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- Carlén, Birgitta, et al.
(författare)
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Diagnostic value of electron microscopy in a case of juvenile neuronal ceroid lipofuscinosis
- 2001
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Ingår i: Ultrastructural Pathology. - : Informa UK Limited. - 1521-0758 .- 0191-3123. ; 25:4, s. 285-288
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Tidskriftsartikel (refereegranskat)abstract
- Neuronal ceroid lipofuscinoses (NCLs) represent a large group of inherited neurodegenerative disorders characterized by an abnormal accumulation of lipopigment in neuronal and extraneuronal cells. The authors present a case of juvenile neuronal ceroid lipofuscinosis in a 7-year-old boy. Ultrastructural examination of a skin biopsy disclosed deposits of curvilinear profiles and fingerprint-like structures in epithelial cells of sweat glands, endothelial cells, peripheral nerve endings, and fibroblasts, These findings allowed specific confirmation of the assumed diagnosis of juvenile neuronal ceroid lipofuscinosis. Due to the genotypic and phenotypic variability within the group of NCLs, the clinical investigation may be long and complicated. With the NCL disorders in mind, an accurate diagnosis based on ultrastructural examination of a skin biopsy may shorten this investigation, thus benefitting the patient.
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- Carlén, Birgitta, et al.
(författare)
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Primary ciliary dyskinesia: a review.
- 2005
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Ingår i: Ultrastructural Pathology. - : Informa UK Limited. - 1521-0758 .- 0191-3123. ; 29:3, s. 217-220
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Tidskriftsartikel (refereegranskat)abstract
- The entity sinusitis, bronchiectasis, and situs inversus is since long named Kartagener syndrome. Nowadays the designation used is primary ciliary dyskinesia (PCD), which implies cilia with decreased or total absence of motility, which may result in sinusitis, chronic bronchitis, bronchiectasis, and male infertility. A large number of deficiencies detectable on the ultrastructural level give rise to PCD. There may also be aberrations not detected up to the present. The normal left-right asymmetry of the body is thought to be due to the beating of the cilia in the embryonic (Hensen's) node. Total immotility of the cilia should therefore result in random asymmetry of the body that is situs inversus in 50% of the cases. It has also been claimed that 50% of cases with PCD have situs inversus. However, several deficiencies apparently do not cause total immotility, and all ultrastructural variants are not associated with situs inversus in 50% of the cases. Several of the deficiencies are difficult to detect. Optimal fixation and handling are therefore obligatory. The genetic changes behind the variants are now being studied in several laboratories. Patients with PCD have very low levels of nasal nitric oxide, which is of increasing diagnostic importance. Other established diagnostic methods are the saccharine test and determination of ciliary beat frequency.
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- Cramnert, Catharina, et al.
(författare)
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Number of Nexin Links Detectable at Standard Electron Microscopy of Normal Human Nasal Cilia and at Nexin Link Deficiency.
- 2014
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Ingår i: Ultrastructural Pathology. - : Informa UK Limited. - 1521-0758 .- 0191-3123. ; 38:6, s. 377-381
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Tidskriftsartikel (refereegranskat)abstract
- Abstract Background: Eleven years ago we had described three patients with missing nexin links as a possible cause of primary ciliary dyskinesia (PCD). The assumption was substantiated last year by finding a mutation in these patients. Materials and Methods: We counted the nexin links, inner (IDA) and outer (ODA) dynein arms and microtubuli in each of, if possible, 50 cilia in 41 patients with normal cilia, 4 patients with deficiency of nexin links only and 4 with deficiency of nexin links and IDA. Results: In the control group the median number of nexin links was 4.5 per cilium, range 3.4-5.3. In the second group the mean numbers of nexin links per cilium were 1.1-1.4, in the third group 0.8-1.2, per patient. The median number of IDA was in the control group 4.2, range 3.3-5.2. In groups 2 and 3 the numbers were 3.0-3.5 and 0.2-1.0, respectively. Numbers of ODA were normal in all groups. Conclusions: It is possible to reliable count the number of nexin links in nasal human cilia and to distinguish cases with missing nexin links from normal controls.
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