Primary ciliary dyskinesia presentation in 60 children according to ciliary ultrastructure.

Primary ciliary dyskinesia (PCD) is an inherited disease related to ciliary dysfunction, with heterogeneity in clinical presentation and in ciliary ultrastructural defect. Our study intended to determine if there are phenotypic differences in patients with PCD based on ciliary ultrastructural abnormality. In this retrospective study carried out among 60 children with a definitive diagnosis of PCD, we analyzed clinical, radiological, and functional features at diagnosis and at last recorded visit, according to cilia defect (absence of dynein arms: DAD group, n = 36; abnormalities of the central complex: CCA group, n = 24). Onset of respiratory symptoms occurred later in the CCA than in the DAD group (9.5 versus 0.5 months, p = 0.03). Situs inversus was only observed in the DAD group, while respiratory disease in siblings were more frequent in the CCA group (p = 0.003). At diagnosis, clinical presentation was more severe in the CCA group: frequency of respiratory tract infections (p = 0.008), rhinosinusitis (p = 0.02), otitis complications (p = 0.0001), bilateral bronchiectasis (p = 0.04), and number of hypoxemic patients (p = 0.03). Pulmonary function remained stable in both groups, but outcome was better in the CCA than in the DAD group: less antibiotic therapy and hypoxemic patients (p = 0.004). In conclusion, our results underlined the relationship between the severity of clinical presentation and the ultrastructural ciliary defect.

Severity of acute gastroenteritis in infants infected by G1 or G9 rotaviruses.

BACKGROUND: Group A rotaviruses are the main viral causative agent of acute diarrhea, and cause considerable morbidity in children. G9 rotaviruses have recently emerged all over the world and are thought to give more severe symptoms because of a lack of previous exposure and the absence of maternal antibodies in patients. OBJECTIVES: To determine the clinical severity of G9 infections compared to G1 infections in hospitalized children. STUDY DESIGN: The prospective study was conducted from 2004 to 2007 in French children under 5 years old hospitalized for acute gastroenteritis. The rotaviruses were detected in stools by ELISA tests and genotyped by RT-PCR on the basis of their outer capsid proteins. The duration of hospitalization, the Vesikari clinical score, and the requirement for intravenous rehydration were compared. RESULTS: The stools from 370 children were analyzed and 162 stools infected by G1 (n=76) or G9 (n=86) rotaviruses were analyzed. Age and gender distribution were similar in the two groups as was the mean duration of hospitalization (2.7 days). The Vesikari scores were 12.96 and 12.83 in G1P[8] and G9P[8] groups (p=0.417), respectively, in which 55.3 and 53.5% of the children, respectively, were rehydrated with an intravenous line. CONCLUSIONS: No difference in severity was found between G1 and G9 rotavirus infections. Rigorous surveillance to monitor changes in the ecology of rotavirus infections is necessary, as emerging strains are more likely to cause severe gastroenteritis and not respond to current rotavirus vaccines.

Human bocavirus: a cause of severe asthma exacerbation in children.

Real-time polymerase chain reaction for human bocavirus (HBoV) was performed in nasopharyngeal aspirate specimens from 166 children over 2 years of age hospitalized for severe asthma exacerbation. Whereas HBoV was detected in 21 of these children (13%), it was found in only 1 of 50 ambulatory children with stable asthma (2%), suggesting a major role of HBoV in acute exacerbations in asthmatic children.

Genetic variations in inflammatory mediators influence lung disease progression in cystic fibrosis.

The clinical course of cystic fibrosis (CF) varies considerably among patients carrying the same CF-causing gene mutation. Additional genetic modifiers may contribute to this variability. As airway inflammation is a key component of CF pathophysiology, we investigated whether major cytokine variants represent such modifiers in young CF patients. We tested 13 polymorphisms in 8 genes that play a key role in the inflammatory response: tumor necrosis factor, lymphotoxin alpha, interleukin (IL) 1B, IL1 receptor antagonist, IL6, IL8, IL10 and transforming growth factor beta 1 (TGFB1), for an association with lung disease progression and nutritional status in 329 CF patients. Variants in the TGFB1 gene at position +869T/C demonstrated a significant association with lung function decline. A less pronounced rate of decline in forced expiratory volume in 1 sec (FEV(1)) and forced vital capacity (FVC) were observed in patients heterozygous for TGFB1 +869 (+869CT), when compared to patients carrying either TGFB1 +869TT or +869CC genotypes. These findings support the concept that TGFB1 gene variants appear to be important genetic modifiers of lung disease progression in CF.

[PCR testing for Bordetella pertussis in household contacts as a diagnostic tool for atypical whooping cough in unvaccinated young infants]. / La recherche de Bordetella pertussis par PCR chez les parents permet de diagnostiquer la coqueluche atypique chez les jeunes nourrissons non vaccinés.

INTRODUCTION: False-negative findings of polymerase chain reaction (PCR) for genuine pertussis as well as the numerous atypical forms of whooping cough make it difficult to diagnose this disease in young babies. METHODS: For two years, real-time PCR was performed to test for Bordetella pertussis in 86 infants younger than 6 months hospitalized for apnea or paroxysmal and/or vomiting cough and in 205 of their household contacts, whether or not they coughed. RESULTS: Group 1 included 30 infants for whom PCR detected B. pertussis (25 of whom were also RSV+). PCR was also positive for at least one household contact in 25/30 families. This group included 16 babies with apnea and 12 who developed a whooping cough during follow-up. Group 2 comprised 12 infants whose PCR was negative while at least one household contact had positive results. Five of these infants had severe apnea and 6 developed a whooping cough. Group 3 included 44 infants (28 RSV +) for whom PCR was negative in the index case and in the household contacts: none developed a whooping cough during follow-up. Only 3 of the 54 positive household contacts had a paroxysmal cough or a typical whooping cough and 12 had no cough at all. CONCLUSION: Positive PCR in a household contact, symptomatic or not, is helpful for the diagnosis of atypical whooping cough in young infants.