European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia

The diagnosis of primary ciliary dyskinesia is often confirmed with standard, albeit complex and expensive, tests. In many cases, however, the diagnosis remains difficult despite the array of sophisticated diagnostic tests. There is no "gold standard" reference test. Hence, a Task Force supported by the European Respiratory Society has developed this guideline to provide evidence-based recommendations on diagnostic testing, especially in light of new developments in such tests, and the need for robust diagnoses of patients who might enter randomised controlled trials of treatments. The guideline is based on pre-defined questions relevant for clinical care, a systematic review of the literature, and assessment of the evidence using the GRADE (Grading of Recommendations, Assessment, Development and Evaluation) approach. It focuses on clinical presentation, nasal nitric oxide, analysis of ciliary beat frequency and pattern by high-speed video-microscopy analysis, transmission electron microscopy, genotyping and immunofluorescence. It then used a modified Delphi survey to develop an algorithm for the use of diagnostic tests to definitively confirm and exclude the diagnosis of primary ciliary dyskinesia; and to provide advice when the diagnosis was not conclusive. Finally, this guideline proposes a set of quality criteria for future research on the validity of diagnostic methods for primary ciliary dyskinesia

The role of TLR4 and CD14 polymorphisms in the pathogenesis of respiratory syncytial virus bronchiolitis in greek infants.

Clinical manifestations of respiratory syncytial virus (RSV) infection vary from minimal disease to severe acute bronchiolitis. The structural complex of TLR4/CD14 participates in the virus recognition as a component of natural immune response. Genetic variations of TLR4/CD14 may explain great variations in disease severity. The aim of this study was to investigate the possible role of polymorphisms of TLR4, Asp299Gly and Thr399Ile and CD14, C-159T and C-550T in the development of RSV bronchiolitis. Our study included two groups of Greek infants and young children (A and B). Group A consisted of 50 infants ≤2 years of age hospitalised with bronchiolitis and group B of 99 previously healthy children aged 4-14 years (control group) with a free past medical history. RSV was identified by PCR of genetic material that was extracted from nasopharyngeal samples collected from all patients. Blood samples were used to extract DNA and by using the PCR-RFLP method we performed TLR4 and CD14 genotyping. We found no association between TLR4 polymorphisms (Asp299Gly and Thr399Ile) and the development of acute bronchiolitis. For CD14 polymorphisms, a positive association was found between the C-159T and the development of bronchiolitis (p=0.05) but not for the other loci. There were no differences detected in the frequencies of the four polymorphisms studied among infants with RSV and non-RSV bronchiolitis. It is concluded that protein CD14 may have a functional role in the viral conjunction to the structural complex TLR4/CD14. The association between the polymorphism C-159T and the manifestation of disease found in our study points out that the severity in the development of acute bronchiolitis is not specified exclusively by the pathogen, but the immune response of the host also plays a significant role. More extensive multicentric studies need to take place, in order to lead to safer conclusions.

Reactive thrombocytosis in children with viral respiratory tract infections.

AIM: Secondary thrombocytosis occurs commonly in children and is associated with a variety of lower respiratory tract infections, bacterial most often than viral. Aim of the study was to have an insight into the incidence and the clinical significance of thrombocytosis in children with lower respiratory tract infection caused by viral pathogens. METHODS: Clinical data of 92 children, aged 10 days to 8 years, hospitalized with viral lower respiratory tract infection were studied retrospectively for presence of thrombocytosis (platelet count >500×109/l). RESULTS: Thrombocytosis was detected in 59.78% of patients. When children with and without thrombocytosis were compared a significant difference was found for age (P=0.002). We have found no differences among the two groups in sex, SaO2, clinical severity score and CRP levels at admission. Patients with RSV infection presented with significantly higher platelet counts (P=0.003). Extreme thrombocytosis (platelet count >1000×109/L) was noticed in eight patients (8.7%), seven of them were infants with RSV bronchiolitis. All children recovered uneventfully without requiring prophylaxis with anticoagulants or platelet aggregation inhibitors. CONCLUSION: Reactive thrombocytosis is a common finding in the acute care population of children hospitalized with viral lower respiratory tract infection. It represents a reactive phenomenon and does not indicate infection of bacterial cause or severe clinical course. Routine prophylactic antiplatelet treatment or further investigations are not necessary.

Measles and mumps immunity in Northern Greece, 2004-2007.

A cross-sectional study was conducted in order to determine the prevalence of mumps and measles antibodies in a representative sample of the general population in Northern Greece between January 2004 and May 2007. Overall, 900 healthy individuals participated in the study. The great majority were found to be protected against measles. The total protection rate against mumps was significantly less (87% versus 72%, respectively; p<0.01). Compared to all other age groups, statistically significantly lower protection rates were found in children younger than 1.5 years (p<0.01). The lowest rates of all adult groups were found in the age group of 21 to 30 years (86% and 68% for measles and mumps, accordingly). In conclusion, protection rates against both measles and mumps seem to be lower than expected in certain age groups, such as infants and young adults.