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Estudo do Movimento Ciliar de Macrostomum Tuba Utilizando Métodos de Microscopia Eletrônica".; Study of ciliary movement of Tuba macrostomum using electron microscopy methods

Aragão, Pedro Henrique Arruda
Fonte: Biblioteca Digitais de Teses e Dissertações da USP Publicador: Biblioteca Digitais de Teses e Dissertações da USP
Tipo: Tese de Doutorado Formato: application/pdf
Publicado em 12/09/1996 PT
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36.33%
Nossa proposta de trabalho visava estudar as propriedades do movimento ciliar, aplicando técnicas de microscopia eletrônica de varredura.. Escolheu-se como material de estudo a espécie Macrostomum tuba (turbelário), bastante comum em ambientes naturais de água doce, e em aquários. Sua superfície é inteiramente revestida por cilios, que o animal usa como meio locomoção suave e rápida. Cílios são estruturas em forma de projeções delgadas de células, com uma notável organização interna, constante em todas as espécies animais, e são dotados de movimento oscilatório rítmico e autônomo. O batimento ciliar coordenado origina ondas na superfície das células, e por conseguinte, na superfície do organismo, conhecidas como ondas metacrônicas. No caso em estudo, estas ondas são sufícientes para promover o deslocamento do organismo no meIO. Estudou-se a estrutura [ma destes cílios por microscopia eletrônica de transmissão, e a sua forma durante o batimento, por microscopia eletrônica de varredura. A frequência do batimento ciliar foi determinada por microscopia de luz com fonte estroboscópica, e o movimento do organismo em meio de diferentes viscosidades, foi registrado com câmara de vídeo. Os métodos utilizados neste trabalho permitiram obter-se as seguintes informações sobre o movimento ciliar de M. tuba: 1. Os cílios têm cerca de 5f..lm de comprimento...

Um estudo da institucionalidade referente a preservação de matas ciliares : o caso do municipio de Camanducaia - MG; Study about the legal institutions regarding the prevention of ciliary forests: the case of the municipal district of Camanducaia-MG

Patricia Rose de Paiva Ferreira
Fonte: Biblioteca Digital da Unicamp Publicador: Biblioteca Digital da Unicamp
Tipo: Dissertação de Mestrado Formato: application/pdf
Publicado em 07/06/2006 PT
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A Política Ambiental do Brasil é implantada através de leis, sendo que a política de preservação das matas ciliares não é diferente. Mas para que os instrumentos preventivos e repressivos previstos nas leis surtam efeitos nos municípios, é necessária uma estrutura administrativa municipal e judiciária que cumpra os ditames legais. Deste modo, a presente pesquisa fez uma análise dos principais instrumentos legais de reservarão e de repressão adotados pela Administração Pública Municipal de Camanducaia, pelo Judiciário da Comarca e seus órgãos auxiliares nos casos de agressões praticadas contra as matas ciliares do rio Camanducaia e verificou a não efetividade do cumprimento de tais instrumentos; The Environmental Politics of Brazil is implemented though laws, and the politics of preservation of the ciliary forests is not differente. But, so that the preventive and repressive instruments foreseen in the lws supply effects in the municipal districts, it is necessary a municipal and judiciary administrative structure so that the legal dictates are accomplished. This research makes an analysis of the main legal instruments of preservation and repression adopted by the Municipal Public Administration of the city of Camanducaia...

Primary ciliary dyskinesia: a report from ATS 2001, May 18–23, San Francisco

Noone, Peadar G
Fonte: BioMed Central Publicador: BioMed Central
Tipo: Artigo de Revista Científica
EN
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36.3%
Primary ciliary dyskinesia (PCD) is a genetic disorder of abnormal ciliary structure and function that leads to defective mucociliary clearance, resulting in oto-sino-pulmonary disease, and infertility. The disease is currently under intense investigation by a number of research groups worldwide. At the recent American Thoracic Society meeting in San Francisco in May 2001, two sessions focused on PCD; a symposium session on May 21 with several featured expert speakers was followed by a mini-symposium on Tuesday May 22, with one featured speaker and presentation of nine abstracts covering a range of research topics. Mattias Salathe (University of Miami, USA) and Stephen Brody (Washington University, St Louis, USA) chaired the symposium session. Presentations focused on the clinical spectrum of PCD, the genetics of PCD, a proteomics approach to detail the structure of cilia, the role of cilia in the embryology of situs laterality, and airway epithelial cell biology. The mini-symposium was chaired by Peadar Noone (University of North Carolina, USA) and Malcolm King (University of Alberta, USA) and included presentations on the use of PCD as a human disease model, accurate definition of the phenotype using clinical and cell biologic markers...

An ultrastructural study of the tracheal epithelium of the guinea-pig with special reference to the ciliary structure.

Dalen, H
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
Publicado em /01/1983 EN
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36.07%
The ultrastructure of the normal guinea-pig tracheal mucosa has been characterised by transmission and scanning electron microscopy. The pseudostratified epithelium was composed of basal cells, goblet cells, ciliated cells and intermediate cells. Interepithelial granulocytes and lymphocytes were occasionally seen. Regional variations in the distribution of goblet cells and ciliated cells were noted, and the continual turnover of the epithelial cells was manifested in the findings of proliferating, differentiating and exfoliating cells. The function of the numerous microvilli extending into the lumen remains unknown, although the bundles of actin filaments in their core and the anionic properties of their surface suggest a dual function, as motile processes and as sites of re-absorption of excess fluid. Numerous microtubules criss-cross the apex of the ciliated cell. It is suggested that they are an integrated part of the cytoskeleton and/or are involved in some kind of intracytoplasmic transport. Other microtubules are attached to the basal feet and penetrate deep into the cytoplasm; their function has yet to be elucidated. A possible role may be that they, alone or in conjunction with the microfilaments (actin) of the cell cytoplasm...

Ciliary protein conservation during development in the ciliated protozoan, Oxytricha

Fonte: The Rockefeller University Press Publicador: The Rockefeller University Press
Tipo: Artigo de Revista Científica
Publicado em 01/12/1987 EN
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36.17%
The ciliated protozoan Oxytricha fallax possesses multiple highly localized clusters of basal bodies and cilia, all of which are broken down and rebuilt during prefission morphogenesis-with one major exception. The adoral zone of membranelles (AZM) of the ciliate oral apparatus contains approximately 1,500-2,000 basal bodies and cilia, and it is the only compound ciliary structure that is passed morphologically intact to one daughter cell at each cell division. By labeling all proteins in cells, and then picking the one daughter cell possessing the original labeled AZM, we could then evaluate whether or not the ciliary proteins of the AZM were diluted (i.e., either by degradation to constituent amino acids or by subunit exchange) during cell division. Autoradiographic analysis demonstrated that the label was highly conserved in the AZM (i.e., we saw no evidence of turnover), and electrophoretic data illustrate that at least one of the proteins of the AZM is tubulin. We, therefore, conclude that for at least some of the ciliary and basal body proteins of Oxytricha fallax, AZM morphological conservation is essentially equivalent to molecular conservation.

Mutation of Murine Adenylate Kinase 7 Underlies a Primary Ciliary Dyskinesia Phenotype

Fernandez-Gonzalez, Angeles; Kourembanas, Stella; Wyatt, Todd A.; Mitsialis, S. Alex
Fonte: American Thoracic Society Publicador: American Thoracic Society
Tipo: Artigo de Revista Científica
EN
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36.3%
Primary ciliary dyskinesia (PCD) is a genetically and phenotypically heterogeneous disorder, characterized by progressive development of bronchiectasis, inflammation, and features characteristic of chronic obstructive pulmonary disease. We report here that a murine mutation of the evolutionarily conserved adenylate kinase 7 (Ak7) gene results in animals presenting with pathological signs characteristic of PCD, including ultrastructural ciliary defects and decreased ciliary beat frequency in respiratory epithelium. The mutation is associated with hydrocephalus, abnormal spermatogenesis, mucus accumulation in paranasal passages, and a dramatic respiratory pathology upon allergen challenge. Ak7 appears to be a marker for cilia with (9 + 2) microtubular organization. This is suggested by its tissue specificity of expression and also the stringent conservation of Ak7 ortholog structure only in protozoans and metazoans possessing motile (9 + 2) cilia. Collectively, our results indicate an ancestral and crucial role of Ak7 in maintaining ciliary structure and function, and suggest that mutations of the human ortholog may underlie a subset of genetically uncharacterized PCD cases.

Ciliary Neurotrophic Factor, Cardiotrophin-like Cytokine, and Neuropoietin Share a Conserved Binding Site on the Ciliary Neurotrophic Factor Receptor α Chain*S⃞

Rousseau, François; Chevalier, Sylvie; Guillet, Catherine; Ravon, Elisa; Diveu, Caroline; Froger, Josy; Barbier, Fabien; Grimaud, Linda; Gascan, Hugues
Fonte: American Society for Biochemistry and Molecular Biology Publicador: American Society for Biochemistry and Molecular Biology
Tipo: Artigo de Revista Científica
Publicado em 31/10/2008 EN
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Ciliary neurotrophic factor, cardiotrophin-like cytokine, and neuropoietin are members of the four-helix bundle cytokine family. These proteins signal through a common tripartite receptor composed of leukemia inhibitory factor receptor, gp130, and ciliary neurotrophic factor receptor α. Binding to ciliary neurotrophic factor receptor α occurs through an interaction site located at the C terminus of the cytokine AB loop and αD helix, known as site 1. In the present study, we have generated a model of neuropoietin and identified a conserved binding site for the three cytokines interacting with ciliary neurotrophic factor receptor α. To identify the counterpart of this site on ciliary neurotrophic factor receptor α, its cytokine binding domain was modeled, and the physicochemical properties of its surface were analyzed. This analysis revealed an area displaying properties complementary to the site 1 of ciliary neurotrophic factor, cardiotrophin-like cytokine, and neuropoietin. Based on our computational predictions, residues were selected for their potential involvement in the ciliary neurotrophic factor receptor α binding epitope, and site-directed mutagenesis was carried out. Biochemical, cell proliferation, and cell signaling analyses showed that Phe172 and Glu286 of ciliary neurotrophic factor receptor α are key interaction residues. Our results demonstrated that ciliary neurotrophic factor...

Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3

Tammachote, Rachaneekorn; Hommerding, Cynthia J.; Sinders, Rachel M.; Miller, Caroline A.; Czarnecki, Peter G.; Leightner, Amanda C.; Salisbury, Jeffrey L.; Ward, Christopher J.; Torres, Vicente E.; Gattone, Vincent H.; Harris, Peter C.
Fonte: Oxford University Press Publicador: Oxford University Press
Tipo: Artigo de Revista Científica
EN
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Meckel syndrome (MKS) is a lethal disorder characterized by renal cystic dysplasia, encephalocele, polydactyly and biliary dysgenesis. It is highly genetically heterogeneous with nine different genes implicated in this disorder. MKS is thought to be a ciliopathy because of the range of phenotypes and localization of some of the implicated proteins. However, limited data are available about the phenotypes associated with MKS1 and MKS3, and the published ciliary data are conflicting. Analysis of the wpk rat model of MKS3 revealed functional defects of the connecting cilium in the eye that resulted in lack of formation of the outer segment, whereas infertile wpk males developed spermatids with very short flagella that did not extend beyond the cell body. In wpk renal collecting duct cysts, cilia were generally longer than normal, with additional evidence of cells with multiple primary cilia and centrosome over-duplication. Kidney tissue and cells from MKS1 and MKS3 patients showed defects in centrosome and cilia number, including multi-ciliated respiratory-like epithelia, and longer cilia. Stable shRNA knockdown of Mks1 and Mks3 in IMCD3 cells induced multi-ciliated and multi-centrosomal phenotypes. These studies demonstrate that MKS1 and MKS3 are ciliopathies...

The Emerging Genetics of Primary Ciliary Dyskinesia

Zariwala, Maimoona A.; Omran, Heymut; Ferkol, Thomas W.
Fonte: American Thoracic Society Publicador: American Thoracic Society
Tipo: Artigo de Revista Científica
EN
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46.36%
Primary ciliary dyskinesia (PCD) is an autosomal recessive, rare, genetically heterogeneous condition characterized by oto-sino-pulmonary disease together with situs abnormalities (Kartagener syndrome) owing to abnormal ciliary structure and function. Most patients are currently diagnosed with PCD based on the presence of defective ciliary ultrastructure. However, diagnosis often remains challenging due to variability in the clinical phenotype and ciliary ultrastructural changes. Some patients with PCD have normal ciliary ultrastructure, which further confounds the diagnosis. A genetic test for PCD exists but is of limited value because it investigates only a limited number of mutations in only two genes. The genetics of PCD is complicated owing to the complexity of axonemal structure that is highly conserved through evolution, which is comprised of multiple proteins. Identifying a PCD-causing gene is challenging due to locus and allelic heterogeneity. Despite genetic heterogeneity, multiple tools have been used, and there are 11 known PCD-causing genes. All of these genes combined explain approximately 50% of PCD cases; hence, more genes need to be identified. This review briefly describes the current knowledge regarding the genetics of PCD and focuses on the methodologies used to identify novel PCD-causing genes...

Update of Respiratory Tract Disease in Children with Primary Ciliary Dyskinesia

Sagel, Scott D.; Davis, Stephanie D.; Campisi, Paolo; Dell, Sharon D.
Fonte: American Thoracic Society Publicador: American Thoracic Society
Tipo: Artigo de Revista Científica
EN
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46.22%
Primary ciliary dyskinesia (PCD) is a rare genetic disease characterized by abnormal ciliary structure and function leading to impaired mucociliary clearance and chronic progressive sinopulmonary disease. Upper and lower respiratory tract manifestations are cardinal features of PCD. This review summarizes the current state of knowledge of respiratory tract disease in individuals with PCD and highlights the challenges in identifying and quantifying lung disease in very young children with PCD. No specific therapies are available to correct ciliary dysfunction in PCD. Treatment is not evidence based, and recommendations are largely extrapolated from cystic fibrosis and other conditions with impaired mucociliary clearance. There is a pressing need to develop and validate outcome measures, including patient-reported outcomes, that could be used to evaluate potential therapies in PCD. This review concludes with recommendations for clinical endpoints and outcome measures and a prioritized list of treatments to study in PCD clinical trials.

Cilia and Models for Studying Structure and Function

Ostrowski, Lawrence E.; Dutcher, Susan K.; Lo, Cecilia W.
Fonte: American Thoracic Society Publicador: American Thoracic Society
Tipo: Artigo de Revista Científica
EN
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36.14%
Because of the highly conserved nature of the ciliary axoneme, researchers studying the structure and function of cilia have used many different model systems. Each system has advantages and disadvantages, but all provide important information relevant to the understanding and treatment of the ciliopathies. For example, Chlamydomonas is easy to grow and amenable to rapid genetic manipulation and therefore is excellent for motility studies and studies of the structural components of the axoneme. However, this organism cannot be used to study developmental defects or physiological abnormalities that occur in higher organisms (e.g., mucociliary clearance). Human cilia have the advantage of being obtained directly from the tissue of interest but are obtainable only in limited quantities and are difficult to manipulate. Mouse models of ciliopathies are more difficult to study than Chlamydomonas but can be useful to elucidate more aspects of the human diseases. In this review, the overlap between the structure of primary and motile cilia is discussed, and recent advancements in our understanding of cilia structure and function using these three different model systems are presented. Potential therapeutic approaches, based on fundamental knowledge gained from work in these model systems...

DIAGNOSTIC YIELD OF NASAL SCRAPE BIOPSIES IN PRIMARY CILIARY DYSKINESIA: A MULTICENTER EXPERIENCE

Olin, J. Tod; Burns, Kim; Carson, Johnny L.; Metjian, Hilda; Atkinson, Jeffrey J.; Davis, Stephanie D.; Dell, Sharon D.; Ferkol, Thomas W.; Milla, Carlos E.; Olivier, Kenneth N.; Rosenfeld, Margaret; Baker, Brock; Leigh, Margaret W.; Knowles, Michael R.;
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
EN
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Examination of ciliary ultrastructure remains the cornerstone diagnostic test for primary ciliary dyskinesia (PCD), a disease of abnormal ciliary structure and/or function. Obtaining a biopsy with sufficient interpretable cilia and producing quality transmission electron micrographs (TEM) is challenging. Methods for processing tissues for optimal preservation of axonemal structures are not standardized. This study describes our experience using a standard operating procedure (SOP) for collecting nasal scrape biopsies and processing TEMs in a centralized laboratory. We enrolled patients with suspected PCD at research sites of the Genetic Disorders of Mucociliary Clearance Consortium. Biopsies were performed according to a SOP whereby curettes were used to scrape the inferior surface of the inferior turbinate, with samples placed in fixative. Specimens were shipped to a central laboratory where TEMs were prepared and blindly reviewed. 448 specimens were obtained from 107 young children (0–5 years), 189 older children (5–18 years), and 152 adults (> 18 years), and 88% were adequate for formal interpretation. The proportion of adequate specimens was higher in adults than in children. 50% of the adequate TEMs showed normal ciliary ultrastructure...

Primary Ciliary Dyskinesia: An Update on New Diagnostic Modalities and Review of the Literature

Popatia, Rizwana; Haver, Kenan; Casey, Alicia
Fonte: Mary Ann Liebert, Inc. Publicador: Mary Ann Liebert, Inc.
Tipo: Artigo de Revista Científica
Publicado em 01/06/2014 EN
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Primary ciliary dyskinesia (PCD) is a genetic condition affecting approximately 1 in 15,000–20,000 individuals, and the majority of cases exhibit an autosomal recessive inheritance pattern. However, genetic heterogenicity is seen in PCD and reflects the complexity of ciliary structure and biogenesis. There have been many recent advances in the diagnosis and management of PCD in the last few years, including advanced genetic sequencing, nasal nitric oxide assay, and ciliary motility tests. This article focuses on the ultrastructure and pathophysiology of ciliary dyskinesias, along with a review of clinical features, screening, and diagnostic tests. It also reflects upon the diagnostic challenge caused by the diverse clinical presentation, which will be of great value to pediatricians for considering PCD in their differential list, henceforth leading to early recognition and management, along with awareness of the recent advances in the field of genetics and other techniques for diagnosis of this condition.

Recent advances in primary ciliary dyskinesia genetics

Kurkowiak, Małgorzata; Ziętkiewicz, Ewa; Witt, Michał
Fonte: BMJ Publishing Group Publicador: BMJ Publishing Group
Tipo: Artigo de Revista Científica
EN
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36.25%
Primary ciliary dyskinesia (PCD) is a rare genetically heterogeneous disorder caused by the abnormal structure and/or function of motile cilia. The PCD diagnosis is challenging and requires a well-described clinical phenotype combined with the identification of abnormalities in ciliary ultrastructure and/or beating pattern as well as the recognition of genetic cause of the disease. Regarding the pace of identification of PCD-related genes, a rapid acceleration during the last 2–3 years is notable. This is the result of new technologies, such as whole-exome sequencing, that have been recently applied in genetic research. To date, PCD-causative mutations in 29 genes are known and the number of causative genes is bound to rise. Even though the genetic causes of approximately one-third of PCD cases still remain to be found, the current knowledge can already be used to create new, accurate genetic tests for PCD that can accelerate the correct diagnosis and reduce the proportion of unexplained cases. This review aims to present the latest data on the relations between ciliary structure aberrations and their genetic basis.

Diagnosis of primary ciliary dyskinesia*

Olm, Mary Anne Kowal; Caldini, Elia Garcia; Mauad, Thais
Fonte: Sociedade Brasileira de Pneumologia e Tisiologia Publicador: Sociedade Brasileira de Pneumologia e Tisiologia
Tipo: Artigo de Revista Científica
Publicado em //2015 EN
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36.22%
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.

Mechanoreceptors in the cuticle of the honey bee : fine structure and stimulus mechanism

Thurm, Ulrich
Fonte: INRA - Instituto Nacional de Investigação Agronômica da França Publicador: INRA - Instituto Nacional de Investigação Agronômica da França
Tipo: Journal Article-postprint
EN; ENGLISH
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56.16%
The distal nerve process of hair plate sensilla and campaniform sensilla contains a special terminal structure in the form of a bundle of tubules herein designated the "tubular body." Physiological and morphological results indicate that compression at the site of this body probably acts as the stimulus at the cellular level. A ciliary structure separates an outer segment of the distal nerve process from the remaining distal fiber.

Rootletin organizes the ciliary rootlet to achieve neuron sensory function in Drosophila

Chen, Jieyan V; Kao, Ling-Rong; Jana, Swadhin C; Sivan-Loukianova, Elena; Mendonça, Susana; Cabrera, Oscar A; Singh, Priyanka; Cabernard, Clemens; Eberl, Daniel F; Bettencourt-Dias, Monica; Megraw, Timothy L
Fonte: The Rockefeller University Press Publicador: The Rockefeller University Press
Tipo: Artigo de Revista Científica
Publicado em 26/10/2015 ENG
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Cilia are essential for cell signaling and sensory perception. In many cell types, a cytoskeletal structure called the ciliary rootlet links the cilium to the cell body. Previous studies indicated that rootlets support the long-term stability of some cilia. Here we report that Drosophila melanogaster Rootletin (Root), the sole orthologue of the mammalian paralogs Rootletin and C-Nap1, assembles into rootlets of diverse lengths among sensory neuron subtypes. Root mutant neurons lack rootlets and have dramatically impaired sensory function, resulting in behavior defects associated with mechanosensation and chemosensation. Root is required for cohesion of basal bodies, but the cilium structure appears normal in Root mutant neurons. We show, however, that normal rootlet assembly requires centrioles. The N terminus of Root contains a conserved domain and is essential for Root function in vivo. Ectopically expressed Root resides at the base of mother centrioles in spermatocytes and localizes asymmetrically to mother centrosomes in neuroblasts, both requiring Bld10, a basal body protein with varied functions.; National Institutes of Health grant: (GM068758).

The Challenges of Diagnosing Primary Ciliary Dyskinesia

Leigh, Margaret W.; O'Callaghan, Christopher; Knowles, Michael R.
Fonte: American Thoracic Society Publicador: American Thoracic Society
Tipo: Artigo de Revista Científica
EN
Relevância na Pesquisa
46.34%
Primary ciliary dyskinesia (PCD) is a rare genetic disorder of ciliary structure and function. The diagnosis can be challenging, particularly when using nongenetic assays. The “gold standard” diagnostic test is ultrastructural analysis of respiratory cilia obtained by nasal scrape or brush biopsy. A few specialized centers use high-speed videomicroscopy to examine ciliary beat. Certain beat patterns correlate with ultrastructural defects, and, in some cases, subtle alterations in beat pattern can be seen when ultrastructure is normal. Recent studies have shown that nasal nitric oxide (NO) is very low in patients with PCD compared with healthy control subjects; therefore, this assay may be a useful screening or adjunctive test for PCD. Because acute respiratory illnesses may yield alterations in ciliary ultrastructure, ciliary beat, and nasal NO values, these tests should be performed during a stable baseline period. Identification of an array of PCD genes has provided the opportunity for making a definitive genetic diagnosis for PCD in some cases. All of these approaches have a role in diagnosing PCD. For example, PCD has been confirmed by identifying disease-causing mutations in a heavy dynein chain gene in individuals with normal ciliary ultrastructure but subtle defects in ciliary beat and low nasal NO. Priorities to improve nongenetic diagnostic capability include standardization of nasal NO as a screening test and the development of specialized centers using uniform approaches for the analysis of ciliary ultrastructure and ciliary beat pattern. Another chapter in this issue (see Zariwala and colleagues...

Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling

Yee, Laura E.; Garcia-Gonzalo, Francesc R.; Bowie, Rachel V.; Li, Chunmei; Kennedy, Julie K.; Ashrafi, Kaveh; Blacque, Oliver E.; Leroux, Michel R.; Reiter, Jeremy F.
Fonte: Public Library of Science Publicador: Public Library of Science
Tipo: Artigo de Revista Científica
Publicado em 05/11/2015 EN
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36.42%
Mutations in genes encoding cilia proteins cause human ciliopathies, diverse disorders affecting many tissues. Individual genes can be linked to ciliopathies with dramatically different phenotypes, suggesting that genetic modifiers may participate in their pathogenesis. The ciliary transition zone contains two protein complexes affected in the ciliopathies Meckel syndrome (MKS) and nephronophthisis (NPHP). The BBSome is a third protein complex, affected in the ciliopathy Bardet-Biedl syndrome (BBS). We tested whether mutations in MKS, NPHP and BBS complex genes modify the phenotypic consequences of one another in both C. elegans and mice. To this end, we identified TCTN-1, the C. elegans ortholog of vertebrate MKS complex components called Tectonics, as an evolutionarily conserved transition zone protein. Neither disruption of TCTN-1 alone or together with MKS complex components abrogated ciliary structure in C. elegans. In contrast, disruption of TCTN-1 together with either of two NPHP complex components, NPHP-1 or NPHP-4, compromised ciliary structure. Similarly, disruption of an NPHP complex component and the BBS complex component BBS-5 individually did not compromise ciliary structure, but together did. As in nematodes, disrupting two components of the mouse MKS complex did not cause additive phenotypes compared to single mutants. However...

Disquinesia ciliar primaria.: Experiencia en 6 pacientes

Moya D,Guisela; Caussade L,Solange; González B,Sergio; Navarro M,Héctor; Sánchez D,Ignacio
Fonte: Sociedad Médica de Santiago Publicador: Sociedad Médica de Santiago
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/08/1999 ES
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36.28%
Background: Primary ciliary dyskinesia is characterized by a congenital alteration of the ciliary ultrastructure and function. As a consequence, their respiratory tract sweeping action is lost and recurrent respiratory infections ensue. Aim: To analyze a clinical series of patients with primary ciliary dyskinesia, their clinical and laboratory features. Patients and methods: A retrospective review of patients with primary ciliary dyskinesia seen a University Hospital, between 1994 and 1998. Bronchial biopsies were obtained with 3.6 mm diameter Olympus fibrobronchoscope, using a cayman type forceps. Ultrastructural alterations of respiratory tract ciliated cells were recorded. Results: Six patients (four male) aged 9 months to 13 years old were reviewed. Three patients had situs inversus. All had repeated bouts of obstructive bronchitis and pneumonia, five had sinusitis, four atelectasis, three recurrent otitis and three had bronchiectasis. Cystic fibrosis and immunological alterations were ruled out in five children. Ultrastructural analysis revealed absence of dynein arms in three cases, absence of the internal dynein arm in one, additional peripheral microtubules and absence of dynein arms in one case. Conclusions: Primary ciliary dyskinesia must be considered in the differential diagnosis of recurrent respiratory infections. Ultrastructural analysis of ciliary structure can be done in bronchial biopsies obtained through bronchoscopy.