1,720,969 research outputs found
Unusual ultrastructural features in microvillous inclusion disease: A report of two cases.
No full textUnusual ultrastructural features in microvillous inclusion disease: A report of two cases.
No full textIntermitochondrial cement (nuage) in a spermatocytic seminoma: comparison with classical seminoma and normal testis.
No full textCT-guided radiolabelled aerosol studies for assessing pulmonary impairment in children with bronchiectasis
No full textObjective. To determine whether CT-guided mucociliary clearance studies allow differentiation between bronchiectasis associated with primary ciliary dyskinesia (PCD) and those unrelated to congenital or genetically transmitted defects. Materials and methods. Fifteen children aged 4-18 years with a CT diagnosis of bronchiectasis were included in the study. Six had PCD, while in nine cases no congenital disorder was demonstrated. Results. CT showed bronchiectasis in 26 (29 %) of 90 lung regions. Radiolabelled aerosol studies were conducted globally for each lung and on the regions affected by bronchiectasis. Global half-time of activity (t(1/2)) values of patients with PCD were significantly higher (P < 0.001) than those with bronchiectasis unrelated to congenital disorders. Among the 26 lung regions in which CT demonstrated bronchiectasis, regional clearance was abnormal in 24 cases. Patients with PCD showed no statistically significant difference between regional and global t(1/2) values. Patients with bronchiectasis unrelated to congenital disorders showed significantly higher regional t(1/2) values in the affected regions with respect to the corresponding global pulmonary t(1/2) (P < 0.06). Conclusions. The combination of morphological CT information with functional data concerning the clearance of radiolabelled aerosol adds to our understanding of pulmonary impairment in children with bronchiectasis. In particular, regional studies allow the recognition of different mucociliary clearance patterns in bronchiectasis associated with PCD and those unrelated to congenital or genetically transmitted defects
Primary ciliary dyskinesia: diagnosis in children with inconclusive ultrastructural evaluation
No full textUp to date on primary ciliary dyskinesia in children
No full textPrimary ciliary dyskinesia (PCD) is a congenital, clinically and ultrastructurally heterogeneous disease due to
abnormal structure and/or function of cilia, with impaired mucociliary transport leading to several respiratory
disorders. PCD can be diagnosed by the combination of thorough clinical examination with functional and ultrastructural
analysis of the cilia. This paper shows progresses in PCD diagnosis obtained by ciliogenesis in culture
evaluation of ciliated respiratory cells and by genetic analysis of mutations in candidate genes. Moreover, since
to date no specific treatments are available to correct the ciliary dysfunction, the paper shows the proper
therapeutical approach by the use of respiratory physiotherapy and regular exercise to favour airways clearance,
by antibiotics administration to control acute airway infections. Macrolides administration as antinflammatory
option is suggeste
New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure
No full textNo abstract availabl
Torquetenovirus infection and ciliary dysmotility in children with recurrent pneumonia
No full textBackground: The aim of the study was to assess Torquetenovirus (TTV) loads within respiratory ciliated cells and to verify the existence of a correlation between TTV loads and functional or structural ciliary abnormalities, in a group of children with recurrent or persistent pneumonia. Methods: Nasal brushing samples of 55 children (28 male) were evaluated for ciliary motion and ultrastructural assessment, as well as for detection and quantification of TTV. Moreover, presence and load of TTV within ciliated cells, obtained from 5 patients by laser capture microdissection, were determined. Results: The nasal samples of 47 (85%) children with persistent or recurrent pneumonia resulted positive for TTV (loads = 2.1-7.3 log(10) copies/mu g total DNA). TTV were demonstrated also within microdissected ciliated cells. No significant difference between primary (11 subjects) and secondary ciliary dyskinesia (44 subjects) for TTV prevalence and mean loads were found. A significant correlation was observed between nasal TTV loads and ciliary beat frequency score (r = 0.305; P < 0.05), but not between TTV loads and presence of abnormal motion patterns, in patients with secondary ciliary abnormalities. As expected no correlations were found between nasal TTV loads and ciliary motion analysis in primary ciliary dyskinesia. Conclusions: The presence of TTV in nasal samples demonstrates TTV ability to infect respiratory ciliated cells and suggests that these cells are potentially able to support virus replication. Moreover, TTV may behave in respiratory cells in a similar way to other viruses, that is, they disrupt the mucociliary escalator
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