speed videomicroscopy analysis, immunofluorescent staining of axonemal proteins, and/or mutation analysis of various PCD causing genes. Autosomal recessive mutations in DNAH11 and HYDIN produce normal TEM ciliary ultrastructure, while mutations in genes encoding for radial spoke head proteins result in some cross-sections with non-diagnostic alterations in the central apparatus interspersed with normal ciliary cross-sections. Mutations in nexin link and dynein regulatory complex genes lead to a collection of different ciliary ultrastructures; mutations in CCDC65, CCDC164, and GAS8 produce normal ciliary ultrastructure, while mutations in CCDC39 and CCDC40 cause absent inner dynein arms and microtubule disorganization in some ciliary cross-sections. Mutations in CCNO and MCIDAS cause near complete absence of respiratory cilia due to defects in generation of multiple cellular basal bodies; however, the scant cilia generated may have normal ultrastructure. Lastly, a syndromic form of PCD with retinal degeneration results in normal ciliary ultrastructure through mutations in the RPGR gene. Clinicians must be aware of these genetic causes of PCD resulting in non-diagnostic TEM ciliary ultrastructure and refrain from using TEM of respiratory cilia as a test to rule out PCD.


Assuntos
Cílios/ultraestrutura , Síndrome de Kartagener/diagnóstico , Síndrome de Kartagener/genética , Microscopia Eletrônica de Transmissão , Medicina Molecular , Humanos
17.
Ultrastruct Pathol ; 41(6): 386-389, 2017 Nov-Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28925796

RESUMO

The diagnostic work-up for primary ciliary dyskinesia (PCD) traditionally includes ciliary ultrastructural assessment using transmission electron microscopy (TEM). However, the identification of genetic variants of PCD that are missed by TEM, along with the development of novel diagnostic modalities for PCD that allow structural evaluation of cilia, such as immunofluorescence analysis and the increased availability of genetic testing, calls into questioning the contemporary role of TEM in the diagnostic work-up for PCD. In this manuscript, we describe the evidence for and against the use of TEM in PCD diagnosis, in light of recent developments of PCD.


Assuntos
Cílios/ultraestrutura , Síndrome de Kartagener/diagnóstico , Microscopia Eletrônica de Transmissão , Humanos
18.
Ultrastruct Pathol ; 41(6): 408-414, 2017 Nov-Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28922052

RESUMO

Primary Ciliary Dyskinesia (PCD) is a heterogeneous genetic condition characterized by dysfunction of motile cilia. Patients suffer from chronic infection and inflammation of the upper and lower respiratory tract. Diagnosis of PCD is confirmed by identification of a hallmark defect of ciliary ultrastructure or by identification of biallelic pathogenic mutations in a known PCD gene. Since the first description of PCD in 1976, assessment of ciliary ultrastructure by transmission electron microscopy (TEM) has been central to diagnosis and research. Electron tomography is a technique whereby a series of transmission electron micrographs are collected at different angles and reconstructed into a single 3D model of a specimen. Electron tomography provides improved spatial information and resolution compared to a single micrograph. Research by electron tomography has revealed new insight into ciliary ultrastructure and consequently ciliary function at a molecular and cellular level. Gene discovery studies in PCD have utilized electron tomography to define the structural consequences of variants in cilia genes. Modern transmission electron microscopes capable of electron tomography are increasingly being installed in clinical laboratories. This presents the possibility for the use of tomography technique in a diagnostic setting. This review describes the electron tomography technique, the contribution tomography has made to the understanding of basic cilia structure and function and finally the potential of the technique for use in PCD diagnosis.


Assuntos
Cílios/ultraestrutura , Tomografia com Microscopia Eletrônica/métodos , Síndrome de Kartagener/diagnóstico , Microscopia Eletrônica de Transmissão/métodos , Humanos
19.
Ultrastruct Pathol ; 41(6): 390-398, 2017 Nov-Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28922056

RESUMO

Primary ciliary dyskinesia (PCD) is predominantly an autosomal recessively inherited condition that affects ~1 in 15,000 people. Diagnosis of PCD can be complex and is ordinarily based on the results of multiple investigations. These investigations include nasal nitric oxide, high-speed video microscopy, genotyping, and electron microscopy analysis of ciliary ultrastructure. A diagnosis is ultimately confirmed by the presence of a hallmark defect identified by transmission electron microscopy or biallelic variants in a known PCD gene. Secondary ciliary defects are commonly seen in samples submitted for diagnosis of PCD. Acquired secondary ciliary ultrastructural abnormalities, which are not caused by a variant in a ciliary gene, are usually transient and reversible however failure to separate primary versus secondary defects can lead to misdiagnosis. In this review, we describe causes of secondary ciliary defects, identify the ultrastructural appearances associated with secondary ciliary dyskinesia and finally suggest methods to avoid misdiagnosis of PCD due to these acquired ciliary defects.


Assuntos
Cílios/ultraestrutura , Síndrome de Kartagener/diagnóstico , Microscopia Eletrônica de Transmissão , Humanos
20.
Ultrastruct Pathol ; 41(6): 399-407, 2017 Nov-Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28891733

RESUMO

Routine diagnostic electron microscopy of primary ciliary dyskinesia (PCD) is based on the findings of ultrastructural defects of axonemal components. Assessment of the typical abnormalities can be enhanced by improving the sample preservation status using tannic acid (TA) as additive in the biopsy fixation or processing steps. Another option is the implementation of computer-assisted image analysis tools. Advancements in high-resolution 3D visualization of the axonemal structure have been noted, with great potential for the future diagnosis of inherited cilia disorders.


Assuntos
Axonema/ultraestrutura , Cílios/ultraestrutura , Processamento de Imagem Assistida por Computador/métodos , Imagem Tridimensional/métodos , Microscopia Eletrônica de Transmissão/métodos , Humanos , Síndrome de Kartagener/diagnóstico , Fixação de Tecidos/métodos
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