Abnormal central complex is a marker of severity in the presence of partial ciliary defect.

Background: Ciliary ultrastructural defects with total lack of dynein arms (DA) cause abnormal mucociliary function leading to the chronic infections observed in primary ciliary dyskinesia. The role of partial ciliary ultrastructural defects, especially those involving the central complex, and their relationship with respiratory symptoms have been less thoroughly investigated.

Objective: In a pediatric population with partial ciliary defects, we determined the relationship(s) between ultrastructural findings, ciliary motility, and clinical and functional features, and evaluated the outcome of this population.

Genotype analysis and phenotypic manifestations of children with intermediate sweat chloride test results.

Study Objectives: Cystic fibrosis (CF) is one of the most common inherited diseases among whites. Since the cloning of the CF transmembrane conductance regulator (CFTR) gene, a number of studies have focused on associations between the genotype and phenotype in CF. This had led to the progressive identification of new groups of patients, including those who have mild lung disease and those who have normal sweat chloride values (< 60 mEq/L).

[Pathophysiology of acute thoracic syndrome].

Pulmonary complications are the leading cause of morbidity and mortality in sickle cell disease patients. Acute chest syndrome (ACS), in which chest pain and dyspnea, occurs in combination with a recent chest radiograph abnormality, raises both diagnostic and therapeutic challenges. The pathogenesis of ACS involves alterations in blood rheology, increased coagulability, and, above all, increased adhesion of sickle cells to the vascular endothelium and nitric oxide-mediated dysregulation of vascular reactivity.

Effect of hyperoxia on human macrophage cytokine response.

In the development of lung damage induced by oxidative stress, it has been proposed that changes in alveolar macrophages (AM) function with modifications in cytokine production may contribute to altered repair processes. To characterize the changes in profiles of cytokine production by macrophages exposed to oxidants, the effects of hyperoxia (95% O2) on interleukin (IL)-1 beta, IL-6, IL-8, and tumour necrosis factor-alpha (TNF-alpha) expression were studied. Experiments were first performed using AM obtained from control subjects and children with interstitial lung disease.

Chronic interstitial lung disease in children: response to high-dose intravenous methylprednisolone pulses.

The prognosis for children with chronic interstitial lung disease is poor and the mortality rate is high, especially in infants. This explains the many therapeutical protocols which have been proposed and investigated by several authors. In the present work, we evaluated the response of three infants with idiopathic pulmonary fibrosis to high-dose intravenous prednisolone pulses.