New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure.
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چکیده
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 cessation plan should be implemented. Patients' relatives, who most often continue smoking after LTx, must be recommended to stop smoking. At present, however, most LTx centres neither monitor smoking nor perform post-LTx smoking cessation counselling. The risk of smoking for worsening post-LTx outcome (i.e. by bronchiolitis obliterans syndrome, cancer or cardiovascular mortality) is currently unclear, yet long-term survival in heart transplantation is impaired by smoking due to chronic allograft rejection (graft coronary artery disease) [6]. Therefore, this ought to be investigated after LTx through a prospective study with repeated screening for smoking. The gold standard for screening, however, is currently unknown. Although a questionnaire is subjective; it has a good sensitivity/specificity to detect smoking and a good correlation with the COT test [10], a more objective assessment of the patient's nicotine-exposure [4, 11]. Despite being sensitive, COT conversely has a lower specificity as it may be falsely positive because of NRT or intensive secondhand smoking. False-negative values after pausing smoking are also possible as the half-life of COT is about 16 h [11]. False-negative tests could be prevented by repeated or unexpected COT tests. Although a lot less sensitive, eCO may be adequate to confirm the questionnaire or COT findings, but probably not to discriminate current from secondhand or nonsmokers as eCO may also be increased due to elevated airway neutrophilia after LTx [4]. In conclusion, the prevalence of post-LTx smoking is higher than generally assumed and active screening, both pre-and post-LTx, is crucial to detect smoking resumption. A standard-ised questionnaire and (preferably repeated) testing of COT is probably the best screening method. To confirm these findings we recommend eCO monitoring. Implementing a standardised smoking cessation plan after LTx must be considered. Finally, the importance of smoking resumption for the outcome after LTx should be investigated in a well-designed prospective study. REFERENCES 1 Verleden GM, Dupont LJ, Van Raemdonck DE, et al. Lung transplantation: a 15-year single-center experience. monoxide as a noninvasive marker of airway neutrophilia after lung transplantation. New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure To the Editors: In primary ciliary dyskinesia …
منابع مشابه
Mutations 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...
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1 Bush A, Chodhari R, Collins N, et al. Primary ciliary dyskinesia: current state of the art. Arch Dis Child 2007; 92: 1136–1140. 2 Lie H, Ferkol T. Primary ciliary dyskinesia: recent advances in pathogenesis, diagnosis and treatment. Drugs 2007; 67: 1883–1892. 3 Pifferi M, Cangiotti AM, Ragazzo V, et al. Primary ciliary dyskinesia: diagnosis in children with inconclusive ultrastructural evalua...
متن کاملMutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia.
Primary ciliary dyskinesia (PCD; MIM 242650) is an autosomal recessive disorder of ciliary dysfunction with extensive genetic heterogeneity. PCD is characterized by bronchiectasis and upper respiratory tract infections, and half of the patients with PCD have situs inversus (Kartagener syndrome). We characterized the transcript and the genomic organization of the axonemal heavy chain dynein type...
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...
متن کاملPrimary ciliary dyskinesia syndrome associated with abnormal ciliary orientation in infants.
Primary ciliary dyskinesia (PCD) syndrome associated with abnormal ciliary orientation but with normal ciliary ultrastructure has been described in adults, but there are no normal ranges for orientation in infants, despite the fact that half of all patients with PCD present in the new-born period. Nasal brush biopsies were obtained from eight infants (three males), mean age 13.1 months, range 7...
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عنوان ژورنال:
- The European respiratory journal
دوره 35 6 شماره
صفحات -
تاریخ انتشار 2010