ciliary motility disorders

..However, these investigations are not always conclusive. Functional and ultrastructural ciliary evaluation after ciliogenesis in tissue culture is essential and crucial...

..Several molecular mechanisms involved in cilia-related disorders have been identified that affect the structure and function of distinct cilia types...

..Our findings show that mutations in RPGRIP1L can cause the multiorgan phenotypic abnormalities found in CORS or MKS, which therefore represent a continuum of the same underlying disorder...

..In a total of 84 patients (10.3%) the final diagnosis was primary ciliary dyskinesia. Eighteen percent of the samples were considered normal, in 24% secondary ciliary dyskinesia was diagnosed...

..DNAH5 localization is not altered by SCD, indicating a high potential for immunofluorescence analysis as a novel diagnostic tool in PCD...

..The diagnosis of primary ciliary dyskinesia (PCD) can be challenging, and it may be particularly difficult to distinguish primary ciliary disease from the secondary changes after infections...

..Still, by identifying CED as a ciliary disorder, our study suggests that the causative mutations in the unresolved cases most likely affect primary cilia function too...

..We review the common clinical phenotypes associated with ciliopathies and interrogate Online Mendelian Inheritance in Man (OMIM) to compile a comprehensive list of putative disorders in which ciliary dysfunction may play a role...

..Ciliary malfunctions due to genetic errors tend to be systemic and life-long, whereas acquired diseases are local and may be temporary only...

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..Finally, this study demonstrates a link between ciliary function and situs determination, since compound mutation heterozygosity in DNAI1 results in PCD with situs solitus or situs inversus (KS)...

..Recent mutational analysis demonstrated that 38% of PCD patients carry mutations of the dynein genes DNAI1 and DNAH5. Increased understanding of the pathogenesis will aid in better diagnosis and treatment of PCD...

..Collectively, Pol lambda(-/-) mice may provide a useful model for clarifying the pathogenesis of immotile cilia syndrome...

..The relative contribution of DNAI2 is currently being assessed. In all the other patients with ODA or other ultrastructural defects, the causative genes remain to be identified...

..In this review, the disease pathomechanism is discussed along with the genes that are or may be involved in the pathogenesis of primary ciliary dyskinesia and the Kartagener syndrome...

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..On the basis of the Chlamydomonas model for PCD, this gene represents an excellent candidate for PCD...

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..These data reveal the critical role of DNAI1 in the development of human axonemal structures and open up new means for identification of additional genes involved in related developmental defects...

..3-qter at alpha (proportion of linked families) = 0.7. A 15 cM critical region is defined by recombinations at D19S572 and D19S218. These data provide significant evidence for a PCD locus on chromosome 19q and confirm locus heterogeneity...

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..This is consistent with the hypothesis that situs inversus occurring in patients with primary ciliary dyskinesia is a random but "complete" event in the fetal development of patients with PCD...

..The next important steps in PKD research will be to define the physiological roles of primary renal cilia and how defects in ciliary structure and function lead to the development of a cystic phenotype in different forms of PKD...

..Wdr16 can be considered a differentiation marker of kinocilia-bearing cells. In the brain, it appears to be functionally related to water homeostasis or osmoregulation...

..This work identifies RPGRIP1L as a gene responsible for JBTS and establishes a central role for cilia and basal bodies in the pathophysiology of this disorder...

..These defenses may be disrupted by viral and bacterial infections, by inhaled toxins, and by inherited diseases such as primary ciliary dyskinesia and cystic fibrosis...

..According to the findings derived from this study, mechanical nasal obstruction seems to cause major alterations on the nasal ciliary arrangement, thus determining a functional impairment on the whole nasal function...

..Usefulness and reliability of nasal brush samples in a monolayer cell culture was studied for evaluation of ciliary movement...

..85; P<.001). In contrast, patients who present with multiple manifestations are highly likely to have PCD (chi(2) test, 22.2; P<.001). This information may assist the clinician in the diagnosis of PCD...

..If such effects also occur in vivo they may play a role, at least partly, in the pathogenesis of airway disorders that may manifest in exposed workers...

..While these diseases highlight the pivotal roles of cilia in physiology and development, the mechanistic link between cilia, physiology, and disease remains unclear...

..This may also allow the development of new methods for diagnosis, prevention and treatment of PCD...

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..We evaluated the local tolerance of a newly shaped device, the Guastella/Mantovani splint (G/M-SVS), with respect to the physiological mechanism of mucociliary clearance...

..To the authors' knowledge, this is the first case of PCD described in the Staffordshire bull terrier and the first report of PCD in South Africa...

..05). CONCLUSION: Rhinitis sicca is a separate nasal disease, which is different from atrophic rhinitis. It is important to find an effective treatment for the disease...

..Here, we summarize an emerging view that in order to understand some complex developmental pathways and disease etiologies, one must consider the molecular functions performed by cilia...

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..Ciliary microtubular abnormalities of any kind were no more frequent in cases of primary ciliary dyskinesia than in other cases. The same was true for transposition and radial spoke defects...

..The inborn disease named immotile-cilia syndrome is characterized by the cilia being defective. It is a highly heterogeneous disease in that more than a dozen subgroups characterized by different ciliary defects have been recognized...

..Early start of the life-long treatment depends on early diagnosis which should be based on well-defined criteria...

..9 Hz). In contrast to, neither a circadian variation of the ciliary beat frequency nor a stimulation by terbutaline could be observed in a group of fifteen patients with chronic bronchitis or bronchiectasis at 600, 1200, 1800 and 2400...

..No mutation was found in the DNAI2 coding sequence of the twelve patients investigated. However, ten intragenic polymorphic sites and an EcoRI RFLP have been identified, allowing the exclusion of DNAI2 in three consanguineous families...

..In the absence of pathogenic mutations, the DNAH9 gene has been excluded as being responsible for autosomal recessive PCD in these families...

..These data provide evidence that ciliary microtubular discontinuities represent acquired ciliary defects reflective of chronic airway disease injury and are not components of a primary structural abnormality in PCD...

..Methods of rectifying this defect promise to restore MCC to normal and interfere in the vicious circle of inflammatory lung damage...

..Dyskinetic or dysfunctional cilia result clinically in the immotile-cilia syndrome. Differentiation between congenital and acquired anomalies is important. An early diagnosis as part of the therapeutic approach should be considered...

..In this review, attempts are made to outline selected, yet key topics related to ciliary function in health and disease...

..In cilia from PCD cells, DNAH7 was undetectable, whereas intracellular DNAH7 was clearly present. These studies identify DNAH7 as an inner arm component of human cilia that is synthesized but not assembled in a case of PCD...

..Detection of CC abnormalities is a marker of severity and required intensive therapy and close follow-up...

..Ciliary dyskinesia (CD) is a low incidence genetic illness, that presents with a wide clinical spectrum. Also, there are transitory conditions that present with ciliary anomalies, secondary to infectious diseases of the airways...

..Special attention should be given to ultrastructural changes of nasal or bronchial mucosa if a young patient suffers from recurrent severe respiratory infections...

..Atypical cases of primary ciliary dyskinesia (PCD) may present with minimal transmission electron microscopy (TEM) defects. The diagnostic role of nasal nitric oxide (nNO) levels was evaluated in those patients...

..This view has had unanticipated consequences for our understanding of developmental processes and human disease...

..Particularly low concentrations have been described in children with primary ciliary dyskinesia, so nNO measurement has been proposed as a reliable screening test for this chronic lung disease...

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..Studies of disorders mucus and ciliary function have improved the understanding of this forgotten organ. The clinical implications of this understanding have yet to be explored...

..This prolonged airway clearance allows longer residence times of bacteria and viruses in the airways and may be one reason for increased frequency of infections in PCD patients...

..There are no controlled studies on rhDNase in primary ciliary dyskinesia or atelectasis...

..We conclude that structural and functional ciliary abnormalities are common in recipients of HSCT, and predict post-HSCT deterioration. However, there is no evidence to show that CBF monitoring may be of prospective benefit...

..This review focuses on the kidney and liver disease found in the different ciliopathies...

..The aim was to examine the handling of the recently developed breath actuated dry powder inhaler Auto-Jethaler (PulmoTec GmbH/Höchstädt, launch by Ratiopharm and CT Berlin)...

..The clinical complexity of the ciliopathies can therefore only be understood in light of the basic cell biology of the cilia themselves, which I will discuss from the viewpoint of cell biological studies in model organisms...

..In approximately 50% of the spermatozoa, the midpiece had a decreased number of mitochondria and extra non-aligned mitochondria. Other findings included extra peripheral microtubules in the axoneme...

..The role of ICSI with incubated and activated ejaculatory sperm by pentoxifylline in the patient of PCD or as commonly named immotile cilia syndrome...

..Primary ciliary dyskinesia has more variety in radiological and clinical findings than has been recognized...

..As the phenotypes of Cby(-/-) mice bear striking similarities to primary ciliary dyskinesia, Cby(-/-) mice may prove to be a useful model for this condition...

..Collectively, these data demonstrate that the jck mice should be useful for testing potential therapies and for studying the molecular mechanisms that link ciliary structure/function and cystogenesis...

..In conclusion, RFX proteins not only regulate genes involved in ciliary assembly, but also genes that are involved in ciliary motility and that are associated with ciliopathies such as primary ciliary dyskinesia in humans...

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..We have developed a simple, reliable method for the simultaneous determination of the ciliary wave disorder (CWD) and ciliary beat frequency (CBF) of actively beating cilia...

..Early diagnosis of PCD with appropriate clinical follow-up and treatment is important to prevent irreversible lung tissue damage, namely bronchiectasis...

..CONCLUSION: The combination of extensive clinical examination with functional and ultrastructural analysis of the cilia results in a high degree of accuracy in diagnosing PCD...

..We report a case of one boy with ciliary aplasia characterized by diagnostic peculiarity, consisting in the initial non-diagnosis, a period of relative well-being and a relapse with good recovery after adequate therapy...

..This article summarises the status of this specialty, and the training syllabus, and highlights key research questions...

..The unusual presentation of ciliary dyskinesia, hydrocephalus, and mental retardation may be due to a new genetic mutation...

..To distinct from ultrastructural images between primary and secondary ciliary dyskinesia is often uneasy because some of the findings in secondary ciliary dyskinesia obviously mimic those dedicated to primary ciliary dyskinesia...

..In conclusion, inherited abnormalities in primary ciliary dyskinesia are expressed after ciliogenesis, while secondary abnormalities are virtually absent, thereby facilitating the ultrastructural diagnosis...

..To describe structural abnormalities of the respiratory cilia in newborn infants whose mothers consumed heroin during pregnancy...

..CONCLUSION: We attribute the nature of the mucociliary defect in Down syndrome to recurrent respiratory tract infections causing changes in mucus properties as in rheological parameters and not to a primitive defect of cilia...

..Further studies are indicated to evaluate this important phenomenon, which could be an important cause of the susceptibility for BMT recipients to respiratory infections...

..Although the syndrome cannot be cured, as in other chronic pneumopathies, early diagnosis and appropriate treatment can considerably reduce morbidity...

..The cause of the situs inversus remains elusive to this day. It is appropriate to call the condition Kartagener-Afzelius syndrome...

..This location suggests that a mutation at the TUBB locus could be the cause for certain forms of HLA-linked microtubule dysfunction, including immotile cilia syndrome...

..Primary ciliary dyskinesia (PCD) is a genetic disease characterized by abnormalities in ciliary structure/function...

..The orientation of these cilia was random. Two of the patients had situs inversus. In biopsies considered not to represent the immotile cilia syndrome, about four inner and seven outer dynein arms were found per cilium...

..The current authors suggest that the nasal nitric oxide test may be a useful, noninvasive method for screening young children for primary ciliary dyskinesia in clinical practice...

..Sitting at the interface between simple and complex genetic conditions, these diseases provide clues to the future direction of human genetics...

..Here, we review the mechanistic relationship between human disease phenotypes and the function of the centrosome, and describe some of the newly-appreciated functions of this organelle in animal cells...

..To assess if hearing loss is a feature of Joubert syndrome (JBS), one of the ciliopathies and therefore possibly associated with hearing loss...

..Until such time as these inadequacies can be remedied, a very conservative approach to the interpretation of ultrastructural studies is advocated...

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..abstract_text> ..

..Currently, the molecular mechanisms of gamete fusion are not understood in any organism. Understanding gamete fusion in Chlamydomonas should inform future studies on human reproduction. ..

..abstract_text> ..

..Studying flagellar adhesion and flagellar shortening in Chlamydomonas will continue to uncover novel and fundamental properties of these remarkable organelles. ..

..Studying flagellar adhesion and flagellar shortening in Chlamydomonas will continue to uncover novel and fundamental properties of these remarkable organelles. ..

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..We propose experiments to learn more about the early steps in flagellar adhesion-induced signaling and the role of intraflagellar transport in the pathway. ..

..DESCRIPTION: This is a new application to study the molecular mechanism of adhesion and fusion between Chlamydomonas gametes. Preliminary findings for the application were accrued through the auspices of an NSF grant. ..

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..The mechanism of this aggregation-induced turnover of adhesion molecules is being investigated by use of 38S pulse-chase experiments, and protease treatment both of aggregating cells and of flagella isolated from aggregating cells. ..

..4) Initiation of molecular genetic studies on agglutinin and signal transduction...