Ciliary dyskinesia with normal ultrastructure.
نویسندگان
چکیده
منابع مشابه
Ciliary dyskinesia with normal ultrastructure.
There is increasing awareness of the association between primary ciliary abnormalities and bronchiectasis. The most frequently recognised is that between dynein deficient cilia and Kartageneres syndrome.' Afzelius, however, predicted that without embryonic ciliary movement the rotation of the archenteron would be random and that in half of the cases of the "immotile cilia syndrome" there would ...
متن کاملMutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure.
RATIONALE Primary ciliary dyskinesia (PCD) is an autosomal recessive, genetically heterogeneous disorder characterised by oto-sino-pulmonary disease and situs abnormalities (Kartagener syndrome) due to abnormal structure and/or function of cilia. Most patients currently recognised to have PCD have ultrastructural defects of cilia; however, some patients have clinical manifestations of PCD and l...
متن کاملNew DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure.
older age, earlier age at initiation, previous quit attempts) or psychological factors (e.g. stress/anxiety, degree of nicotine dependence) [8, 9]. Therefore, besides evaluating a patient's likelihood of smoking resumption, active screening for smoking, both when listed for LTx and during post-LTx follow-up, should be performed. For the patients resuming smoking, a standardised smoking cessatio...
متن کاملCCDC65 Mutation Causes Primary Ciliary Dyskinesia with Normal Ultrastructure and Hyperkinetic Cilia
BACKGROUND Primary ciliary dyskinesia (PCD) is a genetic disorder characterized by impaired ciliary function, leading to chronic sinopulmonary disease. The genetic causes of PCD are still evolving, while the diagnosis is often dependent on finding a ciliary ultrastructural abnormality and immotile cilia. Here we report a novel gene associated with PCD but without ciliary ultrastructural abnorma...
متن کاملPrimary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure
BACKGROUND Primary ciliary dyskinesia (PCD) is a rare disorder with variable disease progression. To date, mutations in more than 20 different genes have been found. At present, PCD subtypes are described according to the ultrastructural defect on transmission electron microscopy (TEM) of the motile cilia. PCD with normal ultrastructure (NU) is rarely reported because it requires additional tes...
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ژورنال
عنوان ژورنال: Thorax
سال: 1983
ISSN: 0040-6376
DOI: 10.1136/thx.38.11.875